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 CAMTA1 23261 broad.mit.edu 37 1 7724016 7724016 + Missense_Mutation SNP T A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr1:7724016T>A uc001aoi.2 + 9 1616 c.1409T>A c.(1408-1410)CTC>CAC p.L470H NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN calmodulin-binding transcription activator 1 470 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1) 9 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) TCCACCACCCTCGACGGTGGC 0.597 35 104 --- --- --- --- PASS FBXO2 26232 broad.mit.edu 37 1 11708778 11708778 + Silent SNP G A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr1:11708778G>A uc001asj.2 - 6 1206 c.864C>T c.(862-864)ACC>ACT p.T288T FBXO2_uc009vna.2_Silent_p.T291T NM_012168 NP_036300 Q9UK22 FBX2_HUMAN F-box only protein 2 288 FBA. glycoprotein catabolic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|endoplasmic reticulum|membrane|microsome|SCF ubiquitin ligase complex sugar binding|ubiquitin-protein ligase activity 0 Ovarian(185;0.249) Lung NSC(185;9.37e-06)|all_lung(284;1.39e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649) CGCTGCTGTTGGTCACCCGGG 0.652 35 50 --- --- --- --- PASS VPS13D 55187 broad.mit.edu 37 1 12387911 12387911 + Missense_Mutation SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr1:12387911C>A uc001atv.2 + 36 8338 c.8197C>A c.(8197-8199)CGT>AGT p.R2733S VPS13D_uc001atw.2_Missense_Mutation_p.R2733S|VPS13D_uc001atx.2_Missense_Mutation_p.R1921S|VPS13D_uc001aty.1_Missense_Mutation_p.R471S NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 2733 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) CACCTTTTCCCGTGAGTGTTG 0.403 31 75 --- --- --- --- PASS CSMD2 114784 broad.mit.edu 37 1 34076665 34076665 + Missense_Mutation SNP G T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr1:34076665G>T uc001bxn.1 - 41 6228 c.6199C>A c.(6199-6201)CCA>ACA p.P2067T CSMD2_uc001bxm.1_Missense_Mutation_p.P2107T|CSMD2_uc001bxo.1_Missense_Mutation_p.P980T NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2067 CUB 12.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TTGAATCCTGGCCGATTCTGG 0.562 26 74 --- --- --- --- PASS ATPAF1 64756 broad.mit.edu 37 1 47110897 47110897 + Missense_Mutation SNP T A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr1:47110897T>A uc001cqh.2 - 7 725 c.620A>T c.(619-621)TAT>TTT p.Y207F ATPAF1_uc001cqg.2_Intron|ATPAF1_uc009vyk.2_Missense_Mutation_p.Y56F|ATPAF1_uc010omg.1_Missense_Mutation_p.Y119F|ATPAF1_uc001cqi.2_Intron NM_022745 NP_073582 Q5TC12 ATPF1_HUMAN ATP synthase mitochondrial F1 complex assembly 207 protein complex assembly mitochondrion protein binding 0 Acute lymphoblastic leukemia(166;0.155) AAAAAACTCATAACCTTCCCT 0.403 90 291 --- --- --- --- PASS ZFYVE9 9372 broad.mit.edu 37 1 52729506 52729506 + Missense_Mutation SNP C G G TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr1:52729506C>G uc001cto.2 + 5 2412 c.2240C>G c.(2239-2241)GCT>GGT p.A747G ZFYVE9_uc001ctn.2_Missense_Mutation_p.A747G|ZFYVE9_uc001ctp.2_Missense_Mutation_p.A747G NM_004799 NP_004790 O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 isoform 3 747 FYVE-type. endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity ovary(2)|lung(2)|central_nervous_system(2)|skin(2) 8 AGAAAGGAAGCTAGAGTGTGT 0.408 6 10 --- --- --- --- PASS ZYG11B 79699 broad.mit.edu 37 1 53282232 53282232 + Missense_Mutation SNP G T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr1:53282232G>T uc001cuj.2 + 13 2170 c.1975G>T c.(1975-1977)GGC>TGC p.G659C ZYG11B_uc009vzg.2_RNA|ZYG11B_uc010onj.1_Missense_Mutation_p.G580C|ZYG11B_uc009vzh.2_Missense_Mutation_p.G81C NM_024646 NP_078922 Q9C0D3 ZY11B_HUMAN zyg-11 homolog B 659 protein binding p.G659S(1) upper_aerodigestive_tract(2)|ovary(1)|pancreas(1) 4 CCCATTACTTGGCTGTTTCAC 0.378 130 145 --- --- --- --- PASS MYSM1 114803 broad.mit.edu 37 1 59133586 59133586 + Missense_Mutation SNP T A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr1:59133586T>A uc009wab.1 - 15 1798 c.1775A>T c.(1774-1776)CAT>CTT p.H592L MYSM1_uc009waa.1_5'UTR|MYSM1_uc001czc.2_RNA NM_001085487 NP_001078956 Q5VVJ2 MYSM1_HUMAN Myb-like, SWIRM and MPN domains 1 592 MPN. histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin remodeling complex DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity skin(1) 1 all_cancers(7;9.36e-06) CATAGAAACATGAGCATGCTA 0.343 43 128 --- --- --- --- PASS LEPR 3953 broad.mit.edu 37 1 66062217 66062217 + Missense_Mutation SNP C T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr1:66062217C>T uc001dci.2 + 7 992 c.790C>T c.(790-792)CCA>TCA p.P264S LEPR_uc001dcg.2_Missense_Mutation_p.P264S|LEPR_uc001dch.2_Missense_Mutation_p.P264S|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Missense_Mutation_p.P264S|LEPR_uc001dck.2_Missense_Mutation_p.P264S NM_002303 NP_002294 P48357 LEPR_HUMAN leptin receptor isoform 1 264 Extracellular (Potential).|Fibronectin type-III 1. energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity skin(1) 1 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) ACCATTGGTACCATTTCCACT 0.333 46 52 --- --- --- --- PASS TNNI3K 51086 broad.mit.edu 37 1 74835185 74835185 + Missense_Mutation SNP G T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr1:74835185G>T uc001dgf.1 + 16 1634 c.1583G>T c.(1582-1584)TGC>TTC p.C528F TNNI3K_uc001dgc.1_Missense_Mutation_p.C629F|TNNI3K_uc001dgd.2_Missense_Mutation_p.C629F|TNNI3K_uc001dge.1_Missense_Mutation_p.C629F NM_015978 NP_057062 Q59H18 TNI3K_HUMAN TNNI3 interacting kinase isoform b 528 Protein kinase. cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1) 10 GTGGGTGCTTGCTTGAATGAT 0.468 177 206 --- --- --- --- PASS TNNI3K 51086 broad.mit.edu 37 1 74836041 74836041 + Missense_Mutation SNP C G G TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr1:74836041C>G uc001dgf.1 + 17 1788 c.1737C>G c.(1735-1737)AAC>AAG p.N579K TNNI3K_uc001dgc.1_Missense_Mutation_p.N680K|TNNI3K_uc001dgd.2_Missense_Mutation_p.N680K|TNNI3K_uc001dge.1_Missense_Mutation_p.N680K NM_015978 NP_057062 Q59H18 TNI3K_HUMAN TNNI3 interacting kinase isoform b 579 Protein kinase. cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1) 10 ACCTTCACAACCTGACACAGC 0.343 72 97 --- --- --- --- PASS TNNI3K 51086 broad.mit.edu 37 1 74929212 74929212 + Missense_Mutation SNP G T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr1:74929212G>T uc001dgf.1 + 21 2150 c.2099G>T c.(2098-2100)CGA>CTA p.R700L TNNI3K_uc001dgd.2_Missense_Mutation_p.R801L|TNNI3K_uc001dge.1_Missense_Mutation_p.R801L NM_015978 NP_057062 Q59H18 TNI3K_HUMAN TNNI3 interacting kinase isoform b 700 Protein kinase. cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1) 10 CTGCTGATACGAGGGTGGAAC 0.438 98 245 --- --- --- --- PASS USP33 23032 broad.mit.edu 37 1 78207376 78207376 + Missense_Mutation SNP C T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr1:78207376C>T uc001dht.2 - 3 447 c.100G>A c.(100-102)GCT>ACT p.A34T USP33_uc001dhu.2_Missense_Mutation_p.A3T|USP33_uc001dhv.2_5'Flank|USP33_uc001dhw.2_Missense_Mutation_p.A34T NM_015017 NP_055832 Q8TEY7 UBP33_HUMAN ubiquitin specific protease 33 isoform 1 34 axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|VCB complex cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding lung(2)|ovary(1) 3 TTTCGAAAAGCTGACATTTTG 0.303 11 42 --- --- --- --- PASS CCBL2 56267 broad.mit.edu 37 1 89418830 89418830 + Silent SNP G C C TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr1:89418830G>C uc001dmp.2 - 10 1247 c.870C>G c.(868-870)GGC>GGG p.G290G CCBL2_uc001dmq.2_Silent_p.G256G|CCBL2_uc001dmr.2_Silent_p.G126G NM_001008661 NP_001008661 Q6YP21 KAT3_HUMAN kynurenine aminotransferase III isoform 1 290 biosynthetic process|kynurenine metabolic process|tryptophan catabolic process cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding ovary(1) 1 Lung NSC(277;0.123) all cancers(265;0.0117)|Epithelial(280;0.0341) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) CAATGGACCAGCCAAGCTGGG 0.308 47 27 --- --- --- --- PASS BARHL2 343472 broad.mit.edu 37 1 91182202 91182202 + Missense_Mutation SNP G T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr1:91182202G>T uc001dns.2 - 1 593 c.551C>A c.(550-552)CCA>CAA p.P184Q NM_020063 NP_064447 Q9NY43 BARH2_HUMAN BarH-like homeobox 2 184 nucleus sequence-specific DNA binding ovary(1) 1 all_lung(203;0.0263)|Lung SC(238;0.128) all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211) CTCGAGCTTTGGCCTGAAGCT 0.617 14 49 --- --- --- --- PASS GSTM5 2949 broad.mit.edu 37 1 110260013 110260013 + Silent SNP T C C TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr1:110260013T>C uc001dyn.2 + 8 693 c.622T>C c.(622-624)TTG>CTG p.L208L GSTM5_uc010ovu.1_3'UTR NM_000851 NP_000842 P46439 GSTM5_HUMAN glutathione S-transferase mu 5 208 xenobiotic metabolic process endoplasmic reticulum membrane glutathione transferase activity central_nervous_system(6) 6 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228) Glutathione(DB00143) CCGAGGTCTTTTGTTTGGAAA 0.552 119 108 --- --- --- --- PASS RHOC 389 broad.mit.edu 37 1 113245681 113245681 + Missense_Mutation SNP A C C TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr1:113245681A>C uc001ecp.1 - 4 517 c.217T>G c.(217-219)TCC>GCC p.S73A RHOC_uc001ecq.1_Missense_Mutation_p.S73A|RHOC_uc001ecr.1_Missense_Mutation_p.S73A|RHOC_uc009wgk.1_Missense_Mutation_p.S73A NM_001042679 NP_001036144 P08134 RHOC_HUMAN ras homolog gene family, member C precursor 73 axon guidance|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding|GTPase activity|signal transducer activity ovary(1) 1 Lung SC(450;0.246) all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TCCGGGTAGGAGAGAGGCCGC 0.612 50 184 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158617400 158617400 + Silent SNP C T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr1:158617400C>T uc001fst.1 - 27 4024 c.3825G>A c.(3823-3825)CAG>CAA p.Q1275Q NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1275 Spectrin 12. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) TTGTACGCCCCTGCAGGTCTT 0.557 78 197 --- --- --- --- PASS OR6K3 391114 broad.mit.edu 37 1 158687140 158687140 + Missense_Mutation SNP G C C TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr1:158687140G>C uc010pip.1 - 1 814 c.814C>G c.(814-816)CTC>GTC p.L272V NM_001005327 NP_001005327 Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, 272 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|kidney(1)|central_nervous_system(1) 3 all_hematologic(112;0.0378) AAGTACATGAGTGATACACTG 0.448 47 167 --- --- --- --- PASS OR6K6 128371 broad.mit.edu 37 1 158724916 158724916 + Missense_Mutation SNP C T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr1:158724916C>T uc001fsw.1 + 1 311 c.311C>T c.(310-312)ACC>ATC p.T104I NM_001005184 NP_001005184 Q8NGW6 OR6K6_HUMAN olfactory receptor, family 6, subfamily K, 104 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_hematologic(112;0.0378) TATACCACAACCACCATCCCC 0.493 83 324 --- --- --- --- PASS TDRD5 163589 broad.mit.edu 37 1 179609107 179609107 + Missense_Mutation SNP G C C TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr1:179609107G>C uc001gnf.1 + 10 1904 c.1654G>C c.(1654-1656)GAG>CAG p.E552Q TDRD5_uc010pnp.1_Missense_Mutation_p.E552Q|TDRD5_uc001gnh.1_Missense_Mutation_p.E107Q NM_173533 NP_775804 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 552 Tudor. DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding ovary(2)|skin(2)|central_nervous_system(1) 5 TCGAGTCCTTGAGAAACAGGA 0.413 274 317 --- --- --- --- PASS NCF2 4688 broad.mit.edu 37 1 183525256 183525256 + Silent SNP G C C TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr1:183525256G>C uc001gqj.3 - 15 1853 c.1578C>G c.(1576-1578)GTC>GTG p.V526V NCF2_uc010pod.1_Silent_p.V481V|NCF2_uc010poe.1_Silent_p.V445V|NCF2_uc001gqk.3_Silent_p.V526V NM_000433 NP_000424 P19878 NCF2_HUMAN neutrophil cytosolic factor 2 526 cellular defense response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex|nucleolus electron carrier activity|protein C-terminus binding ovary(3) 3 AAACATCCTAGACTTCTCTCC 0.423 34 119 --- --- --- --- PASS CFHR3 10878 broad.mit.edu 37 1 196757463 196757463 + Missense_Mutation SNP A G G TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr1:196757463A>G uc001gtl.2 + 4 635 c.548A>G c.(547-549)GAT>GGT p.D183G CFHR3_uc001gtk.2_Missense_Mutation_p.D183G|CFHR3_uc010poy.1_Intron|CFHR1_uc001gtm.2_Intron NM_021023 NP_066303 Q02985 FHR3_HUMAN complement factor H-related 3 precursor 183 Sushi 3. extracellular space 0 GCAACAGCAGATGGAAATTCT 0.294 78 276 --- --- --- --- PASS CR2 1380 broad.mit.edu 37 1 207646142 207646142 + Silent SNP T A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr1:207646142T>A uc001hfw.2 + 10 1690 c.1596T>A c.(1594-1596)GTT>GTA p.V532V CR2_uc001hfv.2_Silent_p.V532V|CR2_uc009xch.2_Silent_p.V532V|CR2_uc009xci.1_Silent_p.V17V NM_001877 NP_001868 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) 532 Sushi 9.|Extracellular (Potential). complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1) 8 CACCCCCTGTTATCTACAATG 0.448 64 84 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216373338 216373338 + Missense_Mutation SNP G T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr1:216373338G>T uc001hku.1 - 17 3829 c.3442C>A c.(3442-3444)CCA>ACA p.P1148T USH2A_uc001hkv.2_Missense_Mutation_p.P1148T NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 1148 Extracellular (Potential).|Fibronectin type-III 2. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TTTCCCTCTGGGACCCCTGGT 0.418 HNSCC(13;0.011) 132 221 --- --- --- --- PASS GPATCH2 55105 broad.mit.edu 37 1 217793767 217793767 + Missense_Mutation SNP C T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr1:217793767C>T uc001hlf.1 - 2 227 c.131G>A c.(130-132)CGA>CAA p.R44Q GPATCH2_uc001hlg.3_Missense_Mutation_p.R44Q NM_018040 NP_060510 Q9NW75 GPTC2_HUMAN G patch domain containing 2 44 intracellular nucleic acid binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872) AAATCCACCTCGAGCTTGCTC 0.453 137 227 --- --- --- --- PASS DISP1 84976 broad.mit.edu 37 1 223177328 223177328 + Missense_Mutation SNP G T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr1:223177328G>T uc001hnu.1 + 8 2736 c.2589G>T c.(2587-2589)CAG>CAT p.Q863H NM_032890 NP_116279 Q96F81 DISP1_HUMAN dispatched A 863 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity 0 GBM - Glioblastoma multiforme(131;0.102) TGGAAAACCAGGACTGTGATG 0.463 79 125 --- --- --- --- PASS NID1 4811 broad.mit.edu 37 1 236189372 236189372 + Missense_Mutation SNP C T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr1:236189372C>T uc001hxo.2 - 8 1910 c.1808G>A c.(1807-1809)CGC>CAC p.R603H NID1_uc009xgd.2_Missense_Mutation_p.R603H NM_002508 NP_002499 P14543 NID1_HUMAN nidogen 1 precursor 603 Nidogen G2 beta-barrel. cell-matrix adhesion basement membrane calcium ion binding large_intestine(1)|pancreas(1) 2 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) AGTGTAGATGCGTGAAGGAGA 0.622 111 184 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237947185 237947185 + Missense_Mutation SNP A T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr1:237947185A>T uc001hyl.1 + 90 12293 c.12173A>T c.(12172-12174)TAC>TTC p.Y4058F RYR2_uc010pya.1_Missense_Mutation_p.Y473F NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4058 EF-hand. 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) CATAAGCACTACACGCAGTCA 0.478 26 43 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237947838 237947838 + Missense_Mutation SNP G T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr1:237947838G>T uc001hyl.1 + 90 12946 c.12826G>T c.(12826-12828)GTG>TTG p.V4276L RYR2_uc010pya.1_Missense_Mutation_p.V691L NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4276 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) AAAGATGACCGTGAAGGACAT 0.468 44 80 --- --- --- --- PASS FMN2 56776 broad.mit.edu 37 1 240370901 240370901 + Missense_Mutation SNP G T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr1:240370901G>T uc010pyd.1 + 5 3014 c.2789G>T c.(2788-2790)GGC>GTC p.G930V FMN2_uc010pye.1_Missense_Mutation_p.G934V NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 930 Pro-rich.|FH1. 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) CCCGGAGCAGGCATACTCCCT 0.697 86 131 --- --- --- --- PASS RGS7 6000 broad.mit.edu 37 1 241146429 241146429 + Missense_Mutation SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr1:241146429C>A uc001hyv.2 - 4 506 c.176G>T c.(175-177)GGT>GTT p.G59V RGS7_uc010pyh.1_Missense_Mutation_p.G33V|RGS7_uc010pyj.1_5'UTR|RGS7_uc001hyu.2_Missense_Mutation_p.G59V|RGS7_uc009xgn.1_Missense_Mutation_p.G59V|RGS7_uc001hyw.2_Missense_Mutation_p.G59V NM_002924 NP_002915 P49802 RGS7_HUMAN regulator of G-protein signaling 7 59 DEP. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity ovary(4)|skin(2)|kidney(1) 7 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) AATGTCTGAACCTAGAAAAAG 0.289 16 19 --- --- --- --- PASS RGS7 6000 broad.mit.edu 37 1 241146430 241146430 + Splice_Site SNP C T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr1:241146430C>T uc001hyv.2 - 4 506 c.176_splice c.e4-1 p.G59_splice RGS7_uc010pyh.1_Splice_Site_p.G33_splice|RGS7_uc010pyj.1_Splice_Site|RGS7_uc001hyu.2_Splice_Site_p.G59_splice|RGS7_uc009xgn.1_Splice_Site_p.G59_splice|RGS7_uc001hyw.2_Splice_Site_p.G59_splice NM_002924 NP_002915 P49802 RGS7_HUMAN regulator of G-protein signaling 7 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity ovary(4)|skin(2)|kidney(1) 7 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) ATGTCTGAACCTAGAAAAAGA 0.294 16 17 --- --- --- --- PASS FH 2271 broad.mit.edu 37 1 241663881 241663881 + Missense_Mutation SNP C G G TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr1:241663881C>G uc001hyx.2 - 9 1278 c.1246G>C c.(1246-1248)GTG>CTG p.V416L NM_000143 NP_000134 P07954 FUMH_HUMAN fumarate hydratase precursor 416 fumarate metabolic process|tricarboxylic acid cycle cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex fumarate hydratase activity p.V416M(1) lung(3)|ovary(1)|skin(1) 5 Ovarian(103;0.103) all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118) OV - Ovarian serous cystadenocarcinoma(106;0.0214) Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109) GAGTGTAACACATTTTTAATC 0.308 Mis|N|F lieomyomatosis|renal Hereditary_Leiomyomatosis_and_Renal_Cell_Cancer 80 125 --- --- --- --- PASS CHML 1122 broad.mit.edu 37 1 241798599 241798599 + Missense_Mutation SNP T G G TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr1:241798599T>G uc001hzd.2 - 1 634 c.470A>C c.(469-471)CAC>CCC p.H157P OPN3_uc001hza.2_Intron|OPN3_uc001hzb.2_Intron|OPN3_uc001hzc.2_Intron NM_001821 NP_001812 P26374 RAE2_HUMAN choroideremia-like Rab escort protein 2 157 intracellular protein transport|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity ovary(4)|skin(2) 6 Ovarian(103;0.103)|all_lung(81;0.23) all_cancers(173;0.0231) OV - Ovarian serous cystadenocarcinoma(106;0.0125) TTTCTGAGTGTGTTTTGCAGG 0.388 101 513 --- --- --- --- PASS EXO1 9156 broad.mit.edu 37 1 242045216 242045216 + Splice_Site SNP A G G TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr1:242045216A>G uc001hzh.2 + 14 2650 c.2110_splice c.e14-2 p.E704_splice EXO1_uc001hzi.2_Splice_Site_p.E704_splice|EXO1_uc001hzj.2_Splice_Site_p.E704_splice|EXO1_uc009xgq.2_Splice_Site_p.E703_splice NM_130398 NP_569082 Q9UQ84 EXO1_HUMAN exonuclease 1 isoform b 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) TGGGGACTCTAGGAATCTGAT 0.303 Direct_reversal_of_damage|Editing_and_processing_nucleases 45 63 --- --- --- --- PASS NLRP3 114548 broad.mit.edu 37 1 247599422 247599422 + Missense_Mutation SNP G C C TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr1:247599422G>C uc001icr.2 + 8 2787 c.2649G>C c.(2647-2649)CAG>CAC p.Q883H NLRP3_uc001ics.2_Intron|NLRP3_uc001icu.2_Missense_Mutation_p.Q883H|NLRP3_uc001icw.2_Missense_Mutation_p.Q826H|NLRP3_uc001icv.2_Intron|NLRP3_uc010pyw.1_Missense_Mutation_p.Q861H NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 883 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) AGAATCCACAGTGTAACCTGC 0.448 57 87 --- --- --- --- PASS OR2M3 127062 broad.mit.edu 37 1 248366559 248366559 + Missense_Mutation SNP A T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr1:248366559A>T uc010pzg.1 + 1 190 c.190A>T c.(190-192)AGC>TGC p.S64C NM_001004689 NP_001004689 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, 64 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CCTCCTCCTCAGCCAACTGTC 0.547 394 505 --- --- --- --- PASS OR2T4 127074 broad.mit.edu 37 1 248525095 248525095 + Missense_Mutation SNP G T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr1:248525095G>T uc001ieh.1 + 1 213 c.213G>T c.(211-213)TTG>TTT p.L71F NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, 71 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(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) TGATGGCGTTGTCTGGAAATG 0.473 284 478 --- --- --- --- PASS OR2T1 26696 broad.mit.edu 37 1 248569700 248569700 + Nonsense_Mutation SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr1:248569700C>A uc010pzm.1 + 1 405 c.405C>A c.(403-405)TAC>TAA p.Y135* NM_030904 NP_112166 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, 135 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(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) TGGTTAATTACCTGCTGGATC 0.468 219 389 --- --- --- --- PASS OR2T2 401992 broad.mit.edu 37 1 248616203 248616203 + Missense_Mutation SNP C G G TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr1:248616203C>G uc001iek.1 + 1 105 c.105C>G c.(103-105)ATC>ATG p.I35M NM_001004136 NP_001004136 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, 35 Helical; Name=1; (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) TCTTCTCCATCTTTGTGGTGG 0.532 112 488 --- --- --- --- PASS IFT172 26160 broad.mit.edu 37 2 27706745 27706745 + Missense_Mutation SNP T A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr2:27706745T>A uc002rku.2 - 5 447 c.396A>T c.(394-396)GAA>GAT p.E132D IFT172_uc002rkw.2_Missense_Mutation_p.E132D|IFT172_uc010yls.1_Missense_Mutation_p.E111D|IFT172_uc010ezc.2_Missense_Mutation_p.E132D|IFT172_uc002rkv.2_Missense_Mutation_p.E132D NM_015662 NP_056477 Q9UG01 IF172_HUMAN selective LIM binding factor homolog 132 WD 3. cilium assembly cilium binding large_intestine(1)|ovary(1) 2 Acute lymphoblastic leukemia(172;0.155) TTACCTTCCCTTCAGCCAGTC 0.468 66 85 --- --- --- --- PASS USP34 9736 broad.mit.edu 37 2 61463468 61463468 + Silent SNP T C C TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr2:61463468T>C uc002sbe.2 - 54 6856 c.6834A>G c.(6832-6834)ACA>ACG p.T2278T USP34_uc002sbf.2_Silent_p.T428T NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN ubiquitin specific protease 34 2278 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1) 19 Epithelial(17;0.229) ACCCAAAATATGTATGTTCAA 0.239 10 27 --- --- --- --- PASS TGFA 7039 broad.mit.edu 37 2 70742029 70742029 + Missense_Mutation SNP G A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr2:70742029G>A uc002sgs.3 - 2 262 c.56C>T c.(55-57)GCG>GTG p.A19V TGFA_uc010fdq.2_Missense_Mutation_p.A25V|TGFA_uc010fdr.2_Missense_Mutation_p.A25V|TGFA_uc002sgt.3_Missense_Mutation_p.A19V|TGFA_uc002sgu.2_Missense_Mutation_p.A19V|TGFA_uc002sgv.2_Missense_Mutation_p.A19V|TGFA_uc002sgw.2_Missense_Mutation_p.A19V NM_003236 NP_003227 P01135 TGFA_HUMAN transforming growth factor, alpha isoform 1 19 activation of MAPK activity|cell proliferation|positive regulation of cell division|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis cell surface|extracellular space|integral to membrane|plasma membrane epidermal growth factor receptor binding|growth factor activity|MAP kinase kinase activity|signal transducer activity prostate(1) 1 GGCCTGGCACGCAGCCAACAC 0.597 13 40 --- --- --- --- PASS ALMS1 7840 broad.mit.edu 37 2 73677452 73677452 + Silent SNP A T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr2:73677452A>T uc002sje.1 + 10 3912 c.3801A>T c.(3799-3801)TCA>TCT p.S1267S ALMS1_uc002sjf.1_Silent_p.S1223S|ALMS1_uc002sjg.2_Silent_p.S653S|ALMS1_uc002sjh.1_Silent_p.S653S NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 1265 16.|34 X 47 AA approximate tandem repeat. 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 TGAAAATTTCAGTTGCCTCTG 0.453 72 170 --- --- --- --- PASS REG1B 5968 broad.mit.edu 37 2 79314031 79314031 + Silent SNP A T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr2:79314031A>T uc002sny.2 - 3 202 c.90T>A c.(88-90)CCT>CCA p.P30P REG1B_uc010ffv.1_Silent_p.P30P|REG1B_uc010ffw.2_Silent_p.P30P NM_006507 NP_006498 P48304 REG1B_HUMAN regenerating islet-derived 1 beta precursor 30 cell proliferation extracellular region sugar binding central_nervous_system(1)|skin(1) 2 TTCGGGGATTAGGCAGCTCTG 0.498 49 305 --- --- --- --- PASS REG1B 5968 broad.mit.edu 37 2 79314032 79314032 + Missense_Mutation SNP G T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr2:79314032G>T uc002sny.2 - 3 201 c.89C>A c.(88-90)CCT>CAT p.P30H REG1B_uc010ffv.1_Missense_Mutation_p.P30H|REG1B_uc010ffw.2_Missense_Mutation_p.P30H NM_006507 NP_006498 P48304 REG1B_HUMAN regenerating islet-derived 1 beta precursor 30 cell proliferation extracellular region sugar binding central_nervous_system(1)|skin(1) 2 TCGGGGATTAGGCAGCTCTGT 0.493 55 305 --- --- --- --- PASS REG1B 5968 broad.mit.edu 37 2 79314033 79314033 + Missense_Mutation SNP G A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr2:79314033G>A uc002sny.2 - 3 200 c.88C>T c.(88-90)CCT>TCT p.P30S REG1B_uc010ffv.1_Missense_Mutation_p.P30S|REG1B_uc010ffw.2_Missense_Mutation_p.P30S NM_006507 NP_006498 P48304 REG1B_HUMAN regenerating islet-derived 1 beta precursor 30 cell proliferation extracellular region sugar binding central_nervous_system(1)|skin(1) 2 CGGGGATTAGGCAGCTCTGTC 0.498 51 300 --- --- --- --- PASS RNF103 7844 broad.mit.edu 37 2 86831828 86831828 + Missense_Mutation SNP G T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr2:86831828G>T uc002srn.2 - 4 2165 c.1196C>A c.(1195-1197)ACA>AAA p.T399K VPS24_uc010ytl.1_Intron|RNF103_uc002srm.2_Missense_Mutation_p.T260K|uc002sro.2_Intron NM_005667 NP_005658 O00237 RN103_HUMAN ring finger protein 103 399 central nervous system development|ER-associated protein catabolic process endoplasmic reticulum membrane|integral to membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1) 1 CAGTGTGGTTGTATTGGAATA 0.383 31 107 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 90139450 90139450 + RNA SNP C G G TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr2:90139450C>G uc010fhm.2 + 18 c.2243C>G Parts of antibodies, mostly variable regions. TATGCTGCATCCAGTTTGCAA 0.522 86 285 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 90193270 90193270 + RNA SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr2:90193270C>A uc010fhm.2 + 22 c.2860C>A Parts of antibodies, mostly variable regions. GGGAAAGCTCCTAAGCTCCTG 0.527 71 331 --- --- --- --- PASS TMEM87B 84910 broad.mit.edu 37 2 112858218 112858218 + Missense_Mutation SNP A G G TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr2:112858218A>G uc002thm.2 + 15 1765 c.1396A>G c.(1396-1398)ATA>GTA p.I466V NM_032824 NP_116213 Q96K49 TM87B_HUMAN transmembrane protein 87B precursor 466 integral to membrane 0 CATGCCCTTAATAGATGATTC 0.279 27 88 --- --- --- --- PASS PSD4 23550 broad.mit.edu 37 2 113943638 113943638 + Silent SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr2:113943638C>A uc002tjc.2 + 5 1617 c.1434C>A c.(1432-1434)GGC>GGA p.G478G PSD4_uc002tjd.2_Silent_p.G99G|PSD4_uc002tje.2_Silent_p.G449G|PSD4_uc002tjf.2_Silent_p.G99G NM_012455 NP_036587 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 478 regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity ovary(2) 2 ACAGCTCAGGCATTTTGCCCA 0.592 73 82 --- --- --- --- PASS DPP10 57628 broad.mit.edu 37 2 116548755 116548755 + Nonsense_Mutation SNP G T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr2:116548755G>T uc002tla.1 + 18 2087 c.1630G>T c.(1630-1632)GAA>TAA p.E544* DPP10_uc002tlb.1_Nonsense_Mutation_p.E494*|DPP10_uc002tlc.1_Nonsense_Mutation_p.E540*|DPP10_uc002tle.2_Nonsense_Mutation_p.E548*|DPP10_uc002tlf.1_Nonsense_Mutation_p.E537* NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 544 Extracellular (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 TGACGACTATGGTAAAATTTT 0.323 20 70 --- --- --- --- PASS PTPN18 26469 broad.mit.edu 37 2 131130789 131130789 + Missense_Mutation SNP C T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr2:131130789C>T uc002trc.2 + 15 1476 c.1375C>T c.(1375-1377)CGG>TGG p.R459W PTPN18_uc002trd.2_Missense_Mutation_p.R438W|PTPN18_uc002trb.2_Missense_Mutation_p.R352W|PTPN18_uc002tre.2_Missense_Mutation_p.R110W NM_014369 NP_055184 Q99952 PTN18_HUMAN protein tyrosine phosphatase, non-receptor type 459 cytoplasm|nucleus non-membrane spanning protein tyrosine phosphatase activity ovary(3)|kidney(1) 4 Colorectal(110;0.1) TGAGTGGACCCGGGTGTAAGT 0.622 12 25 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 140990892 140990892 + Missense_Mutation SNP T C C TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr2:140990892T>C uc002tvj.1 - 91 14635 c.13663A>G c.(13663-13665)ACA>GCA p.T4555A NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4555 Cytoplasmic (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GAGTAATTTGTTGGCTGAAGG 0.328 TSP Lung(27;0.18) 16 45 --- --- --- --- PASS KCNH7 90134 broad.mit.edu 37 2 163693071 163693071 + Missense_Mutation SNP C T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr2:163693071C>T uc002uch.1 - 2 495 c.283G>A c.(283-285)GAG>AAG p.E95K KCNH7_uc002uci.2_Missense_Mutation_p.E95K NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H, 95 Cytoplasmic (Potential).|PAC. regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity ovary(3)|skin(2) 5 Ibutilide(DB00308) TAGGTGACCTCCACTTTCCTC 0.418 24 90 --- --- --- --- PASS TTC21B 79809 broad.mit.edu 37 2 166773802 166773802 + Missense_Mutation SNP C G G TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr2:166773802C>G uc002udk.2 - 14 1997 c.1864G>C c.(1864-1866)GAA>CAA p.E622Q NM_024753 NP_079029 Q7Z4L5 TT21B_HUMAN tetratricopeptide repeat domain 21B 622 TPR 8. cilium axoneme|cytoplasm|cytoskeleton binding ovary(2)|pancreas(2)|breast(1) 5 TCTATCAATTCAAGAAAGATC 0.358 77 139 --- --- --- --- PASS XIRP2 129446 broad.mit.edu 37 2 168100236 168100236 + Silent SNP G T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr2:168100236G>T uc002udx.2 + 8 2352 c.2334G>T c.(2332-2334)CCG>CCT p.P778P XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.P603P|XIRP2_uc010fpq.2_Silent_p.P556P|XIRP2_uc010fpr.2_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 603 Xin 7. actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 AAACACAGCCGTTGGACACAA 0.413 83 40 --- --- --- --- PASS WDR75 84128 broad.mit.edu 37 2 190340027 190340027 + Missense_Mutation SNP C G G TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr2:190340027C>G uc002uql.1 + 21 2437 c.2377C>G c.(2377-2379)CAG>GAG p.Q793E WDR75_uc002uqm.1_Missense_Mutation_p.Q729E|WDR75_uc002uqn.1_Missense_Mutation_p.Q571E|WDR75_uc002uqo.1_Missense_Mutation_p.Q571E NM_032168 NP_115544 Q8IWA0 WDR75_HUMAN WD repeat domain 75 793 nucleolus ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456) CGAAAAAGTCCAGGATACAAG 0.318 90 17 --- --- --- --- PASS STK36 27148 broad.mit.edu 37 2 219540970 219540970 + Missense_Mutation SNP G A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr2:219540970G>A uc002viu.2 + 6 919 c.653G>A c.(652-654)CGC>CAC p.R218H STK36_uc002viv.2_Missense_Mutation_p.R218H NM_015690 NP_056505 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 218 Protein kinase. cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1) 11 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) GACCCTGTGCGCTGGCCCTCA 0.458 61 33 --- --- --- --- PASS FAM124B 79843 broad.mit.edu 37 2 225266379 225266379 + Missense_Mutation SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr2:225266379C>A uc002vnx.2 - 1 333 c.107G>T c.(106-108)TGC>TTC p.C36F FAM124B_uc002vnw.2_Missense_Mutation_p.C36F NM_001122779 NP_001116251 Q9H5Z6 F124B_HUMAN hypothetical protein LOC79843 isoform a 36 protein binding ovary(2) 2 Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138) Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825) GACCTCTGGGCAAATGCAATC 0.577 25 26 --- --- --- --- PASS USP40 55230 broad.mit.edu 37 2 234407258 234407258 + Missense_Mutation SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr2:234407258C>A uc010zmr.1 - 22 2684 c.2684G>T c.(2683-2685)GGA>GTA p.G895V USP40_uc010zms.1_5'UTR|USP40_uc002vun.2_Missense_Mutation_p.G59V|USP40_uc002vuo.1_Missense_Mutation_p.G59V NM_018218 NP_060688 Q9NVE5 UBP40_HUMAN ubiquitin thioesterase 40 883 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(1)|lung(1)|breast(1) 3 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) CCAGGCATCTCCTATAAAGGA 0.373 22 17 --- --- --- --- PASS ITIH3 3699 broad.mit.edu 37 3 52842629 52842629 + Missense_Mutation SNP G A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr3:52842629G>A uc003dfv.2 + 22 2641 c.2605G>A c.(2605-2607)GTC>ATC p.V869I ITIH3_uc011bek.1_Missense_Mutation_p.V677I NM_002217 NP_002208 Q06033 ITIH3_HUMAN inter-alpha (globulin) inhibitor H3 869 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|liver(1) 3 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) CTGCTGGTTCGTCCACAACAA 0.537 29 70 --- --- --- --- PASS TMF1 7110 broad.mit.edu 37 3 69101202 69101202 + Silent SNP G A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr3:69101202G>A uc003dnn.2 - 1 283 c.36C>T c.(34-36)TTC>TTT p.F12F TMF1_uc011bfx.1_Silent_p.F12F NM_007114 NP_009045 P82094 TMF1_HUMAN TATA element modulatory factor 1 12 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi membrane|nucleus DNA binding|protein binding|transcription cofactor activity 0 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247) CCTGCTTAGCGAAGCTGGAGA 0.637 29 87 --- --- --- --- PASS TRAT1 50852 broad.mit.edu 37 3 108568055 108568055 + Missense_Mutation SNP C G G TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr3:108568055C>G uc003dxi.1 + 5 401 c.257C>G c.(256-258)CCA>CGA p.P86R TRAT1_uc010hpx.1_Missense_Mutation_p.P49R NM_016388 NP_057472 Q6PIZ9 TRAT1_HUMAN T-cell receptor interacting molecule 86 Cytoplasmic (Potential). cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity skin(1) 1 AAAGCCCGACCAGAGAAATCT 0.348 43 163 --- --- --- --- PASS TMPRSS7 344805 broad.mit.edu 37 3 111797663 111797663 + Missense_Mutation SNP G T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr3:111797663G>T uc010hqb.2 + 15 2091 c.1921G>T c.(1921-1923)GGG>TGG p.G641W TMPRSS7_uc011bhr.1_Missense_Mutation_p.G496W NM_001042575 NP_001036040 Q7RTY8 TMPS7_HUMAN transmembrane protease, serine 7 767 Extracellular (Potential).|Peptidase S1. proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity ovary(1)|kidney(1) 2 TTCCACCTACGGGATCATCAC 0.453 32 82 --- --- --- --- PASS SLC9A10 285335 broad.mit.edu 37 3 111927157 111927157 + Silent SNP G A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr3:111927157G>A uc003dyu.2 - 16 2076 c.1854C>T c.(1852-1854)TAC>TAT p.Y618Y SLC9A10_uc011bhu.1_Intron|SLC9A10_uc010hqc.2_Silent_p.Y570Y NM_183061 NP_898884 Q4G0N8 S9A10_HUMAN sperm-specific sodium proton exchanger 618 Helical; (Potential).|Ion transport-like. cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity ovary(3)|breast(2) 5 ATATCACAAGGTATCCAACAT 0.294 40 138 --- --- --- --- PASS PLA1A 51365 broad.mit.edu 37 3 119348282 119348282 + Silent SNP T A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr3:119348282T>A uc003ecu.2 + 11 1377 c.1338T>A c.(1336-1338)ACT>ACA p.T446T PLA1A_uc003ecv.2_Silent_p.T430T|PLA1A_uc003ecw.2_RNA|PLA1A_uc011bjc.1_Silent_p.T273T NM_015900 NP_056984 Q53H76 PLA1A_HUMAN phospholipase A1 member A precursor 446 Involved in the recognition of diacyl- phospholipids. lipid catabolic process|phosphatidylserine metabolic process extracellular region phospholipase A1 activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 CAAGTGTGACTGTTTCCTGTG 0.463 160 121 --- --- --- --- PASS PLXND1 23129 broad.mit.edu 37 3 129290355 129290355 + Silent SNP G A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr3:129290355G>A uc003emx.2 - 17 3433 c.3333C>T c.(3331-3333)CCC>CCT p.P1111P NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN plexin D1 precursor 1111 Extracellular (Potential).|IPT/TIG 3. axon guidance integral to membrane|intracellular|plasma membrane large_intestine(1) 1 GCCTCACCGTGGGCTCCCGGC 0.662 39 66 --- --- --- --- PASS CEP63 80254 broad.mit.edu 37 3 134256052 134256052 + Missense_Mutation SNP A T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr3:134256052A>T uc003eqo.1 + 7 946 c.497A>T c.(496-498)CAG>CTG p.Q166L CEP63_uc003eql.1_Missense_Mutation_p.Q166L|CEP63_uc003eqm.2_Missense_Mutation_p.Q166L|CEP63_uc003eqn.1_Missense_Mutation_p.Q166L NM_025180 NP_079456 Q96MT8 CEP63_HUMAN centrosomal protein 63 isoform a 166 Potential. cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly centrosome|cytosol|spindle pole protein binding ovary(1) 1 TATCAGCAACAGGTATCTTCA 0.428 40 178 --- --- --- --- PASS GRK7 131890 broad.mit.edu 37 3 141497223 141497223 + Silent SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr3:141497223C>A uc011bnd.1 + 1 181 c.97C>A c.(97-99)CGG>AGG p.R33R NM_139209 NP_631948 Q8WTQ7 GRK7_HUMAN G-protein-coupled receptor kinase 7 precursor 33 visual perception membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity lung(2)|stomach(1)|ovary(1)|skin(1) 5 GCTGCAGCGGCGGCGGCGTAG 0.687 26 57 --- --- --- --- PASS PLSCR1 5359 broad.mit.edu 37 3 146234826 146234826 + Missense_Mutation SNP C G G TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr3:146234826C>G uc003evx.3 - 8 1255 c.867G>C c.(865-867)ATG>ATC p.M289I PLSCR1_uc003evy.3_Missense_Mutation_p.M282I|PLSCR1_uc011bnn.1_Missense_Mutation_p.M208I|PLSCR1_uc003evz.3_RNA NM_021105 NP_066928 O15162 PLS1_HUMAN phospholipid scramblase 1 289 Helical; (Potential). phospholipid scrambling|platelet activation|response to virus integral to membrane|plasma membrane calcium ion binding|phospholipid scramblase activity|SH3 domain binding ovary(2) 2 TTACAGCTTTCATTTTAACAT 0.363 129 117 --- --- --- --- PASS HLTF 6596 broad.mit.edu 37 3 148752709 148752709 + Missense_Mutation SNP G A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr3:148752709G>A uc003ewq.1 - 24 3091 c.2873C>T c.(2872-2874)ACA>ATA p.T958I HLTF_uc003ewr.1_Missense_Mutation_p.T958I|HLTF_uc003ews.1_Missense_Mutation_p.T957I|HLTF_uc010hve.1_Missense_Mutation_p.T957I NM_139048 NP_620636 Q14527 HLTF_HUMAN helicase-like transcription factor 958 Helicase C-terminal.|Interaction with SP1 and SP3. chromatin modification|transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) ACTCACTTTTGTGATGATAAC 0.338 18 120 --- --- --- --- PASS MED12L 116931 broad.mit.edu 37 3 151112454 151112454 + Silent SNP A G G TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr3:151112454A>G uc003eyp.2 + 37 5552 c.5514A>G c.(5512-5514)AGA>AGG p.R1838R MED12L_uc011bnz.1_Silent_p.R1698R NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 1838 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GTGGCTCCAGATTGGACCCTG 0.463 156 165 --- --- --- --- PASS SI 6476 broad.mit.edu 37 3 164712050 164712050 + Missense_Mutation SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr3:164712050C>A uc003fei.2 - 41 4898 c.4836G>T c.(4834-4836)TTG>TTT p.L1612F NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1612 Sucrase.|Lumenal. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) CTTACTCATGCAAAAGGGGTC 0.313 HNSCC(35;0.089) 53 77 --- --- --- --- PASS SLITRK3 22865 broad.mit.edu 37 3 164907547 164907547 + Missense_Mutation SNP G A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr3:164907547G>A uc003fej.3 - 2 1516 c.1072C>T c.(1072-1074)CCT>TCT p.P358S SLITRK3_uc003fek.2_Missense_Mutation_p.P358S NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 358 Extracellular (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 GCAATGGGAGGCTGGTTTGGA 0.498 HNSCC(40;0.11) 112 800 --- --- --- --- PASS WDR49 151790 broad.mit.edu 37 3 167246922 167246922 + Missense_Mutation SNP G C C TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr3:167246922G>C uc003fev.1 - 10 1574 c.1268C>G c.(1267-1269)TCG>TGG p.S423W WDR49_uc003feu.1_Missense_Mutation_p.S248W|WDR49_uc011bpd.1_Missense_Mutation_p.S487W|WDR49_uc003few.1_Intron NM_178824 NP_849146 Q8IV35 WDR49_HUMAN WD repeat domain 49 423 WD 7. large_intestine(1)|ovary(1)|skin(1) 3 CATAATAATCGATCCAACTCC 0.363 40 220 --- --- --- --- PASS EIF4G1 1981 broad.mit.edu 37 3 184039232 184039232 + Missense_Mutation SNP G A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr3:184039232G>A uc003fnp.2 + 10 1058 c.860G>A c.(859-861)GGG>GAG p.G287E EIF4G1_uc003fno.1_Missense_Mutation_p.G228E|EIF4G1_uc010hxw.1_Missense_Mutation_p.G123E|EIF4G1_uc003fnt.2_5'UTR|EIF4G1_uc003fnq.2_Missense_Mutation_p.G200E|EIF4G1_uc003fnr.2_Missense_Mutation_p.G123E|EIF4G1_uc010hxx.2_Missense_Mutation_p.G294E|EIF4G1_uc003fns.2_Missense_Mutation_p.G247E|EIF4G1_uc010hxy.2_Missense_Mutation_p.G294E|EIF4G1_uc003fnv.3_Missense_Mutation_p.G287E|EIF4G1_uc003fnu.3_Missense_Mutation_p.G287E|EIF4G1_uc003fnw.2_Missense_Mutation_p.G294E|EIF4G1_uc003fnx.2_Missense_Mutation_p.G91E|EIF4G1_uc003fny.3_Missense_Mutation_p.G91E NM_198241 NP_937884 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 287 insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TCTATTCCTGGGGACACTATG 0.542 82 265 --- --- --- --- PASS CLCN2 1181 broad.mit.edu 37 3 184075171 184075171 + Missense_Mutation SNP C T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr3:184075171C>T uc003foi.2 - 8 1001 c.877G>A c.(877-879)GCA>ACA p.A293T CLCN2_uc003foh.2_5'Flank|CLCN2_uc010hya.1_Missense_Mutation_p.A293T|CLCN2_uc011brl.1_Missense_Mutation_p.A293T|CLCN2_uc011brm.1_Missense_Mutation_p.A249T|CLCN2_uc011brn.1_Missense_Mutation_p.A293T NM_004366 NP_004357 P51788 CLCN2_HUMAN chloride channel 2 293 Helical; (By similarity). chloride channel complex voltage-gated chloride channel activity 0 all_cancers(143;6.66e-11)|Ovarian(172;0.0339) Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Lubiprostone(DB01046) TTCCAGACTGCCAAGACCCGG 0.637 143 495 --- --- --- --- PASS OSTN 344901 broad.mit.edu 37 3 190936711 190936711 + Missense_Mutation SNP G C C TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr3:190936711G>C uc011bsn.1 + 2 278 c.278G>C c.(277-279)AGA>ACA p.R93T NM_198184 NP_937827 P61366 OSTN_HUMAN osteocrin precursor 93 cell differentiation|multicellular organismal development|ossification hormone activity pancreas(1)|skin(1) 2 all_cancers(143;6.79e-09)|Ovarian(172;0.103) LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06) GBM - Glioblastoma multiforme(46;0.000254) CCCCTTGACAGACTCTCAGCT 0.373 60 452 --- --- --- --- PASS POLN 353497 broad.mit.edu 37 4 2074721 2074721 + Missense_Mutation SNP C G G TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr4:2074721C>G uc003ger.2 - 23 2491 c.2491G>C c.(2491-2493)GTG>CTG p.V831L POLN_uc010icg.1_Splice_Site_p.Q278_splice NM_181808 NP_861524 Q7Z5Q5 DPOLN_HUMAN DNA-directed DNA polymerase nu 831 DNA repair|DNA replication nucleus DNA binding|DNA-directed DNA polymerase activity kidney(2)|ovary(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(23;0.0955) AATGCCTGCACCTGTTCCAAG 0.632 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 29 110 --- --- --- --- PASS BOD1L 259282 broad.mit.edu 37 4 13603626 13603626 + Missense_Mutation SNP A G G TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr4:13603626A>G uc003gmz.1 - 10 5015 c.4898T>C c.(4897-4899)GTG>GCG p.V1633A BOD1L_uc010idr.1_Missense_Mutation_p.V970A NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1633 DNA binding ovary(5)|breast(1) 6 AACTGCATGCACAGCCAGTAG 0.468 55 196 --- --- --- --- PASS LDB2 9079 broad.mit.edu 37 4 16597384 16597384 + Missense_Mutation SNP G T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr4:16597384G>T uc003goz.2 - 3 666 c.350C>A c.(349-351)ACG>AAG p.T117K LDB2_uc003gpa.2_Missense_Mutation_p.T117K|LDB2_uc003gpb.2_Missense_Mutation_p.T117K|LDB2_uc011bxh.1_Missense_Mutation_p.T117K|LDB2_uc010iee.2_Missense_Mutation_p.T117K|LDB2_uc003goy.2_5'UTR|LDB2_uc011bxi.1_5'UTR NM_001290 NP_001281 O43679 LDB2_HUMAN LIM domain binding 2 isoform a 117 LIM domain binding|transcription cofactor activity 0 GCAGTCCACCGTGATGGATGA 0.517 74 88 --- --- --- --- PASS PCDH7 5099 broad.mit.edu 37 4 31144317 31144317 + Missense_Mutation SNP T A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr4:31144317T>A uc011bxx.1 + 3 4598 c.3590T>A c.(3589-3591)CTG>CAG p.L1197Q PCDH7_uc011bxw.1_Missense_Mutation_p.L1150Q NM_002589 NP_002580 O60245 PCDH7_HUMAN protocadherin 7 isoform a precursor Error:Variant_position_missing_in_O60245_after_alignment homophilic cell adhesion integral to plasma membrane calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1) 4 AGAAACCTCCTGAACAAAAAG 0.493 68 157 --- --- --- --- PASS TBC1D1 23216 broad.mit.edu 37 4 38022223 38022223 + Silent SNP C T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr4:38022223C>T uc003gtb.2 + 5 1327 c.984C>T c.(982-984)CAC>CAT p.H328H TBC1D1_uc011byd.1_Silent_p.H328H|TBC1D1_uc010ifd.2_Intron|TBC1D1_uc011byf.1_Silent_p.H199H NM_015173 NP_055988 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, 328 PID. nucleus Rab GTPase activator activity ovary(1) 1 GCATCAGACACGTGGACCACT 0.483 162 345 --- --- --- --- PASS GABRG1 2565 broad.mit.edu 37 4 46043132 46043132 + Missense_Mutation SNP G T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr4:46043132G>T uc003gxb.2 - 9 1423 c.1271C>A c.(1270-1272)ACA>AAA p.T424K NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid A receptor, gamma 1 424 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(2) 2 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) CCAAGATCCTGTTCTGCAGTC 0.413 48 94 --- --- --- --- PASS FRYL 285527 broad.mit.edu 37 4 48572902 48572902 + Nonsense_Mutation SNP G A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr4:48572902G>A uc003gyh.1 - 27 3543 c.2938C>T c.(2938-2940)CGA>TGA p.R980* FRYL_uc003gyk.2_Nonsense_Mutation_p.R980* NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like 980 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 AGTTGTACTCGTAAAATGTCT 0.388 36 120 --- --- --- --- PASS UGT2A3 79799 broad.mit.edu 37 4 69795618 69795618 + Silent SNP C G G TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr4:69795618C>G uc003hef.2 - 6 1528 c.1497G>C c.(1495-1497)GTG>GTC p.V499V UGT2A3_uc010ihp.1_RNA NM_024743 NP_079019 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, 499 Helical; (Potential). integral to membrane glucuronosyltransferase activity ovary(1)|skin(1) 2 TAGCAGTTGCCACACAGGCCA 0.413 33 96 --- --- --- --- PASS ADAMTS3 9508 broad.mit.edu 37 4 73184414 73184414 + Missense_Mutation SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr4:73184414C>A uc003hgk.1 - 10 1397 c.1360G>T c.(1360-1362)GAC>TAC p.D454Y NM_014243 NP_055058 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 454 Peptidase M12B. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) AGGAGACAGTCATAGGAACTG 0.328 27 60 --- --- --- --- PASS AFP 174 broad.mit.edu 37 4 74316386 74316386 + Missense_Mutation SNP G A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr4:74316386G>A uc003hgz.1 + 11 1391 c.1344G>A c.(1342-1344)ATG>ATA p.M448I AFP_uc003hha.1_Missense_Mutation_p.M448I|AFP_uc011cbg.1_Missense_Mutation_p.M222I NM_001134 NP_001125 P02771 FETA_HUMAN alpha-fetoprotein precursor 448 Albumin 3. transport metal ion binding ovary(1) 1 Breast(15;0.00102) Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CGGAGCTGATGGCCATCACCA 0.512 Alpha-Fetoprotein_Hereditary_Persistence_of 31 67 --- --- --- --- PASS CXCL2 2920 broad.mit.edu 37 4 74964371 74964371 + Silent SNP A G G TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr4:74964371A>G uc003hhm.3 - 3 415 c.255T>C c.(253-255)TGT>TGC p.C85C NM_002089 NP_002080 P19875 CXCL2_HUMAN chemokine (C-X-C motif) ligand 2 85 chemotaxis|immune response|inflammatory response|response to molecule of bacterial origin extracellular space|soluble fraction chemokine activity 0 Breast(15;0.00612) all cancers(17;0.00317)|Lung(101;0.196) CGGGGTTGAGACAAGCTTTCT 0.507 73 153 --- --- --- --- PASS GRID2 2895 broad.mit.edu 37 4 94031943 94031943 + Missense_Mutation SNP G A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr4:94031943G>A uc011cdt.1 + 4 832 c.574G>A c.(574-576)GGA>AGA p.G192R GRID2_uc010ikx.2_Missense_Mutation_p.G192R|GRID2_uc011cdu.1_Missense_Mutation_p.G97R|GRID2_uc011cdv.1_RNA NM_001510 NP_001501 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 192 Extracellular (Potential). glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(3)|skin(2)|large_intestine(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) CTCTCAGCAGGGAATGGATGT 0.398 87 155 --- --- --- --- PASS GRID2 2895 broad.mit.edu 37 4 94159546 94159546 + Missense_Mutation SNP G A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr4:94159546G>A uc011cdt.1 + 8 1408 c.1150G>A c.(1150-1152)GAG>AAG p.E384K GRID2_uc011cdu.1_Missense_Mutation_p.E289K|GRID2_uc010ikz.1_Missense_Mutation_p.E65K NM_001510 NP_001501 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 384 Extracellular (Potential). glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(3)|skin(2)|large_intestine(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) GTTGACTGGAGAGCTAGAATT 0.373 41 69 --- --- --- --- PASS NDST4 64579 broad.mit.edu 37 4 115891646 115891646 + Missense_Mutation SNP G T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr4:115891646G>T uc003ibu.2 - 4 1840 c.1161C>A c.(1159-1161)CAC>CAA p.H387Q NDST4_uc010imw.2_RNA NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN heparan sulfate N-deacetylase/N-sulfotransferase 387 Lumenal (Potential).|Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity skin(3)|ovary(1) 4 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) TGTGGAAGAGGTGGGGCTGCA 0.433 23 61 --- --- --- --- PASS C4orf31 79625 broad.mit.edu 37 4 121966948 121966948 + Silent SNP G A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr4:121966948G>A uc003idq.1 - 2 572 c.45C>T c.(43-45)CTC>CTT p.L15L NM_024574 NP_078850 Q8TB73 CD031_HUMAN hypothetical protein LOC79625 precursor 15 0 TCCTTGAGCTGAGTGGAAACA 0.498 20 54 --- --- --- --- PASS PRMT10 90826 broad.mit.edu 37 4 148559801 148559801 + Missense_Mutation SNP G C C TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr4:148559801G>C uc003ilc.2 - 12 2562 c.2420C>G c.(2419-2421)TCC>TGC p.S807C PRMT10_uc003ilb.2_Missense_Mutation_p.S451C|PRMT10_uc003ild.2_Missense_Mutation_p.S694C NM_138364 NP_612373 Q6P2P2 ANM10_HUMAN protein arginine methyltransferase 10 807 cytoplasm binding|protein methyltransferase activity ovary(1)|central_nervous_system(1) 2 TTTCCAGTGGGAGGCTTCACT 0.408 54 110 --- --- --- --- PASS FBXW7 55294 broad.mit.edu 37 4 153247289 153247289 + Missense_Mutation SNP G C C rs149680468 TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr4:153247289G>C uc003ims.2 - 10 1662 c.1513C>G c.(1513-1515)CGC>GGC p.R505G FBXW7_uc011cii.1_Missense_Mutation_p.R505G|FBXW7_uc003imt.2_Missense_Mutation_p.R505G|FBXW7_uc011cih.1_Missense_Mutation_p.R329G|FBXW7_uc003imq.2_Missense_Mutation_p.R425G|FBXW7_uc003imr.2_Missense_Mutation_p.R387G NM_033632 NP_361014 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7 isoform 505 WD 4. R -> L (in an ovarian cancer cell line). interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex protein binding|protein binding p.R505C(36)|p.R505L(6)|p.R505G(4)|p.R425C(2)|p.R425G(2)|p.R266G(2)|p.R505H(2)|p.R505S(1)|p.R505P(1)|p.R266C(1) haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1) 308 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TGAACACAGCGGACTGCTGCA 0.468 Mis|N|D|F colorectal|endometrial|T-ALL 86 180 --- --- --- --- PASS DCHS2 54798 broad.mit.edu 37 4 155219786 155219786 + Nonsense_Mutation SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr4:155219786C>A uc003inw.2 - 18 4315 c.4315G>T c.(4315-4317)GAG>TAG p.E1439* NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 1439 Cadherin 12. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) CTGATTTGCTCCCGGTCCAAA 0.413 53 109 --- --- --- --- PASS DCHS2 54798 broad.mit.edu 37 4 155312370 155312370 + Missense_Mutation SNP T C C TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr4:155312370T>C uc003inw.2 - 1 80 c.80A>G c.(79-81)GAT>GGT p.D27G DCHS2_uc003inx.2_Intron NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 27 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TACACAGGCATCAGTACTTTC 0.189 19 55 --- --- --- --- PASS SAP30 8819 broad.mit.edu 37 4 174292541 174292541 + Silent SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr4:174292541C>A uc003itd.2 + 1 449 c.208C>A c.(208-210)CGG>AGG p.R70R NM_003864 NP_003855 O75446 SAP30_HUMAN Sin3A-associated protein, 30kDa 70 Interaction with NCOR1 (By similarity).|Atypical. transcription, DNA-dependent histone deacetylase complex DNA binding|metal ion binding|protein binding|transcription corepressor activity ovary(1) 1 Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107) all cancers(43;1.15e-17)|Epithelial(43;4.33e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.62e-09)|STAD - Stomach adenocarcinoma(60;0.00278)|GBM - Glioblastoma multiforme(59;0.00659)|LUSC - Lung squamous cell carcinoma(193;0.0919) GTGCTGCCTGCGGGAGGATGG 0.438 17 36 --- --- --- --- PASS AGA 175 broad.mit.edu 37 4 178355561 178355561 + Missense_Mutation SNP C T T rs140337260 TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr4:178355561C>T uc003iuu.1 - 7 843 c.781G>A c.(781-783)GAT>AAT p.D261N AGA_uc010irt.1_RNA|AGA_uc003iuv.1_3'UTR NM_000027 NP_000018 P20933 ASPG_HUMAN aspartylglucosaminidase precursor 261 asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity 0 all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245) all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163) ATCAATATATCACCATTCCCA 0.428 58 119 --- --- --- --- PASS FAT1 2195 broad.mit.edu 37 4 187539606 187539606 + Missense_Mutation SNP C G G TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr4:187539606C>G uc003izf.2 - 10 8322 c.8134G>C c.(8134-8136)GTG>CTG p.V2712L NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 2712 Extracellular (Potential).|Cadherin 25. 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 TCCTCTGACACTGTAAAGGTA 0.423 HNSCC(5;0.00058) 64 182 --- --- --- --- PASS FAT1 2195 broad.mit.edu 37 4 187539651 187539651 + Nonsense_Mutation SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr4:187539651C>A uc003izf.2 - 10 8277 c.8089G>T c.(8089-8091)GAA>TAA p.E2697* NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 2697 Extracellular (Potential).|Cadherin 24. 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 AGCTGCATTTCCGGTGGAAGG 0.393 HNSCC(5;0.00058) 59 161 --- --- --- --- PASS ADAMTS16 170690 broad.mit.edu 37 5 5182325 5182325 + Missense_Mutation SNP A T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr5:5182325A>T uc003jdl.2 + 4 808 c.670A>T c.(670-672)AGG>TGG p.R224W ADAMTS16_uc003jdk.1_Missense_Mutation_p.R224W|ADAMTS16_uc003jdj.1_Missense_Mutation_p.R224W NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 224 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 GGTGACCTCAAGGACATGGGA 0.577 47 196 --- --- --- --- PASS KIAA0947 23379 broad.mit.edu 37 5 5462506 5462506 + Missense_Mutation SNP G A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr5:5462506G>A uc003jdm.3 + 13 3281 c.3059G>A c.(3058-3060)AGC>AAC p.S1020N NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN hypothetical protein LOC23379 1020 ovary(1)|central_nervous_system(1) 2 GAAGAAACCAGCTGTGGAGAC 0.502 50 310 --- --- --- --- PASS CTNND2 1501 broad.mit.edu 37 5 11199587 11199587 + Missense_Mutation SNP C T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr5:11199587C>T uc003jfa.1 - 11 2093 c.1948G>A c.(1948-1950)GAC>AAC p.D650N CTNND2_uc010itt.2_Missense_Mutation_p.D559N|CTNND2_uc011cmy.1_Missense_Mutation_p.D313N|CTNND2_uc011cmz.1_Missense_Mutation_p.D217N|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.D217N NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 650 ARM 4. multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 ATCTCCAGGTCAGTCGTCTTG 0.428 262 212 --- --- --- --- PASS TRIO 7204 broad.mit.edu 37 5 14374354 14374354 + Missense_Mutation SNP G A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr5:14374354G>A uc003jff.2 + 19 3239 c.3233G>A c.(3232-3234)CGG>CAG p.R1078Q TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.R1029Q|TRIO_uc003jfh.1_Missense_Mutation_p.R727Q NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 1078 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity p.R1078G(1) skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) ACCCTTGCTCGGAGGAATGCA 0.453 29 88 --- --- --- --- PASS PRDM9 56979 broad.mit.edu 37 5 23527437 23527437 + Missense_Mutation SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr5:23527437C>A uc003jgo.2 + 11 2422 c.2240C>A c.(2239-2241)CCC>CAC p.P747H NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 747 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 GGGGAGAAGCCCTATGTCTGC 0.587 HNSCC(3;0.000094) 206 210 --- --- --- --- PASS PRDM9 56979 broad.mit.edu 37 5 23527438 23527438 + Silent SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr5:23527438C>A uc003jgo.2 + 11 2423 c.2241C>A c.(2239-2241)CCC>CCA p.P747P NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 747 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 GGGAGAAGCCCTATGTCTGCA 0.582 HNSCC(3;0.000094) 208 211 --- --- --- --- PASS CDH9 1007 broad.mit.edu 37 5 26915941 26915941 + Missense_Mutation SNP G A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr5:26915941G>A uc003jgs.1 - 3 489 c.320C>T c.(319-321)ACA>ATA p.T107I CDH9_uc010iug.2_Missense_Mutation_p.T107I NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 107 Extracellular (Potential).|Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 AATGTCTCCTGTATTTTCATC 0.398 179 551 --- --- --- --- PASS HCN1 348980 broad.mit.edu 37 5 45462029 45462029 + Silent SNP G A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr5:45462029G>A uc003jok.2 - 3 955 c.930C>T c.(928-930)CAC>CAT p.H310H NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 310 Helical; Name=Segment S5; (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 AACCATCCCAGTGGCACAGGA 0.408 92 80 --- --- --- --- PASS POLK 51426 broad.mit.edu 37 5 74893773 74893773 + Missense_Mutation SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr5:74893773C>A uc003kdw.2 + 15 2639 c.2543C>A c.(2542-2544)ACA>AAA p.T848K POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc010izq.2_Missense_Mutation_p.T650K|POLK_uc003kec.2_Missense_Mutation_p.T758K|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_3'UTR|POLK_uc003kee.2_3'UTR|POLK_uc003kef.2_Missense_Mutation_p.T758K NM_016218 NP_057302 Q9UBT6 POLK_HUMAN DNA-directed DNA polymerase kappa 848 DNA replication|nucleotide-excision repair, DNA gap filling nucleus damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding ovary(2)|kidney(2) 4 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42) GGATTGATGACAAAGTACTCA 0.229 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 18 14 --- --- --- --- PASS MSH3 4437 broad.mit.edu 37 5 80169001 80169001 + Missense_Mutation SNP G A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr5:80169001G>A uc003kgz.2 + 23 3450 c.3197G>A c.(3196-3198)AGG>AAG p.R1066K NM_002439 NP_002430 P20585 MSH3_HUMAN mutS homolog 3 1066 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding lung(2)|ovary(1)|breast(1) 4 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) ATTGCAGCAAGGAGTTATGGA 0.398 MMR 150 74 --- --- --- --- PASS GPR98 84059 broad.mit.edu 37 5 89979655 89979655 + Missense_Mutation SNP G T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr5:89979655G>T uc003kju.2 + 28 6013 c.5917G>T c.(5917-5919)GAT>TAT p.D1973Y GPR98_uc003kjt.2_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 1973 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TTTGGCTAGTGATGATCCATA 0.403 28 13 --- --- --- --- PASS WDR36 134430 broad.mit.edu 37 5 110439942 110439942 + Missense_Mutation SNP A G G TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr5:110439942A>G uc003kpd.2 + 8 1082 c.965A>G c.(964-966)AAA>AGA p.K322R WDR36_uc010jbu.2_RNA NM_139281 NP_644810 Q8NI36 WDR36_HUMAN WD repeat domain 36 322 WD 3. response to stimulus|rRNA processing|visual perception small-subunit processome ovary(1)|skin(1) 2 all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111) CTAGAAGACAAAAAATTAATC 0.393 102 54 --- --- --- --- PASS FBN2 2201 broad.mit.edu 37 5 127681067 127681067 + Missense_Mutation SNP C G G TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr5:127681067C>G uc003kuu.2 - 24 3638 c.3199G>C c.(3199-3201)GGG>CGG p.G1067R FBN2_uc003kuv.2_Missense_Mutation_p.G1034R NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 1067 bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) AATGGCCGCCCAGTAAGAACA 0.562 84 63 --- --- --- --- PASS ADAMTS19 171019 broad.mit.edu 37 5 128864307 128864307 + Nonsense_Mutation SNP T A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr5:128864307T>A uc003kvb.1 + 6 1247 c.1247T>A c.(1246-1248)TTA>TAA p.L416* ADAMTS19_uc003kvc.1_RNA NM_133638 NP_598377 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 416 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|breast(2)|lung(1)|skin(1) 9 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) GATATACATTTAGAGATGTCA 0.358 66 115 --- --- --- --- PASS KIF20A 10112 broad.mit.edu 37 5 137522040 137522040 + Missense_Mutation SNP G C C TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr5:137522040G>C uc003lcj.2 + 18 2771 c.2275G>C c.(2275-2277)GAG>CAG p.E759Q KIF20A_uc011cyo.1_Missense_Mutation_p.E741Q NM_005733 NP_005724 O95235 KI20A_HUMAN kinesin family member 20A 759 Potential. cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport Golgi apparatus|microtubule|nucleoplasm ATP binding|microtubule motor activity|protein binding|transporter activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) CCAATCAGCAGAGAGAGCTTG 0.458 77 51 --- --- --- --- PASS PCDHB3 56132 broad.mit.edu 37 5 140481562 140481562 + Missense_Mutation SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr5:140481562C>A uc003lio.2 + 1 1329 c.1329C>A c.(1327-1329)GAC>GAA p.D443E uc003lin.2_Intron NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN protocadherin beta 3 precursor 443 Extracellular (Potential).|Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGGTCTCCGACGTCAATGACA 0.562 116 84 --- --- --- --- PASS PCDHGA8 9708 broad.mit.edu 37 5 140774623 140774623 + Missense_Mutation SNP C G G TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr5:140774623C>G uc003lkd.1 + 1 3141 c.2243C>G c.(2242-2244)GCT>GGT p.A748G PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.A748G NM_032088 NP_114477 Q9Y5G5 PCDG8_HUMAN protocadherin gamma subfamily A, 8 isoform 1 748 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGGTACAGGCTTTCCTGCAG 0.582 66 31 --- --- --- --- PASS ARAP3 64411 broad.mit.edu 37 5 141033816 141033816 + Missense_Mutation SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr5:141033816C>A uc003llm.2 - 33 4414 c.4336G>T c.(4336-4338)GAT>TAT p.D1446Y ARAP3_uc003lll.2_Missense_Mutation_p.D397Y|ARAP3_uc011dbe.1_Missense_Mutation_p.D1095Y|ARAP3_uc003lln.2_Missense_Mutation_p.D1277Y NM_022481 NP_071926 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 1446 cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding breast(5)|ovary(1)|large_intestine(1) 7 AAGGGTTGATCCAATGACTTC 0.607 116 64 --- --- --- --- PASS SPINK5 11005 broad.mit.edu 37 5 147491427 147491427 + Missense_Mutation SNP G T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr5:147491427G>T uc003lox.2 + 19 1862 c.1789G>T c.(1789-1791)GGC>TGC p.G597C SPINK5_uc010jgs.1_Missense_Mutation_p.G569C|SPINK5_uc010jgr.2_Missense_Mutation_p.G578C|SPINK5_uc003low.2_Missense_Mutation_p.G597C|SPINK5_uc003loy.2_Missense_Mutation_p.G597C NM_006846 NP_006837 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 isoform 597 Kazal-like 9. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity skin(2)|ovary(1)|breast(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAAAATCCACGGCAACACCTG 0.537 105 37 --- --- --- --- PASS AFAP1L1 134265 broad.mit.edu 37 5 148709278 148709278 + Silent SNP G C C TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr5:148709278G>C uc003lqh.2 + 16 1991 c.1860G>C c.(1858-1860)CGG>CGC p.R620R AFAP1L1_uc010jgy.2_Silent_p.R620R|AFAP1L1_uc003lqi.1_Silent_p.R235R NM_152406 NP_689619 Q8TED9 AF1L1_HUMAN actin filament associated protein 1-like 1 620 Potential. protein binding breast(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGATGCCCGGAGGTACTTGG 0.473 7 30 --- --- --- --- PASS ATP10B 23120 broad.mit.edu 37 5 160071204 160071204 + Missense_Mutation SNP A T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr5:160071204A>T uc003lym.1 - 9 1656 c.809T>A c.(808-810)CTG>CAG p.L270Q ATP10B_uc003lyp.2_Missense_Mutation_p.L270Q|ATP10B_uc011deg.1_Missense_Mutation_p.L314Q|ATP10B_uc003lyo.2_Missense_Mutation_p.L242Q NM_025153 NP_079429 O94823 AT10B_HUMAN ATPase, class V, type 10B 270 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GCCTCGAAGCAGAAGACTCTC 0.493 71 41 --- --- --- --- PASS GABRA1 2554 broad.mit.edu 37 5 161324136 161324136 + Missense_Mutation SNP C G G rs80337021 by1000genomes TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr5:161324136C>G uc010jiw.2 + 11 1547 c.1079C>G c.(1078-1080)CCT>CGT p.P360R GABRA1_uc010jix.2_Missense_Mutation_p.P360R|GABRA1_uc010jiy.2_Missense_Mutation_p.P360R|GABRA1_uc003lyx.3_Missense_Mutation_p.P360R|GABRA1_uc010jiz.2_Missense_Mutation_p.P360R|GABRA1_uc010jja.2_Missense_Mutation_p.P360R|GABRA1_uc010jjb.2_Missense_Mutation_p.P360R NM_000806 NP_000797 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 360 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|pancreas(1) 3 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) GTAAAGGATCCTCTTATTAAG 0.433 135 81 --- --- --- --- PASS DOCK2 1794 broad.mit.edu 37 5 169423111 169423111 + Silent SNP C T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr5:169423111C>T uc003maf.2 + 30 3095 c.3015C>T c.(3013-3015)AAC>AAT p.N1005N DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.N497N NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1005 Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GAGCTATCAACAAGTTTGCAG 0.478 23 61 --- --- --- --- PASS HRH2 3274 broad.mit.edu 37 5 175110705 175110705 + Missense_Mutation SNP G T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr5:175110705G>T uc003mdd.2 + 1 2242 c.469G>T c.(469-471)GGG>TGG p.G157W HRH2_uc003mdc.3_Missense_Mutation_p.G157W NM_022304 NP_071640 P25021 HRH2_HUMAN histamine receptor H2 isoform 2 157 Helical; Name=4; (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|immune response integral to plasma membrane histamine receptor activity ovary(1) 1 all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149) Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863) TATCCACCTGGGGTGGAACAG 0.547 31 72 --- --- --- --- PASS DSP 1832 broad.mit.edu 37 6 7572250 7572250 + Silent SNP A T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr6:7572250A>T uc003mxp.1 + 15 2358 c.2079A>T c.(2077-2079)CTA>CTT p.L693L DSP_uc003mxq.1_Silent_p.L693L NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 693 Globular 1. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) ACCTCCCTCTAGCAGACCAGG 0.438 22 58 --- --- --- --- PASS C6orf105 84830 broad.mit.edu 37 6 11768579 11768579 + Missense_Mutation SNP T C C TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr6:11768579T>C uc003nab.2 - 2 479 c.191A>G c.(190-192)GAT>GGT p.D64G C6orf105_uc011dip.1_Missense_Mutation_p.D82G NM_032744 NP_116133 Q96IZ2 CF105_HUMAN hypothetical protein LOC84830 isoform 2 64 Helical; (Potential). integral to membrane 0 Ovarian(93;0.0848)|Breast(50;0.0871) all_hematologic(90;0.135) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.193) CAGCACATCATCCAGGCAGGT 0.418 87 184 --- --- --- --- PASS OR2B3 442184 broad.mit.edu 37 6 29054114 29054114 + Silent SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr6:29054114C>A uc003nlx.2 - 1 977 c.912G>T c.(910-912)CTG>CTT p.L304L NM_001005226 NP_001005226 olfactory receptor, family 2, subfamily B, skin(1) 1 TTCTTGGCATCAGCCTCTTGA 0.378 51 48 --- --- --- --- PASS MUC21 394263 broad.mit.edu 37 6 30954401 30954401 + Missense_Mutation SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr6:30954401C>A uc003nsh.2 + 2 700 c.449C>A c.(448-450)GCC>GAC p.A150D MUC21_uc003nsi.1_RNA NM_001010909 NP_001010909 Q5SSG8 MUC21_HUMAN mucin 21 precursor 150 Ser-rich.|28 X 15 AA approximate tandem repeats.|9.|Extracellular (Potential). integral to membrane|plasma membrane ovary(1)|skin(1) 2 GCTAGCACAGCCACCAACTCT 0.617 103 215 --- --- --- --- PASS CDKN1A 1026 broad.mit.edu 37 6 36652195 36652195 + Missense_Mutation SNP C T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr6:36652195C>T uc003omm.3 + 2 439 c.317C>T c.(316-318)GCA>GTA p.A106V CDKN1A_uc011dtq.1_Missense_Mutation_p.A140V|CDKN1A_uc003oml.2_Missense_Mutation_p.A106V|CDKN1A_uc003omn.2_Missense_Mutation_p.A106V NM_000389 NP_000380 P38936 CDN1A_HUMAN cyclin-dependent kinase inhibitor 1A 106 cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding ovary(1)|breast(1) 2 CAGGGGACAGCAGAGGAAGAC 0.657 Multiple_Endocrine_Neoplasia_type_1 17 33 --- --- --- --- PASS CUL9 23113 broad.mit.edu 37 6 43189039 43189039 + Silent SNP G A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr6:43189039G>A uc003ouk.2 + 34 6807 c.6732G>A c.(6730-6732)GAG>GAA p.E2244E CUL9_uc003oul.2_Silent_p.E2216E|CUL9_uc010jyk.2_Silent_p.E1396E|CUL9_uc003oun.2_Silent_p.E39E NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN p53-associated parkin-like cytoplasmic protein 2244 RING-type 2. ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1) 12 CTCCCATCGAGAAGAACGAGG 0.637 24 56 --- --- --- --- PASS GPR116 221395 broad.mit.edu 37 6 46832859 46832859 + Missense_Mutation SNP G C C TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr6:46832859G>C uc003oyo.3 - 14 2199 c.1910C>G c.(1909-1911)ACT>AGT p.T637S GPR116_uc011dwj.1_Missense_Mutation_p.T192S|GPR116_uc011dwk.1_Missense_Mutation_p.T66S|GPR116_uc003oyp.3_Missense_Mutation_p.T495S|GPR116_uc003oyq.3_Missense_Mutation_p.T637S|GPR116_uc010jzi.1_Missense_Mutation_p.T309S NM_001098518 NP_001091988 Q8IZF2 GP116_HUMAN G-protein coupled receptor 116 precursor 637 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|skin(1) 2 Lung(136;0.192) CACATCAACAGTTTTTGAACA 0.358 135 58 --- --- --- --- PASS LMBRD1 55788 broad.mit.edu 37 6 70490434 70490434 + Missense_Mutation SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr6:70490434C>A uc003pfa.2 - 3 374 c.259G>T c.(259-261)GCT>TCT p.A87S LMBRD1_uc003pez.2_Missense_Mutation_p.A14S|LMBRD1_uc010kal.2_Missense_Mutation_p.A14S|LMBRD1_uc003pfb.2_RNA NM_018368 NP_060838 Q9NUN5 LMBD1_HUMAN liver regeneration p-53 related protein 87 Extracellular (Potential). interspecies interaction between organisms|transport integral to membrane|lysosomal membrane cobalamin binding ovary(1) 1 CTGACATTAGCATTAGCCCAG 0.333 58 40 --- --- --- --- PASS GRIK2 2898 broad.mit.edu 37 6 102074484 102074484 + Silent SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr6:102074484C>A uc003pqp.3 + 3 762 c.513C>A c.(511-513)ACC>ACA p.T171T GRIK2_uc003pqn.2_Silent_p.T171T|GRIK2_uc003pqo.3_Silent_p.T171T|GRIK2_uc010kcw.2_Silent_p.T171T NM_021956 NP_068775 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 171 Extracellular (Potential). glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity ovary(2)|pancreas(1)|breast(1)|skin(1) 5 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) AGTGGAAAACCGTCACGGTTG 0.408 34 105 --- --- --- --- PASS REV3L 5980 broad.mit.edu 37 6 111694235 111694235 + Missense_Mutation SNP A G G TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr6:111694235A>G uc003puy.3 - 13 5646 c.5323T>C c.(5323-5325)TCT>CCT p.S1775P REV3L_uc003pux.3_Missense_Mutation_p.S1697P|REV3L_uc003puz.3_Missense_Mutation_p.S1697P NM_002912 NP_002903 O60673 DPOLZ_HUMAN DNA polymerase zeta 1775 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) TTCAATCTAGATTTTTCACTT 0.403 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 116 220 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152652799 152652799 + Missense_Mutation SNP T A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr6:152652799T>A uc010kiw.2 - 78 13623 c.13021A>T c.(13021-13023)ACC>TCC p.T4341S SYNE1_uc003qot.3_Missense_Mutation_p.T4270S|SYNE1_uc003qou.3_Missense_Mutation_p.T4341S|SYNE1_uc010kiz.2_Missense_Mutation_p.T96S NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4341 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) TCCAAGTTGGTGACTGACACT 0.458 HNSCC(10;0.0054) 155 82 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152730772 152730772 + Silent SNP G A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr6:152730772G>A uc010kiw.2 - 43 6905 c.6303C>T c.(6301-6303)GTC>GTT p.V2101V SYNE1_uc003qot.3_Silent_p.V2108V|SYNE1_uc003qou.3_Silent_p.V2101V|SYNE1_uc010kjb.1_Silent_p.V2084V NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2101 Cytoplasmic (Potential).|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) CATTTTCTAAGACTTTAGATA 0.333 HNSCC(10;0.0054) 34 78 --- --- --- --- PASS IQCE 23288 broad.mit.edu 37 7 2617966 2617966 + Missense_Mutation SNP G A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr7:2617966G>A uc003smo.3 + 7 740 c.556G>A c.(556-558)GAG>AAG p.E186K IQCE_uc010ksm.1_Missense_Mutation_p.E186K|IQCE_uc003sml.1_Missense_Mutation_p.E186K|IQCE_uc011jvy.1_Missense_Mutation_p.E170K|IQCE_uc011jvz.1_Missense_Mutation_p.E121K|IQCE_uc003smk.3_Missense_Mutation_p.E170K|IQCE_uc003smn.3_Missense_Mutation_p.E121K NM_152558 NP_689771 Q6IPM2 IQCE_HUMAN IQ motif containing E isoform 1 186 Potential. 0 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.23e-13) CCGGCAGATAGAGCAGCTCCT 0.632 107 58 --- --- --- --- PASS DGKB 1607 broad.mit.edu 37 7 14622694 14622694 + Missense_Mutation SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr7:14622694C>A uc003ssz.2 - 17 1692 c.1505G>T c.(1504-1506)TGG>TTG p.W502L DGKB_uc011jxt.1_Missense_Mutation_p.W483L|DGKB_uc003sta.2_Missense_Mutation_p.W502L|DGKB_uc011jxu.1_Missense_Mutation_p.W501L NM_004080 NP_004071 Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta isoform 1 502 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding lung(5)|ovary(4)|breast(2)|skin(1) 12 Phosphatidylserine(DB00144) ATCCAAAACCCAGCCCACGGT 0.408 45 38 --- --- --- --- PASS STK31 56164 broad.mit.edu 37 7 23871951 23871951 + Missense_Mutation SNP A T T rs33998018 byFrequency TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr7:23871951A>T uc003sws.3 + 24 3093 c.3026A>T c.(3025-3027)AAG>ATG p.K1009M STK31_uc003swt.3_Missense_Mutation_p.K986M|STK31_uc011jze.1_Missense_Mutation_p.K986M|STK31_uc010kuq.2_Missense_Mutation_p.K986M|STK31_uc003swv.1_Missense_Mutation_p.K175M NM_031414 NP_113602 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 isoform a 1009 Protein kinase. ATP binding|nucleic acid binding|protein serine/threonine kinase activity skin(3)|lung(2)|ovary(2)|stomach(2) 9 TGTATGGAGAAGACAAGAAAT 0.318 51 220 --- --- --- --- PASS HOXA11 3207 broad.mit.edu 37 7 27224431 27224431 + Silent SNP C T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr7:27224431C>T uc003syx.2 - 1 405 c.333G>A c.(331-333)TCG>TCA p.S111S HOXA11_uc003syy.2_RNA|HOXA11AS_uc003syz.1_5'Flank NM_005523 NP_005514 P31270 HXA11_HUMAN homeobox A11 111 branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation protein-DNA complex|transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(1)|breast(1) 2 AGACGTTGGCCGAGCTCTTGG 0.657 T NUP98 CML 128 70 --- --- --- --- PASS NOD1 10392 broad.mit.edu 37 7 30492391 30492391 + Silent SNP C T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr7:30492391C>T uc003tav.2 - 6 1165 c.642G>A c.(640-642)CGG>CGA p.R214R NOD1_uc010kvs.2_Intron NM_006092 NP_006083 Q9Y239 NOD1_HUMAN nucleotide-binding oligomerization domain 214 NACHT. activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway basolateral plasma membrane|cytosol ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity ovary(1)|skin(1) 2 GGCTCTGCAGCCGCTGTAGCA 0.602 58 173 --- --- --- --- PASS TBX20 57057 broad.mit.edu 37 7 35289771 35289771 + Missense_Mutation SNP G T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr7:35289771G>T uc011kas.1 - 2 183 c.172C>A c.(172-174)CTG>ATG p.L58M NM_001077653 NP_001071121 Q9UMR3 TBX20_HUMAN T-box transcription factor TBX20 58 nucleus DNA binding central_nervous_system(1) 1 AGGCTGGTCAGCTCACCCAGG 0.562 46 40 --- --- --- --- PASS POM121L12 285877 broad.mit.edu 37 7 53103841 53103841 + Silent SNP C T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr7:53103841C>T uc003tpz.2 + 1 493 c.477C>T c.(475-477)CGC>CGT p.R159R NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 159 0 AGAGAgcccgccccgcaggcc 0.592 46 26 --- --- --- --- PASS SEMA3E 9723 broad.mit.edu 37 7 83014679 83014679 + Nonsense_Mutation SNP A T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr7:83014679A>T uc003uhy.1 - 16 2272 c.1806T>A c.(1804-1806)TGT>TGA p.C602* NM_012431 NP_036563 O15041 SEM3E_HUMAN semaphorin 3E precursor 602 Ig-like C2-type. axon guidance extracellular space|membrane receptor activity ovary(3) 3 Medulloblastoma(109;0.109) ATCGTGGGGTACATTCCAGCA 0.398 388 91 --- --- --- --- PASS ABCB1 5243 broad.mit.edu 37 7 87183214 87183214 + Missense_Mutation SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr7:87183214C>A uc003uiz.1 - 10 1280 c.862G>T c.(862-864)GGG>TGG p.G288W ABCB1_uc011khc.1_Missense_Mutation_p.G224W NM_000927 NP_000918 P08183 MDR1_HUMAN ATP-binding cassette, subfamily B, member 1 288 ABC transmembrane type-1 1. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) TTCTTTATCCCAATTCTTTTA 0.353 149 59 --- --- --- --- PASS DBF4 10926 broad.mit.edu 37 7 87537407 87537407 + Missense_Mutation SNP G C C TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr7:87537407G>C uc003ujf.1 + 12 2458 c.1954G>C c.(1954-1956)GAG>CAG p.E652Q DBF4_uc003ujh.1_Missense_Mutation_p.E392Q|DBF4_uc003ujg.1_Missense_Mutation_p.E428Q|DBF4_uc011khf.1_Missense_Mutation_p.E419Q NM_006716 NP_006707 Q9UBU7 DBF4A_HUMAN activator of S phase kinase 652 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding lung(2) 2 Esophageal squamous(14;0.00202) Breast(660;0.0334) TATTTGGGAAGAGGAAAATTC 0.333 114 28 --- --- --- --- PASS ZNF804B 219578 broad.mit.edu 37 7 88965553 88965553 + Missense_Mutation SNP C A A rs141579525 byFrequency TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr7:88965553C>A uc011khi.1 + 4 3795 c.3257C>A c.(3256-3258)ACT>AAT p.T1086N NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 1086 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) ACTGGTGTGACTGATTCAACA 0.353 HNSCC(36;0.09) 108 23 --- --- --- --- PASS PRKAR2B 5577 broad.mit.edu 37 7 106786829 106786829 + Missense_Mutation SNP G T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr7:106786829G>T uc003vdx.2 + 6 839 c.664G>T c.(664-666)GGC>TGC p.G222C NM_002736 NP_002727 P31323 KAP3_HUMAN cAMP-dependent protein kinase, regulatory 222 cAMP 1. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport centrosome|cytosol|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity ovary(1) 1 TGGGAGTTTCGGCGAACTGGC 0.428 172 45 --- --- --- --- PASS DNAJB9 4189 broad.mit.edu 37 7 108213723 108213723 + Missense_Mutation SNP A G G TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr7:108213723A>G uc003vfn.2 + 3 800 c.598A>G c.(598-600)AGC>GGC p.S200G NM_012328 NP_036460 Q9UBS3 DNJB9_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 9 200 ER-associated protein catabolic process|protein folding endoplasmic reticulum|nucleolus heat shock protein binding|misfolded protein binding|unfolded protein binding 0 TCATGGATCTAGCAAGCACTG 0.368 264 76 --- --- --- --- PASS FEZF1 389549 broad.mit.edu 37 7 121942061 121942061 + Missense_Mutation SNP C T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr7:121942061C>T uc003vkd.2 - 4 1492 c.1418G>A c.(1417-1419)GGC>GAC p.G473D FEZF1_uc003vkc.2_Missense_Mutation_p.G423D|uc010lko.1_5'Flank NM_001024613 NP_001019784 A0PJY2 FEZF1_HUMAN FEZ family zinc finger 1 isoform 1 473 cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|breast(1) 3 TCACTGGTGGCCCTGGTGGAG 0.393 78 27 --- --- --- --- PASS SLC13A1 6561 broad.mit.edu 37 7 122774573 122774573 + Missense_Mutation SNP C T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr7:122774573C>T uc003vkm.2 - 8 848 c.823G>A c.(823-825)GAC>AAC p.D275N SLC13A1_uc010lks.2_Missense_Mutation_p.D151N NM_022444 NP_071889 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate 275 integral to membrane|plasma membrane sodium:sulfate symporter activity ovary(2) 2 Succinic acid(DB00139) CAACGACAGTCAGGATAGCGT 0.483 101 34 --- --- --- --- PASS OPN1SW 611 broad.mit.edu 37 7 128412600 128412600 + Silent SNP G C C TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr7:128412600G>C uc003vnt.3 - 5 1041 c.1041C>G c.(1039-1041)CCC>CCG p.P347P NM_001708 NP_001699 P03999 OPSB_HUMAN opsin 1 (cone pigments), short-wave-sensitive 347 Cytoplasmic (Potential). phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity 0 GTCCTCAGTTGGGGCCAACTT 0.423 130 36 --- --- --- --- PASS AKR1B10 57016 broad.mit.edu 37 7 134222968 134222968 + Missense_Mutation SNP A C C TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr7:134222968A>C uc003vrr.2 + 8 1084 c.764A>C c.(763-765)CAG>CCG p.Q255P NM_020299 NP_064695 O60218 AK1BA_HUMAN aldo-keto reductase family 1, member B10 255 cellular aldehyde metabolic process|digestion|steroid metabolic process cytoplasm aldo-keto reductase (NADP) activity|protein binding skin(5) 5 TTCCATATCCAGAGGAATGTG 0.488 337 117 --- --- --- --- PASS KLRG2 346689 broad.mit.edu 37 7 139168033 139168033 + Missense_Mutation SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr7:139168033C>A uc003vvb.2 - 1 425 c.356G>T c.(355-357)TGG>TTG p.W119L KLRG2_uc010lnc.2_Missense_Mutation_p.W119L NM_198508 NP_940910 A4D1S0 KLRG2_HUMAN killer cell lectin-like receptor subfamily G, 119 Pro-rich. integral to membrane sugar binding central_nervous_system(1) 1 Melanoma(164;0.233) CATGGGCGCCCAGGCGCTGGG 0.746 27 2 --- --- --- --- PASS ZNF775 285971 broad.mit.edu 37 7 150095047 150095047 + Missense_Mutation SNP G T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr7:150095047G>T uc003whf.1 + 3 1603 c.1478G>T c.(1477-1479)CGG>CTG p.R493L LOC728743_uc003whg.2_5'Flank NM_173680 NP_775951 Q96BV0 ZN775_HUMAN zinc finger protein 775 493 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(565;0.183)|Melanoma(164;0.226) OV - Ovarian serous cystadenocarcinoma(82;0.0173) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) ACGCGGCACCGGCGCAACCAC 0.721 10 22 --- --- --- --- PASS CSMD1 64478 broad.mit.edu 37 8 2964070 2964070 + Missense_Mutation SNP C T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr8:2964070C>T uc011kwk.1 - 46 7322 c.6932G>A c.(6931-6933)GGT>GAT p.G2311D CSMD1_uc011kwj.1_Missense_Mutation_p.G1703D|CSMD1_uc010lrg.2_Missense_Mutation_p.G379D NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2311 Extracellular (Potential).|Sushi 13. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TGGGAGAGAACCCTCAAACTG 0.433 14 42 --- --- --- --- PASS DOK2 9046 broad.mit.edu 37 8 21769789 21769789 + Missense_Mutation SNP G T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr8:21769789G>T uc003wzy.1 - 2 389 c.296C>A c.(295-297)GCA>GAA p.A99E DOK2_uc003wzx.1_Missense_Mutation_p.A99E|DOK2_uc003wzz.1_5'UTR|DOK2_uc010lth.1_Intron NM_003974 NP_003965 O60496 DOK2_HUMAN docking protein 2 99 PH. blood coagulation|leukocyte migration cytosol identical protein binding|insulin receptor binding 0 Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608) GCGCTCCGCTGCAGGGGCCGC 0.736 5 8 --- --- --- --- PASS ADAM7 8756 broad.mit.edu 37 8 24304711 24304711 + Missense_Mutation SNP G A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr8:24304711G>A uc003xeb.2 + 3 282 c.169G>A c.(169-171)GAA>AAA p.E57K ADAM7_uc003xea.1_Missense_Mutation_p.E57K NM_003817 NP_003808 Q9H2U9 ADAM7_HUMAN a disintegrin and metalloproteinase domain 7 57 Extracellular (Potential). proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding skin(3)|ovary(1)|kidney(1) 5 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) AACGTATGAAGAAGAATTGTT 0.353 44 116 --- --- --- --- PASS UNC5D 137970 broad.mit.edu 37 8 35631845 35631845 + Missense_Mutation SNP C T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr8:35631845C>T uc003xjr.1 + 16 2835 c.2507C>T c.(2506-2508)GCA>GTA p.A836V UNC5D_uc003xjs.1_Missense_Mutation_p.A831V|UNC5D_uc003xju.1_Missense_Mutation_p.A412V NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 836 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) ACTTTCTTCGCACAAGAGGAC 0.428 39 228 --- --- --- --- PASS ADAM9 8754 broad.mit.edu 37 8 38940183 38940183 + Silent SNP A T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr8:38940183A>T uc003xmr.2 + 17 1983 c.1905A>T c.(1903-1905)GTA>GTT p.V635V ADAM9_uc011lcf.1_RNA|ADAM9_uc011lcg.1_Intron|ADAM9_uc010lwr.2_RNA|ADAM9_uc003xms.2_RNA NM_003816 NP_003807 Q13443 ADAM9_HUMAN ADAM metallopeptidase domain 9 isoform 1 635 Extracellular (Potential). activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway extracellular space|extracellular space|integral to membrane|intrinsic to external side of plasma membrane collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153) LUSC - Lung squamous cell carcinoma(45;2.74e-07) TCCAGTGTGTAGATGCTTCTG 0.264 35 225 --- --- --- --- PASS SOX17 64321 broad.mit.edu 37 8 55371731 55371731 + Silent SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr8:55371731C>A uc003xsb.3 + 2 625 c.421C>A c.(421-423)CGG>AGG p.R141R NM_022454 NP_071899 Q9H6I2 SOX17_HUMAN SRY-box 17 141 angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway transcription factor complex beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding lung(1) 1 Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159) CCGGCCGCGGCGGCGCAAGCA 0.741 3 9 --- --- --- --- PASS RP1 6101 broad.mit.edu 37 8 55542773 55542773 + Missense_Mutation SNP G A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr8:55542773G>A uc003xsd.1 + 4 6479 c.6331G>A c.(6331-6333)GTT>ATT p.V2111I RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 2111 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TATTTGCCAAGTTGAGACCTC 0.333 76 83 --- --- --- --- PASS ADHFE1 137872 broad.mit.edu 37 8 67369056 67369056 + Missense_Mutation SNP G A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr8:67369056G>A uc003xwb.3 + 11 1025 c.991G>A c.(991-993)GGA>AGA p.G331R ADHFE1_uc003xwd.3_RNA|ADHFE1_uc003xwc.3_Missense_Mutation_p.G283R|ADHFE1_uc003xwe.3_RNA|ADHFE1_uc003xwf.3_RNA|ADHFE1_uc011les.1_Missense_Mutation_p.G261R NM_144650 NP_653251 Q8IWW8 HOT_HUMAN alcohol dehydrogenase, iron containing, 1 331 2-oxoglutarate metabolic process|molecular hydrogen transport mitochondrial matrix hydroxyacid-oxoacid transhydrogenase activity|metal ion binding ovary(1)|lung(1)|breast(1)|skin(1) 4 Lung NSC(129;0.197) Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226) TTCTAGCCATGGAATGTCTTA 0.348 21 92 --- --- --- --- PASS E2F5 1875 broad.mit.edu 37 8 86118434 86118434 + Missense_Mutation SNP G A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr8:86118434G>A uc003ycz.3 + 4 566 c.529G>A c.(529-531)GAC>AAC p.D177N E2F5_uc003yda.3_Missense_Mutation_p.D177N|E2F5_uc010mab.2_Missense_Mutation_p.D16N|E2F5_uc003ydb.3_5'UTR NM_001951 NP_001942 Q15329 E2F5_HUMAN E2F transcription factor 5 isoform 1 177 Dimerization (Potential). G1 phase of mitotic cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(1) 1 AACTCATGAAGACATCTGTAA 0.368 19 118 --- --- --- --- PASS CNGB3 54714 broad.mit.edu 37 8 87679296 87679296 + Missense_Mutation SNP G T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr8:87679296G>T uc003ydx.2 - 6 755 c.709C>A c.(709-711)CCA>ACA p.P237T CNGB3_uc010maj.2_Missense_Mutation_p.P99T NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 237 Helical; Name=H1; (Potential). signal transduction|visual perception integral to membrane cGMP binding ovary(2)|pancreas(1) 3 AGGCGCAGTGGTATAAAACAG 0.423 68 75 --- --- --- --- PASS DCAF4L2 138009 broad.mit.edu 37 8 88885771 88885771 + Silent SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr8:88885771C>A uc003ydz.2 - 1 526 c.429G>T c.(427-429)CTG>CTT p.L143L NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C 143 ovary(1) 1 CGAAGCACAGCAGAAGGTGGG 0.562 50 150 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113259299 113259299 + Missense_Mutation SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr8:113259299C>A uc003ynu.2 - 64 10331 c.10172G>T c.(10171-10173)CGC>CTC p.R3391L CSMD3_uc003yns.2_Missense_Mutation_p.R2593L|CSMD3_uc003ynt.2_Missense_Mutation_p.R3351L|CSMD3_uc011lhx.1_Missense_Mutation_p.R3222L NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3391 Extracellular (Potential).|Sushi 27. 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 GAGGCAGGTGCGTGTTGTAGA 0.398 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 44 64 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113484893 113484893 + Silent SNP T G G TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr8:113484893T>G uc003ynu.2 - 32 5481 c.5322A>C c.(5320-5322)CTA>CTC p.L1774L CSMD3_uc003yns.2_Silent_p.L1046L|CSMD3_uc003ynt.2_Silent_p.L1734L|CSMD3_uc011lhx.1_Silent_p.L1670L NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1774 Extracellular (Potential).|CUB 10. 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 AGTTTGGTGATAGAACAGTGC 0.343 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 34 90 --- --- --- --- PASS KCNK9 51305 broad.mit.edu 37 8 140631126 140631126 + Missense_Mutation SNP C G G TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr8:140631126C>G uc003yvf.1 - 2 564 c.500G>C c.(499-501)TGC>TCC p.C167S KCNK9_uc003yvg.1_Missense_Mutation_p.C167S|KCNK9_uc003yve.1_RNA NM_016601 NP_057685 Q9NPC2 KCNK9_HUMAN potassium channel, subfamily K, member 9 167 Helical; (Potential). integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity ovary(2)|lung(1) 3 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) CGTCCCCATGCAGGAGAAGAA 0.557 42 66 --- --- --- --- PASS MIR661 724031 broad.mit.edu 37 8 145019424 145019424 + RNA SNP C T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr8:145019424C>T hsa-mir-661|MI0003669 - c.24C>T PLEC_uc003zac.1_5'Flank|PLEC_uc003zad.2_5'Flank|PLEC_uc003zae.1_5'Flank|PLEC_uc003zaf.1_Intron|PLEC_uc003zag.1_Intron|PLEC_uc003zah.2_Intron|PLEC_uc003zaj.2_Intron 0 CAGGCCTGCGCCTGCCCCACA 0.697 5 13 --- --- --- --- PASS GLIS3 169792 broad.mit.edu 37 9 4117993 4117993 + Silent SNP G A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr9:4117993G>A uc003zhw.1 - 3 1214 c.1020C>T c.(1018-1020)GGC>GGT p.G340G GLIS3_uc003zhx.1_Silent_p.G495G|GLIS3_uc003zic.1_Silent_p.G495G|GLIS3_uc003zie.1_Silent_p.G495G|GLIS3_uc010mhh.1_Silent_p.G370G|GLIS3_uc003zid.1_Silent_p.G273G|GLIS3_uc010mhi.1_Silent_p.G302G|GLIS3_uc003zif.1_Silent_p.G273G|GLIS3_uc003zig.1_Silent_p.G339G|GLIS3_uc003zih.1_Silent_p.G273G|GLIS3_uc003zhy.1_Silent_p.G273G|GLIS3_uc003zhz.1_Silent_p.G273G|GLIS3_uc003zib.1_Silent_p.G339G|GLIS3_uc010mhg.1_Silent_p.G273G NM_152629 NP_689842 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 isoform b 340 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) TGCCCCCGATGCCGTCCATCT 0.682 29 122 --- --- --- --- PASS C9orf68 55064 broad.mit.edu 37 9 4625422 4625422 + Missense_Mutation SNP T G G TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr9:4625422T>G uc011llz.1 - 5 638 c.400A>C c.(400-402)ACC>CCC p.T134P C9orf68_uc003zik.2_RNA|C9orf68_uc003zil.2_RNA|C9orf68_uc010mhj.2_Missense_Mutation_p.T192P|C9orf68_uc011lly.1_Missense_Mutation_p.T69P NM_001039395 NP_001034484 B4DIY4 B4DIY4_HUMAN hypothetical protein LOC55064 134 0 Breast(48;0.0456) GBM - Glioblastoma multiforme(50;0.0222) AAATGCCTGGTAGAATATTGA 0.433 30 128 --- --- --- --- PASS TRPM3 80036 broad.mit.edu 37 9 73213485 73213485 + Silent SNP G C C rs145029936 TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr9:73213485G>C uc004aid.2 - 20 3106 c.2862C>G c.(2860-2862)GTC>GTG p.V954V TRPM3_uc004ahu.2_Silent_p.V784V|TRPM3_uc004ahv.2_Silent_p.V756V|TRPM3_uc004ahw.2_Silent_p.V826V|TRPM3_uc004ahx.2_Silent_p.V813V|TRPM3_uc004ahy.2_Silent_p.V816V|TRPM3_uc004ahz.2_Silent_p.V803V|TRPM3_uc004aia.2_Silent_p.V801V|TRPM3_uc004aib.2_Silent_p.V791V|TRPM3_uc004aic.2_Silent_p.V954V NM_001007471 NP_001007472 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, 979 Helical; (Potential). integral to membrane calcium channel activity ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2) 9 GGATCATTCCGACAGAAAACA 0.498 48 67 --- --- --- --- PASS FLJ46321 389763 broad.mit.edu 37 9 84607401 84607401 + Silent SNP C T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr9:84607401C>T uc004amn.2 + 4 2063 c.2016C>T c.(2014-2016)ATC>ATT p.I672I NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 672 integral to membrane 0 CGATCTCCATCATTCCTGGAG 0.502 53 141 --- --- --- --- PASS HIATL1 84641 broad.mit.edu 37 9 97203277 97203277 + Missense_Mutation SNP G A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr9:97203277G>A uc004aur.2 + 5 675 c.406G>A c.(406-408)GCG>ACG p.A136T HIATL1_uc011luh.1_Missense_Mutation_p.A71T NM_032558 NP_115947 Q5SR56 HIAL1_HUMAN hippocampus abundant transcript-like 1 136 Helical; (Potential). transmembrane transport integral to membrane|plasma membrane protein binding|transporter activity ovary(2) 2 Acute lymphoblastic leukemia(62;0.136) GTGGTATTTTGCGATGATTTC 0.408 159 54 --- --- --- --- PASS ZNF883 169834 broad.mit.edu 37 9 115760384 115760384 + Silent SNP C T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr9:115760384C>T uc011lwy.1 - 5 1395 c.156G>A c.(154-156)CGG>CGA p.R52R NM_001101338 NP_001094808 P0CG24 ZN883_HUMAN hypothetical protein LOC169834 52 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GATTACTGTTCCGGGTAAAGG 0.373 30 76 --- --- --- --- PASS TNC 3371 broad.mit.edu 37 9 117808740 117808740 + Nonsense_Mutation SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr9:117808740C>A uc004bjj.3 - 17 5436 c.5074G>T c.(5074-5076)GGA>TGA p.G1692* TNC_uc010mvf.2_Intron NM_002160 NP_002151 P24821 TENA_HUMAN tenascin C precursor 1692 Fibronectin type-III 12. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 7 TTGCTTATTCCATAGAGTTCA 0.458 136 440 --- --- --- --- PASS SLC27A4 10999 broad.mit.edu 37 9 131117388 131117388 + Missense_Mutation SNP G T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr9:131117388G>T uc004but.2 + 10 1665 c.1381G>T c.(1381-1383)GAT>TAT p.D461Y SLC27A4_uc004buu.2_Intron NM_005094 NP_005085 Q6P1M0 S27A4_HUMAN solute carrier family 27 (fatty acid 461 long-chain fatty acid transport|transmembrane transport integral to membrane fatty acid transporter activity|nucleotide binding|protein binding 0 GCGCCGCTTCGATGGCTACCT 0.622 17 42 --- --- --- --- PASS DOLK 22845 broad.mit.edu 37 9 131708257 131708257 + Silent SNP G A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr9:131708257G>A uc004bwr.2 - 1 1756 c.1326C>T c.(1324-1326)GCC>GCT p.A442A NUP188_uc004bws.1_5'Flank|NUP188_uc004bwq.1_Intron NM_014908 NP_055723 Q9UPQ8 DOLK_HUMAN dolichol kinase 442 Helical; (Potential). dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to endoplasmic reticulum membrane|membrane fraction dolichol kinase activity 0 CCAGGACACCGGCATAGGGGA 0.607 90 135 --- --- --- --- PASS PTPLA 9200 broad.mit.edu 37 10 17646017 17646017 + Missense_Mutation SNP C A A rs150586011 TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr10:17646017C>A uc001ipg.2 - 2 322 c.287G>T c.(286-288)CGT>CTT p.R96L PTPLA_uc001iph.1_Missense_Mutation_p.R96L NM_014241 NP_055056 B0YJ81 HACD1_HUMAN protein tyrosine phosphatase-like, member A 96 Lumenal (Potential). fatty acid biosynthetic process|multicellular organismal development|signal transduction endoplasmic reticulum membrane|integral to membrane lyase activity|protein tyrosine phosphatase activity central_nervous_system(1)|skin(1) 2 CATATAAAAACGTACCATGGC 0.289 15 80 --- --- --- --- PASS MKX 283078 broad.mit.edu 37 10 28032179 28032179 + Missense_Mutation SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr10:28032179C>A uc001ity.3 - 2 391 c.166G>T c.(166-168)GGC>TGC p.G56C MKX_uc001itx.3_Missense_Mutation_p.G56C NM_173576 NP_775847 Q8IYA7 MKX_HUMAN mohawk homeobox 56 muscle organ development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 TGTCTCAGGCCGAGGTTGTCC 0.751 8 17 --- --- --- --- PASS ZWINT 11130 broad.mit.edu 37 10 58119447 58119447 + Splice_Site SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr10:58119447C>A uc001jjx.1 - 4 460 c.423_splice c.e4+1 p.K141_splice ZWINT_uc001jjy.1_Splice_Site_p.K141_splice|ZWINT_uc001jka.1_Splice_Site_p.K141_splice|ZWINT_uc009xoy.1_Splice_Site NM_007057 NP_008988 O95229 ZWINT_HUMAN ZW10 interactor isoform a cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytosol|nucleus protein N-terminus binding 0 CCTGGGTGTACCTTGGCCTGG 0.547 124 303 --- --- --- --- PASS PPP3CB 5532 broad.mit.edu 37 10 75198107 75198107 + Missense_Mutation SNP C G G TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr10:75198107C>G uc001jue.2 - 14 1603 c.1468G>C c.(1468-1470)GAG>CAG p.E490Q PPP3CB_uc001juf.2_Missense_Mutation_p.E491Q|PPP3CB_uc001jug.2_Missense_Mutation_p.E481Q|PPP3CB_uc010qkj.1_Missense_Mutation_p.E118Q NM_021132 NP_066955 P16298 PP2BB_HUMAN protein phosphatase 3, catalytic subunit, beta 490 Inhibitory domain. skin(1) 1 Prostate(51;0.0119) GGCATTCTCTCATTGATCCTA 0.448 52 155 --- --- --- --- PASS C10orf4 118924 broad.mit.edu 37 10 95441274 95441274 + Silent SNP T C C TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr10:95441274T>C uc001kiz.1 - 11 948 c.750A>G c.(748-750)TTA>TTG p.L250L C10orf4_uc001kiv.1_RNA|C10orf4_uc001kja.1_Silent_p.L250L NM_145246 NP_660289 Q70Z53 F10C1_HUMAN FRA10AC1 protein 250 Lys-rich. nucleus protein binding 0 Colorectal(252;0.122) CTGCAGAAGATAATCTGGATT 0.303 28 62 --- --- --- --- PASS C10orf129 142827 broad.mit.edu 37 10 96967139 96967139 + Missense_Mutation SNP A T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr10:96967139A>T uc001kke.2 + 4 703 c.578A>T c.(577-579)TAT>TTT p.Y193F C10orf129_uc009xuu.1_Missense_Mutation_p.Y103F NM_207321 NP_997204 Q6P461 ACSM6_HUMAN acyl-coenzyme A synthetase ACSM6, mitochondrial 193 fatty acid metabolic process mitochondrion ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding 0 Colorectal(252;0.083) Epithelial(162;1.64e-06)|all cancers(201;3.71e-05) GATAAGAGCTATGATGGGTGG 0.428 55 90 --- --- --- --- PASS PLEKHA1 59338 broad.mit.edu 37 10 124177449 124177449 + Missense_Mutation SNP G T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr10:124177449G>T uc001lge.1 + 8 769 c.646G>T c.(646-648)GAT>TAT p.D216Y PLEKHA1_uc001lgf.1_Missense_Mutation_p.D216Y|PLEKHA1_uc001lgg.1_Missense_Mutation_p.D216Y|PLEKHA1_uc001lgh.2_Missense_Mutation_p.D216Y NM_001001974 NP_001001974 Q9HB21 PKHA1_HUMAN pleckstrin homology domain containing, family A 216 PH 2. 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) TTTTCAATTGGATGAAAACAC 0.323 31 126 --- --- --- --- PASS C10orf137 26098 broad.mit.edu 37 10 127441453 127441453 + Missense_Mutation SNP C G G TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr10:127441453C>G uc001liq.1 + 23 3656 c.3363C>G c.(3361-3363)ATC>ATG p.I1121M C10orf137_uc001lio.1_Missense_Mutation_p.I1087M|C10orf137_uc001lip.1_Missense_Mutation_p.I825M|C10orf137_uc001lis.1_Missense_Mutation_p.I447M|C10orf137_uc001lit.1_Missense_Mutation_p.I31M NM_015608 NP_056423 Q3B7T1 EDRF1_HUMAN erythroid differentiation-related factor 1 1121 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding ovary(5)|large_intestine(3)|lung(2) 10 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) TCCAGCTTATCCAGAAGGAGC 0.353 48 209 --- --- --- --- PASS FANK1 92565 broad.mit.edu 37 10 127684007 127684007 + Missense_Mutation SNP A C C TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr10:127684007A>C uc001ljh.3 + 4 442 c.338A>C c.(337-339)CAC>CCC p.H113P FANK1_uc010quk.1_3'UTR|FANK1_uc009yan.2_Missense_Mutation_p.H139P|FANK1_uc001lji.2_Missense_Mutation_p.H107P NM_145235 NP_660278 Q8TC84 FANK1_HUMAN fibronectin type III and ankyrin repeat domains 113 ANK 1. cytoplasm|nucleus ovary(1) 1 all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936) AGTAGTGAGCACTTGCACCGG 0.502 82 62 --- --- --- --- PASS FAM196A 642938 broad.mit.edu 37 10 128936119 128936119 + Nonsense_Mutation SNP C T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr10:128936119C>T uc001lju.1 - 3 1463 c.1422G>A c.(1420-1422)TGG>TGA p.W474* DOCK1_uc001ljt.2_Intron|DOCK1_uc010qun.1_Intron|FAM196A_uc010quo.1_Nonsense_Mutation_p.W450*|FAM196A_uc001ljv.1_Nonsense_Mutation_p.W474*|FAM196A_uc009yap.1_Nonsense_Mutation_p.W450* NM_001039762 NP_001034851 Q6ZSG2 F196A_HUMAN hypothetical protein LOC642938 474 ovary(2) 2 ACCAGAGTTTCCATCTTCCGT 0.433 268 205 --- --- --- --- PASS EBF3 253738 broad.mit.edu 37 10 131666117 131666117 + Missense_Mutation SNP C T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr10:131666117C>T uc001lki.1 - 9 873 c.814G>A c.(814-816)GTC>ATC p.V272I NM_001005463 NP_001005463 Q9H4W6 COE3_HUMAN early B-cell factor 3 281 IPT/TIG. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|pancreas(1) 2 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) ATTATGATGACGGTGGCACCC 0.577 32 114 --- --- --- --- PASS PSMD13 5719 broad.mit.edu 37 11 237137 237137 + Missense_Mutation SNP A T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr11:237137A>T uc001lol.2 + 1 330 c.88A>T c.(88-90)ACG>TCG p.T30S SIRT3_uc001loj.3_5'Flank|SIRT3_uc001lok.3_5'Flank|SIRT3_uc010qvm.1_5'Flank|SIRT3_uc010qvn.1_5'Flank|SIRT3_uc010qvo.1_5'Flank|SIRT3_uc010qvp.1_5'Flank|SIRT3_uc010qvq.1_5'Flank|SIRT3_uc009ybt.1_5'Flank|PSMD13_uc010qvr.1_RNA|PSMD13_uc001loo.2_Missense_Mutation_p.T30S|PSMD13_uc001lon.2_5'UTR|PSMD13_uc001lom.2_5'UTR NM_002817 NP_002808 Q9UNM6 PSD13_HUMAN proteasome 26S non-ATPase subunit 13 isoform 1 30 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle protein binding ovary(1) 1 all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.79e-27)|Epithelial(43;4e-26)|OV - Ovarian serous cystadenocarcinoma(40;6.02e-21)|BRCA - Breast invasive adenocarcinoma(625;3.93e-05)|Lung(200;0.112)|LUSC - Lung squamous cell carcinoma(625;0.129) GGAGCTCTACACGAAGAAGTG 0.682 9 41 --- --- --- --- PASS MUC6 4588 broad.mit.edu 37 11 1020131 1020131 + Missense_Mutation SNP G T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr11:1020131G>T uc001lsw.2 - 29 3818 c.3767C>A c.(3766-3768)CCA>CAA p.P1256Q NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN mucin 6, gastric 1256 Pro-rich.|Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent ovary(1) 1 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GAGCGTGGCTGGAAGGAGGGG 0.642 12 29 --- --- --- --- PASS MUC5B 727897 broad.mit.edu 37 11 1162244 1162244 + Missense_Mutation SNP C T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr11:1162244C>T uc009ycr.1 + 16 1879 c.1753C>T c.(1753-1755)CTC>TTC p.L585F NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 576 VWFD 2. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CTTCCGGACCCTCAGTGGGGT 0.642 10 33 --- --- --- --- PASS UBQLN3 50613 broad.mit.edu 37 11 5530016 5530016 + Missense_Mutation SNP T C C TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr11:5530016T>C uc001may.1 - 2 859 c.773A>G c.(772-774)TAC>TGC p.Y258C HBG2_uc001mak.1_Intron NM_017481 NP_059509 Q9H347 UBQL3_HUMAN ubiquilin 3 258 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) AATATCTGTGTACATAGTGCA 0.522 127 135 --- --- --- --- PASS OR56B4 196335 broad.mit.edu 37 11 6129308 6129308 + Silent SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr11:6129308C>A uc010qzx.1 + 1 300 c.300C>A c.(298-300)CTC>CTA p.L100L NM_001005181 NP_001005181 Q8NH76 O56B4_HUMAN olfactory receptor, family 56, subfamily B, 100 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCATTAGCCTCCCCATGTGTT 0.502 58 168 --- --- --- --- PASS E2F8 79733 broad.mit.edu 37 11 19246331 19246331 + Silent SNP G A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr11:19246331G>A uc001mpm.2 - 13 3000 c.2478C>T c.(2476-2478)ACC>ACT p.T826T E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_Silent_p.T826T NM_024680 NP_078956 A0AVK6 E2F8_HUMAN E2F family member 8 826 cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 GTCCACCTGGGGTACGGAAGA 0.488 45 131 --- --- --- --- PASS RCN1 5954 broad.mit.edu 37 11 32122142 32122142 + Missense_Mutation SNP G A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr11:32122142G>A uc010reb.1 + 4 942 c.676G>A c.(676-678)GAT>AAT p.D226N RCN1_uc010rea.1_Missense_Mutation_p.D175N|RCN1_uc001mtk.2_Missense_Mutation_p.D60N NM_002901 NP_002892 Q15293 RCN1_HUMAN reticulocalbin 1 precursor 226 4 (Potential).|EF-hand 4. endoplasmic reticulum lumen calcium ion binding large_intestine(1) 1 Lung SC(675;0.225) TGTGGATCAGGATGAGTATAT 0.512 29 82 --- --- --- --- PASS DEPDC7 91614 broad.mit.edu 37 11 33049272 33049272 + Missense_Mutation SNP G C C TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr11:33049272G>C uc001mub.2 + 3 597 c.505G>C c.(505-507)GCC>CCC p.A169P DEPDC7_uc010reh.1_Missense_Mutation_p.A169P|DEPDC7_uc001muc.2_Missense_Mutation_p.A160P NM_001077242 NP_001070710 Q96QD5 DEPD7_HUMAN novel 58.3 KDA protein isoform 1 169 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(1)|skin(1) 2 TATCAGATCAGCCAGTTTAGA 0.279 15 73 --- --- --- --- PASS RAG1 5896 broad.mit.edu 37 11 36597771 36597771 + Missense_Mutation SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr11:36597771C>A uc001mwu.3 + 2 3041 c.2917C>A c.(2917-2919)CGC>AGC p.R973S RAG1_uc001mwt.2_Intron NM_000448 NP_000439 P15918 RAG1_HUMAN recombination activating gene 1 973 histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1) 5 all_lung(20;0.226) all_hematologic(20;0.107) ACTGTTTAGGCGCTTCCGGAA 0.468 Familial_Hemophagocytic_Lymphohistiocytosis 57 177 --- --- --- --- PASS ALKBH3 221120 broad.mit.edu 37 11 43923105 43923105 + Missense_Mutation SNP G C C TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr11:43923105G>C uc001mxs.2 + 8 942 c.499G>C c.(499-501)GAG>CAG p.E167Q ALKBH3_uc009ykp.2_RNA|ALKBH3_uc001mxt.2_RNA|ALKBH3_uc009ykq.2_Missense_Mutation_p.E20Q NM_139178 NP_631917 Q96Q83 ALKB3_HUMAN AlkB homolog 3 167 DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation mitochondrion|nucleoplasm damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 Vitamin C(DB00126) CCGCATTGAAGAGAACACTGG 0.507 Direct_reversal_of_damage 84 92 --- --- --- --- PASS OR4X1 390113 broad.mit.edu 37 11 48285677 48285677 + Missense_Mutation SNP G C C TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr11:48285677G>C uc010rht.1 + 1 265 c.265G>C c.(265-267)GTC>CTC p.V89L NM_001004726 NP_001004726 Q8NH49 OR4X1_HUMAN olfactory receptor, family 4, subfamily X, 89 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 CAAGAGGAAAGTCATTTCTCT 0.468 40 141 --- --- --- --- PASS FOLH1 2346 broad.mit.edu 37 11 49178359 49178359 + Missense_Mutation SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr11:49178359C>A uc001ngy.2 - 15 1794 c.1533G>T c.(1531-1533)AGG>AGT p.R511S FOLH1_uc001ngx.2_5'Flank|FOLH1_uc001ngz.2_Missense_Mutation_p.R511S|FOLH1_uc009yly.2_Missense_Mutation_p.R496S|FOLH1_uc009ylz.2_Missense_Mutation_p.R496S|FOLH1_uc009yma.2_Missense_Mutation_p.R203S NM_004476 NP_004467 Q04609 FOLH1_HUMAN folate hydrolase 1 isoform 1 511 NAALADase.|Extracellular (Probable). proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity large_intestine(1)|ovary(1)|skin(1) 3 Capromab(DB00089)|L-Glutamic Acid(DB00142) ATTTGCTTATCCTTTTAGAGA 0.328 30 142 --- --- --- --- PASS OR5D14 219436 broad.mit.edu 37 11 55563389 55563389 + Missense_Mutation SNP A G G TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr11:55563389A>G uc010rim.1 + 1 358 c.358A>G c.(358-360)ATG>GTG p.M120V NM_001004735 NP_001004735 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, 120 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 all_epithelial(135;0.196) GCTGGCAGTGATGGCCTATGA 0.507 32 100 --- --- --- --- PASS OR5D18 219438 broad.mit.edu 37 11 55587515 55587515 + Missense_Mutation SNP T A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr11:55587515T>A uc010rin.1 + 1 410 c.410T>A c.(409-411)ATG>AAG p.M137K NM_001001952 NP_001001952 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, 137 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.208) ACAGTTAACATGTCCCAGAAA 0.468 96 366 --- --- --- --- PASS OR8H2 390151 broad.mit.edu 37 11 55872720 55872720 + Missense_Mutation SNP T C C TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr11:55872720T>C uc010riy.1 + 1 202 c.202T>C c.(202-204)TCA>CCA p.S68P NM_001005200 NP_001005200 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, 68 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Esophageal squamous(21;0.00693) TACTCACCTGTCATTTATTGA 0.428 HNSCC(53;0.14) 180 649 --- --- --- --- PASS OR5J2 282775 broad.mit.edu 37 11 55944987 55944987 + Missense_Mutation SNP G T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr11:55944987G>T uc010rjb.1 + 1 894 c.894G>T c.(892-894)AAG>AAT p.K298N NM_001005492 NP_001005492 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, 298 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|large_intestine(1)|breast(1)|pancreas(1) 4 Esophageal squamous(21;0.00693) AGGACGTAAAGGAGGCAGTGA 0.373 25 64 --- --- --- --- PASS TNKS1BP1 85456 broad.mit.edu 37 11 57080095 57080095 + Silent SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr11:57080095C>A uc001njr.2 - 4 2379 c.2067G>T c.(2065-2067)CTG>CTT p.L689L TNKS1BP1_uc001njs.2_Silent_p.L689L|TNKS1BP1_uc009ymd.1_Silent_p.L140L NM_033396 NP_203754 Q9C0C2 TB182_HUMAN tankyrase 1-binding protein 1 689 Pro-rich.|Acidic. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding skin(1) 1 all_epithelial(135;0.21) GTGGTGAAGCCAGGAGGTCGT 0.632 47 46 --- --- --- --- PASS MPEG1 219972 broad.mit.edu 37 11 58978896 58978896 + Silent SNP G A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr11:58978896G>A uc001nnu.3 - 1 1599 c.1443C>T c.(1441-1443)GGC>GGT p.G481G NM_001039396 NP_001034485 Q2M385 MPEG1_HUMAN macrophage expressed gene 1 precursor 481 Extracellular (Potential). integral to membrane ovary(1)|skin(1) 2 all_epithelial(135;0.125) TGCTGAAGAGGCCCCCAAAAA 0.483 47 136 --- --- --- --- PASS MS4A14 84689 broad.mit.edu 37 11 60184273 60184273 + Missense_Mutation SNP C T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr11:60184273C>T uc001npj.2 + 5 2397 c.1832C>T c.(1831-1833)GCC>GTC p.A611V MS4A14_uc001npi.2_Missense_Mutation_p.A499V|MS4A14_uc001npn.2_Missense_Mutation_p.A349V|MS4A14_uc001npk.2_Missense_Mutation_p.A594V|MS4A14_uc001npl.2_Missense_Mutation_p.A349V|MS4A14_uc001npm.2_Missense_Mutation_p.A349V NM_032597 NP_115986 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 611 Gln-rich. integral to membrane receptor activity breast(1) 1 GACCAGCCGGCCCAAGAGAAG 0.453 16 55 --- --- --- --- PASS INTS5 80789 broad.mit.edu 37 11 62415818 62415818 + Missense_Mutation SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr11:62415818C>A uc001nud.2 - 2 1787 c.1734G>T c.(1732-1734)TTG>TTT p.L578F GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank NM_030628 NP_085131 Q6P9B9 INT5_HUMAN integrator complex subunit 5 578 snRNA processing integral to membrane|integrator complex protein binding ovary(2) 2 CTAGCAGTGCCAAGTTGCGCA 0.647 66 74 --- --- --- --- PASS NAALADL1 10004 broad.mit.edu 37 11 64825411 64825411 + Missense_Mutation SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr11:64825411C>A uc001ocn.2 - 3 432 c.416G>T c.(415-417)GGG>GTG p.G139V NAALADL1_uc010rnw.1_5'UTR NM_005468 NP_005459 Q9UQQ1 NALDL_HUMAN N-acetylated alpha-linked acidic 139 Extracellular (Potential). proteolysis apical plasma membrane|integral to membrane carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity 0 CCCTTGCTCCCCGGTCACGTT 0.652 88 216 --- --- --- --- PASS LRP5 4041 broad.mit.edu 37 11 68205913 68205913 + Splice_Site SNP G C C TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr11:68205913G>C uc001ont.2 + 20 4187 c.4112_splice c.e20-1 p.E1371_splice LRP5_uc009ysg.2_Splice_Site_p.E781_splice NM_002335 NP_002326 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1) 7 GTCTCTGGCAGAAATCACCAA 0.602 30 165 --- --- --- --- PASS TYR 7299 broad.mit.edu 37 11 88911393 88911393 + Missense_Mutation SNP G T T rs137854890 TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr11:88911393G>T uc001pcs.2 + 1 354 c.272G>T c.(271-273)TGC>TTC p.C91F NM_000372 NP_000363 P14679 TYRO_HUMAN tyrosinase precursor 91 Lumenal, melanosome (Potential). eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) ACCTGCCAGTGCTCTGGCAAC 0.502 Oculocutaneous_Albinism 24 59 --- --- --- --- PASS CCDC67 159989 broad.mit.edu 37 11 93097425 93097425 + Missense_Mutation SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr11:93097425C>A uc001pdq.2 + 5 497 c.397C>A c.(397-399)CCC>ACC p.P133T CCDC67_uc001pdo.1_Missense_Mutation_p.P133T|CCDC67_uc001pdp.2_Missense_Mutation_p.P133T NM_181645 NP_857596 Q05D60 CCD67_HUMAN coiled-coil domain containing 67 133 Potential. ovary(1) 1 Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824) AGAAGAAATACCCTTTGAACT 0.308 15 26 --- --- --- --- PASS CCDC67 159989 broad.mit.edu 37 11 93097426 93097426 + Missense_Mutation SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr11:93097426C>A uc001pdq.2 + 5 498 c.398C>A c.(397-399)CCC>CAC p.P133H CCDC67_uc001pdo.1_Missense_Mutation_p.P133H|CCDC67_uc001pdp.2_Missense_Mutation_p.P133H NM_181645 NP_857596 Q05D60 CCD67_HUMAN coiled-coil domain containing 67 133 Potential. ovary(1) 1 Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824) GAAGAAATACCCTTTGAACTG 0.303 14 26 --- --- --- --- PASS HEPHL1 341208 broad.mit.edu 37 11 93806219 93806219 + Missense_Mutation SNP G T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr11:93806219G>T uc001pep.2 + 7 1418 c.1261G>T c.(1261-1263)GAC>TAC p.D421Y uc001pen.1_Intron NM_001098672 NP_001092142 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 precursor 421 Plastocyanin-like 3.|Extracellular (Potential). copper ion transport integral to membrane copper ion binding|oxidoreductase activity ovary(3) 3 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) CACACAAGGGGACAACAGAAT 0.378 23 42 --- --- --- --- PASS PANX1 24145 broad.mit.edu 37 11 93913172 93913172 + Missense_Mutation SNP T A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr11:93913172T>A uc001per.2 + 4 1335 c.950T>A c.(949-951)GTT>GAT p.V317D PANX1_uc001peq.2_Missense_Mutation_p.V317D NM_015368 NP_056183 Q96RD7 PANX1_HUMAN pannexin 1 317 Cytoplasmic (Potential). positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission bleb|endoplasmic reticulum membrane|gap junction|integral to membrane calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding 0 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) ACTTTTGATGTTCTGCATTTC 0.428 43 148 --- --- --- --- PASS MMP8 4317 broad.mit.edu 37 11 102587099 102587099 + Missense_Mutation SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr11:102587099C>A uc001phe.2 - 6 935 c.836G>T c.(835-837)TGT>TTT p.C279F MMP8_uc010rut.1_Missense_Mutation_p.C214F|MMP8_uc010ruu.1_Missense_Mutation_p.C256F NM_002424 NP_002415 P22894 MMP8_HUMAN matrix metalloproteinase 8 preproprotein 279 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding ovary(3)|breast(1) 4 all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189) BRCA - Breast invasive adenocarcinoma(274;0.0141) ACTGGGGTCACAGGGTTTGGG 0.363 55 190 --- --- --- --- PASS DDI1 414301 broad.mit.edu 37 11 103908027 103908027 + Silent SNP G A A rs56847546 byFrequency TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr11:103908027G>A uc001phr.2 + 1 720 c.477G>A c.(475-477)CTG>CTA p.L159L PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron NM_001001711 NP_001001711 Q8WTU0 DDI1_HUMAN DDI1, DNA-damage inducible 1, homolog 1 159 proteolysis aspartic-type endopeptidase activity large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1) 5 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) ATCTGTCCCTGCTCAAGGAAC 0.622 71 78 --- --- --- --- PASS GUCY1A2 2977 broad.mit.edu 37 11 106680922 106680922 + Missense_Mutation SNP T A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr11:106680922T>A uc001pjg.1 - 5 1879 c.1489A>T c.(1489-1491)ATT>TTT p.I497F GUCY1A2_uc010rvo.1_Missense_Mutation_p.I518F|GUCY1A2_uc009yxn.1_Missense_Mutation_p.I497F NM_000855 NP_000846 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 497 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding large_intestine(3)|lung(2)|pancreas(2)|ovary(1) 8 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) CCAGGGAAAATAGAATATAGA 0.418 45 136 --- --- --- --- PASS NPAT 4863 broad.mit.edu 37 11 108044095 108044095 + Missense_Mutation SNP G A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr11:108044095G>A uc001pjz.3 - 13 1718 c.1616C>T c.(1615-1617)TCA>TTA p.S539L NPAT_uc001pka.2_Missense_Mutation_p.S334L NM_002519 NP_002510 Q14207 NPAT_HUMAN nuclear protein, ataxia-telangiectasia locus 539 positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity ovary(2) 2 all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116) TCCAGTTAATGAAGTATCTTG 0.299 22 104 --- --- --- --- PASS OR8B8 26493 broad.mit.edu 37 11 124310260 124310260 + Missense_Mutation SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr11:124310260C>A uc010sal.1 - 1 722 c.722G>T c.(721-723)TGC>TTC p.C241F NM_012378 NP_036510 Q15620 OR8B8_HUMAN olfactory receptor, family 8, subfamily B, 241 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) GTGGGAGCTGCAGGTGCTGAA 0.488 163 168 --- --- --- --- PASS ARHGAP32 9743 broad.mit.edu 37 11 128840518 128840518 + Missense_Mutation SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr11:128840518C>A uc009zcp.2 - 22 4548 c.4548G>T c.(4546-4548)CAG>CAT p.Q1516H ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.Q475H|ARHGAP32_uc001qez.2_Missense_Mutation_p.Q1167H NM_001142685 NP_001136157 A7KAX9 RHG32_HUMAN Rho GTPase-activating protein isoform 1 1516 Interaction with GAB2. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding lung(3)|ovary(2) 5 ACACTTGGTGCTGCTCCAATT 0.502 35 104 --- --- --- --- PASS CLECL1 160365 broad.mit.edu 37 12 9885654 9885654 + Silent SNP C T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr12:9885654C>T uc001qwj.2 - 1 207 c.207G>A c.(205-207)GTG>GTA p.V69V NM_172004 NP_742001 Q8IZS7 CLCL1_HUMAN type II transmembrane protein DCAL1 69 Helical; Signal-anchor for type II membrane protein; (Potential). integral to membrane|plasma membrane sugar binding 0 GAGAGAAGACCACAAATGATG 0.443 37 126 --- --- --- --- PASS CLEC9A 283420 broad.mit.edu 37 12 10215708 10215708 + Missense_Mutation SNP A G G TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr12:10215708A>G uc001qxa.2 + 7 987 c.374A>G c.(373-375)TAC>TGC p.Y125C NM_207345 NP_997228 Q6UXN8 CLC9A_HUMAN C-type lectin domain family 9, member A 125 Extracellular (Potential).|C-type lectin. positive regulation of cytokine secretion|receptor-mediated endocytosis cell surface|integral to membrane receptor activity|sugar binding ovary(1) 1 GAAAGTTGTTACTATGTCTCT 0.343 110 109 --- --- --- --- PASS SLCO1A2 6579 broad.mit.edu 37 12 21471727 21471727 + Missense_Mutation SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr12:21471727C>A uc001rer.2 - 2 442 c.191G>T c.(190-192)AGC>ATC p.S64I SLCO1A2_uc001res.2_Missense_Mutation_p.S64I|SLCO1A2_uc010siq.1_5'UTR|SLCO1A2_uc010sio.1_5'UTR|SLCO1A2_uc010sip.1_Intron|SLCO1A2_uc001ret.2_Missense_Mutation_p.S62I|SLCO1A2_uc001reu.2_Missense_Mutation_p.S44I NM_021094 NP_066580 P46721 SO1A2_HUMAN organic anion transporting polypeptide A 64 Helical; Name=2; (Potential). bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(1)|pancreas(1)|ovary(1)|skin(1) 4 AATCTCAAAGCTTCCATTAAT 0.323 23 30 --- --- --- --- PASS ABCD2 225 broad.mit.edu 37 12 39967633 39967633 + Missense_Mutation SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr12:39967633C>A uc001rmb.2 - 9 2314 c.1888G>T c.(1888-1890)GCC>TCC p.A630S NM_005164 NP_005155 Q9UBJ2 ABCD2_HUMAN ATP-binding cassette, sub-family D, member 2 630 ABC transporter. fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1) 6 TCCAGCAAGGCATATTTTGGT 0.338 38 127 --- --- --- --- PASS ADAMTS20 80070 broad.mit.edu 37 12 43750293 43750293 + Silent SNP T C C TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr12:43750293T>C uc010skx.1 - 38 5637 c.5637A>G c.(5635-5637)AGA>AGG p.R1879R NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 1879 GON. 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) TTACCTCTGATCTTCGTATGC 0.413 17 21 --- --- --- --- PASS ADAMTS20 80070 broad.mit.edu 37 12 43862455 43862455 + Missense_Mutation SNP C G G TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr12:43862455C>G uc010skx.1 - 8 1171 c.1171G>C c.(1171-1173)GAA>CAA p.E391Q NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 391 Peptidase M12B. 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) CCTTTTTCTTCATTAATAAAG 0.343 22 109 --- --- --- --- PASS SLC38A4 55089 broad.mit.edu 37 12 47172328 47172328 + Missense_Mutation SNP T C C TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr12:47172328T>C uc001rpi.2 - 11 1348 c.949A>G c.(949-951)AGT>GGT p.S317G SLC38A4_uc001rpj.2_Missense_Mutation_p.S317G NM_018018 NP_060488 Q969I6 S38A4_HUMAN solute carrier family 38, member 4 317 Extracellular (Potential). cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity ovary(2)|central_nervous_system(1)|skin(1) 4 Lung SC(27;0.192)|Renal(347;0.236) TTGTCATCACTATGAGCTTCA 0.453 39 110 --- --- --- --- PASS COL2A1 1280 broad.mit.edu 37 12 48380866 48380866 + Nonsense_Mutation SNP G A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr12:48380866G>A uc001rqu.2 - 21 1541 c.1360C>T c.(1360-1362)CAG>TAG p.Q454* COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Nonsense_Mutation_p.Q385* NM_001844 NP_001835 P02458 CO2A1_HUMAN collagen, type II, alpha 1 isoform 1 precursor 454 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) CTTACCGTCTGACCTTTCGGG 0.627 69 215 --- --- --- --- PASS MLL2 8085 broad.mit.edu 37 12 49415826 49415826 + Missense_Mutation SNP C G G TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr12:49415826C>G uc001rta.3 - 53 16521 c.16521G>C c.(16519-16521)GAG>GAC p.E5507D NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 5507 SET. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 TTCCTCTCACCTCCTCTCCTT 0.522 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 164 172 --- --- --- --- PASS KRT3 3850 broad.mit.edu 37 12 53189257 53189257 + Missense_Mutation SNP C G G TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr12:53189257C>G uc001say.2 - 1 636 c.570G>C c.(568-570)CAG>CAC p.Q190H NM_057088 NP_476429 P12035 K2C3_HUMAN keratin 3 190 Head. epithelial cell differentiation|intermediate filament cytoskeleton organization keratin filament structural molecule activity 0 CTTGCCCAATCTGGGGGTCGA 0.537 41 134 --- --- --- --- PASS ITGA7 3679 broad.mit.edu 37 12 56078923 56078923 + Silent SNP G A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr12:56078923G>A uc001shh.2 - 25 3565 c.3345C>T c.(3343-3345)GGC>GGT p.G1115G ITGA7_uc001shg.2_Silent_p.G1111G|ITGA7_uc010sps.1_Silent_p.G1018G|ITGA7_uc001shf.2_3'UTR|ITGA7_uc009znw.2_Silent_p.G358G|ITGA7_uc009znx.2_Silent_p.G992G NM_001144996 NP_001138468 Q13683 ITA7_HUMAN integrin alpha 7 isoform 1 precursor 1155 Cytoplasmic (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 GTGCATCCGGGCCCTCCCGCC 0.667 29 29 --- --- --- --- PASS TIMELESS 8914 broad.mit.edu 37 12 56817237 56817237 + Nonsense_Mutation SNP G A A rs149262573 TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr12:56817237G>A uc001slf.2 - 18 2281 c.2113C>T c.(2113-2115)CGA>TGA p.R705* NM_003920 NP_003911 Q9UNS1 TIM_HUMAN timeless homolog 705 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin ovary(5)|breast(2)|pancreas(1) 8 ACATAGGCTCGAACGACAGTT 0.507 50 101 --- --- --- --- PASS AVPR1A 552 broad.mit.edu 37 12 63544455 63544455 + Missense_Mutation SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr12:63544455C>A uc001sro.1 - 1 2136 c.162G>T c.(160-162)GAG>GAT p.E54D NM_000706 NP_000697 P37288 V1AR_HUMAN arginine vasopressin receptor 1A 54 Helical; Name=1; (Potential). activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity 0 BRCA - Breast invasive adenocarcinoma(9;0.193) GBM - Glioblastoma multiforme(28;0.0569) Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067) GCACGGCGATCTCCAGTTTGG 0.701 40 72 --- --- --- --- PASS IRAK3 11213 broad.mit.edu 37 12 66641937 66641937 + Missense_Mutation SNP T C C TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr12:66641937T>C uc001sth.2 + 12 1879 c.1777T>C c.(1777-1779)TAC>CAC p.Y593H IRAK3_uc010ssy.1_Missense_Mutation_p.Y532H NM_007199 NP_009130 Q9Y616 IRAK3_HUMAN interleukin-1 receptor-associated kinase 3 593 interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan cytoplasm|nucleus ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity lung(3)|ovary(2)|breast(2)|central_nervous_system(1) 8 GBM - Glioblastoma multiforme(28;0.0203) ATATGAACAGTACAAAAAAGA 0.418 34 82 --- --- --- --- PASS ZFC3H1 196441 broad.mit.edu 37 12 72057113 72057113 + Missense_Mutation SNP G A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr12:72057113G>A uc001swo.2 - 1 637 c.278C>T c.(277-279)TCT>TTT p.S93F ZFC3H1_uc010sts.1_Missense_Mutation_p.S93F|ZFC3H1_uc001swp.2_Missense_Mutation_p.S93F|THAP2_uc001swq.2_5'Flank NM_144982 NP_659419 O60293 ZC3H1_HUMAN proline/serine-rich coiled-coil 2 93 Ser-rich. RNA processing intracellular metal ion binding ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 GCCCCGCTCAGACGCGTGCCG 0.642 OREG0021993 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 166 240 --- --- --- --- PASS GLIPR1L1 256710 broad.mit.edu 37 12 75756926 75756926 + Missense_Mutation SNP G T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr12:75756926G>T uc001sxo.2 + 4 612 c.566G>T c.(565-567)TGC>TTC p.C189F CAPS2_uc001sxm.3_Intron|CAPS2_uc009zsa.2_Intron|GLIPR1L1_uc001sxn.2_Missense_Mutation_p.C189F NM_152779 NP_689992 Q6UWM5 GPRL1_HUMAN GLI pathogenesis-related 1 like 1 189 extracellular region 0 GGAGAATCTTGCTCTCTCTGC 0.308 8 22 --- --- --- --- PASS SYT1 6857 broad.mit.edu 37 12 79689885 79689885 + Missense_Mutation SNP G A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr12:79689885G>A uc001sys.2 + 8 1182 c.511G>A c.(511-513)GCC>ACC p.A171T SYT1_uc001syt.2_Missense_Mutation_p.A171T|SYT1_uc001syu.2_Missense_Mutation_p.A168T|SYT1_uc001syv.2_Missense_Mutation_p.A171T NM_001135805 NP_001129277 P21579 SYT1_HUMAN synaptotagmin I 171 Cytoplasmic (Potential).|Phospholipid binding (Probable).|C2 1. 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 CGAACTGCCCGCCTTGGACAT 0.423 48 153 --- --- --- --- PASS ACSS3 79611 broad.mit.edu 37 12 81647445 81647445 + Missense_Mutation SNP A T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr12:81647445A>T uc001szl.1 + 15 2082 c.1991A>T c.(1990-1992)TAC>TTC p.Y664F ACSS3_uc001szm.1_Missense_Mutation_p.Y663F|ACSS3_uc001szn.1_Missense_Mutation_p.Y346F NM_024560 NP_078836 Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 664 mitochondrion acetate-CoA ligase activity|ATP binding ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 GGCAAGCCATACAAGGTAAAT 0.383 34 105 --- --- --- --- PASS SLC6A15 55117 broad.mit.edu 37 12 85270346 85270346 + Missense_Mutation SNP A G G TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr12:85270346A>G uc001szv.2 - 6 1290 c.797T>C c.(796-798)ATT>ACT p.I266T SLC6A15_uc010sul.1_Missense_Mutation_p.I159T NM_182767 NP_877499 Q9H2J7 S6A15_HUMAN solute carrier family 6, member 15 isoform 1 266 Helical; Name=5; (Potential). cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity pancreas(2)|ovary(1) 3 GAGGAAGCAAATAAGTACCAC 0.303 29 105 --- --- --- --- PASS DRAM1 55332 broad.mit.edu 37 12 102315008 102315008 + Missense_Mutation SNP G T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr12:102315008G>T uc001tix.2 + 7 1150 c.687G>T c.(685-687)AGG>AGT p.R229S DRAM1_uc010svv.1_Missense_Mutation_p.R119S NM_018370 NP_060840 Q8N682 DRAM1_HUMAN DNA-damage regulated autophagy modulator 1 229 apoptosis|autophagy integral to membrane|lysosomal membrane ovary(1) 1 TCACCCTAAGGATATCCACAG 0.383 33 76 --- --- --- --- PASS DNAH10 196385 broad.mit.edu 37 12 124350516 124350516 + Missense_Mutation SNP G T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr12:124350516G>T uc001uft.3 + 40 6734 c.6709G>T c.(6709-6711)GCC>TCC p.A2237S NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2237 AAA 2 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TTTACAGTATGCCTCCCCTGC 0.358 48 114 --- --- --- --- PASS DNAH10 196385 broad.mit.edu 37 12 124354931 124354931 + Missense_Mutation SNP A T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr12:124354931A>T uc001uft.3 + 43 7209 c.7184A>T c.(7183-7185)TAT>TTT p.Y2395F NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2395 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CCAACCTTGTATGACTTTCAT 0.393 17 35 --- --- --- --- PASS TMEM132B 114795 broad.mit.edu 37 12 126004172 126004172 + Splice_Site SNP G C C TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr12:126004172G>C uc001uhe.1 + 4 1286 c.1278_splice c.e4+1 p.M426_splice NM_052907 NP_443139 Q14DG7 T132B_HUMAN transmembrane protein 132B 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) TCTTGCCATGGTGAGGAATCT 0.478 54 128 --- --- --- --- PASS SLC15A4 121260 broad.mit.edu 37 12 129299353 129299353 + Missense_Mutation SNP G A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr12:129299353G>A uc001uhu.2 - 2 862 c.809C>T c.(808-810)TCC>TTC p.S270F SLC15A4_uc001uhv.2_RNA|MGC16384_uc001uhw.2_5'Flank NM_145648 NP_663623 Q8N697 S15A4_HUMAN solute carrier family 15, member 4 270 oligopeptide transport|protein transport integral to membrane|lysosomal membrane peptide:hydrogen symporter activity 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05) TCGCTTCTGGGAACAGCAGGA 0.468 51 93 --- --- --- --- PASS PCDH20 64881 broad.mit.edu 37 13 61987452 61987452 + Silent SNP C T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr13:61987452C>T uc001vid.3 - 2 1144 c.780G>A c.(778-780)GTG>GTA p.V260V PCDH20_uc010thj.1_Silent_p.V260V NM_022843 NP_073754 Q8N6Y1 PCD20_HUMAN protocadherin 20 233 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|breast(1)|central_nervous_system(1) 6 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) CATTCTCCTCCACGTCCAGGG 0.527 40 115 --- --- --- --- PASS MYCBP2 23077 broad.mit.edu 37 13 77748533 77748533 + Missense_Mutation SNP C G G TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr13:77748533C>G uc001vkf.2 - 38 5541 c.5450G>C c.(5449-5451)GGT>GCT p.G1817A MYCBP2_uc010aev.2_Missense_Mutation_p.G1221A NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 1817 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) GAATGTCACACCATCAGGGCA 0.463 56 133 --- --- --- --- PASS OR4K17 390436 broad.mit.edu 37 14 20585700 20585700 + Missense_Mutation SNP G T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr14:20585700G>T uc001vwo.1 + 1 135 c.135G>T c.(133-135)TTG>TTT p.L45F NM_001004715 NP_001004715 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, 17 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3) 3 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) AATTCATTTTGCTGGGACTGA 0.423 108 413 --- --- --- --- PASS OR11H6 122748 broad.mit.edu 37 14 20692503 20692503 + Missense_Mutation SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr14:20692503C>A uc010tlc.1 + 1 635 c.635C>A c.(634-636)TCC>TAC p.S212Y NM_001004480 NP_001004480 Q8NGC7 O11H6_HUMAN olfactory receptor, family 11, subfamily H, 212 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(95;0.00108) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0143) TCTGCTCCTTCCACTGAGCTT 0.498 32 73 --- --- --- --- PASS METT11D1 64745 broad.mit.edu 37 14 21458712 21458712 + Nonsense_Mutation SNP C T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr14:21458712C>T uc001vyn.2 + 3 516 c.319C>T c.(319-321)CAA>TAA p.Q107* METT11D1_uc010tlk.1_Nonsense_Mutation_p.Q107*|METT11D1_uc001vym.2_Nonsense_Mutation_p.Q107*|METT11D1_uc001vyo.2_Nonsense_Mutation_p.Q107*|METT11D1_uc001vyp.2_5'UTR|METT11D1_uc001vyq.2_5'UTR NM_022734 NP_073571 Q9H7H0 MET17_HUMAN methyltransferase 11 domain containing 1 isoform 107 translation mitochondrion|ribosome copper ion binding|methyltransferase activity 0 all_cancers(95;0.00267) OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08) GBM - Glioblastoma multiforme(265;0.0191) AGAGGAGTTGCAAAGACGGGC 0.463 OREG0022561 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 128 --- --- --- --- PASS HECTD1 25831 broad.mit.edu 37 14 31642569 31642569 + Missense_Mutation SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr14:31642569C>A uc001wrc.1 - 6 1438 c.949G>T c.(949-951)GTG>TTG p.V317L NM_015382 NP_056197 Q9ULT8 HECD1_HUMAN HECT domain containing 1 317 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity ovary(3)|large_intestine(1)|lung(1) 5 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) GTATCAAGCACACATCTTTCA 0.413 44 74 --- --- --- --- PASS LRFN5 145581 broad.mit.edu 37 14 42361074 42361074 + Missense_Mutation SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr14:42361074C>A uc001wvm.2 + 4 3205 c.2007C>A c.(2005-2007)AAC>AAA p.N669K LRFN5_uc010ana.2_Intron NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 669 Cytoplasmic (Potential). integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) AAAACACTAACAGGAACAACT 0.458 HNSCC(30;0.082) 23 22 --- --- --- --- PASS MDGA2 161357 broad.mit.edu 37 14 47530548 47530548 + Missense_Mutation SNP T C C TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr14:47530548T>C uc001wwj.3 - 7 1418 c.1222A>G c.(1222-1224)AAA>GAA p.K408E MDGA2_uc001wwi.3_Missense_Mutation_p.K179E|MDGA2_uc010ani.2_5'UTR NM_001113498 NP_001106970 Q7Z553 MDGA2_HUMAN MAM domain containing 1 isoform 1 408 Ig-like 4. spinal cord motor neuron differentiation anchored to membrane|plasma membrane ovary(4)|large_intestine(1)|pancreas(1) 6 TCCGTGAATTTTAAATCAATG 0.408 91 100 --- --- --- --- PASS SYT16 83851 broad.mit.edu 37 14 62462802 62462802 + Missense_Mutation SNP C T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr14:62462802C>T uc001xfu.1 + 1 262 c.65C>T c.(64-66)TCT>TTT p.S22F SYT16_uc010tsd.1_Missense_Mutation_p.S22F NM_031914 NP_114120 Q17RD7 SYT16_HUMAN synaptotagmin XIV-like 22 central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) TCCTGGATATCTCGGGTTTAT 0.453 31 68 --- --- --- --- PASS KCNH5 27133 broad.mit.edu 37 14 63447643 63447643 + Silent SNP G A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr14:63447643G>A uc001xfx.2 - 6 940 c.889C>T c.(889-891)CTG>TTG p.L297L KCNH5_uc001xfy.2_Silent_p.L297L|KCNH5_uc001xfz.1_Silent_p.L239L|KCNH5_uc001xga.2_Silent_p.L239L NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H, 297 Helical; Name=Segment S3; (Potential). regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity ovary(4)|skin(4)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) CAAGACAGCAGATCGATCACA 0.393 43 96 --- --- --- --- PASS C14orf115 55237 broad.mit.edu 37 14 74824650 74824650 + Silent SNP G A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr14:74824650G>A uc001xpw.3 + 2 1355 c.1164G>A c.(1162-1164)GAG>GAA p.E388E NM_018228 NP_060698 Q9H8Y1 VRTN_HUMAN hypothetical protein LOC55237 388 transposition, DNA-mediated DNA binding|transposase activity 0 BRCA - Breast invasive adenocarcinoma(234;0.00147) AGGAGCTGGAGTGCTCCGCAC 0.627 34 66 --- --- --- --- PASS TMEM90A 646658 broad.mit.edu 37 14 74874674 74874674 + Nonsense_Mutation SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr14:74874674C>A uc001xpx.2 - 3 684 c.436G>T c.(436-438)GAG>TAG p.E146* NM_001105579 NP_001099049 A6NDD5 SYN1L_HUMAN transmembrane protein 90A 146 response to biotic stimulus Golgi apparatus|integral to membrane 0 BRCA - Breast invasive adenocarcinoma(234;0.00159) CTTTCACTCTCCGTTGAAGTG 0.468 18 51 --- --- --- --- PASS SEL1L 6400 broad.mit.edu 37 14 81964351 81964351 + Missense_Mutation SNP T C C TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr14:81964351T>C uc010tvv.1 - 10 1130 c.1013A>G c.(1012-1014)CAG>CGG p.Q338R NM_005065 NP_005056 Q9UBV2 SE1L1_HUMAN sel-1 suppressor of lin-12-like precursor 338 Lumenal (Potential).|Interaction with ERLEC1, OS9 and SYVN1. Notch signaling pathway endoplasmic reticulum membrane|integral to membrane protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.0299) CCGTATTCTCTGTACTACTGA 0.403 28 70 --- --- --- --- PASS AHNAK2 113146 broad.mit.edu 37 14 105409712 105409712 + Nonsense_Mutation SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr14:105409712C>A uc010axc.1 - 7 12196 c.12076G>T c.(12076-12078)GAG>TAG p.E4026* AHNAK2_uc001ypx.2_Nonsense_Mutation_p.E3926* NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4026 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GCCTGGACCTCCAGGTCAGCG 0.657 75 353 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 34032192 34032192 + Missense_Mutation SNP A G G TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr15:34032192A>G uc001zhi.2 + 51 7886 c.7816A>G c.(7816-7818)ATG>GTG p.M2606V RYR3_uc010bar.2_Missense_Mutation_p.M2606V NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 2606 3.|Cytoplasmic (By similarity).|4 X approximate repeats. 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) TATTAACACCATGAAGTGAGT 0.433 19 63 --- --- --- --- PASS C15orf52 388115 broad.mit.edu 37 15 40633069 40633069 + Silent SNP G A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr15:40633069G>A uc001zlh.3 - 1 100 c.84C>T c.(82-84)CTC>CTT p.L28L C15orf52_uc001zli.1_5'Flank NM_207380 NP_997263 Q6ZUT6 CO052_HUMAN hypothetical protein LOC388115 28 large_intestine(1) 1 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841) TGGGGAGCCAGAGTGGGAGGA 0.632 6 16 --- --- --- --- PASS TGM5 9333 broad.mit.edu 37 15 43533124 43533124 + Silent SNP A G G TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr15:43533124A>G uc001zrd.1 - 7 935 c.927T>C c.(925-927)GAT>GAC p.D309D TGM5_uc001zrc.1_5'Flank|TGM5_uc001zre.1_Silent_p.D227D NM_201631 NP_963925 O43548 TGM5_HUMAN transglutaminase 5 isoform 1 309 epidermis development|peptide cross-linking cytoplasm acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(1) 1 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;4e-07) L-Glutamine(DB00130) TCAGGTTTCCATCTGTATCGT 0.448 67 249 --- --- --- --- PASS FBN1 2200 broad.mit.edu 37 15 48796075 48796075 + Silent SNP C T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr15:48796075C>T uc001zwx.1 - 17 2350 c.2022G>A c.(2020-2022)TTG>TTA p.L674L NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 674 TB 3. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) CAGCACCAAACAAAGGTTTGA 0.483 37 212 --- --- --- --- PASS NARG2 79664 broad.mit.edu 37 15 60745837 60745837 + Missense_Mutation SNP T C C TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr15:60745837T>C uc002agp.2 - 9 1325 c.1090A>G c.(1090-1092)ATG>GTG p.M364V NARG2_uc002ago.2_Missense_Mutation_p.M227V|NARG2_uc002agq.3_Missense_Mutation_p.M32V|NARG2_uc010bgk.2_Missense_Mutation_p.M364V|NARG2_uc002agr.1_Missense_Mutation_p.M364V NM_024611 NP_078887 Q659A1 NARG2_HUMAN NMDA receptor regulated 2 isoform a 364 nucleus ovary(1)|lung(1) 2 GGTTTGTCCATAAAGACTGCA 0.328 35 156 --- --- --- --- PASS CILP 8483 broad.mit.edu 37 15 65499191 65499191 + Missense_Mutation SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr15:65499191C>A uc002aon.2 - 4 534 c.353G>T c.(352-354)TGG>TTG p.W118L NM_003613 NP_003604 O75339 CILP1_HUMAN cartilage intermediate layer protein 118 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix ovary(4)|pancreas(2)|skin(1) 7 GTTGAGGCACCAGAAACCCTC 0.647 43 177 --- --- --- --- PASS NEO1 4756 broad.mit.edu 37 15 73545749 73545749 + Missense_Mutation SNP G T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr15:73545749G>T uc002avm.3 + 12 2045 c.1903G>T c.(1903-1905)GCT>TCT p.A635S NEO1_uc010ukx.1_Missense_Mutation_p.A635S|NEO1_uc010uky.1_Missense_Mutation_p.A635S|NEO1_uc010ukz.1_Missense_Mutation_p.A59S|NEO1_uc002avn.3_Missense_Mutation_p.A300S NM_002499 NP_002490 Q92859 NEO1_HUMAN neogenin homolog 1 precursor 635 Extracellular (Potential).|Fibronectin type-III 3. axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus pancreas(1) 1 AGTTCCCAGTGCTGCTCCTCA 0.378 79 55 --- --- --- --- PASS ACAN 176 broad.mit.edu 37 15 89398283 89398283 + Missense_Mutation SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr15:89398283C>A uc010upo.1 + 12 2841 c.2467C>A c.(2467-2469)CCA>ACA p.P823T ACAN_uc010upp.1_Missense_Mutation_p.P823T|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 823 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CTCAGAGGAGCCATTCCCCTC 0.622 8 34 --- --- --- --- PASS ANPEP 290 broad.mit.edu 37 15 90333708 90333708 + Missense_Mutation SNP C T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr15:90333708C>T uc002bop.3 - 20 3026 c.2734G>A c.(2734-2736)GAG>AAG p.E912K NM_001150 NP_001141 P15144 AMPN_HUMAN membrane alanine aminopeptidase precursor 912 Extracellular.|Metalloprotease. angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding ovary(3)|skin(1) 4 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) AGCTCATACTCGGTGGAGAAT 0.537 55 91 --- --- --- --- PASS MSLNL 401827 broad.mit.edu 37 16 830137 830137 + Silent SNP G C C TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr16:830137G>C uc002cjz.1 - 3 864 c.864C>G c.(862-864)ACC>ACG p.T288T NM_001025190 NP_001020361 Q96KJ4 MSLNL_HUMAN mesothelin-like 21 cell adhesion integral to membrane breast(3)|ovary(1) 4 ACAGCAGGAGGGTGAGGCCTG 0.692 11 39 --- --- --- --- PASS UNKL 64718 broad.mit.edu 37 16 1453235 1453235 + Missense_Mutation SNP T C C TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr16:1453235T>C uc010bro.1 - 3 406 c.398A>G c.(397-399)AAG>AGG p.K133R UNKL_uc002clq.2_Missense_Mutation_p.K133R NM_001037125 NP_001032202 Q9H9P5 UNKL_HUMAN unkempt homolog (Drosophila)-like isoform 2 133 C3H1-type 2. cytoplasm|nucleus ligase activity|nucleic acid binding|zinc ion binding 0 Hepatocellular(780;0.0893) CAGCCCATTCTTCACGCAGTG 0.637 22 46 --- --- --- --- PASS CARHSP1 23589 broad.mit.edu 37 16 8953178 8953178 + Missense_Mutation SNP G C C TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr16:8953178G>C uc002czh.1 - 2 358 c.8C>G c.(7-9)TCT>TGT p.S3C PMM2_uc002czg.1_Intron|CARHSP1_uc002czi.1_Missense_Mutation_p.S3C NM_001042476 NP_001035941 Q9Y2V2 CHSP1_HUMAN calcium-regulated heat-stable protein 1 3 intracellular signal transduction|regulation of mRNA stability|regulation of transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|P granule DNA binding|mRNA 3'-UTR binding|phosphatase binding 0 GGGAGGCTCAGATGACATGGC 0.642 9 28 --- --- --- --- PASS USP7 7874 broad.mit.edu 37 16 8996248 8996248 + Missense_Mutation SNP C G G TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr16:8996248C>G uc002czl.2 - 17 2130 c.1931G>C c.(1930-1932)GGC>GCC p.G644A USP7_uc010uyk.1_Missense_Mutation_p.G545A|USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Missense_Mutation_p.G545A|USP7_uc002czk.2_Missense_Mutation_p.G628A|USP7_uc010uyl.1_RNA NM_003470 NP_003461 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 644 Interaction with ICP0/VMW110. interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(3) 3 TGTTTTATTGCCGTCGGCTTC 0.423 35 38 --- --- --- --- PASS ABCC1 4363 broad.mit.edu 37 16 16108449 16108449 + Silent SNP C T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr16:16108449C>T uc010bvi.2 + 4 628 c.453C>T c.(451-453)GCC>GCT p.A151A ABCC1_uc010bvj.2_Silent_p.A151A|ABCC1_uc010bvk.2_Silent_p.A151A|ABCC1_uc010bvl.2_Silent_p.A151A|ABCC1_uc010bvm.2_Silent_p.A151A|ABCC1_uc002del.3_Silent_p.A35A|ABCC1_uc010bvn.2_Silent_p.A14A NM_004996 NP_004987 P33527 MRP1_HUMAN ATP-binding cassette, sub-family C, member 1 151 Helical; Name=4. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4) 4 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GTGCCCTAGCCATCCTGAGAT 0.507 63 181 --- --- --- --- PASS DNAH3 55567 broad.mit.edu 37 16 20990716 20990716 + Missense_Mutation SNP T A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr16:20990716T>A uc010vbe.1 - 50 8012 c.8012A>T c.(8011-8013)GAG>GTG p.E2671V DNAH3_uc010vbd.1_Missense_Mutation_p.E106V NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2671 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) CATAGCCACCTCTTGCCTCTT 0.468 48 148 --- --- --- --- PASS SLC5A11 115584 broad.mit.edu 37 16 24902294 24902294 + Missense_Mutation SNP G T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr16:24902294G>T uc002dmu.2 + 9 1001 c.769G>T c.(769-771)GCC>TCC p.A257S SLC5A11_uc002dms.2_Missense_Mutation_p.A193S|SLC5A11_uc010vcd.1_Missense_Mutation_p.A222S|SLC5A11_uc002dmt.2_Intron|SLC5A11_uc010vce.1_Missense_Mutation_p.A187S|SLC5A11_uc010bxt.2_Missense_Mutation_p.A193S NM_052944 NP_443176 Q8WWX8 SC5AB_HUMAN solute carrier family 5 (sodium/glucose 257 Extracellular (Potential). apoptosis|carbohydrate transport|sodium ion transport integral to membrane|plasma membrane polyol transmembrane transporter activity|symporter activity ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0365) CCGGGAAGATGCCTTCCATAT 0.582 98 329 --- --- --- --- PASS KIAA0556 23247 broad.mit.edu 37 16 27751548 27751548 + Missense_Mutation SNP C T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr16:27751548C>T uc002dow.2 + 15 1954 c.1930C>T c.(1930-1932)CAT>TAT p.H644Y NM_015202 NP_056017 O60303 K0556_HUMAN hypothetical protein LOC23247 644 ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1) 8 CAAAGGCACCCATGAGATGGC 0.552 45 115 --- --- --- --- PASS SALL1 6299 broad.mit.edu 37 16 51175787 51175787 + Missense_Mutation SNP G C C TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr16:51175787G>C uc010vgs.1 - 2 377 c.346C>G c.(346-348)CAC>GAC p.H116D SALL1_uc010vgr.1_Missense_Mutation_p.H19D|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 116 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) AGTCCGTTGTGTTCTGAAAGG 0.552 57 139 --- --- --- --- PASS BBS2 583 broad.mit.edu 37 16 56535283 56535283 + Missense_Mutation SNP G A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr16:56535283G>A uc002ejd.2 - 10 1441 c.1207C>T c.(1207-1209)CGC>TGC p.R403C BBS2_uc010ccg.2_3'UTR NM_031885 NP_114091 Q9BXC9 BBS2_HUMAN Bardet-Biedl syndrome 2 protein 403 adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development BBSome|cilium membrane|microtubule basal body|motile cilium protein binding ovary(1) 1 GTGGAAATGCGTAATTCTGTA 0.443 Bardet-Biedl_syndrome 85 298 --- --- --- --- PASS HERPUD1 9709 broad.mit.edu 37 16 56977077 56977077 + Missense_Mutation SNP C T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr16:56977077C>T uc002eke.1 + 8 1460 c.1051C>T c.(1051-1053)CCT>TCT p.P351S HERPUD1_uc002ekf.1_Missense_Mutation_p.P350S|HERPUD1_uc002ekg.1_Missense_Mutation_p.P326S|HERPUD1_uc010cco.1_3'UTR|HERPUD1_uc010ccp.1_Missense_Mutation_p.P253S|HERPUD1_uc002ekh.1_Missense_Mutation_p.P169S NM_014685 NP_055500 Q15011 HERP1_HUMAN homocysteine-inducible, endoplasmic reticulum 351 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane protein binding 0 CAACCACCTCCCTCCAGACAG 0.463 T ERG prostate 168 398 --- --- --- --- PASS CDH8 1006 broad.mit.edu 37 16 61687685 61687685 + Missense_Mutation SNP A G G TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr16:61687685A>G uc002eog.1 - 12 2479 c.2227T>C c.(2227-2229)TCC>CCC p.S743P NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein 743 Cytoplasmic (Potential). 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) ATCTGAATGGAGTCATATGGC 0.498 25 68 --- --- --- --- PASS LRRC50 123872 broad.mit.edu 37 16 84199402 84199402 + Missense_Mutation SNP G T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr16:84199402G>T uc002fhl.3 + 7 1058 c.877G>T c.(877-879)GCC>TCC p.A293S LRRC50_uc010vnw.1_Missense_Mutation_p.A41S NM_178452 NP_848547 Q8NEP3 DAAF1_HUMAN leucine rich repeat containing 50 293 LRRCT. axonemal dynein complex assembly|cilium morphogenesis cilium axoneme|cytoplasm|spindle pole dynein binding 0 TTGTGCGGAGGCCTGGGCTAG 0.478 Kartagener_syndrome 43 172 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7578467 7578467 + Missense_Mutation SNP T G G TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr17:7578467T>G uc002gim.2 - 5 657 c.463A>C c.(463-465)ACC>CCC p.T155P TP53_uc002gig.1_Missense_Mutation_p.T155P|TP53_uc002gih.2_Missense_Mutation_p.T155P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.T23P|TP53_uc010cng.1_Missense_Mutation_p.T23P|TP53_uc002gii.1_Missense_Mutation_p.T23P|TP53_uc010cnh.1_Missense_Mutation_p.T155P|TP53_uc010cni.1_Missense_Mutation_p.T155P|TP53_uc002gij.2_Missense_Mutation_p.T155P|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.T62P|TP53_uc002gio.2_Missense_Mutation_p.T23P|TP53_uc010vug.1_Missense_Mutation_p.T116P NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 155 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; 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.T155N(19)|p.T155P(14)|p.T155I(10)|p.0?(7)|p.T155A(7)|p.T155T(5)|p.P152fs*14(4)|p.G154fs*14(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.T155S(2)|p.P151_V173del23(1)|p.G154_R156delGTR(1)|p.T155fs*26(1)|p.T155fs*25(1)|p.D148_T155delDSTPPPGT(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.T155fs*15(1)|p.T155_R156delTR(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) CGGACGCGGGTGCCGGGCGGG 0.612 111 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) 77 37 --- --- --- --- PASS PFAS 5198 broad.mit.edu 37 17 8167621 8167621 + Missense_Mutation SNP A T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr17:8167621A>T uc002gkr.2 + 16 2024 c.1883A>T c.(1882-1884)GAG>GTG p.E628V PFAS_uc010vuv.1_Missense_Mutation_p.E204V|PFAS_uc010cnw.1_Missense_Mutation_p.E128V|PFAS_uc002gks.2_5'Flank NM_012393 NP_036525 O15067 PUR4_HUMAN phosphoribosylformylglycinamidine synthase 628 'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process cytosol ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding ovary(2)|central_nervous_system(2)|pancreas(1) 5 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GTGGACCTGGAGCTCGAATGG 0.597 21 85 --- --- --- --- PASS SREBF1 6720 broad.mit.edu 37 17 17718184 17718184 + Missense_Mutation SNP C T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr17:17718184C>T uc002gru.1 - 14 2761 c.2567G>A c.(2566-2568)AGC>AAC p.S856N SREBF1_uc002gro.3_5'Flank|SREBF1_uc002grp.1_Missense_Mutation_p.S475N|SREBF1_uc002grq.1_Missense_Mutation_p.S375N|SREBF1_uc002grr.1_Missense_Mutation_p.S602N|SREBF1_uc002grs.1_Missense_Mutation_p.S832N|SREBF1_uc002grt.1_Missense_Mutation_p.S886N|MIR33B_hsa-mir-33b|MI0003646_5'Flank NM_004176 NP_004167 P36956 SRBP1_HUMAN sterol regulatory element binding transcription 856 Cytoplasmic (Potential). cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus protein binding|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding skin(1) 1 GATGGAGAAGCTGTAGGCAGG 0.632 12 3 --- --- --- --- PASS SLC4A1 6521 broad.mit.edu 37 17 42328845 42328845 + Missense_Mutation SNP C G G TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr17:42328845C>G uc002igf.3 - 18 2572 c.2423G>C c.(2422-2424)CGC>CCC p.R808P NM_000342 NP_000333 P02730 B3AT_HUMAN solute carrier family 4, anion exchanger, member 808 Membrane (anion exchange). R -> H (in SPH4; Nara).|R -> C (in SPH4; Jablonec). bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) AAGCAAGATGCGGTCAAAGAG 0.587 116 53 --- --- --- --- PASS POLG2 11232 broad.mit.edu 37 17 62493071 62493071 + Missense_Mutation SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr17:62493071C>A uc002jei.2 - 1 99 c.16G>T c.(16-18)GCC>TCC p.A6S POLG2_uc010deg.1_Missense_Mutation_p.A6S NM_007215 NP_009146 Q9UHN1 DPOG2_HUMAN DNA polymerase subunit gamma-2, mitochondrial 6 DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation mitochondrial chromosome ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding central_nervous_system(1) 1 Breast(5;2.15e-14) BRCA - Breast invasive adenocarcinoma(8;4.97e-11) GCCCTGACGGCTACACGAGAG 0.577 27 139 --- --- --- --- PASS ABCA10 10349 broad.mit.edu 37 17 67190576 67190576 + Missense_Mutation SNP C G G TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr17:67190576C>G uc010dfa.1 - 13 2174 c.1295G>C c.(1294-1296)GGT>GCT p.G432A ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_Missense_Mutation_p.G33A NM_080282 NP_525021 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A, member 10 432 ATP 1 (Potential).|ABC transporter 1. transport integral to membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;6.95e-12) TGTTGATTTACCAGCTCCATT 0.323 48 284 --- --- --- --- PASS GPR142 350383 broad.mit.edu 37 17 72368390 72368390 + Missense_Mutation SNP G T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr17:72368390G>T uc010wqy.1 + 4 1040 c.1040G>T c.(1039-1041)GGG>GTG p.G347V GPR142_uc010wqx.1_Missense_Mutation_p.G259V NM_181790 NP_861455 Q7Z601 GP142_HUMAN G protein-coupled receptor 142 347 Cytoplasmic (Potential). cell junction|cytoplasm|integral to membrane G-protein coupled receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 GGCCGGAGTGGGCTGCAGCCC 0.627 103 34 --- --- --- --- PASS COLEC12 81035 broad.mit.edu 37 18 334900 334900 + Missense_Mutation SNP A G G TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr18:334900A>G uc002kkm.2 - 6 1873 c.1658T>C c.(1657-1659)GTT>GCT p.V553A NM_130386 NP_569057 Q5KU26 COL12_HUMAN collectin sub-family member 12 553 Collagen-like 3.|Extracellular (Potential). carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity ovary(1)|pancreas(1) 2 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) AGGCTCCCCAACGGTGCCCTG 0.736 5 18 --- --- --- --- PASS TAF4B 6875 broad.mit.edu 37 18 23895363 23895363 + Splice_Site SNP G C C TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr18:23895363G>C uc002kvu.3 + 10 2491 c.2002_splice c.e10+1 p.G668_splice TAF4B_uc002kvs.3_Splice_Site|TAF4B_uc002kvt.3_Splice_Site_p.G673_splice NM_005640 NP_005631 Q92750 TAF4B_HUMAN TAF4b RNA polymerase II, TATA box binding transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|nucleolus|transcription factor TFIID complex DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity lung(1)|central_nervous_system(1)|skin(1) 3 all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124) Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267) TTAGACATTGGTAAGTGTAGA 0.368 68 92 --- --- --- --- PASS CCDC68 80323 broad.mit.edu 37 18 52571635 52571635 + Missense_Mutation SNP G T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr18:52571635G>T uc002lfs.2 - 12 1134 c.962C>A c.(961-963)ACC>AAC p.T321N CCDC68_uc002lft.2_Missense_Mutation_p.T321N NM_001143829 NP_001137301 Q9H2F9 CCD68_HUMAN coiled-coil domain containing 68 321 skin(1) 1 Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21) AACACCTTCGGTCTTCAATTC 0.368 37 219 --- --- --- --- PASS CDH20 28316 broad.mit.edu 37 18 59174683 59174683 + Missense_Mutation SNP G A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr18:59174683G>A uc010dps.1 + 5 919 c.907G>A c.(907-909)GAA>AAA p.E303K CDH20_uc002lif.2_Missense_Mutation_p.E297K NM_031891 NP_114097 Q9HBT6 CAD20_HUMAN cadherin 20, type 2 preproprotein 303 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|ovary(1)|pancreas(1) 5 Colorectal(73;0.186) GGACTTGGATGAAGGCATCAA 0.443 254 174 --- --- --- --- PASS CD226 10666 broad.mit.edu 37 18 67614263 67614263 + Missense_Mutation SNP G T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr18:67614263G>T uc010dqo.2 - 2 536 c.89C>A c.(88-90)GCC>GAC p.A30D CD226_uc002lkm.3_Missense_Mutation_p.A30D NM_006566 NP_006557 Q15762 CD226_HUMAN CD226 molecule precursor 30 Ig-like C2-type 1.|Extracellular (Potential). cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target cell surface|integral to plasma membrane|membrane raft cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity 0 Esophageal squamous(42;0.129) CATGTTCTCGGCAAAGGGAAC 0.423 96 272 --- --- --- --- PASS TSHZ1 10194 broad.mit.edu 37 18 72999994 72999994 + Nonsense_Mutation SNP G T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr18:72999994G>T uc002lly.2 + 2 3060 c.2497G>T c.(2497-2499)GAG>TAG p.E833* NM_005786 NP_005777 Q6ZSZ6 TSH1_HUMAN teashirt family zinc finger 1 878 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) GGCGTTGGACGAGCTGTCACC 0.617 26 101 --- --- --- --- PASS ZNF516 9658 broad.mit.edu 37 18 74091860 74091860 + Missense_Mutation SNP G A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr18:74091860G>A uc010dqx.1 - 3 2445 c.2210C>T c.(2209-2211)GCG>GTG p.A737V ZNF516_uc002lme.2_RNA|ZNF516_uc002lmd.2_RNA NM_014643 NP_055458 Q92618 ZN516_HUMAN zinc finger protein 516 737 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) CGTCGACCTCGCACTTAAATC 0.597 19 60 --- --- --- --- PASS REXO1 57455 broad.mit.edu 37 19 1820047 1820047 + Missense_Mutation SNP C T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr19:1820047C>T uc002lua.3 - 7 2631 c.2536G>A c.(2536-2538)GAG>AAG p.E846K REXO1_uc010dsq.2_Missense_Mutation_p.E155K|REXO1_uc010xgs.1_5'UTR|REXO1_uc010dsp.1_RNA|uc002lub.1_5'Flank NM_020695 NP_065746 Q8N1G1 REXO1_HUMAN transcription elongation factor B polypeptide 3 846 nucleus exonuclease activity|nucleic acid binding 0 Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACCTTCTCCTCGTTCAGTGCC 0.667 14 75 --- --- --- --- PASS SF3A2 8175 broad.mit.edu 37 19 2243439 2243439 + Missense_Mutation SNP G A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr19:2243439G>A uc002lvg.2 + 2 144 c.22G>A c.(22-24)GGG>AGG p.G8R NM_007165 NP_009096 Q15428 SF3A2_HUMAN splicing factor 3a, subunit 2 8 nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex nucleic acid binding|zinc ion binding 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCATCGCCCCGGGGGCAAGAC 0.642 35 111 --- --- --- --- PASS MATK 4145 broad.mit.edu 37 19 3783963 3783963 + Missense_Mutation SNP A G G TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr19:3783963A>G uc002lyt.2 - 6 831 c.431T>C c.(430-432)TTC>TCC p.F144S MATK_uc002lyv.2_Missense_Mutation_p.F145S|MATK_uc002lyu.2_Missense_Mutation_p.F103S|MATK_uc010dtq.2_Missense_Mutation_p.F144S NM_139355 NP_647612 P42679 MATK_HUMAN megakaryocyte-associated tyrosine kinase isoform 144 SH2. cell proliferation|mesoderm development|positive regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity stomach(2)|ovary(1)|lung(1)|large_intestine(1) 5 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) CCGCACCAGGAACAGCCCATC 0.697 14 35 --- --- --- --- PASS HNRNPM 4670 broad.mit.edu 37 19 8531119 8531119 + Silent SNP C T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr19:8531119C>T uc010dwe.2 + 7 711 c.631C>T c.(631-633)CTG>TTG p.L211L HNRNPM_uc010dwc.1_Silent_p.L211L|HNRNPM_uc010xke.1_Silent_p.L172L|HNRNPM_uc010dwd.2_Silent_p.L172L|HNRNPM_uc002mka.2_Silent_p.L91L NM_005968 NP_005959 P52272 HNRPM_HUMAN heterogeneous nuclear ribonucleoprotein M 211 RRM 2. alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles nucleotide binding|protein domain specific binding|RNA binding 0 TCTCGATTAGCTGGATTATAA 0.373 92 369 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9065965 9065965 + Missense_Mutation SNP C T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr19:9065965C>T uc002mkp.2 - 3 21685 c.21481G>A c.(21481-21483)GAG>AAG p.E7161K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 7163 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GTCAGTCTCTCATCTGAAGTG 0.502 68 230 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9089140 9089140 + Missense_Mutation SNP G C C TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr19:9089140G>C uc002mkp.2 - 1 2879 c.2675C>G c.(2674-2676)TCT>TGT p.S892C NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 892 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GGTAGGGACAGAGGTGCTGGC 0.507 18 31 --- --- --- --- PASS CCDC151 115948 broad.mit.edu 37 19 11533444 11533444 + Missense_Mutation SNP C G G TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr19:11533444C>G uc002mrs.2 - 9 1345 c.1202G>C c.(1201-1203)AGG>ACG p.R401T CCDC151_uc002mrr.2_Missense_Mutation_p.R336T|CCDC151_uc010dxz.2_Missense_Mutation_p.R341T NM_145045 NP_659482 A5D8V7 CC151_HUMAN coiled-coil domain containing 151 401 Potential. ovary(1) 1 CTGCTTCAGCCTCACCAACGT 0.657 19 74 --- --- --- --- PASS ZNF700 90592 broad.mit.edu 37 19 12060230 12060230 + Missense_Mutation SNP A T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr19:12060230A>T uc002msu.2 + 4 1517 c.1391A>T c.(1390-1392)CAT>CTT p.H464L ZNF700_uc010xme.1_Missense_Mutation_p.H482L|ZNF763_uc010xmf.1_Intron NM_144566 NP_653167 Q9H0M5 ZN700_HUMAN zinc finger protein 700 464 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CTTCGAGTGCATGGTAGGACT 0.453 50 163 --- --- --- --- PASS IL27RA 9466 broad.mit.edu 37 19 14143296 14143296 + Missense_Mutation SNP C T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr19:14143296C>T uc002mxx.2 + 2 622 c.199C>T c.(199-201)CAC>TAC p.H67Y NM_004843 NP_004834 Q6UWB1 I27RA_HUMAN class I cytokine receptor precursor 67 Extracellular (Potential). cell surface receptor linked signaling pathway|immune response integral to plasma membrane transmembrane receptor activity 0 CTCCGAGTTACACCTCCAGAG 0.622 70 242 --- --- --- --- PASS KIAA1683 80726 broad.mit.edu 37 19 18368565 18368565 + Silent SNP G T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr19:18368565G>T uc002nin.2 - 4 3184 c.2968C>A c.(2968-2970)CGG>AGG p.R990R PDE4C_uc002nil.3_5'Flank|KIAA1683_uc010ebn.2_Silent_p.R1177R|KIAA1683_uc010xqe.1_Silent_p.R944R|KIAA1683_uc010xqf.1_RNA NM_025249 NP_079525 Q9H0B3 K1683_HUMAN KIAA1683 isoform b 990 IQ 4. mitochondrion ovary(2) 2 GCTTGGTCCCGGCGGGTGCTG 0.687 44 43 --- --- --- --- PASS ZNF208 7757 broad.mit.edu 37 19 22156606 22156606 + Silent SNP T G G TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr19:22156606T>G uc002nqp.2 - 4 1379 c.1230A>C c.(1228-1230)TCA>TCC p.S410S ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) TAGTAAGGATTGAGAACATAC 0.383 45 156 --- --- --- --- PASS ZNF461 92283 broad.mit.edu 37 19 37129799 37129799 + Missense_Mutation SNP T A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr19:37129799T>A uc002oem.2 - 6 1676 c.1448A>T c.(1447-1449)CAC>CTC p.H483L ZNF461_uc002oen.2_Missense_Mutation_p.H452L|ZNF461_uc010xtj.1_Missense_Mutation_p.H460L NM_153257 NP_694989 Q8TAF7 ZN461_HUMAN gonadotropin inducible transcription repressor 483 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) TTGAATAAGGTGTGAATGAAG 0.393 32 121 --- --- --- --- PASS ZNF527 84503 broad.mit.edu 37 19 37880312 37880312 + Missense_Mutation SNP G T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr19:37880312G>T uc010efk.1 + 5 1472 c.1361G>T c.(1360-1362)CGC>CTC p.R454L ZNF527_uc002ogf.3_Missense_Mutation_p.R422L|ZNF527_uc010xtq.1_RNA NM_032453 NP_115829 Q8NB42 ZN527_HUMAN zinc finger protein 527 454 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTTGGCTATCGCTCACACCTG 0.423 27 120 --- --- --- --- PASS SIRT2 22933 broad.mit.edu 37 19 39384155 39384155 + Missense_Mutation SNP C G G TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr19:39384155C>G uc002ojt.1 - 4 325 c.125G>C c.(124-126)CGG>CCG p.R42P SIRT2_uc010egh.1_Missense_Mutation_p.R5P|SIRT2_uc010egi.1_Missense_Mutation_p.R5P|SIRT2_uc002ojs.1_Missense_Mutation_p.R22P|SIRT2_uc002oju.1_Missense_Mutation_p.R5P|SIRT2_uc010egj.1_Missense_Mutation_p.R5P|SIRT2_uc002ojv.1_Missense_Mutation_p.R42P NM_012237 NP_036369 Q8IXJ6 SIRT2_HUMAN sirtuin 2 isoform 1 42 cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state chromatin silencing complex|cytoplasm|microtubule histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding 0 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191) GAATAAGTTCCGCAGGAAGTC 0.527 12 45 --- --- --- --- PASS ZNF222 7673 broad.mit.edu 37 19 44536824 44536824 + Nonsense_Mutation SNP C T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr19:44536824C>T uc002oyc.2 + 4 1180 c.997C>T c.(997-999)CGA>TGA p.R333* ZNF284_uc010ejd.2_Intron|ZNF222_uc002oye.2_Nonsense_Mutation_p.R373*|ZNF222_uc002oyd.2_Nonsense_Mutation_p.R279* NM_013360 NP_037492 Q9UK12 ZN222_HUMAN zinc finger protein 222 isoform 2 333 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Prostate(69;0.0435) GGTCCATCAACGAGTCCACAC 0.428 100 283 --- --- --- --- PASS ZNF229 7772 broad.mit.edu 37 19 44947019 44947019 + Missense_Mutation SNP T A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr19:44947019T>A uc002oze.1 - 3 447 c.13A>T c.(13-15)ACC>TCC p.T5S ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Missense_Mutation_p.T5S NM_014518 NP_055333 Q9UJW7 ZN229_HUMAN zinc finger protein 229 5 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|pancreas(1) 4 Prostate(69;0.0352) TGCCTTGAGGTCAAAGTCTCC 0.483 31 205 --- --- --- --- PASS ZNF296 162979 broad.mit.edu 37 19 45579091 45579091 + Missense_Mutation SNP C G G TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr19:45579091C>G uc002pao.2 - 2 385 c.328G>C c.(328-330)GAT>CAT p.D110H NM_145288 NP_660331 Q8WUU4 ZN296_HUMAN zinc finger protein 296 110 regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GTCAACAGATCTGGGTGTTTG 0.652 32 119 --- --- --- --- PASS STRN4 29888 broad.mit.edu 37 19 47230799 47230799 + Silent SNP G C C TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr19:47230799G>C uc002pfl.2 - 9 1191 c.1158C>G c.(1156-1158)GTC>GTG p.V386V STRN4_uc002pfm.2_Silent_p.V393V|STRN4_uc010xyf.1_RNA|STRN4_uc010xyg.1_RNA NM_013403 NP_037535 Q9NRL3 STRN4_HUMAN zinedin isoform 1 386 cytoplasm|membrane armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding 0 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035) CCATGATGAAGACGTCTGAGG 0.413 8 38 --- --- --- --- PASS MYH14 79784 broad.mit.edu 37 19 50775187 50775187 + Missense_Mutation SNP A G G TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr19:50775187A>G uc002prr.1 + 24 3177 c.3130A>G c.(3130-3132)AAG>GAG p.K1044E MYH14_uc010enu.1_Missense_Mutation_p.K1085E|MYH14_uc002prq.1_Missense_Mutation_p.K1052E NM_024729 NP_079005 Q7Z406 MYH14_HUMAN myosin, heavy chain 14 isoform 2 1044 Potential. axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1) 1 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) GAGCCTCAATAAGCTACGGCT 0.587 6 30 --- --- --- --- PASS SIGLEC9 27180 broad.mit.edu 37 19 51631751 51631751 + Missense_Mutation SNP G A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr19:51631751G>A uc002pvu.2 + 6 1254 c.1187G>A c.(1186-1188)AGG>AAG p.R396K SIGLEC9_uc010yct.1_Missense_Mutation_p.R396K NM_014441 NP_055256 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 precursor 396 Cytoplasmic (Potential). cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding skin(1) 1 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) AACGCTGTCAGGGGTTCAGCC 0.582 38 92 --- --- --- --- PASS ZNF600 162966 broad.mit.edu 37 19 53269448 53269448 + Missense_Mutation SNP T C C TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr19:53269448T>C uc002qab.3 - 3 1847 c.1561A>G c.(1561-1563)AGT>GGT p.S521G NM_198457 NP_940859 Q6ZNG1 ZN600_HUMAN zinc finger protein 600 521 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404) TTCTCACCACTATGAACTCTG 0.438 122 444 --- --- --- --- PASS ZNF320 162967 broad.mit.edu 37 19 53383958 53383958 + Missense_Mutation SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr19:53383958C>A uc002qag.2 - 4 1612 c.1421G>T c.(1420-1422)TGT>TTT p.C474F ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Missense_Mutation_p.C420F|ZNF320_uc002qai.2_Missense_Mutation_p.C474F NM_207333 NP_997216 A2RRD8 ZN320_HUMAN zinc finger protein 320 474 C2H2-type 12; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0534) GACCTTGCCACACTGATGACA 0.403 69 100 --- --- --- --- PASS LILRB2 10288 broad.mit.edu 37 19 54783874 54783874 + Missense_Mutation SNP T A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr19:54783874T>A uc002qfb.2 - 4 393 c.127A>T c.(127-129)AGT>TGT p.S43C LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Missense_Mutation_p.S43C|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.S43C|LILRB2_uc010yet.1_Intron|LILRB2_uc010yeu.1_RNA NM_005874 NP_005865 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, 43 Extracellular (Potential).|Ig-like C2-type 1. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity skin(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GTGACGGGACTCCCCTGGGTG 0.532 186 217 --- --- --- --- PASS LILRA3 11026 broad.mit.edu 37 19 54802503 54802503 + Missense_Mutation SNP G T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr19:54802503G>T uc002qfd.2 - 5 1003 c.938C>A c.(937-939)CCC>CAC p.P313H LILRA6_uc002qew.1_Intron|LILRA3_uc010erk.2_Missense_Mutation_p.P249H NM_006865 NP_006856 Q8N6C8 LIRA3_HUMAN leukocyte immunoglobulin-like receptor, 313 Ig-like C2-type 3. defense response extracellular region|plasma membrane antigen binding|receptor activity ovary(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GATGTCCAGGGGGTCGCTGGG 0.677 53 73 --- --- --- --- PASS LAIR2 3904 broad.mit.edu 37 19 55019216 55019216 + Nonsense_Mutation SNP G T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr19:55019216G>T uc002qgc.2 + 3 303 c.181G>T c.(181-183)GAG>TAG p.E61* LAIR2_uc002qga.1_RNA|LAIR2_uc002qgb.1_RNA|LAIR2_uc002qgd.2_Nonsense_Mutation_p.E61*|LAIR2_uc010erl.2_Nonsense_Mutation_p.E61* NM_002288 NP_002279 Q6ISS4 LAIR2_HUMAN leukocyte-associated immunoglobulin-like 61 Ig-like C2-type. extracellular region receptor activity ovary(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0967) ATTCCGCCTGGAGAGGGAGGA 0.537 60 198 --- --- --- --- PASS LILRA1 11024 broad.mit.edu 37 19 55106657 55106657 + Missense_Mutation SNP T C C TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr19:55106657T>C uc002qgh.1 + 5 633 c.451T>C c.(451-453)TTT>CTT p.F151L LILRA2_uc010yfg.1_Intron|LILRA1_uc010yfh.1_Missense_Mutation_p.F151L NM_006863 NP_006854 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, 151 Ig-like C2-type 2.|Extracellular (Potential). cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(193;0.0348) ACAGGTGGCATTTGGCAGCTT 0.557 151 173 --- --- --- --- PASS C20orf54 113278 broad.mit.edu 37 20 746113 746113 + Silent SNP G A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr20:746113G>A uc002wed.3 - 2 645 c.306C>T c.(304-306)GGC>GGT p.G102G C20orf54_uc002wee.2_Silent_p.G102G NM_033409 NP_212134 Q9NQ40 RFT2_HUMAN hypothetical protein LOC113278 precursor 102 Helical; (Potential). sensory perception of sound integral to plasma membrane riboflavin transporter activity ovary(2) 2 TGCTGTGGTGGCCGTCCAGCA 0.592 6 31 --- --- --- --- PASS CHGB 1114 broad.mit.edu 37 20 5903529 5903529 + Nonsense_Mutation SNP G T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr20:5903529G>T uc002wmg.2 + 4 1045 c.739G>T c.(739-741)GAG>TAG p.E247* CHGB_uc010zqz.1_5'UTR NM_001819 NP_001810 P05060 SCG1_HUMAN chromogranin B precursor 247 extracellular region hormone activity breast(3)|skin(2)|ovary(1) 6 AGGGAGCCAGGAGAATCACCC 0.567 15 54 --- --- --- --- PASS ISM1 140862 broad.mit.edu 37 20 13280083 13280083 + Missense_Mutation SNP T C C TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr20:13280083T>C uc010gce.1 + 6 1378 c.1372T>C c.(1372-1374)TTC>CTC p.F458L TASP1_uc010zri.1_Intron NM_080826 NP_543016 B1AKI9 ISM1_HUMAN isthmin 1 homolog precursor 458 extracellular region 0 CATCAAGCAGTTCCAAGAGGC 0.582 80 85 --- --- --- --- PASS ESF1 51575 broad.mit.edu 37 20 13747527 13747527 + Missense_Mutation SNP C T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr20:13747527C>T uc002woj.2 - 8 1671 c.1563G>A c.(1561-1563)ATG>ATA p.M521I ESF1_uc002wok.1_Missense_Mutation_p.M521I NM_016649 NP_057733 Q9H501 ESF1_HUMAN ABT1-associated protein 521 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|nucleoplasm ovary(1) 1 TCCTGTTGAGCATTGTAATTC 0.378 46 207 --- --- --- --- PASS NINL 22981 broad.mit.edu 37 20 25439107 25439107 + Missense_Mutation SNP C T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr20:25439107C>T uc002wux.1 - 22 3829 c.3755G>A c.(3754-3756)CGG>CAG p.R1252Q NINL_uc010gdn.1_Missense_Mutation_p.R903Q|NINL_uc002wuw.1_Missense_Mutation_p.R43Q NM_025176 NP_079452 Q9Y2I6 NINL_HUMAN ninein-like 1252 Potential. G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 GGGCACCAGCCGGACCTCCTG 0.677 17 48 --- --- --- --- PASS MYLK2 85366 broad.mit.edu 37 20 30409369 30409369 + Missense_Mutation SNP G C C TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr20:30409369G>C uc002wwq.2 + 4 703 c.601G>C c.(601-603)GCA>CCA p.A201P NM_033118 NP_149109 Q9H1R3 MYLK2_HUMAN skeletal myosin light chain kinase 201 cardiac muscle tissue morphogenesis|regulation of muscle filament sliding ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity lung(2)|skin(2)|ovary(1)|central_nervous_system(1) 6 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) GAACATCCTGGCAGAGAGCCA 0.602 47 153 --- --- --- --- PASS MYLK2 85366 broad.mit.edu 37 20 30409370 30409370 + Missense_Mutation SNP C T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr20:30409370C>T uc002wwq.2 + 4 704 c.602C>T c.(601-603)GCA>GTA p.A201V NM_033118 NP_149109 Q9H1R3 MYLK2_HUMAN skeletal myosin light chain kinase 201 cardiac muscle tissue morphogenesis|regulation of muscle filament sliding ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity lung(2)|skin(2)|ovary(1)|central_nervous_system(1) 6 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) AACATCCTGGCAGAGAGCCAG 0.602 47 156 --- --- --- --- PASS CDK5RAP1 51654 broad.mit.edu 37 20 31984835 31984835 + Missense_Mutation SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr20:31984835C>A uc010gek.2 - 2 160 c.36G>T c.(34-36)AGG>AGT p.R12S CDK5RAP1_uc002wyy.2_Intron|CDK5RAP1_uc002wyz.2_Missense_Mutation_p.R12S|CDK5RAP1_uc002wza.2_Missense_Mutation_p.R12S|CDK5RAP1_uc010gel.2_Intron|CDK5RAP1_uc010gem.2_Missense_Mutation_p.R12S|CDK5RAP1_uc002wzc.1_Missense_Mutation_p.R12S|CDK5RAP1_uc010gen.2_Missense_Mutation_p.R12S NM_016408 NP_057492 Q96SZ6 CK5P1_HUMAN CDK5 regulatory subunit associated protein 1 12 brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification cytoplasm 4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity ovary(2)|skin(2)|lung(1) 5 ACCCCAGAGACCTCTGCACTT 0.478 118 93 --- --- --- --- PASS PXMP4 11264 broad.mit.edu 37 20 32302479 32302479 + Splice_Site SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr20:32302479C>A uc002wzv.2 - 2 299 c.176_splice c.e2+1 p.S59_splice PXMP4_uc002wzw.2_Splice_Site_p.R59_splice|PXMP4_uc010zuh.1_Splice_Site_p.R59_splice NM_007238 NP_009169 Q9Y6I8 PXMP4_HUMAN peroxisomal membrane protein 4 isoform a integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane protein transporter activity 0 GGGATGTGTACCTGCCATTCC 0.522 91 241 --- --- --- --- PASS PXMP4 11264 broad.mit.edu 37 20 32302480 32302480 + Missense_Mutation SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr20:32302480C>A uc002wzv.2 - 2 299 c.176G>T c.(175-177)AGC>ATC p.S59I PXMP4_uc002wzw.2_Missense_Mutation_p.R59I|PXMP4_uc010zuh.1_Missense_Mutation_p.R59M NM_007238 NP_009169 Q9Y6I8 PXMP4_HUMAN peroxisomal membrane protein 4 isoform a 59 integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane protein transporter activity 0 GGATGTGTACCTGCCATTCCG 0.522 92 251 --- --- --- --- PASS PTPRT 11122 broad.mit.edu 37 20 41385101 41385101 + Splice_Site SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr20:41385101C>A uc002xkg.2 - 6 1043 c.859_splice c.e6+1 p.E287_splice PTPRT_uc010ggj.2_Splice_Site_p.E287_splice NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GAGGCACTCACCTTTCACGAT 0.567 11 57 --- --- --- --- PASS PTPRT 11122 broad.mit.edu 37 20 41385102 41385102 + Nonsense_Mutation SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr20:41385102C>A uc002xkg.2 - 6 1043 c.859G>T c.(859-861)GAG>TAG p.E287* PTPRT_uc010ggj.2_Nonsense_Mutation_p.E287* NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 287 Extracellular (Potential). homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) AGGCACTCACCTTTCACGATC 0.567 12 57 --- --- --- --- PASS NFATC2 4773 broad.mit.edu 37 20 50139876 50139876 + Missense_Mutation SNP C A A rs61735418 by1000genomes TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr20:50139876C>A uc002xwd.2 - 2 1124 c.904G>T c.(904-906)GTG>TTG p.V302L NFATC2_uc002xwc.2_Missense_Mutation_p.V302L|NFATC2_uc010zyv.1_Missense_Mutation_p.V83L|NFATC2_uc010zyw.1_Missense_Mutation_p.V83L|NFATC2_uc010zyx.1_Missense_Mutation_p.V282L|NFATC2_uc010zyy.1_Missense_Mutation_p.V83L|NFATC2_uc010zyz.1_Missense_Mutation_p.V83L|NFATC2_uc002xwe.2_Missense_Mutation_p.V282L NM_173091 NP_775114 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, 302 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) TCCATGATCACGGCAGAGCCA 0.701 8 15 --- --- --- --- PASS BCAS1 8537 broad.mit.edu 37 20 52645090 52645090 + Silent SNP G A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr20:52645090G>A uc002xws.2 - 4 902 c.564C>T c.(562-564)CCC>CCT p.P188P BCAS1_uc010zzb.1_Silent_p.P91P|BCAS1_uc010gim.2_Silent_p.P91P|BCAS1_uc002xwt.2_Silent_p.P188P|BCAS1_uc010gil.1_Silent_p.P188P|BCAS1_uc010zzc.1_Silent_p.P91P NM_003657 NP_003648 O75363 BCAS1_HUMAN breast carcinoma amplified sequence 1 188 cytoplasm protein binding ovary(2)|central_nervous_system(1) 3 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) TGGAGTCCTTGGGCTTGGAGG 0.592 198 296 --- --- --- --- PASS OPRL1 4987 broad.mit.edu 37 20 62724080 62724080 + Missense_Mutation SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr20:62724080C>A uc002yic.2 + 3 409 c.7C>A c.(7-9)CCC>ACC p.P3T OPRL1_uc002yid.2_Missense_Mutation_p.P3T|OPRL1_uc002yif.3_Missense_Mutation_p.P3T NM_182647 NP_872588 P41146 OPRX_HUMAN opiate receptor-like 1 3 Extracellular (Potential). elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception integral to plasma membrane protein binding|X-opioid receptor activity central_nervous_system(1)|skin(1) 2 all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08) TGGCATGGAGCCCCTCTTCCC 0.637 97 68 --- --- --- --- PASS ADAMTS5 11096 broad.mit.edu 37 21 28327120 28327120 + Missense_Mutation SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr21:28327120C>A uc002ymg.2 - 2 1904 c.1175G>T c.(1174-1176)CGC>CTC p.R392L NM_007038 NP_008969 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 392 Peptidase M12B. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(1)|pancreas(1) 4 AGCACAGCTGCGCTCTGGAGA 0.493 33 75 --- --- --- --- PASS SON 6651 broad.mit.edu 37 21 34931601 34931601 + Silent SNP G A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr21:34931601G>A uc002yse.1 + 5 6436 c.6387G>A c.(6385-6387)TCG>TCA p.S2129S SON_uc002ysc.2_Silent_p.S2129S|SON_uc002ysd.2_Silent_p.S1120S|SON_uc002ysf.1_Silent_p.S157S|SON_uc002ysg.2_Silent_p.S1120S NM_138927 NP_620305 P18583 SON_HUMAN SON DNA-binding protein isoform F 2129 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding ovary(4)|skin(2) 6 CTCATGTTTCGGATGAAGAGG 0.313 66 123 --- --- --- --- PASS KRTAP10-7 386675 broad.mit.edu 37 21 46021444 46021444 + Missense_Mutation SNP G T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr21:46021444G>T uc002zfn.3 + 2 933 c.908G>T c.(907-909)TGC>TTC p.C303F C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198689 NP_941962 P60409 KR107_HUMAN keratin associated protein 10-7 308 27.|30 X 5 AA repeats of C-C-X(3). keratin filament 0 ACCTCCTGCTGCAGACCCTCC 0.672 129 48 --- --- --- --- PASS DIP2A 23181 broad.mit.edu 37 21 47971581 47971581 + Silent SNP G T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr21:47971581G>T uc002zjo.2 + 24 3057 c.2874G>T c.(2872-2874)CTG>CTT p.L958L DIP2A_uc011afy.1_Silent_p.L894L|DIP2A_uc011afz.1_Silent_p.L954L NM_015151 NP_055966 Q14689 DIP2A_HUMAN disco-interacting protein 2A isoform a 958 multicellular organismal development nucleus catalytic activity|transcription factor binding ovary(2) 2 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) TGGGGAACCTGGTTGCTGGGA 0.552 30 54 --- --- --- --- PASS CCT8L2 150160 broad.mit.edu 37 22 17072642 17072642 + Missense_Mutation SNP G C C TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr22:17072642G>C uc002zlp.1 - 1 1059 c.799C>G c.(799-801)CTA>GTA p.L267V NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN T-complex protein 1 267 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) AATTGAGCTAGATCAGCAGGA 0.512 91 159 --- --- --- --- PASS IL17RA 23765 broad.mit.edu 37 22 17579730 17579730 + Missense_Mutation SNP T A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr22:17579730T>A uc002zly.2 + 4 509 c.376T>A c.(376-378)TGC>AGC p.C126S IL17RA_uc010gqt.2_Missense_Mutation_p.C126S NM_014339 NP_055154 Q96F46 I17RA_HUMAN interleukin 17A receptor precursor 126 Extracellular (Potential). fibroblast activation|positive regulation of interleukin-23 production integral to plasma membrane interleukin-17 receptor activity skin(2) 2 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.241) TGAACGTTTGTGCGTCAGGTT 0.507 27 78 --- --- --- --- PASS LOC96610 96610 broad.mit.edu 37 22 22730834 22730834 + RNA SNP A G G TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr22:22730834A>G uc011aim.1 + 44 c.5001A>G Parts of antibodies, mostly variable regions. 0 TCTGAGGATGAGGCTGACTAT 0.537 91 206 --- --- --- --- PASS LOC96610 96610 broad.mit.edu 37 22 22782255 22782255 + RNA SNP A C C TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr22:22782255A>C uc011aim.1 + 63 c.6547A>C Parts of antibodies, mostly variable regions. 0 TGGAGTCCCCAGCCGCTTCTC 0.512 56 105 --- --- --- --- PASS FAM19A5 25817 broad.mit.edu 37 22 49103557 49103557 + Nonsense_Mutation SNP T A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr22:49103557T>A uc003bim.3 + 3 408 c.291T>A c.(289-291)TGT>TGA p.C97* FAM19A5_uc003bio.3_Nonsense_Mutation_p.C90* NM_001082967 NP_001076436 Q7Z5A7 F19A5_HUMAN family with sequence similarity 19 (chemokine 97 extracellular region|integral to membrane large_intestine(1) 1 all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195) UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119) AGCAGTGGTGTGACATGCTTC 0.572 29 62 --- --- --- --- PASS NLGN4X 57502 broad.mit.edu 37 X 5821721 5821721 + Missense_Mutation SNP G T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chrX:5821721G>T uc010ndh.2 - 5 1499 c.998C>A c.(997-999)CCG>CAG p.P333Q NLGN4X_uc004crp.2_Missense_Mutation_p.P353Q|NLGN4X_uc004crq.2_Missense_Mutation_p.P333Q|NLGN4X_uc010ndi.2_Missense_Mutation_p.P370Q|NLGN4X_uc004crr.2_Missense_Mutation_p.P333Q|NLGN4X_uc010ndj.2_Missense_Mutation_p.P333Q NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN X-linked neuroligin 4 precursor 333 Extracellular (Potential). brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity skin(2)|large_intestine(1)|ovary(1) 4 GTAGGTGGCCGGGGTGATGGT 0.587 145 37 --- --- --- --- PASS HDHD1A 8226 broad.mit.edu 37 X 6995377 6995377 + Missense_Mutation SNP T A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chrX:6995377T>A uc004crv.2 - 3 471 c.394A>T c.(394-396)AGC>TGC p.S132C HDHD1A_uc011mhm.1_Missense_Mutation_p.S155C|HDHD1A_uc011mhn.1_Missense_Mutation_p.S89C|HDHD1A_uc010ndl.2_Intron|HDHD1A_uc011mho.1_Missense_Mutation_p.S132C NM_012080 NP_036212 Q08623 HDHD1_HUMAN haloacid dehalogenase-like hydrolase domain 132 nucleotide metabolic process metal ion binding|phosphatase activity 0 Colorectal(8;0.0114)|Medulloblastoma(8;0.184) GAAAACAAGCTGAAGAACTCC 0.572 14 2 --- --- --- --- PASS FTHL17 53940 broad.mit.edu 37 X 31089712 31089712 + Missense_Mutation SNP T A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chrX:31089712T>A uc004dcl.1 - 1 462 c.359A>T c.(358-360)CAG>CTG p.Q120L NM_031894 NP_114100 Q9BXU8 FHL17_HUMAN ferritin, heavy polypeptide-like 17 120 Ferritin-like diiron. cellular iron ion homeostasis|iron ion transport ferric iron binding|oxidoreductase activity 0 CACGGCCAGCTGGTACAGATC 0.617 111 29 --- --- --- --- PASS DMD 1756 broad.mit.edu 37 X 32583829 32583829 + Missense_Mutation SNP C G G TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chrX:32583829C>G uc004dda.1 - 16 2226 c.1982G>C c.(1981-1983)AGT>ACT p.S661T DMD_uc004dcz.2_Missense_Mutation_p.S538T|DMD_uc004dcy.1_Missense_Mutation_p.S657T|DMD_uc004ddb.1_Missense_Mutation_p.S653T|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.S653T NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 661 Spectrin 3. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) CTGTGCTGTACTCTTTTCAAG 0.388 103 39 --- --- --- --- PASS CXorf22 170063 broad.mit.edu 37 X 35985769 35985769 + Missense_Mutation SNP A T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chrX:35985769A>T uc004ddj.2 + 10 1693 c.1634A>T c.(1633-1635)AAG>ATG p.K545M CXorf22_uc010ngv.2_RNA NM_152632 NP_689845 Q6ZTR5 CX022_HUMAN hypothetical protein LOC170063 545 large_intestine(1)|lung(1)|ovary(1) 3 CCCACGGGAAAGTTTGTGGTC 0.363 74 21 --- --- --- --- PASS CASK 8573 broad.mit.edu 37 X 41495833 41495833 + Nonsense_Mutation SNP T A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chrX:41495833T>A uc004dfl.3 - 9 959 c.913A>T c.(913-915)AAG>TAG p.K305* CASK_uc004dfk.3_Nonsense_Mutation_p.K120*|CASK_uc004dfm.3_Nonsense_Mutation_p.K305*|CASK_uc004dfn.3_Nonsense_Mutation_p.K305* NM_003688 NP_003679 O14936 CSKP_HUMAN calcium/calmodulin-dependent serine protein 305 Calmodulin-binding. cell adhesion actin cytoskeleton|cytoplasm|nucleus|plasma membrane ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity ovary(3)|lung(2)|stomach(1) 6 TAATTTACCTTTAGTTTCCTC 0.358 57 90 --- --- --- --- PASS CASK 8573 broad.mit.edu 37 X 41495834 41495834 + Silent SNP T G G TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chrX:41495834T>G uc004dfl.3 - 9 958 c.912A>C c.(910-912)CTA>CTC p.L304L CASK_uc004dfk.3_Silent_p.L119L|CASK_uc004dfm.3_Silent_p.L304L|CASK_uc004dfn.3_Silent_p.L304L NM_003688 NP_003679 O14936 CSKP_HUMAN calcium/calmodulin-dependent serine protein 304 cell adhesion actin cytoskeleton|cytoplasm|nucleus|plasma membrane ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity ovary(3)|lung(2)|stomach(1) 6 AATTTACCTTTAGTTTCCTCC 0.358 59 90 --- --- --- --- PASS SUV39H1 6839 broad.mit.edu 37 X 48558930 48558930 + Missense_Mutation SNP A G G TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chrX:48558930A>G uc004dkn.2 + 3 659 c.614A>G c.(613-615)TAC>TGC p.Y205C SUV39H1_uc011mmf.1_Missense_Mutation_p.Y216C|SUV39H1_uc011mmg.1_Intron NM_003173 NP_003164 O43463 SUV91_HUMAN suppressor of variegation 3-9 homolog 1 205 Pre-SET. cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding 0 AAGTTTGCCTACAATGACCAG 0.642 55 17 --- --- --- --- PASS XIST 7503 broad.mit.edu 37 X 73065376 73065376 + RNA SNP G T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chrX:73065376G>T uc004ebm.1 - 1 c.7213C>A NR_001564 Homo sapiens cDNA: FLJ21545 fis, clone COL06195. 0 AGGCTTTCATGTCTATTACAC 0.478 126 19 --- --- --- --- PASS BRWD3 254065 broad.mit.edu 37 X 80047436 80047436 + Missense_Mutation SNP A T T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chrX:80047436A>T uc004edt.2 - 6 610 c.347T>A c.(346-348)CTA>CAA p.L116Q BRWD3_uc004edo.2_5'UTR|BRWD3_uc004edp.2_5'UTR|BRWD3_uc004edq.2_5'UTR|BRWD3_uc010nmj.1_5'UTR|BRWD3_uc004edr.2_Intron|BRWD3_uc004eds.2_5'UTR|BRWD3_uc004edu.2_Intron|BRWD3_uc004edv.2_5'UTR|BRWD3_uc004edw.2_5'UTR|BRWD3_uc004edx.2_5'UTR|BRWD3_uc004edy.2_5'UTR|BRWD3_uc004edz.2_5'UTR|BRWD3_uc004eea.2_5'UTR|BRWD3_uc004eeb.2_5'UTR NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 116 WD 1. ovary(4) 4 CCCATTCCATAGTGTACTCTT 0.373 37 4 --- --- --- --- PASS HDX 139324 broad.mit.edu 37 X 83724271 83724271 + Missense_Mutation SNP G A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chrX:83724271G>A uc004eek.1 - 3 569 c.460C>T c.(460-462)CCT>TCT p.P154S HDX_uc011mqv.1_Missense_Mutation_p.P154S|HDX_uc004eel.1_Missense_Mutation_p.P96S NM_144657 NP_653258 Q7Z353 HDX_HUMAN highly divergent homeobox 154 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity upper_aerodigestive_tract(1)|ovary(1) 2 CTTTGGACAGGAATGTGTAAC 0.358 218 47 --- --- --- --- PASS SAGE1 55511 broad.mit.edu 37 X 134990721 134990721 + Silent SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chrX:134990721C>A uc004ezh.2 + 12 1553 c.1386C>A c.(1384-1386)TCC>TCA p.S462S SAGE1_uc010nry.1_Silent_p.S431S|SAGE1_uc011mvv.1_Intron NM_018666 NP_061136 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 462 ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(192;0.000127) ATGTTCTATCCGGGCTTATTA 0.403 132 41 --- --- --- --- PASS UBE2NL 389898 broad.mit.edu 37 X 142967238 142967238 + Silent SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chrX:142967238C>A uc004fca.2 + 1 66 c.36C>A c.(34-36)ACC>ACA p.T12T NM_001012989 NP_001013007 Q5JXB2 UE2NL_HUMAN ubiquitin-conjugating enzyme E2N-like 12 acid-amino acid ligase activity 0 Acute lymphoblastic leukemia(192;6.56e-05) TCAAGGAAACCCAGCGTTTGC 0.468 9 29 --- --- --- --- PASS PNCK 139728 broad.mit.edu 37 X 152937080 152937080 + Missense_Mutation SNP C A A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chrX:152937080C>A uc011myu.1 - 6 897 c.711G>T c.(709-711)ATG>ATT p.M237I PNCK_uc011myt.1_Missense_Mutation_p.M171I|PNCK_uc004fia.2_Missense_Mutation_p.M166I|PNCK_uc004fhz.3_Missense_Mutation_p.M52I|PNCK_uc010nuh.2_3'UTR|PNCK_uc011myv.1_Missense_Mutation_p.M181I|PNCK_uc011myw.1_Missense_Mutation_p.M181I NM_001039582 NP_001034671 Q6P2M8 KCC1B_HUMAN pregnancy upregulated non-ubiquitously expressed 154 Protein kinase. cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) AGTCAGAGACCATGATCTTCG 0.592 127 54 --- --- --- --- PASS TNFRSF18 8784 broad.mit.edu 37 1 1139493 1139493 + Frame_Shift_Del DEL G - - TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr1:1139493delG uc001adc.2 - 4 660 c.522delC c.(520-522)GCCfs p.A174fs TNFRSF18_uc001ada.2_Frame_Shift_Del_p.A102fs|TNFRSF18_uc001adb.2_Frame_Shift_Del_p.A174fs|TNFRSF18_uc001add.2_Intron NM_004195 NP_004186 Q9Y5U5 TNR18_HUMAN tumor necrosis factor receptor superfamily, 174 Helical; (Potential). anti-apoptosis|apoptosis extracellular region|integral to plasma membrane tumor necrosis factor receptor activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GGACGCAGGCGGCCACGGCCA 0.677 12 11 --- --- --- --- ZCCHC3 85364 broad.mit.edu 37 20 278688 278690 + In_Frame_Del DEL CGG - - rs5839847 TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 Somatic Phase_I Capture Illumina GAIIx 0b87a82d-096c-4dd7-80c4-b4054fc1eba2 1548ab05-9fc4-4248-919f-0c409375ff14 g.chr20:278688_278690delCGG uc002wdf.2 + 1 485_487 c.461_463delCGG c.(460-465)CCGGCG>CCG p.A158del ZCCHC3_uc002wdg.2_Intron NM_033089 NP_149080 Q9NUD5 ZCHC3_HUMAN zinc finger, CCHC domain containing 3 158 Poly-Ala. nucleic acid binding|zinc ion binding 0 all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.149) CAGGATGAgccggcggcggcggc 0.635 4 2 --- --- --- ---