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 AADACL4 343066 broad.mit.edu 37 1 12726619 12726619 + Missense_Mutation SNP G C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:12726619G>C uc001auf.2 + 4 1097 c.1097G>C c.(1096-1098)CGC>CCC p.R366P NM_001013630 NP_001013652 Q5VUY2 ADCL4_HUMAN arylacetamide deacetylase-like 4 366 Lumenal (Potential). integral to membrane carboxylesterase activity 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384) CAGGGGGTCCGCGTGACATGG 0.488 17 268 --- --- --- --- PASS CD164L2 388611 broad.mit.edu 37 1 27709155 27709155 + Nonsense_Mutation SNP T A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:27709155T>A uc001boc.2 - 2 167 c.91A>T c.(91-93)AAA>TAA p.K31* NM_207397 NP_997280 Q6UWJ8 C16L2_HUMAN CD164 sialomucin-like 2 31 Extracellular (Potential). integral to membrane 0 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) CGAGCTCCTTTACCTGGTAGT 0.642 22 31 --- --- --- --- PASS KHDRBS1 10657 broad.mit.edu 37 1 32504202 32504202 + Missense_Mutation SNP A G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:32504202A>G uc001bub.2 + 7 1263 c.1157A>G c.(1156-1158)TAT>TGT p.Y386C KHDRBS1_uc001bua.1_Missense_Mutation_p.Y347C|KHDRBS1_uc001buc.1_RNA NM_006559 NP_006550 Q07666 KHDR1_HUMAN KH domain containing, RNA binding, signal 386 cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent membrane|nucleus DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity ovary(1) 1 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) TACGAAGGCTATTACAGCCAG 0.403 9 81 --- --- --- --- PASS CSMD2 114784 broad.mit.edu 37 1 33987099 33987099 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:33987099C>A uc001bxn.1 - 67 10158 c.10129G>T c.(10129-10131)GGC>TGC p.G3377C CSMD2_uc001bxm.1_Missense_Mutation_p.G3521C NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3377 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) AAGCCTTGGCCCTTGACAGAG 0.602 19 67 --- --- --- --- PASS CSMD2 114784 broad.mit.edu 37 1 34038220 34038220 + Nonsense_Mutation SNP T A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:34038220T>A uc001bxn.1 - 51 7683 c.7654A>T c.(7654-7656)AAG>TAG p.K2552* CSMD2_uc001bxm.1_Nonsense_Mutation_p.K2550* NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2552 Extracellular (Potential).|Sushi 15. integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TACATGGCCTTGGTTCCCACT 0.552 63 107 --- --- --- --- PASS CSMD2 114784 broad.mit.edu 37 1 34254260 34254260 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:34254260C>A uc001bxn.1 - 12 1513 c.1484G>T c.(1483-1485)TGG>TTG p.W495L CSMD2_uc001bxm.1_Missense_Mutation_p.W535L NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 495 CUB 3.|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) GAAGAGGAGCCACATTTGATG 0.517 6 86 --- --- --- --- PASS C1orf94 84970 broad.mit.edu 37 1 34666588 34666588 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:34666588C>A uc001bxs.3 + 3 1054 c.655C>A c.(655-657)CCG>ACG p.P219T C1orf94_uc001bxt.2_Missense_Mutation_p.P409T NM_032884 NP_116273 Q6P1W5 CA094_HUMAN hypothetical protein LOC84970 isoform b 219 protein binding 0 Myeloproliferative disorder(586;0.0393) AAGCGGGCAGCCGAGACTTCG 0.582 25 10 --- --- --- --- PASS GRIK3 2899 broad.mit.edu 37 1 37271862 37271862 + Silent SNP C G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:37271862C>G uc001caz.2 - 14 2292 c.2157G>C c.(2155-2157)GTG>GTC p.V719V GRIK3_uc001cba.1_Silent_p.V719V NM_000831 NP_000822 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 719 Extracellular (Potential). negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity ovary(3)|skin(2)|large_intestine(1)|breast(1) 7 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) CGTTGTTCTTCACCAGCGCCG 0.597 5 139 --- --- --- --- PASS ZNF642 339559 broad.mit.edu 37 1 40947448 40947448 + Missense_Mutation SNP G C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:40947448G>C uc001cfo.2 + 3 435 c.141G>C c.(139-141)CAG>CAC p.Q47H ZNF642_uc009vwb.2_Missense_Mutation_p.Q47H|ZNF642_uc010ojk.1_Missense_Mutation_p.Q47H NM_198494 NP_940896 Q49AA0 ZN642_HUMAN zinc finger protein 642 47 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;8.81e-19) TGCTGTCTCAGGATGCTGAGG 0.502 12 190 --- --- --- --- PASS DPH2 1802 broad.mit.edu 37 1 44435983 44435983 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:44435983G>T uc001ckz.2 + 1 331 c.136G>T c.(136-138)GGG>TGG p.G46W DPH2_uc001cla.2_Missense_Mutation_p.G46W|DPH2_uc010okk.1_5'UTR|DPH2_uc001clb.2_Intron NM_001384 NP_001375 Q9BQC3 DPH2_HUMAN diphthamide biosynthesis protein 2 isoform a 46 peptidyl-diphthamide biosynthetic process from peptidyl-histidine cytoplasm ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) CCGCGACCTGGGGTGTGAACG 0.627 43 91 --- --- --- --- PASS EPS15 2060 broad.mit.edu 37 1 51829589 51829589 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:51829589C>A uc001csq.1 - 23 2400 c.2308G>T c.(2308-2310)GCA>TCA p.A770S EPS15_uc009vyz.1_Missense_Mutation_p.A636S|EPS15_uc001csp.3_Missense_Mutation_p.A456S NM_001981 NP_001972 P42566 EPS15_HUMAN epidermal growth factor receptor pathway 770 15 X 3 AA repeats of D-P-F.|Pro-rich.|SH3-binding. cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport cytosol|early endosome membrane calcium ion binding|SH3 domain binding lung(1)|kidney(1) 2 GGTGGCAGTGCTGGGGGTTCA 0.453 T MLL ALL 12 120 --- --- --- --- PASS SLC1A7 6512 broad.mit.edu 37 1 53569103 53569103 + Silent SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:53569103C>A uc001cuy.2 - 5 780 c.612G>T c.(610-612)CCG>CCT p.P204P NM_006671 NP_006662 O00341 EAA5_HUMAN solute carrier family 1 (glutamate transporter), 204 Extracellular (Potential). integral to membrane|plasma membrane high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity ovary(2)|large_intestine(1) 3 Colorectal(1306;0.234) L-Glutamic Acid(DB00142) CCTCGGGCGGCGGGGTCAGGT 0.627 8 12 --- --- --- --- PASS C1orf83 127428 broad.mit.edu 37 1 54562010 54562010 + Missense_Mutation SNP C G G rs41294786 byFrequency TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:54562010C>G uc001cwt.1 + 5 691 c.491C>G c.(490-492)TCC>TGC p.S164C C1orf83_uc001cwu.1_RNA NM_153035 NP_694580 Q96MN5 TEAN2_HUMAN hypothetical protein LOC127428 164 TFIIS central. transcription, DNA-dependent nucleus DNA binding 0 CATCTCTGCTCCCGCCTCATT 0.488 9 178 --- --- --- --- PASS ANGPTL3 27329 broad.mit.edu 37 1 63064458 63064458 + Missense_Mutation SNP T A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:63064458T>A uc001das.1 + 2 638 c.587T>A c.(586-588)ATA>AAA p.I196K DOCK7_uc001dan.2_Intron|DOCK7_uc001dao.2_Intron|DOCK7_uc001dap.2_Intron|DOCK7_uc001daq.2_Intron|DOCK7_uc009wah.1_Intron NM_014495 NP_055310 Q9Y5C1 ANGL3_HUMAN angiopoietin-like 3 precursor 196 Potential. acylglycerol homeostasis|artery morphogenesis|cell-matrix adhesion|cholesterol homeostasis|cholesterol metabolic process|fatty acid metabolic process|glycerol metabolic process|integrin-mediated signaling pathway|lipid storage|negative regulation of lipoprotein lipase activity|negative regulation of phospholipase activity|phospholipid catabolic process|phospholipid homeostasis|positive regulation of angiogenesis|positive regulation of cell migration|positive regulation of lipid catabolic process|triglyceride homeostasis extracellular space cell surface binding|growth factor activity|integrin binding|phospholipase inhibitor activity 0 CATAGTCAAATAAAAGAAATA 0.318 9 81 --- --- --- --- PASS SLC44A5 204962 broad.mit.edu 37 1 75693523 75693523 + Missense_Mutation SNP C G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:75693523C>G uc001dgu.2 - 13 1017 c.873G>C c.(871-873)CAG>CAC p.Q291H SLC44A5_uc001dgt.2_Missense_Mutation_p.Q291H|SLC44A5_uc001dgs.2_Missense_Mutation_p.Q249H|SLC44A5_uc001dgr.2_Missense_Mutation_p.Q249H|SLC44A5_uc010oqz.1_Missense_Mutation_p.Q330H|SLC44A5_uc010ora.1_Missense_Mutation_p.Q285H|SLC44A5_uc010orb.1_Missense_Mutation_p.Q161H NM_152697 NP_689910 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 isoform A 291 Extracellular (Potential). integral to membrane|plasma membrane choline transmembrane transporter activity ovary(2)|skin(2) 4 TGGTGTACTGCTGGTAACAGT 0.338 26 55 --- --- --- --- PASS AK5 26289 broad.mit.edu 37 1 77759531 77759531 + Missense_Mutation SNP A G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:77759531A>G uc001dhn.2 + 3 558 c.301A>G c.(301-303)ATC>GTC p.I101V AK5_uc001dho.2_Missense_Mutation_p.I75V|AK5_uc001dhm.1_Intron NM_174858 NP_777283 Q9Y6K8 KAD5_HUMAN adenylate kinase 5 isoform 1 101 ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction centrosome|cytosol adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity skin(1) 1 GCTCCCTCCAATCCATCAATT 0.408 3 74 --- --- --- --- PASS GNG5 2787 broad.mit.edu 37 1 84967627 84967627 + Missense_Mutation SNP T A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:84967627T>A uc001djw.3 - 3 462 c.108A>T c.(106-108)AAA>AAT p.K36N NM_005274 NP_005265 P63218 GBG5_HUMAN guanine nucleotide binding protein (G protein), 36 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission heterotrimeric G-protein complex GTPase activity|signal transducer activity 0 all cancers(265;0.00634)|Epithelial(280;0.0175)|OV - Ovarian serous cystadenocarcinoma(397;0.159) GACAGAACTGTTTCAAGTCTG 0.438 12 50 --- --- --- --- PASS COL24A1 255631 broad.mit.edu 37 1 86523622 86523622 + Missense_Mutation SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:86523622C>T uc001dlj.2 - 10 1885 c.1843G>A c.(1843-1845)GGT>AGT p.G615S COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Missense_Mutation_p.G615S NM_152890 NP_690850 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 precursor 615 cell adhesion collagen extracellular matrix structural constituent ovary(3)|central_nervous_system(1)|skin(1) 5 all cancers(265;0.0627)|Epithelial(280;0.0689) ACTTGTGCACCTTTAGGACCT 0.338 15 66 --- --- --- --- PASS COL24A1 255631 broad.mit.edu 37 1 86529415 86529415 + Missense_Mutation SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:86529415C>T uc001dlj.2 - 8 1777 c.1735G>A c.(1735-1737)GGA>AGA p.G579R COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Missense_Mutation_p.G579R NM_152890 NP_690850 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 precursor 579 Collagen-like 2. cell adhesion collagen extracellular matrix structural constituent ovary(3)|central_nervous_system(1)|skin(1) 5 all cancers(265;0.0627)|Epithelial(280;0.0689) CCTGGAAGTCCTGGGAGTCCA 0.388 11 193 --- --- --- --- PASS STXBP3 6814 broad.mit.edu 37 1 109319046 109319046 + Splice_Site SNP G C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:109319046G>C uc001dvy.2 + 8 759 c.684_splice c.e8+1 p.K228_splice STXBP3_uc001dvz.2_Splice_Site NM_007269 NP_009200 O00186 STXB3_HUMAN syntaxin binding protein 3 negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule syntaxin-2 binding ovary(3)|central_nervous_system(1) 4 all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231) CCTAATAAAGGTAATGTATGC 0.338 6 29 --- --- --- --- PASS OVGP1 5016 broad.mit.edu 37 1 111966324 111966324 + Silent SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:111966324G>T uc001eba.2 - 5 380 c.324C>A c.(322-324)ACC>ACA p.T108T OVGP1_uc001eaz.2_Silent_p.T70T|OVGP1_uc010owb.1_5'UTR|OVGP1_uc010owc.1_Silent_p.T98T NM_002557 NP_002548 Q12889 OVGP1_HUMAN oviductal glycoprotein 1 precursor 108 chitin catabolic process|female pregnancy|single fertilization transport vesicle cation binding|chitinase activity ovary(4)|large_intestine(1) 5 all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302) Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14) ACAACATAGTGGTGAATCTGT 0.463 9 91 --- --- --- --- PASS ANKRD35 148741 broad.mit.edu 37 1 145563028 145563028 + Missense_Mutation SNP G C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:145563028G>C uc001eob.1 + 10 2824 c.2716G>C c.(2716-2718)GAG>CAG p.E906Q NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Missense_Mutation_p.E749Q NM_144698 NP_653299 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 906 Potential. ovary(4)|skin(1) 5 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CGAGCAGTTTGAGAAAACGGC 0.657 19 62 --- --- --- --- PASS SETDB1 9869 broad.mit.edu 37 1 150936113 150936113 + Missense_Mutation SNP G C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:150936113G>C uc001evu.2 + 20 3755 c.3565G>C c.(3565-3567)GAG>CAG p.E1189Q SETDB1_uc001evv.2_Missense_Mutation_p.E1189Q|SETDB1_uc009wmg.1_Missense_Mutation_p.E1189Q NM_001145415 NP_001138887 Q15047 SETB1_HUMAN SET domain, bifurcated 1 isoform 1 1189 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1) 3 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) GGACAAGGGGGAGAGCGCACC 0.498 44 436 --- --- --- --- PASS LASS2 29956 broad.mit.edu 37 1 150940899 150940899 + Missense_Mutation SNP T C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:150940899T>C uc001evy.2 - 3 650 c.263A>G c.(262-264)TAC>TGC p.Y88C LASS2_uc001evz.2_Missense_Mutation_p.Y88C|LASS2_uc009wmh.2_5'UTR NM_181746 NP_859530 Q96G23 CERS2_HUMAN LAG1 longevity assurance 2 88 Cytoplasmic (Potential).|Homeobox. endoplasmic reticulum membrane|integral to membrane|nuclear membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity 0 all_lung(15;8.07e-35)|Lung NSC(24;7.93e-31)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) ACTGGTCAGGTAGAAATGTTC 0.567 19 59 --- --- --- --- PASS RPTN 126638 broad.mit.edu 37 1 152127228 152127228 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:152127228G>T uc001ezs.1 - 3 2412 c.2347C>A c.(2347-2349)CAG>AAG p.Q783K NM_001122965 NP_001116437 Q6XPR3 RPTN_HUMAN repetin 783 Gln-rich. proteinaceous extracellular matrix calcium ion binding 0 TCTCATCTCTGATGGTTCTGC 0.458 200 703 --- --- --- --- PASS HRNR 388697 broad.mit.edu 37 1 152192255 152192255 + Missense_Mutation SNP G A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:152192255G>A uc001ezt.1 - 3 1926 c.1850C>T c.(1849-1851)TCA>TTA p.S617L NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 617 6. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGACTGTCCTGATGTAGAACC 0.552 157 448 --- --- --- --- PASS FLG2 388698 broad.mit.edu 37 1 152328470 152328470 + Missense_Mutation SNP A T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:152328470A>T uc001ezw.3 - 3 1865 c.1792T>A c.(1792-1794)TCT>ACT p.S598T uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 598 Ser-rich. calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCTGAGCCAGACCCATGTTGT 0.512 159 489 --- --- --- --- PASS ATP8B2 57198 broad.mit.edu 37 1 154316387 154316387 + Silent SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:154316387C>T uc001fex.2 + 18 1876 c.1876C>T c.(1876-1878)CTG>TTG p.L626L NM_020452 NP_065185 P98198 AT8B2_HUMAN ATPase, class I, type 8B, member 2 isoform a 612 Cytoplasmic (Potential). ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(1)|skin(1) 2 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) AGGGGAAGGGCTGAGGACCCT 0.463 30 89 --- --- --- --- PASS RHBG 57127 broad.mit.edu 37 1 156352620 156352620 + Silent SNP T C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:156352620T>C uc010pho.1 + 8 1232 c.1194T>C c.(1192-1194)TTT>TTC p.F398F RHBG_uc010phm.1_3'UTR|RHBG_uc010phn.1_RNA|RHBG_uc001fos.2_Silent_p.F329F|RHBG_uc009wrz.2_Silent_p.F366F|RHBG_uc001for.2_Silent_p.F368F NM_020407 NP_065140 Q9H310 RHBG_HUMAN Rhesus blood group, B glycoprotein 398 Helical; (Potential). transepithelial ammonium transport anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding ovary(2) 2 Hepatocellular(266;0.158) TCGGGCTGTTTGTCACACTGA 0.562 OREG0013870 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 48 171 --- --- --- --- PASS OR10K2 391107 broad.mit.edu 37 1 158389791 158389791 + Missense_Mutation SNP A G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:158389791A>G uc010pii.1 - 1 866 c.866T>C c.(865-867)ATT>ACT p.I289T NM_001004476 NP_001004476 Q6IF99 O10K2_HUMAN olfactory receptor, family 10, subfamily K, 289 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_hematologic(112;0.0378) CAAGCTATAAATCATTGGGTT 0.323 38 128 --- --- --- --- PASS OR6Y1 391112 broad.mit.edu 37 1 158517456 158517456 + Missense_Mutation SNP C G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:158517456C>G uc010pil.1 - 1 440 c.440G>C c.(439-441)GGC>GCC p.G147A NM_001005189 NP_001005189 Q8NGX8 OR6Y1_HUMAN olfactory receptor, family 6, subfamily Y, 147 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) AGCCAGTGTGCCACAGAGCTG 0.473 17 68 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158617474 158617474 + Missense_Mutation SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:158617474C>T uc001fst.1 - 27 3950 c.3751G>A c.(3751-3753)GAG>AAG p.E1251K NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1251 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) GGATGGGACTCACTGAGCCGC 0.532 26 100 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158653176 158653176 + Silent SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:158653176G>T uc001fst.1 - 3 574 c.375C>A c.(373-375)GCC>GCA p.A125A NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 125 Spectrin 2. Missing (in Ref. 3; AAA60575). 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) TTTCTTCGTGGGCAGAATGAC 0.378 75 222 --- --- --- --- PASS PYHIN1 149628 broad.mit.edu 37 1 158908901 158908901 + Missense_Mutation SNP G C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:158908901G>C uc001ftb.2 + 4 688 c.443G>C c.(442-444)GGA>GCA p.G148A PYHIN1_uc001fta.3_Missense_Mutation_p.G148A|PYHIN1_uc001ftc.2_Missense_Mutation_p.G139A|PYHIN1_uc001ftd.2_Missense_Mutation_p.G148A|PYHIN1_uc001fte.2_Missense_Mutation_p.G139A NM_152501 NP_689714 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 alpha 1 148 cell cycle nuclear speck ovary(3)|pancreas(1) 4 all_hematologic(112;0.0378) GAAGAGACTGGAACCAAAAGG 0.453 35 81 --- --- --- --- PASS OR10J3 441911 broad.mit.edu 37 1 159283906 159283906 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:159283906C>A uc010piu.1 - 1 544 c.544G>T c.(544-546)GTG>TTG p.V182L NM_001004467 NP_001004467 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, 182 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 all_hematologic(112;0.0429) AGGTGTCTCACATCACAGAAG 0.498 23 98 --- --- --- --- PASS LY9 4063 broad.mit.edu 37 1 160769666 160769666 + Missense_Mutation SNP C A A rs147015580 byFrequency TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:160769666C>A uc001fwu.2 + 2 298 c.248C>A c.(247-249)CCC>CAC p.P83H LY9_uc001fwt.2_Missense_Mutation_p.P83H|LY9_uc010pjs.1_Missense_Mutation_p.P83H|LY9_uc001fwv.2_Missense_Mutation_p.P83H|LY9_uc001fww.2_Missense_Mutation_p.P83H|LY9_uc001fwx.2_Missense_Mutation_p.P83H|LY9_uc001fwy.1_5'UTR NM_002348 NP_002339 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 isoform a 83 Extracellular (Potential).|Ig-like V-type 1. cell adhesion|immunoglobulin mediated immune response integral to membrane ovary(1) 1 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) TGGATTGGTCCCAAAAATGCT 0.498 28 144 --- --- --- --- PASS RXRG 6258 broad.mit.edu 37 1 165380292 165380292 + Missense_Mutation SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:165380292C>T uc001gda.2 - 5 977 c.677G>A c.(676-678)TGT>TAT p.C226Y NM_006917 NP_008848 P48443 RXRG_HUMAN retinoid X receptor, gamma isoform a 226 Hinge. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding 0 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755) ACTGGTAGCACATTCTGCCTC 0.493 27 112 --- --- --- --- PASS DUSP27 92235 broad.mit.edu 37 1 167097814 167097814 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:167097814G>T uc001geb.1 + 5 3446 c.3446G>T c.(3445-3447)AGG>ATG p.R1149M NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 1149 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity ovary(3) 3 GAAGAAACCAGGACCAAGCTG 0.542 17 52 --- --- --- --- PASS C1orf129 80133 broad.mit.edu 37 1 170959017 170959017 + Missense_Mutation SNP A C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:170959017A>C uc001ghg.2 + 11 1031 c.901A>C c.(901-903)ATT>CTT p.I301L C1orf129_uc009wvy.2_Missense_Mutation_p.I108L|C1orf129_uc010plz.1_Missense_Mutation_p.I301L NM_025063 NP_079339 Q5TGP6 CA129_HUMAN hypothetical protein LOC80133 isoform 2 301 binding pancreas(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CGTGGATGCTATTTACAGGCA 0.403 56 231 --- --- --- --- PASS SERPINC1 462 broad.mit.edu 37 1 173883815 173883815 + Missense_Mutation SNP T C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:173883815T>C uc001gjt.2 - 2 403 c.284A>G c.(283-285)TAT>TGT p.Y95C NM_000488 NP_000479 P01008 ANT3_HUMAN serpin peptidase inhibitor, clade C, member 1 95 Y -> S (in AT3D; type-I).|Y -> C (in AT3D; type-I). blood coagulation|regulation of proteolysis extracellular space|plasma membrane heparin binding|protease binding|serine-type endopeptidase inhibitor activity ovary(1) 1 Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109) CAGGTGCTGATAGAAAGTGGT 0.517 OREG0013990 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 94 271 --- --- --- --- PASS TNN 63923 broad.mit.edu 37 1 175092565 175092565 + Missense_Mutation SNP G A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:175092565G>A uc001gkl.1 + 12 2793 c.2680G>A c.(2680-2682)GAC>AAC p.D894N NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 894 Fibronectin type-III 8. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CCTAGTGACTGACTGGGTGAC 0.483 28 103 --- --- --- --- PASS TNR 7143 broad.mit.edu 37 1 175335049 175335049 + Missense_Mutation SNP C G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:175335049C>G uc001gkp.1 - 9 2360 c.2279G>C c.(2278-2280)CGG>CCG p.R760P TNR_uc009wwu.1_Missense_Mutation_p.R760P NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 760 Fibronectin type-III 5. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) GCTCTGCTGCCGACCCCTCTC 0.532 54 133 --- --- --- --- PASS C1orf220 400798 broad.mit.edu 37 1 178514779 178514779 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:178514779G>T uc001glx.1 + 2 522 c.165G>T c.(163-165)TGG>TGT p.W55C C1orf49_uc001glv.1_Intron NM_207467 NP_997350 hypothetical protein LOC400798 0 CAAGTGAGTGGGCCACGAAGG 0.498 34 88 --- --- --- --- PASS LHX4 89884 broad.mit.edu 37 1 180235536 180235536 + Silent SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:180235536C>A uc001goe.1 + 3 481 c.258C>A c.(256-258)GGC>GGA p.G86G NM_033343 NP_203129 Q969G2 LHX4_HUMAN LIM homeobox protein 4 86 LIM zinc-binding 1. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 GGCGCTTCGGCACAAAATGCA 0.607 38 126 --- --- --- --- PASS PRG4 10216 broad.mit.edu 37 1 186277377 186277377 + Silent SNP T A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:186277377T>A uc001gru.3 + 7 2577 c.2526T>A c.(2524-2526)CCT>CCA p.P842P PRG4_uc001grt.3_Silent_p.P801P|PRG4_uc009wyl.2_Silent_p.P749P|PRG4_uc009wym.2_Silent_p.P708P|PRG4_uc010poo.1_RNA NM_005807 NP_005798 Q92954 PRG4_HUMAN proteoglycan 4 isoform A 842 59 X 8 AA repeats of K-X-P-X-P-T-T-X.|58. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 CCAAGAAGCCTGCTCCAACTA 0.552 107 401 --- --- --- --- PASS FAM5C 339479 broad.mit.edu 37 1 190250753 190250753 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:190250753G>T uc001gse.1 - 3 596 c.364C>A c.(364-366)CAA>AAA p.Q122K FAM5C_uc010pot.1_Intron NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 122 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) TCTGTGATTTGCTGAAGGGTA 0.463 39 160 --- --- --- --- PASS FAM58B 339521 broad.mit.edu 37 1 200183141 200183141 + Silent SNP C G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:200183141C>G uc009wzi.1 + 1 486 c.450C>G c.(448-450)CTC>CTG p.L150L NM_001105517 NP_001098987 P0C7Q3 FA58B_HUMAN family with sequence similarity 58 member B 150 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent protein kinase binding 0 Prostate(682;0.19) AGTACCTGCTCTACTACCTGG 0.612 43 101 --- --- --- --- PASS IPO9 55705 broad.mit.edu 37 1 201839870 201839870 + Missense_Mutation SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:201839870C>T uc001gwz.2 + 18 2343 c.2293C>T c.(2293-2295)CGC>TGC p.R765C NM_018085 NP_060555 Q96P70 IPO9_HUMAN importin 9 765 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity ovary(2) 2 CTTTGTGGGCCGCCTTGTTTC 0.582 39 137 --- --- --- --- PASS KLHL12 59349 broad.mit.edu 37 1 202888999 202888999 + Missense_Mutation SNP C G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:202888999C>G uc001gyo.1 - 3 433 c.233G>C c.(232-234)GGT>GCT p.G78A KLHL12_uc001gyn.1_5'Flank|KLHL12_uc010pqc.1_Missense_Mutation_p.G116A|KLHL12_uc009xah.1_Missense_Mutation_p.G78A NM_021633 NP_067646 Q53G59 KLH12_HUMAN kelch-like 12 78 BTB. Wnt receptor signaling pathway protein binding 0 BRCA - Breast invasive adenocarcinoma(75;0.166) GGCAGTCAAACCTTGGATGTC 0.393 25 99 --- --- --- --- PASS CDK18 5129 broad.mit.edu 37 1 205495906 205495906 + Missense_Mutation SNP A T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:205495906A>T uc001hcr.2 + 8 979 c.760A>T c.(760-762)AGT>TGT p.S254C CDK18_uc010pri.1_3'UTR|CDK18_uc001hcp.2_Missense_Mutation_p.S224C|CDK18_uc001hcq.2_Missense_Mutation_p.S224C|CDK18_uc010prj.1_Missense_Mutation_p.S135C|CDK18_uc001hcs.2_Missense_Mutation_p.S135C|CDK18_uc009xbm.1_Missense_Mutation_p.S149C|CDK18_uc001hct.2_5'Flank NM_212503 NP_997668 Q07002 CDK18_HUMAN PCTAIRE protein kinase 3 isoform a 222 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity stomach(2) 2 GTTCCAGGACAGTGACCTGAA 0.632 73 259 --- --- --- --- PASS SLC45A3 85414 broad.mit.edu 37 1 205632558 205632558 + Missense_Mutation SNP C G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:205632558C>G uc001hda.1 - 3 700 c.361G>C c.(361-363)GAG>CAG p.E121Q SLC45A3_uc010prn.1_5'Flank|SLC45A3_uc010pro.1_5'UTR|SLC45A3_uc010prp.1_Intron|ELK4_uc010prq.1_Intron NM_033102 NP_149093 Q96JT2 S45A3_HUMAN prostein 121 Helical; Name=4; (Potential). transmembrane transport integral to membrane SLC45A3/BRAF(2) ovary(2)|prostate(2) 4 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0194) AGTGCCAGCTCCAGGGGCCTG 0.652 T ETV1|ETV5|ELK4|ERG prostate 15 25 --- --- --- --- PASS HHIPL2 79802 broad.mit.edu 37 1 222716923 222716923 + Silent SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:222716923C>T uc001hnh.1 - 2 988 c.930G>A c.(928-930)AAG>AAA p.K310K NM_024746 NP_079022 Q6UWX4 HIPL2_HUMAN HHIP-like 2 precursor 310 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding ovary(1) 1 GBM - Glioblastoma multiforme(131;0.0185) CCCGAGAAACCTTCATCTCAC 0.443 20 785 --- --- --- --- PASS SIPA1L2 57568 broad.mit.edu 37 1 232561495 232561495 + Missense_Mutation SNP C G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:232561495C>G uc001hvg.2 - 16 4628 c.4470G>C c.(4468-4470)GAG>GAC p.E1490D SIPA1L2_uc001hvf.2_Missense_Mutation_p.E564D NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 1490 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) TGCAGATGCTCTCGTCAGACA 0.552 6 92 --- --- --- --- PASS KIAA1383 54627 broad.mit.edu 37 1 232942722 232942722 + Silent SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:232942722G>T uc001hvh.2 + 1 2085 c.1953G>T c.(1951-1953)CTG>CTT p.L651L NM_019090 NP_061963 Q9P2G4 K1383_HUMAN hypothetical protein LOC54627 509 ovary(1) 1 all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169) GTTTAAAGCTGACAAATCCTG 0.353 11 53 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237494253 237494253 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:237494253C>A uc001hyl.1 + 3 364 c.244C>A c.(244-246)CTG>ATG p.L82M NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 82 Cytoplasmic (By similarity). cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GCAGGAGATGCTGGCTAACAC 0.493 28 125 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237608766 237608766 + Missense_Mutation SNP A T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:237608766A>T uc001hyl.1 + 14 1356 c.1236A>T c.(1234-1236)GAA>GAT p.E412D NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 412 Cytoplasmic (By similarity). cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AGCATGAAGAATCACGCACAG 0.403 30 147 --- --- --- --- PASS ZP4 57829 broad.mit.edu 37 1 238045744 238045744 + Missense_Mutation SNP C G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:238045744C>G uc001hym.2 - 12 1601 c.1601G>C c.(1600-1602)TGC>TCC p.C534S LOC100130331_uc010pyc.1_Intron NM_021186 NP_067009 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 preproprotein 534 Cytoplasmic (Potential). acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity ovary(2)|skin(1) 3 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) TTGGTCTGGGCAACTCTTCTG 0.443 64 221 --- --- --- --- PASS NLRP3 114548 broad.mit.edu 37 1 247588146 247588146 + Missense_Mutation SNP G C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:247588146G>C uc001icr.2 + 5 1539 c.1401G>C c.(1399-1401)TGG>TGC p.W467C NLRP3_uc001ics.2_Missense_Mutation_p.W467C|NLRP3_uc001icu.2_Missense_Mutation_p.W467C|NLRP3_uc001icw.2_Missense_Mutation_p.W467C|NLRP3_uc001icv.2_Missense_Mutation_p.W467C|NLRP3_uc010pyw.1_Missense_Mutation_p.W465C|NLRP3_uc001ict.1_Missense_Mutation_p.W465C NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 467 NACHT. 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) CCCACCTCTGGGGGCTCTGCT 0.587 16 68 --- --- --- --- PASS OR1C1 26188 broad.mit.edu 37 1 247920935 247920935 + Silent SNP G C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:247920935G>C uc010pza.1 - 1 774 c.774C>G c.(772-774)GTC>GTG p.V258V NM_012353 NP_036485 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, 258 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) GGCTGAAATAGACGGCGATGG 0.517 17 82 --- --- --- --- PASS OR2T6 254879 broad.mit.edu 37 1 248550957 248550957 + Silent SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:248550957G>T uc001iei.1 + 1 48 c.48G>T c.(46-48)GGG>GGT p.G16G NM_001005471 NP_001005471 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, 16 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCCTCATGGGGCTCTTCACTC 0.423 11 131 --- --- --- --- PASS OR2T6 254879 broad.mit.edu 37 1 248551209 248551209 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:248551209G>T uc001iei.1 + 1 300 c.300G>T c.(298-300)CAG>CAT p.Q100H NM_001005471 NP_001005471 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, 100 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GCACTGCTCAGTGCTTTCTCT 0.532 39 92 --- --- --- --- PASS OR2T34 127068 broad.mit.edu 37 1 248737471 248737471 + Missense_Mutation SNP G C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr1:248737471G>C uc001iep.1 - 1 588 c.588C>G c.(586-588)GAC>GAG p.D196E NM_001001821 NP_001001821 Q8NGX1 O2T34_HUMAN olfactory receptor, family 2, subfamily T, 196 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AGAGGGAGACGTCAGAGCAGG 0.517 65 524 --- --- --- --- PASS SMC6 79677 broad.mit.edu 37 2 17902509 17902509 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:17902509C>A uc002rco.2 - 10 1042 c.746G>T c.(745-747)CGC>CTC p.R249L SMC6_uc010exo.2_Missense_Mutation_p.R249L|SMC6_uc002rcn.2_Missense_Mutation_p.R249L|SMC6_uc002rcp.1_Missense_Mutation_p.R275L|SMC6_uc002rcq.2_Missense_Mutation_p.R275L|SMC6_uc002rcr.1_Missense_Mutation_p.R249L NM_001142286 NP_001135758 Q96SB8 SMC6_HUMAN SMC6 protein 249 Potential. DNA recombination|DNA repair chromosome|nucleus ATP binding breast(4)|upper_aerodigestive_tract(1)|kidney(1) 6 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TACACACTGGCGCTTTAGTTC 0.328 11 130 --- --- --- --- PASS APOB 338 broad.mit.edu 37 2 21246424 21246424 + Missense_Mutation SNP C G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:21246424C>G uc002red.2 - 17 2705 c.2577G>C c.(2575-2577)AAG>AAC p.K859N NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 859 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TTACTCCAGCCTTGGCTCCGG 0.413 22 183 --- --- --- --- PASS DPYSL5 56896 broad.mit.edu 37 2 27156171 27156171 + Missense_Mutation SNP G C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:27156171G>C uc002rhu.3 + 7 918 c.760G>C c.(760-762)GGT>CGT p.G254R DPYSL5_uc002rhv.3_Missense_Mutation_p.G254R NM_020134 NP_064519 Q9BPU6 DPYL5_HUMAN dihydropyrimidinase-like 5 254 axon guidance|pyrimidine base catabolic process|signal transduction cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides ovary(2) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TATCTCGGCTGGTGACGTTAT 0.517 14 147 --- --- --- --- PASS MPV17 4358 broad.mit.edu 37 2 27545374 27545374 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:27545374C>A uc002rjr.2 - 1 58 c.11G>T c.(10-12)TGG>TTG p.W4L MPV17_uc002rjq.2_Missense_Mutation_p.W4L|MPV17_uc002rjs.2_Missense_Mutation_p.W4L|MPV17_uc002rjt.2_Intron NM_002437 NP_002428 P39210 MPV17_HUMAN Mpv17 protein 4 cellular response to reactive oxygen species|glomerular basement membrane development|homeostatic process|inner ear development|mitochondrial genome maintenance|regulation of reactive oxygen species metabolic process integral to peroxisomal membrane|mitochondrial inner membrane 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTATGCCCGCCAGAGTGCCAT 0.627 14 136 --- --- --- --- PASS GTF3C2 2976 broad.mit.edu 37 2 27565913 27565913 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:27565913G>T uc002rjv.1 - 4 712 c.349C>A c.(349-351)CCT>ACT p.P117T GTF3C2_uc002rju.1_Missense_Mutation_p.P128T|GTF3C2_uc002rjw.1_Missense_Mutation_p.P117T|GTF3C2_uc010eyz.1_Missense_Mutation_p.P117T NM_001521 NP_001512 Q8WUA4 TF3C2_HUMAN general transcription factor IIIC, polypeptide 117 transcription factor TFIIIC complex ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGAGGATTAGGCTGTTGGGGC 0.537 36 200 --- --- --- --- PASS SUPT7L 9913 broad.mit.edu 37 2 27884013 27884013 + Missense_Mutation SNP T C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:27884013T>C uc002rlh.1 - 3 600 c.257A>G c.(256-258)CAG>CGG p.Q86R SUPT7L_uc002rli.1_Missense_Mutation_p.Q86R|SUPT7L_uc010ymf.1_Intron|SUPT7L_uc002rlj.1_Missense_Mutation_p.Q84R|SUPT7L_uc010ezh.1_Missense_Mutation_p.Q84R|SLC4A1AP_uc002rlk.3_5'Flank NM_014860 NP_055675 O94864 ST65G_HUMAN SPTF-associated factor 65 gamma 86 histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity skin(2) 2 Acute lymphoblastic leukemia(172;0.155) CTGCTGATTCTGGGCCTGAGC 0.522 13 140 --- --- --- --- PASS BIRC6 57448 broad.mit.edu 37 2 32774500 32774500 + Missense_Mutation SNP C G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:32774500C>G uc010ezu.2 + 65 13230 c.13096C>G c.(13096-13098)CAG>GAG p.Q4366E NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 4366 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) GCTTCTCAGTCAGTCCTGCCT 0.433 8 157 --- --- --- --- PASS PRKD3 23683 broad.mit.edu 37 2 37543626 37543626 + Silent SNP T C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:37543626T>C uc002rqd.2 - 1 597 c.42A>G c.(40-42)GTA>GTG p.V14V PRKD3_uc002rqf.1_Silent_p.V14V NM_005813 NP_005804 O94806 KPCD3_HUMAN protein kinase D3 14 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein binding|protein kinase C activity lung(2)|ovary(1)|central_nervous_system(1) 4 all_hematologic(82;0.21) CTGTGGGTAATACAGACTTCT 0.448 30 185 --- --- --- --- PASS COX7A2L 9167 broad.mit.edu 37 2 42588252 42588252 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:42588252G>T uc002rsk.2 - 1 105 c.50C>A c.(49-51)GCT>GAT p.A17D COX7A2L_uc002rsl.2_RNA NM_004718 NP_004709 O14548 COX7R_HUMAN cytochrome c oxidase subunit VIIa polypeptide 2 17 respiratory electron transport chain mitochondrial respiratory chain cytochrome-c oxidase activity|electron carrier activity 0 GGCCTCCGAAGCCCATGCTCC 0.647 4 41 --- --- --- --- PASS ABCG8 64241 broad.mit.edu 37 2 44101029 44101029 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:44101029G>T uc002rtq.2 + 9 1405 c.1315G>T c.(1315-1317)GGG>TGG p.G439W ABCG8_uc010yoa.1_Missense_Mutation_p.G438W NM_022437 NP_071882 Q9H221 ABCG8_HUMAN ATP-binding cassette sub-family G member 8 439 Extracellular (Potential).|ABC transmembrane type-2. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity skin(3)|ovary(1) 4 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TTTTGGCCATGGGAGCATCCA 0.527 281 438 --- --- --- --- PASS FBXO11 80204 broad.mit.edu 37 2 48066854 48066854 + Missense_Mutation SNP T C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:48066854T>C uc010fbl.2 - 2 149 c.35A>G c.(34-36)AAT>AGT p.N12S FBXO11_uc002rwe.2_Missense_Mutation_p.N12S|FBXO11_uc002rwf.2_Missense_Mutation_p.N12S|FBXO11_uc002rwg.1_Missense_Mutation_p.N12S NM_025133 NP_079409 Q86XK2 FBX11_HUMAN F-box only protein 11 isoform 1 96 ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|ubiquitin ligase complex protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|lung(1) 2 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) GTATGGACTATTTTGTGCACC 0.363 38 200 --- --- --- --- PASS LHCGR 3973 broad.mit.edu 37 2 48925804 48925804 + Silent SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:48925804C>A uc002rwu.3 - 9 886 c.816G>T c.(814-816)ACG>ACT p.T272T GTF2A1L_uc002rwt.2_Intron|LHCGR_uc002rwv.2_RNA NM_000233 NP_000224 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 272 Extracellular (Potential). male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity ovary(3)|lung(2)|breast(2)|skin(1) 8 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) GGTAAGTCAACGTGGCCTCCA 0.438 Familial_Male-Limited_Precocious_Puberty 61 113 --- --- --- --- PASS CCDC85A 114800 broad.mit.edu 37 2 56420411 56420411 + Missense_Mutation SNP C G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:56420411C>G uc002rzn.2 + 2 1578 c.1076C>G c.(1075-1077)CCG>CGG p.P359R NM_001080433 NP_001073902 Q96PX6 CC85A_HUMAN coiled-coil domain containing 85A 359 His-rich. breast(3)|ovary(2) 5 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) GGCACCAGCCCGGAGCACCTC 0.637 15 47 --- --- --- --- PASS APLF 200558 broad.mit.edu 37 2 68794484 68794484 + Missense_Mutation SNP A T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:68794484A>T uc002sep.2 + 9 1471 c.1298A>T c.(1297-1299)CAG>CTG p.Q433L APLF_uc002seq.1_RNA|APLF_uc002ser.1_Missense_Mutation_p.Q164L NM_173545 NP_775816 Q8IW19 APLF_HUMAN aprataxin and PNKP like factor 433 PBZ-type 2. double-strand break repair|single strand break repair cytosol|nucleus 3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding ovary(2) 2 AAGAATCCCCAGCACAAGATA 0.313 21 81 --- --- --- --- PASS CD207 50489 broad.mit.edu 37 2 71060794 71060794 + Missense_Mutation SNP T C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:71060794T>C uc002shg.2 - 3 595 c.548A>G c.(547-549)AAG>AGG p.K183R NM_015717 NP_056532 Q9UJ71 CLC4K_HUMAN CD207 antigen, langerin 183 Potential.|Extracellular (Potential). defense response to virus endocytic vesicle|integral to membrane mannose binding ovary(1)|lung(1) 2 TTTGAGCAACTTGCTCATATT 0.463 17 47 --- --- --- --- PASS CD207 50489 broad.mit.edu 37 2 71061107 71061107 + Missense_Mutation SNP G C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:71061107G>C uc002shg.2 - 3 282 c.235C>G c.(235-237)CAG>GAG p.Q79E NM_015717 NP_056532 Q9UJ71 CLC4K_HUMAN CD207 antigen, langerin 79 Extracellular (Potential). defense response to virus endocytic vesicle|integral to membrane mannose binding ovary(1)|lung(1) 2 TTCAGCAACTGGACATTGGTC 0.512 9 47 --- --- --- --- PASS VAX2 25806 broad.mit.edu 37 2 71148347 71148347 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:71148347C>A uc002shh.2 + 2 399 c.367C>A c.(367-369)CGC>AGC p.R123S NM_012476 NP_036608 Q9UIW0 VAX2_HUMAN ventral anterior homeobox 2 123 Homeobox. ectoderm development|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GGAGTTCCAGCGCTGCCAGTA 0.637 13 53 --- --- --- --- PASS ZNF638 27332 broad.mit.edu 37 2 71591167 71591167 + Missense_Mutation SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:71591167C>T uc002shx.2 + 5 1821 c.1502C>T c.(1501-1503)TCA>TTA p.S501L ZNF638_uc010fec.2_Missense_Mutation_p.S607L|ZNF638_uc010yqw.1_Missense_Mutation_p.S80L|ZNF638_uc002shw.2_Missense_Mutation_p.S501L|ZNF638_uc002shy.2_Missense_Mutation_p.S501L|ZNF638_uc002shz.2_Missense_Mutation_p.S501L|ZNF638_uc002sia.2_Missense_Mutation_p.S501L|ZNF638_uc002sib.1_Missense_Mutation_p.S501L|ZNF638_uc010fed.2_5'Flank NM_014497 NP_055312 Q14966 ZN638_HUMAN zinc finger protein 638 501 Arg-rich. RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding pancreas(2)|ovary(1)|skin(1) 4 AGATCAAGCTCAAGTCACAGA 0.463 18 175 --- --- --- --- PASS DYSF 8291 broad.mit.edu 37 2 71839822 71839822 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:71839822G>T uc002sie.2 + 39 4595 c.4219G>T c.(4219-4221)GAT>TAT p.D1407Y DYSF_uc010feg.2_Missense_Mutation_p.D1438Y|DYSF_uc010feh.2_Missense_Mutation_p.D1393Y|DYSF_uc002sig.3_Missense_Mutation_p.D1393Y|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.D1407Y|DYSF_uc010fef.2_Missense_Mutation_p.D1424Y|DYSF_uc010fei.2_Missense_Mutation_p.D1424Y|DYSF_uc010fek.2_Missense_Mutation_p.D1425Y|DYSF_uc010fej.2_Missense_Mutation_p.D1394Y|DYSF_uc010fel.2_Missense_Mutation_p.D1394Y|DYSF_uc010feo.2_Missense_Mutation_p.D1439Y|DYSF_uc010fem.2_Missense_Mutation_p.D1408Y|DYSF_uc010fen.2_Missense_Mutation_p.D1425Y|DYSF_uc002sif.2_Missense_Mutation_p.D1408Y|DYSF_uc010yqy.1_Missense_Mutation_p.D288Y|DYSF_uc010yqz.1_Missense_Mutation_p.D147Y NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 1407 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 CAAGGTCATCGATAACCGCCA 0.637 16 58 --- --- --- --- PASS RETSAT 54884 broad.mit.edu 37 2 85573109 85573109 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:85573109C>A uc002spd.2 - 6 1297 c.1106G>T c.(1105-1107)CGC>CTC p.R369L RETSAT_uc010fge.2_RNA|RETSAT_uc010ysm.1_Missense_Mutation_p.R308L|RETSAT_uc010fgf.2_Missense_Mutation_p.R160L NM_017750 NP_060220 Q6NUM9 RETST_HUMAN all-trans-13,14-dihydroretinol saturase 369 retinol metabolic process endoplasmic reticulum membrane|nuclear outer membrane all-trans-retinol 13,14-reductase activity|electron carrier activity ovary(2) 2 Vitamin A(DB00162) TGGCAGGCAGCGGGCGTTCCC 0.587 42 181 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 89292131 89292131 + RNA SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:89292131C>A uc010ytr.1 - 82 c.7075G>T uc002stl.2_Intron Parts of antibodies, mostly variable regions. CTGCTAATACCCTGACTCGCC 0.507 62 252 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 89326663 89326663 + RNA SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:89326663G>T uc010ytr.1 - 68 c.6515C>A uc002stl.2_Intron Parts of antibodies, mostly variable regions. TGGAATCACTGTGGGAGGCCA 0.483 24 111 --- --- --- --- PASS FER1L5 90342 broad.mit.edu 37 2 97365350 97365350 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:97365350C>A uc010fia.2 + 42 4755 c.4755C>A c.(4753-4755)TTC>TTA p.F1585L FER1L5_uc002sws.3_Missense_Mutation_p.F303L|FER1L5_uc002swt.3_Missense_Mutation_p.F303L|FER1L5_uc010yus.1_Missense_Mutation_p.F302L NM_001113382 NP_001106853 A0AVI2 FR1L5_HUMAN fer-1-like 5 isoform 2 1585 C2 5. integral to membrane ovary(1) 1 TCTATGACTTCGACCTATTTT 0.493 110 379 --- --- --- --- PASS TSGA10 80705 broad.mit.edu 37 2 99697854 99697854 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:99697854C>A uc002szg.3 - 9 1246 c.618G>T c.(616-618)TTG>TTT p.L206F TSGA10_uc002szh.3_Missense_Mutation_p.L206F|TSGA10_uc002szi.3_Missense_Mutation_p.L206F|TSGA10_uc010fin.1_Missense_Mutation_p.L206F|TSGA10_uc010yvn.1_Missense_Mutation_p.L206F NM_182911 NP_878915 Q9BZW7 TSG10_HUMAN testis specific, 10 206 spermatogenesis cytoplasm|nuclear membrane ovary(1)|central_nervous_system(1) 2 TGTTTTCATACAAAAGTCTGC 0.289 17 75 --- --- --- --- PASS IL18R1 8809 broad.mit.edu 37 2 102988470 102988470 + Silent SNP C T T rs140709578 TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:102988470C>T uc002tbw.3 + 4 510 c.360C>T c.(358-360)TTC>TTT p.F120F IL18R1_uc010ywb.1_Silent_p.F120F|IL18R1_uc010ywc.1_Silent_p.F120F|IL18R1_uc010ywd.1_5'UTR|IL18R1_uc010fiy.2_Silent_p.F120F NM_003855 NP_003846 Q13478 IL18R_HUMAN interleukin 18 receptor 1 precursor 120 Ig-like C2-type 1.|Extracellular (Potential). innate immune response integral to membrane|plasma membrane interleukin-1 receptor activity ovary(2)|pancreas(1) 3 ACAGCTGTTTCACTGAAAGAC 0.289 26 71 --- --- --- --- PASS RANBP2 5903 broad.mit.edu 37 2 109381368 109381368 + Missense_Mutation SNP A G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:109381368A>G uc002tem.3 + 20 4499 c.4373A>G c.(4372-4374)AAA>AGA p.K1458R NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 1458 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 GCTTCATTTAAATTTGGCCAG 0.368 34 93 --- --- --- --- PASS CNTNAP5 129684 broad.mit.edu 37 2 124999829 124999829 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:124999829G>T uc002tno.2 + 3 604 c.240G>T c.(238-240)ATG>ATT p.M80I CNTNAP5_uc010flu.2_Missense_Mutation_p.M80I NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 80 F5/8 type C.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) GGCTCCAGATGGACCTGGGAA 0.522 3 14 --- --- --- --- PASS CNTNAP5 129684 broad.mit.edu 37 2 124999830 124999830 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:124999830G>T uc002tno.2 + 3 605 c.241G>T c.(241-243)GAC>TAC p.D81Y CNTNAP5_uc010flu.2_Missense_Mutation_p.D81Y NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 81 F5/8 type C.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) GCTCCAGATGGACCTGGGAAA 0.522 3 14 --- --- --- --- PASS CNTNAP5 129684 broad.mit.edu 37 2 125405502 125405502 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:125405502C>A uc002tno.2 + 13 2405 c.2041C>A c.(2041-2043)CAC>AAC p.H681N CNTNAP5_uc010flu.2_Missense_Mutation_p.H682N NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 681 Extracellular (Potential).|Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) GGTGGCCTACCACTGCAGGAG 0.602 4 18 --- --- --- --- PASS MYO7B 4648 broad.mit.edu 37 2 128335741 128335741 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:128335741G>T uc002top.2 + 9 936 c.883G>T c.(883-885)GCC>TCC p.A295S NM_001080527 NP_001073996 Q6PIF6 MYO7B_HUMAN myosin VIIB 295 Myosin head-like. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity ovary(1)|pancreas(1) 2 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) GCTCAACGACGCCAAGGACTA 0.632 12 59 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141253223 141253223 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:141253223C>A uc002tvj.1 - 56 9917 c.8945G>T c.(8944-8946)TGC>TTC p.C2982F NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2982 Extracellular (Potential).|EGF-like 7. 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) TGTATTGATGCATTGCTGGCT 0.458 TSP Lung(27;0.18) 34 117 --- --- --- --- PASS KIF5C 3800 broad.mit.edu 37 2 149806919 149806919 + Missense_Mutation SNP G C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:149806919G>C uc010zbu.1 + 10 1279 c.911G>C c.(910-912)TGT>TCT p.C304S KIF5C_uc002tws.1_RNA NM_004522 NP_004513 O60282 KIF5C_HUMAN kinesin family member 5C 304 Kinesin-motor.|Microtubule-binding. microtubule-based movement|organelle organization cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity skin(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.108) GTCATTTGCTGTTCTCCTTCT 0.502 29 35 --- --- --- --- PASS KIF5C 3800 broad.mit.edu 37 2 149840133 149840133 + Splice_Site SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:149840133G>T uc010zbu.1 + 15 1938 c.1570_splice c.e15-1 p.T524_splice KIF5C_uc002tws.1_Splice_Site|KIF5C_uc002twt.2_Splice_Site_p.T76_splice NM_004522 NP_004513 O60282 KIF5C_HUMAN kinesin family member 5C microtubule-based movement|organelle organization cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity skin(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.108) TTGTTTTTCAGACTACATTGA 0.388 16 36 --- --- --- --- PASS RIF1 55183 broad.mit.edu 37 2 152325193 152325193 + Silent SNP A G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:152325193A>G uc002txm.2 + 33 6994 c.6864A>G c.(6862-6864)ACA>ACG p.T2288T RIF1_uc002txl.2_Silent_p.T2262T|RIF1_uc002txn.2_Silent_p.T2262T|RIF1_uc002txo.2_Silent_p.T2262T|RIF1_uc002txp.2_RNA NM_018151 NP_060621 Q5UIP0 RIF1_HUMAN RAP1 interacting factor 1 2288 Interaction with condensed chromosomes in telophase. cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1) 15 BRCA - Breast invasive adenocarcinoma(221;0.0429) CATGCCCAACAGAAAGTGTTT 0.378 56 172 --- --- --- --- PASS ACVR1C 130399 broad.mit.edu 37 2 158406731 158406731 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:158406731G>T uc002tzk.3 - 4 961 c.718C>A c.(718-720)CAG>AAG p.Q240K ACVR1C_uc002tzl.3_Missense_Mutation_p.Q160K|ACVR1C_uc010fof.2_Intron|ACVR1C_uc010foe.2_Missense_Mutation_p.Q190K NM_145259 NP_660302 Q8NER5 ACV1C_HUMAN activin A receptor, type IC isoform 1 240 Protein kinase.|Cytoplasmic (Potential). apoptosis|cell differentiation|regulation of apoptosis activin receptor complex activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity lung(3)|ovary(2)|skin(2) 7 ATGACCGTCTGGTAAATTTCT 0.428 44 186 --- --- --- --- PASS TTC21B 79809 broad.mit.edu 37 2 166770088 166770088 + Missense_Mutation SNP A G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:166770088A>G uc002udk.2 - 16 2340 c.2207T>C c.(2206-2208)CTA>CCA p.L736P NM_024753 NP_079029 Q7Z4L5 TT21B_HUMAN tetratricopeptide repeat domain 21B 736 TPR 9. cilium axoneme|cytoplasm|cytoskeleton binding ovary(2)|pancreas(2)|breast(1) 5 TTTTACCTCTAGAATATTCAT 0.303 16 82 --- --- --- --- PASS SCN9A 6335 broad.mit.edu 37 2 167085253 167085253 + Missense_Mutation SNP A T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:167085253A>T uc010fpl.2 - 22 4462 c.4121T>A c.(4120-4122)CTG>CAG p.L1374Q uc002udp.2_Intron NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 1385 III. Missing (in CIPAR; significant reduction in membrane localization of the mutant protein compared to the wild-type; complete loss of function of the sodium channel). voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) GTTCACTTTCAGGTTTTTCCA 0.398 34 244 --- --- --- --- PASS LRP2 4036 broad.mit.edu 37 2 170150710 170150710 + Silent SNP A G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:170150710A>G uc002ues.2 - 6 813 c.600T>C c.(598-600)TAT>TAC p.Y200Y LRP2_uc010zdf.1_Silent_p.Y200Y NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 200 LDL-receptor class A 5.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GGTCACAGACATAAGCACGAG 0.428 23 176 --- --- --- --- PASS CHRNA1 1134 broad.mit.edu 37 2 175624292 175624292 + Missense_Mutation SNP A T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:175624292A>T uc002ujd.2 - 2 191 c.113T>A c.(112-114)GTG>GAG p.V38E uc002uiw.2_Intron|CHRNA1_uc002uje.2_Missense_Mutation_p.V38E|CHRNA1_uc002ujf.3_Missense_Mutation_p.V38E NM_001039523 NP_001034612 P02708 ACHA_HUMAN nicotinic cholinergic receptor alpha 1 isoform a 38 Extracellular. muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity ovary(2)|central_nervous_system(1)|skin(1) 4 TGGCCGCACCACGCTGCTGTA 0.587 37 273 --- --- --- --- PASS ATF2 1386 broad.mit.edu 37 2 175939423 175939423 + Missense_Mutation SNP T A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:175939423T>A uc002ujl.2 - 14 1694 c.1432A>T c.(1432-1434)ACC>TCC p.T478S ATF2_uc010fqv.2_Missense_Mutation_p.T429S|ATF2_uc002ujv.2_Missense_Mutation_p.T225S|ATF2_uc002ujm.2_Missense_Mutation_p.T420S|ATF2_uc002ujn.2_RNA|ATF2_uc002ujo.2_Missense_Mutation_p.T117S|ATF2_uc002ujp.2_RNA|ATF2_uc002ujq.2_Missense_Mutation_p.T478S|ATF2_uc002ujr.2_RNA|ATF2_uc010fqu.2_Missense_Mutation_p.T460S|ATF2_uc002ujs.2_Missense_Mutation_p.T420S|ATF2_uc002ujt.2_RNA|ATF2_uc002uju.2_RNA|ATF2_uc002ujw.1_3'UTR|ATF2_uc002ujx.1_RNA|uc002ujk.2_5'Flank NM_001880 NP_001871 P15336 ATF2_HUMAN activating transcription factor 2 478 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|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 nucleoplasm protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding lung(1)|breast(1)|pancreas(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.125) GCCATCTGGGTGAGGACTGAA 0.507 12 39 --- --- --- --- PASS PDE11A 50940 broad.mit.edu 37 2 178494266 178494266 + Missense_Mutation SNP G C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:178494266G>C uc002ulq.2 - 20 2989 c.2671C>G c.(2671-2673)CTG>GTG p.L891V PDE11A_uc010zfd.1_Missense_Mutation_p.L82V|PDE11A_uc002ulp.2_Missense_Mutation_p.L447V|PDE11A_uc002ulr.2_Missense_Mutation_p.L641V|PDE11A_uc002uls.1_Missense_Mutation_p.L533V|PDE11A_uc002ult.1_Missense_Mutation_p.L641V|PDE11A_uc002ulu.1_Missense_Mutation_p.L533V NM_016953 NP_058649 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A isoform 4 891 Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding ovary(3)|large_intestine(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) ATCGGCTTCAGTTTCACGTTG 0.443 Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial 77 148 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179399048 179399048 + Missense_Mutation SNP G C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:179399048G>C uc010zfg.1 - 307 94814 c.94590C>G c.(94588-94590)ATC>ATG p.I31530M uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I25225M|TTN_uc010zfi.1_Missense_Mutation_p.I25158M|TTN_uc010zfj.1_Missense_Mutation_p.I25033M NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 32457 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGTCTTTCTTGATCAGGGTGT 0.468 19 152 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179449428 179449428 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:179449428G>T uc010zfg.1 - 259 57460 c.57236C>A c.(57235-57237)ACA>AAA p.T19079K uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T12774K|TTN_uc010zfi.1_Missense_Mutation_p.T12707K|TTN_uc010zfj.1_Missense_Mutation_p.T12582K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 20006 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTTTGGAGATGTGAGAGGCTC 0.433 46 373 --- --- --- --- PASS CCDC141 285025 broad.mit.edu 37 2 179730587 179730587 + Missense_Mutation SNP C G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:179730587C>G uc002unf.1 - 7 963 c.906G>C c.(904-906)GAG>GAC p.E302D NM_173648 NP_775919 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 302 Potential. protein binding ovary(7)|pancreas(2)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) TCATGCTGTCCTCCTCAAGGA 0.512 130 319 --- --- --- --- PASS CERKL 375298 broad.mit.edu 37 2 182423307 182423307 + Missense_Mutation SNP C G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:182423307C>G uc002unx.2 - 6 985 c.884G>C c.(883-885)GGC>GCC p.G295A CERKL_uc002uny.2_Missense_Mutation_p.G269A|CERKL_uc010zfm.1_Missense_Mutation_p.G251A|CERKL_uc002unz.2_Missense_Mutation_p.G17A|CERKL_uc002uoa.2_Intron|CERKL_uc002uob.2_Missense_Mutation_p.G17A|CERKL_uc002uoc.2_Intron|CERKL_uc010frk.2_RNA|CERKL_uc002uod.1_Missense_Mutation_p.G64A|CERKL_uc002uoe.2_Missense_Mutation_p.G269A NM_001030311 NP_001025482 Q49MI3 CERKL_HUMAN ceramide kinase-like isoform b 295 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus diacylglycerol kinase activity ovary(2)|kidney(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.088) TGGTATTAAGCCAAGTGGAAG 0.443 8 119 --- --- --- --- PASS ZNF804A 91752 broad.mit.edu 37 2 185802007 185802007 + Silent SNP A G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:185802007A>G uc002uph.2 + 4 2478 c.1884A>G c.(1882-1884)GAA>GAG p.E628E NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 628 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 GTTACACTGAAAATGCTGGGA 0.343 63 200 --- --- --- --- PASS COL5A2 1290 broad.mit.edu 37 2 189901512 189901512 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:189901512G>T uc002uqk.2 - 52 4218 c.3943C>A c.(3943-3945)CCT>ACT p.P1315T COL5A2_uc010frx.2_Missense_Mutation_p.P891T NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein 1315 Fibrillar collagen NC1. axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) CCTTGGTTAGGATCAATCCAG 0.338 9 50 --- --- --- --- PASS DNAH7 56171 broad.mit.edu 37 2 196728947 196728947 + Missense_Mutation SNP T C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:196728947T>C uc002utj.3 - 41 7533 c.7432A>G c.(7432-7434)ATT>GTT p.I2478V NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2478 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 GCATCTCCAATGGGACTCATG 0.438 31 107 --- --- --- --- PASS DNAH7 56171 broad.mit.edu 37 2 196756469 196756469 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:196756469C>A uc002utj.3 - 31 5057 c.4956G>T c.(4954-4956)ATG>ATT p.M1652I NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1652 AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 ACAGTTGGCCCATGGTGACAG 0.358 30 80 --- --- --- --- PASS CCDC150 284992 broad.mit.edu 37 2 197593928 197593928 + Silent SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:197593928C>T uc002utp.1 + 23 2703 c.2568C>T c.(2566-2568)GCC>GCT p.A856A CCDC150_uc010zgs.1_Silent_p.A503A|CCDC150_uc010zgt.1_Silent_p.A273A|CCDC150_uc002utr.1_Silent_p.A171A NM_001080539 NP_001074008 Q8NCX0 CC150_HUMAN coiled-coil domain containing 150 856 Potential. 0 TGAAGAAAGCCCTTGATGAAG 0.378 5 33 --- --- --- --- PASS RFTN2 130132 broad.mit.edu 37 2 198498558 198498558 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:198498558G>T uc002uuo.3 - 4 1004 c.602C>A c.(601-603)ACG>AAG p.T201K NM_144629 NP_653230 Q52LD8 RFTN2_HUMAN raftlin family member 2 201 plasma membrane 0 CCCACTTAACGTCCCTTCATT 0.413 60 295 --- --- --- --- PASS ADAM23 8745 broad.mit.edu 37 2 207460779 207460779 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:207460779G>T uc002vbq.2 + 24 2475 c.2252G>T c.(2251-2253)TGT>TTT p.C751F ADAM23_uc010ziv.1_Intron NM_003812 NP_003803 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 preproprotein 751 EGF-like.|Extracellular (Potential). cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding skin(2)|ovary(1) 3 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) TCACAGGTGTGTAGTAATGAA 0.448 12 60 --- --- --- --- PASS CPS1 1373 broad.mit.edu 37 2 211502425 211502425 + Splice_Site SNP G A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:211502425G>A uc002vee.3 + 22 2820 c.2688_splice c.e22-1 p.S896_splice CPS1_uc010fur.2_Splice_Site_p.S902_splice|CPS1_uc010fus.2_Splice_Site_p.S445_splice NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) TTAAATCCTAGTGAGTCCATG 0.408 25 120 --- --- --- --- PASS BARD1 580 broad.mit.edu 37 2 215645361 215645361 + Missense_Mutation SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:215645361C>T uc002veu.2 - 4 1372 c.1237G>A c.(1237-1239)GCA>ACA p.A413T BARD1_uc010zjm.1_Missense_Mutation_p.A269T NM_000465 NP_000456 Q99728 BARD1_HUMAN BRCA1 associated RING domain 1 413 cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding lung(2) 2 Renal(323;0.0243) Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) AGCTTCATTGCTGAGGGACTA 0.403 Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome 24 146 --- --- --- --- PASS TTLL4 9654 broad.mit.edu 37 2 219602936 219602936 + Silent SNP A C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:219602936A>C uc002viy.2 + 3 907 c.537A>C c.(535-537)ACA>ACC p.T179T TTLL4_uc010zkl.1_Silent_p.T14T|TTLL4_uc010fvx.2_Silent_p.T179T NM_014640 NP_055455 Q14679 TTLL4_HUMAN tubulin tyrosine ligase-like family, member 4 179 protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity ovary(2)|skin(1) 3 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) CCTCATCCACAGAACCATACC 0.567 72 147 --- --- --- --- PASS DNAJB2 3300 broad.mit.edu 37 2 220144589 220144589 + Missense_Mutation SNP C G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:220144589C>G uc002vkx.1 + 2 271 c.34C>G c.(34-36)CGA>GGA p.R12G DNAJB2_uc010zla.1_Missense_Mutation_p.R12G|DNAJB2_uc002vkw.1_Missense_Mutation_p.R12G|DNAJB2_uc002vky.2_5'Flank|DNAJB2_uc010zlb.1_5'Flank NM_006736 NP_006727 P25686 DNJB2_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 2 12 J. ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein inclusion body heat shock protein binding|Hsp70 protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding 0 Renal(207;0.0474) Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGACGTGCCGCGAAGTGCGTC 0.587 6 65 --- --- --- --- PASS MLPH 79083 broad.mit.edu 37 2 238461036 238461036 + Nonsense_Mutation SNP A T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:238461036A>T uc002vwt.2 + 15 1959 c.1732A>T c.(1732-1734)AGA>TGA p.R578* MLPH_uc002vws.2_Nonsense_Mutation_p.R435*|MLPH_uc002vwu.2_Nonsense_Mutation_p.R550*|MLPH_uc002vwv.2_Nonsense_Mutation_p.R458*|MLPH_uc002vww.2_Nonsense_Mutation_p.R474*|MLPH_uc002vwx.2_Nonsense_Mutation_p.R434*|MLPH_uc010fyu.2_Nonsense_Mutation_p.R330* NM_024101 NP_077006 Q9BV36 MELPH_HUMAN melanophilin isoform 1 578 metal ion binding ovary(1) 1 Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203) Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316) GCTGACACAGAGAAACCCCAA 0.458 16 79 --- --- --- --- PASS C2orf85 285093 broad.mit.edu 37 2 242815303 242815303 + Silent SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr2:242815303C>T uc010fzu.1 + 2 1619 c.1596C>T c.(1594-1596)GCC>GCT p.A532A NM_173821 NP_776182 Q14D33 CB085_HUMAN hypothetical protein LOC285093 532 integral to membrane ovary(1) 1 CTGGCCGTGCCTGCCGTAGGC 0.647 63 116 --- --- --- --- PASS BRPF1 7862 broad.mit.edu 37 3 9788954 9788954 + Missense_Mutation SNP A T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr3:9788954A>T uc003bse.2 + 14 3965 c.3566A>T c.(3565-3567)CAG>CTG p.Q1189L BRPF1_uc003bsf.2_Missense_Mutation_p.Q1195L|BRPF1_uc003bsg.2_Missense_Mutation_p.Q1188L|BRPF1_uc011ati.1_Missense_Mutation_p.Q1094L|OGG1_uc003bsh.2_5'Flank|OGG1_uc003bsi.2_5'Flank|OGG1_uc003bsj.2_5'Flank|OGG1_uc003bsk.2_5'Flank|OGG1_uc003bsl.2_5'Flank|OGG1_uc003bsm.2_5'Flank|OGG1_uc003bsn.2_5'Flank|OGG1_uc003bso.2_5'Flank NM_004634 NP_004625 P55201 BRPF1_HUMAN bromodomain and PHD finger-containing protein 1 1189 histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane DNA binding|zinc ion binding ovary(2)|central_nervous_system(1) 3 Medulloblastoma(99;0.227) AAGTCAGTACAGATCGCCTAC 0.577 69 133 --- --- --- --- PASS ALS2CL 259173 broad.mit.edu 37 3 46728560 46728560 + Silent SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr3:46728560C>A uc003cqa.1 - 5 637 c.447G>T c.(445-447)TCG>TCT p.S149S ALS2CL_uc003cqb.1_Silent_p.S149S|ALS2CL_uc003cqc.1_RNA NM_147129 NP_667340 Q60I27 AL2CL_HUMAN ALS2 C-terminal like isoform 1 149 endosome organization|regulation of Rho protein signal transduction GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) CCTGGCCCAGCGATGCGCCCA 0.682 5 7 --- --- --- --- PASS DHX30 22907 broad.mit.edu 37 3 47882519 47882519 + Missense_Mutation SNP T G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr3:47882519T>G uc003cru.2 + 7 945 c.519T>G c.(517-519)ATT>ATG p.I173M DHX30_uc003crs.2_Missense_Mutation_p.I134M|DHX30_uc003crt.2_Missense_Mutation_p.I134M|DHX30_uc010hjr.1_Missense_Mutation_p.I201M NM_138615 NP_619520 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 30 173 mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding ovary(2)|skin(2) 4 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) CAGAGAGTATTCGACCAGGGG 0.602 22 41 --- --- --- --- PASS RRP9 9136 broad.mit.edu 37 3 51970535 51970535 + Missense_Mutation SNP G A A rs146452464 byFrequency TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr3:51970535G>A uc003dbw.1 - 7 593 c.554C>T c.(553-555)CCT>CTT p.P185L NM_004704 NP_004695 O43818 U3IP2_HUMAN RNA, U3 small nucleolar interacting protein 2 185 rRNA processing nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex RNA binding breast(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724) CTTGGCTCGAGGAATCACATG 0.637 26 52 --- --- --- --- PASS CADM2 253559 broad.mit.edu 37 3 86010798 86010798 + Splice_Site SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr3:86010798G>T uc003dqj.2 + 7 1569 c.943_splice c.e7+1 p.D315_splice CADM2_uc003dqk.2_Splice_Site_p.D324_splice|CADM2_uc003dql.2_Splice_Site_p.D317_splice NM_153184 NP_694854 Q8N3J6 CADM2_HUMAN immunoglobulin superfamily, member 4D adherens junction organization|cell junction assembly integral to membrane|plasma membrane ovary(1)|lung(1)|kidney(1)|skin(1) 4 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) ATTGTGCATGGTGAGTAAATT 0.328 55 86 --- --- --- --- PASS OR5H14 403273 broad.mit.edu 37 3 97868594 97868594 + Missense_Mutation SNP G A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr3:97868594G>A uc003dsg.1 + 1 365 c.365G>A c.(364-366)CGC>CAC p.R122H NM_001005514 NP_001005514 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, 122 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 GCATATGATCGCTATGTAGCC 0.398 8 76 --- --- --- --- PASS DCBLD2 131566 broad.mit.edu 37 3 98600525 98600525 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr3:98600525C>A uc003dtd.2 - 2 655 c.292G>T c.(292-294)GTT>TTT p.V98F DCBLD2_uc003dte.2_Missense_Mutation_p.V98F|DCBLD2_uc003dtf.1_RNA NM_080927 NP_563615 Q96PD2 DCBD2_HUMAN discoidin, CUB and LCCL domain containing 2 98 Extracellular (Potential).|CUB. cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing cell surface|integral to plasma membrane ovary(2)|central_nervous_system(1) 3 CATTCACAAACAGTGCTGTTG 0.418 81 286 --- --- --- --- PASS BBX 56987 broad.mit.edu 37 3 107447613 107447613 + Missense_Mutation SNP A G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr3:107447613A>G uc010hpr.2 + 6 734 c.407A>G c.(406-408)TAT>TGT p.Y136C BBX_uc003dwk.3_Missense_Mutation_p.Y136C|BBX_uc003dwl.3_Missense_Mutation_p.Y136C|BBX_uc010hps.1_Missense_Mutation_p.Y157C|BBX_uc003dwm.3_Missense_Mutation_p.Y136C NM_001142568 NP_001136040 Q8WY36 BBX_HUMAN HMG-BOX transcription factor BBX isoform 1 136 HMG box. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(3)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(3;0.112) TATTTATAGTATAAGGATGCA 0.378 72 202 --- --- --- --- PASS MYH15 22989 broad.mit.edu 37 3 108133227 108133227 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr3:108133227C>A uc003dxa.1 - 31 4114 c.4057G>T c.(4057-4059)GAC>TAC p.D1353Y NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN myosin, heavy polypeptide 15 1353 Potential. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(5)|central_nervous_system(2) 7 CGTAGAAGGTCACAGTCACGC 0.507 25 79 --- --- --- --- PASS BTLA 151888 broad.mit.edu 37 3 112198582 112198582 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr3:112198582C>A uc003dza.3 - 2 326 c.123G>T c.(121-123)AAG>AAT p.K41N BTLA_uc003dzb.3_Missense_Mutation_p.K41N NM_181780 NP_861445 Q7Z6A9 BTLA_HUMAN B and T lymphocyte associated isoform 1 41 Extracellular (Potential). T cell costimulation receptor activity 0 Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361) CAGATTGTCTCTTTATATAAA 0.368 43 118 --- --- --- --- PASS GRAMD1C 54762 broad.mit.edu 37 3 113652396 113652396 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr3:113652396G>T uc003eaq.3 + 12 1324 c.1248G>T c.(1246-1248)TTG>TTT p.L416F GRAMD1C_uc011bil.1_RNA|GRAMD1C_uc011bim.1_RNA|GRAMD1C_uc003ear.2_Missense_Mutation_p.L249F|GRAMD1C_uc003eas.2_Missense_Mutation_p.L211F|GRAMD1C_uc003eat.2_Missense_Mutation_p.L75F NM_017577 NP_060047 Q8IYS0 GRM1C_HUMAN GRAM domain containing 1C 416 integral to membrane ovary(2)|skin(1) 3 GATTTTATTTGGTAGATTCAG 0.358 59 193 --- --- --- --- PASS GRAMD1C 54762 broad.mit.edu 37 3 113652397 113652397 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr3:113652397G>T uc003eaq.3 + 12 1325 c.1249G>T c.(1249-1251)GTA>TTA p.V417L GRAMD1C_uc011bil.1_RNA|GRAMD1C_uc011bim.1_RNA|GRAMD1C_uc003ear.2_Missense_Mutation_p.V250L|GRAMD1C_uc003eas.2_Missense_Mutation_p.V212L|GRAMD1C_uc003eat.2_Missense_Mutation_p.V76L NM_017577 NP_060047 Q8IYS0 GRM1C_HUMAN GRAM domain containing 1C 417 integral to membrane ovary(2)|skin(1) 3 ATTTTATTTGGTAGATTCAGA 0.358 59 194 --- --- --- --- PASS LSAMP 4045 broad.mit.edu 37 3 115738364 115738364 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr3:115738364G>T uc003ebt.2 - 3 1012 c.512C>A c.(511-513)ACT>AAT p.T171N LSAMP_uc011bis.1_Missense_Mutation_p.T171N NM_002338 NP_002329 Q13449 LSAMP_HUMAN limbic system-associated membrane protein 171 Ig-like C2-type 2. cell adhesion|nervous system development anchored to membrane|plasma membrane 0 all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215) GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152) TTGCTTACCAGTTGGTGTAAG 0.458 20 77 --- --- --- --- PASS IGSF11 152404 broad.mit.edu 37 3 118621725 118621725 + Missense_Mutation SNP G A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr3:118621725G>A uc003ebw.2 - 7 1185 c.938C>T c.(937-939)TCT>TTT p.S313F IGSF11_uc011biv.1_Missense_Mutation_p.S285F|IGSF11_uc003ebx.2_Missense_Mutation_p.S289F|IGSF11_uc003eby.2_Missense_Mutation_p.S312F|IGSF11_uc003ebz.2_Missense_Mutation_p.S288F|IGSF11_uc010hqs.2_Missense_Mutation_p.S312F NM_001015887 NP_001015887 Q5DX21 IGS11_HUMAN immunoglobulin superfamily, member 11 isoform b 313 Cytoplasmic (Potential). cell adhesion|regulation of growth integral to membrane|plasma membrane receptor activity 0 GGCATTGGAAGAGGTTAGTGT 0.438 45 208 --- --- --- --- PASS CASR 846 broad.mit.edu 37 3 121980430 121980430 + Missense_Mutation SNP T A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr3:121980430T>A uc003eev.3 + 4 920 c.548T>A c.(547-549)TTC>TAC p.F183Y CASR_uc003eew.3_Missense_Mutation_p.F183Y NM_000388 NP_000379 P41180 CASR_HUMAN calcium-sensing receptor precursor 183 Extracellular (Potential). anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(2)|upper_aerodigestive_tract(1) 7 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) TTCAAGTCTTTCCTCCGAACC 0.453 93 271 --- --- --- --- PASS KBTBD12 166348 broad.mit.edu 37 3 127648994 127648994 + Missense_Mutation SNP G A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr3:127648994G>A uc010hsr.2 + 3 1363 c.1360G>A c.(1360-1362)GAA>AAA p.E454K KBTBD12_uc003ejy.3_Missense_Mutation_p.E61K|KBTBD12_uc010hsq.2_Intron|KBTBD12_uc003eka.3_Missense_Mutation_p.E29K NM_207335 NP_997218 Q3ZCT8 KBTBC_HUMAN kelch domain containing 6 454 Kelch 2. ovary(1) 1 TCCTGATGAAGAACCTGATCG 0.393 9 22 --- --- --- --- PASS PIK3R4 30849 broad.mit.edu 37 3 130437364 130437364 + Missense_Mutation SNP G A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr3:130437364G>A uc003enj.2 - 8 2577 c.1996C>T c.(1996-1998)CAT>TAT p.H666Y NM_014602 NP_055417 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 666 fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1) 12 AAATTGGGATGACACAGGAAG 0.383 41 137 --- --- --- --- PASS TMEM108 66000 broad.mit.edu 37 3 133098644 133098644 + Missense_Mutation SNP A G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr3:133098644A>G uc003eph.2 + 4 363 c.89A>G c.(88-90)CAG>CGG p.Q30R TMEM108_uc003epi.2_Missense_Mutation_p.Q30R|TMEM108_uc003epj.1_Missense_Mutation_p.Q30R|TMEM108_uc003epk.2_Intron|TMEM108_uc003epm.2_5'UTR NM_023943 NP_076432 Q6UXF1 TM108_HUMAN transmembrane protein 108 precursor 30 Extracellular (Potential). integral to membrane ovary(2)|skin(2) 4 TTTGCCATCCAGGAACCATCT 0.537 165 631 --- --- --- --- PASS CP 1356 broad.mit.edu 37 3 148928125 148928125 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr3:148928125C>A uc003ewy.3 - 3 689 c.436G>T c.(436-438)GAT>TAT p.D146Y CP_uc011bnr.1_RNA|CP_uc003ewx.3_5'Flank|CP_uc003ewz.2_Missense_Mutation_p.D146Y|CP_uc010hvf.1_5'Flank NM_000096 NP_000087 P00450 CERU_HUMAN ceruloplasmin precursor 146 F5/8 type A 1.|Plastocyanin-like 1. cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity ovary(1) 1 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) ACTTTGTCATCTGCTCTTTGA 0.418 67 161 --- --- --- --- PASS GOLIM4 27333 broad.mit.edu 37 3 167750315 167750315 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr3:167750315C>A uc003ffe.2 - 9 1513 c.1169G>T c.(1168-1170)CGT>CTT p.R390L GOLIM4_uc011bpe.1_Missense_Mutation_p.R390L|GOLIM4_uc011bpf.1_Missense_Mutation_p.R362L|GOLIM4_uc011bpg.1_Missense_Mutation_p.R362L NM_014498 NP_055313 O00461 GOLI4_HUMAN golgi integral membrane protein 4 390 Glu-rich.|Lumenal (Potential). transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus breast(4)|skin(1) 5 TACCTCAGCACGCGCGTGCCC 0.483 124 741 --- --- --- --- PASS LRRIQ4 344657 broad.mit.edu 37 3 169539958 169539958 + Silent SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr3:169539958G>T uc003fgb.2 + 1 249 c.249G>T c.(247-249)CTG>CTT p.L83L NM_001080460 NP_001073929 A6NIV6 LRIQ4_HUMAN leucine-rich repeats and IQ motif containing 4 83 LRR 3. 0 AGAACAACCTGAGGAGCCTGT 0.527 363 216 --- --- --- --- PASS LRRIQ4 344657 broad.mit.edu 37 3 169548372 169548372 + Silent SNP G A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr3:169548372G>A uc003fgb.2 + 3 1287 c.1287G>A c.(1285-1287)CGG>CGA p.R429R NM_001080460 NP_001073929 A6NIV6 LRIQ4_HUMAN leucine-rich repeats and IQ motif containing 4 429 LRR 18. 0 TTGATTGCCGGCACAATTTGC 0.443 20 119 --- --- --- --- PASS GNB4 59345 broad.mit.edu 37 3 179119032 179119032 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr3:179119032G>T uc003fjv.3 - 10 1272 c.992C>A c.(991-993)TCT>TAT p.S331Y GNB4_uc003fju.3_3'UTR NM_021629 NP_067642 Q9HAV0 GBB4_HUMAN guanine nucleotide-binding protein, beta-4 331 WD 7. cellular response to glucagon stimulus|energy reserve metabolic process plasma membrane signal transducer activity skin(2) 2 all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237) ACTGTCCCAAGAGCCTGTTGC 0.398 33 142 --- --- --- --- PASS ACTL6A 86 broad.mit.edu 37 3 179292256 179292256 + Splice_Site SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr3:179292256G>T uc003fjw.2 + 5 649 c.476_splice c.e5+1 p.A159_splice ACTL6A_uc003fjx.2_Splice_Site_p.A117_splice|ACTL6A_uc003fjy.2_Splice_Site_p.A117_splice NM_004301 NP_004292 O96019 ACL6A_HUMAN actin-like 6A isoform 1 chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex ATP binding|chromatin binding ovary(1) 1 all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169) TTTTGACAGCGTATCCTTGAA 0.388 100 557 --- --- --- --- PASS ETV5 2119 broad.mit.edu 37 3 185769884 185769884 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr3:185769884C>A uc003fpz.2 - 12 1493 c.1246G>T c.(1246-1248)GCC>TCC p.A416S ETV5_uc003fpy.2_Missense_Mutation_p.A458S NM_004454 NP_004445 P41161 ETV5_HUMAN ets variant gene 5 (ets-related molecule) 416 ETS. cellular response to oxidative stress nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ovary(2)|skin(2)|breast(1) 5 all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.62e-24) TAGTTCATGGCTGGCCGGTTC 0.532 T TMPRSS2|SCL45A3 Prostate 82 111 --- --- --- --- PASS KNG1 3827 broad.mit.edu 37 3 186440291 186440291 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr3:186440291G>T uc011bsa.1 + 3 584 c.372G>T c.(370-372)CAG>CAT p.Q124H KNG1_uc003fqr.2_Missense_Mutation_p.Q124H NM_001102416 NP_001095886 P01042 KNG1_HUMAN kininogen 1 isoform 1 124 Cystatin 1.|O-glycosylated at one site only. blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation extracellular space|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding skin(1) 1 all_cancers(143;8.96e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.12e-20) GBM - Glioblastoma multiforme(93;0.0798) Ouabain(DB01092) TGGCTACCCAGACCTGCCAGA 0.493 19 35 --- --- --- --- PASS OTOP1 133060 broad.mit.edu 37 4 4198988 4198988 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr4:4198988G>T uc003ghp.1 - 5 1603 c.1573C>A c.(1573-1575)CCA>ACA p.P525T NM_177998 NP_819056 Q7RTM1 OTOP1_HUMAN otopetrin 1 525 biomineral tissue development extracellular space|integral to membrane ovary(2)|central_nervous_system(1) 3 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) ACTGGGCTTGGGCTCCCTCCC 0.537 44 72 --- --- --- --- PASS ZBTB49 166793 broad.mit.edu 37 4 4304612 4304612 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr4:4304612G>T uc003ghu.2 + 3 1224 c.1049G>T c.(1048-1050)AGC>ATC p.S350I ZBTB49_uc003ghv.2_5'UTR|ZBTB49_uc010icy.2_RNA|ZBTB49_uc010icz.2_Missense_Mutation_p.S50I NM_145291 NP_660334 Q6ZSB9 ZBT49_HUMAN zinc finger protein 509 350 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 AAAGCTAGCAGCCAAAGTGCT 0.438 35 51 --- --- --- --- PASS EVC2 132884 broad.mit.edu 37 4 5624376 5624376 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr4:5624376C>A uc003gij.2 - 14 2443 c.2389G>T c.(2389-2391)GAC>TAC p.D797Y EVC2_uc011bwb.1_Missense_Mutation_p.D237Y|EVC2_uc003gik.2_Missense_Mutation_p.D717Y NM_147127 NP_667338 Q86UK5 LBN_HUMAN limbin 797 Potential. integral to membrane large_intestine(3)|ovary(2) 5 TGGTCCCTGTCCCTCTCCTCC 0.662 18 53 --- --- --- --- PASS SLIT2 9353 broad.mit.edu 37 4 20555464 20555464 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr4:20555464C>A uc003gpr.1 + 26 2802 c.2598C>A c.(2596-2598)AAC>AAA p.N866K SLIT2_uc003gps.1_Missense_Mutation_p.N858K NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 866 LRRCT 4. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 GTGATTGTAACATGCAGTGGT 0.358 44 95 --- --- --- --- PASS KCNIP4 80333 broad.mit.edu 37 4 21305524 21305524 + Missense_Mutation SNP G C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr4:21305524G>C uc003gqf.1 - 1 6 c.6C>G c.(4-6)AAC>AAG p.N2K KCNIP4_uc003gqg.1_Intron|KCNIP4_uc003gqh.1_Intron|KCNIP4_uc003gqi.1_Intron NM_147183 NP_671712 Q6PIL6 KCIP4_HUMAN Kv channel interacting protein 4 isoform 4 Error:Variant_position_missing_in_Q6PIL6_after_alignment plasma membrane calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity 0 Breast(46;0.134) GCCCTTCCAAGTTCATGGTCA 0.433 22 42 --- --- --- --- PASS TLR1 7096 broad.mit.edu 37 4 38798565 38798565 + Nonsense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr4:38798565C>A uc003gtl.2 - 4 2162 c.1888G>T c.(1888-1890)GAA>TAA p.E630* NM_003263 NP_003254 Q15399 TLR1_HUMAN toll-like receptor 1 precursor 630 Cytoplasmic (Potential). cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex protein heterodimerization activity|transmembrane receptor activity lung(2)|skin(2)|prostate(1) 5 CTTTGGAGTTCTTCTAAGGGT 0.483 91 165 --- --- --- --- PASS SLC4A4 8671 broad.mit.edu 37 4 72121047 72121047 + Nonsense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr4:72121047G>T uc003hfy.2 + 3 301 c.184G>T c.(184-186)GAG>TAG p.E62* SLC4A4_uc010iic.2_Nonsense_Mutation_p.E62*|SLC4A4_uc010iib.2_Nonsense_Mutation_p.E62*|SLC4A4_uc003hfz.2_Nonsense_Mutation_p.E62*|SLC4A4_uc003hga.2_5'UTR NM_001098484 NP_001091954 Q9Y6R1 S4A4_HUMAN solute carrier family 4, sodium bicarbonate 62 Cytoplasmic (Potential). basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|kidney(1)|skin(1) 5 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) GAGAATCTCTGAGAACTACTC 0.448 59 116 --- --- --- --- PASS PTPN13 5783 broad.mit.edu 37 4 87622436 87622436 + Missense_Mutation SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr4:87622436C>T uc003hpz.2 + 7 1157 c.677C>T c.(676-678)CCA>CTA p.P226L PTPN13_uc003hpy.2_Missense_Mutation_p.P226L|PTPN13_uc003hqa.2_Missense_Mutation_p.P226L|PTPN13_uc003hqb.2_Missense_Mutation_p.P226L NM_080683 NP_542414 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 226 cytoplasm|cytoskeleton|plasma membrane protein binding|protein binding|protein tyrosine phosphatase activity ovary(4)|breast(1)|kidney(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) CAAAAGCCTCCACTCTCTCAT 0.338 9 28 --- --- --- --- PASS ENPEP 2028 broad.mit.edu 37 4 111470932 111470932 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr4:111470932G>T uc003iab.3 + 17 2733 c.2391G>T c.(2389-2391)GAG>GAT p.E797D NM_001977 NP_001968 Q07075 AMPE_HUMAN glutamyl aminopeptidase 797 Extracellular (Potential). cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding skin(3)|ovary(1)|breast(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) CTGGCAATGAGATTTCATGGA 0.403 47 122 --- --- --- --- PASS ALPK1 80216 broad.mit.edu 37 4 113353197 113353197 + Missense_Mutation SNP T A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr4:113353197T>A uc003iap.3 + 11 2773 c.2494T>A c.(2494-2496)TCC>ACC p.S832T ALPK1_uc003ian.3_Missense_Mutation_p.S832T|ALPK1_uc011cfx.1_Missense_Mutation_p.S754T|ALPK1_uc003iao.3_Intron|ALPK1_uc010imo.2_Missense_Mutation_p.S660T NM_025144 NP_079420 Q96QP1 ALPK1_HUMAN alpha-kinase 1 832 ATP binding|protein serine/threonine kinase activity ovary(5) 5 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) AAATCCTGACTCCAGAAAAAG 0.537 19 33 --- --- --- --- PASS ALPK1 80216 broad.mit.edu 37 4 113353198 113353198 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr4:113353198C>A uc003iap.3 + 11 2774 c.2495C>A c.(2494-2496)TCC>TAC p.S832Y ALPK1_uc003ian.3_Missense_Mutation_p.S832Y|ALPK1_uc011cfx.1_Missense_Mutation_p.S754Y|ALPK1_uc003iao.3_Intron|ALPK1_uc010imo.2_Missense_Mutation_p.S660Y NM_025144 NP_079420 Q96QP1 ALPK1_HUMAN alpha-kinase 1 832 ATP binding|protein serine/threonine kinase activity ovary(5) 5 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) AATCCTGACTCCAGAAAAAGT 0.542 19 33 --- --- --- --- PASS ANK2 287 broad.mit.edu 37 4 114120241 114120241 + Silent SNP A T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr4:114120241A>T uc003ibe.3 + 4 460 c.360A>T c.(358-360)GGA>GGT p.G120G ANK2_uc003ibd.3_Silent_p.G99G|ANK2_uc003ibf.3_Silent_p.G120G|ANK2_uc003ibc.2_Silent_p.G96G|ANK2_uc011cgb.1_Silent_p.G135G NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 120 ANK 3. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TTAAGGAAGGAGCCAATATTA 0.343 31 67 --- --- --- --- PASS BBS7 55212 broad.mit.edu 37 4 122754443 122754443 + Missense_Mutation SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr4:122754443C>T uc003ied.2 - 15 1793 c.1619G>A c.(1618-1620)TGT>TAT p.C540Y BBS7_uc003iee.1_Missense_Mutation_p.C540Y NM_176824 NP_789794 Q8IWZ6 BBS7_HUMAN Bardet-Biedl syndrome 7 protein isoform a 540 cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception BBSome|centrosome|cilium membrane protein binding ovary(1) 1 AAATGTCACACATTCTCCTGC 0.388 Bardet-Biedl_syndrome 52 84 --- --- --- --- PASS LRBA 987 broad.mit.edu 37 4 151336617 151336617 + Silent SNP T C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr4:151336617T>C uc010ipj.2 - 48 7674 c.7200A>G c.(7198-7200)TCA>TCG p.S2400S LRBA_uc010ipi.2_Intron|LRBA_uc003ils.3_Silent_p.S290S|LRBA_uc003ilt.3_Silent_p.S1048S|LRBA_uc003ilu.3_Silent_p.S2389S NM_006726 NP_006717 P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and 2400 BEACH. endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding ovary(3)|breast(3)|skin(1) 7 all_hematologic(180;0.151) CAAATTCTTCTGAGGTTTTGG 0.378 27 62 --- --- --- --- PASS NPY2R 4887 broad.mit.edu 37 4 156135714 156135714 + Missense_Mutation SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr4:156135714C>T uc003ioq.2 + 2 1118 c.623C>T c.(622-624)CCT>CTT p.P208L NPY2R_uc003ior.2_Missense_Mutation_p.P208L NM_000910 NP_000901 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 208 Extracellular (Potential). cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity lung(2)|skin(1) 3 all_hematologic(180;0.24) Renal(120;0.0854) GAAAAGTGGCCTGGCGAGGAG 0.488 34 140 --- --- --- --- PASS RXFP1 59350 broad.mit.edu 37 4 159533290 159533290 + Missense_Mutation SNP G C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr4:159533290G>C uc003ipz.2 + 7 627 c.545G>C c.(544-546)AGT>ACT p.S182T RXFP1_uc010iqj.1_Missense_Mutation_p.S11T|RXFP1_uc011cja.1_Missense_Mutation_p.S101T|RXFP1_uc010iqo.2_Missense_Mutation_p.S182T|RXFP1_uc011cjb.1_Missense_Mutation_p.S128T|RXFP1_uc010iqk.2_Missense_Mutation_p.S50T|RXFP1_uc011cjc.1_Missense_Mutation_p.S101T|RXFP1_uc011cjd.1_Missense_Mutation_p.S101T|RXFP1_uc010iql.2_Missense_Mutation_p.S50T|RXFP1_uc011cje.1_Missense_Mutation_p.S209T|RXFP1_uc010iqm.2_Missense_Mutation_p.S149T|RXFP1_uc011cjf.1_Missense_Mutation_p.S52T|RXFP1_uc010iqn.2_Missense_Mutation_p.S128T NM_021634 NP_067647 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 182 Extracellular (Potential).|LRR 2. integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding 0 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) AGGTATCTCAGTCATAACAGA 0.299 15 151 --- --- --- --- PASS ANXA10 11199 broad.mit.edu 37 4 169102890 169102890 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr4:169102890C>A uc003irm.2 + 10 926 c.781C>A c.(781-783)CAT>AAT p.H261N ANXA10_uc003irn.2_Missense_Mutation_p.H133N NM_007193 NP_009124 Q9UJ72 ANX10_HUMAN annexin A10 261 Annexin 4. calcium ion binding|calcium-dependent phospholipid binding 0 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0325) TAGTGCAATTCATGTAAGTAA 0.299 33 91 --- --- --- --- PASS ADAM29 11086 broad.mit.edu 37 4 175898963 175898963 + Missense_Mutation SNP G A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr4:175898963G>A uc003iuc.2 + 5 2957 c.2287G>A c.(2287-2289)GTG>ATG p.V763M ADAM29_uc003iud.2_Missense_Mutation_p.V763M|ADAM29_uc010irr.2_Missense_Mutation_p.V763M|ADAM29_uc011cki.1_Missense_Mutation_p.V763M NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 preproprotein 763 Cytoplasmic (Potential).|9 X 9 AA approximate repeats.|3. proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1) 16 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) TCAACCTCCTGTGACACCCTC 0.567 7 217 --- --- --- --- PASS UFSP2 55325 broad.mit.edu 37 4 186336339 186336339 + Missense_Mutation SNP T C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr4:186336339T>C uc003ixo.2 - 6 771 c.654A>G c.(652-654)ATA>ATG p.I218M UFSP2_uc003ixn.2_Missense_Mutation_p.I108M|UFSP2_uc003ixq.2_Missense_Mutation_p.I108M|UFSP2_uc003ixp.2_RNA NM_018359 NP_060829 Q9NUQ7 UFSP2_HUMAN UFM1-specific peptidase 2 218 endoplasmic reticulum|nucleus small conjugating protein-specific protease activity 0 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166) GGCCATCTGGTATTCCTGAAG 0.323 4 104 --- --- --- --- PASS TRIML2 205860 broad.mit.edu 37 4 189013004 189013004 + Silent SNP A G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr4:189013004A>G uc003izl.2 - 7 723 c.687T>C c.(685-687)GAT>GAC p.D229D TRIML2_uc003izj.1_Silent_p.D57D|TRIML2_uc003izk.1_Silent_p.D37D|TRIML2_uc011cle.1_Silent_p.D304D NM_173553 NP_775824 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 229 B30.2/SPRY. ligase activity central_nervous_system(2) 2 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) TGCCAGCCCCATCCTGCTGCC 0.532 10 143 --- --- --- --- PASS BRD9 65980 broad.mit.edu 37 5 878484 878484 + Silent SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr5:878484C>A uc003jbq.2 - 11 1424 c.1257G>T c.(1255-1257)GTG>GTT p.V419V BRD9_uc003jbl.2_Silent_p.V303V|BRD9_uc003jbm.2_RNA|BRD9_uc003jbn.2_RNA|BRD9_uc011cmb.1_Silent_p.V366V|BRD9_uc003jbo.2_Silent_p.V323V|BRD9_uc003jbp.2_Silent_p.V80V|BRD9_uc011cmc.1_RNA NM_023924 NP_076413 Q9H8M2 BRD9_HUMAN bromodomain containing 9 isoform 1 419 nucleic acid binding 0 Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185) GCGCACACTGCACGCCTGTCT 0.592 26 296 --- --- --- --- PASS TRIP13 9319 broad.mit.edu 37 5 904320 904320 + Missense_Mutation SNP T G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr5:904320T>G uc003jbr.2 + 6 703 c.593T>G c.(592-594)ATT>AGT p.I198S TRIP13_uc010ite.1_Missense_Mutation_p.I198S NM_004237 NP_004228 Q15645 PCH2_HUMAN thyroid hormone receptor interactor 13 198 double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity 0 Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165) AAATTGACAATTAGACTTTCA 0.383 123 132 --- --- --- --- PASS KIAA0947 23379 broad.mit.edu 37 5 5463893 5463893 + Silent SNP G A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr5:5463893G>A uc003jdm.3 + 13 4668 c.4446G>A c.(4444-4446)GAG>GAA p.E1482E NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN hypothetical protein LOC23379 1482 ovary(1)|central_nervous_system(1) 2 CATTTCAGGAGGCTCCATGTG 0.498 144 170 --- --- --- --- PASS FASTKD3 79072 broad.mit.edu 37 5 7867909 7867909 + Missense_Mutation SNP A C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr5:7867909A>C uc003jeb.2 - 2 425 c.288T>G c.(286-288)AAT>AAG p.N96K FASTKD3_uc011cmp.1_Intron|FASTKD3_uc003jec.2_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jee.3_5'Flank|MTRR_uc003jed.2_5'Flank|MTRR_uc003jef.3_5'Flank|MTRR_uc003jeg.3_5'Flank|MTRR_uc010ito.2_5'Flank NM_024091 NP_076996 Q14CZ7 FAKD3_HUMAN FAST kinase domains 3 96 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity ovary(2)|breast(1)|pancreas(1) 4 GACTCTCCTCATTTTTAACAT 0.413 28 167 --- --- --- --- PASS SEMA5A 9037 broad.mit.edu 37 5 9054296 9054296 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr5:9054296C>A uc003jek.2 - 19 3304 c.2592G>T c.(2590-2592)AGG>AGT p.R864S NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 864 TSP type-1 6.|Extracellular (Potential). cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 AAGAGCGGGTCCTCATATAGT 0.582 33 143 --- --- --- --- PASS CDH18 1016 broad.mit.edu 37 5 19473548 19473548 + Silent SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr5:19473548C>A uc003jgc.2 - 12 2537 c.2160G>T c.(2158-2160)CTG>CTT p.L720L CDH18_uc003jgd.2_Silent_p.L720L|CDH18_uc011cnm.1_3'UTR NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 720 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) CTGCTTCTGCCAGTCTTTGCT 0.498 33 131 --- --- --- --- PASS CDH18 1016 broad.mit.edu 37 5 19473613 19473613 + Missense_Mutation SNP G C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr5:19473613G>C uc003jgc.2 - 12 2472 c.2095C>G c.(2095-2097)CCC>GCC p.P699A CDH18_uc003jgd.2_Missense_Mutation_p.P699A|CDH18_uc011cnm.1_3'UTR NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 699 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) TGGTGTCTGGGAGTGAGCTTC 0.502 46 193 --- --- --- --- PASS ZFR 51663 broad.mit.edu 37 5 32395264 32395264 + Splice_Site SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr5:32395264C>T uc003jhr.1 - 11 2059 c.1979_splice c.e11+1 p.R660_splice MIR579_hsa-mir-579|MI0003586_5'Flank NM_016107 NP_057191 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding 0 STAD - Stomach adenocarcinoma(35;0.19) AAAGATATTACCTCATTTCCA 0.403 69 215 --- --- --- --- PASS IL7R 3575 broad.mit.edu 37 5 35867558 35867558 + Silent SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr5:35867558C>A uc003jjs.2 + 3 461 c.372C>A c.(370-372)ACC>ACA p.T124T IL7R_uc011coo.1_Silent_p.T124T|IL7R_uc011cop.1_RNA NM_002185 NP_002176 P16871 IL7RA_HUMAN interleukin 7 receptor precursor 124 Extracellular (Potential). immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity ovary(3)|breast(1)|skin(1) 5 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) TAGACCTAACCACTATAGGTA 0.343 24 86 --- --- --- --- PASS C9 735 broad.mit.edu 37 5 39306792 39306792 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr5:39306792G>T uc003jlv.3 - 9 1432 c.1343C>A c.(1342-1344)ACC>AAC p.T448N NM_001737 NP_001728 P02748 CO9_HUMAN complement component 9 precursor 448 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex 0 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) ATCAATCACGGTTCCTCGGAG 0.383 32 153 --- --- --- --- PASS CARD6 84674 broad.mit.edu 37 5 40852457 40852457 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr5:40852457G>T uc003jmg.2 + 3 1098 c.1023G>T c.(1021-1023)AGG>AGT p.R341S NM_032587 NP_115976 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 341 apoptosis|regulation of apoptosis intracellular ovary(2)|skin(2)|lung(1) 5 TGACCGCTAGGGATTCAATCC 0.453 14 50 --- --- --- --- PASS C7 730 broad.mit.edu 37 5 40979897 40979897 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr5:40979897C>A uc003jmh.2 + 17 2350 c.2236C>A c.(2236-2238)CAT>AAT p.H746N C7_uc011cpn.1_RNA NM_000587 NP_000578 P10643 CO7_HUMAN complement component 7 precursor 746 Complement control factor I module 1. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex 0 Ovarian(839;0.0112) TTGCAAGATGCATGTTCTCCA 0.453 24 86 --- --- --- --- PASS HEATR7B2 133558 broad.mit.edu 37 5 41000864 41000864 + Nonsense_Mutation SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr5:41000864C>T uc003jmj.3 - 38 4756 c.4266G>A c.(4264-4266)TGG>TGA p.W1422* HEATR7B2_uc003jmi.3_Nonsense_Mutation_p.W977* NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 1422 binding ovary(6)|central_nervous_system(2) 8 AAAAAATCTTCCACCTTCTTC 0.453 7 33 --- --- --- --- PASS HEATR7B2 133558 broad.mit.edu 37 5 41019017 41019017 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr5:41019017C>A uc003jmj.3 - 25 3035 c.2545G>T c.(2545-2547)GGC>TGC p.G849C HEATR7B2_uc003jmi.3_Missense_Mutation_p.G404C NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 849 binding ovary(6)|central_nervous_system(2) 8 TCTGTCTGGCCTTCACTTTTC 0.502 24 64 --- --- --- --- PASS HEATR7B2 133558 broad.mit.edu 37 5 41057275 41057275 + Nonsense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr5:41057275G>T uc003jmj.3 - 9 1345 c.855C>A c.(853-855)TGC>TGA p.C285* HEATR7B2_uc003jmi.3_Intron NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 285 HEAT 3. binding ovary(6)|central_nervous_system(2) 8 CTGGAGCTCTGCAGATCTGAA 0.413 13 59 --- --- --- --- PASS HCN1 348980 broad.mit.edu 37 5 45353210 45353210 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr5:45353210G>T uc003jok.2 - 5 1394 c.1369C>A c.(1369-1371)CTG>ATG p.L457M NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 457 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 ACCTCTCTCAGAGGATCATTG 0.348 32 118 --- --- --- --- PASS RASA1 5921 broad.mit.edu 37 5 86633842 86633842 + Nonsense_Mutation SNP G A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr5:86633842G>A uc003kiw.2 + 5 1069 c.951G>A c.(949-951)TGG>TGA p.W317* RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Nonsense_Mutation_p.W140*|RASA1_uc011ctv.1_Nonsense_Mutation_p.W150*|RASA1_uc011ctw.1_Nonsense_Mutation_p.W151*|RASA1_uc010jaw.2_Nonsense_Mutation_p.W140* NM_002890 NP_002881 P20936 RASA1_HUMAN RAS p21 protein activator 1 isoform 1 317 SH3. cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding upper_aerodigestive_tract(3)|ovary(1)|lung(1) 5 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) AAGATGGATGGATGTGGGTTA 0.274 39 101 --- --- --- --- PASS SNX24 28966 broad.mit.edu 37 5 122337129 122337129 + Nonsense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr5:122337129C>A uc011cwo.1 + 5 543 c.374C>A c.(373-375)TCA>TAA p.S125* SNX24_uc003ktf.2_Nonsense_Mutation_p.S125*|SNX24_uc010jcy.2_Nonsense_Mutation_p.S125* NM_014035 NP_054754 Q9Y343 SNX24_HUMAN SBBI31 protein 125 PX. cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding 0 Prostate(80;0.0387) KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137) OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139) TCTGAAGAGTCAAGGTAAGGA 0.328 17 59 --- --- --- --- PASS RAPGEF6 51735 broad.mit.edu 37 5 130834235 130834235 + Missense_Mutation SNP T C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr5:130834235T>C uc003kvn.1 - 12 1526 c.1320A>G c.(1318-1320)ATA>ATG p.I440M RAPGEF6_uc003kvp.1_Missense_Mutation_p.I490M|RAPGEF6_uc003kvo.1_Missense_Mutation_p.I440M|RAPGEF6_uc010jdi.1_Missense_Mutation_p.I440M|RAPGEF6_uc010jdj.1_Missense_Mutation_p.I440M|RAPGEF6_uc003kvq.2_Missense_Mutation_p.I157M|RAPGEF6_uc003kvr.2_Missense_Mutation_p.I440M|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Missense_Mutation_p.I440M NM_016340 NP_057424 Q8TEU7 RPGF6_HUMAN PDZ domain-containing guanine nucleotide 440 N-terminal Ras-GEF. Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding ovary(1)|lung(1)|central_nervous_system(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) GAAAATCTTCTATATAAGTTG 0.348 56 91 --- --- --- --- PASS CAMLG 819 broad.mit.edu 37 5 134076787 134076787 + Silent SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr5:134076787C>T uc003kzt.2 + 2 312 c.207C>T c.(205-207)GAC>GAT p.D69D CAMLG_uc003kzu.2_Intron NM_001745 NP_001736 P49069 CAMLG_HUMAN calcium modulating ligand 69 Cytoplasmic (Potential). defense response endoplasmic reticulum|integral to membrane 0 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Cyclosporine(DB00091) AGCAGCAGGACAGTGATAAAC 0.423 35 65 --- --- --- --- PASS HSPA9 3313 broad.mit.edu 37 5 137903390 137903390 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr5:137903390G>T uc003ldf.2 - 6 665 c.557C>A c.(556-558)GCA>GAA p.A186E HSPA9_uc011cyw.1_Missense_Mutation_p.A117E NM_004134 NP_004125 P38646 GRP75_HUMAN heat shock 70kDa protein 9 precursor 186 anti-apoptosis|protein folding cell surface|mitochondrial nucleoid ATP binding|unfolded protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) AGCATTTTTTGCTGTGTGCCC 0.388 3 56 --- --- --- --- PASS PCDHA4 56144 broad.mit.edu 37 5 140187880 140187880 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr5:140187880G>T uc003lhi.2 + 1 1209 c.1108G>T c.(1108-1110)GCC>TCC p.A370S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.A370S|PCDHA4_uc011daa.1_Missense_Mutation_p.A370S NM_018907 NP_061730 Q9UN74 PCDA4_HUMAN protocadherin alpha 4 isoform 1 precursor 370 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TACAGTCATCGCCCTGATCAG 0.493 41 88 --- --- --- --- PASS PCDHB16 57717 broad.mit.edu 37 5 140563000 140563000 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr5:140563000G>T uc003liv.2 + 1 2021 c.866G>T c.(865-867)AGT>ATT p.S289I PCDHB16_uc010jfw.1_Intron NM_020957 NP_066008 Q9NRJ7 PCDBG_HUMAN protocadherin beta 16 precursor 289 Extracellular (Potential).|Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAGGATATTAGTAAAACTTTG 0.468 38 111 --- --- --- --- PASS PCDHB14 56122 broad.mit.edu 37 5 140603567 140603567 + Missense_Mutation SNP A T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr5:140603567A>T uc003ljb.2 + 1 490 c.490A>T c.(490-492)AGC>TGC p.S164C PCDHB14_uc011dal.1_Missense_Mutation_p.S11C NM_018934 NP_061757 Q9Y5E9 PCDBE_HUMAN protocadherin beta 14 precursor 164 Cadherin 2.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGATGTCGGAAGCAACAGTCT 0.403 47 98 --- --- --- --- PASS PCDHGA7 56108 broad.mit.edu 37 5 140763975 140763975 + Silent SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr5:140763975C>A uc003lka.1 + 1 1509 c.1509C>A c.(1507-1509)TCC>TCA p.S503S 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_uc003ljz.1_Silent_p.S503S NM_018920 NP_061743 Q9Y5G6 PCDG7_HUMAN protocadherin gamma subfamily A, 7 isoform 1 503 Extracellular (Potential).|Cadherin 5. 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) CAGTGTCCTCCTATGTCTCCA 0.488 24 45 --- --- --- --- PASS GRIA1 2890 broad.mit.edu 37 5 153030074 153030074 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr5:153030074G>T uc003lva.3 + 4 1010 c.645G>T c.(643-645)CAG>CAT p.Q215H GRIA1_uc003luy.3_Missense_Mutation_p.Q215H|GRIA1_uc003luz.3_Missense_Mutation_p.Q120H|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.Q135H|GRIA1_uc011dcx.1_Missense_Mutation_p.Q146H|GRIA1_uc011dcy.1_Missense_Mutation_p.Q225H|GRIA1_uc011dcz.1_Missense_Mutation_p.Q225H|GRIA1_uc010jia.1_Missense_Mutation_p.Q195H NM_001114183 NP_001107655 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 isoform 215 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding ovary(4)|skin(2) 6 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TCTTGGGCCAGGTAGTGAAAG 0.483 32 49 --- --- --- --- PASS C5orf40 408263 broad.mit.edu 37 5 156770220 156770220 + Missense_Mutation SNP G T T rs140164881 TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr5:156770220G>T uc003lwu.2 - 2 513 c.325C>A c.(325-327)CCC>ACC p.P109T CYFIP2_uc003lwq.2_Intron|CYFIP2_uc011ddn.1_Intron|CYFIP2_uc011ddo.1_Intron|CYFIP2_uc003lwr.2_Intron|CYFIP2_uc003lws.2_Intron|CYFIP2_uc003lwt.2_Intron|CYFIP2_uc011ddp.1_Intron NM_001001343 NP_001001343 Q8TBE3 FNDC9_HUMAN hypothetical protein LOC408263 109 integral to membrane 0 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GAGATCTGGGGGTCTACCAGG 0.572 OREG0016977 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 98 --- --- --- --- PASS DSP 1832 broad.mit.edu 37 6 7584884 7584884 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr6:7584884G>T uc003mxp.1 + 24 7668 c.7389G>T c.(7387-7389)AAG>AAT p.K2463N DSP_uc003mxq.1_Missense_Mutation_p.K1864N NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 2463 Plectin 12.|Globular 2. 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) CCCTCAGGAAGCGTAGAGTGG 0.418 73 118 --- --- --- --- PASS GMNN 51053 broad.mit.edu 37 6 24786002 24786002 + Missense_Mutation SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr6:24786002C>T uc003nem.2 + 7 812 c.605C>T c.(604-606)TCT>TTT p.S202F GMNN_uc003nen.2_Missense_Mutation_p.S202F NM_015895 NP_056979 O75496 GEMI_HUMAN geminin 202 M/G1 transition of mitotic cell cycle|negative regulation of cell cycle|negative regulation of DNA replication|negative regulation of transcription, DNA-dependent cytosol|nucleoplasm histone deacetylase binding ovary(1) 1 GTATCTTCCTCTACGGATGCA 0.388 93 169 --- --- --- --- PASS HIST1H3D 8351 broad.mit.edu 37 6 26197080 26197080 + Silent SNP C G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr6:26197080C>G uc003ngv.2 - 2 796 c.399G>C c.(397-399)GGG>GGC p.G133G HIST1H2BF_uc003ngx.2_5'Flank NM_003530 NP_003521 P68431 H31_HUMAN histone cluster 1, H3d 133 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding 0 all_hematologic(11;0.196) ACGCCCTCTCCCCACGAATGC 0.502 7 110 --- --- --- --- PASS HIST1H2AL 8332 broad.mit.edu 37 6 27833365 27833365 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr6:27833365G>T uc003njw.2 + 1 259 c.233G>T c.(232-234)CGC>CTC p.R78L NM_003511 NP_003502 P0C0S8 H2A1_HUMAN histone cluster 1, H2al 78 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding 0 AAGAAGACCCGCATTATCCCG 0.662 84 151 --- --- --- --- PASS SLC44A4 80736 broad.mit.edu 37 6 31833676 31833676 + Missense_Mutation SNP T G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr6:31833676T>G uc010jti.2 - 14 1527 c.1461A>C c.(1459-1461)TTA>TTC p.L487F NEU1_uc003nxq.3_5'Flank|NEU1_uc010jtg.2_5'Flank|NEU1_uc003nxr.3_5'Flank|NEU1_uc010jth.2_5'Flank|NEU1_uc003nxs.3_5'Flank NM_025257 NP_079533 Q53GD3 CTL4_HUMAN choline transporter-like protein 4 487 Cytoplasmic (Potential). integral to membrane|plasma membrane choline transmembrane transporter activity large_intestine(2)|ovary(1)|central_nervous_system(1) 4 Choline(DB00122) AGGCAGAGATTAAGGGGAAGG 0.612 61 83 --- --- --- --- PASS TNXB 7148 broad.mit.edu 37 6 32064567 32064567 + Missense_Mutation SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr6:32064567C>T uc003nzl.2 - 3 1265 c.1063G>A c.(1063-1065)GGC>AGC p.G355S NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 355 EGF-like 7. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 ACGCAGCGGCCGTCCACGCAG 0.731 2 1 --- --- --- --- PASS GRM4 2914 broad.mit.edu 37 6 34004071 34004071 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr6:34004071C>A uc003oir.3 - 8 1986 c.1816G>T c.(1816-1818)GTG>TTG p.V606L GRM4_uc011dsn.1_Missense_Mutation_p.V559L|GRM4_uc010jvh.2_Missense_Mutation_p.V606L|GRM4_uc010jvi.2_Missense_Mutation_p.V298L|GRM4_uc003oio.2_Missense_Mutation_p.V298L|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Missense_Mutation_p.V466L|GRM4_uc003oiq.2_Missense_Mutation_p.V473L|GRM4_uc011dsm.1_Missense_Mutation_p.V437L NM_000841 NP_000832 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 precursor 606 Helical; Name=1; (Potential). activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 6 L-Glutamic Acid(DB00142) AAGGTGATCACCACGAACAAC 0.637 17 33 --- --- --- --- PASS TMEM63B 55362 broad.mit.edu 37 6 44119705 44119705 + Missense_Mutation SNP G C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr6:44119705G>C uc003owr.2 + 19 1860 c.1796G>C c.(1795-1797)TGC>TCC p.C599S TMEM63B_uc003ows.2_Missense_Mutation_p.C502S|TMEM63B_uc010jyz.2_RNA NM_018426 NP_060896 Q5T3F8 TM63B_HUMAN transmembrane protein 63B 599 integral to membrane nucleotide binding|protein binding pancreas(2)|central_nervous_system(1) 3 all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215) ATCCGGCTCTGCCTGGCGCGC 0.667 OREG0017465 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 51 --- --- --- --- PASS TFAP2D 83741 broad.mit.edu 37 6 50740556 50740556 + Silent SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr6:50740556C>A uc003paf.2 + 8 1850 c.1338C>A c.(1336-1338)GGC>GGA p.G446G TFAP2D_uc011dwt.1_RNA NM_172238 NP_758438 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 beta-like 1 446 DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|breast(1) 7 Lung NSC(77;0.0334) TGAAAGAGGGCAAAACAGAAA 0.458 12 34 --- --- --- --- PASS PKHD1 5314 broad.mit.edu 37 6 51882241 51882241 + Nonsense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr6:51882241G>T uc003pah.1 - 34 5843 c.5567C>A c.(5566-5568)TCA>TAA p.S1856* PKHD1_uc003pai.2_Nonsense_Mutation_p.S1856* NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 1856 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) TGGAAACATTGACTCTGCCCA 0.502 55 180 --- --- --- --- PASS GFRAL 389400 broad.mit.edu 37 6 55216069 55216069 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr6:55216069C>A uc003pcm.1 + 5 475 c.389C>A c.(388-390)TCC>TAC p.S130Y NM_207410 NP_997293 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like precursor 130 Extracellular (Potential). integral to membrane receptor activity ovary(1)|breast(1) 2 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) GGGATGTGGTCCTGTTTGGAA 0.443 74 310 --- --- --- --- PASS DST 667 broad.mit.edu 37 6 56434790 56434790 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr6:56434790C>A uc003pdf.2 - 48 7413 c.7385G>T c.(7384-7386)TGT>TTT p.C2462F DST_uc003pcz.3_Missense_Mutation_p.C2284F|DST_uc011dxj.1_Missense_Mutation_p.C2313F|DST_uc011dxk.1_Missense_Mutation_p.C2324F|DST_uc003pcy.3_Missense_Mutation_p.C1958F NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 4370 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CTGTTCTTGACAAGAAGTTAC 0.299 33 71 --- --- --- --- PASS FAM135A 57579 broad.mit.edu 37 6 71238128 71238128 + Missense_Mutation SNP C G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr6:71238128C>G uc003pfj.2 + 14 3881 c.3748C>G c.(3748-3750)CTG>GTG p.L1250V FAM135A_uc003pfi.2_Missense_Mutation_p.L1054V|FAM135A_uc003pfh.2_Missense_Mutation_p.L1037V|FAM135A_uc003pfl.2_Missense_Mutation_p.L917V|FAM135A_uc003pfn.2_Missense_Mutation_p.L456V|FAM135A_uc003pfo.1_Missense_Mutation_p.L621V|FAM135A_uc010kan.1_Missense_Mutation_p.L29V NM_001162529 NP_001156001 Q9P2D6 F135A_HUMAN hypothetical protein LOC57579 isoform c 1250 central_nervous_system(1) 1 TGGAGTACATCTGATTGTCTG 0.388 42 162 --- --- --- --- PASS COL12A1 1303 broad.mit.edu 37 6 75861915 75861915 + Missense_Mutation SNP T G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr6:75861915T>G uc003phs.2 - 19 3933 c.3767A>C c.(3766-3768)CAC>CCC p.H1256P COL12A1_uc003pht.2_Missense_Mutation_p.H92P NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 1256 VWFA 3. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 CTTGTCTCTGTGTGCATTTAA 0.448 21 107 --- --- --- --- PASS SNAP91 9892 broad.mit.edu 37 6 84368748 84368748 + Silent SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr6:84368748C>T uc011dze.1 - 6 833 c.516G>A c.(514-516)CAG>CAA p.Q172Q SNAP91_uc003pkb.2_Silent_p.Q137Q|SNAP91_uc003pkc.2_Silent_p.Q172Q|SNAP91_uc003pkd.2_Silent_p.Q172Q|SNAP91_uc003pka.2_Silent_p.Q172Q|SNAP91_uc011dzf.1_Silent_p.Q53Q NM_014841 NP_055656 O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa homolog 172 clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding ovary(1) 1 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) CAATTTGTCCCTGTAGTATTG 0.343 14 15 --- --- --- --- PASS MAP3K7 6885 broad.mit.edu 37 6 91263279 91263279 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr6:91263279C>A uc003pnz.1 - 7 796 c.634G>T c.(634-636)GTC>TTC p.V212F MAP3K7_uc003poa.1_Missense_Mutation_p.V212F|MAP3K7_uc003pob.1_Missense_Mutation_p.V212F|MAP3K7_uc003poc.1_Missense_Mutation_p.V212F NM_145331 NP_663304 O43318 M3K7_HUMAN mitogen-activated protein kinase kinase kinase 7 212 Protein kinase. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|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|transforming growth factor beta receptor signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1) 6 all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164) OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429) CAGCTGAAGACGTCACATTTT 0.378 43 147 --- --- --- --- PASS C6orf167 253714 broad.mit.edu 37 6 97597879 97597879 + Missense_Mutation SNP T C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr6:97597879T>C uc003ppb.2 - 24 3766 c.3500A>G c.(3499-3501)TAT>TGT p.Y1167C C6orf167_uc011eaf.1_Missense_Mutation_p.Y1127C NM_198468 NP_940870 Q6ZRQ5 MMS22_HUMAN hypothetical protein LOC253714 1167 double-strand break repair via homologous recombination|replication fork processing nuclear replication fork protein binding 0 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198) BRCA - Breast invasive adenocarcinoma(108;0.0457) CCTCATACCATAATCCTGGAT 0.403 19 81 --- --- --- --- PASS C6orf167 253714 broad.mit.edu 37 6 97715858 97715858 + Nonsense_Mutation SNP G A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr6:97715858G>A uc003ppb.2 - 8 984 c.718C>T c.(718-720)CAG>TAG p.Q240* C6orf167_uc011eaf.1_Nonsense_Mutation_p.Q240*|C6orf167_uc010kcn.1_Nonsense_Mutation_p.Q14*|C6orf167_uc010kco.1_Nonsense_Mutation_p.Q14*|C6orf167_uc003ppc.2_Nonsense_Mutation_p.Q240* NM_198468 NP_940870 Q6ZRQ5 MMS22_HUMAN hypothetical protein LOC253714 240 double-strand break repair via homologous recombination|replication fork processing nuclear replication fork protein binding 0 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198) BRCA - Breast invasive adenocarcinoma(108;0.0457) TTCATAAACTGATGACCATAT 0.303 14 50 --- --- --- --- PASS DCBLD1 285761 broad.mit.edu 37 6 117866736 117866736 + Missense_Mutation SNP G A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr6:117866736G>A uc003pxs.2 + 14 1716 c.1591G>A c.(1591-1593)GAT>AAT p.D531N GOPC_uc003pxq.1_Intron|DCBLD1_uc003pxr.1_3'UTR|DCBLD1_uc003pxt.1_Missense_Mutation_p.D186N NM_173674 NP_775945 Q8N8Z6 DCBD1_HUMAN discoidin, CUB and LCCL domain containing 1 531 Cytoplasmic (Potential). cell adhesion integral to membrane ovary(1) 1 all_cancers(87;0.171) GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125) ACAAAAGTTAGATCTCATCAC 0.428 44 143 --- --- --- --- PASS ENPP1 5167 broad.mit.edu 37 6 132189172 132189172 + Missense_Mutation SNP G C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr6:132189172G>C uc011ecf.1 + 12 1199 c.1179G>C c.(1177-1179)TTG>TTC p.L393F ENPP1_uc003qcy.2_Missense_Mutation_p.L23F NM_006208 NP_006199 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 393 Phosphodiesterase.|Extracellular (Potential). 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity upper_aerodigestive_tract(2)|ovary(2) 4 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) TCAAAGCCTTGCAGAGGGTTG 0.398 38 161 --- --- --- --- PASS TAAR1 134864 broad.mit.edu 37 6 132966668 132966668 + Missense_Mutation SNP T G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr6:132966668T>G uc003qdm.1 - 1 475 c.475A>C c.(475-477)ATC>CTC p.I159L NM_138327 NP_612200 Q96RJ0 TAAR1_HUMAN trace amine associated receptor 1 159 Extracellular (Potential). plasma membrane 0 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154) Amphetamine(DB00182) TCCAGAAAGATCATTCCAAAT 0.393 29 112 --- --- --- --- PASS VNN2 8875 broad.mit.edu 37 6 133065517 133065517 + Silent SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr6:133065517G>T uc003qdt.2 - 7 1496 c.1485C>A c.(1483-1485)ACC>ACA p.T495T VNN2_uc003qds.2_Silent_p.T204T|VNN2_uc010kgb.2_Silent_p.T274T|VNN2_uc003qdv.2_Silent_p.T442T NM_004665 NP_004656 O95498 VNN2_HUMAN vanin 2 isoform 1 precursor 495 cellular component movement|pantothenate metabolic process anchored to membrane|plasma membrane pantetheine hydrolase activity 0 OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267) CTGAATTGCTGGTCCCACATG 0.393 23 143 --- --- --- --- PASS IL20RA 53832 broad.mit.edu 37 6 137330606 137330606 + Missense_Mutation SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr6:137330606C>T uc003qhj.2 - 4 860 c.427G>A c.(427-429)GCA>ACA p.A143T IL20RA_uc011edl.1_Missense_Mutation_p.A94T|IL20RA_uc003qhk.2_Missense_Mutation_p.A32T|IL20RA_uc010kgy.1_Intron|IL20RA_uc003qhi.2_5'Flank NM_014432 NP_055247 Q9UHF4 I20RA_HUMAN interleukin 20 receptor, alpha precursor 143 Extracellular (Potential).|Fibronectin type-III 2. integral to membrane receptor activity ovary(2)|skin(2) 4 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459) GTAGTCAGTGCCACCTCTGGT 0.418 37 135 --- --- --- --- PASS CITED2 10370 broad.mit.edu 37 6 139694413 139694413 + Missense_Mutation SNP G C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr6:139694413G>C uc003qip.1 - 2 913 c.669C>G c.(667-669)ATC>ATG p.I223M NM_006079 NP_006070 Q99967 CITE2_HUMAN Cbp/p300-interacting transactivator, with 223 Asp/Glu-rich (acidic). adrenal cortex formation|anti-apoptosis|cell proliferation|determination of left/right symmetry|heart development|liver development|negative regulation of cell migration|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell cycle|positive regulation of cell-cell adhesion|positive regulation of male gonad development|positive regulation of peroxisome proliferator activated receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of organ formation|response to estrogen stimulus|response to fluid shear stress|response to hypoxia|sex determination cytoplasm|nuclear chromatin|nucleus chromatin binding|LBD domain binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity 0 Breast(32;0.226) GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134) CTTCCTCGTCGATGAAATCAG 0.453 45 134 --- --- --- --- PASS UTRN 7402 broad.mit.edu 37 6 144860477 144860477 + Silent SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr6:144860477G>T uc003qkt.2 + 44 6509 c.6417G>T c.(6415-6417)CTG>CTT p.L2139L NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 2139 muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) TCAAATGGCTGAATAGAACTG 0.348 35 125 --- --- --- --- PASS KATNA1 11104 broad.mit.edu 37 6 149916342 149916342 + Missense_Mutation SNP G A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr6:149916342G>A uc003qmr.1 - 10 1351 c.1306C>T c.(1306-1308)CGC>TGC p.R436C KATNA1_uc003qms.2_Missense_Mutation_p.R436C|KATNA1_uc003qmt.2_3'UTR NM_007044 NP_008975 O75449 KTNA1_HUMAN katanin p60 subunit A 1 436 cell division|interphase of mitotic cell cycle|mitosis microtubule|microtubule organizing center|spindle pole ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity skin(1) 1 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173) CCTTCAATGCGCCTTCTCATT 0.378 26 88 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152651009 152651009 + Missense_Mutation SNP G C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr6:152651009G>C uc010kiw.2 - 78 15413 c.14811C>G c.(14809-14811)AGC>AGG p.S4937R SYNE1_uc003qot.3_Missense_Mutation_p.S4866R|SYNE1_uc003qou.3_Missense_Mutation_p.S4937R|SYNE1_uc010kiz.2_Missense_Mutation_p.S692R NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4937 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) TGATTCTCAAGCTGGACTGGA 0.493 HNSCC(10;0.0054) 100 368 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152651010 152651010 + Missense_Mutation SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr6:152651010C>T uc010kiw.2 - 78 15412 c.14810G>A c.(14809-14811)AGC>AAC p.S4937N SYNE1_uc003qot.3_Missense_Mutation_p.S4866N|SYNE1_uc003qou.3_Missense_Mutation_p.S4937N|SYNE1_uc010kiz.2_Missense_Mutation_p.S692N NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4937 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) GATTCTCAAGCTGGACTGGAC 0.493 HNSCC(10;0.0054) 99 359 --- --- --- --- PASS MYCT1 80177 broad.mit.edu 37 6 153042970 153042970 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr6:153042970G>T uc003qpd.3 + 2 298 c.290G>T c.(289-291)AGA>ATA p.R97I MYCT1_uc010kjc.1_Intron|MYCT1_uc003qpc.3_Missense_Mutation_p.R97I NM_025107 NP_079383 Q8N699 MYCT1_HUMAN myc target 1 97 Bipartite nuclear localization signal (Potential). nucleus ovary(1) 1 Ovarian(120;0.0654) OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143) TCTCGAAGAAGAAGAGCCAGT 0.493 47 152 --- --- --- --- PASS GPR31 2853 broad.mit.edu 37 6 167570656 167570656 + Missense_Mutation SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr6:167570656C>T uc011egq.1 - 1 664 c.664G>A c.(664-666)GCA>ACA p.A222T NM_005299 NP_005290 O00270 GPR31_HUMAN G protein-coupled receptor 31 222 Helical; Name=6; (Potential). integral to plasma membrane G-protein coupled receptor activity 0 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492) GTGACCAGTGCCTGGGCCCGC 0.582 30 161 --- --- --- --- PASS TTLL2 83887 broad.mit.edu 37 6 167752259 167752259 + Nonsense_Mutation SNP C T T rs146731987 TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr6:167752259C>T uc003qvs.1 + 2 260 c.172C>T c.(172-174)CGA>TGA p.R58* TTLL2_uc011egr.1_RNA NM_031949 NP_114155 Q9BWV7 TTLL2_HUMAN tubulin tyrosine ligase-like family, member 2 58 protein modification process ATP binding|tubulin-tyrosine ligase activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(66;7.8e-06)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) CCCTCCCAGGCGAGGCCGCCC 0.458 15 41 --- --- --- --- PASS HDAC9 9734 broad.mit.edu 37 7 18688287 18688287 + Missense_Mutation SNP A C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr7:18688287A>C uc003suh.2 + 10 1480 c.1439A>C c.(1438-1440)CAG>CCG p.Q480P HDAC9_uc003sue.2_Missense_Mutation_p.Q480P|HDAC9_uc011jyd.1_Missense_Mutation_p.Q480P|HDAC9_uc003sui.2_Missense_Mutation_p.Q483P|HDAC9_uc003suj.2_Missense_Mutation_p.Q439P|HDAC9_uc011jya.1_Missense_Mutation_p.Q477P|HDAC9_uc003sua.1_Missense_Mutation_p.Q458P|HDAC9_uc011jyb.1_Missense_Mutation_p.Q436P|HDAC9_uc003sud.1_Missense_Mutation_p.Q480P|HDAC9_uc011jyc.1_Missense_Mutation_p.Q439P|HDAC9_uc003suf.1_Missense_Mutation_p.Q511P|HDAC9_uc010kud.1_Missense_Mutation_p.Q483P|HDAC9_uc011jye.1_Missense_Mutation_p.Q452P|HDAC9_uc011jyf.1_Missense_Mutation_p.Q403P|HDAC9_uc010kue.1_Missense_Mutation_p.Q223P NM_058176 NP_478056 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 isoform 1 480 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity lung(2)|central_nervous_system(2)|kidney(1) 5 all_lung(11;0.187) Valproic Acid(DB00313) CAATACCAGCAGCAGATCCAC 0.473 5 25 --- --- --- --- PASS HDAC9 9734 broad.mit.edu 37 7 18914192 18914192 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr7:18914192C>A uc003suh.2 + 21 2808 c.2767C>A c.(2767-2769)CTA>ATA p.L923I HDAC9_uc003sue.2_Missense_Mutation_p.L923I|HDAC9_uc003sui.2_Missense_Mutation_p.L926I|HDAC9_uc003suj.2_Missense_Mutation_p.L882I|HDAC9_uc003suk.2_Missense_Mutation_p.L171I NM_058176 NP_478056 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 isoform 1 923 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity lung(2)|central_nervous_system(2)|kidney(1) 5 all_lung(11;0.187) Valproic Acid(DB00313) CACCCCTCCTCTAGGAGGGTA 0.458 10 12 --- --- --- --- PASS PDE1C 5137 broad.mit.edu 37 7 31848707 31848707 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr7:31848707C>A uc003tcm.1 - 16 2298 c.1829G>T c.(1828-1830)GGT>GTT p.G610V PDE1C_uc003tcn.1_Missense_Mutation_p.G610V|PDE1C_uc003tco.1_Missense_Mutation_p.G670V|PDE1C_uc003tcr.2_Missense_Mutation_p.G610V|PDE1C_uc003tcs.2_Missense_Mutation_p.G610V NM_005020 NP_005011 Q14123 PDE1C_HUMAN phosphodiesterase 1C 610 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding skin(3)|central_nervous_system(1) 4 GBM - Glioblastoma multiforme(11;0.216) CTTATTTTTACCATCTTTGAA 0.323 8 83 --- --- --- --- PASS PDE1C 5137 broad.mit.edu 37 7 31848708 31848708 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr7:31848708C>A uc003tcm.1 - 16 2297 c.1828G>T c.(1828-1830)GGT>TGT p.G610C PDE1C_uc003tcn.1_Missense_Mutation_p.G610C|PDE1C_uc003tco.1_Missense_Mutation_p.G670C|PDE1C_uc003tcr.2_Missense_Mutation_p.G610C|PDE1C_uc003tcs.2_Missense_Mutation_p.G610C NM_005020 NP_005011 Q14123 PDE1C_HUMAN phosphodiesterase 1C 610 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding skin(3)|central_nervous_system(1) 4 GBM - Glioblastoma multiforme(11;0.216) TTATTTTTACCATCTTTGAAG 0.318 8 81 --- --- --- --- PASS ABCA13 154664 broad.mit.edu 37 7 48353926 48353926 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr7:48353926C>A uc003toq.2 + 26 9804 c.9779C>A c.(9778-9780)TCT>TAT p.S3260Y ABCA13_uc010kys.1_Missense_Mutation_p.S334Y|ABCA13_uc003tos.1_Missense_Mutation_p.S86Y NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 3260 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 CTTAGCGATTCTAATATGTTT 0.363 14 38 --- --- --- --- PASS ZNF713 349075 broad.mit.edu 37 7 56007350 56007350 + Missense_Mutation SNP C G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr7:56007350C>G uc003trc.1 + 4 982 c.944C>G c.(943-945)TCC>TGC p.S315C ZNF713_uc003tra.1_Missense_Mutation_p.S328C|MRPS17_uc003trb.2_Intron NM_182633 NP_872439 Q8N859 ZN713_HUMAN zinc finger protein 713 315 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) CAGCATTCATCCTTTACTCAA 0.403 59 221 --- --- --- --- PASS ELN 2006 broad.mit.edu 37 7 73466304 73466304 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr7:73466304G>T uc003tzw.2 + 17 1031 c.940G>T c.(940-942)GCC>TCC p.A314S RFC2_uc011kfa.1_Intron|ELN_uc003tzm.1_RNA|ELN_uc011kfe.1_Missense_Mutation_p.A283S|ELN_uc003tzn.2_Missense_Mutation_p.A314S|ELN_uc003tzz.2_Missense_Mutation_p.A278S|ELN_uc003tzo.2_Missense_Mutation_p.A300S|ELN_uc003tzp.2_Missense_Mutation_p.A270S|ELN_uc003tzq.2_Missense_Mutation_p.A197S|ELN_uc003tzr.2_RNA|ELN_uc003tzs.2_Missense_Mutation_p.A314S|ELN_uc003tzt.2_Missense_Mutation_p.A319S|ELN_uc003tzu.2_Missense_Mutation_p.A319S|ELN_uc003tzv.2_Missense_Mutation_p.A304S|ELN_uc003tzx.2_Missense_Mutation_p.A304S|ELN_uc011kff.1_Missense_Mutation_p.A314S|ELN_uc003tzy.2_Missense_Mutation_p.A309S NM_000501 NP_001075224 P15502 ELN_HUMAN elastin isoform a precursor 314 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding ovary(3)|pancreas(2) 5 Lung NSC(55;0.159) Rofecoxib(DB00533) CGCTAAGGCAGCCAAGTATGG 0.622 T PAX5 B-ALL Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome OREG0018112 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 45 --- --- --- --- PASS HGF 3082 broad.mit.edu 37 7 81355244 81355244 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr7:81355244C>A uc003uhl.2 - 9 1295 c.1130G>T c.(1129-1131)TGC>TTC p.C377F HGF_uc003uhm.2_Missense_Mutation_p.C372F NM_000601 NP_000592 P14210 HGF_HUMAN hepatocyte growth factor isoform 1 377 Kringle 3. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity ovary(2)|central_nervous_system(2) 4 AATTTGGGAGCAGTAGCCAAC 0.453 81 272 --- --- --- --- PASS CALCR 799 broad.mit.edu 37 7 93116264 93116264 + Silent SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr7:93116264C>T uc003umv.1 - 3 345 c.84G>A c.(82-84)TTG>TTA p.L28L CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Silent_p.L10L|CALCR_uc003umw.2_Silent_p.L10L|MIR489_hsa-mir-489|MI0003124_5'Flank NM_001742 NP_001733 P30988 CALCR_HUMAN calcitonin receptor isoform 2 precursor 10 activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) GAAACAGTGCCAAGCACCGGC 0.303 48 190 --- --- --- --- PASS PPP1R9A 55607 broad.mit.edu 37 7 94540608 94540608 + Missense_Mutation SNP G A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr7:94540608G>A uc003unp.2 + 2 1465 c.1183G>A c.(1183-1185)GTG>ATG p.V395M PPP1R9A_uc010lfj.2_Missense_Mutation_p.V395M|PPP1R9A_uc011kif.1_Missense_Mutation_p.V395M|PPP1R9A_uc003unq.2_Missense_Mutation_p.V395M|PPP1R9A_uc011kig.1_Missense_Mutation_p.V395M NM_017650 NP_060120 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory (inhibitor) 395 cell junction|synapse|synaptosome actin binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) TGGTTCCCATGTGTACATGCA 0.438 HNSCC(28;0.073) 18 95 --- --- --- --- PASS ACN9 57001 broad.mit.edu 37 7 96810378 96810378 + Missense_Mutation SNP G C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr7:96810378G>C uc003uoo.3 + 2 1360 c.229G>C c.(229-231)GGA>CGA p.G77R NM_020186 NP_064571 Q9NRP4 ACN9_HUMAN ACN9 homolog precursor 77 regulation of gluconeogenesis mitochondrial intermembrane space 0 all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159) AAATTCAACTGGAAAAGCATG 0.363 22 77 --- --- --- --- PASS ZNF498 221785 broad.mit.edu 37 7 99226964 99226964 + Missense_Mutation SNP G A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr7:99226964G>A uc003url.1 + 8 1283 c.956G>A c.(955-957)GGC>GAC p.G319D ZNF498_uc003urm.1_Missense_Mutation_p.G155D|ZNF498_uc010lge.1_Missense_Mutation_p.G155D|ZNF498_uc003urn.2_Intron|ZNF498_uc010lgf.1_Missense_Mutation_p.G247D|ZNF498_uc003uro.1_Missense_Mutation_p.G103D NM_145115 NP_660090 Q6NSZ9 ZN498_HUMAN zinc finger and SCAN domain containing 25 319 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166) GGCCCTGCAGGCAGTGCGCCT 0.652 37 87 --- --- --- --- PASS AP4M1 9179 broad.mit.edu 37 7 99699370 99699370 + Silent SNP G A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr7:99699370G>A uc003utb.3 + 1 241 c.33G>A c.(31-33)AAG>AAA p.K11K MCM7_uc003usv.1_5'Flank|MCM7_uc003usw.1_5'UTR|MCM7_uc003usx.1_5'UTR|AP4M1_uc011kjg.1_Silent_p.K11K|AP4M1_uc010lgl.1_Silent_p.K11K|AP4M1_uc003utc.3_Silent_p.K11K|AP4M1_uc010lgm.2_5'UTR|AP4M1_uc003utd.2_Silent_p.K11K|AP4M1_uc011kjh.1_5'Flank|AP4M1_uc003ute.3_5'Flank|AP4M1_uc003utf.3_5'Flank NM_004722 NP_004713 O00189 AP4M1_HUMAN adaptor-related protein complex 4, mu 1 subunit 11 intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|coated pit|Golgi trans cisterna transporter activity 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TGTCCTCCAAGGGGGACCCGC 0.647 8 68 --- --- --- --- PASS PIK3CG 5294 broad.mit.edu 37 7 106509321 106509321 + Missense_Mutation SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr7:106509321C>T uc003vdv.3 + 2 1400 c.1315C>T c.(1315-1317)CCA>TCA p.P439S PIK3CG_uc003vdu.2_Missense_Mutation_p.P439S|PIK3CG_uc003vdw.2_Missense_Mutation_p.P439S NM_002649 NP_002640 P48736 PK3CG_HUMAN phosphoinositide-3-kinase, catalytic, gamma 439 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1) 38 CGGTAAAGCTCCAGCACTGTC 0.512 49 152 --- --- --- --- PASS DLD 1738 broad.mit.edu 37 7 107557360 107557360 + Missense_Mutation SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr7:107557360C>T uc003vet.2 + 10 1107 c.997C>T c.(997-999)CCC>TCC p.P333S DLD_uc011kmg.1_Missense_Mutation_p.P285S|DLD_uc011kmh.1_Missense_Mutation_p.P310S|DLD_uc011kmi.1_Missense_Mutation_p.P234S NM_000108 NP_000099 P09622 DLDH_HUMAN dihydrolipoamide dehydrogenase precursor 333 branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle mitochondrial matrix dihydrolipoyl dehydrogenase activity central_nervous_system(1) 1 NADH(DB00157) TGAACTAGATCCCAGAGGTAG 0.353 50 167 --- --- --- --- PASS C7orf66 154907 broad.mit.edu 37 7 108524507 108524507 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr7:108524507C>A uc003vfo.2 - 1 131 c.83G>T c.(82-84)AGT>ATT p.S28I NM_001024607 NP_001019778 A4D0T2 CG066_HUMAN hypothetical protein LOC154907 28 Helical; (Potential). integral to membrane ovary(2) 2 TGCAAGGCAACTGAGGCTCCA 0.383 17 77 --- --- --- --- PASS SND1 27044 broad.mit.edu 37 7 127569298 127569298 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr7:127569298G>T uc003vmi.2 + 15 1811 c.1585G>T c.(1585-1587)GCT>TCT p.A529S SND1_uc010lle.2_Missense_Mutation_p.A182S NM_014390 NP_055205 Q7KZF4 SND1_HUMAN staphylococcal nuclease domain containing 1 529 TNase-like 4. gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent melanosome|nucleus|RNA-induced silencing complex nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity ovary(2)|central_nervous_system(1) 3 TCGTTCTGAAGCTGTGGTGGA 0.428 62 187 --- --- --- --- PASS FLNC 2318 broad.mit.edu 37 7 128485140 128485140 + Missense_Mutation SNP C A A rs117864464 by1000genomes TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr7:128485140C>A uc003vnz.3 + 21 3830 c.3621C>A c.(3619-3621)AAC>AAA p.N1207K FLNC_uc003voa.3_Missense_Mutation_p.N1207K NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 1207 Filamin 10. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 TCCACAACAACGCGGATGGCA 0.607 30 74 --- --- --- --- PASS NUP205 23165 broad.mit.edu 37 7 135279324 135279324 + Missense_Mutation SNP A T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr7:135279324A>T uc003vsw.2 + 13 1891 c.1860A>T c.(1858-1860)GAA>GAT p.E620D NM_015135 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 620 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 CACTCTGTGAACACCCTCAGT 0.428 49 115 --- --- --- --- PASS CHRM2 1129 broad.mit.edu 37 7 136700605 136700605 + Silent SNP C G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr7:136700605C>G uc003vtf.1 + 4 1616 c.993C>G c.(991-993)ACC>ACG p.T331T CHRM2_uc003vtg.1_Silent_p.T331T|CHRM2_uc003vtj.1_Silent_p.T331T|CHRM2_uc003vtk.1_Silent_p.T331T|CHRM2_uc003vtl.1_Silent_p.T331T|CHRM2_uc003vtm.1_Silent_p.T331T|CHRM2_uc003vti.1_Silent_p.T331T|CHRM2_uc003vto.1_Silent_p.T331T|CHRM2_uc003vtn.1_Silent_p.T331T|uc003vtp.1_Intron NM_001006630 NP_001006631 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 331 Cytoplasmic (By similarity). activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding ovary(4)|central_nervous_system(1) 5 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) GCACCAAGACCCCAAAAAGTG 0.453 35 102 --- --- --- --- PASS LUC7L2 51631 broad.mit.edu 37 7 139026191 139026191 + Missense_Mutation SNP C G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr7:139026191C>G uc011kqt.1 + 1 295 c.61C>G c.(61-63)CTG>GTG p.L21V LUC7L2_uc011kqs.1_Intron|C7orf55_uc003vuw.3_Missense_Mutation_p.L21V NM_016019 NP_057103 Q9Y383 LC7L2_HUMAN LUC7-like 2 Error:Variant_position_missing_in_Q9Y383_after_alignment enzyme binding|metal ion binding 0 Melanoma(164;0.242) GTTGCGCTACCTGAGCGCGGC 0.652 OREG0018357 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 71 --- --- --- --- PASS RAB19 401409 broad.mit.edu 37 7 140125917 140125917 + Missense_Mutation SNP G C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr7:140125917G>C uc010lni.2 + 4 819 c.621G>C c.(619-621)CAG>CAC p.Q207H RAB19_uc011krc.1_Missense_Mutation_p.Q207H NM_001008749 NP_001008749 A4D1S5 RAB19_HUMAN RAB19, member RAS oncogene family 207 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding 0 Melanoma(164;0.0142) TTATGGCCCAGGGTCCAAGTG 0.577 33 86 --- --- --- --- PASS FAM131B 9715 broad.mit.edu 37 7 143054027 143054027 + Missense_Mutation SNP T A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr7:143054027T>A uc003wct.2 - 6 2321 c.615A>T c.(613-615)GAA>GAT p.E205D FAM131B_uc010loz.2_Missense_Mutation_p.E173D|FAM131B_uc003wcu.3_Missense_Mutation_p.E205D|FAM131B_uc010lpa.2_Missense_Mutation_p.E233D NM_014690 NP_055505 Q86XD5 F131B_HUMAN hypothetical protein LOC9715 isoform b 205 0 Melanoma(164;0.205) GATCGCTGGCTTCCCAGGCAT 0.552 32 64 --- --- --- --- PASS EPHA1 2041 broad.mit.edu 37 7 143098452 143098452 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr7:143098452C>A uc003wcz.2 - 3 484 c.397G>T c.(397-399)GTG>TTG p.V133L NM_005232 NP_005223 P21709 EPHA1_HUMAN ephrin receptor EphA1 precursor 133 Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity ovary(3)|lung(1)|breast(1) 5 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) TGAATGCCCACATCCTGGTCA 0.607 102 179 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 7 148964026 148964026 + RNA SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr7:148964026G>T uc003wfr.3 + 3 c.700G>T Homo sapiens cDNA FLJ36716 fis, clone UTERU2010651. ACGAGACGCTGGTCTCCCTGG 0.562 52 139 --- --- --- --- PASS ZNF777 27153 broad.mit.edu 37 7 149129236 149129236 + Silent SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr7:149129236C>A uc003wfv.2 - 6 2290 c.2127G>T c.(2125-2127)CTG>CTT p.L709L NM_015694 NP_056509 Q9ULD5 ZN777_HUMAN zinc finger protein 777 709 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) GGTGGCGCAGCAGGTGCGAGG 0.637 35 75 --- --- --- --- PASS ZNF746 155061 broad.mit.edu 37 7 149174139 149174139 + Splice_Site SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr7:149174139C>A uc003wfw.2 - 6 984 c.713_splice c.e6-1 p.G238_splice ZNF746_uc010lpi.2_Splice_Site_p.G238_splice NM_152557 NP_689770 Q6NUN9 ZN746_HUMAN zinc finger protein 746 isoform 2 negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent cytoplasm|nucleus transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding ovary(2)|breast(1) 3 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) GAATGGACACCTGCGGTAAGG 0.617 21 43 --- --- --- --- PASS TNKS 8658 broad.mit.edu 37 8 9592555 9592555 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr8:9592555G>T uc003wss.2 + 16 2499 c.2494G>T c.(2494-2496)GAC>TAC p.D832Y TNKS_uc011kww.1_Missense_Mutation_p.D595Y|TNKS_uc010lrt.1_RNA NM_003747 NP_003738 O95271 TNKS1_HUMAN tankyrase, TRF1-interacting ankyrin-related 832 mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding lung(4)|ovary(2)|kidney(1) 7 COAD - Colon adenocarcinoma(149;0.0467) CAACTGCAGAGACACCCAGGG 0.542 35 94 --- --- --- --- PASS SOX7 83595 broad.mit.edu 37 8 10690487 10690487 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr8:10690487C>A uc011kwz.1 - 3 170 c.137G>T c.(136-138)GGG>GTG p.G46V PINX1_uc003wth.2_Missense_Mutation_p.G46V|PINX1_uc003wti.2_Missense_Mutation_p.G46V NM_031439 NP_113627 Q9BT81 SOX7_HUMAN SRY-box 7 Error:Variant_position_missing_in_Q9BT81_after_alignment endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway cytoplasm|nucleus transcription regulatory region DNA binding breast(1) 1 COAD - Colon adenocarcinoma(149;0.0732) CTCCTGAGCCCCTAAACCCTG 0.463 7 13 --- --- --- --- PASS SOX7 83595 broad.mit.edu 37 8 10690488 10690488 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr8:10690488C>A uc011kwz.1 - 3 169 c.136G>T c.(136-138)GGG>TGG p.G46W PINX1_uc003wth.2_Missense_Mutation_p.G46W|PINX1_uc003wti.2_Missense_Mutation_p.G46W NM_031439 NP_113627 Q9BT81 SOX7_HUMAN SRY-box 7 Error:Variant_position_missing_in_Q9BT81_after_alignment endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway cytoplasm|nucleus transcription regulatory region DNA binding breast(1) 1 COAD - Colon adenocarcinoma(149;0.0732) TCCTGAGCCCCTAAACCCTGT 0.458 7 13 --- --- --- --- PASS EFHA2 286097 broad.mit.edu 37 8 16962001 16962001 + Splice_Site SNP G A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr8:16962001G>A uc003wxd.2 + 10 1127 c.1085_splice c.e10+1 p.R362_splice NM_181723 NP_859074 Q86XE3 EFHA2_HUMAN EF-hand domain family, member A2 integral to membrane calcium ion binding skin(1) 1 Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239) ATTTTTATAGGTGAGCttatt 0.308 19 50 --- --- --- --- PASS STC1 6781 broad.mit.edu 37 8 23708999 23708999 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr8:23708999C>A uc003xdw.1 - 3 591 c.307G>T c.(307-309)GTC>TTC p.V103F NM_003155 NP_003146 P52823 STC1_HUMAN stanniocalcin 1 precursor 103 cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis hormone activity skin(3)|upper_aerodigestive_tract(1) 4 Prostate(55;0.055)|Breast(100;0.116) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) TTGGAGGTGACCCCGTTGGCG 0.512 29 85 --- --- --- --- PASS NEFM 4741 broad.mit.edu 37 8 24771526 24771526 + Missense_Mutation SNP A T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr8:24771526A>T uc003xed.3 + 1 253 c.220A>T c.(220-222)AGC>TGC p.S74C NEFM_uc011lac.1_Missense_Mutation_p.S74C|NEFM_uc010lue.2_5'Flank|uc010luc.1_3'UTR NM_005382 NP_005373 P07197 NFM_HUMAN neurofilament, medium polypeptide 150kDa isoform 74 Head. neurofilament protein binding|structural constituent of cytoskeleton breast(1) 1 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) CGCCGAGAGCAGCCTTGACTT 0.682 17 15 --- --- --- --- PASS WRN 7486 broad.mit.edu 37 8 30999085 30999085 + Missense_Mutation SNP A G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr8:30999085A>G uc003xio.3 + 25 3895 c.3107A>G c.(3106-3108)AAA>AGA p.K1036R WRN_uc010lvk.2_Missense_Mutation_p.K503R NM_000553 NP_000544 Q14191 WRN_HUMAN Werner syndrome protein 1036 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 7 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) CGGTATAACAAATTTATGAAG 0.408 Mis|N|F|S osteosarcoma|meningioma|others Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Werner_syndrome 36 151 --- --- --- --- PASS UNC5D 137970 broad.mit.edu 37 8 35579763 35579763 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr8:35579763G>T uc003xjr.1 + 9 1481 c.1153G>T c.(1153-1155)GGC>TGC p.G385C UNC5D_uc003xjs.1_Missense_Mutation_p.G380C|UNC5D_uc003xju.1_5'Flank|UNC5D_uc003xjt.1_Missense_Mutation_p.G143C NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 385 Helical; (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) TTTGTACTCGGGCTTGGGTGC 0.522 81 252 --- --- --- --- PASS ADAM18 8749 broad.mit.edu 37 8 39521396 39521396 + Missense_Mutation SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr8:39521396C>T uc003xni.2 + 13 1313 c.1313C>T c.(1312-1314)ACA>ATA p.T438I ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Missense_Mutation_p.T414I NM_014237 NP_055052 Q9Y3Q7 ADA18_HUMAN a disintegrin and metalloprotease domain 18 438 Disintegrin.|Extracellular (Potential). cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1) 6 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) CCATGTTGTACATCAAAGTGT 0.328 29 104 --- --- --- --- PASS PXDNL 137902 broad.mit.edu 37 8 52323863 52323863 + Missense_Mutation SNP T A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr8:52323863T>A uc003xqu.3 - 16 2110 c.2009A>T c.(2008-2010)CAG>CTG p.Q670L PXDNL_uc003xqt.3_5'Flank NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 670 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CCGTATCAGCTGCAGCGTGTG 0.522 8 11 --- --- --- --- PASS PCMTD1 115294 broad.mit.edu 37 8 52733171 52733171 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr8:52733171C>A uc003xqx.3 - 6 1155 c.814G>T c.(814-816)GCT>TCT p.A272S PCMTD1_uc011ldm.1_Missense_Mutation_p.A142S|PCMTD1_uc003xqw.3_Missense_Mutation_p.A272S|PCMTD1_uc011ldn.1_Missense_Mutation_p.A84S|PCMTD1_uc010lya.2_Missense_Mutation_p.A196S NM_052937 NP_443169 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) 272 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity 0 Lung NSC(129;0.0795)|all_lung(136;0.144) TTGGGTGGAGCCCTTTGAGGA 0.403 10 383 --- --- --- --- PASS TCEA1 6917 broad.mit.edu 37 8 54891624 54891624 + Silent SNP T A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr8:54891624T>A uc003xru.2 - 8 1109 c.786A>T c.(784-786)ACA>ACT p.T262T TCEA1_uc003xrv.2_Silent_p.T241T|TCEA1_uc011ldw.1_Silent_p.T78T|TCEA1_uc010lyg.2_RNA NM_006756 NP_006747 P23193 TCEA1_HUMAN transcription elongation factor A 1 isoform 1 262 TFIIS-type. positive regulation of viral transcription|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction nucleoplasm DNA binding|translation elongation factor activity|zinc ion binding 0 Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699) ATTTGCCACATGTGAACAAGT 0.383 T PLAG1 salivary adenoma 38 91 --- --- --- --- PASS FAM110B 90362 broad.mit.edu 37 8 59059414 59059414 + Missense_Mutation SNP G C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr8:59059414G>C uc003xtj.1 + 5 1505 c.625G>C c.(625-627)GTG>CTG p.V209L NM_147189 NP_671722 Q8TC76 F110B_HUMAN hypothetical protein LOC90362 209 microtubule organizing center|mitochondrion|nucleus large_intestine(1) 1 all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355) GGTGACCAGCGTGAAGCCCCT 0.657 37 120 --- --- --- --- PASS COPS5 10987 broad.mit.edu 37 8 67971611 67971611 + Silent SNP C G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr8:67971611C>G uc003xxe.2 - 2 544 c.213G>C c.(211-213)TCG>TCC p.S71S COPS5_uc003xxd.2_Silent_p.S7S|COPS5_uc003xxf.2_Silent_p.S116S|COPS5_uc010lyu.1_5'Flank|COPS5_uc010lyv.1_Silent_p.S71S NM_006837 NP_006828 Q92905 CSN5_HUMAN COP9 signalosome subunit 5 71 MPN. cullin deneddylation|transcription from RNA polymerase II promoter eukaryotic translation initiation factor 3 complex|signalosome metal ion binding|metallopeptidase activity|protein binding|transcription coactivator activity|translation initiation factor activity ovary(1)|skin(1) 2 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153) AGTTGCCTCCCGATCTGGCAT 0.428 73 203 --- --- --- --- PASS TRAM1 23471 broad.mit.edu 37 8 71520391 71520391 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr8:71520391C>A uc003xyo.1 - 1 214 c.44G>T c.(43-45)AGC>ATC p.S15I TRAM1_uc011lfc.1_Intron NM_014294 NP_055109 Q15629 TRAM1_HUMAN translocation associated membrane protein 1 15 Cytoplasmic (Potential). cotranslational protein targeting to membrane|transmembrane transport endoplasmic reticulum membrane|integral to membrane protein binding|receptor activity ovary(1) 1 Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509) GAATTCGTGGCTCAGCACTGG 0.647 36 95 --- --- --- --- PASS KIAA1429 25962 broad.mit.edu 37 8 95511670 95511670 + Nonsense_Mutation SNP T A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr8:95511670T>A uc003ygo.1 - 17 4175 c.4162A>T c.(4162-4164)AAG>TAG p.K1388* KIAA1429_uc010maz.1_Intron NM_015496 NP_056311 Q69YN4 VIR_HUMAN hypothetical protein LOC25962 isoform 1 1388 mRNA processing|RNA splicing nucleus ovary(1)|skin(1) 2 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) CCTGTGTCCTTACTAAATGTG 0.269 17 46 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113275906 113275906 + Missense_Mutation SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr8:113275906C>T uc003ynu.2 - 61 9983 c.9824G>A c.(9823-9825)GGG>GAG p.G3275E CSMD3_uc003yns.2_Missense_Mutation_p.G2477E|CSMD3_uc003ynt.2_Missense_Mutation_p.G3235E|CSMD3_uc011lhx.1_Missense_Mutation_p.G3106E NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3275 Sushi 25.|Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 GGTACCATTCCCTACACAGGT 0.408 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 21 70 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113657367 113657367 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr8:113657367G>T uc003ynu.2 - 20 3440 c.3281C>A c.(3280-3282)ACA>AAA p.T1094K CSMD3_uc003yns.2_Missense_Mutation_p.T366K|CSMD3_uc003ynt.2_Missense_Mutation_p.T1054K|CSMD3_uc011lhx.1_Missense_Mutation_p.T990K NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1094 Extracellular (Potential).|CUB 6. 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 AACAGTCCATGTACAATTCAG 0.353 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 26 88 --- --- --- --- PASS TG 7038 broad.mit.edu 37 8 133899310 133899310 + Missense_Mutation SNP C G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr8:133899310C>G uc003ytw.2 + 9 1734 c.1693C>G c.(1693-1695)CTC>GTC p.L565V NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 565 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CCAAAATGCCCTCAAATTCCT 0.448 55 170 --- --- --- --- PASS PLEC 5339 broad.mit.edu 37 8 144996487 144996487 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr8:144996487C>A uc003zaf.1 - 32 8083 c.7913G>T c.(7912-7914)AGC>ATC p.S2638I PLEC_uc003zab.1_Missense_Mutation_p.S2501I|PLEC_uc003zac.1_Missense_Mutation_p.S2505I|PLEC_uc003zad.2_Missense_Mutation_p.S2501I|PLEC_uc003zae.1_Missense_Mutation_p.S2469I|PLEC_uc003zag.1_Missense_Mutation_p.S2479I|PLEC_uc003zah.2_Missense_Mutation_p.S2487I|PLEC_uc003zaj.2_Missense_Mutation_p.S2528I NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 2638 Central fibrous rod domain.|Potential. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 CTGTAGCAGGCTGTCCTTTTC 0.592 30 59 --- --- --- --- PASS GPR172A 79581 broad.mit.edu 37 8 145584541 145584541 + Missense_Mutation SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr8:145584541C>T uc003zcc.1 + 5 1361 c.1204C>T c.(1204-1206)CGG>TGG p.R402W FBXL6_uc003zbz.2_5'Flank|FBXL6_uc003zca.2_5'Flank|FBXL6_uc003zcb.2_5'Flank|FBXL6_uc010mfx.2_5'Flank|GPR172A_uc003zcd.1_Missense_Mutation_p.R402W|GPR172A_uc003zce.1_Missense_Mutation_p.R402W|GPR172A_uc010mfy.1_Missense_Mutation_p.R402W|GPR172A_uc003zcf.1_Missense_Mutation_p.R402W|GPR172A_uc011llc.1_Missense_Mutation_p.R314W NM_024531 NP_078807 Q9HAB3 RFT3_HUMAN G protein-coupled receptor 172A precursor 402 integral to plasma membrane receptor activity|riboflavin transporter activity 0 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055) TGGCGGGGGCCGGCCGGCATT 0.657 18 37 --- --- --- --- PASS SLC39A4 55630 broad.mit.edu 37 8 145640760 145640760 + Missense_Mutation SNP G T T rs141890870 byFrequency TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr8:145640760G>T uc003zcq.2 - 3 618 c.518C>A c.(517-519)GCG>GAG p.A173E SLC39A4_uc003zcm.1_5'Flank|SLC39A4_uc003zcn.2_5'Flank|SLC39A4_uc003zco.2_Splice_Site|SLC39A4_uc003zcp.2_Missense_Mutation_p.A148E NM_130849 NP_570901 Q6P5W5 S39A4_HUMAN solute carrier family 39 (zinc transporter), 173 Extracellular (Potential). cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane zinc ion transmembrane transporter activity 0 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055) CGGAGCCCCCGCCCCCACCGC 0.682 6 16 --- --- --- --- PASS KIAA1432 57589 broad.mit.edu 37 9 5763163 5763163 + Silent SNP A G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr9:5763163A>G uc003zji.2 + 18 1992 c.1899A>G c.(1897-1899)GTA>GTG p.V633V KIAA1432_uc003zjh.2_Silent_p.V633V|KIAA1432_uc003zjl.3_Silent_p.V596V|KIAA1432_uc003zjj.1_Silent_p.V175V NM_020829 NP_065880 Q4ADV7 RIC1_HUMAN connexin 43-interacting protein 150 isoform a 712 integral to membrane 0 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) CTCCTGTTGTACTAGCCCAGT 0.468 40 123 --- --- --- --- PASS ACER2 340485 broad.mit.edu 37 9 19446415 19446415 + Missense_Mutation SNP T A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr9:19446415T>A uc003zny.1 + 5 798 c.640T>A c.(640-642)TGG>AGG p.W214R ACER2_uc003znx.1_RNA|ACER2_uc003znz.1_Missense_Mutation_p.W165R NM_001010887 NP_001010887 Q5QJU3 ACER2_HUMAN alkaline ceramidase 2 214 Helical; (Potential). ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process integral to Golgi membrane ceramidase activity haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 GCACTGCATGTGGTAAGCCCC 0.602 65 174 --- --- --- --- PASS C9orf131 138724 broad.mit.edu 37 9 35045314 35045314 + Missense_Mutation SNP C G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr9:35045314C>G uc003zvw.2 + 2 2717 c.2688C>G c.(2686-2688)AGC>AGG p.S896R C9orf131_uc003zvu.2_Missense_Mutation_p.S848R|C9orf131_uc003zvv.2_Missense_Mutation_p.S823R|C9orf131_uc003zvx.2_Missense_Mutation_p.S861R NM_203299 NP_976044 Q5VYM1 CI131_HUMAN hypothetical protein LOC138724 isoform A 896 0 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) AGATGGTGAGCCAGGTCCCAT 0.552 118 379 --- --- --- --- PASS PIGO 84720 broad.mit.edu 37 9 35095564 35095564 + Splice_Site SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr9:35095564C>A uc003zwd.2 - 2 396 c.0_splice c.e2-1 PIGO_uc003zwc.1_Translation_Start_Site|PIGO_uc003zwe.2_Splice_Site|PIGO_uc003zwf.2_Splice_Site|PIGO_uc003zwg.1_Splice_Site NM_032634 NP_116023 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity large_intestine(1)|ovary(1)|skin(1) 3 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) TTTCTGCATCCTGATAGGGGT 0.527 13 41 --- --- --- --- PASS FGD3 89846 broad.mit.edu 37 9 95797692 95797692 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr9:95797692G>T uc004asw.2 + 18 2627 c.1999G>T c.(1999-2001)GAC>TAC p.D667Y FGD3_uc004asx.2_Missense_Mutation_p.D666Y|FGD3_uc004asz.2_Missense_Mutation_p.D667Y|FGD3_uc011luc.1_Missense_Mutation_p.D270Y NM_001083536 NP_001077005 Q5JSP0 FGD3_HUMAN FYVE, RhoGEF and PH domain containing 3 667 PH 2. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(1)|breast(1) 2 GGAGAGGCTGGACTCGGGGCA 0.657 9 11 --- --- --- --- PASS MUSK 4593 broad.mit.edu 37 9 113547183 113547183 + Silent SNP A G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr9:113547183A>G uc004bey.2 + 11 1571 c.1473A>G c.(1471-1473)ACA>ACG p.T491T MUSK_uc004bez.1_Silent_p.T71T NM_005592 NP_005583 O15146 MUSK_HUMAN skeletal muscle receptor tyrosine kinase 491 Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(3)|ovary(2)|central_nervous_system(1) 6 TCTCACCTACATACTCCATGA 0.428 62 127 --- --- --- --- PASS UGCG 7357 broad.mit.edu 37 9 114685132 114685132 + Missense_Mutation SNP G C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr9:114685132G>C uc004bft.2 + 3 534 c.244G>C c.(244-246)GAA>CAA p.E82Q NM_003358 NP_003349 Q16739 CEGT_HUMAN ceramide glucosyltransferase 82 Cytoplasmic (Potential). epidermis development|glucosylceramide biosynthetic process Golgi membrane|integral to membrane|membrane fraction ceramide glucosyltransferase activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(323;0.0433) Miglustat(DB00419) TGACTAGTATGAAGTGCTCCT 0.313 28 68 --- --- --- --- PASS ROD1 9991 broad.mit.edu 37 9 115038169 115038169 + Silent SNP T C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr9:115038169T>C uc004bfw.2 - 4 430 c.243A>G c.(241-243)CCA>CCG p.P81P ROD1_uc004bfv.2_Silent_p.P87P|ROD1_uc004bfx.2_Silent_p.P84P|ROD1_uc011lwu.1_Silent_p.P53P|ROD1_uc004bfy.2_Intron|ROD1_uc004bfz.2_Silent_p.P53P NM_005156 NP_005147 O95758 ROD1_HUMAN ROD1 regulator of differentiation 1 isoform 1 81 RRM 1. anatomical structure morphogenesis|mRNA processing nucleus nucleotide binding|RNA binding skin(1) 1 CTTTGCCAAATGGTAGACCTA 0.323 49 93 --- --- --- --- PASS ASTN2 23245 broad.mit.edu 37 9 119202971 119202971 + Silent SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr9:119202971C>T uc004bjs.1 - 22 3800 c.3699G>A c.(3697-3699)CTG>CTA p.L1233L ASTN2_uc004bjr.1_Silent_p.L1229L|ASTN2_uc004bjt.1_Silent_p.L1182L|ASTN2_uc004bjp.1_Silent_p.L326L|ASTN2_uc004bjq.1_Silent_p.L285L|ASTN2_uc011lxr.1_Silent_p.L285L|ASTN2_uc011lxs.1_Silent_p.L285L|ASTN2_uc011lxt.1_Silent_p.L285L|ASTN2_uc004bjo.1_Silent_p.L14L NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 1233 Extracellular (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 GGACTCGGAACAGCATCGAGG 0.498 54 93 --- --- --- --- PASS ASTN2 23245 broad.mit.edu 37 9 119738430 119738430 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr9:119738430G>T uc004bjs.1 - 9 1815 c.1714C>A c.(1714-1716)CTG>ATG p.L572M ASTN2_uc004bjr.1_Missense_Mutation_p.L572M|ASTN2_uc004bjt.1_Missense_Mutation_p.L521M NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 572 Extracellular (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 CCTGTCACCAGATCATAGCCC 0.488 22 39 --- --- --- --- PASS OR1K1 392392 broad.mit.edu 37 9 125563091 125563091 + Silent SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr9:125563091C>A uc011lze.1 + 1 690 c.690C>A c.(688-690)CCC>CCA p.P230P NM_080859 NP_543135 Q8NGR3 OR1K1_HUMAN olfactory receptor, family 1, subfamily K, 230 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 TCCAGCTGCCCTCAGCCTCTG 0.637 25 52 --- --- --- --- PASS NR5A1 2516 broad.mit.edu 37 9 127245163 127245163 + Silent SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr9:127245163C>T uc004boo.1 - 7 1447 c.1260G>A c.(1258-1260)CTG>CTA p.L420L NM_004959 NP_004950 Q13285 STF1_HUMAN nuclear receptor subfamily 5, group A, member 1 420 Important for dimerization. cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding 0 CCAGGCACAGCAGCAGCTGCT 0.617 15 42 --- --- --- --- PASS GAPVD1 26130 broad.mit.edu 37 9 128099688 128099688 + Nonsense_Mutation SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr9:128099688C>T uc010mwx.2 + 17 3021 c.2695C>T c.(2695-2697)CGA>TGA p.R899* GAPVD1_uc011lzs.1_Nonsense_Mutation_p.R899*|GAPVD1_uc004bpp.2_Nonsense_Mutation_p.R926*|GAPVD1_uc004bpq.2_Nonsense_Mutation_p.R899*|GAPVD1_uc004bpr.2_Nonsense_Mutation_p.R878*|GAPVD1_uc004bps.2_Nonsense_Mutation_p.R899*|GAPVD1_uc010mwy.1_Nonsense_Mutation_p.R732* NM_015635 NP_056450 Q14C86 GAPD1_HUMAN GTPase activating protein and VPS9 domains 1 899 endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction cytosol|endosome|membrane GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity ovary(2)|central_nervous_system(1)|skin(1) 4 gAGACTAGTTCGAAGCAGGAG 0.299 38 93 --- --- --- --- PASS TTC16 158248 broad.mit.edu 37 9 130479668 130479668 + Missense_Mutation SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr9:130479668C>T uc004brq.1 + 3 314 c.247C>T c.(247-249)CTC>TTC p.L83F PTRH1_uc004brm.2_5'Flank|PTRH1_uc004bro.2_5'Flank|PTRH1_uc010mxm.2_5'Flank|PTRH1_uc011mah.1_Intron|TTC16_uc011mai.1_Missense_Mutation_p.L83F|TTC16_uc004brr.1_Missense_Mutation_p.L76F|TTC16_uc010mxn.1_5'Flank NM_144965 NP_659402 Q8NEE8 TTC16_HUMAN tetratricopeptide repeat domain 16 83 TPR 1. binding 0 AGCTGTGCTGCTCTTCTCCCG 0.642 29 35 --- --- --- --- PASS C9orf78 51759 broad.mit.edu 37 9 132593188 132593188 + Missense_Mutation SNP C G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr9:132593188C>G uc004byp.2 - 6 576 c.504G>C c.(502-504)CAG>CAC p.Q168H C9orf78_uc004byo.2_Missense_Mutation_p.Q93H|C9orf78_uc004byq.1_Missense_Mutation_p.Q114H NM_016520 NP_057604 Q9NZ63 CI078_HUMAN chromosome 9 open reading frame 78 168 0 Ovarian(14;0.00556) CACTCAGCATCTGGTTGGAAA 0.468 28 43 --- --- --- --- PASS ADARB2 105 broad.mit.edu 37 10 1405819 1405819 + Nonsense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr10:1405819C>A uc009xhq.2 - 3 855 c.481G>T c.(481-483)GAG>TAG p.E161* NM_018702 NP_061172 Q9NS39 RED2_HUMAN adenosine deaminase, RNA-specific, B2 161 DRBM 1. mRNA processing mitochondrion|nucleus adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding large_intestine(2)|central_nervous_system(1) 3 all_epithelial(10;0.059)|Colorectal(49;0.0815) all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165) CCGTTCACCTCCACCGCTACC 0.677 7 31 --- --- --- --- PASS SFMBT2 57713 broad.mit.edu 37 10 7217978 7217978 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr10:7217978C>A uc009xio.1 - 17 2049 c.1958G>T c.(1957-1959)TGC>TTC p.C653F SFMBT2_uc001ijn.1_Missense_Mutation_p.C653F|SFMBT2_uc010qay.1_Missense_Mutation_p.C488F NM_001029880 NP_001025051 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 653 regulation of transcription, DNA-dependent nucleus ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1) 8 ATGAATGGAGCAGTTCTCTGG 0.418 36 247 --- --- --- --- PASS GAD2 2572 broad.mit.edu 37 10 26569998 26569998 + Silent SNP T A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr10:26569998T>A uc001isp.2 + 12 1721 c.1218T>A c.(1216-1218)GCT>GCA p.A406A GAD2_uc001isq.2_Silent_p.A406A NM_001134366 NP_001127838 Q05329 DCE2_HUMAN glutamate decarboxylase 2 406 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|skin(1) 2 L-Glutamic Acid(DB00142) AGTGCTCTGCTCTCCTGGTTA 0.488 51 180 --- --- --- --- PASS PTCHD3 374308 broad.mit.edu 37 10 27702764 27702764 + Nonsense_Mutation SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr10:27702764C>T uc001itu.2 - 1 534 c.416G>A c.(415-417)TGG>TAG p.W139* NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN patched domain containing 3 139 Helical; (Potential). spermatid development integral to membrane hedgehog receptor activity ovary(2)|pancreas(1)|skin(1) 4 CAGGAAGATCCAGGGGTGCGC 0.657 19 73 --- --- --- --- PASS ARMC4 55130 broad.mit.edu 37 10 28225785 28225785 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr10:28225785C>A uc009xky.2 - 15 2220 c.2122G>T c.(2122-2124)GAC>TAC p.D708Y ARMC4_uc010qds.1_Missense_Mutation_p.D233Y|ARMC4_uc010qdt.1_Missense_Mutation_p.D400Y|ARMC4_uc001itz.2_Missense_Mutation_p.D708Y NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 708 binding ovary(4)|skin(2) 6 CTAACGAGGTCCCGGGTTTCC 0.478 43 169 --- --- --- --- PASS ARHGAP12 94134 broad.mit.edu 37 10 32101679 32101679 + Missense_Mutation SNP C A A rs146011999 byFrequency TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr10:32101679C>A uc001ivz.1 - 15 2177 c.1907G>T c.(1906-1908)CGA>CTA p.R636L ARHGAP12_uc001ivy.1_Missense_Mutation_p.R582L|ARHGAP12_uc009xls.2_Missense_Mutation_p.R587L|ARHGAP12_uc001iwb.1_Missense_Mutation_p.R629L|ARHGAP12_uc001iwc.1_Missense_Mutation_p.R604L|ARHGAP12_uc009xlq.1_Missense_Mutation_p.R557L|ARHGAP12_uc001iwd.1_Missense_Mutation_p.R604L NM_018287 NP_060757 Q8IWW6 RHG12_HUMAN Rho GTPase activating protein 12 636 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity 0 Prostate(175;0.0199) AGTGGGGCGTCGTGTAAGAAA 0.338 42 117 --- --- --- --- PASS ZNF33A 7581 broad.mit.edu 37 10 38345387 38345387 + Nonsense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr10:38345387G>T uc001izh.2 + 5 2510 c.2332G>T c.(2332-2334)GAA>TAA p.E778* ZNF33A_uc001izg.2_Nonsense_Mutation_p.E779*|ZNF33A_uc010qev.1_Nonsense_Mutation_p.E785*|ZNF33A_uc001izi.1_Intron NM_006974 NP_008905 Q06730 ZN33A_HUMAN zinc finger protein 33A isoform b 778 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(1) 3 CCTTATGAATGAAATGGATAT 0.388 22 94 --- --- --- --- PASS TMEM72 643236 broad.mit.edu 37 10 45423393 45423393 + Missense_Mutation SNP C G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr10:45423393C>G uc001jbn.2 + 2 292 c.95C>G c.(94-96)ACC>AGC p.T32S uc001jbk.1_Intron|uc001jbl.2_Intron|TMEM72_uc009xmm.1_Intron NM_001123376 NP_001116848 A0PK05 TMM72_HUMAN transmembrane protein 72 32 Helical; (Potential). integral to membrane 0 GGCACTGAGACCTTCCTCCAG 0.542 34 165 --- --- --- --- PASS ANXA8 653145 broad.mit.edu 37 10 47158894 47158894 + Missense_Mutation SNP T G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr10:47158894T>G uc001jeh.2 - 12 1049 c.927A>C c.(925-927)GAA>GAC p.E309D ANXA8_uc001jed.3_Intron|ANXA8_uc010qfr.1_Missense_Mutation_p.E413D|ANXA8_uc010qfs.1_Missense_Mutation_p.E313D|ANXA8_uc010qft.1_RNA|ANXA8L1_uc010qfu.1_Missense_Mutation_p.E130D NM_001098845 NP_001092315 P13928 ANXA8_HUMAN annexin A8-like 1 309 Annexin 4. blood coagulation calcium ion binding|calcium-dependent phospholipid binding central_nervous_system(3) 3 CGCTGGTGTCTTCCTGTGGGC 0.597 9 55 --- --- --- --- PASS CHAT 1103 broad.mit.edu 37 10 50870730 50870730 + Missense_Mutation SNP C G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr10:50870730C>G uc001jhz.2 + 14 2032 c.1879C>G c.(1879-1881)CTG>GTG p.L627V CHAT_uc001jhv.1_Missense_Mutation_p.L509V|CHAT_uc001jhx.1_Missense_Mutation_p.L509V|CHAT_uc001jhy.1_Missense_Mutation_p.L509V|CHAT_uc001jia.2_Missense_Mutation_p.L509V|CHAT_uc010qgs.1_Missense_Mutation_p.L509V NM_020549 NP_065574 P28329 CLAT_HUMAN choline acetyltransferase isoform 2 627 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3) 3 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) CCTGCTGGCACTGCGGGAGCT 0.572 41 154 --- --- --- --- PASS ANK3 288 broad.mit.edu 37 10 61823935 61823935 + Missense_Mutation SNP C G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr10:61823935C>G uc001jky.2 - 39 12623 c.12431G>C c.(12430-12432)AGA>ACA p.R4144T ANK3_uc001jkw.2_Missense_Mutation_p.R665T|ANK3_uc009xpa.2_Missense_Mutation_p.R665T|ANK3_uc001jkx.2_Missense_Mutation_p.R709T|ANK3_uc010qih.1_Missense_Mutation_p.R1532T|ANK3_uc001jkz.3_Missense_Mutation_p.R1525T|ANK3_uc001jkv.2_Missense_Mutation_p.R64T NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 4144 Death. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 TTTTCCGTCTCTGGTAACCCA 0.303 34 122 --- --- --- --- PASS PBLD 64081 broad.mit.edu 37 10 70048725 70048725 + Missense_Mutation SNP G C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr10:70048725G>C uc001jns.1 - 7 678 c.475C>G c.(475-477)CAA>GAA p.Q159E PBLD_uc001jnr.1_Missense_Mutation_p.Q126E|PBLD_uc001jnt.1_Missense_Mutation_p.Q159E|PBLD_uc001jnu.1_Missense_Mutation_p.Q159E|PBLD_uc001jnv.1_Missense_Mutation_p.Q126E NM_022129 NP_071412 P30039 PBLD_HUMAN MAWD binding protein isoform a 159 biosynthetic process isomerase activity skin(2)|ovary(1) 3 AGGAGCTTTTGGGTATCTGGA 0.512 13 240 --- --- --- --- PASS TET1 80312 broad.mit.edu 37 10 70446379 70446379 + Silent SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr10:70446379G>T uc001jok.3 + 11 5824 c.5319G>T c.(5317-5319)GTG>GTT p.V1773V NM_030625 NP_085128 Q8NFU7 TET1_HUMAN CXXC finger 6 1773 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding ovary(5)|lung(2)|prostate(1)|breast(1) 9 TAAGGGCAGTGGAAAAGAAAC 0.468 38 147 --- --- --- --- PASS SGPL1 8879 broad.mit.edu 37 10 72617373 72617373 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr10:72617373G>T uc001jrm.2 + 6 634 c.412G>T c.(412-414)GCC>TCC p.A138S NM_003901 NP_003892 O95470 SGPL1_HUMAN sphingosine-1-phosphate lyase 1 138 Cytoplasmic (Potential). apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process integral to endoplasmic reticulum membrane carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity 0 Pyridoxal Phosphate(DB00114) CTCTGCAGACGCCTTCTGGCA 0.498 32 160 --- --- --- --- PASS CDH23 64072 broad.mit.edu 37 10 73562740 73562740 + Missense_Mutation SNP C G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr10:73562740C>G uc001jrx.3 + 52 7945 c.7568C>G c.(7567-7569)CCG>CGG p.P2523R CDH23_uc001jsg.3_Missense_Mutation_p.P283R|CDH23_uc001jsh.3_Missense_Mutation_p.P283R|CDH23_uc001jsi.3_Missense_Mutation_p.P283R NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 2523 Cadherin 24.|Extracellular (Potential). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 GAGAATGAGCCGGCGGGCACC 0.582 31 95 --- --- --- --- PASS DUSP13 51207 broad.mit.edu 37 10 76868782 76868782 + Missense_Mutation SNP A G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr10:76868782A>G uc001jws.2 - 1 189 c.134T>C c.(133-135)CTT>CCT p.L45P DUSP13_uc001jwu.2_5'UTR|DUSP13_uc001jww.2_Missense_Mutation_p.L45P|DUSP13_uc009xrs.2_5'UTR|DUSP13_uc001jwt.2_5'UTR|DUSP13_uc001jwv.2_5'UTR|SAMD8_uc001jwx.1_5'Flank|SAMD8_uc001jwy.1_5'Flank NM_001007271 NP_001007272 Q6B8I1 MDSP_HUMAN muscle-restricted dual specificity phosphatase 45 Tyrosine-protein phosphatase. cytoplasm protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) TCCTATGAAAAGGTTGGGCCA 0.602 15 69 --- --- --- --- PASS CDHR1 92211 broad.mit.edu 37 10 85971451 85971451 + Silent SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr10:85971451C>A uc001kcv.2 + 14 1533 c.1533C>A c.(1531-1533)ACC>ACA p.T511T CDHR1_uc001kcw.2_Silent_p.T511T|CDHR1_uc009xst.2_Silent_p.T215T|CDHR1_uc001kcx.2_5'Flank NM_033100 NP_149091 Q96JP9 CDHR1_HUMAN protocadherin 21 precursor 511 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion calcium ion binding|receptor activity ovary(1) 1 AATATTCCACCTATGGGACTG 0.572 81 240 --- --- --- --- PASS BMPR1A 657 broad.mit.edu 37 10 88649924 88649924 + Missense_Mutation SNP T A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr10:88649924T>A uc001kdy.2 + 4 721 c.173T>A c.(172-174)TTT>TAT p.F58Y NM_004329 NP_004320 P36894 BMR1A_HUMAN bone morphogenetic protein receptor, type IA 58 Extracellular (Potential). F -> Y (in a renal clear cell carcinoma sample; somatic mutation). BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway integral to membrane|plasma membrane ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity p.F58Y(1) lung(3)|large_intestine(1)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1) 8 ACCTTGCCTTTTTTAAAGTGC 0.403 Mis|N|F gastrointestinal polyps Hereditary_Mixed_Polyposis_syndrome_type_2|Juvenile_Polyposis 37 280 --- --- --- --- PASS TBC1D12 23232 broad.mit.edu 37 10 96253172 96253172 + Missense_Mutation SNP A T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr10:96253172A>T uc001kjr.2 + 4 1447 c.1262A>T c.(1261-1263)TAC>TTC p.Y421F NM_015188 NP_056003 O60347 TBC12_HUMAN TBC1 domain family, member 12 421 Potential. intracellular Rab GTPase activator activity 0 Colorectal(252;0.0429) CGACAAGAATACGATGAGATG 0.313 20 97 --- --- --- --- PASS SORBS1 10580 broad.mit.edu 37 10 97158878 97158878 + Missense_Mutation SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr10:97158878C>T uc001kkp.2 - 10 1099 c.1054G>A c.(1054-1056)GGC>AGC p.G352S SORBS1_uc001kkl.2_5'UTR|SORBS1_uc001kkn.2_Missense_Mutation_p.G185S|SORBS1_uc001kkm.2_Missense_Mutation_p.G208S|SORBS1_uc001kko.2_Missense_Mutation_p.G352S|SORBS1_uc001kkq.2_Missense_Mutation_p.G283S|SORBS1_uc001kkr.2_Missense_Mutation_p.G188S|SORBS1_uc001kks.2_Missense_Mutation_p.G188S|SORBS1_uc001kkt.2_RNA|SORBS1_uc001kku.2_Missense_Mutation_p.G229S|SORBS1_uc001kkv.2_Missense_Mutation_p.G320S|SORBS1_uc001kkw.2_Missense_Mutation_p.G352S|SORBS1_uc010qoe.1_Missense_Mutation_p.G197S|SORBS1_uc010qof.1_Missense_Mutation_p.G550S NM_001034954 NP_001030126 Q9BX66 SRBS1_HUMAN sorbin and SH3 domain containing 1 isoform 3 352 focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens actin binding|insulin receptor binding|SH3/SH2 adaptor activity breast(1) 1 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) ATAGCCTTGCCAGGTGAGGTG 0.488 42 117 --- --- --- --- PASS HPS1 3257 broad.mit.edu 37 10 100179892 100179892 + Silent SNP C A A rs79218830 byFrequency TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr10:100179892C>A uc010qpf.1 - 18 2013 c.1767G>T c.(1765-1767)GCG>GCT p.A589A HPS1_uc001kpi.1_Silent_p.A590A|HPS1_uc001kpj.1_Silent_p.A497A|HPS1_uc001kpk.1_Silent_p.A414A NM_000195 NP_000186 Q92902 HPS1_HUMAN Hermansky-Pudlak syndrome 1 protein isoform a 589 lysosome organization|response to stimulus|visual perception cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction protein dimerization activity skin(1) 1 Colorectal(252;0.234) Epithelial(162;3.87e-12)|all cancers(201;5.63e-10) GGTATCTGCGCGCCAGCTGGA 0.572 Hermansky-Pudlak_syndrome 79 197 --- --- --- --- PASS ABCC2 1244 broad.mit.edu 37 10 101560142 101560142 + Splice_Site SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr10:101560142G>T uc001kqf.2 + 9 1171 c.1032_splice c.e9-1 p.K344_splice NM_000392 NP_000383 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity ovary(1) 1 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) TTCTCTGGCAGATTGCTGATC 0.458 134 471 --- --- --- --- PASS CPN1 1369 broad.mit.edu 37 10 101816862 101816862 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr10:101816862G>T uc001kql.2 - 6 1179 c.919C>A c.(919-921)CTG>ATG p.L307M NM_001308 NP_001299 P15169 CBPN_HUMAN carboxypeptidase N, polypeptide 1 precursor 307 Catalytic. proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding central_nervous_system(3)|pancreas(1) 4 Colorectal(252;0.234) Epithelial(162;4.77e-10)|all cancers(201;3.82e-08) CTCAGTTCCAGCGTGATCTCA 0.498 138 419 --- --- --- --- PASS CPN1 1369 broad.mit.edu 37 10 101825081 101825081 + Missense_Mutation SNP T C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr10:101825081T>C uc001kql.2 - 4 883 c.623A>G c.(622-624)AAC>AGC p.N208S NM_001308 NP_001299 P15169 CBPN_HUMAN carboxypeptidase N, polypeptide 1 precursor 208 Catalytic. proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding central_nervous_system(3)|pancreas(1) 4 Colorectal(252;0.234) Epithelial(162;4.77e-10)|all cancers(201;3.82e-08) AAGAACAAAGTTGAAGGAGTG 0.622 34 97 --- --- --- --- PASS ATRNL1 26033 broad.mit.edu 37 10 117221452 117221452 + Nonsense_Mutation SNP C G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr10:117221452C>G uc001lcg.2 + 22 3710 c.3324C>G c.(3322-3324)TAC>TAG p.Y1108* ATRNL1_uc010qsm.1_Nonsense_Mutation_p.Y237*|ATRNL1_uc010qsn.1_Intron NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 1108 Laminin EGF-like 2.|Extracellular (Potential). integral to membrane sugar binding ovary(5)|lung(1)|central_nervous_system(1) 7 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) TCCCTACAGACAGCCTTTTGA 0.328 20 83 --- --- --- --- PASS DMBT1 1755 broad.mit.edu 37 10 124358505 124358505 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr10:124358505G>T uc001lgk.1 + 26 3278 c.3172G>T c.(3172-3174)GAT>TAT p.D1058Y DMBT1_uc001lgl.1_Missense_Mutation_p.D1048Y|DMBT1_uc001lgm.1_Missense_Mutation_p.D559Y|DMBT1_uc009xzz.1_Missense_Mutation_p.D1058Y|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Missense_Mutation_p.D19Y NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 1058 SRCR 8. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) CATTGTCCTGGATGATGTGCG 0.587 87 261 --- --- --- --- PASS CDHR5 53841 broad.mit.edu 37 11 619004 619004 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr11:619004C>A uc001lqj.2 - 13 1660 c.1555G>T c.(1555-1557)GGG>TGG p.G519W CDHR5_uc001lqk.2_Intron|CDHR5_uc009ycc.2_Missense_Mutation_p.G353W|CDHR5_uc009ycd.2_Missense_Mutation_p.G513W|CDHR5_uc001lql.2_Missense_Mutation_p.G519W NM_021924 NP_068743 Q9HBB8 CDHR5_HUMAN mucin and cadherin-like isoform 1 519 Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 GGGGGCCCCCCGGGTGTGGAC 0.672 64 150 --- --- --- --- PASS MUC5B 727897 broad.mit.edu 37 11 1156570 1156570 + Splice_Site SNP A T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr11:1156570A>T uc009ycr.1 + 7 715 c.589_splice c.e7-2 p.L197_splice NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 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) CTCCCTTTGCAGCTGGAGCTG 0.612 48 113 --- --- --- --- PASS OR52N4 390072 broad.mit.edu 37 11 5776353 5776353 + Missense_Mutation SNP T A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr11:5776353T>A uc001mbu.2 + 1 431 c.383T>A c.(382-384)ATC>AAC p.I128N TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron NM_001005175 NP_001005175 Q8NGI2 O52N4_HUMAN olfactory receptor, family 52, subfamily N, 128 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197) TATGTGGCCATCTGCTACCCC 0.488 65 162 --- --- --- --- PASS OR56A3 390083 broad.mit.edu 37 11 5969286 5969286 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr11:5969286C>A uc010qzt.1 + 1 710 c.710C>A c.(709-711)GCC>GAC p.A237D NM_001003443 NP_001003443 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, 237 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCAGAGGGTGCCGTGGCAAAG 0.522 103 196 --- --- --- --- PASS RRP8 23378 broad.mit.edu 37 11 6622767 6622767 + Missense_Mutation SNP G A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr11:6622767G>A uc001med.2 - 3 608 c.529C>T c.(529-531)CCT>TCT p.P177S ILK_uc001mee.2_5'Flank|ILK_uc001mef.2_5'Flank|ILK_uc010rap.1_5'Flank|ILK_uc010raq.1_5'Flank|ILK_uc001meg.2_5'Flank|ILK_uc001meh.2_5'Flank NM_015324 NP_056139 O43159 RRP8_HUMAN ribosomal RNA processing 8, methyltransferase, 177 chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity 0 GGGGGTTTAGGGGAAGTGGAC 0.527 62 173 --- --- --- --- PASS DCHS1 8642 broad.mit.edu 37 11 6653340 6653340 + Nonsense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr11:6653340C>A uc001mem.1 - 6 3813 c.3403G>T c.(3403-3405)GGA>TGA p.G1135* NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 1135 Cadherin 11.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCATTGGGTCCTGAGTCTCGG 0.612 9 21 --- --- --- --- PASS NELL1 4745 broad.mit.edu 37 11 21592424 21592424 + Missense_Mutation SNP G A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr11:21592424G>A uc001mqe.2 + 18 2248 c.2095G>A c.(2095-2097)GGT>AGT p.G699S NELL1_uc001mqf.2_Missense_Mutation_p.G652S|NELL1_uc009yid.2_Missense_Mutation_p.G727S|NELL1_uc010rdo.1_Missense_Mutation_p.G642S|NELL1_uc010rdp.1_Missense_Mutation_p.G412S|NELL1_uc001mqh.2_Missense_Mutation_p.G244S NM_006157 NP_006148 Q92832 NELL1_HUMAN nel-like 1 isoform 1 precursor 699 VWFC 4. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity ovary(2)|large_intestine(1) 3 AGACCAAAATGGTCACAAGCT 0.473 57 194 --- --- --- --- PASS PDHX 8050 broad.mit.edu 37 11 34988317 34988317 + Missense_Mutation SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr11:34988317C>T uc001mvt.2 + 6 1298 c.772C>T c.(772-774)CCT>TCT p.P258S PDHX_uc010rep.1_Missense_Mutation_p.P243S|PDHX_uc010req.1_Intron NM_003477 NP_003468 O00330 ODPX_HUMAN pyruvate dehydrogenase complex, component X 258 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix acyltransferase activity kidney(1) 1 all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242) all_hematologic(20;0.124) STAD - Stomach adenocarcinoma(6;0.00113) TTATCCCCGGCCTGTGATCCC 0.468 42 151 --- --- --- --- PASS GYLTL1B 120071 broad.mit.edu 37 11 45950301 45950301 + Missense_Mutation SNP G A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr11:45950301G>A uc001nbv.1 + 14 2182 c.2071G>A c.(2071-2073)GAC>AAC p.D691N GYLTL1B_uc001nbw.1_Missense_Mutation_p.D660N|GYLTL1B_uc001nbx.1_Missense_Mutation_p.D691N|GYLTL1B_uc001nby.1_Missense_Mutation_p.D374N|GYLTL1B_uc001nbz.1_Silent_p.R39R NM_152312 NP_689525 Q8N3Y3 LARG2_HUMAN glycosyltransferase-like 1B 691 Lumenal (Potential). muscle cell homeostasis Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(35;0.226) GGCCCTCAAGGACGAATTCCA 0.662 40 93 --- --- --- --- PASS OR4C3 256144 broad.mit.edu 37 11 48347191 48347191 + Silent SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr11:48347191G>T uc010rhv.1 + 1 699 c.699G>T c.(697-699)CTG>CTT p.L233L NM_001004702 NP_001004702 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, 206 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TAATCTGCCTGTTGAACTTCC 0.512 5 133 --- --- --- --- PASS OR4A5 81318 broad.mit.edu 37 11 51411694 51411694 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr11:51411694C>A uc001nhi.1 - 1 702 c.702G>T c.(700-702)TTG>TTT p.L234F NM_001005272 NP_001005272 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, 234 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(304;0.236) TGCAGGTAGACAAGGCTTTAC 0.408 31 121 --- --- --- --- PASS OR10AG1 282770 broad.mit.edu 37 11 55735485 55735485 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr11:55735485C>A uc010rit.1 - 1 455 c.455G>T c.(454-456)TGC>TTC p.C152F NM_001005491 NP_001005491 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, 152 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.0137) GAAAATTTGGCATGTTTCCCC 0.403 38 104 --- --- --- --- PASS OR8H2 390151 broad.mit.edu 37 11 55872597 55872597 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr11:55872597G>T uc010riy.1 + 1 79 c.79G>T c.(79-81)GCT>TCT p.A27S NM_001005200 NP_001005200 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, 27 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Esophageal squamous(21;0.00693) GATCCAGATGGCTCTGTTTAT 0.443 HNSCC(53;0.14) 117 434 --- --- --- --- PASS OR8K3 219473 broad.mit.edu 37 11 56086487 56086487 + Missense_Mutation SNP G C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr11:56086487G>C uc010rjf.1 + 1 705 c.705G>C c.(703-705)AAG>AAC p.K235N NM_001005202 NP_001005202 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, 235 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(21;0.00448) GCAGACAAAAGGCTTTTTCTA 0.433 41 128 --- --- --- --- PASS GLYATL2 219970 broad.mit.edu 37 11 58602171 58602171 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr11:58602171C>A uc001nnd.3 - 6 747 c.616G>T c.(616-618)GGT>TGT p.G206C GLYATL2_uc009ymq.2_Missense_Mutation_p.G206C NM_145016 NP_659453 Q8WU03 GLYL2_HUMAN glycine-N-acyltransferase-like 2 206 mitochondrion glycine N-acyltransferase activity ovary(1)|skin(1) 2 Breast(21;0.0044)|all_epithelial(135;0.0216) Glycine(DB00145) CCCTCTGGACCCAGCACACCA 0.468 29 113 --- --- --- --- PASS MS4A6E 245802 broad.mit.edu 37 11 60105257 60105257 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr11:60105257C>A uc001npd.2 + 2 205 c.191C>A c.(190-192)GCC>GAC p.A64D NM_139249 NP_640342 Q96DS6 M4A6E_HUMAN membrane-spanning 4-domains, subfamily A, member 64 Helical; (Potential). integral to membrane receptor activity 0 GCTCTGTCTGCCCTGGTGGGT 0.488 71 247 --- --- --- --- PASS SCGB2A1 4246 broad.mit.edu 37 11 61977983 61977983 + Missense_Mutation SNP A G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr11:61977983A>G uc001nta.2 + 2 218 c.154A>G c.(154-156)AGT>GGT p.S52G NM_002407 NP_002398 O75556 SG2A1_HUMAN secretoglobin, family 2A, member 1 precursor 52 extracellular region androgen binding 0 GTTCATAGACAGTGATGCCGC 0.428 71 221 --- --- --- --- PASS RCOR2 283248 broad.mit.edu 37 11 63681958 63681958 + Missense_Mutation SNP G A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr11:63681958G>A uc001nyc.2 - 6 924 c.536C>T c.(535-537)ACC>ATC p.T179I NM_173587 NP_775858 Q8IZ40 RCOR2_HUMAN REST corepressor 2 179 SANT 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1)|skin(1) 2 TCGGCTGCGGGTCTTCTTCCA 0.602 56 186 --- --- --- --- PASS NRXN2 9379 broad.mit.edu 37 11 64418751 64418751 + Missense_Mutation SNP A T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr11:64418751A>T uc001oar.2 - 15 3333 c.2894T>A c.(2893-2895)TTC>TAC p.F965Y NRXN2_uc001oas.2_Missense_Mutation_p.F925Y|NRXN2_uc001oaq.2_Missense_Mutation_p.F632Y NM_015080 NP_055895 P58401 NRX2B_HUMAN neurexin 2 isoform alpha-1 precursor Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell adhesion integral to membrane upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1) 10 GATGACAATGAAGTCATTGCC 0.587 OREG0004037|OREG0021057 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=REGULATORY REGION|Gene=AL137356|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 28 89 --- --- --- --- PASS P2RY2 5029 broad.mit.edu 37 11 72945604 72945604 + Missense_Mutation SNP G C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr11:72945604G>C uc001otj.2 + 3 733 c.400G>C c.(400-402)GGC>CGC p.G134R P2RY2_uc001otk.2_Missense_Mutation_p.G134R|P2RY2_uc001otl.2_Missense_Mutation_p.G134R NM_002564 NP_002555 P41231 P2RY2_HUMAN purinergic receptor P2Y2 134 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(2)|lung(1)|skin(1) 4 Suramin(DB04786) CCGGTGTCTGGGCGTCTTACG 0.672 15 168 --- --- --- --- PASS ODZ4 26011 broad.mit.edu 37 11 78381554 78381554 + Missense_Mutation SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr11:78381554C>T uc001ozl.3 - 32 6299 c.5836G>A c.(5836-5838)GAG>AAG p.E1946K ODZ4_uc001ozk.3_Missense_Mutation_p.E171K|ODZ4_uc009yvb.1_Missense_Mutation_p.E530K NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 1946 Extracellular (Potential).|YD 6. signal transduction integral to membrane ovary(2)|pancreas(2) 4 TTGTCGAACTCAAAGATATAC 0.532 11 91 --- --- --- --- PASS SYTL2 54843 broad.mit.edu 37 11 85445676 85445676 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr11:85445676C>A uc010rth.1 - 6 969 c.693G>T c.(691-693)AAG>AAT p.K231N SYTL2_uc010rtg.1_Missense_Mutation_p.K232N|SYTL2_uc010rti.1_Missense_Mutation_p.K231N|SYTL2_uc010rtj.1_Missense_Mutation_p.K183N|SYTL2_uc001pbf.3_Missense_Mutation_p.K231N|SYTL2_uc010rtf.1_Missense_Mutation_p.K89N NM_001162951 NP_001156423 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 isoform g 231 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding ovary(2)|large_intestine(1) 3 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) GGATTGGAGCCTTGATTTGGG 0.408 46 159 --- --- --- --- PASS MMP20 9313 broad.mit.edu 37 11 102487666 102487666 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr11:102487666G>T uc001phc.2 - 2 264 c.251C>A c.(250-252)ACC>AAC p.T84N NM_004771 NP_004762 O60882 MMP20_HUMAN matrix metalloproteinase 20 preproprotein 84 proteolysis|regulation of enamel mineralization extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding urinary_tract(1)|skin(1) 2 all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13) BRCA - Breast invasive adenocarcinoma(274;0.0161) TAACTTCCCGGTGACTTGGAG 0.478 23 86 --- --- --- --- PASS OR10G9 219870 broad.mit.edu 37 11 123893758 123893758 + Silent SNP G T T rs140807602 byFrequency TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr11:123893758G>T uc010sad.1 + 1 39 c.39G>T c.(37-39)ACG>ACT p.T13T NM_001001953 NP_001001953 Q8NGN4 O10G9_HUMAN olfactory receptor, family 10, subfamily G, 13 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) TCATCCTCACGGGCCTTCCCC 0.562 102 308 --- --- --- --- PASS OR10G9 219870 broad.mit.edu 37 11 123894186 123894186 + Missense_Mutation SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr11:123894186C>T uc010sad.1 + 1 467 c.467C>T c.(466-468)GCT>GTT p.A156V NM_001001953 NP_001001953 Q8NGN4 O10G9_HUMAN olfactory receptor, family 10, subfamily G, 156 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) CTGCACTCTGCTGTCCAGACC 0.552 145 346 --- --- --- --- PASS OR8D1 283159 broad.mit.edu 37 11 124180337 124180337 + Missense_Mutation SNP A T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr11:124180337A>T uc010sag.1 - 1 326 c.326T>A c.(325-327)GTG>GAG p.V109E NM_001002917 NP_001002917 Q8WZ84 OR8D1_HUMAN olfactory receptor, family 8, subfamily D, 109 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) ACCCTCAGCCACCACAAAGAC 0.463 23 44 --- --- --- --- PASS STT3A 3703 broad.mit.edu 37 11 125472715 125472715 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr11:125472715G>T uc001qcd.2 + 5 399 c.289G>T c.(289-291)GCT>TCT p.A97S STT3A_uc009zbm.2_Missense_Mutation_p.A97S|STT3A_uc001qce.2_Missense_Mutation_p.A97S|STT3A_uc010sbg.1_Missense_Mutation_p.A5S NM_152713 NP_689926 P46977 STT3A_HUMAN integral membrane protein 1 97 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity 0 all_hematologic(175;0.228) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996) GATCACCTCTGCTGCAATCTA 0.428 39 169 --- --- --- --- PASS RPUSD4 84881 broad.mit.edu 37 11 126075379 126075379 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr11:126075379C>A uc001qde.2 - 5 834 c.780G>T c.(778-780)GAG>GAT p.E260D RPUSD4_uc010sbl.1_Missense_Mutation_p.E67D|RPUSD4_uc009zbz.2_Missense_Mutation_p.E229D|RPUSD4_uc009zby.2_RNA NM_032795 NP_116184 Q96CM3 RUSD4_HUMAN RNA pseudouridylate synthase domain containing 4 260 pseudouridine synthesis protein binding|pseudouridine synthase activity|RNA binding breast(1) 1 all_hematologic(175;0.145) Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761) TGGGCTGGAGCTCCACGAGGG 0.567 31 99 --- --- --- --- PASS CACNA2D4 93589 broad.mit.edu 37 12 1995536 1995536 + Silent SNP G A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr12:1995536G>A uc001qjp.2 - 8 1077 c.846C>T c.(844-846)TAC>TAT p.Y282Y CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Intron NM_172364 NP_758952 Q7Z3S7 CA2D4_HUMAN voltage-gated calcium channel alpha(2)delta-4 282 Extracellular (Potential). integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity ovary(1) 1 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) CAGCTTGAATGTACCTGAAGG 0.498 18 42 --- --- --- --- PASS CACNA1C 775 broad.mit.edu 37 12 2775903 2775903 + Silent SNP G A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr12:2775903G>A uc009zdu.1 + 39 5035 c.4722G>A c.(4720-4722)CCG>CCA p.P1574P CACNA1C_uc009zdv.1_Silent_p.P1523P|CACNA1C_uc001qkb.2_Silent_p.P1526P|CACNA1C_uc001qkc.2_Silent_p.P1526P|CACNA1C_uc001qke.2_Silent_p.P1515P|CACNA1C_uc001qkf.2_Silent_p.P1515P|CACNA1C_uc001qjz.2_Silent_p.P1526P|CACNA1C_uc001qkd.2_Silent_p.P1526P|CACNA1C_uc001qkg.2_Silent_p.P1513P|CACNA1C_uc009zdw.1_Silent_p.P1548P|CACNA1C_uc001qkh.2_Silent_p.P1515P|CACNA1C_uc001qkl.2_Silent_p.P1574P|CACNA1C_uc001qkn.2_Silent_p.P1526P|CACNA1C_uc001qko.2_Silent_p.P1546P|CACNA1C_uc001qkp.2_Silent_p.P1526P|CACNA1C_uc001qkr.2_Silent_p.P1543P|CACNA1C_uc001qku.2_Silent_p.P1526P|CACNA1C_uc001qkq.2_Silent_p.P1554P|CACNA1C_uc001qks.2_Silent_p.P1526P|CACNA1C_uc001qkt.2_Silent_p.P1526P|CACNA1C_uc001qki.1_Silent_p.P1262P|CACNA1C_uc001qkj.1_Silent_p.P1262P|CACNA1C_uc001qkk.1_Silent_p.P1262P|CACNA1C_uc001qkm.1_Silent_p.P1251P|CACNA1C_uc010sea.1_Silent_p.P217P NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 1574 Cytoplasmic (Potential). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GGATTCAGCCGCCACTAGGTT 0.577 6 11 --- --- --- --- PASS KCNA5 3741 broad.mit.edu 37 12 5154937 5154937 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr12:5154937C>A uc001qni.2 + 1 1853 c.1624C>A c.(1624-1626)CAG>AAG p.Q542K NM_002234 NP_002225 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related 542 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(2)|breast(2) 4 GCAGGGCACTCAGAGCCAGGG 0.627 19 56 --- --- --- --- PASS EMG1 10436 broad.mit.edu 37 12 7084422 7084422 + Missense_Mutation SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr12:7084422C>T uc001qsh.3 + 7 646 c.503C>T c.(502-504)CCA>CTA p.P168L EMG1_uc009zfo.2_Intron|EMG1_uc010sfv.1_RNA NM_006331 NP_006322 Q92979 NEP1_HUMAN ribosome biogenesis protein NEP1 168 ribosomal small subunit biogenesis cytoplasm|nucleolus rRNA (pseudouridine) methyltransferase activity|rRNA binding 0 GATCACTTTCCAGTTGGATGT 0.433 15 59 --- --- --- --- PASS C1R 715 broad.mit.edu 37 12 7241892 7241892 + Silent SNP T A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr12:7241892T>A uc010sfy.1 - 5 824 c.765A>T c.(763-765)CTA>CTT p.L255L C1R_uc010sfz.1_Silent_p.L269L|C1R_uc010sga.1_Silent_p.L221L NM_001733 NP_001724 P00736 C1R_HUMAN complement component 1, r subcomponent 255 CUB 2. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity 0 Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) GCTGTACCTGTAGCTGGTCAT 0.587 8 46 --- --- --- --- PASS GDF3 9573 broad.mit.edu 37 12 7843100 7843100 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr12:7843100C>A uc001qte.2 - 2 505 c.469G>T c.(469-471)GGC>TGC p.G157C NM_020634 NP_065685 Q9NR23 GDF3_HUMAN growth differentiation factor 3 precursor 157 eye development|growth|skeletal system development extracellular space cytokine activity|growth factor activity skin(3)|ovary(1)|lung(1)|central_nervous_system(1) 6 GTGGTCTGGCCCCACACATGA 0.547 62 113 --- --- --- --- PASS SLC2A14 144195 broad.mit.edu 37 12 7980133 7980133 + Silent SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr12:7980133G>T uc001qtk.2 - 12 1684 c.891C>A c.(889-891)TCC>TCA p.S297S SLC2A14_uc001qtl.2_Silent_p.S274S|SLC2A14_uc001qtm.2_Silent_p.S274S|SLC2A14_uc010sgg.1_Silent_p.S188S|SLC2A14_uc001qtn.2_Silent_p.S297S|SLC2A14_uc001qto.2_Intron|SLC2A14_uc010sgh.1_Silent_p.S312S NM_153449 NP_703150 Q8TDB8 GTR14_HUMAN glucose transporter 14 297 Helical; Name=7; (Potential). cell differentiation|multicellular organismal development|spermatogenesis integral to membrane glucose transmembrane transporter activity ovary(1) 1 Kidney(36;0.0883) GGAGCACAATGGAAATGATGA 0.438 14 53 --- --- --- --- PASS A2M 2 broad.mit.edu 37 12 9256835 9256835 + Silent SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr12:9256835C>T uc001qvk.1 - 11 1379 c.1266G>A c.(1264-1266)AGG>AGA p.R422R A2M_uc009zgk.1_Silent_p.R272R NM_000014 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin precursor 422 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding central_nervous_system(4)|skin(1) 5 Bacitracin(DB00626)|Becaplermin(DB00102) CCAAACTTACCCTAACAGTAA 0.408 13 49 --- --- --- --- PASS SLCO1B1 10599 broad.mit.edu 37 12 21350092 21350092 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr12:21350092C>A uc001req.3 + 8 1044 c.940C>A c.(940-942)CAA>AAA p.Q314K NM_006446 NP_006437 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, 314 Cytoplasmic (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1) 8 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) TTTGACCAATCAAGGAAAAAA 0.318 22 114 --- --- --- --- PASS SLCO1A2 6579 broad.mit.edu 37 12 21422583 21422583 + Nonsense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr12:21422583C>A uc001rer.2 - 14 2163 c.1912G>T c.(1912-1914)GAG>TAG p.E638* SLCO1A2_uc001res.2_Nonsense_Mutation_p.E638*|SLCO1A2_uc010siq.1_Nonsense_Mutation_p.E506*|SLCO1A2_uc010sio.1_Nonsense_Mutation_p.E506*|SLCO1A2_uc010sip.1_Nonsense_Mutation_p.E506* NM_021094 NP_066580 P46721 SO1A2_HUMAN organic anion transporting polypeptide A 638 Cytoplasmic (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 TCTATAAGCTCTGTTCCTGAA 0.383 82 162 --- --- --- --- PASS LDHB 3945 broad.mit.edu 37 12 21794951 21794951 + Missense_Mutation SNP T A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr12:21794951T>A uc001rfc.2 - 4 548 c.530A>T c.(529-531)GAA>GTA p.E177V LDHB_uc001rfd.2_Missense_Mutation_p.E177V|LDHB_uc001rfe.2_Missense_Mutation_p.E177V NM_002300 NP_002291 P07195 LDHB_HUMAN L-lactate dehydrogenase B 177 glycolysis|pyruvate metabolic process cytosol L-lactate dehydrogenase activity breast(2)|ovary(1) 3 NADH(DB00157) GCCAAGTTTTTCAGCCATAAG 0.418 41 140 --- --- --- --- PASS GPD1 2819 broad.mit.edu 37 12 50501542 50501542 + Missense_Mutation SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr12:50501542C>T uc001rvz.2 + 6 838 c.805C>T c.(805-807)CGG>TGG p.R269W GPD1_uc001rwa.2_Missense_Mutation_p.R246W NM_005276 NP_005267 P21695 GPDA_HUMAN glycerol-3-phosphate dehydrogenase 1 (soluble) 269 Substrate binding. NAD. glycerol-3-phosphate catabolic process|triglyceride biosynthetic process cytosol|glycerol-3-phosphate dehydrogenase complex glycerol-3-phosphate dehydrogenase|protein homodimerization activity 0 NADH(DB00157) CTATGGAGGGCGGAACCGGAA 0.602 69 202 --- --- --- --- PASS KRT78 196374 broad.mit.edu 37 12 53233571 53233571 + Silent SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr12:53233571C>T uc001sbc.1 - 7 1309 c.1245G>A c.(1243-1245)AGG>AGA p.R415R NM_173352 NP_775487 Q8N1N4 K2C78_HUMAN keratin 5b 415 Coil 2.|Rod. keratin filament protein binding|structural molecule activity ovary(2) 2 CCTCCAGCAGCCTGCGGTAAG 0.602 32 87 --- --- --- --- PASS IGFBP6 3489 broad.mit.edu 37 12 53494917 53494917 + Missense_Mutation SNP C G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr12:53494917C>G uc001sbu.1 + 3 639 c.573C>G c.(571-573)GAC>GAG p.D191E SOAT2_uc001sbv.2_5'Flank|SOAT2_uc009zms.2_5'Flank NM_002178 NP_002169 P24592 IBP6_HUMAN insulin-like growth factor binding protein 6 191 Thyroglobulin type-1. negative regulation of cell proliferation|regulation of cell growth|signal transduction ovary(1) 1 CCAATTGTGACCATCGAGGCT 0.582 37 126 --- --- --- --- PASS SP7 121340 broad.mit.edu 37 12 53722390 53722390 + Missense_Mutation SNP T C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr12:53722390T>C uc001sct.2 - 2 943 c.836A>G c.(835-837)GAG>GGG p.E279G SP7_uc001scu.2_Missense_Mutation_p.E261G|SP7_uc001scv.2_Missense_Mutation_p.E279G NM_152860 NP_690599 Q8TDD2 SP7_HUMAN osterix 279 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TCCCAGCCGCTCTAGCTCCTG 0.657 4 31 --- --- --- --- PASS NCKAP1L 3071 broad.mit.edu 37 12 54917320 54917320 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr12:54917320C>A uc001sgc.3 + 19 2100 c.2021C>A c.(2020-2022)ACC>AAC p.T674N NCKAP1L_uc010sox.1_Missense_Mutation_p.T216N|NCKAP1L_uc010soy.1_Missense_Mutation_p.T624N NM_005337 NP_005328 P55160 NCKPL_HUMAN NCK-associated protein 1-like 674 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity ovary(3)|central_nervous_system(1) 4 AGCATTGTCACCAAGTGAGGA 0.542 33 111 --- --- --- --- PASS OR6C70 390327 broad.mit.edu 37 12 55863141 55863141 + Missense_Mutation SNP G A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr12:55863141G>A uc010spn.1 - 1 782 c.782C>T c.(781-783)TCA>TTA p.S261L NM_001005499 NP_001005499 A6NIJ9 O6C70_HUMAN olfactory receptor, family 6, subfamily C, 261 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TTCATTCGCTGATGGCTTTAT 0.393 51 170 --- --- --- --- PASS OS9 10956 broad.mit.edu 37 12 58090110 58090110 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr12:58090110G>T uc001spj.2 + 5 592 c.533G>T c.(532-534)GGG>GTG p.G178V OS9_uc010srx.1_Intron|OS9_uc001spk.2_Missense_Mutation_p.G178V|OS9_uc001spl.2_Missense_Mutation_p.G178V|OS9_uc001spm.2_Missense_Mutation_p.G178V|OS9_uc001spn.2_Missense_Mutation_p.G178V|OS9_uc010sry.1_Intron|OS9_uc010srz.1_Missense_Mutation_p.G119V NM_006812 NP_006803 Q13438 OS9_HUMAN osteosarcoma amplified 9, endoplasmic reticulum 178 PRKCSH. ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex glycoprotein binding|protein binding|sugar binding ovary(1) 1 all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) TATGGCAATGGGTCCAAGTGC 0.542 46 124 --- --- --- --- PASS IL26 55801 broad.mit.edu 37 12 68619426 68619426 + Silent SNP T G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr12:68619426T>G uc001stx.1 - 1 146 c.111A>C c.(109-111)ACA>ACC p.T37T NM_018402 NP_060872 Q9NPH9 IL26_HUMAN interleukin 26 precursor 37 cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter cytosol|extracellular space|soluble fraction cytokine activity 0 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000515) CTTGGGACAATGTTCCCCTTG 0.443 100 338 --- --- --- --- PASS PTPRR 5801 broad.mit.edu 37 12 71314168 71314168 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr12:71314168C>A uc001swi.1 - 1 419 c.3G>T c.(1-3)ATG>ATT p.M1I NM_002849 NP_002840 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 1 in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) CTGCTCTCCGCATAGTGTTTG 0.552 11 39 --- --- --- --- PASS LRRIQ1 84125 broad.mit.edu 37 12 85492717 85492717 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr12:85492717G>T uc001tac.2 + 13 3265 c.3154G>T c.(3154-3156)GCA>TCA p.A1052S LRRIQ1_uc001tab.1_Missense_Mutation_p.A1052S NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 1052 LRR 8. ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) AACTGTGGAAGCATTTTCTTC 0.303 27 101 --- --- --- --- PASS UHRF1BP1L 23074 broad.mit.edu 37 12 100431478 100431478 + Missense_Mutation SNP A G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr12:100431478A>G uc001tgq.2 - 21 4560 c.4331T>C c.(4330-4332)CTT>CCT p.L1444P UHRF1BP1L_uc001tgp.2_Missense_Mutation_p.L1094P NM_015054 NP_055869 A0JNW5 UH1BL_HUMAN UHRF1 (ICBP90) binding protein 1-like isoform a 1444 Potential. ovary(2) 2 AGCCTCTGCAAGAGCCATTTT 0.383 29 151 --- --- --- --- PASS ANO4 121601 broad.mit.edu 37 12 101491478 101491478 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr12:101491478C>A uc010svm.1 + 20 2472 c.1900C>A c.(1900-1902)CTA>ATA p.L634I ANO4_uc001thw.2_Missense_Mutation_p.L599I|ANO4_uc001thx.2_Missense_Mutation_p.L634I|ANO4_uc001thy.2_Missense_Mutation_p.L154I NM_178826 NP_849148 Q32M45 ANO4_HUMAN anoctamin 4 634 Cytoplasmic (Potential). chloride channel complex chloride channel activity ovary(4)|skin(2) 6 CAGGTGGAGACTAGAAGAGGT 0.438 HNSCC(74;0.22) 24 130 --- --- --- --- PASS HCFC2 29915 broad.mit.edu 37 12 104476524 104476524 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr12:104476524C>A uc001tkj.3 + 7 1011 c.908C>A c.(907-909)TCT>TAT p.S303Y HCFC2_uc009zul.2_RNA NM_013320 NP_037452 Q9Y5Z7 HCFC2_HUMAN host cell factor C2 303 Kelch 4. regulation of transcription from RNA polymerase II promoter|viral reproduction cytoplasm|nucleus transcription coactivator activity ovary(2)|central_nervous_system(1) 3 GTATCAGATTCTCAGGAAGAT 0.363 6 128 --- --- --- --- PASS RFX4 5992 broad.mit.edu 37 12 107090222 107090222 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr12:107090222C>A uc001tlr.2 + 8 897 c.831C>A c.(829-831)GAC>GAA p.D277E RFX4_uc010swv.1_RNA|RFX4_uc001tls.2_Missense_Mutation_p.D286E|RFX4_uc001tlt.2_Missense_Mutation_p.D286E|RFX4_uc001tlv.2_Missense_Mutation_p.D183E NM_213594 NP_998759 Q33E94 RFX4_HUMAN regulatory factor X4 isoform c 277 transcription, DNA-dependent nucleus DNA binding upper_aerodigestive_tract(1) 1 CATTACCTGACAGGTGGGCAT 0.527 44 126 --- --- --- --- PASS MYL2 4633 broad.mit.edu 37 12 111358331 111358331 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr12:111358331C>A uc001try.3 - 1 74 c.3G>T c.(1-3)ATG>ATT p.M1I MYL2_uc001trx.3_5'Flank NM_000432 NP_000423 P10916 MLRV_HUMAN slow cardiac myosin regulatory light chain 2 1 cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis cytosol|myosin complex|sarcomere actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle ovary(1) 1 TTGTACTCACCATGGTGGAAA 0.597 35 157 --- --- --- --- PASS RPLP0 6175 broad.mit.edu 37 12 120637225 120637225 + Missense_Mutation SNP T A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr12:120637225T>A uc001txp.2 - 3 355 c.118A>T c.(118-120)ATG>TTG p.M40L RPLP0_uc001txq.2_Missense_Mutation_p.M40L|RPLP0_uc001txr.2_Missense_Mutation_p.M40L|uc001txs.1_5'Flank NM_053275 NP_444505 P05388 RLA0_HUMAN ribosomal protein P0 40 endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleus protein binding|RNA binding|structural constituent of ribosome ovary(1) 1 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) ATCTGCTGCATCTGCTTGGAG 0.517 35 115 --- --- --- --- PASS RPLP0 6175 broad.mit.edu 37 12 120637226 120637226 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr12:120637226C>A uc001txp.2 - 3 354 c.117G>T c.(115-117)CAG>CAT p.Q39H RPLP0_uc001txq.2_Missense_Mutation_p.Q39H|RPLP0_uc001txr.2_Missense_Mutation_p.Q39H|uc001txs.1_5'Flank NM_053275 NP_444505 P05388 RLA0_HUMAN ribosomal protein P0 39 endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleus protein binding|RNA binding|structural constituent of ribosome ovary(1) 1 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TCTGCTGCATCTGCTTGGAGC 0.512 34 116 --- --- --- --- PASS ANAPC5 51433 broad.mit.edu 37 12 121766123 121766123 + Missense_Mutation SNP G A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr12:121766123G>A uc001uag.2 - 10 1422 c.1300C>T c.(1300-1302)CGC>TGC p.R434C ANAPC5_uc010szu.1_Missense_Mutation_p.R100C|ANAPC5_uc001uae.2_5'UTR|ANAPC5_uc010szv.1_Missense_Mutation_p.R36C|ANAPC5_uc001uaf.2_RNA|ANAPC5_uc001uah.2_Missense_Mutation_p.R322C|ANAPC5_uc001uai.1_Missense_Mutation_p.R36C NM_016237 NP_057321 Q9UJX4 APC5_HUMAN anaphase-promoting complex subunit 5 isoform a 434 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity skin(3)|breast(2)|kidney(1) 6 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) ACCTACCTGCGGCCATACAGC 0.527 20 88 --- --- --- --- PASS TCTN2 79867 broad.mit.edu 37 12 124156062 124156062 + Missense_Mutation SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr12:124156062C>T uc001ufp.2 + 2 219 c.91C>T c.(91-93)CCT>TCT p.P31S TCTN2_uc009zya.2_Missense_Mutation_p.P31S NM_024809 NP_079085 Q96GX1 TECT2_HUMAN tectonic family member 2 isoform 1 31 Extracellular (Potential). cilium assembly|smoothened signaling pathway integral to membrane ovary(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451) AGCTTTCATCCCTCCTTTTAT 0.617 29 116 --- --- --- --- PASS TMEM132D 121256 broad.mit.edu 37 12 129558905 129558905 + Missense_Mutation SNP C G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr12:129558905C>G uc009zyl.1 - 9 3143 c.2815G>C c.(2815-2817)GTG>CTG p.V939L TMEM132D_uc001uia.2_Missense_Mutation_p.V477L NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 939 Cytoplasmic (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) GCAAAGGTCACACAGTTTATC 0.463 46 124 --- --- --- --- PASS FLT1 2321 broad.mit.edu 37 13 28971177 28971177 + Missense_Mutation SNP G A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr13:28971177G>A uc001usb.3 - 12 1865 c.1580C>T c.(1579-1581)TCT>TTT p.S527F FLT1_uc010aar.1_Missense_Mutation_p.S527F|FLT1_uc001usc.3_Missense_Mutation_p.S527F|FLT1_uc010aas.1_RNA|FLT1_uc010aat.1_Missense_Mutation_p.S10F NM_002019 NP_002010 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 isoform 1 527 Ig-like C2-type 5.|Extracellular (Potential). cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) AGAAATTCTAGAGTCAGCCAC 0.398 33 38 --- --- --- --- PASS CYSLTR2 57105 broad.mit.edu 37 13 49281473 49281473 + Silent SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr13:49281473C>T uc010acx.1 + 6 1203 c.520C>T c.(520-522)CTG>TTG p.L174L CYSLTR2_uc010acy.1_Silent_p.L174L|CYSLTR2_uc010acz.1_Silent_p.L174L|CYSLTR2_uc010ada.1_Silent_p.L174L|CYSLTR2_uc010adb.1_Silent_p.L174L|CYSLTR2_uc010adc.1_Silent_p.L174L|CYSLTR2_uc010add.1_Silent_p.L174L|CYSLTR2_uc010acw.1_Silent_p.L174L|CYSLTR2_uc001vck.2_Silent_p.L174L NM_020377 NP_065110 Q9NS75 CLTR2_HUMAN cysteinyl leukotriene receptor 2 174 Helical; Name=4; (Potential). immune response integral to membrane|plasma membrane lung(2) 2 all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787) GBM - Glioblastoma multiforme(99;1.19e-09) Nedocromil(DB00716) AATAATGCTCCTGGACAGTGG 0.483 62 147 --- --- --- --- PASS OLFM4 10562 broad.mit.edu 37 13 53608502 53608502 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr13:53608502G>T uc001vhl.2 + 2 224 c.224G>T c.(223-225)GGC>GTC p.G75V OLFM4_uc001vhk.1_Missense_Mutation_p.G75V NM_006418 NP_006409 Q6UX06 OLFM4_HUMAN olfactomedin 4 precursor 75 cell adhesion extracellular space skin(1) 1 Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.13e-08) AATTTCACCGGCTCCGTGGAT 0.478 18 76 --- --- --- --- PASS PCDH17 27253 broad.mit.edu 37 13 58299162 58299162 + Missense_Mutation SNP T G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr13:58299162T>G uc001vhq.1 + 4 4106 c.3214T>G c.(3214-3216)TTG>GTG p.L1072V PCDH17_uc010aec.1_Missense_Mutation_p.L1071V|PCDH17_uc001vhr.1_Missense_Mutation_p.L161V NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 1072 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CAGTCAGTACTTGCCCACTGA 0.532 8 213 --- --- --- --- PASS LMO7 4008 broad.mit.edu 37 13 76301206 76301206 + Missense_Mutation SNP A G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr13:76301206A>G uc010thv.1 + 4 1598 c.338A>G c.(337-339)AAT>AGT p.N113S LMO7_uc001vjt.1_Missense_Mutation_p.N61S NM_005358 NP_005349 Q8WWI1 LMO7_HUMAN LIM domain only 7 isoform 1 113 CH. cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding large_intestine(2)|ovary(1)|prostate(1)|skin(1) 5 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) AAGAAGATCAATAGACTGTCT 0.318 22 73 --- --- --- --- PASS KCTD12 115207 broad.mit.edu 37 13 77460056 77460056 + Missense_Mutation SNP G C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr13:77460056G>C uc010aeu.1 - 1 485 c.228C>G c.(226-228)AGC>AGG p.S76R KCTD12_uc001vka.1_Missense_Mutation_p.S76R NM_138444 NP_612453 Q96CX2 KCD12_HUMAN potassium channel tetramerisation domain 76 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity ovary(1) 1 Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.0499) AGCGGCCTTTGCTGTCCCGGG 0.657 9 23 --- --- --- --- PASS SCEL 8796 broad.mit.edu 37 13 78177239 78177239 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr13:78177239G>T uc001vki.2 + 18 1236 c.1066G>T c.(1066-1068)GTA>TTA p.V356L SCEL_uc001vkj.2_Missense_Mutation_p.V336L|SCEL_uc010thx.1_Missense_Mutation_p.V334L NM_144777 NP_659001 O95171 SCEL_HUMAN sciellin isoform 1 356 16 X approximate tandem repeats.|6. embryo development|keratinocyte differentiation cornified envelope|cytoplasm|membrane protein binding|zinc ion binding ovary(4)|breast(1) 5 Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0233) TGCTACTGAAGTAAATCCCAA 0.284 36 80 --- --- --- --- PASS RBM26 64062 broad.mit.edu 37 13 79940805 79940805 + Silent SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr13:79940805C>T uc001vkz.2 - 7 1112 c.1098G>A c.(1096-1098)CCG>CCA p.P366P RBM26_uc001vky.2_Silent_p.P366P|RBM26_uc001vla.2_Silent_p.P366P|RBM26_uc001vkx.2_Silent_p.P78P|RBM26_uc001vlb.1_RNA NM_022118 NP_071401 Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 366 Pro-rich. mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) ATGGACCTGGCGGTGGTACTG 0.498 34 79 --- --- --- --- PASS FARP1 10160 broad.mit.edu 37 13 99099054 99099054 + Silent SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr13:99099054C>T uc001vnj.2 + 26 3375 c.3039C>T c.(3037-3039)AGC>AGT p.S1013S FARP1_uc001vnh.2_Silent_p.S1044S NM_005766 NP_005757 Q9Y4F1 FARP1_HUMAN FERM, RhoGEF, and pleckstrin domain protein 1 1013 PH 2. regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(2) 2 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) GGGCGGAAAGCGAGTACACGT 0.552 43 126 --- --- --- --- PASS NALCN 259232 broad.mit.edu 37 13 101707828 101707828 + Missense_Mutation SNP A T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr13:101707828A>T uc001vox.1 - 44 5225 c.5036T>A c.(5035-5037)ATA>AAA p.I1679K NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 1679 Cytoplasmic (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TGAATGGCTTATTGGTTTTGG 0.458 62 301 --- --- --- --- PASS NALCN 259232 broad.mit.edu 37 13 101881753 101881753 + Silent SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr13:101881753C>A uc001vox.1 - 13 1806 c.1617G>T c.(1615-1617)ACG>ACT p.T539T NALCN_uc001voy.2_Silent_p.T254T|NALCN_uc001voz.2_Silent_p.T539T|NALCN_uc001vpa.2_Silent_p.T539T NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 539 Extracellular (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) CCCTCGGAAACGTAGTAAATC 0.328 62 224 --- --- --- --- PASS ERCC5 2073 broad.mit.edu 37 13 103520492 103520492 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr13:103520492G>T uc001vpw.2 + 12 3006 c.2563G>T c.(2563-2565)GCT>TCT p.A855S ERCC5_uc001vpu.1_Missense_Mutation_p.A1309S|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_Missense_Mutation_p.A687S NM_000123 NP_000114 P28715 ERCC5_HUMAN XPG-complementing protein 855 I-domain. negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection nucleoplasm bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding ovary(4)|lung(1)|central_nervous_system(1)|skin(1) 7 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) AATAAATTTGGCTTATTTGCT 0.299 Mis|N|F skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 45 140 --- --- --- --- PASS LIG4 3981 broad.mit.edu 37 13 108861015 108861015 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr13:108861015C>A uc001vqn.2 - 2 2875 c.2602G>T c.(2602-2604)GAT>TAT p.D868Y LIG4_uc001vqo.2_Missense_Mutation_p.D868Y|LIG4_uc010agg.1_Missense_Mutation_p.D801Y|LIG4_uc010agf.2_Missense_Mutation_p.D868Y|LIG4_uc001vqp.2_Missense_Mutation_p.D868Y NM_002312 NP_002303 P49917 DNLI4_HUMAN DNA ligase IV 868 BRCT 2. cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding 0 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) CGACTATGATCTTCCCCAATT 0.368 NHEJ 22 125 --- --- --- --- PASS ATP4B 496 broad.mit.edu 37 13 114312455 114312455 + Missense_Mutation SNP G C C rs139992135 TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr13:114312455G>C uc001vtz.2 - 1 47 c.5C>G c.(4-6)GCG>GGG p.A2G ATP4B_uc010agy.1_Missense_Mutation_p.A2G NM_000705 NP_000696 P51164 ATP4B_HUMAN hydrogen/potassium-exchanging ATPase 4B 2 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane|plasma membrane hydrogen:potassium-exchanging ATPase activity|sodium:potassium-exchanging ATPase activity ovary(1) 1 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839) all cancers(43;0.171) Rabeprazole(DB01129) CTGCAGAGCCGCCATCGTCCC 0.637 9 14 --- --- --- --- PASS POTEG 404785 broad.mit.edu 37 14 19573144 19573144 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr14:19573144G>T uc001vuz.1 + 8 1294 c.1242G>T c.(1240-1242)AAG>AAT p.K414N POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA NM_001005356 NP_001005356 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 414 ovary(1) 1 GTGATAGAAAGGTATACTTTT 0.318 9 87 --- --- --- --- PASS SALL2 6297 broad.mit.edu 37 14 21993777 21993777 + Nonsense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr14:21993777C>A uc001wbe.2 - 2 367 c.85G>T c.(85-87)GAG>TAG p.E29* SALL2_uc010tly.1_Nonsense_Mutation_p.E27*|SALL2_uc010tlz.1_Nonsense_Mutation_p.E27*|SALL2_uc001wbf.3_Nonsense_Mutation_p.E27*|SALL2_uc010tma.1_Nonsense_Mutation_p.E29*|SALL2_uc001wbg.1_Nonsense_Mutation_p.E29* NM_005407 NP_005398 Q9Y467 SALL2_HUMAN sal-like 2 29 DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|large_intestine(1) 3 all_cancers(95;0.000662) GBM - Glioblastoma multiforme(265;0.0151) TGATCCTCCTCGCTAGCATCA 0.557 9 72 --- --- --- --- PASS LRRC16B 90668 broad.mit.edu 37 14 24523975 24523975 + Missense_Mutation SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr14:24523975C>T uc001wlj.2 + 6 575 c.418C>T c.(418-420)CCC>TCC p.P140S NM_138360 NP_612369 Q8ND23 LR16B_HUMAN leucine rich repeat containing 16B 140 ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(265;0.019) AGATACATCCCCCAACTCTGA 0.562 22 101 --- --- --- --- PASS GZMB 3002 broad.mit.edu 37 14 25102258 25102258 + Silent SNP G A A rs139103546 TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr14:25102258G>A uc001wps.2 - 2 132 c.66C>T c.(64-66)ATC>ATT p.I22I GZMB_uc010ama.2_Silent_p.I10I|GZMB_uc010amb.2_RNA NM_004131 NP_004122 P10144 GRAB_HUMAN granzyme B precursor 22 Peptidase S1. activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals cytosol|immunological synapse|nucleus protein binding|serine-type endopeptidase activity 0 GBM - Glioblastoma multiforme(265;0.028) CATGTCCCCCGATGATCTCCC 0.567 47 264 --- --- --- --- PASS STRN3 29966 broad.mit.edu 37 14 31376206 31376206 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr14:31376206C>A uc001wqu.2 - 14 1981 c.1765G>T c.(1765-1767)GTT>TTT p.V589F STRN3_uc001wqv.2_Missense_Mutation_p.V505F|STRN3_uc010tpj.1_RNA NM_001083893 NP_001077362 Q13033 STRN3_HUMAN nuclear autoantigen isoform 1 589 WD 3. negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity 0 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.0124) AGACCCCAAACTGCATCTGTA 0.353 43 146 --- --- --- --- PASS FSCB 84075 broad.mit.edu 37 14 44976081 44976081 + Missense_Mutation SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr14:44976081C>T uc001wvn.2 - 1 419 c.110G>A c.(109-111)AGC>AAC p.S37N NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 37 cilium lung(3)|breast(3)|ovary(2)|central_nervous_system(1) 9 GBM - Glioblastoma multiforme(112;0.128) GCTGCCTTTGCTTCCAGAAGT 0.413 51 326 --- --- --- --- PASS KLHL28 54813 broad.mit.edu 37 14 45414769 45414769 + Silent SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr14:45414769C>A uc001wvq.2 - 2 609 c.363G>T c.(361-363)CTG>CTT p.L121L KLHL28_uc001wvr.2_Silent_p.L121L|KLHL28_uc001wvt.3_Silent_p.L121L NM_017658 NP_060128 Q9NXS3 KLH28_HUMAN BTB (POZ) domain containing 5 121 ovary(1) 1 AACATTCTTTCAGGACAAGTT 0.408 26 103 --- --- --- --- PASS RPL10L 140801 broad.mit.edu 37 14 47120628 47120628 + Silent SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr14:47120628G>T uc001wwg.2 - 1 401 c.312C>A c.(310-312)TCC>TCA p.S104S NM_080746 NP_542784 Q96L21 RL10L_HUMAN ribosomal protein L10-like protein 104 spermatogenesis|translation cytosolic large ribosomal subunit|nucleus structural constituent of ribosome ovary(1) 1 CCCCAGCACAGGACAACATCT 0.532 27 100 --- --- --- --- PASS RPL10L 140801 broad.mit.edu 37 14 47120629 47120629 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr14:47120629G>T uc001wwg.2 - 1 400 c.311C>A c.(310-312)TCC>TAC p.S104Y NM_080746 NP_542784 Q96L21 RL10L_HUMAN ribosomal protein L10-like protein 104 spermatogenesis|translation cytosolic large ribosomal subunit|nucleus structural constituent of ribosome ovary(1) 1 CCCAGCACAGGACAACATCTT 0.532 27 100 --- --- --- --- PASS PPIL5 122769 broad.mit.edu 37 14 50065836 50065836 + Missense_Mutation SNP G A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr14:50065836G>A uc001wwn.2 + 1 422 c.98G>A c.(97-99)TGT>TAT p.C33Y SDCCAG1_uc010anj.1_Intron|PPIL5_uc001wwo.2_Missense_Mutation_p.C33Y|PPIL5_uc010ank.2_5'UTR|PPIL5_uc001wwp.2_RNA NM_152329 NP_689542 Q96L50 LLR1_HUMAN peptidylprolyl isomerase (cyclophilin)-like 5 33 0 all_epithelial(31;0.0021)|Breast(41;0.0124) TTGAGCCTCTGTCAGCAGACT 0.637 3 19 --- --- --- --- PASS DACT1 51339 broad.mit.edu 37 14 59112428 59112428 + Missense_Mutation SNP A T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr14:59112428A>T uc001xdw.2 + 4 1251 c.1087A>T c.(1087-1089)AAC>TAC p.N363Y DACT1_uc010trv.1_Missense_Mutation_p.N82Y|DACT1_uc001xdx.2_Missense_Mutation_p.N326Y|DACT1_uc010trw.1_Missense_Mutation_p.N82Y NM_016651 NP_057735 Q9NYF0 DACT1_HUMAN dapper 1 isoform 1 363 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus large_intestine(2)|lung(2)|ovary(1) 5 AACCAGCGTGAACGCTGACCC 0.517 14 76 --- --- --- --- PASS ZFYVE26 23503 broad.mit.edu 37 14 68265178 68265178 + Nonsense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr14:68265178C>A uc001xka.2 - 11 1940 c.1801G>T c.(1801-1803)GAG>TAG p.E601* ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Nonsense_Mutation_p.E601*|ZFYVE26_uc010tta.1_Nonsense_Mutation_p.E601* NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 601 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding ovary(9)|breast(2) 11 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) TCATCATCCTCAGCATAGTCC 0.522 27 109 --- --- --- --- PASS ZFYVE26 23503 broad.mit.edu 37 14 68268906 68268906 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr14:68268906G>T uc001xka.2 - 10 1668 c.1529C>A c.(1528-1530)GCC>GAC p.A510D ZFYVE26_uc010tsz.1_Intron|ZFYVE26_uc001xkc.3_Missense_Mutation_p.A510D|ZFYVE26_uc010tta.1_Missense_Mutation_p.A510D NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 510 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding ovary(9)|breast(2) 11 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) TACACAGAGGGCATAGATGGC 0.542 39 217 --- --- --- --- PASS C14orf115 55237 broad.mit.edu 37 14 74824129 74824129 + Missense_Mutation SNP C A A rs142400429 byFrequency TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr14:74824129C>A uc001xpw.3 + 2 834 c.643C>A c.(643-645)CCC>ACC p.P215T NM_018228 NP_060698 Q9H8Y1 VRTN_HUMAN hypothetical protein LOC55237 215 transposition, DNA-mediated DNA binding|transposase activity 0 BRCA - Breast invasive adenocarcinoma(234;0.00147) CGACCACGTGCCCTCCACGCT 0.637 14 88 --- --- --- --- PASS KIAA0317 9870 broad.mit.edu 37 14 75143291 75143291 + Missense_Mutation SNP G C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr14:75143291G>C uc001xqb.2 - 6 1151 c.646C>G c.(646-648)CAT>GAT p.H216D KIAA0317_uc010tut.1_Missense_Mutation_p.H55D|KIAA0317_uc001xqc.2_Missense_Mutation_p.H216D NM_001039479 NP_001034568 O15033 K0317_HUMAN hypothetical protein LOC9870 216 protein ubiquitination involved in ubiquitin-dependent protein catabolic process integral to membrane|intracellular ubiquitin-protein ligase activity ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(234;0.00404) CTTACCTCATGAATGGACAAG 0.453 51 142 --- --- --- --- PASS FAM164C 79696 broad.mit.edu 37 14 75537471 75537471 + Silent SNP G A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr14:75537471G>A uc001xri.2 + 2 368 c.195G>A c.(193-195)CTG>CTA p.L65L FAM164C_uc001xrh.2_Silent_p.L65L NM_001042430 NP_001035895 Q53FD0 F164C_HUMAN chromosome 14 open reading frame 140 isoform b 65 ovary(1) 1 AGTTGATTCTGGATAAAGTCT 0.473 110 276 --- --- --- --- PASS GPR65 8477 broad.mit.edu 37 14 88477477 88477477 + Missense_Mutation SNP A C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr14:88477477A>C uc001xvv.2 + 2 816 c.286A>C c.(286-288)ATG>CTG p.M96L NM_003608 NP_003599 Q8IYL9 PSYR_HUMAN G protein-coupled receptor 65 96 Helical; Name=3; (Potential). actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity integral to plasma membrane G-protein coupled receptor activity 0 TCTCATGTACATGAATTTTTA 0.413 132 375 --- --- --- --- PASS KCNK10 54207 broad.mit.edu 37 14 88729855 88729855 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr14:88729855G>T uc001xwo.2 - 2 535 c.78C>A c.(76-78)AGC>AGA p.S26R KCNK10_uc001xwm.2_Missense_Mutation_p.S31R|KCNK10_uc001xwn.2_Missense_Mutation_p.S31R NM_021161 NP_066984 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 26 Cytoplasmic (Potential). signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity ovary(2)|skin(2)|pancreas(1) 5 CGTTAGTGGCGCTCTTGGGCT 0.592 37 121 --- --- --- --- PASS SLC24A4 123041 broad.mit.edu 37 14 92908488 92908488 + Nonsense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr14:92908488C>A uc001yak.2 + 5 422 c.398C>A c.(397-399)TCA>TAA p.S133* SLC24A4_uc001yai.2_Nonsense_Mutation_p.S86*|SLC24A4_uc010twm.1_Nonsense_Mutation_p.S150*|SLC24A4_uc001yaj.2_Nonsense_Mutation_p.S133*|SLC24A4_uc010auj.2_Nonsense_Mutation_p.S41*|SLC24A4_uc010twn.1_5'Flank NM_153646 NP_705932 Q8NFF2 NCKX4_HUMAN solute carrier family 24 member 4 isoform 1 150 Cytoplasmic (Potential).|Alpha-1. integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(2)|ovary(1) 3 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) GCAGGAAGCTCAACGCCAGAG 0.557 12 100 --- --- --- --- PASS TCL1B 9623 broad.mit.edu 37 14 96152930 96152930 + Silent SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr14:96152930G>T uc001yez.2 + 1 168 c.126G>T c.(124-126)TCG>TCT p.S42S TCL1B_uc001yew.2_Intron|TCL1B_uc001yex.2_Intron|TCL1B_uc010avj.2_Intron|TCL1B_uc001yfa.2_Silent_p.S42S NM_004918 NP_004909 O95988 TCL1B_HUMAN T-cell leukemia/lymphoma 1B 42 ovary(1) 1 all_cancers(154;0.103) COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248) TCAATCCCTCGCGTAGGGAAT 0.667 14 70 --- --- --- --- PASS ATG2B 55102 broad.mit.edu 37 14 96769593 96769593 + Splice_Site SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr14:96769593C>A uc001yfi.2 - 33 5208 c.4843_splice c.e33-1 p.V1615_splice NM_018036 NP_060506 Q96BY7 ATG2B_HUMAN ATG2 autophagy related 2 homolog B ovary(1)|kidney(1)|skin(1) 3 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) GAAACTTCACCTTAACGGGTA 0.418 14 122 --- --- --- --- PASS DYNC1H1 1778 broad.mit.edu 37 14 102472281 102472281 + Silent SNP T C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr14:102472281T>C uc001yks.2 + 27 5654 c.5490T>C c.(5488-5490)ATT>ATC p.I1830I NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 1830 Stem (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 AAAGCAAGATTGACAACGCCA 0.388 53 297 --- --- --- --- PASS MARK3 4140 broad.mit.edu 37 14 103941431 103941431 + Missense_Mutation SNP A G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr14:103941431A>G uc001ymz.3 + 13 2032 c.1366A>G c.(1366-1368)AGT>GGT p.S456G MARK3_uc001ymx.3_Missense_Mutation_p.S456G|MARK3_uc001ymw.3_Missense_Mutation_p.S456G|MARK3_uc001yna.3_Missense_Mutation_p.S440G|MARK3_uc001ymy.3_Missense_Mutation_p.S377G|MARK3_uc010awp.2_Missense_Mutation_p.S479G|MARK3_uc010tyb.1_Missense_Mutation_p.S251G|MARK3_uc010awq.2_5'UTR NM_001128918 NP_001122390 P27448 MARK3_HUMAN MAP/microtubule affinity-regulating kinase 3 456 S -> T (in Ref. 5; AAA59991). ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(2)|ovary(1)|stomach(1) 4 Melanoma(154;0.155) Epithelial(46;0.241) CCGGAAATCAAGTGGCAGTGC 0.483 9 68 --- --- --- --- PASS BRF1 2972 broad.mit.edu 37 14 105739131 105739131 + Silent SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr14:105739131C>A uc001yqp.2 - 3 729 c.366G>T c.(364-366)CTG>CTT p.L122L BRF1_uc010tyo.1_Silent_p.L7L|BRF1_uc010typ.1_Silent_p.L7L|BRF1_uc010axg.1_Silent_p.L95L|BRF1_uc001yqr.2_Silent_p.L122L NM_001519 NP_001510 Q92994 TF3B_HUMAN transcription initiation factor IIIB isoform 1 122 1. positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription transcription factor TFIIIB complex translation initiation factor activity|zinc ion binding large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221) Epithelial(152;0.14) GGCCGCGGGTCAGGTGCCTGC 0.637 52 82 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106173663 106173663 + RNA SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr14:106173663C>T uc010tyt.1 - 3633 c.60235G>A uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001ysc.2_5'Flank Parts of antibodies, mostly variable regions. 0 CAGTCCTCGGCTGCCACGCGC 0.652 10 77 --- --- --- --- PASS MKRN3 7681 broad.mit.edu 37 15 23812394 23812394 + Nonsense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr15:23812394G>T uc001ywh.3 + 1 1941 c.1465G>T c.(1465-1467)GAG>TAG p.E489* MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Intron NM_005664 NP_005655 Q13064 MKRN3_HUMAN makorin ring finger protein 3 489 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding lung(6)|large_intestine(2)|ovary(2) 10 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) ACCCTTCTCTGAGGACCAGTG 0.453 48 229 --- --- --- --- PASS UBE3A 7337 broad.mit.edu 37 15 25650618 25650618 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr15:25650618C>A uc001zaq.2 - 2 61 c.61G>T c.(61-63)GCT>TCT p.A21S UBE3A_uc001zar.2_5'UTR|UBE3A_uc001zas.2_Missense_Mutation_p.A18S|UBE3A_uc001zat.2_5'UTR|UBE3A_uc001zau.1_RNA NM_000462 NP_000453 Q05086 UBE3A_HUMAN ubiquitin protein ligase E3A isoform 2 21 brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity upper_aerodigestive_tract(1)|ovary(1)|breast(1) 3 all_cancers(20;3.47e-21)|Breast(32;0.00123) all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616) ATTCGGCTAGCTTCAATGTCG 0.348 33 154 --- --- --- --- PASS TJP1 7082 broad.mit.edu 37 15 29993840 29993840 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr15:29993840C>A uc001zcr.2 - 28 5681 c.5206G>T c.(5206-5208)GTT>TTT p.V1736F TJP1_uc010azl.2_Missense_Mutation_p.V1744F|TJP1_uc001zcq.2_Missense_Mutation_p.V1680F|TJP1_uc001zcs.2_Missense_Mutation_p.V1656F NM_003257 NP_003248 Q07157 ZO1_HUMAN tight junction protein 1 isoform a 1736 cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction ovary(4)|central_nervous_system(1)|pancreas(1) 6 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) TTTGCTCCAACGAGATAATTT 0.348 24 91 --- --- --- --- PASS ACTC1 70 broad.mit.edu 37 15 35085701 35085701 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr15:35085701G>T uc001ziu.1 - 3 442 c.199C>A c.(199-201)CTG>ATG p.L67M uc001zit.1_Intron NM_005159 NP_005150 P68032 ACTC_HUMAN cardiac muscle alpha actin 1 proprotein 67 apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly actomyosin, actin part|cytosol|I band ATP binding|ATPase activity|myosin binding upper_aerodigestive_tract(1)|ovary(1) 2 all_lung(180;2.3e-08) all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244) TTCAGGGTCAGGATGCCTCTC 0.498 44 71 --- --- --- --- PASS EIF2AK4 440275 broad.mit.edu 37 15 40308761 40308761 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr15:40308761C>A uc001zkm.1 + 28 3868 c.3818C>A c.(3817-3819)ACA>AAA p.T1273K EIF2AK4_uc010bbj.1_Missense_Mutation_p.T974K|EIF2AK4_uc001zkn.1_Missense_Mutation_p.T373K|EIF2AK4_uc001zko.1_Intron|EIF2AK4_uc010bbk.1_RNA NM_001013703 NP_001013725 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha 1273 Histidyl-tRNA synthetase-like. translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity lung(2)|stomach(1)|skin(1) 4 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) CTTATGCCAACAATAAATTCA 0.428 4 122 --- --- --- --- PASS BUB1B 701 broad.mit.edu 37 15 40462291 40462291 + Missense_Mutation SNP A T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr15:40462291A>T uc001zkx.3 + 3 420 c.208A>T c.(208-210)ACT>TCT p.T70S NM_001211 NP_001202 O60566 BUB1B_HUMAN budding uninhibited by benzimidazoles 1 beta 70 BUB1 N-terminal. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone ATP binding|protein binding|protein serine/threonine kinase activity stomach(2)|ovary(1)|kidney(1) 4 all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556) TCGATTTTACACTGGAAATGA 0.353 Mis|N|F|S rhabdomyosarcoma Mosaic_Variegated_Aneuploidy_Syndrome 45 104 --- --- --- --- PASS ATP8B4 79895 broad.mit.edu 37 15 50264859 50264859 + Missense_Mutation SNP T A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr15:50264859T>A uc001zxu.2 - 13 1305 c.1163A>T c.(1162-1164)TAC>TTC p.Y388F ATP8B4_uc010ber.2_Missense_Mutation_p.Y261F|ATP8B4_uc010ufd.1_Missense_Mutation_p.Y261F|ATP8B4_uc010ufe.1_RNA NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN ATPase class I type 8B member 4 388 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 skin(3)|ovary(2)|breast(2)|large_intestine(1) 8 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) GGAGAAAATGTACTCAATCTG 0.413 24 71 --- --- --- --- PASS ONECUT1 3175 broad.mit.edu 37 15 53049925 53049925 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr15:53049925G>T uc002aci.1 - 2 1353 c.1225C>A c.(1225-1227)CGT>AGT p.R409S NM_004498 NP_004489 Q9UBC0 HNF6_HUMAN one cut homeobox 1 409 Homeobox. endocrine pancreas development nucleus RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding 0 all cancers(107;0.0708) TTGGATGGACGCTTATTTTCC 0.478 79 188 --- --- --- --- PASS ISLR 3671 broad.mit.edu 37 15 74468267 74468267 + Silent SNP G A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr15:74468267G>A uc002axg.1 + 2 1350 c.1068G>A c.(1066-1068)GGG>GGA p.G356G ISLR_uc002axh.1_Silent_p.G356G NM_005545 NP_005536 O14498 ISLR_HUMAN immunoglobulin superfamily containing 356 cell adhesion extracellular region large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 ACACACTGGGGCGCAGGTTCC 0.617 3 36 --- --- --- --- PASS LINGO1 84894 broad.mit.edu 37 15 77906817 77906817 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr15:77906817G>T uc002bct.1 - 2 1484 c.1432C>A c.(1432-1434)CCT>ACT p.P478T LINGO1_uc002bcu.1_Missense_Mutation_p.P472T NM_032808 NP_116197 Q96FE5 LIGO1_HUMAN leucine-rich repeat neuronal 6A 478 Extracellular (Potential).|Ig-like C2-type. negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane ovary(1)|lung(1) 2 GTGCCATCAGGGAAGACTGTG 0.677 8 21 --- --- --- --- PASS ZNF592 9640 broad.mit.edu 37 15 85326964 85326964 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr15:85326964G>T uc002bld.2 + 4 1394 c.1058G>T c.(1057-1059)TGC>TTC p.C353F ZNF592_uc010upb.1_RNA NM_014630 NP_055445 Q92610 ZN592_HUMAN zinc finger protein 592 353 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(143;0.0587) CGTAGCATCTGCAGTGACAGC 0.532 50 100 --- --- --- --- PASS KIAA0430 9665 broad.mit.edu 37 16 15729647 15729647 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr16:15729647C>A uc002ddr.2 - 3 890 c.697G>T c.(697-699)GCT>TCT p.A233S KIAA0430_uc002ddq.2_Missense_Mutation_p.A232S|KIAA0430_uc010uzv.1_Missense_Mutation_p.A232S|KIAA0430_uc010uzw.1_Missense_Mutation_p.A232S|KIAA0430_uc010uzx.1_Missense_Mutation_p.A232S NM_014647 NP_055462 Q9Y4F3 LKAP_HUMAN limkain b1 232 peroxisome nucleotide binding|RNA binding 0 TGCCCTGGAGCCCCGCTTGTG 0.512 36 62 --- --- --- --- PASS DNAH3 55567 broad.mit.edu 37 16 20996449 20996449 + Missense_Mutation SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr16:20996449C>T uc010vbe.1 - 48 7615 c.7615G>A c.(7615-7617)GAG>AAG p.E2539K DNAH3_uc010vbd.1_5'Flank NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2539 AAA 4 (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) TCAACCTTCTCTCCTTGGGTC 0.463 23 59 --- --- --- --- PASS AQP8 343 broad.mit.edu 37 16 25238398 25238398 + Silent SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr16:25238398G>T uc002doc.2 + 5 694 c.612G>T c.(610-612)GTG>GTT p.V204V NM_001169 NP_001160 O94778 AQP8_HUMAN aquaporin 8 204 Helical; (Potential). cellular response to cAMP integral to plasma membrane water channel activity upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 3 GBM - Glioblastoma multiforme(48;0.044) GGGGCCCTGTGTCTGGAGGCT 0.612 40 77 --- --- --- --- PASS KIAA0556 23247 broad.mit.edu 37 16 27733015 27733015 + Missense_Mutation SNP G C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr16:27733015G>C uc002dow.2 + 14 1766 c.1742G>C c.(1741-1743)GGC>GCC p.G581A KIAA0556_uc002dox.1_Missense_Mutation_p.G489A NM_015202 NP_056017 O60303 K0556_HUMAN hypothetical protein LOC23247 581 ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1) 8 ACAGCTGATGGCGTAAGTAAC 0.493 21 55 --- --- --- --- PASS GSG1L 146395 broad.mit.edu 37 16 27802692 27802692 + Nonstop_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr16:27802692C>A uc002doz.2 - 7 1080 c.995G>T c.(994-996)TGA>TTA p.*332L GSG1L_uc010bya.1_Nonstop_Mutation_p.*281L|GSG1L_uc010bxz.1_Nonstop_Mutation_p.*195L|GSG1L_uc002doy.2_Nonstop_Mutation_p.*177L NM_001109763 NP_001103233 Q6UXU4 GSG1L_HUMAN GSG1-like isoform 1 332 integral to membrane ovary(1) 1 AGGTCTTGGTCACACCCAGTG 0.662 13 46 --- --- --- --- PASS SPNS1 83985 broad.mit.edu 37 16 28986619 28986619 + Silent SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr16:28986619C>T uc010vdi.1 + 2 287 c.147C>T c.(145-147)CGC>CGT p.R49R uc010vct.1_Intron|SPNS1_uc002dry.2_Silent_p.R49R|SPNS1_uc002drx.2_5'UTR|SPNS1_uc002dsa.2_Silent_p.R49R|SPNS1_uc002drz.2_Silent_p.R49R|SPNS1_uc010byp.2_Silent_p.R49R|SPNS1_uc010byq.1_5'UTR NM_001142448 NP_001135920 Q9H2V7 SPNS1_HUMAN spinster homolog 1 isoform 1 49 lipid transport|transmembrane transport integral to membrane|mitochondrial inner membrane protein binding 0 GGCTGCAGCGCATCACCGGCC 0.677 5 10 --- --- --- --- PASS ITGAD 3681 broad.mit.edu 37 16 31419090 31419090 + Nonsense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr16:31419090G>T uc002ebv.1 + 9 911 c.862G>T c.(862-864)GGA>TGA p.G288* ITGAD_uc010vfl.1_Missense_Mutation_p.G320V|ITGAD_uc010cap.1_Nonsense_Mutation_p.G288*|ITGAD_uc002ebw.1_Missense_Mutation_p.G131V NM_005353 NP_005344 Q13349 ITAD_HUMAN integrin, alpha D precursor 288 Extracellular (Potential).|VWFA. cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity skin(1) 1 GCTGCAGGTGGGACACGCTTT 0.622 25 44 --- --- --- --- PASS CHD9 80205 broad.mit.edu 37 16 53326832 53326832 + Missense_Mutation SNP A T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr16:53326832A>T uc002ehb.2 + 28 5542 c.5378A>T c.(5377-5379)CAG>CTG p.Q1793L CHD9_uc002egy.2_Missense_Mutation_p.Q1793L|CHD9_uc002ehc.2_Missense_Mutation_p.Q1793L|CHD9_uc002ehf.2_Missense_Mutation_p.Q907L|CHD9_uc010cbw.2_Missense_Mutation_p.Q161L NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 1793 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1) 7 all_cancers(37;0.0212) ACTGCATACCAGCGTACTAAT 0.413 37 89 --- --- --- --- PASS CDH8 1006 broad.mit.edu 37 16 61761073 61761073 + Silent SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr16:61761073C>T uc002eog.1 - 9 1713 c.1461G>A c.(1459-1461)CTG>CTA p.L487L CDH8_uc002eoh.2_Silent_p.L256L NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein 487 Extracellular (Potential).|Cadherin 4. 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) CATTGACATCCAGCACTTTAA 0.403 77 173 --- --- --- --- PASS SLC38A8 146167 broad.mit.edu 37 16 84070480 84070480 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr16:84070480C>A uc002fhg.1 - 2 215 c.215G>T c.(214-216)GGG>GTG p.G72V NM_001080442 NP_001073911 A6NNN8 S38A8_HUMAN solute carrier family 38, member 8 72 Helical; (Potential). amino acid transport|sodium ion transport integral to membrane 0 GATGACCAGCCCGCTGATCAG 0.662 10 15 --- --- --- --- PASS SPIRE2 84501 broad.mit.edu 37 16 89924792 89924792 + Silent SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr16:89924792C>T uc002foz.1 + 8 1201 c.1149C>T c.(1147-1149)GCC>GCT p.A383A SPIRE2_uc010civ.1_Silent_p.A298A|SPIRE2_uc010ciw.1_Silent_p.A383A|SPIRE2_uc002fpa.1_Silent_p.A335A|SPIRE2_uc010cix.1_Silent_p.A250A NM_032451 NP_115827 Q8WWL2 SPIR2_HUMAN spire homolog 2 383 transport cytoplasm|cytoskeleton actin binding central_nervous_system(1) 1 Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0286) CCGGAGATGCCAAGTCCACCT 0.672 72 152 --- --- --- --- PASS MYH13 8735 broad.mit.edu 37 17 10204986 10204986 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr17:10204986C>A uc002gmk.1 - 40 5792 c.5702G>T c.(5701-5703)CGG>CTG p.R1901L NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 1901 Potential. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 CTGGACTCTCCGGCATCTGGA 0.627 49 74 --- --- --- --- PASS NCOR1 9611 broad.mit.edu 37 17 15968834 15968834 + Missense_Mutation SNP T C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr17:15968834T>C uc002gpo.2 - 33 5156 c.4916A>G c.(4915-4917)GAG>GGG p.E1639G NCOR1_uc002gpn.2_Missense_Mutation_p.E1655G|NCOR1_uc002gpm.2_Missense_Mutation_p.E159G|NCOR1_uc010vwb.1_Missense_Mutation_p.E223G|NCOR1_uc010coy.2_Missense_Mutation_p.E547G|NCOR1_uc010vwc.1_Missense_Mutation_p.E449G NM_006311 NP_006302 O75376 NCOR1_HUMAN nuclear receptor co-repressor 1 1639 Interaction with ETO.|Interaction with C1D (By similarity). cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) CAGTGGCTGCTCTCTTGGGGA 0.398 14 66 --- --- --- --- PASS NCOR1 9611 broad.mit.edu 37 17 15968835 15968835 + Nonsense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr17:15968835C>A uc002gpo.2 - 33 5155 c.4915G>T c.(4915-4917)GAG>TAG p.E1639* NCOR1_uc002gpn.2_Nonsense_Mutation_p.E1655*|NCOR1_uc002gpm.2_Nonsense_Mutation_p.E159*|NCOR1_uc010vwb.1_Nonsense_Mutation_p.E223*|NCOR1_uc010coy.2_Nonsense_Mutation_p.E547*|NCOR1_uc010vwc.1_Nonsense_Mutation_p.E449* NM_006311 NP_006302 O75376 NCOR1_HUMAN nuclear receptor co-repressor 1 1639 Interaction with ETO.|Interaction with C1D (By similarity). cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) AGTGGCTGCTCTCTTGGGGAG 0.398 14 66 --- --- --- --- PASS KCNJ12 3768 broad.mit.edu 37 17 21319036 21319036 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr17:21319036C>A uc002gyv.1 + 3 1087 c.382C>A c.(382-384)CAC>AAC p.H128N NM_021012 NP_066292 Q14500 IRK12_HUMAN potassium inwardly-rectifying channel, subfamily 128 Extracellular (By similarity). blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission integral to membrane inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity ovary(3)|skin(1) 4 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) Dofetilide(DB00204) GATGCAGGTGCACGGCTTCAT 0.657 Prostate(3;0.18) 4 29 --- --- --- --- PASS TMEM132E 124842 broad.mit.edu 37 17 32956181 32956181 + Silent SNP G C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr17:32956181G>C uc002hif.2 + 5 1354 c.1026G>C c.(1024-1026)ACG>ACC p.T342T NM_207313 NP_997196 Q6IEE7 T132E_HUMAN transmembrane protein 132E precursor 342 Extracellular (Potential). integral to membrane central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(366;0.231) CTGAGCTGACGGTCATTCAGC 0.602 8 34 --- --- --- --- PASS TMEM132E 124842 broad.mit.edu 37 17 32959860 32959860 + Silent SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr17:32959860C>T uc002hif.2 + 7 1678 c.1350C>T c.(1348-1350)CAC>CAT p.H450H NM_207313 NP_997196 Q6IEE7 T132E_HUMAN transmembrane protein 132E precursor 450 Extracellular (Potential). integral to membrane central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(366;0.231) TGCCCTTGCACATTGAGCTCT 0.607 68 217 --- --- --- --- PASS SLFN5 162394 broad.mit.edu 37 17 33586457 33586457 + Missense_Mutation SNP A T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr17:33586457A>T uc002hjf.3 + 2 865 c.748A>T c.(748-750)AGC>TGC p.S250C SLFN5_uc002hje.2_Missense_Mutation_p.S250C|SLFN5_uc010wcg.1_Missense_Mutation_p.S250C NM_144975 NP_659412 Q08AF3 SLFN5_HUMAN schlafen family member 5 250 cell differentiation ATP binding ovary(1)|central_nervous_system(1)|skin(1) 3 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0191) AGACCTTACGAGCTTGAGGGC 0.388 63 175 --- --- --- --- PASS KIF2B 84643 broad.mit.edu 37 17 51901108 51901108 + Silent SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr17:51901108C>A uc002iua.2 + 1 870 c.714C>A c.(712-714)GTC>GTA p.V238V uc010wna.1_Intron NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 238 Kinesin-motor. blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 TCATCACCGTCCCCTCGGACA 0.557 19 56 --- --- --- --- PASS CCDC137 339230 broad.mit.edu 37 17 79639558 79639558 + Missense_Mutation SNP C G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr17:79639558C>G uc002kbc.3 + 6 730 c.694C>G c.(694-696)CTG>GTG p.L232V CCDC137_uc002kbd.2_RNA NM_199287 NP_954981 Q6PK04 CC137_HUMAN coiled-coil domain containing 137 232 central_nervous_system(1) 1 all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) GCGGATGCTTCTGAGCCCCGG 0.652 3 6 --- --- --- --- PASS DLGAP1 9229 broad.mit.edu 37 18 3582091 3582091 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr18:3582091G>T uc002kmf.2 - 5 1814 c.1747C>A c.(1747-1749)CAG>AAG p.Q583K DLGAP1_uc010wyz.1_Missense_Mutation_p.Q583K|DLGAP1_uc002kme.1_Missense_Mutation_p.Q281K|DLGAP1_uc010dkn.2_Missense_Mutation_p.Q291K|DLGAP1_uc010wyw.1_Missense_Mutation_p.Q289K|DLGAP1_uc010wyx.1_Missense_Mutation_p.Q305K|DLGAP1_uc010wyy.1_Missense_Mutation_p.Q267K|DLGAP1_uc002kmg.2_Missense_Mutation_p.Q281K NM_004746 NP_004737 O14490 DLGP1_HUMAN discs large homolog-associated protein 1 isoform 583 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane ovary(2)|pancreas(1)|skin(1) 4 Colorectal(8;0.0257) AGTCCAGACTGGCTGATAATA 0.557 47 102 --- --- --- --- PASS DLGAP1 9229 broad.mit.edu 37 18 3582092 3582092 + Silent SNP G A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr18:3582092G>A uc002kmf.2 - 5 1813 c.1746C>T c.(1744-1746)AGC>AGT p.S582S DLGAP1_uc010wyz.1_Silent_p.S582S|DLGAP1_uc002kme.1_Silent_p.S280S|DLGAP1_uc010dkn.2_Silent_p.S290S|DLGAP1_uc010wyw.1_Silent_p.S288S|DLGAP1_uc010wyx.1_Silent_p.S304S|DLGAP1_uc010wyy.1_Silent_p.S266S|DLGAP1_uc002kmg.2_Silent_p.S280S NM_004746 NP_004737 O14490 DLGP1_HUMAN discs large homolog-associated protein 1 isoform 582 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane ovary(2)|pancreas(1)|skin(1) 4 Colorectal(8;0.0257) GTCCAGACTGGCTGATAATAT 0.562 48 103 --- --- --- --- PASS KCTD1 284252 broad.mit.edu 37 18 24056539 24056539 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr18:24056539C>A uc002kvw.2 - 3 809 c.249G>T c.(247-249)ATG>ATT p.M83I KCTD1_uc010xbj.1_Missense_Mutation_p.M691I|KCTD1_uc010xbk.1_Missense_Mutation_p.M83I|KCTD1_uc002kvy.2_Missense_Mutation_p.M1I NM_001136205 NP_001129677 Q719H9 KCTD1_HUMAN potassium channel tetramerisation domain 83 BTB. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|voltage-gated potassium channel complex transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity ovary(1) 1 all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848) Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05) TATATCTGAACATCTGTCCAT 0.373 25 60 --- --- --- --- PASS DSC1 1823 broad.mit.edu 37 18 28723718 28723718 + Missense_Mutation SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr18:28723718C>T uc002kwn.2 - 8 1238 c.976G>A c.(976-978)GAC>AAC p.D326N DSC1_uc002kwm.2_Missense_Mutation_p.D326N NM_024421 NP_077739 Q08554 DSC1_HUMAN desmocollin 1 isoform Dsc1a preproprotein 326 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding ovary(3)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(10;0.00778) CCACCCATGTCTCGCACTTCC 0.333 22 46 --- --- --- --- PASS C18orf55 29090 broad.mit.edu 37 18 71825704 71825704 + Missense_Mutation SNP C G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr18:71825704C>G uc010dqr.1 + 6 1034 c.736C>G c.(736-738)CAA>GAA p.Q246E NM_014177 NP_054896 Q9BVV7 TI21L_HUMAN hypothetical protein LOC29090 precursor 246 protein transport|transmembrane transport integral to membrane|mitochondrial membrane 0 Esophageal squamous(42;0.0746)|Prostate(75;0.157)|Melanoma(33;0.211) TAATCGATCCCAAGATGATTA 0.363 3 19 --- --- --- --- PASS SHC2 25759 broad.mit.edu 37 19 422160 422160 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr19:422160C>A uc002loq.3 - 11 1606 c.1606G>T c.(1606-1608)GAC>TAC p.D536Y SHC2_uc002lop.3_Missense_Mutation_p.D277Y NM_012435 NP_036567 P98077 SHC2_HUMAN SHC (Src homology 2 domain containing) 536 SH2. insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol 0 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) CCCTCGGGGTCCACGAGCAGC 0.682 9 15 --- --- --- --- PASS SHC2 25759 broad.mit.edu 37 19 422161 422161 + Silent SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr19:422161C>A uc002loq.3 - 11 1605 c.1605G>T c.(1603-1605)GTG>GTT p.V535V SHC2_uc002lop.3_Silent_p.V276V NM_012435 NP_036567 P98077 SHC2_HUMAN SHC (Src homology 2 domain containing) 535 SH2. insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol 0 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) CCTCGGGGTCCACGAGCAGCA 0.687 9 15 --- --- --- --- PASS TBXA2R 6915 broad.mit.edu 37 19 3600005 3600005 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr19:3600005G>T uc002lyg.1 - 2 842 c.628C>A c.(628-630)CTG>ATG p.L210M TBXA2R_uc002lye.1_Intron NM_001060 NP_001051 P21731 TA2R_HUMAN thromboxane A2 receptor isoform alpha 210 Helical; Name=5; (Potential). platelet activation integral to plasma membrane guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) Ridogrel(DB01207) AGGAAGGACAGCCCGACCGAG 0.697 13 15 --- --- --- --- PASS FBN3 84467 broad.mit.edu 37 19 8175791 8175791 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr19:8175791C>A uc002mjf.2 - 33 4292 c.4271G>T c.(4270-4272)GGA>GTA p.G1424V NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 1424 EGF-like 22; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 GCGGAACATTCCAGGCAGGTT 0.612 67 120 --- --- --- --- PASS ACTL9 284382 broad.mit.edu 37 19 8808488 8808488 + Silent SNP G A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr19:8808488G>A uc002mkl.2 - 1 685 c.564C>T c.(562-564)CAC>CAT p.H188H NM_178525 NP_848620 Q8TC94 ACTL9_HUMAN actin-like 9 188 cytoplasm|cytoskeleton large_intestine(2)|pancreas(1) 3 TGACACGACCGTGGGCGTAGA 0.662 28 48 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9062542 9062542 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr19:9062542G>T uc002mkp.2 - 3 25108 c.24904C>A c.(24904-24906)CCT>ACT p.P8302T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 8304 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 ACCAGGCCAGGGTTGAGAAGA 0.517 40 99 --- --- --- --- PASS OR7E24 26648 broad.mit.edu 37 19 9362644 9362644 + Missense_Mutation SNP A G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr19:9362644A>G uc002mlb.1 + 1 925 c.925A>G c.(925-927)AGC>GGC p.S309G NM_001079935 NP_001073404 Q6IFN5 O7E24_HUMAN olfactory receptor, family 7, subfamily E, 309 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 CTTCATCTACAGCCTGAGGAA 0.483 34 81 --- --- --- --- PASS MAN2B1 4125 broad.mit.edu 37 19 12758128 12758128 + Missense_Mutation SNP T C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr19:12758128T>C uc002mub.2 - 23 2918 c.2842A>G c.(2842-2844)ATC>GTC p.I948V MAN2B1_uc010dyv.1_Missense_Mutation_p.I947V NM_000528 NP_000519 O00754 MA2B1_HUMAN mannosidase, alpha, class 2B, member 1 948 protein deglycosylation lysosome alpha-mannosidase activity|zinc ion binding ovary(4)|central_nervous_system(2) 6 AGGCGGGTGATGGTGAAGGTG 0.632 43 84 --- --- --- --- PASS EMR3 84658 broad.mit.edu 37 19 14748941 14748941 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr19:14748941G>T uc002mzi.3 - 11 1608 c.1460C>A c.(1459-1461)CCT>CAT p.P487H EMR3_uc010dzp.2_Missense_Mutation_p.P435H|EMR3_uc010xnv.1_Missense_Mutation_p.P361H NM_032571 NP_115960 Q9BY15 EMR3_HUMAN egf-like module-containing mucin-like receptor 487 Extracellular (Potential). neuropeptide signaling pathway extracellular space|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(5)|skin(1) 6 ATAAAGGTGAGGCCAGGAGGC 0.498 62 144 --- --- --- --- PASS RASAL3 64926 broad.mit.edu 37 19 15572071 15572071 + Nonsense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr19:15572071C>A uc002nbe.2 - 4 588 c.502G>T c.(502-504)GAG>TAG p.E168* NM_022904 NP_075055 Q86YV0 RASL3_HUMAN RAS protein activator like 3 168 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity 0 ATGCTGCCCTCGGAGCTAGCA 0.542 6 25 --- --- --- --- PASS ZNF208 7757 broad.mit.edu 37 19 22157333 22157333 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr19:22157333G>T uc002nqp.2 - 4 652 c.503C>A c.(502-504)ACT>AAT p.T168N 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) TTTCTTTCCAGTATGCCTTAT 0.328 34 105 --- --- --- --- PASS ZNF536 9745 broad.mit.edu 37 19 31039975 31039975 + Missense_Mutation SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr19:31039975C>T uc002nsu.1 + 4 3587 c.3449C>T c.(3448-3450)CCC>CTC p.P1150L ZNF536_uc010edd.1_Missense_Mutation_p.P1150L NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 1150 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) ATCCTGATCCCCGAAACCACG 0.547 20 105 --- --- --- --- PASS CCDC123 84902 broad.mit.edu 37 19 33392320 33392320 + Splice_Site SNP T A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr19:33392320T>A uc002nty.2 - 15 1655 c.1566_splice c.e15-1 p.S522_splice CCDC123_uc002ntx.2_Splice_Site_p.S275_splice|CCDC123_uc010edg.2_Splice_Site NM_032816 NP_116205 Q96ST8 CEP89_HUMAN coiled-coil domain containing 123 centrosome|spindle pole 0 Esophageal squamous(110;0.137) TGTAATTGGCTGAAGGACAAA 0.478 69 221 --- --- --- --- PASS ZNF567 163081 broad.mit.edu 37 19 37211129 37211129 + Silent SNP A G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr19:37211129A>G uc010xtl.1 + 6 1725 c.1503A>G c.(1501-1503)GGA>GGG p.G501G ZNF567_uc002oeo.1_Silent_p.G501G|ZNF567_uc010xtk.1_Silent_p.G501G|ZNF567_uc002oep.3_Silent_p.G470G|ZNF567_uc002oeq.1_Silent_p.G470G NM_152603 NP_689816 Q8N184 ZN567_HUMAN zinc finger protein 567 501 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) CTCACACAGGAGAGAAACCAT 0.388 23 121 --- --- --- --- PASS ACTN4 81 broad.mit.edu 37 19 39212286 39212286 + Missense_Mutation SNP A G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr19:39212286A>G uc002oja.1 + 12 1459 c.1400A>G c.(1399-1401)CAG>CGG p.Q467R ACTN4_uc010egc.1_Missense_Mutation_p.Q467R NM_004924 NP_004915 O43707 ACTN4_HUMAN actinin, alpha 4 467 Spectrin 2. platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity 0 all_cancers(60;1.57e-05)|Ovarian(47;0.103) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) GCTGCGCACCAGGACCGCGTG 0.622 20 73 --- --- --- --- PASS SHKBP1 92799 broad.mit.edu 37 19 41097083 41097083 + Silent SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr19:41097083C>T uc002oob.2 + 18 2143 c.2094C>T c.(2092-2094)CCC>CCT p.P698P SHKBP1_uc002ooc.2_Silent_p.P673P|SHKBP1_uc002ood.2_Silent_p.P606P|SHKBP1_uc002ooe.2_Silent_p.P535P|SHKBP1_uc002oof.2_Silent_p.P534P|SHKBP1_uc010xvm.1_Silent_p.P478P|SHKBP1_uc010xvn.1_Silent_p.P576P|LTBP4_uc002oog.1_5'Flank NM_138392 NP_612401 Q8TBC3 SHKB1_HUMAN SH3KBP1 binding protein 1 698 voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1)|pancreas(1) 2 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) TCACACCTCCCAAGATGAAGC 0.622 11 52 --- --- --- --- PASS CYP2F1 1572 broad.mit.edu 37 19 41626392 41626392 + Missense_Mutation SNP A G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr19:41626392A>G uc002opu.1 + 4 531 c.475A>G c.(475-477)AAA>GAA p.K159E CYP2F1_uc010xvw.1_Intron|CYP2F1_uc010xvv.1_Missense_Mutation_p.K159E|CYP2F1_uc002opv.1_RNA NM_000774 NP_000765 P24903 CP2F1_HUMAN cytochrome P450, family 2, subfamily F, 159 naphthalene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding 0 GGAGCTGCGGAAAACTGAAGG 0.403 48 202 --- --- --- --- PASS CEACAM20 125931 broad.mit.edu 37 19 45029205 45029205 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr19:45029205G>T uc010ejn.1 - 2 141 c.125C>A c.(124-126)ACC>AAC p.T42N CEACAM20_uc010ejo.1_Missense_Mutation_p.T42N|CEACAM20_uc010ejp.1_Missense_Mutation_p.T42N|CEACAM20_uc010ejq.1_Missense_Mutation_p.T42N NM_001102597 NP_001096067 Q6UY09 CEA20_HUMAN carcinoembryonic antigen-related cell adhesion 42 Extracellular (Potential). integral to membrane large_intestine(2) 2 Prostate(69;0.0352) CTCACTTTGGGTGGCATCAAG 0.562 53 127 --- --- --- --- PASS CLPTM1 1209 broad.mit.edu 37 19 45489736 45489736 + Silent SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr19:45489736G>T uc002pai.2 + 7 711 c.696G>T c.(694-696)GTG>GTT p.V232V CLPTM1_uc010ejv.1_Silent_p.V130V|CLPTM1_uc010xxf.1_Silent_p.V130V|CLPTM1_uc010xxg.1_Silent_p.V218V NM_001294 NP_001285 O96005 CLPT1_HUMAN cleft lip and palate associated transmembrane 232 Extracellular (Potential). cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus external side of plasma membrane|integral to plasma membrane ovary(1) 1 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187) ATGGGCCTGTGGAGGTGATCT 0.592 42 147 --- --- --- --- PASS CLPTM1 1209 broad.mit.edu 37 19 45489737 45489737 + Nonsense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr19:45489737G>T uc002pai.2 + 7 712 c.697G>T c.(697-699)GAG>TAG p.E233* CLPTM1_uc010ejv.1_Nonsense_Mutation_p.E131*|CLPTM1_uc010xxf.1_Nonsense_Mutation_p.E131*|CLPTM1_uc010xxg.1_Nonsense_Mutation_p.E219* NM_001294 NP_001285 O96005 CLPT1_HUMAN cleft lip and palate associated transmembrane 233 Extracellular (Potential). cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus external side of plasma membrane|integral to plasma membrane ovary(1) 1 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187) TGGGCCTGTGGAGGTGATCTC 0.587 40 150 --- --- --- --- PASS HAS1 3036 broad.mit.edu 37 19 52219607 52219607 + Silent SNP A T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr19:52219607A>T uc002pxo.1 - 4 998 c.963T>A c.(961-963)CTT>CTA p.L321L HAS1_uc010epc.1_Intron|HAS1_uc010epd.1_Silent_p.L286L|HAS1_uc002pxn.1_Silent_p.L328L|HAS1_uc002pxp.1_Silent_p.L320L NM_001523 NP_001514 Q92839 HAS1_HUMAN hyaluronan synthase 1 321 Cytoplasmic (Potential). cell adhesion integral to plasma membrane hyaluronan synthase activity|protein binding ovary(1)|pancreas(1) 2 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) ACCAGGCCTCAAGAAACTGCT 0.473 11 133 --- --- --- --- PASS DPRX 503834 broad.mit.edu 37 19 54140201 54140201 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr19:54140201G>T uc002qcf.1 + 3 586 c.535G>T c.(535-537)GGC>TGC p.G179C NM_001012728 NP_001012746 A6NFQ7 DPRX_HUMAN divergent-paired related homeobox 179 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.013) CTTCCATTCTGGCTCTCCTGC 0.388 58 236 --- --- --- --- PASS LILRA2 11027 broad.mit.edu 37 19 55085922 55085922 + Missense_Mutation SNP G C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr19:55085922G>C uc002qgg.3 + 3 314 c.225G>C c.(223-225)GAG>GAC p.E75D LILRA2_uc010ern.2_Missense_Mutation_p.E75D|LILRA2_uc002qgf.2_Missense_Mutation_p.E75D|LILRA2_uc010yfe.1_Missense_Mutation_p.E75D|LILRA2_uc010yff.1_Missense_Mutation_p.E63D|LILRA2_uc010ero.2_Missense_Mutation_p.E63D|LILRA2_uc010yfg.1_Missense_Mutation_p.E75D NM_001130917 NP_001124389 Q8N149 LIRA2_HUMAN leukocyte immunoglobulin-like receptor, 75 Extracellular (Potential).|Ig-like C2-type 1. defense response integral to membrane antigen binding|receptor activity ovary(1) 1 GBM - Glioblastoma multiforme(193;0.0963) GGATACAAGAGCCTGGGAAGA 0.522 69 114 --- --- --- --- PASS LILRB1 10859 broad.mit.edu 37 19 55148200 55148200 + Silent SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr19:55148200C>A uc002qgj.2 + 16 2164 c.1824C>A c.(1822-1824)GCC>GCA p.A608A LILRB1_uc002qgl.2_Silent_p.A609A|LILRB1_uc002qgk.2_Silent_p.A609A|LILRB1_uc002qgm.2_Silent_p.A610A|LILRB1_uc010erq.2_Silent_p.A592A|LILRB1_uc010err.2_RNA NM_006669 NP_006660 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, 608 Cytoplasmic (Potential). regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity large_intestine(1)|ovary(1)|skin(1) 3 GBM - Glioblastoma multiforme(193;0.0188) CATCTGAAGCCCCCCAGGATG 0.657 HNSCC(37;0.09) 32 110 --- --- --- --- PASS PPP1R12C 54776 broad.mit.edu 37 19 55624120 55624120 + Missense_Mutation SNP T A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr19:55624120T>A uc002qix.2 - 2 381 c.365A>T c.(364-366)GAG>GTG p.E122V PPP1R12C_uc010yfs.1_Missense_Mutation_p.E48V|PPP1R12C_uc002qiy.2_Missense_Mutation_p.E122V NM_017607 NP_060077 Q9BZL4 PP12C_HUMAN protein phosphatase 1, regulatory subunit 12C 122 ANK 1. cytoplasm ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0449) GGCGCCCTGCTCCACCAAGAA 0.642 50 144 --- --- --- --- PASS NLRP4 147945 broad.mit.edu 37 19 56372885 56372885 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr19:56372885C>A uc002qmd.3 + 4 2412 c.1990C>A c.(1990-1992)CAT>AAT p.H664N NLRP4_uc002qmf.2_Missense_Mutation_p.H589N|NLRP4_uc010etf.2_Missense_Mutation_p.H495N NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 664 ATP binding ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) CCAGCTGAGGCATCCCAGCTG 0.557 37 161 --- --- --- --- PASS PDYN 5173 broad.mit.edu 37 20 1961062 1961062 + Missense_Mutation SNP C G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr20:1961062C>G uc010gaj.2 - 3 914 c.672G>C c.(670-672)AAG>AAC p.K224N uc002wfu.1_Intron|PDYN_uc002wfv.2_Missense_Mutation_p.K224N|PDYN_uc010zpt.1_Missense_Mutation_p.K69N NM_024411 NP_077722 P01213 PDYN_HUMAN beta-neoendorphin-dynorphin preproprotein 224 cell death|neuropeptide signaling pathway|synaptic transmission extracellular region|plasma membrane opioid peptide activity upper_aerodigestive_tract(1)|ovary(1) 2 CGCCATAGCGCTTCTGGTTGT 0.567 51 180 --- --- --- --- PASS SIGLEC1 6614 broad.mit.edu 37 20 3678513 3678513 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr20:3678513C>A uc002wja.2 - 8 2054 c.2054G>T c.(2053-2055)GGC>GTC p.G685V SIGLEC1_uc002wiz.3_Missense_Mutation_p.G685V NM_023068 NP_075556 Q9BZZ2 SN_HUMAN sialoadhesin precursor 685 Ig-like C2-type 6.|Extracellular (Potential). cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1) 10 GAGGTACAAGCCCTCCTCTTC 0.622 36 118 --- --- --- --- PASS HAO1 54363 broad.mit.edu 37 20 7886921 7886921 + Missense_Mutation SNP C A A rs113948510 TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr20:7886921C>A uc002wmw.1 - 4 625 c.601G>T c.(601-603)GAC>TAC p.D201Y HAO1_uc010gbu.2_Missense_Mutation_p.D201Y NM_017545 NP_060015 Q9UJM8 HAOX1_HUMAN hydroxyacid oxidase 1 201 FMN hydroxy acid dehydrogenase. cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process peroxisomal matrix FMN binding|glycolate oxidase activity|glyoxylate oxidase activity ovary(3) 3 CCACTGTCGTCTCCAAAATTT 0.353 59 154 --- --- --- --- PASS PAK7 57144 broad.mit.edu 37 20 9546740 9546740 + Missense_Mutation SNP A G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr20:9546740A>G uc002wnl.2 - 6 1827 c.1282T>C c.(1282-1284)TCC>CCC p.S428P PAK7_uc002wnk.2_Missense_Mutation_p.S428P|PAK7_uc002wnj.2_Missense_Mutation_p.S428P|PAK7_uc010gby.1_Missense_Mutation_p.S428P NM_020341 NP_065074 Q9P286 PAK7_HUMAN p21-activated kinase 7 428 Linker. ATP binding|protein binding|protein serine/threonine kinase activity lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1) 23 COAD - Colon adenocarcinoma(9;0.194) TGTTCATGGGACACCCTGGAG 0.632 36 142 --- --- --- --- PASS OVOL2 58495 broad.mit.edu 37 20 18005510 18005510 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr20:18005510C>A uc002wqi.1 - 4 841 c.598G>T c.(598-600)GTG>TTG p.V200L NM_021220 NP_067043 Q9BRP0 OVOL2_HUMAN zinc finger protein 339 200 negative regulation of keratinocyte differentiation|negative regulation of Notch signaling pathway|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent nucleus DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1) 1 TGCTGCTGCACCCCATGGATT 0.572 38 126 --- --- --- --- PASS RBBP9 10741 broad.mit.edu 37 20 18474619 18474619 + Silent SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr20:18474619C>T uc002wqy.2 - 3 307 c.231G>A c.(229-231)GGG>GGA p.G77G NM_006606 NP_006597 O75884 RBBP9_HUMAN retinoblastoma binding protein 9 77 cytoplasm|nucleus hydrolase activity haematopoietic_and_lymphoid_tissue(1) 1 CCGCGATGGCCCCAGAACTGT 0.483 37 93 --- --- --- --- PASS C20orf26 26074 broad.mit.edu 37 20 20177337 20177337 + Missense_Mutation SNP A G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr20:20177337A>G uc002wru.2 + 16 1790 c.1714A>G c.(1714-1716)AAG>GAG p.K572E C20orf26_uc010zse.1_Missense_Mutation_p.K552E NM_015585 NP_056400 Q8NHU2 CT026_HUMAN hypothetical protein LOC26074 572 ovary(3)|pancreas(1) 4 READ - Rectum adenocarcinoma(2;0.171) GCACTACACCAAGTTCTTTCT 0.458 33 143 --- --- --- --- PASS C20orf26 26074 broad.mit.edu 37 20 20278834 20278834 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr20:20278834C>A uc002wru.2 + 25 3302 c.3226C>A c.(3226-3228)CTA>ATA p.L1076I C20orf26_uc002wrw.2_RNA NM_015585 NP_056400 Q8NHU2 CT026_HUMAN hypothetical protein LOC26074 1076 ovary(3)|pancreas(1) 4 READ - Rectum adenocarcinoma(2;0.171) GGGTTTAGAACTAGTAACCGG 0.388 30 70 --- --- --- --- PASS PAX1 5075 broad.mit.edu 37 20 21695287 21695287 + Missense_Mutation SNP C G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr20:21695287C>G uc002wsj.2 + 5 1505 c.1451C>G c.(1450-1452)ACG>AGG p.T484R PAX1_uc010zsl.1_3'UTR|PAX1_uc010zsm.1_3'UTR NM_006192 NP_006183 P15863 PAX1_HUMAN paired box 1 484 regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding upper_aerodigestive_tract(1)|kidney(1) 2 GCAATCGGCACGGGCAGGATC 0.771 3 7 --- --- --- --- PASS C20orf186 149954 broad.mit.edu 37 20 31671617 31671617 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr20:31671617G>T uc010zue.1 + 3 629 c.614G>T c.(613-615)GGA>GTA p.G205V NM_182519 NP_872325 P59827 LPLC4_HUMAN antimicrobial peptide RY2G5 precursor 205 Gly-rich. cytoplasm|extracellular region lipid binding 0 CTTCTTGGAGGAGGGGGTGTC 0.652 23 70 --- --- --- --- PASS NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr20:33345744C>T uc002xav.2 - 8 3378 c.807G>A c.(805-807)CAG>CAA p.Q269Q NCOA6_uc002xaw.2_Silent_p.Q269Q|NCOA6_uc010gew.1_Silent_p.Q226Q NM_014071 NP_054790 Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 TBP/GTF2A-binding region.|NCOA1-binding region.|Gln-rich.|CREBBP-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding ovary(3)|breast(3)|central_nervous_system(1) 7 gctgctgctgctgttgttgtt 0.313 3 13 --- --- --- --- PASS PTPRT 11122 broad.mit.edu 37 20 40714482 40714482 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr20:40714482C>A uc002xkg.2 - 28 4042 c.3858G>T c.(3856-3858)CAG>CAT p.Q1286H PTPRT_uc010ggj.2_Missense_Mutation_p.Q1305H|PTPRT_uc010ggi.2_Missense_Mutation_p.Q489H NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1286 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2. 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) CAGGCCAGTACTGCATACAGA 0.488 31 136 --- --- --- --- PASS PI3 5266 broad.mit.edu 37 20 43804748 43804748 + Missense_Mutation SNP G A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr20:43804748G>A uc002xng.2 + 2 350 c.326G>A c.(325-327)TGC>TAC p.C109Y NM_002638 NP_002629 P19957 ELAF_HUMAN elafin preproprotein 109 WAP. copulation proteinaceous extracellular matrix serine-type endopeptidase inhibitor activity 0 Myeloproliferative disorder(115;0.0122) GAAGGCTCTTGCGGGATGGCC 0.552 33 116 --- --- --- --- PASS STX16 8675 broad.mit.edu 37 20 57245631 57245631 + Missense_Mutation SNP A T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr20:57245631A>T uc002xzi.2 + 6 1355 c.620A>T c.(619-621)GAT>GTT p.D207V STX16_uc010zzq.1_Missense_Mutation_p.D21V|STX16_uc002xzk.2_Missense_Mutation_p.D190V|STX16_uc002xzm.2_Missense_Mutation_p.D203V|STX16_uc002xzj.2_Missense_Mutation_p.D186V|STX16_uc002xzl.2_Missense_Mutation_p.D21V NM_001001433 NP_001001433 O14662 STX16_HUMAN syntaxin 16 isoform a 207 Cytoplasmic (Potential). intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi Golgi membrane|integral to membrane|microsome|SNARE complex SNAP receptor activity ovary(1) 1 all_lung(29;0.0175) BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05) CTAATGGATGATGGAGACGAT 0.438 22 94 --- --- --- --- PASS GNAS 2778 broad.mit.edu 37 20 57474005 57474005 + Silent SNP A G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr20:57474005A>G uc002xzw.2 + 3 2436 c.2151A>G c.(2149-2151)GAA>GAG p.E717E GNAS_uc002xzt.2_3'UTR|GNAS_uc002xzu.3_RNA|GNAS_uc010gjq.2_Silent_p.E15E|GNAS_uc002xzv.2_RNA|GNAS_uc002xzx.2_Silent_p.E15E|GNAS_uc010gjr.2_Intron|GNAS_uc002xzy.2_Intron|GNAS_uc002yaa.2_Intron|GNAS_uc010zzt.1_Silent_p.E74E|GNAS_uc002yab.2_Intron|GNAS_uc002yad.2_5'UTR NM_080425 NP_536350 P63092 GNAS2_HUMAN GNAS complex locus XLas 74 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1) 292 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) GGGGCGGCGAAGAGGACCCGC 0.473 Mis pituitary adenoma McCune-Albright syndrome; pseudohypoparathyroidism|type IA 3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome TSP Lung(22;0.16) 19 219 --- --- --- --- PASS CHRNA4 1137 broad.mit.edu 37 20 61982241 61982241 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr20:61982241G>T uc002yes.2 - 5 700 c.522C>A c.(520-522)AAC>AAA p.N174K CHRNA4_uc002yet.1_Translation_Start_Site|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Missense_Mutation_p.N103K|CHRNA4_uc002yev.1_Translation_Start_Site|CHRNA4_uc010gkf.1_Translation_Start_Site NM_000744 NP_000735 P43681 ACHA4_HUMAN cholinergic receptor, nicotinic, alpha 4 subunit 174 Extracellular (Potential). B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(1)|skin(1) 2 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) TCATGGTGCAGTTCTGCTGGT 0.602 44 152 --- --- --- --- PASS UMODL1 89766 broad.mit.edu 37 21 43519149 43519149 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr21:43519149G>T uc002zaf.1 + 7 1045 c.1045G>T c.(1045-1047)GGT>TGT p.G349C UMODL1_uc002zad.1_Missense_Mutation_p.G277C|UMODL1_uc002zae.1_Missense_Mutation_p.G277C|UMODL1_uc002zag.1_Missense_Mutation_p.G349C|UMODL1_uc010gow.1_Missense_Mutation_p.G141C|UMODL1_uc002zai.1_5'UTR|UMODL1_uc010gox.1_RNA|UMODL1_uc010goy.1_5'UTR|UMODL1_uc002zaj.1_RNA|UMODL1_uc010goz.1_Missense_Mutation_p.G94C NM_001004416 NP_001004416 Q5DID0 UROL1_HUMAN uromodulin-like 1 isoform 1 precursor 349 Extracellular (Potential).|Fibronectin type-III 1. cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity ovary(2)|skin(1) 3 GGTTTACCGGGGTATGGAGTT 0.557 49 113 --- --- --- --- PASS C21orf33 8209 broad.mit.edu 37 21 45564780 45564780 + Silent SNP T C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr21:45564780T>C uc002zec.3 + 7 842 c.756T>C c.(754-756)CAT>CAC p.H252H C21orf33_uc002zed.3_Silent_p.H221H NM_004649 NP_004640 P30042 ES1_HUMAN es1 protein isoform Ia precursor 252 mitochondrion ovary(1) 1 STAD - Stomach adenocarcinoma(101;0.168)|Colorectal(79;0.191) ACTACATCCATGATGGGATCG 0.582 36 62 --- --- --- --- PASS COL6A2 1292 broad.mit.edu 37 21 47551972 47551972 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr21:47551972G>T uc002zia.1 + 28 2648 c.2566G>T c.(2566-2568)GTG>TTG p.V856L COL6A2_uc002zib.1_Missense_Mutation_p.V262L|COL6A2_uc002zic.1_5'UTR|COL6A2_uc010gqe.1_RNA NM_001849 NP_001840 P12110 CO6A2_HUMAN alpha 2 type VI collagen isoform 2C2 precursor 856 Nonhelical region.|VWFA 3. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging central_nervous_system(7)|ovary(1) 8 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) CCGGCGCTTCGTGGAGCAGGT 0.706 7 15 --- --- --- --- PASS KLHL22 84861 broad.mit.edu 37 22 20819581 20819581 + Nonsense_Mutation SNP G A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr22:20819581G>A uc002zsl.1 - 4 785 c.676C>T c.(676-678)CAG>TAG p.Q226* KLHL22_uc011ahr.1_Nonsense_Mutation_p.Q83*|KLHL22_uc002zsm.1_Nonsense_Mutation_p.Q226* NM_032775 NP_116164 Q53GT1 KLH22_HUMAN kelch-like 226 cell division Cul3-RING ubiquitin ligase complex lung(1) 1 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) GCCTGCACCTGCTCCAGGCTA 0.587 18 58 --- --- --- --- PASS MYO18B 84700 broad.mit.edu 37 22 26422656 26422656 + Missense_Mutation SNP C G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr22:26422656C>G uc003abz.1 + 43 6966 c.6716C>G c.(6715-6717)TCG>TGG p.S2239W MYO18B_uc003aca.1_Missense_Mutation_p.S2120W|MYO18B_uc010guy.1_Missense_Mutation_p.S2121W|MYO18B_uc010guz.1_Missense_Mutation_p.S2119W|MYO18B_uc011aka.1_Missense_Mutation_p.S1393W|MYO18B_uc011akb.1_Missense_Mutation_p.S1752W|MYO18B_uc010gva.1_Missense_Mutation_p.S222W|MYO18B_uc010gvb.1_RNA NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2239 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 TCCCCGCTGTCGAGGGAAAAG 0.612 13 31 --- --- --- --- PASS GAL3ST1 9514 broad.mit.edu 37 22 30951750 30951750 + Silent SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr22:30951750C>T uc003aig.1 - 4 602 c.462G>A c.(460-462)CCG>CCA p.P154P GAL3ST1_uc003aih.1_Silent_p.P154P|GAL3ST1_uc003aii.1_Silent_p.P154P|GAL3ST1_uc010gvz.1_Silent_p.P154P NM_004861 NP_004852 Q99999 G3ST1_HUMAN galactose-3-O-sulfotransferase 1 154 Lumenal (Potential). protein N-linked glycosylation Golgi membrane|integral to plasma membrane|membrane fraction galactosylceramide sulfotransferase activity 0 TGGCGTTGGTCGGCACCAGGC 0.652 47 141 --- --- --- --- PASS BPIL2 254240 broad.mit.edu 37 22 32849427 32849427 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr22:32849427C>A uc003amn.2 - 2 188 c.188G>T c.(187-189)AGC>ATC p.S63I BPIL2_uc010gwo.2_5'UTR|BPIL2_uc011amb.1_5'UTR|BPIL2_uc003amo.3_Missense_Mutation_p.S63I NM_174932 NP_777592 Q8NFQ6 BPIL2_HUMAN bactericidal/permeability-increasing 63 extracellular region lipopolysaccharide binding|phospholipid binding ovary(1)|skin(1) 2 CTCAGAACCGCTTAAATCTGG 0.264 20 62 --- --- --- --- PASS ISX 91464 broad.mit.edu 37 22 35463085 35463085 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr22:35463085G>T uc003anj.2 + 1 956 c.5G>T c.(4-6)TGT>TTT p.C2F ISX_uc011amg.1_5'UTR NM_001008494 NP_001008494 Q2M1V0 ISX_HUMAN intestine-specific homeobox 2 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2) 5 CCCTCAATGTGTGCTGAGGTG 0.617 13 29 --- --- --- --- PASS PNPLA3 80339 broad.mit.edu 37 22 44330490 44330490 + Missense_Mutation SNP T C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr22:44330490T>C uc003bei.1 + 5 874 c.701T>C c.(700-702)CTG>CCG p.L234P PNPLA3_uc010gzm.1_RNA NM_025225 NP_079501 Q9NST1 PLPL3_HUMAN patatin-like phospholipase domain containing 3 234 Lumenal (Potential). triglyceride biosynthetic process|triglyceride catabolic process integral to membrane diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity 0 Ovarian(80;0.024)|all_neural(38;0.0416) TCACAGGTGCTGGGAGAGATA 0.493 37 87 --- --- --- --- PASS PKDREJ 10343 broad.mit.edu 37 22 46657974 46657974 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr22:46657974G>T uc003bhh.2 - 1 1246 c.1246C>A c.(1246-1248)CTG>ATG p.L416M NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN receptor for egg jelly-like protein precursor 416 Extracellular (Potential).|REJ. acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity breast(3)|ovary(2) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) AAAAGTGTCAGTACAGGGCCC 0.522 71 137 --- --- --- --- PASS MXRA5 25878 broad.mit.edu 37 X 3238788 3238788 + Silent SNP C T T rs138419461 TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:3238788C>T uc004crg.3 - 5 5095 c.4938G>A c.(4936-4938)CCG>CCA p.P1646P NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 1646 extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) TAGTTATTTCCGGTTTGTTGG 0.453 144 438 --- --- --- --- PASS GPR143 4935 broad.mit.edu 37 X 9728819 9728819 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:9728819C>A uc004cst.1 - 2 358 c.358G>T c.(358-360)GAC>TAC p.D120Y NM_000273 NP_000264 P51810 GP143_HUMAN G protein-coupled receptor 143 100 Extracellular (Potential). calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding ovary(1) 1 Hepatocellular(5;0.000888) GAGACGCTGTCAACAAAATTT 0.483 8 12 --- --- --- --- PASS ASB9 140462 broad.mit.edu 37 X 15268612 15268612 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:15268612G>T uc004cwl.2 - 5 755 c.508C>A c.(508-510)CCA>ACA p.P170T ASB9_uc004cwk.2_Missense_Mutation_p.P170T|ASB9_uc004cwm.2_Missense_Mutation_p.P160T|ASB9_uc010ner.2_Missense_Mutation_p.P170T|ASB9_uc004cwn.2_Missense_Mutation_p.P141T NM_001031739 NP_001026909 Q96DX5 ASB9_HUMAN ankyrin repeat and SOCS box-containing 9 isoform 170 ANK 5. intracellular signal transduction 0 Hepatocellular(33;0.183) AAATAGAGTGGAGTGCCCAGG 0.458 68 199 --- --- --- --- PASS PHEX 5251 broad.mit.edu 37 X 22115098 22115098 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:22115098C>A uc004dah.2 + 8 1078 c.875C>A c.(874-876)ACC>AAC p.T292N PHEX_uc011mjr.1_Missense_Mutation_p.T292N|PHEX_uc011mjs.1_Missense_Mutation_p.T195N NM_000444 NP_000435 P78562 PHEX_HUMAN phosphate-regulating neutral endopeptidase 292 Extracellular (Potential). biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development integral to plasma membrane aminopeptidase activity|metalloendopeptidase activity|zinc ion binding ovary(2)|lung(1) 3 GAAAACCGAACCAGCGAGGCC 0.363 18 122 --- --- --- --- PASS DDX53 168400 broad.mit.edu 37 X 23019971 23019971 + Silent SNP A T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:23019971A>T uc004daj.2 + 1 1885 c.1797A>T c.(1795-1797)GTA>GTT p.V599V NM_182699 NP_874358 Q86TM3 DDX53_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 599 Helicase C-terminal. nucleus ATP binding|ATP-dependent helicase activity|RNA binding large_intestine(1)|ovary(1)|kidney(1) 3 ATCTTGTAGTAATGGCTGAGC 0.388 43 142 --- --- --- --- PASS DCAF8L1 139425 broad.mit.edu 37 X 27998447 27998447 + Silent SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:27998447G>T uc004dbx.1 - 1 1120 c.1005C>A c.(1003-1005)GTC>GTA p.V335V NM_001017930 NP_001017930 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 335 WD 4. ovary(3)|skin(1) 4 TATACAGTCCGACTTTCTTAT 0.418 49 123 --- --- --- --- PASS DCAF8L1 139425 broad.mit.edu 37 X 27998849 27998849 + Silent SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:27998849G>T uc004dbx.1 - 1 718 c.603C>A c.(601-603)ACC>ACA p.T201T NM_001017930 NP_001017930 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 201 WD 1. ovary(3)|skin(1) 4 TAAAGTGTATGGTACTGACAG 0.542 10 30 --- --- --- --- PASS DMD 1756 broad.mit.edu 37 X 31152218 31152218 + Splice_Site SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:31152218C>A uc004dda.1 - 77 11258 c.11014_splice c.e77+1 p.G3672_splice DMD_uc004dcq.1_Splice_Site_p.G943_splice|DMD_uc004dcr.1_Splice_Site_p.G1092_splice|DMD_uc004dcs.1_Splice_Site_p.G1102_splice|DMD_uc004dct.1_Splice_Site_p.G1212_splice|DMD_uc004dcu.1_Splice_Site_p.G1212_splice|DMD_uc004dcv.1_Splice_Site_p.G1199_splice|DMD_uc004dcw.2_Splice_Site_p.G2328_splice|DMD_uc004dcx.2_Splice_Site_p.G2331_splice|DMD_uc004dcz.2_Splice_Site_p.G3549_splice|DMD_uc004dcy.1_Splice_Site_p.G3668_splice|DMD_uc004ddb.1_Splice_Site_p.G3664_splice|DMD_uc004dcm.1_Splice_Site_p.G604_splice|DMD_uc004dcn.1_Splice_Site_p.G591_splice|DMD_uc004dco.1_Splice_Site_p.G604_splice|DMD_uc004dcp.1_Splice_Site_p.G591_splice|DMD_uc011mkb.1_Splice_Site_p.G494_splice NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 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) TTGGAGCTTACCTCTTGAACT 0.498 35 91 --- --- --- --- PASS SYTL5 94122 broad.mit.edu 37 X 37913508 37913508 + Silent SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:37913508G>T uc004ddu.2 + 4 696 c.162G>T c.(160-162)GGG>GGT p.G54G SYTL5_uc004ddv.2_Silent_p.G54G|SYTL5_uc004ddx.2_Silent_p.G54G NM_001163335 NP_001156807 Q8TDW5 SYTL5_HUMAN synaptotagmin-like 5 isoform 1 54 RabBD. intracellular protein transport membrane metal ion binding|Rab GTPase binding skin(1) 1 GTAGAAGTGGGAAAACTCAAC 0.438 23 72 --- --- --- --- PASS SYTL5 94122 broad.mit.edu 37 X 37913589 37913589 + Nonsense_Mutation SNP T A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:37913589T>A uc004ddu.2 + 4 777 c.243T>A c.(241-243)TGT>TGA p.C81* SYTL5_uc004ddv.2_Nonsense_Mutation_p.C81*|SYTL5_uc004ddx.2_Nonsense_Mutation_p.C81* NM_001163335 NP_001156807 Q8TDW5 SYTL5_HUMAN synaptotagmin-like 5 isoform 1 81 FYVE-type.|RabBD. intracellular protein transport membrane metal ion binding|Rab GTPase binding skin(1) 1 GAGACCCTTGTCAGGCTTGCT 0.512 9 213 --- --- --- --- PASS NYX 60506 broad.mit.edu 37 X 41333968 41333968 + Missense_Mutation SNP T A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:41333968T>A uc004dfh.2 + 2 1692 c.1262T>A c.(1261-1263)CTG>CAG p.L421Q NYX_uc011mku.1_Missense_Mutation_p.L416Q NM_022567 NP_072089 Q9GZU5 NYX_HUMAN nyctalopin precursor 421 response to stimulus|visual perception intracellular|proteinaceous extracellular matrix lung(2) 2 TCCAAGCTGCTGGCCCCGAGG 0.711 5 13 --- --- --- --- PASS EBP 10682 broad.mit.edu 37 X 48386663 48386663 + Missense_Mutation SNP C A A rs141925556 byFrequency TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:48386663C>A uc004djx.3 + 5 716 c.511C>A c.(511-513)CGC>AGC p.R171S EBP_uc004djy.3_Missense_Mutation_p.R171S|EBP_uc004djz.2_Missense_Mutation_p.R171S NM_006579 NP_006570 Q15125 EBP_HUMAN emopamil binding protein (sterol isomerase) 171 cholesterol biosynthetic process|skeletal system development endoplasmic reticulum membrane|integral to plasma membrane cholestenol delta-isomerase activity|drug transmembrane transporter activity|steroid delta-isomerase activity|transmembrane receptor activity ovary(1) 1 GACAGAGCACCGCGACGGATT 0.572 18 50 --- --- --- --- PASS PIM2 11040 broad.mit.edu 37 X 48775872 48775872 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:48775872G>T uc004dls.2 - 2 414 c.112C>A c.(112-114)CTG>ATG p.L38M NM_006875 NP_006866 Q9P1W9 PIM2_HUMAN serine/threonine protein kinase pim-2 38 Protein kinase.|ATP (By similarity). anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus ATP binding|protein serine/threonine kinase activity lung(3)|stomach(1) 4 CCCTTACCCAGGAGGGGGCCG 0.657 27 45 --- --- --- --- PASS TFE3 7030 broad.mit.edu 37 X 48896775 48896775 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:48896775G>T uc004dmb.3 - 3 629 c.391C>A c.(391-393)CGT>AGT p.R131S TFE3_uc004dmc.3_Missense_Mutation_p.R26S|TFE3_uc004dme.1_RNA NM_006521 NP_006512 P19532 TFE3_HUMAN transcription factor E3 131 humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ASPSCR1/TFE3(161)|PRCC/TFE3(25)|SFPQ/TFE3(6)|NONO/TFE3(2)|CLTC/TFE3(2) soft_tissue(120)|kidney(76)|central_nervous_system(1) 197 CGACGCTCACGCCTCTCCTGC 0.662 T SFPQ|ASPSCR1|PRCC|NONO|CLTC papillary renal|alveolar soft part sarcoma|renal 11 11 --- --- --- --- PASS CACNA1F 778 broad.mit.edu 37 X 49087004 49087004 + Missense_Mutation SNP G A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:49087004G>A uc004dnb.2 - 5 651 c.589C>T c.(589-591)CCA>TCA p.P197S CACNA1F_uc010nip.2_Missense_Mutation_p.P197S NM_005183 NP_005174 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, 197 I.|Extracellular (Potential). axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(3)|ovary(1)|kidney(1)|skin(1) 6 Verapamil(DB00661) AAGCCTCCTGGCTTTCCCCCG 0.697 6 20 --- --- --- --- PASS CCNB3 85417 broad.mit.edu 37 X 50090771 50090771 + Nonsense_Mutation SNP C G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:50090771C>G uc004dox.3 + 11 4255 c.3957C>G c.(3955-3957)TAC>TAG p.Y1319* CCNB3_uc004doy.2_Nonsense_Mutation_p.Y1319*|CCNB3_uc004doz.2_Nonsense_Mutation_p.Y215*|CCNB3_uc010njq.2_Nonsense_Mutation_p.Y211*|CCNB3_uc004dpa.2_Nonsense_Mutation_p.Y158* NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN cyclin B3 isoform 3 1319 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding ovary(4)|lung(3)|large_intestine(1)|pancreas(1) 9 Ovarian(276;0.236) AGCTCGGATACTGGGTAAACA 0.502 13 54 --- --- --- --- PASS TSPYL2 64061 broad.mit.edu 37 X 53112249 53112249 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:53112249G>T uc004drw.2 + 1 701 c.569G>T c.(568-570)CGG>CTG p.R190L TSPYL2_uc004drv.2_Missense_Mutation_p.R190L|TSPYL2_uc004drx.1_5'Flank NM_022117 NP_071400 Q9H2G4 TSYL2_HUMAN TSPY-like 2 190 Arg-rich. cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus protein binding|rDNA binding 0 aggaggcggcggcggcggcgg 0.244 11 19 --- --- --- --- PASS TSPYL2 64061 broad.mit.edu 37 X 53112250 53112250 + Silent SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:53112250G>T uc004drw.2 + 1 702 c.570G>T c.(568-570)CGG>CGT p.R190R TSPYL2_uc004drv.2_Silent_p.R190R|TSPYL2_uc004drx.1_5'Flank NM_022117 NP_071400 Q9H2G4 TSYL2_HUMAN TSPY-like 2 190 Arg-rich. cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus protein binding|rDNA binding 0 ggaggcggcggcggcggcgga 0.244 11 19 --- --- --- --- PASS HUWE1 10075 broad.mit.edu 37 X 53574688 53574688 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:53574688C>A uc004dsp.2 - 68 10984 c.10582G>T c.(10582-10584)GTA>TTA p.V3528L HUWE1_uc004dsn.2_Missense_Mutation_p.V2336L|HUWE1_uc004dsq.1_5'Flank NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 3528 Thr-rich. base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 GAAGCAGCTACGACAATGGTG 0.502 15 51 --- --- --- --- PASS HUWE1 10075 broad.mit.edu 37 X 53574689 53574689 + Silent SNP G A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:53574689G>A uc004dsp.2 - 68 10983 c.10581C>T c.(10579-10581)GTC>GTT p.V3527V HUWE1_uc004dsn.2_Silent_p.V2335V|HUWE1_uc004dsq.1_5'Flank NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 3527 Thr-rich. base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 AAGCAGCTACGACAATGGTGG 0.502 16 50 --- --- --- --- PASS WNK3 65267 broad.mit.edu 37 X 54276065 54276065 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:54276065G>T uc004dtd.1 - 17 3155 c.2716C>A c.(2716-2718)CCA>ACA p.P906T WNK3_uc004dtc.1_Missense_Mutation_p.P906T NM_001002838 NP_001002838 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 isoform 2 906 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity lung(4)|ovary(3)|kidney(2)|central_nervous_system(2) 11 GTGTTTTTTGGACCTGGAACA 0.408 69 185 --- --- --- --- PASS FGD1 2245 broad.mit.edu 37 X 54481902 54481902 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:54481902C>A uc004dtg.2 - 12 2728 c.1994G>T c.(1993-1995)CGC>CTC p.R665L FGD1_uc011moi.1_Missense_Mutation_p.R423L NM_004463 NP_004454 P98174 FGD1_HUMAN faciogenital dysplasia protein 665 PH 1. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(3)|skin(2)|central_nervous_system(1) 6 CTCGAGGGAGCGCTGCTTTCC 0.557 18 71 --- --- --- --- PASS PFKFB1 5207 broad.mit.edu 37 X 54984739 54984739 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:54984739C>A uc004dty.1 - 6 587 c.516G>T c.(514-516)AGG>AGT p.R172S PFKFB1_uc010nkd.1_Intron|PFKFB1_uc011mol.1_Missense_Mutation_p.R107S NM_002625 NP_002616 P16118 F261_HUMAN 6-phosphofructo-2-kinase/fructose-2, 172 6-phosphofructo-2-kinase. energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding ovary(1) 1 TGGTCCTTACCCTGATGTTTT 0.398 42 121 --- --- --- --- PASS PFKFB1 5207 broad.mit.edu 37 X 54984740 54984740 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:54984740C>A uc004dty.1 - 6 586 c.515G>T c.(514-516)AGG>ATG p.R172M PFKFB1_uc010nkd.1_Intron|PFKFB1_uc011mol.1_Missense_Mutation_p.R107M NM_002625 NP_002616 P16118 F261_HUMAN 6-phosphofructo-2-kinase/fructose-2, 172 6-phosphofructo-2-kinase. energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding ovary(1) 1 GGTCCTTACCCTGATGTTTTC 0.398 43 121 --- --- --- --- PASS ZXDA 7789 broad.mit.edu 37 X 57935969 57935969 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:57935969C>A uc004dve.2 - 1 1099 c.886G>T c.(886-888)GGC>TGC p.G296C NM_007156 NP_009087 P98168 ZXDA_HUMAN zinc finger, X-linked, duplicated A 296 Required for interaction with ZXDC. positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 GGCCTCTGGCCCTGGCTGCTG 0.632 11 34 --- --- --- --- PASS FAM123B 139285 broad.mit.edu 37 X 63411079 63411079 + Missense_Mutation SNP C G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:63411079C>G uc004dvo.2 - 2 2361 c.2088G>C c.(2086-2088)AGG>AGC p.R696S NM_152424 NP_689637 Q5JTC6 F123B_HUMAN family with sequence similarity 123B 696 Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane p.0?(40) kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1) 112 GACGGAAGTCCCTCCAGTCTG 0.552 32 101 --- --- --- --- PASS MTMR8 55613 broad.mit.edu 37 X 63444978 63444978 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:63444978G>T uc011mou.1 - 10 1746 c.1678C>A c.(1678-1680)CTC>ATC p.L560I ASB12_uc004dvp.1_Missense_Mutation_p.L176I|ASB12_uc004dvq.1_Missense_Mutation_p.L185I|ASB12_uc004dvr.1_Missense_Mutation_p.L185I NM_017677 NP_060147 Q96EF0 MTMR8_HUMAN myotubularin related protein 8 Error:Variant_position_missing_in_Q96EF0_after_alignment nuclear envelope protein tyrosine phosphatase activity ovary(2)|breast(2) 4 GCCAAATAGAGGGGGCCAGAA 0.557 24 71 --- --- --- --- PASS MTMR8 55613 broad.mit.edu 37 X 63488508 63488508 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:63488508G>T uc004dvs.2 - 14 2092 c.2024C>A c.(2023-2025)GCC>GAC p.A675D MTMR8_uc011mou.1_Intron NM_017677 NP_060147 Q96EF0 MTMR8_HUMAN myotubularin related protein 8 675 nuclear envelope protein tyrosine phosphatase activity ovary(2)|breast(2) 4 GAAACCCCTGGCCTCAGAAAT 0.542 62 140 --- --- --- --- PASS VSIG4 11326 broad.mit.edu 37 X 65252573 65252573 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:65252573G>T uc004dwh.2 - 3 558 c.431C>A c.(430-432)ACA>AAA p.T144K VSIG4_uc004dwi.2_Intron|VSIG4_uc010nkq.1_Missense_Mutation_p.T144K|VSIG4_uc004dwj.2_Missense_Mutation_p.T144K|VSIG4_uc011moy.1_Intron|VSIG4_uc004dwk.2_Missense_Mutation_p.T144K|VSIG4_uc004dwl.2_Missense_Mutation_p.T40K NM_007268 NP_009199 Q9Y279 VSIG4_HUMAN V-set and immunoglobulin domain containing 4 144 Ig-like 2.|Extracellular (Potential). complement activation, alternative pathway integral to membrane protein binding 0 AGTTGTCACTGTGGGCTTGGA 0.507 10 55 --- --- --- --- PASS STARD8 9754 broad.mit.edu 37 X 67937247 67937247 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:67937247G>T uc004dxa.2 + 5 623 c.251G>T c.(250-252)AGC>ATC p.S84I STARD8_uc004dxb.2_Missense_Mutation_p.S164I|STARD8_uc004dxc.3_Missense_Mutation_p.S84I NM_014725 NP_055540 Q92502 STAR8_HUMAN StAR-related lipid transfer (START) domain 84 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity breast(3)|ovary(2)|pancreas(1) 6 ATCACCGTGAGCCTACCACCC 0.682 7 46 --- --- --- --- PASS TAF1 6872 broad.mit.edu 37 X 70613229 70613229 + Missense_Mutation SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:70613229C>T uc004dzu.3 + 21 3178 c.3127C>T c.(3127-3129)CCC>TCC p.P1043S BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.P1064S|TAF1_uc004dzv.3_Missense_Mutation_p.P217S NM_138923 NP_620278 P21675 TAF1_HUMAN TBP-associated factor 1 isoform 2 1043 G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1) 17 Renal(35;0.156) all_lung(315;0.000321) TGGAGAGGGGCCCATGAGTAA 0.463 52 127 --- --- --- --- PASS OGT 8473 broad.mit.edu 37 X 70784604 70784604 + Splice_Site SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:70784604G>T uc004eaa.1 + 19 2806 c.2589_splice c.e19+1 p.N863_splice BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.1_Splice_Site_p.N853_splice|OGT_uc004eac.2_Splice_Site_p.N724_splice|OGT_uc004ead.2_Splice_Site_p.N482_splice NM_181672 NP_858058 O15294 OGT1_HUMAN O-linked GlcNAc transferase isoform 1 cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction cytosol|MLL5-L complex enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity ovary(3)|kidney(1)|pancreas(1) 5 Renal(35;0.156) GTGGGCAAACGTGAGTATGCA 0.408 47 142 --- --- --- --- PASS ATRX 546 broad.mit.edu 37 X 76938690 76938690 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:76938690C>A uc004ecp.3 - 9 2290 c.2058G>T c.(2056-2058)AAG>AAT p.K686N ATRX_uc004ecq.3_Missense_Mutation_p.K648N|ATRX_uc004eco.3_Missense_Mutation_p.K471N|ATRX_uc004ecr.2_Missense_Mutation_p.K618N|ATRX_uc010nlx.1_Missense_Mutation_p.K657N|ATRX_uc010nly.1_Missense_Mutation_p.K631N NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 686 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) TTTGTTTCTCCTTAACTGTTT 0.373 Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome 197 457 --- --- --- --- PASS CYSLTR1 10800 broad.mit.edu 37 X 77528615 77528615 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:77528615G>T uc004edb.2 - 3 1029 c.629C>A c.(628-630)ACA>AAA p.T210K CYSLTR1_uc010nma.2_Missense_Mutation_p.T210K|CYSLTR1_uc010nmb.2_Missense_Mutation_p.T210K NM_006639 NP_006630 Q9Y271 CLTR1_HUMAN cysteinyl leukotriene receptor 1 210 Helical; Name=5; (Potential). elevation of cytosolic calcium ion concentration|respiratory gaseous exchange integral to plasma membrane|membrane fraction leukotriene receptor activity ovary(1) 1 Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549) AATGATCATTGTGTAACAGAC 0.318 23 68 --- --- --- --- PASS BRWD3 254065 broad.mit.edu 37 X 79978191 79978191 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:79978191G>T uc004edt.2 - 17 2009 c.1746C>A c.(1744-1746)CAC>CAA p.H582Q BRWD3_uc004edo.2_Missense_Mutation_p.H178Q|BRWD3_uc004edp.2_Missense_Mutation_p.H411Q|BRWD3_uc004edq.2_Missense_Mutation_p.H178Q|BRWD3_uc010nmj.1_Missense_Mutation_p.H178Q|BRWD3_uc004edr.2_Missense_Mutation_p.H252Q|BRWD3_uc004eds.2_Missense_Mutation_p.H178Q|BRWD3_uc004edu.2_Missense_Mutation_p.H252Q|BRWD3_uc004edv.2_Missense_Mutation_p.H178Q|BRWD3_uc004edw.2_Missense_Mutation_p.H178Q|BRWD3_uc004edx.2_Missense_Mutation_p.H178Q|BRWD3_uc004edy.2_Missense_Mutation_p.H178Q|BRWD3_uc004edz.2_Missense_Mutation_p.H252Q|BRWD3_uc004eea.2_Missense_Mutation_p.H252Q|BRWD3_uc004eeb.2_Missense_Mutation_p.H178Q NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 582 ovary(4) 4 GAGGCATGAGGTGAGGAGCTT 0.428 58 160 --- --- --- --- PASS RPS6KA6 27330 broad.mit.edu 37 X 83390218 83390218 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:83390218C>A uc004eej.1 - 7 579 c.502G>T c.(502-504)GTT>TTT p.V168F RPS6KA6_uc011mqt.1_Missense_Mutation_p.V168F|RPS6KA6_uc011mqu.1_Missense_Mutation_p.V65F|RPS6KA6_uc010nmo.1_RNA NM_014496 NP_055311 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase polypeptide 6 168 Protein kinase 1. axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(5)|stomach(1)|central_nervous_system(1)|skin(1) 8 GTAAACAGAACCTAGAACAAA 0.333 13 38 --- --- --- --- PASS ZNF711 7552 broad.mit.edu 37 X 84526181 84526181 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:84526181C>A uc004eeo.2 + 9 1980 c.1633C>A c.(1633-1635)CAA>AAA p.Q545K ZNF711_uc004eep.2_Missense_Mutation_p.Q545K|ZNF711_uc004eeq.2_Missense_Mutation_p.Q591K|ZNF711_uc011mqy.1_Missense_Mutation_p.Q144K NM_021998 NP_068838 Q9Y462 ZN711_HUMAN zinc finger protein 711 545 C2H2-type 5. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding ovary(3)|skin(1) 4 GTGTGCAGATCAATCAAATCT 0.393 34 55 --- --- --- --- PASS PCDH11X 27328 broad.mit.edu 37 X 91133298 91133298 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:91133298C>A uc004efk.1 + 2 2904 c.2059C>A c.(2059-2061)CCG>ACG p.P687T PCDH11X_uc004efl.1_Missense_Mutation_p.P687T|PCDH11X_uc004efo.1_Missense_Mutation_p.P687T|PCDH11X_uc010nmv.1_Missense_Mutation_p.P687T|PCDH11X_uc004efm.1_Missense_Mutation_p.P687T|PCDH11X_uc004efn.1_Missense_Mutation_p.P687T|PCDH11X_uc004efh.1_Missense_Mutation_p.P687T|PCDH11X_uc004efj.1_Missense_Mutation_p.P687T NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 687 Cadherin 7.|Extracellular (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 ATTGGTTCTACCGTCCACTAA 0.423 64 273 --- --- --- --- PASS DRP2 1821 broad.mit.edu 37 X 100490873 100490873 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:100490873G>T uc004egz.2 + 4 511 c.142G>T c.(142-144)GCA>TCA p.A48S DRP2_uc011mrh.1_5'UTR NM_001939 NP_001930 Q13474 DRP2_HUMAN dystrophin related protein 2 48 central nervous system development cytoplasm|cytoskeleton zinc ion binding ovary(2) 2 CACCAGCCCTGCACCTCCTCA 0.557 101 298 --- --- --- --- PASS ARMCX3 51566 broad.mit.edu 37 X 100880053 100880053 + Silent SNP T C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:100880053T>C uc004ehz.1 + 5 617 c.84T>C c.(82-84)ACT>ACC p.T28T ARMCX3_uc004eia.1_Silent_p.T28T|ARMCX3_uc004eib.1_Silent_p.T28T|ARMCX3_uc004eic.1_Silent_p.T28T NM_016607 NP_057691 Q9UH62 ARMX3_HUMAN armadillo repeat containing, X-linked 3 28 Helical; (Potential). integral to membrane binding ovary(1)|lung(1) 2 ATAGACTGACTAGGGGAAGAA 0.542 66 177 --- --- --- --- PASS ARMCX2 9823 broad.mit.edu 37 X 100912230 100912230 + Silent SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:100912230G>T uc004eid.2 - 3 700 c.345C>A c.(343-345)GCC>GCA p.A115A ARMCX2_uc004eie.3_Silent_p.A115A|ARMCX2_uc004eif.3_Silent_p.A115A|ARMCX2_uc004eig.3_Silent_p.A115A|ARMCX2_uc010nnt.2_Silent_p.A115A NM_177949 NP_808818 Q7L311 ARMX2_HUMAN ALEX2 protein 115 Ala-rich. integral to membrane binding ovary(6) 6 CTGCCTCTTGGGCCTGACTGC 0.642 46 169 --- --- --- --- PASS GPRASP1 9737 broad.mit.edu 37 X 101908916 101908916 + Silent SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:101908916G>T uc004ejj.3 + 5 876 c.75G>T c.(73-75)GGG>GGT p.G25G GPRASP1_uc004eji.3_Silent_p.G25G|GPRASP1_uc010nod.2_Silent_p.G25G NM_014710 NP_055525 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting 25 cytoplasm protein binding ovary(1)|lung(1) 2 TTGTAGGTGGGGCTGAGATAG 0.522 98 332 --- --- --- --- PASS PLP1 5354 broad.mit.edu 37 X 103041628 103041628 + Silent SNP G A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:103041628G>A uc010nov.2 + 4 706 c.426G>A c.(424-426)TTG>TTA p.L142L RAB9B_uc004eli.1_Intron|PLP1_uc004elk.2_Silent_p.L142L|PLP1_uc004elj.2_Intron|PLP1_uc011msf.1_Silent_p.L87L|PLP1_uc010now.1_Silent_p.L146L|PLP1_uc010nox.2_Silent_p.L96L NM_001128834 NP_001122306 P60201 MYPR_HUMAN proteolipid protein 1 isoform 1 142 Cytoplasmic (Probable). Missing (in HLD1). cell death|synaptic transmission integral to membrane ovary(1) 1 GTCATTGTTTGGGAAAATGGC 0.567 81 299 --- --- --- --- PASS TEX13A 56157 broad.mit.edu 37 X 104464792 104464792 + Missense_Mutation SNP G A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:104464792G>A uc004ema.2 - 2 402 c.290C>T c.(289-291)GCC>GTC p.A97V IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.2_Missense_Mutation_p.A97V NM_031274 NP_112564 Q9BXU3 TX13A_HUMAN testis expressed sequence 13A 97 intracellular zinc ion binding ovary(2) 2 GTGCAGTTTGGCGAAGCCGTG 0.632 27 57 --- --- --- --- PASS NRK 203447 broad.mit.edu 37 X 105152799 105152799 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:105152799C>A uc004emd.2 + 13 1469 c.1166C>A c.(1165-1167)CCC>CAC p.P389H NRK_uc010npc.1_Missense_Mutation_p.P57H NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Nik related kinase 389 ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1) 14 CATGGGGAACCCTCTCAGCCA 0.542 HNSCC(51;0.14) 24 120 --- --- --- --- PASS NRK 203447 broad.mit.edu 37 X 105153311 105153311 + Nonsense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:105153311G>T uc004emd.2 + 13 1981 c.1678G>T c.(1678-1680)GAG>TAG p.E560* NRK_uc010npc.1_Nonsense_Mutation_p.E228* NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Nik related kinase 560 Gln-rich. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1) 14 TGAACAGCCAGAGGTACAGGA 0.572 HNSCC(51;0.14) 5 18 --- --- --- --- PASS COL4A5 1287 broad.mit.edu 37 X 107840243 107840243 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:107840243C>A uc004enz.1 + 23 1734 c.1532C>A c.(1531-1533)CCT>CAT p.P511H COL4A5_uc011mso.1_Missense_Mutation_p.P511H|COL4A5_uc004eob.1_Missense_Mutation_p.P119H NM_033380 NP_203699 P29400 CO4A5_HUMAN type IV collagen alpha 5 isoform 2 precursor 511 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding ovary(3)|central_nervous_system(1) 4 CTTGGTTTCCCTGGACAGAAA 0.328 Alport_syndrome_with_Diffuse_Leiomyomatosis 13 27 --- --- --- --- PASS GUCY2F 2986 broad.mit.edu 37 X 108636237 108636237 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:108636237C>A uc004eod.3 - 13 2748 c.2472G>T c.(2470-2472)ATG>ATT p.M824I GUCY2F_uc011msq.1_RNA NM_001522 NP_001513 P51841 GUC2F_HUMAN guanylate cyclase 2F precursor 824 Cytoplasmic (Potential). intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity lung(4)|breast(3)|central_nervous_system(1) 8 ACATCCGAAGCATAGAATCAA 0.353 79 339 --- --- --- --- PASS GUCY2F 2986 broad.mit.edu 37 X 108719023 108719023 + Missense_Mutation SNP A T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:108719023A>T uc004eod.3 - 2 419 c.143T>A c.(142-144)GTG>GAG p.V48E GUCY2F_uc011msq.1_RNA NM_001522 NP_001513 P51841 GUC2F_HUMAN guanylate cyclase 2F precursor 48 intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity lung(4)|breast(3)|central_nervous_system(1) 8 GAGTGTCCACACCTGCTGCGG 0.562 OREG0019905 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 43 176 --- --- --- --- PASS LHFPL1 340596 broad.mit.edu 37 X 111914544 111914544 + Silent SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:111914544G>T uc004epq.2 - 2 408 c.75C>A c.(73-75)ACC>ACA p.T25T LHFPL1_uc004epp.2_Silent_p.T48T|LHFPL1_uc010nqa.2_Intron|LHFPL1_uc010nqb.2_Silent_p.T25T NM_178175 NP_835469 Q86WI0 LHPL1_HUMAN lipoma HMGIC fusion partner-like 1 precursor 25 integral to membrane 0 GGAAGTAACTGGTAGAACTGG 0.562 150 460 --- --- --- --- PASS CUL4B 8450 broad.mit.edu 37 X 119693974 119693974 + Missense_Mutation SNP C G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:119693974C>G uc004esw.2 - 3 1011 c.574G>C c.(574-576)GGC>CGC p.G192R CUL4B_uc004esv.2_Missense_Mutation_p.G174R NM_003588 NP_003579 Q13620 CUL4B_HUMAN cullin 4B isoform 1 192 Ser-rich. cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding lung(1)|central_nervous_system(1)|pancreas(1) 3 TTAGCAGAGCCAGGTTTGCTG 0.428 50 188 --- --- --- --- PASS MCTS1 28985 broad.mit.edu 37 X 119742191 119742191 + Missense_Mutation SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:119742191C>T uc004esx.2 + 4 722 c.374C>T c.(373-375)CCT>CTT p.P125L MCTS1_uc011mub.1_Missense_Mutation_p.P126L NM_014060 NP_054779 Q9ULC4 MCTS1_HUMAN malignant T cell amplified sequence 1 isoform 1 125 PUA. cell cycle|positive regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm RNA binding 0 AAGCTTTACCCTGCTGCAGTA 0.433 17 242 --- --- --- --- PASS ODZ1 10178 broad.mit.edu 37 X 123587186 123587186 + Splice_Site SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:123587186C>A uc004euj.2 - 22 4147 c.4083_splice c.e22+1 p.Q1361_splice ODZ1_uc011muj.1_Splice_Site_p.Q1367_splice|ODZ1_uc010nqy.2_Splice_Site_p.Q1368_splice NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 GTGATGCCTACCTGAGTGATG 0.408 51 168 --- --- --- --- PASS ODZ1 10178 broad.mit.edu 37 X 123615585 123615585 + Missense_Mutation SNP G C C TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:123615585G>C uc004euj.2 - 21 3989 c.3925C>G c.(3925-3927)CGA>GGA p.R1309G ODZ1_uc011muj.1_Missense_Mutation_p.R1315G|ODZ1_uc010nqy.2_Missense_Mutation_p.R1316G NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 1309 NHL 2.|Extracellular (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 tttttaCCTCGAGGGCTATTC 0.393 22 92 --- --- --- --- PASS ODZ1 10178 broad.mit.edu 37 X 124030047 124030047 + Nonsense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:124030047G>T uc004euj.2 - 2 325 c.261C>A c.(259-261)TAC>TAA p.Y87* ODZ1_uc011muj.1_Nonsense_Mutation_p.Y87*|ODZ1_uc010nqy.2_Nonsense_Mutation_p.Y87* NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 87 Teneurin N-terminal.|Cytoplasmic (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 TGTCTGTTTGGTAGCCAGAGC 0.478 82 285 --- --- --- --- PASS ACTRT1 139741 broad.mit.edu 37 X 127185842 127185842 + Missense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:127185842G>T uc004eum.2 - 1 541 c.344C>A c.(343-345)CCT>CAT p.P115H NM_138289 NP_612146 Q8TDG2 ACTT1_HUMAN actin-related protein T1 115 cytoplasm|cytoskeleton ovary(2)|central_nervous_system(2)|skin(1) 5 AATTTCCCTAGGATTCAAAGA 0.483 169 658 --- --- --- --- PASS UTP14A 10813 broad.mit.edu 37 X 129058809 129058809 + Silent SNP C T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:129058809C>T uc004euz.2 + 12 1415 c.1387C>T c.(1387-1389)CTA>TTA p.L463L UTP14A_uc011mup.1_Silent_p.L411L|UTP14A_uc011muq.1_Silent_p.L409L NM_006649 NP_006640 Q9BVJ6 UT14A_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, 463 rRNA processing nucleolus|small-subunit processome protein binding ovary(2) 2 ATTGAGAGTACTATCTCAGAA 0.448 178 548 --- --- --- --- PASS UTP14A 10813 broad.mit.edu 37 X 129059948 129059948 + Silent SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:129059948G>T uc004euz.2 + 13 1831 c.1803G>T c.(1801-1803)GGG>GGT p.G601G UTP14A_uc011mup.1_Silent_p.G549G|UTP14A_uc011muq.1_Silent_p.G547G NM_006649 NP_006640 Q9BVJ6 UT14A_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, 601 rRNA processing nucleolus|small-subunit processome protein binding ovary(2) 2 CTTTTGCTGGGGATGATGTCA 0.507 OREG0019920 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 48 --- --- --- --- PASS BCORL1 63035 broad.mit.edu 37 X 129148793 129148793 + Missense_Mutation SNP C G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:129148793C>G uc004evb.1 + 4 2159 c.2045C>G c.(2044-2046)TCC>TGC p.S682C BCORL1_uc010nrd.1_Missense_Mutation_p.S584C NM_021946 NP_068765 Q5H9F3 BCORL_HUMAN BCL6 co-repressor-like 1 682 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ovary(4)|breast(2)|lung(1) 7 TGCCTGGGCTCCACTTCCTCG 0.607 30 117 --- --- --- --- PASS IGSF1 3547 broad.mit.edu 37 X 130413316 130413316 + Splice_Site SNP C G G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:130413316C>G uc004ewd.2 - 10 1885 c.1647_splice c.e10-1 p.R549_splice IGSF1_uc004ewe.3_Splice_Site_p.R538_splice|IGSF1_uc004ewf.2_Splice_Site_p.R529_splice NM_001555 NP_001546 Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 isoform 1 regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding ovary(3)|lung(1)|central_nervous_system(1) 5 CCAGGCTTCTCTAGTGAGACC 0.562 25 90 --- --- --- --- PASS MOSPD1 56180 broad.mit.edu 37 X 134025618 134025618 + Silent SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:134025618C>A uc004eyb.2 - 5 688 c.501G>T c.(499-501)GTG>GTT p.V167V MOSPD1_uc004eya.2_Intron|MOSPD1_uc010nrv.2_RNA NM_019556 NP_062456 Q9UJG1 MSPD1_HUMAN motile sperm domain containing 1 167 Helical; (Potential). negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter integral to membrane|nucleus|perinuclear region of cytoplasm structural molecule activity ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(192;0.000127) CAATGCACACCACTCCCAGGA 0.448 67 187 --- --- --- --- PASS ZIC3 7547 broad.mit.edu 37 X 136648863 136648863 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:136648863C>A uc004fak.2 + 1 518 c.13C>A c.(13-15)CTG>ATG p.L5M NM_003413 NP_003404 O60481 ZIC3_HUMAN zinc finger protein of the cerebellum 3 5 cell differentiation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|breast(1) 3 Acute lymphoblastic leukemia(192;0.000127) GACGATGCTCCTGGACGGAGG 0.672 6 12 --- --- --- --- PASS SPANXN1 494118 broad.mit.edu 37 X 144337227 144337227 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:144337227C>A uc004fcb.2 + 2 112 c.112C>A c.(112-114)CCG>ACG p.P38T NM_001009614 NP_001009614 Q5VSR9 SPXN1_HUMAN SPANX-N1 protein 38 0 Acute lymphoblastic leukemia(192;6.56e-05) AGCCCCCGAACCGAGTTTGAA 0.403 47 166 --- --- --- --- PASS PRRG3 79057 broad.mit.edu 37 X 150869319 150869319 + Silent SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:150869319G>T uc004few.1 + 4 900 c.510G>T c.(508-510)CGG>CGT p.R170R NM_024082 NP_076987 Q9BZD7 TMG3_HUMAN proline rich Gla (G-carboxyglutamic acid) 3 170 Cytoplasmic (Potential). extracellular region|integral to membrane calcium ion binding ovary(3)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) CCACAGTCCGGCTAGAGAGCA 0.662 25 68 --- --- --- --- PASS MAGEA4 4103 broad.mit.edu 37 X 151093079 151093079 + Nonsense_Mutation SNP G T T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:151093079G>T uc004fez.2 + 3 1099 c.943G>T c.(943-945)GAG>TAG p.E315* MAGEA4_uc004ffa.2_Nonsense_Mutation_p.E315*|MAGEA4_uc004ffb.2_Nonsense_Mutation_p.E315*|MAGEA4_uc004ffc.2_Nonsense_Mutation_p.E315*|MAGEA4_uc004ffd.2_Nonsense_Mutation_p.E315* NM_002362 NP_002353 P43358 MAGA4_HUMAN melanoma antigen family A, 4 315 protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) AGAGGAGGAAGAGGGAGTCTG 0.572 64 202 --- --- --- --- PASS PDZD4 57595 broad.mit.edu 37 X 153073817 153073817 + Missense_Mutation SNP C A A TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chrX:153073817C>A uc004fiz.1 - 2 544 c.294G>T c.(292-294)GAG>GAT p.E98D PDZD4_uc004fiy.1_Missense_Mutation_p.E17D|PDZD4_uc004fix.2_5'UTR|PDZD4_uc004fja.1_Missense_Mutation_p.E98D|PDZD4_uc011mze.1_Intron NM_032512 NP_115901 Q76G19 PDZD4_HUMAN PDZ domain containing 4 98 cell cortex breast(1) 1 all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGACGTACGGCTCCAGGATGA 0.672 23 59 --- --- --- --- PASS SP4 6671 broad.mit.edu 37 7 21468304 21468306 + In_Frame_Del DEL AGG - - TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr7:21468304_21468306delAGG uc003sva.2 + 2 198_200 c.17_19delAGG c.(16-21)AAGGAG>AAG p.E11del SP4_uc003svb.2_5'UTR NM_003112 NP_003103 Q02446 SP4_HUMAN Sp4 transcription factor 11 Poly-Glu. regulation of transcription from RNA polymerase II promoter nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(3)|skin(2) 5 GATCAGAAGAAGGAGGAGGAGGA 0.517 4 2 --- --- --- --- NOS1 4842 broad.mit.edu 37 12 117672527 117672527 + Frame_Shift_Del DEL C - - TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 9e300205-b16d-4f40-bf1b-f47410678f6d 851d0399-7892-4cd8-af4b-5d3f1bf19b07 g.chr12:117672527delC uc001twm.1 - 21 3764 c.3078delG c.(3076-3078)GGGfs p.G1026fs NM_000620 NP_000611 P29475 NOS1_HUMAN nitric oxide synthase 1, neuronal 1026 FAD-binding FR-type. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding ovary(3)|skin(3)|pancreas(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) GCTCCTGGCTCCCGTTGGTGT 0.587 77 34 --- --- --- ---