Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele filter SCNN1D 6339 broad.mit.edu 37 1 1222541 1222541 + Missense_Mutation SNP C T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr1:1222541C>T uc001adu.1 + 8 1304 c.680C>T c.(679-681)GCG>GTG p.A227V SCNN1D_uc001adt.1_Missense_Mutation_p.A391V|SCNN1D_uc001adw.2_Missense_Mutation_p.A293V|SCNN1D_uc001adx.2_5'UTR|SCNN1D_uc001adv.2_Missense_Mutation_p.A227V NM_002978 NP_002969 sodium channel, nonvoltage-gated 1, delta 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) TCAGGCGTGGCGGCTGTCCAG 0.662 3 41 --- --- --- --- PASS PTCHD2 57540 broad.mit.edu 37 1 11595162 11595162 + Silent SNP C G G TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr1:11595162C>G uc001ash.3 + 19 3768 c.3630C>G c.(3628-3630)CCC>CCG p.P1210P NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN patched domain containing 2 1210 Helical; (Potential). cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity skin(3)|ovary(2)|pancreas(1)|breast(1) 7 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) TCCTGCTGCCCGTGCTCCTCA 0.682 4 11 --- --- --- --- PASS C1orf173 127254 broad.mit.edu 37 1 75039113 75039113 + Missense_Mutation SNP G T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr1:75039113G>T uc001dgg.2 - 14 2500 c.2281C>A c.(2281-2283)CAA>AAA p.Q761K NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 761 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 TGCACCAATTGCTGGGATTCC 0.403 50 92 --- --- --- --- PASS PAPPA2 60676 broad.mit.edu 37 1 176564599 176564599 + Missense_Mutation SNP C T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr1:176564599C>T uc001gkz.2 + 3 3023 c.1859C>T c.(1858-1860)TCC>TTC p.S620F PAPPA2_uc001gky.1_Missense_Mutation_p.S620F|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 620 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 CGCTGCTACTCCTGGAACCGC 0.607 34 94 --- --- --- --- PASS CHIT1 1118 broad.mit.edu 37 1 203188832 203188832 + Missense_Mutation SNP C A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr1:203188832C>A uc001gzn.2 - 8 971 c.875G>T c.(874-876)GGC>GTC p.G292V FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_RNA|CHIT1_uc009xal.1_Missense_Mutation_p.G83V|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Missense_Mutation_p.G283V NM_003465 NP_003456 Q13231 CHIT1_HUMAN chitotriosidase precursor 292 chitin catabolic process|immune response|response to bacterium extracellular space|lysosome cation binding|chitin binding|endochitinase activity 0 GGTGAAGGGGCCTGGAGTGCC 0.587 46 149 --- --- --- --- PASS ANGEL2 90806 broad.mit.edu 37 1 213181649 213181649 + Missense_Mutation SNP T C C TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr1:213181649T>C uc001hjz.2 - 3 700 c.545A>G c.(544-546)GAT>GGT p.D182G ANGEL2_uc010pto.1_Missense_Mutation_p.D56G|ANGEL2_uc010ptp.1_Missense_Mutation_p.D56G|ANGEL2_uc001hka.2_Missense_Mutation_p.D13G|ANGEL2_uc010ptq.1_RNA|ANGEL2_uc001hkb.2_Missense_Mutation_p.D160G NM_144567 NP_653168 Q5VTE6 ANGE2_HUMAN LOC90806 protein 182 0 OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185) GTGAGAGTTATCTTCCAGTAA 0.363 39 89 --- --- --- --- PASS AIDA 64853 broad.mit.edu 37 1 222867551 222867551 + Splice_Site SNP C A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr1:222867551C>A uc001hnn.2 - 3 439 c.234_splice c.e3+1 p.Q78_splice AIDA_uc001hno.2_Splice_Site|AIDA_uc010pus.1_Splice_Site_p.Q54_splice NM_022831 NP_073742 Q96BJ3 AIDA_HUMAN axin interactor, dorsalization associated dorsal/ventral pattern formation|negative regulation of JNK cascade|negative regulation of JUN kinase activity|regulation of protein homodimerization activity 0 AAACTCCTTACCTGTAAAGCT 0.318 145 99 --- --- --- --- PASS C1orf65 164127 broad.mit.edu 37 1 223566951 223566951 + Missense_Mutation SNP G T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr1:223566951G>T uc001hoa.2 + 1 237 c.134G>T c.(133-135)CGG>CTG p.R45L NM_152610 NP_689823 Q8N715 CA065_HUMAN hypothetical protein LOC164127 45 central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(131;0.0704) GCGTGCTCCCGGGCCGGGACT 0.731 6 25 --- --- --- --- PASS CAPN9 10753 broad.mit.edu 37 1 230903311 230903311 + Silent SNP G A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr1:230903311G>A uc001htz.1 + 5 674 c.561G>A c.(559-561)CTG>CTA p.L187L CAPN9_uc009xfg.1_Silent_p.L124L|CAPN9_uc001hua.1_Silent_p.L187L NM_006615 NP_006606 O14815 CAN9_HUMAN calpain 9 isoform 1 187 Calpain catalytic. digestion|proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity ovary(1) 1 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) ATGAAGCTCTGAAGGGAGGCA 0.562 50 134 --- --- --- --- PASS IRF2BP2 359948 broad.mit.edu 37 1 234742956 234742956 + Missense_Mutation SNP C A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr1:234742956C>A uc001hwg.2 - 2 1722 c.1691G>T c.(1690-1692)TGG>TTG p.W564L IRF2BP2_uc009xfw.2_Missense_Mutation_p.W174L|IRF2BP2_uc001hwf.2_Missense_Mutation_p.W548L NM_182972 NP_892017 Q7Z5L9 I2BP2_HUMAN interferon regulatory factor 2 binding protein 2 564 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 Ovarian(103;0.0303) all_cancers(173;0.0236)|Prostate(94;0.0115) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05) CATAAAGGCCCAGGGGACATT 0.488 192 132 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237806748 237806748 + Splice_Site SNP G C C TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr1:237806748G>C uc001hyl.1 + 48 7462 c.7342_splice c.e48+1 p.D2448_splice NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 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) ATAGCCAAAGGTAAGGCCAAC 0.438 5 168 --- --- --- --- PASS APOB 338 broad.mit.edu 37 2 21237993 21237993 + Silent SNP G A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr2:21237993G>A uc002red.2 - 23 3776 c.3648C>T c.(3646-3648)GTC>GTT p.V1216V NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 1216 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) CTGTTTGAGGGACTCTGTGAT 0.388 79 238 --- --- --- --- PASS PLB1 151056 broad.mit.edu 37 2 28771759 28771759 + Missense_Mutation SNP G C C TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr2:28771759G>C uc002rmb.1 + 15 969 c.969G>C c.(967-969)TTG>TTC p.L323F PLB1_uc010ezj.1_Missense_Mutation_p.L334F|PLB1_uc002rmc.2_Missense_Mutation_p.L11F NM_153021 NP_694566 Q6P1J6 PLB1_HUMAN phospholipase B1 precursor 323 4 X 308-326 AA approximate repeats.|Extracellular (Potential).|1. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity ovary(4)|large_intestine(2)|skin(2)|breast(1) 9 Acute lymphoblastic leukemia(172;0.155) ATGAGCCATTGAGTGTAAAAC 0.547 4 57 --- --- --- --- PASS NRXN1 9378 broad.mit.edu 37 2 50724591 50724591 + Missense_Mutation SNP G T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr2:50724591G>T uc010fbq.2 - 14 4356 c.2879C>A c.(2878-2880)ACC>AAC p.T960N NRXN1_uc002rxb.3_Missense_Mutation_p.T592N|NRXN1_uc002rxe.3_Missense_Mutation_p.T920N|NRXN1_uc002rxc.1_RNA NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor Error:Variant_position_missing_in_P58400_after_alignment angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) GGCTTGCAAGGTAGCTAAGGC 0.398 16 76 --- --- --- --- PASS USP34 9736 broad.mit.edu 37 2 61510333 61510333 + Missense_Mutation SNP C G G TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr2:61510333C>G uc002sbe.2 - 37 4967 c.4945G>C c.(4945-4947)GAT>CAT p.D1649H USP34_uc002sbf.2_5'Flank NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN ubiquitin specific protease 34 1649 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1) 19 Epithelial(17;0.229) TGATCGCTATCAGCAAGGCTA 0.338 26 202 --- --- --- --- PASS RGPD1 400966 broad.mit.edu 37 2 87214094 87214094 + Nonsense_Mutation SNP A T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr2:87214094A>T uc010fgv.2 + 20 4139 c.4072A>T c.(4072-4074)AGA>TGA p.R1358* RMND5A_uc002srs.3_Intron|RGPD1_uc002ssb.2_Nonsense_Mutation_p.R1347*|RGPD1_uc002ssc.2_Nonsense_Mutation_p.R615* NM_001024457 NP_001019628 Q68DN6 RGPD1_HUMAN RANBP2-like and GRIP domain containing 1 1350 RanBD1 2. intracellular transport binding 0 AGAACTCTACAGATATGATAA 0.358 111 242 --- --- --- --- PASS SLC5A7 60482 broad.mit.edu 37 2 108608587 108608587 + Silent SNP C T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr2:108608587C>T uc002tdv.2 + 3 480 c.204C>T c.(202-204)ATC>ATT p.I68I SLC5A7_uc010ywm.1_5'UTR|SLC5A7_uc010fjj.2_Silent_p.I68I|SLC5A7_uc010ywn.1_5'UTR NM_021815 NP_068587 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (choline transporter), 68 Helical; (Potential). acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity ovary(2)|central_nervous_system(1)|skin(1) 4 Choline(DB00122) GAGGGTATATCAATGGCACAG 0.393 25 89 --- --- --- --- PASS THSD7B 80731 broad.mit.edu 37 2 137814256 137814256 + Missense_Mutation SNP C T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr2:137814256C>T uc002tva.1 + 2 313 c.313C>T c.(313-315)CAT>TAT p.H105Y THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_5'UTR NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) GACGGCTCAGCATGGACTGCA 0.542 29 89 --- --- --- --- PASS THSD7B 80731 broad.mit.edu 37 2 138000107 138000107 + Missense_Mutation SNP G T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr2:138000107G>T uc002tva.1 + 9 2138 c.2138G>T c.(2137-2139)AGT>ATT p.S713I THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.S603I NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) ACTGCTTTCAGTGAGTGGACA 0.463 35 66 --- --- --- --- PASS OSBPL6 114880 broad.mit.edu 37 2 179201135 179201135 + Silent SNP G T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr2:179201135G>T uc002ulx.2 + 9 1143 c.765G>T c.(763-765)TCG>TCT p.S255S OSBPL6_uc002ulw.2_Silent_p.S255S|OSBPL6_uc002uly.2_Silent_p.S255S|OSBPL6_uc010zfe.1_Silent_p.S255S|OSBPL6_uc002ulz.2_Silent_p.S255S|OSBPL6_uc002uma.2_Silent_p.S234S NM_032523 NP_115912 Q9BZF3 OSBL6_HUMAN oxysterol-binding protein-like protein 6 isoform 255 lipid transport lipid binding pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) TACAGGACTCGGAAGAGATGG 0.507 93 213 --- --- --- --- PASS CCDC141 285025 broad.mit.edu 37 2 179736975 179736975 + Missense_Mutation SNP T C C TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr2:179736975T>C uc002unf.1 - 3 296 c.239A>G c.(238-240)AAC>AGC p.N80S NM_173648 NP_775919 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 80 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) TGCTTTCTGGTTTTCCATGGT 0.413 31 101 --- --- --- --- PASS PTH2R 5746 broad.mit.edu 37 2 209358341 209358341 + Missense_Mutation SNP C A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr2:209358341C>A uc002vdb.2 + 13 1823 c.1610C>A c.(1609-1611)CCA>CAA p.P537Q PTH2R_uc010zjb.1_Missense_Mutation_p.P548Q|PTH2R_uc010fuo.1_Intron NM_005048 NP_005039 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor precursor 537 Cytoplasmic (Potential). integral to plasma membrane parathyroid hormone receptor activity ovary(1)|breast(1)|skin(1) 3 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) GAATCTAACCCAGACACTGAA 0.507 40 132 --- --- --- --- PASS FN1 2335 broad.mit.edu 37 2 216296577 216296577 + Missense_Mutation SNP C G G TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr2:216296577C>G uc002vfa.2 - 4 792 c.526G>C c.(526-528)GAA>CAA p.E176Q FN1_uc002vfb.2_Missense_Mutation_p.E176Q|FN1_uc002vfc.2_Missense_Mutation_p.E176Q|FN1_uc002vfd.2_Missense_Mutation_p.E176Q|FN1_uc002vfe.2_Missense_Mutation_p.E176Q|FN1_uc002vff.2_Missense_Mutation_p.E176Q|FN1_uc002vfg.2_Missense_Mutation_p.E176Q|FN1_uc002vfh.2_Missense_Mutation_p.E176Q|FN1_uc002vfi.2_Missense_Mutation_p.E176Q|FN1_uc002vfj.2_Missense_Mutation_p.E176Q|FN1_uc002vfl.2_Missense_Mutation_p.E176Q NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein 176 Fibrin- and heparin-binding 1.|Fibronectin type-I 3. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1) 13 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CAGGTCCATTCTCCTTTTCCA 0.488 10 312 --- --- --- --- PASS SPP2 6694 broad.mit.edu 37 2 234975204 234975204 + Missense_Mutation SNP C G G TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr2:234975204C>G uc002vvk.1 + 5 557 c.472C>G c.(472-474)CAT>GAT p.H158D SPP2_uc010fyl.1_Missense_Mutation_p.H78D NM_006944 NP_008875 Q13103 SPP24_HUMAN secreted phosphoprotein 2, 24kDa precursor 158 bone remodeling|skeletal system development extracellular region endopeptidase inhibitor activity 0 Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182) Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846) GTTGGGATCTCATAAATGGAG 0.313 30 138 --- --- --- --- PASS HDAC4 9759 broad.mit.edu 37 2 240055998 240055998 + Missense_Mutation SNP G C C TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr2:240055998G>C uc002vyk.3 - 11 2029 c.1237C>G c.(1237-1239)CTT>GTT p.L413V HDAC4_uc010fyz.1_Missense_Mutation_p.L408V|HDAC4_uc010zoa.1_Missense_Mutation_p.L408V|HDAC4_uc010fza.2_Missense_Mutation_p.L413V|HDAC4_uc010fyy.2_Missense_Mutation_p.L365V|HDAC4_uc010znz.1_Missense_Mutation_p.L296V|HDAC4_uc010fzb.1_RNA NM_006037 NP_006028 P56524 HDAC4_HUMAN histone deacetylase 4 413 B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|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)|potassium ion binding|repressing transcription factor binding|zinc ion binding breast(3)|skin(2)|ovary(1) 6 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) TGCTGCAGAAGAGGGCTGTGC 0.667 17 44 --- --- --- --- PASS CTNNB1 1499 broad.mit.edu 37 3 41266698 41266698 + Missense_Mutation SNP G T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr3:41266698G>T uc010hia.1 + 5 651 c.495G>T c.(493-495)CAG>CAT p.Q165H CTNNB1_uc003ckp.2_Missense_Mutation_p.Q165H|CTNNB1_uc003ckq.2_Missense_Mutation_p.Q165H|CTNNB1_uc003ckr.2_Missense_Mutation_p.Q165H|CTNNB1_uc011azf.1_Missense_Mutation_p.Q158H|CTNNB1_uc011azg.1_Missense_Mutation_p.Q93H|uc010hib.1_5'Flank NM_001904 NP_001895 P35222 CTNB1_HUMAN beta-catenin 165 ARM 1. adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding p.M1_V173del(1)|p.I35_K170del(1) CTNNB1/PLAG1(60) liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1) 3166 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) ACGAGGACCAGGTAAGCAATG 0.398 15 H|Mis|T PLAG1 colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma Pilomatrixoma_Familial_Clustering_of 38 78 --- --- --- --- PASS BSN 8927 broad.mit.edu 37 3 49690377 49690377 + Missense_Mutation SNP C A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr3:49690377C>A uc003cxe.3 + 5 3502 c.3388C>A c.(3388-3390)CCC>ACC p.P1130T NM_003458 NP_003449 Q9UPA5 BSN_HUMAN bassoon protein 1130 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CTCACCCTCACCCTCCCTTGA 0.612 52 121 --- --- --- --- PASS CACNA2D2 9254 broad.mit.edu 37 3 50402576 50402576 + Silent SNP G C C TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr3:50402576G>C uc003daq.2 - 37 3197 c.3159C>G c.(3157-3159)CTC>CTG p.L1053L CACNA2D2_uc003dap.2_Silent_p.L1046L|CACNA2D2_uc003dao.2_Missense_Mutation_p.L92V NM_006030 NP_006021 Q9NY47 CA2D2_HUMAN calcium channel, voltage-dependent, alpha 1053 Extracellular (Potential). energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) Gabapentin(DB00996) CCACCACAAAGAGAAGATTGG 0.562 20 42 --- --- --- --- PASS CADPS 8618 broad.mit.edu 37 3 62518672 62518672 + Missense_Mutation SNP C A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr3:62518672C>A uc003dll.2 - 13 2525 c.2165G>T c.(2164-2166)CGG>CTG p.R722L CADPS_uc003dlk.1_Missense_Mutation_p.R226L|CADPS_uc003dlm.2_Missense_Mutation_p.R722L|CADPS_uc003dln.2_Missense_Mutation_p.R705L NM_003716 NP_003707 Q9ULU8 CAPS1_HUMAN Ca2+-dependent secretion activator isoform 1 722 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding central_nervous_system(2)|ovary(1) 3 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) GTGACACCCCCGGACTCCATT 0.493 47 151 --- --- --- --- PASS SHQ1 55164 broad.mit.edu 37 3 72891517 72891517 + Missense_Mutation SNP C T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr3:72891517C>T uc003dpf.2 - 3 352 c.245G>A c.(244-246)GGC>GAC p.G82D SHQ1_uc010hod.2_5'UTR NM_018130 NP_060600 Q6PI26 SHQ1_HUMAN SHQ1 homolog 82 CS. ribonucleoprotein complex assembly cytosol|nucleoplasm protein binding ovary(2)|large_intestine(1) 3 Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204) BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213) AAAATGCTGGCCAGGGGTTTC 0.328 40 90 --- --- --- --- PASS PDZRN3 23024 broad.mit.edu 37 3 73433433 73433433 + Nonsense_Mutation SNP C A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr3:73433433C>A uc003dpl.1 - 10 2380 c.2284G>T c.(2284-2286)GAG>TAG p.E762* PDZRN3_uc011bgh.1_Nonsense_Mutation_p.E419*|PDZRN3_uc010hoe.1_Nonsense_Mutation_p.E460*|PDZRN3_uc011bgf.1_Nonsense_Mutation_p.E479*|PDZRN3_uc011bgg.1_Nonsense_Mutation_p.E482* NM_015009 NP_055824 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 762 ubiquitin-protein ligase activity|zinc ion binding pancreas(2)|ovary(2)|skin(2)|large_intestine(1) 7 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) CGGCAGCTCTCGCCTGTGTTG 0.632 13 39 --- --- --- --- PASS VGLL3 389136 broad.mit.edu 37 3 87027889 87027889 + Missense_Mutation SNP C G G TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr3:87027889C>G uc003dqn.2 - 2 554 c.190G>C c.(190-192)GAG>CAG p.E64Q NM_016206 NP_057290 A8MV65 VGLL3_HUMAN colon carcinoma related protein 64 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) tcctcctcctcTTGTTTGCTG 0.378 29 67 --- --- --- --- PASS KIAA1407 57577 broad.mit.edu 37 3 113737550 113737550 + Missense_Mutation SNP C G G TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr3:113737550C>G uc003eax.2 - 8 1285 c.1138G>C c.(1138-1140)GAA>CAA p.E380Q KIAA1407_uc011bin.1_RNA|KIAA1407_uc011bio.1_Missense_Mutation_p.E358Q|KIAA1407_uc011bip.1_Missense_Mutation_p.E367Q NM_020817 NP_065868 Q8NCU4 K1407_HUMAN hypothetical protein LOC57577 380 Potential. ovary(2) 2 AGATCATTTTCCAAGGCTTGA 0.433 130 320 --- --- --- --- PASS HCLS1 3059 broad.mit.edu 37 3 121356041 121356041 + Missense_Mutation SNP G C C TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr3:121356041G>C uc003eeh.3 - 7 642 c.517C>G c.(517-519)CTG>GTG p.L173V HCLS1_uc011bjj.1_Intron|HCLS1_uc011bjk.1_RNA NM_005335 NP_005326 P14317 HCLS1_HUMAN hematopoietic cell-specific Lyn substrate 1 173 Cortactin 3. erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity 0 GBM - Glioblastoma multiforme(114;0.0912) TCATATCCCAGAGCTGCTTTG 0.547 60 161 --- --- --- --- PASS P2RY1 5028 broad.mit.edu 37 3 152553885 152553885 + Missense_Mutation SNP C T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr3:152553885C>T uc003ezq.2 + 1 1150 c.314C>T c.(313-315)CCA>CTA p.P105L NM_002563 NP_002554 P47900 P2RY1_HUMAN purinergic receptor P2Y1 105 Helical; Name=2; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled lung(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11) CTGACTCTGCCAGCCCTGATC 0.498 60 120 --- --- --- --- PASS PLCH1 23007 broad.mit.edu 37 3 155200013 155200013 + Missense_Mutation SNP C T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr3:155200013C>T uc011bok.1 - 23 4103 c.3826G>A c.(3826-3828)GAA>AAA p.E1276K PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Missense_Mutation_p.E1238K NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a 1276 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity skin(3)|ovary(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) CAGGTAGTTTCATAAACTGTG 0.478 100 238 --- --- --- --- PASS KLHL6 89857 broad.mit.edu 37 3 183226065 183226065 + Missense_Mutation SNP C T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr3:183226065C>T uc003flr.2 - 3 749 c.691G>A c.(691-693)GAG>AAG p.E231K KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_Missense_Mutation_p.E229K NM_130446 NP_569713 Q8WZ60 KLHL6_HUMAN kelch-like 6 231 BACK. haematopoietic_and_lymphoid_tissue(2)|ovary(1) 3 all_cancers(143;9.2e-12)|Ovarian(172;0.0172) all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22) TGagcctcctcggtcacgtaa 0.274 30 937 --- --- --- --- PASS MASP1 5648 broad.mit.edu 37 3 186943271 186943271 + Missense_Mutation SNP C T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr3:186943271C>T uc003frh.1 - 13 1914 c.1582G>A c.(1582-1584)GAA>AAA p.E528K NM_001879 NP_001870 P48740 MASP1_HUMAN mannan-binding lectin serine protease 1 isoform 528 Peptidase S1. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity ovary(2)|breast(1)|liver(1) 4 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) TGTTCATTTTCATCTGACCGG 0.542 62 700 --- --- --- --- PASS LRRC33 375387 broad.mit.edu 37 3 196386691 196386691 + Silent SNP C A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr3:196386691C>A uc003fwv.2 + 3 281 c.177C>A c.(175-177)GCC>GCA p.A59A NM_198565 NP_940967 Q86YC3 LRC33_HUMAN leucine rich repeat containing 33 precursor 59 Extracellular (Potential).|LRR 1. integral to membrane ovary(2)|central_nervous_system(1) 3 all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00326) CGCCCCACGCCCGGATGCTCA 0.672 26 175 --- --- --- --- PASS IQCG 84223 broad.mit.edu 37 3 197640812 197640812 + Missense_Mutation SNP C G G TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr3:197640812C>G uc003fyo.2 - 7 974 c.828G>C c.(826-828)CAG>CAC p.Q276H IQCG_uc003fyn.2_Missense_Mutation_p.Q178H|IQCG_uc003fyp.2_Missense_Mutation_p.Q276H|IQCG_uc003fyq.3_Missense_Mutation_p.Q276H|IQCG_uc003fym.2_5'Flank NM_001134435 NP_001127907 Q9H095 IQCG_HUMAN IQ motif containing G 276 0 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.149) TCTGGGCAATCTGCAGCTCGG 0.458 81 652 --- --- --- --- PASS CEP135 9662 broad.mit.edu 37 4 56830468 56830468 + Missense_Mutation SNP G T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr4:56830468G>T uc003hbi.2 + 7 962 c.728G>T c.(727-729)CGA>CTA p.R243L CEP135_uc003hbj.2_5'Flank|CEP135_uc010igz.1_Missense_Mutation_p.R73L NM_025009 NP_079285 Q66GS9 CP135_HUMAN centrosome protein 4 243 Potential. centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle centriole|cytosol protein C-terminus binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 Glioma(25;0.08)|all_neural(26;0.101) GAGATAGAACGACTGTCAGTT 0.363 28 78 --- --- --- --- PASS UTP3 57050 broad.mit.edu 37 4 71554761 71554761 + Missense_Mutation SNP G A A rs139549167 TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr4:71554761G>A uc003hfo.2 + 1 566 c.367G>A c.(367-369)GTG>ATG p.V123M NM_020368 NP_065101 Q9NQZ2 SAS10_HUMAN UTP3, small subunit processome component 123 Glu-rich. brain development|chromatin modification|gene silencing nucleolus 0 Lung(101;0.235) TGAGGCCTCTGTGGATCCCAG 0.368 32 77 --- --- --- --- PASS NAA11 84779 broad.mit.edu 37 4 80247029 80247029 + Missense_Mutation SNP C G G TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr4:80247029C>G uc003hlt.3 - 1 143 c.3G>C c.(1-3)ATG>ATC p.M1I NM_032693 NP_116082 Q9BSU3 NAA11_HUMAN alpha-N-acetyltransferase 1B 1 Interaction with NAA15 (By similarity).|N-acetyltransferase. cytoplasm|nucleus peptide alpha-N-acetyltransferase activity|protein binding ovary(1)|central_nervous_system(1) 2 TGCGGATGTTCATAATGGCAG 0.507 12 39 --- --- --- --- PASS GK2 2712 broad.mit.edu 37 4 80328678 80328678 + Missense_Mutation SNP G A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr4:80328678G>A uc003hlu.2 - 1 695 c.677C>T c.(676-678)CCA>CTA p.P226L NM_033214 NP_149991 Q14410 GLPK2_HUMAN glycerol kinase 2 226 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity ovary(2)|skin(2) 4 AAGGTCCATTGGAATTTCAAA 0.413 64 142 --- --- --- --- PASS ADAD1 132612 broad.mit.edu 37 4 123350789 123350789 + Silent SNP T A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr4:123350789T>A uc003ieo.2 + 13 1858 c.1626T>A c.(1624-1626)TCT>TCA p.S542S ADAD1_uc003iep.2_Silent_p.S531S|ADAD1_uc003ieq.2_Silent_p.S524S NM_139243 NP_640336 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 542 A to I editase. multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding 0 AGTGTATGTCTGCCTCCTATC 0.348 45 96 --- --- --- --- PASS SLC25A31 83447 broad.mit.edu 37 4 128689967 128689967 + Missense_Mutation SNP G C C TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr4:128689967G>C uc003ifl.2 + 5 840 c.694G>C c.(694-696)GTG>CTG p.V232L NM_031291 NP_112581 Q9H0C2 ADT4_HUMAN solute carrier family 25 (mitochondrial carrier; 232 Helical; Name=5; (Potential).|Solcar 3. transmembrane transport cilium|flagellum|integral to membrane|mitochondrial inner membrane binding|transporter activity 0 TGCTCAAGTTGTGACTACATG 0.343 23 41 --- --- --- --- PASS TLR3 7098 broad.mit.edu 37 4 187004154 187004154 + Silent SNP G T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr4:187004154G>T uc003iyq.2 + 4 1415 c.1314G>T c.(1312-1314)CTG>CTT p.L438L TLR3_uc011ckz.1_Silent_p.L161L|TLR3_uc003iyr.2_Silent_p.L161L NM_003265 NP_003256 O15455 TLR3_HUMAN toll-like receptor 3 precursor 438 LRR 16.|Lumenal (Potential). activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane double-stranded RNA binding|transmembrane receptor activity ovary(2)|prostate(1)|lung(1)|breast(1) 5 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16) TACTTGACCTGGGCCTTAATG 0.413 33 64 --- --- --- --- PASS EXOC3 11336 broad.mit.edu 37 5 454073 454073 + Missense_Mutation SNP C A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr5:454073C>A uc003jba.2 + 4 1081 c.953C>A c.(952-954)GCC>GAC p.A318D NM_007277 NP_009208 O60645 EXOC3_HUMAN Sec6 protein 329 exocytosis|protein transport 0 Ovarian(839;0.0563) Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) TACCACCAAGCCCTGAGCACG 0.512 5 78 --- --- --- --- PASS CTNND2 1501 broad.mit.edu 37 5 11732354 11732354 + Missense_Mutation SNP G A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr5:11732354G>A uc003jfa.1 - 2 213 c.68C>T c.(67-69)TCA>TTA p.S23L CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 23 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 CTCTGAGGCTGATGAAGGCTG 0.507 32 174 --- --- --- --- PASS NUP155 9631 broad.mit.edu 37 5 37299569 37299569 + Nonsense_Mutation SNP C T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr5:37299569C>T uc003jku.1 - 31 3781 c.3663G>A c.(3661-3663)TGG>TGA p.W1221* NUP155_uc003jkt.1_Nonsense_Mutation_p.W1162*|NUP155_uc010iuz.1_Nonsense_Mutation_p.W1157* NM_153485 NP_705618 O75694 NU155_HUMAN nucleoporin 155kDa isoform 1 1221 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity ovary(1) 1 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TGATATCTTGCCAAAGTGTCT 0.383 88 137 --- --- --- --- PASS TTC33 23548 broad.mit.edu 37 5 40716430 40716430 + Silent SNP T C C TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr5:40716430T>C uc003jma.2 - 5 754 c.606A>G c.(604-606)CCA>CCG p.P202P TTC33_uc011cpm.1_Silent_p.P94P|TTC33_uc010ivg.2_3'UTR NM_012382 NP_036514 Q6PID6 TTC33_HUMAN tetratricopeptide repeat domain 33 202 binding ovary(1) 1 AGTCATAGTCTGGAATTGACT 0.413 54 154 --- --- --- --- PASS MRPS30 10884 broad.mit.edu 37 5 44815150 44815150 + Missense_Mutation SNP G A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr5:44815150G>A uc003joh.2 + 5 1204 c.1166G>A c.(1165-1167)CGT>CAT p.R389H NM_016640 NP_057724 Q9NP92 RT30_HUMAN mitochondrial ribosomal protein S30 389 apoptosis|translation mitochondrion|ribosome structural constituent of ribosome 0 Lung NSC(6;8.08e-07) AATAACCCTCGTAAAAATATA 0.363 26 100 --- --- --- --- PASS DIAPH1 1729 broad.mit.edu 37 5 140953560 140953560 + Silent SNP A G G TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr5:140953560A>G uc003llb.3 - 16 1998 c.1857T>C c.(1855-1857)CCT>CCC p.P619P DIAPH1_uc003llc.3_Silent_p.P610P|DIAPH1_uc010jgc.1_Silent_p.P58P NM_005219 NP_005210 O60610 DIAP1_HUMAN diaphanous 1 isoform 1 619 FH1. regulation of microtubule-based process|sensory perception of sound cytoplasm|cytoskeleton|ruffle membrane actin binding|receptor binding|Rho GTPase binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGGCAAaggaggtggaggag 0.438 2 2 --- --- --- --- PASS PBX2 5089 broad.mit.edu 37 6 32154671 32154671 + Silent SNP G A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr6:32154671G>A uc003oav.1 - 7 1303 c.1032C>T c.(1030-1032)GGC>GGT p.G344G AGER_uc003oar.2_5'Flank|AGER_uc011dpm.1_5'Flank|AGER_uc011dpn.1_5'Flank|AGER_uc003oal.1_5'Flank|AGER_uc010jtv.1_5'Flank|AGER_uc011dpo.1_5'Flank|AGER_uc003oam.1_5'Flank|AGER_uc003oan.1_5'Flank|AGER_uc003oap.1_5'Flank|AGER_uc003oat.1_5'Flank|AGER_uc003oao.1_5'Flank|AGER_uc003oaq.1_5'Flank|AGER_uc010jtw.1_5'Flank|AGER_uc003oas.1_5'Flank|AGER_uc003oau.1_5'Flank|AGER_uc011dpp.1_5'Flank|AGER_uc011dpq.1_5'Flank|AGER_uc011dpr.1_5'Flank|AGER_uc011dps.1_5'Flank NM_002586 NP_002577 P40425 PBX2_HUMAN pre-B-cell leukemia homeobox 2 344 transcription factor binding ovary(1) 1 TGAAAGAGCCGCCAGAGCCTT 0.527 37 35 --- --- --- --- PASS ENPP5 59084 broad.mit.edu 37 6 46133223 46133223 + Missense_Mutation SNP C T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr6:46133223C>T uc003oxz.1 - 3 1115 c.907G>A c.(907-909)GAA>AAA p.E303K ENPP5_uc003oya.1_Missense_Mutation_p.E303K|ENPP5_uc011dvz.1_Missense_Mutation_p.E209K|ENPP5_uc010jzc.1_Missense_Mutation_p.E303K NM_021572 NP_067547 Q9UJA9 ENPP5_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 303 extracellular region|integral to membrane hydrolase activity 0 TGCCACCTTTCTGGAACGTCT 0.398 68 107 --- --- --- --- PASS IL17A 3605 broad.mit.edu 37 6 52052553 52052553 + Silent SNP C G G TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr6:52052553C>G uc003pak.1 + 2 225 c.180C>G c.(178-180)CCC>CCG p.P60P NM_002190 NP_002181 Q16552 IL17_HUMAN interleukin 17A precursor 60 apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation extracellular space cytokine activity 0 Lung NSC(77;0.116) ATACCAATCCCAAAAGGTCCT 0.453 76 164 --- --- --- --- PASS POU3F2 5454 broad.mit.edu 37 6 99282855 99282855 + Missense_Mutation SNP G C C TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr6:99282855G>C uc003ppe.2 + 1 276 c.106G>C c.(106-108)GAA>CAA p.E36Q NM_005604 NP_005595 P20265 PO3F2_HUMAN POU domain, class 3, transcription factor 2 36 positive regulation of cell proliferation identical protein binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197) BRCA - Breast invasive adenocarcinoma(108;0.0355) GGGCTACCGCGAAGCGCAGAG 0.682 11 36 --- --- --- --- PASS RFPL4B 442247 broad.mit.edu 37 6 112671180 112671180 + Silent SNP C G G TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr6:112671180C>G uc003pvx.1 + 3 582 c.270C>G c.(268-270)CTC>CTG p.L90L NM_001013734 NP_001013756 Q6ZWI9 RFPLB_HUMAN ret finger protein-like 4B 90 B30.2/SPRY. zinc ion binding 0 all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209) all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244) GGGAGGAGCTCCGGCATTTTC 0.527 27 66 --- --- --- --- PASS LAMA2 3908 broad.mit.edu 37 6 129419420 129419420 + Nonsense_Mutation SNP C T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr6:129419420C>T uc003qbn.2 + 4 604 c.499C>T c.(499-501)CAG>TAG p.Q167* LAMA2_uc003qbo.2_Nonsense_Mutation_p.Q167* NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 167 Laminin N-terminal. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) CAAGCCCTGGCAGTATCATGC 0.502 40 119 --- --- --- --- PASS SGK1 6446 broad.mit.edu 37 6 134495894 134495894 + Missense_Mutation SNP T A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr6:134495894T>A uc003qen.3 - 1 141 c.52A>T c.(52-54)AGG>TGG p.R18W SGK1_uc003qeo.3_Intron|SGK1_uc011ect.1_5'UTR|SGK1_uc011ecu.1_Missense_Mutation_p.R18W|SGK1_uc011ecv.1_Intron|SGK1_uc011ecw.1_Intron NM_005627 NP_005618 O00141 SGK1_HUMAN serum/glucocorticoid regulated kinase 1 isoform 18 Necessary for localization to the cytoplasm. apoptosis|response to stress|sodium ion transport endoplasmic reticulum|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity skin(3)|stomach(1)|lung(1)|central_nervous_system(1) 6 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847) ACCATGCCCCTCATCCTGGAG 0.542 76 232 --- --- --- --- PASS HBS1L 10767 broad.mit.edu 37 6 135287503 135287503 + Silent SNP G A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr6:135287503G>A uc003qez.2 - 17 2214 c.2007C>T c.(2005-2007)TAC>TAT p.Y669Y HBS1L_uc003qey.2_Silent_p.Y505Y|HBS1L_uc011ecy.1_Silent_p.Y393Y|HBS1L_uc011ecz.1_Silent_p.Y505Y|HBS1L_uc011eda.1_Silent_p.Y627Y NM_006620 NP_006611 Q9Y450 HBS1L_HUMAN Hsp70 subfamily B suppressor 1-like protein 669 signal transduction GTP binding|GTPase activity|translation elongation factor activity skin(2) 2 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702) TAGAACCACCGTAACGTAGCA 0.378 45 100 --- --- --- --- PASS BCLAF1 9774 broad.mit.edu 37 6 136597388 136597388 + Silent SNP A T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr6:136597388A>T uc003qgx.1 - 5 1528 c.1275T>A c.(1273-1275)ACT>ACA p.T425T BCLAF1_uc003qgw.1_Intron|BCLAF1_uc003qgy.1_Silent_p.T423T|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Silent_p.T423T NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 425 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) GGTGAGATGCAGTAGCAAAAC 0.403 70 379 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152472735 152472735 + Missense_Mutation SNP C T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr6:152472735C>T uc010kiw.2 - 135 25005 c.24403G>A c.(24403-24405)GAA>AAA p.E8135K SYNE1_uc010kiv.2_Missense_Mutation_p.E2659K|SYNE1_uc003qos.3_Missense_Mutation_p.E2659K|SYNE1_uc003qot.3_Missense_Mutation_p.E8064K|SYNE1_uc003qou.3_Missense_Mutation_p.E8135K|SYNE1_uc003qop.3_Missense_Mutation_p.E297K|SYNE1_uc011eez.1_Missense_Mutation_p.E337K|SYNE1_uc003qoq.3_Missense_Mutation_p.E337K|SYNE1_uc003qor.3_Missense_Mutation_p.E1035K NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 8135 Spectrin 30.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GAAAAATGTTCAATATTAGTG 0.413 HNSCC(10;0.0054) 10 45 --- --- --- --- PASS TFB1M 51106 broad.mit.edu 37 6 155635542 155635542 + Silent SNP G C C TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr6:155635542G>C uc003qqj.3 - 1 85 c.21C>G c.(19-21)CTC>CTG p.L7L TFB1M_uc003qqk.2_RNA NM_016020 NP_057104 Q8WVM0 TFB1M_HUMAN transcription factor B1, mitochondrial 7 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial nucleoid DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity skin(1) 1 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131) GGCAAGTGCTGAGTTTTCCGG 0.552 27 85 --- --- --- --- PASS MICALL2 79778 broad.mit.edu 37 7 1487280 1487280 + Silent SNP T C C TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr7:1487280T>C uc003skj.3 - 4 603 c.456A>G c.(454-456)CTA>CTG p.L152L NM_182924 NP_891554 Q8IY33 MILK2_HUMAN MICAL-like 2 isoform 1 152 cytoplasm|cytoskeleton zinc ion binding central_nervous_system(1) 1 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15) GGGCTGGAGATAGTGGAGGCT 0.677 9 9 --- --- --- --- PASS USP42 84132 broad.mit.edu 37 7 6189578 6189578 + Missense_Mutation SNP G A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr7:6189578G>A uc011jwo.1 + 13 1874 c.1751G>A c.(1750-1752)CGC>CAC p.R584H USP42_uc010kth.1_Missense_Mutation_p.R517H|USP42_uc011jwp.1_Missense_Mutation_p.R584H|USP42_uc011jwq.1_Missense_Mutation_p.R391H|USP42_uc011jwr.1_Missense_Mutation_p.R429H NM_032172 NP_115548 Q9H9J4 UBP42_HUMAN ubiquitin specific peptidase 42 584 cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity skin(2)|ovary(1)|pancreas(1)|breast(1) 5 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14) CCGATCCCCCGCAGTGAATCC 0.527 24 53 --- --- --- --- PASS CHN2 1124 broad.mit.edu 37 7 29552256 29552256 + Missense_Mutation SNP C A A rs34971642 byFrequency TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr7:29552256C>A uc003szz.2 + 13 1749 c.1312C>A c.(1312-1314)CCC>ACC p.P438T CHN2_uc011jzs.1_Missense_Mutation_p.P513T|CHN2_uc010kva.2_3'UTR|CHN2_uc010kvb.2_RNA|CHN2_uc010kvc.2_Missense_Mutation_p.P403T|CHN2_uc011jzt.1_Missense_Mutation_p.P451T|CHN2_uc010kvd.2_Missense_Mutation_p.P294T|CHN2_uc011jzu.1_Missense_Mutation_p.P423T|CHN2_uc010kvg.2_Missense_Mutation_p.P256T|CHN2_uc010kvh.2_Missense_Mutation_p.P198T|CHN2_uc010kvi.2_Missense_Mutation_p.P230T|CHN2_uc010kve.2_3'UTR|CHN2_uc003taa.2_Missense_Mutation_p.P302T|CHN2_uc010kvf.2_Missense_Mutation_p.P244T|CHN2_uc010kvj.2_Missense_Mutation_p.P211T|CHN2_uc010kvk.2_Missense_Mutation_p.P113T|CHN2_uc010kvl.2_RNA|CHN2_uc010kvm.2_Missense_Mutation_p.P257T|CHN2_uc011jzv.1_Missense_Mutation_p.P231T NM_004067 NP_004058 P52757 CHIO_HUMAN beta chimerin isoform 2 438 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|membrane GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity ovary(2) 2 TCTGATGAGGCCCCCTGAGGA 0.423 34 110 --- --- --- --- PASS PDE1C 5137 broad.mit.edu 37 7 32109912 32109912 + Missense_Mutation SNP G A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr7:32109912G>A uc003tcm.1 - 1 563 c.94C>T c.(94-96)CGC>TGC p.R32C PDE1C_uc003tcn.1_Missense_Mutation_p.R32C|PDE1C_uc003tco.1_Intron|PDE1C_uc003tcr.2_Missense_Mutation_p.R32C|PDE1C_uc003tcs.2_Missense_Mutation_p.R32C NM_005020 NP_005011 Q14123 PDE1C_HUMAN phosphodiesterase 1C 32 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) TACAGCCCGCGGAGCCGAAGC 0.507 6 196 --- --- --- --- PASS BBS9 27241 broad.mit.edu 37 7 33195308 33195308 + Missense_Mutation SNP G T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr7:33195308G>T uc003tdn.1 + 4 835 c.322G>T c.(322-324)GTC>TTC p.V108F BBS9_uc003tdo.1_Missense_Mutation_p.V108F|BBS9_uc003tdp.1_Missense_Mutation_p.V108F|BBS9_uc003tdq.1_Missense_Mutation_p.V108F|BBS9_uc010kwn.1_RNA|BBS9_uc011kan.1_Missense_Mutation_p.V108F|BBS9_uc011kao.1_5'Flank NM_198428 NP_940820 Q3SYG4 PTHB1_HUMAN parathyroid hormone-responsive B1 isoform 2 108 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 GBM - Glioblastoma multiforme(11;0.0894) TGTCTACTCTGTCTCAGGTAA 0.318 Bardet-Biedl_syndrome 8 28 --- --- --- --- PASS ASL 435 broad.mit.edu 37 7 65557572 65557572 + Missense_Mutation SNP C A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr7:65557572C>A uc003tuo.2 + 16 1283 c.1172C>A c.(1171-1173)TCC>TAC p.S391Y ASL_uc003tup.2_Missense_Mutation_p.S391Y|ASL_uc003tur.2_Missense_Mutation_p.S365Y|ASL_uc003tuq.2_Missense_Mutation_p.S371Y NM_000048 NP_000039 P04424 ARLY_HUMAN argininosuccinate lyase isoform 1 391 arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle cytosol argininosuccinate lyase activity breast(2) 2 L-Arginine(DB00125) CACGAGGCCTCCGGGAAAGCT 0.637 81 192 --- --- --- --- PASS MAGI2 9863 broad.mit.edu 37 7 77885613 77885613 + Missense_Mutation SNP G A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr7:77885613G>A uc003ugx.2 - 10 1948 c.1694C>T c.(1693-1695)CCG>CTG p.P565L MAGI2_uc003ugy.2_Missense_Mutation_p.P565L|MAGI2_uc010ldx.1_Missense_Mutation_p.P174L|MAGI2_uc010ldy.1_Missense_Mutation_p.P174L|MAGI2_uc011kgr.1_Missense_Mutation_p.P397L|MAGI2_uc011kgs.1_Missense_Mutation_p.P402L NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ 565 cell junction|synapse|synaptosome phosphatase binding ovary(5)|lung(4)|breast(1)|skin(1) 11 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) AGAATGAGGCGGCCGATCTGT 0.507 36 70 --- --- --- --- PASS CD36 948 broad.mit.edu 37 7 80290394 80290394 + Silent SNP C A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr7:80290394C>A uc003uhc.2 + 8 981 c.297C>A c.(295-297)GCC>GCA p.A99A CD36_uc003uhd.3_Silent_p.A99A|CD36_uc011kgv.1_Silent_p.A23A|CD36_uc003uhe.3_Silent_p.A99A|CD36_uc003uhf.3_Silent_p.A99A|CD36_uc003uhg.3_Silent_p.A99A|CD36_uc003uhh.3_Silent_p.A99A NM_001127444 NP_001120916 P16671 CD36_HUMAN CD36 antigen 99 Required for interaction with thrombospondins, THBS1 and THBS2.|Extracellular (Potential). cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation integral to plasma membrane|membrane fraction|platelet alpha granule membrane lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding ovary(1) 1 GTTTTCTAGCCAAGGAAAATG 0.368 63 97 --- --- --- --- PASS PLXNA4 91584 broad.mit.edu 37 7 131853302 131853302 + Missense_Mutation SNP C A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr7:131853302C>A uc003vra.3 - 22 4276 c.4047G>T c.(4045-4047)GAG>GAT p.E1349D NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 1349 Cytoplasmic (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 TCAGGCCTTTCTCCACACGCT 0.612 37 45 --- --- --- --- PASS CNOT4 4850 broad.mit.edu 37 7 135080421 135080421 + Missense_Mutation SNP G A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr7:135080421G>A uc003vsv.1 - 9 1401 c.1094C>T c.(1093-1095)CCT>CTT p.P365L CNOT4_uc003vss.2_Missense_Mutation_p.P362L|CNOT4_uc011kpz.1_Missense_Mutation_p.P362L|CNOT4_uc003vst.2_Missense_Mutation_p.P365L|CNOT4_uc003vsu.1_Missense_Mutation_p.P362L|CNOT4_uc011kpy.1_Missense_Mutation_p.P365L NM_001008225 NP_001008226 O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 365 nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding 0 TGGTGCTGTAGGCCAGTCACT 0.458 136 155 --- --- --- --- PASS KIAA1549 57670 broad.mit.edu 37 7 138593849 138593849 + Missense_Mutation SNP G A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr7:138593849G>A uc011kql.1 - 5 3213 c.3164C>T c.(3163-3165)CCG>CTG p.P1055L KIAA1549_uc003vuk.3_Missense_Mutation_p.P1005L|KIAA1549_uc011kqj.1_Missense_Mutation_p.P1055L NM_020910 NP_065961 Q9HCM3 K1549_HUMAN hypothetical protein LOC57670 isoform 1 1055 integral to membrane KIAA1549/BRAF(229) central_nervous_system(229)|pancreas(1) 230 ATCCACACTCGGAGGCACAAA 0.433 O BRAF pilocytic astrocytoma 20 11 --- --- --- --- PASS CNTNAP2 26047 broad.mit.edu 37 7 146829535 146829535 + Missense_Mutation SNP G A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr7:146829535G>A uc003weu.1 + 8 1798 c.1282G>A c.(1282-1284)GAA>AAA p.E428K NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 428 Extracellular (Potential).|Laminin G-like 2. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TGACCTCACTGAAAGCAAAGT 0.438 HNSCC(39;0.1) 33 141 --- --- --- --- PASS CUL1 8454 broad.mit.edu 37 7 148463729 148463729 + Missense_Mutation SNP G A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr7:148463729G>A uc010lpg.2 + 8 1392 c.866G>A c.(865-867)AGG>AAG p.R289K CUL1_uc003wey.2_Missense_Mutation_p.R289K|CUL1_uc003wez.2_Missense_Mutation_p.R179K NM_003592 NP_003583 Q13616 CUL1_HUMAN cullin 1 289 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|nucleoplasm|SCF ubiquitin ligase complex ubiquitin protein ligase binding lung(1) 1 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) GAATTAGCAAGGAAATGTGAA 0.388 69 72 --- --- --- --- PASS AGAP3 116988 broad.mit.edu 37 7 150813909 150813909 + Silent SNP C T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr7:150813909C>T uc003wjg.1 + 2 364 c.361C>T c.(361-363)CTG>TTG p.L121L AGAP3_uc003wje.1_5'UTR|AGAP3_uc003wjf.1_Silent_p.L121L|AGAP3_uc010lpy.1_Silent_p.L121L|AGAP3_uc003wjh.1_Silent_p.L301L NM_031946 NP_114152 Q96P47 AGAP3_HUMAN centaurin, gamma 3 isoform a 85 Small GTPase-like. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm|membrane ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding central_nervous_system(2)|ovary(1) 3 GGAGTGGACGCTGAGCCGCTC 0.687 99 137 --- --- --- --- PASS UBE3C 9690 broad.mit.edu 37 7 157013451 157013451 + Silent SNP G T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr7:157013451G>T uc010lqs.2 + 15 2295 c.1983G>T c.(1981-1983)CCG>CCT p.P661P UBE3C_uc003wni.3_5'UTR NM_014671 NP_055486 Q15386 UBE3C_HUMAN ubiquitin protein ligase E3C 661 protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity ovary(2)|lung(2)|large_intestine(1) 5 all_hematologic(28;0.0185)|all_epithelial(9;0.0664) OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.19) GGATAGGCCCGCTGCAGTCCA 0.433 63 75 --- --- --- --- PASS DLGAP2 9228 broad.mit.edu 37 8 1497519 1497519 + Missense_Mutation SNP C A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr8:1497519C>A uc003wpl.2 + 2 757 c.660C>A c.(658-660)GAC>GAA p.D220E DLGAP2_uc003wpm.2_Missense_Mutation_p.D220E NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN discs large-associated protein 2 299 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding 0 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) GGAGCTCGGACGACAACCTGG 0.692 73 54 --- --- --- --- PASS CSMD1 64478 broad.mit.edu 37 8 2910062 2910062 + Missense_Mutation SNP C G G TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr8:2910062C>G uc011kwk.1 - 50 7975 c.7585G>C c.(7585-7587)GAA>CAA p.E2529Q CSMD1_uc011kwj.1_Missense_Mutation_p.E1858Q|CSMD1_uc010lrg.2_Missense_Mutation_p.E597Q NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2529 Extracellular (Potential).|Sushi 15. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TGGCTGGATTCAAGCTTGAAG 0.512 6 14 --- --- --- --- PASS POTEA 340441 broad.mit.edu 37 8 43147713 43147713 + Missense_Mutation SNP G A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr8:43147713G>A uc003xpz.1 + 1 129 c.86G>A c.(85-87)TGC>TAC p.C29Y POTEA_uc003xqa.1_Missense_Mutation_p.C29Y NM_001005365 NP_001005365 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A isoform 2 29 Cys-rich. ovary(1) 1 AAGTGGTGCTGCTGCTGCTTC 0.587 61 48 --- --- --- --- PASS TRPA1 8989 broad.mit.edu 37 8 72936124 72936124 + Missense_Mutation SNP C G G TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr8:72936124C>G uc003xza.2 - 26 3249 c.3074G>C c.(3073-3075)TGC>TCC p.C1025S uc011lff.1_Intron|uc003xyy.2_Intron NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 1025 Cytoplasmic (Potential). integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) TTCCCCAGTGCAAAATAAAAA 0.294 8 31 --- --- --- --- PASS TRPA1 8989 broad.mit.edu 37 8 72987580 72987580 + Missense_Mutation SNP T C C TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr8:72987580T>C uc003xza.2 - 1 240 c.65A>G c.(64-66)TAT>TGT p.Y22C NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 22 Cytoplasmic (Potential). integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) CACATCCTCATAGACAACGCC 0.642 59 251 --- --- --- --- PASS STAU2 27067 broad.mit.edu 37 8 74585361 74585361 + Missense_Mutation SNP G A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr8:74585361G>A uc003xzm.2 - 6 627 c.391C>T c.(391-393)CGG>TGG p.R131W STAU2_uc011lfg.1_Intron|STAU2_uc003xzn.2_Missense_Mutation_p.R99W|STAU2_uc011lfh.1_Missense_Mutation_p.R27W|STAU2_uc003xzo.2_Missense_Mutation_p.R131W|STAU2_uc003xzp.2_Missense_Mutation_p.R99W|STAU2_uc011lfi.1_Missense_Mutation_p.R93W|STAU2_uc003xzq.2_Intron|STAU2_uc010lzk.2_Missense_Mutation_p.R99W|STAU2_uc010lzl.1_Intron|STAU2_uc003xzs.2_Missense_Mutation_p.R99W|STAU2_uc003xzr.2_Missense_Mutation_p.R93W NM_014393 NP_055208 Q9NUL3 STAU2_HUMAN staufen homolog 2 isoform e 131 DRBM 2. transport endoplasmic reticulum|microtubule|nucleolus double-stranded RNA binding 0 Breast(64;0.0138) Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972) TACATGCCCCGAAAGTTGTAA 0.363 18 103 --- --- --- --- PASS OSGIN2 734 broad.mit.edu 37 8 90936800 90936800 + Missense_Mutation SNP G A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr8:90936800G>A uc003yeg.2 + 6 904 c.558G>A c.(556-558)ATG>ATA p.M186I OSGIN2_uc003yeh.2_Missense_Mutation_p.M230I NM_004337 NP_004328 Q9Y236 OSGI2_HUMAN oxidative stress induced growth inhibitor family 186 germ cell development|meiosis 0 BRCA - Breast invasive adenocarcinoma(11;0.0344) TAAAAGTCATGGGTCTTCAGA 0.343 93 140 --- --- --- --- PASS PTDSS1 9791 broad.mit.edu 37 8 97321829 97321829 + Missense_Mutation SNP G C C TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr8:97321829G>C uc003yht.1 + 9 1154 c.1052G>C c.(1051-1053)GGA>GCA p.G351A PTDSS1_uc003yhu.1_Missense_Mutation_p.G205A NM_014754 NP_055569 P48651 PTSS1_HUMAN phosphatidylserine synthase 1 351 phosphatidylserine biosynthetic process integral to membrane transferase activity ovary(1) 1 Breast(36;6.18e-05) Phosphatidylserine(DB00144) AAGCGCGTAGGAACACAATGC 0.428 18 95 --- --- --- --- PASS RIMS2 9699 broad.mit.edu 37 8 105257246 105257246 + Missense_Mutation SNP C G G TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr8:105257246C>G uc003yls.2 + 24 3732 c.3491C>G c.(3490-3492)TCT>TGT p.S1164C RIMS2_uc003ylp.2_Missense_Mutation_p.S1146C|RIMS2_uc003ylw.2_Missense_Mutation_p.S1153C|RIMS2_uc003ylq.2_Missense_Mutation_p.S960C|RIMS2_uc003ylr.2_Missense_Mutation_p.S985C NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1208 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) AGCCGAGAGTCTACAGATGGT 0.507 HNSCC(12;0.0054) 196 150 --- --- --- --- PASS PKHD1L1 93035 broad.mit.edu 37 8 110476933 110476933 + Missense_Mutation SNP G T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr8:110476933G>T uc003yne.2 + 49 7976 c.7872G>T c.(7870-7872)ATG>ATT p.M2624I NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 2624 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GGTTTGGAATGTGGATCTTTG 0.403 HNSCC(38;0.096) 251 302 --- --- --- --- PASS ZC3H3 23144 broad.mit.edu 37 8 144522215 144522215 + Silent SNP G A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr8:144522215G>A uc003yyd.2 - 11 2840 c.2811C>T c.(2809-2811)GAC>GAT p.D937D NM_015117 NP_055932 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 937 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding skin(1) 1 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) GCCTACCTGAGTCCTTGGTGA 0.716 8 10 --- --- --- --- PASS EPPK1 83481 broad.mit.edu 37 8 144943414 144943414 + Silent SNP G C C TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr8:144943414G>C uc003zaa.1 - 1 4021 c.4008C>G c.(4006-4008)CTC>CTG p.L1336L NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 1336 Plectin 23. cytoplasm|cytoskeleton protein binding|structural molecule activity pancreas(1)|skin(1) 2 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GCCACAGAGAGAGGGAGGCCC 0.687 38 167 --- --- --- --- PASS EPPK1 83481 broad.mit.edu 37 8 144944503 144944503 + Missense_Mutation SNP G C C TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr8:144944503G>C uc003zaa.1 - 1 2932 c.2919C>G c.(2917-2919)ATC>ATG p.I973M NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 973 Plectin 18. cytoplasm|cytoskeleton protein binding|structural molecule activity pancreas(1)|skin(1) 2 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GAGGGTCCATGATGGTTCCGG 0.701 7 19 --- --- --- --- PASS NFKBIL2 4796 broad.mit.edu 37 8 145663860 145663860 + Silent SNP C T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr8:145663860C>T uc011llg.1 - 13 1662 c.1647G>A c.(1645-1647)GTG>GTA p.V549V uc011llh.1_Intron NM_013432 NP_038460 Q96HA7 TONSL_HUMAN NF-kappa-B inhibitor-like protein 2 549 ANK 1. cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing cytoplasm|nuclear replication fork histone binding|transcription corepressor activity 0 all_cancers(97;4.61e-11)|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;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) CCACCTGCCTCACAAGGTCCT 0.517 38 149 --- --- --- --- PASS KANK1 23189 broad.mit.edu 37 9 712577 712577 + Missense_Mutation SNP G A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr9:712577G>A uc003zgl.1 + 7 2460 c.1811G>A c.(1810-1812)AGC>AAC p.S604N KANK1_uc003zgm.2_Missense_Mutation_p.S604N|KANK1_uc003zgn.1_Missense_Mutation_p.S604N|KANK1_uc003zgo.1_Missense_Mutation_p.S604N|KANK1_uc003zgp.1_Missense_Mutation_p.S604N|KANK1_uc003zgq.2_Missense_Mutation_p.S446N|KANK1_uc003zgr.1_Missense_Mutation_p.S446N|KANK1_uc003zgs.1_Missense_Mutation_p.S446N NM_015158 NP_055973 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 isoform a 604 negative regulation of actin filament polymerization cytoplasm ovary(2)|central_nervous_system(1)|pancreas(1) 4 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) GAAACAGGCAGCAACACAGAG 0.498 48 222 --- --- --- --- PASS AKNA 80709 broad.mit.edu 37 9 117113193 117113193 + Missense_Mutation SNP G A A rs139913868 byFrequency TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr9:117113193G>A uc004biq.3 - 14 3302 c.3167C>T c.(3166-3168)CCC>CTC p.P1056L AKNA_uc004bin.3_Missense_Mutation_p.P303L|AKNA_uc004bio.3_Missense_Mutation_p.P516L|AKNA_uc004bip.3_Missense_Mutation_p.P975L|AKNA_uc004bir.3_Missense_Mutation_p.P1056L|AKNA_uc004bis.3_Missense_Mutation_p.P1056L|AKNA_uc010mve.2_Missense_Mutation_p.P937L|AKNA_uc004bit.1_RNA NM_030767 NP_110394 Q7Z591 AKNA_HUMAN AT-hook transcription factor 1056 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(4)|central_nervous_system(2) 6 TGGTCCACAGGGTAGAGGCGC 0.587 125 81 --- --- --- --- PASS CIZ1 25792 broad.mit.edu 37 9 130931780 130931780 + Nonsense_Mutation SNP G A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr9:130931780G>A uc004btt.2 - 13 2213 c.2050C>T c.(2050-2052)CGA>TGA p.R684* CIZ1_uc004btr.2_Nonsense_Mutation_p.R656*|CIZ1_uc004bts.2_Nonsense_Mutation_p.R655*|CIZ1_uc011maq.1_Nonsense_Mutation_p.R623*|CIZ1_uc004btu.2_Nonsense_Mutation_p.R604*|CIZ1_uc011mar.1_Nonsense_Mutation_p.R583*|CIZ1_uc011mas.1_Nonsense_Mutation_p.R740*|CIZ1_uc004btw.2_Nonsense_Mutation_p.R628*|CIZ1_uc004btv.2_Nonsense_Mutation_p.R684* NM_001131016 NP_001124488 Q9ULV3 CIZ1_HUMAN CDKN1A interacting zinc finger protein 1 isoform 684 nucleus nucleic acid binding|protein binding|zinc ion binding ovary(2)|central_nervous_system(2) 4 CAGAAGGGTCGCAAGGATTGT 0.567 60 31 --- --- --- --- PASS MED22 6837 broad.mit.edu 37 9 136208458 136208458 + Missense_Mutation SNP G A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr9:136208458G>A uc004cdc.2 - 5 734 c.500C>T c.(499-501)TCG>TTG p.S167L MED22_uc004cdd.2_3'UTR NM_133640 NP_598395 Q15528 MED22_HUMAN mediator complex subunit 22 isoform b 167 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|mediator complex|soluble fraction protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05) CAGAGGGGCCGAGAGGCCATC 0.657 16 45 --- --- --- --- PASS ANAPC2 29882 broad.mit.edu 37 9 140076197 140076197 + Silent SNP C T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr9:140076197C>T uc004clr.1 - 7 1477 c.1404G>A c.(1402-1404)CAG>CAA p.Q468Q ANAPC2_uc004clq.1_Silent_p.Q324Q NM_013366 NP_037498 Q9UJX6 ANC2_HUMAN anaphase-promoting complex subunit 2 468 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity anaphase-promoting complex|cytosol|nucleoplasm ubiquitin protein ligase binding|ubiquitin-protein ligase activity ovary(1) 1 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858) CCTCACTGTCCTGGCCTGTCT 0.647 30 16 --- --- --- --- PASS PNPLA7 375775 broad.mit.edu 37 9 140396107 140396107 + Missense_Mutation SNP C T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr9:140396107C>T uc004cnf.2 - 14 1808 c.1471G>A c.(1471-1473)GAC>AAC p.D491N C9orf167_uc011mew.1_Intron|PNPLA7_uc011mfa.1_Intron|PNPLA7_uc010ncj.1_Missense_Mutation_p.D516N NM_152286 NP_689499 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 491 cNMP 2. lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity skin(1) 1 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) CTCACCTGGTCTCCCTGCCTT 0.622 11 35 --- --- --- --- PASS ADARB2 105 broad.mit.edu 37 10 1313259 1313259 + Silent SNP G A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr10:1313259G>A uc009xhq.2 - 4 1457 c.1083C>T c.(1081-1083)TTC>TTT p.F361F NM_018702 NP_061172 Q9NS39 RED2_HUMAN adenosine deaminase, RNA-specific, B2 361 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) TGGAGTCTGCGAATTCCTGAA 0.612 14 38 --- --- --- --- PASS PHYH 5264 broad.mit.edu 37 10 13330438 13330438 + Missense_Mutation SNP G T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr10:13330438G>T uc001imf.2 - 6 688 c.600C>A c.(598-600)AGC>AGA p.S200R PHYH_uc001ime.2_Missense_Mutation_p.S100R|PHYH_uc001img.2_Missense_Mutation_p.S183R NM_006214 NP_006205 O14832 PAHX_HUMAN phytanoyl-CoA 2-hydroxylase isoform a precursor 200 fatty acid alpha-oxidation|nervous system development peroxisomal matrix electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding 0 Ovarian(717;0.0448) Antihemophilic Factor(DB00025)|Vitamin C(DB00126) CGTTGTTCCGGCTGATGTGCT 0.627 41 99 --- --- --- --- PASS ITGB1 3688 broad.mit.edu 37 10 33199223 33199223 + Missense_Mutation SNP C T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr10:33199223C>T uc001iws.3 - 14 2228 c.2092G>A c.(2092-2094)GAC>AAC p.D698N ITGB1_uc001iwp.3_Missense_Mutation_p.D698N|ITGB1_uc001iwq.3_Missense_Mutation_p.D698N|ITGB1_uc001iwr.3_Missense_Mutation_p.D698N|ITGB1_uc001iwt.3_Missense_Mutation_p.D698N|ITGB1_uc001iwu.1_Missense_Mutation_p.D698N NM_133376 NP_596867 P05556 ITB1_HUMAN integrin beta 1 isoform 1A precursor 698 Extracellular (Potential). axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma identical protein binding|protein heterodimerization activity|receptor activity upper_aerodigestive_tract(1)|ovary(1) 2 Ovarian(717;1.34e-05)|Breast(68;0.0634) AACCAACAGTCGTCAACATCC 0.433 15 31 --- --- --- --- PASS CTNNA3 29119 broad.mit.edu 37 10 67680201 67680201 + Missense_Mutation SNP T A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr10:67680201T>A uc009xpn.1 - 18 2698 c.2575A>T c.(2575-2577)ATT>TTT p.I859F CTNNA3_uc001jmw.2_Missense_Mutation_p.I859F NM_001127384 NP_001120856 Q9UI47 CTNA3_HUMAN catenin, alpha 3 859 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1) 8 TCTCTTTTAATCAAGGGTTTT 0.473 56 163 --- --- --- --- PASS CTNNA3 29119 broad.mit.edu 37 10 68040305 68040305 + Missense_Mutation SNP C T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr10:68040305C>T uc009xpn.1 - 13 1930 c.1807G>A c.(1807-1809)GAT>AAT p.D603N CTNNA3_uc001jmw.2_Missense_Mutation_p.D603N NM_001127384 NP_001120856 Q9UI47 CTNA3_HUMAN catenin, alpha 3 603 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1) 8 AATTGATTATCATCCAACACA 0.338 20 70 --- --- --- --- PASS DLG5 9231 broad.mit.edu 37 10 79588710 79588710 + Missense_Mutation SNP G T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr10:79588710G>T uc001jzk.2 - 13 2289 c.2219C>A c.(2218-2220)GCT>GAT p.A740D DLG5_uc001jzj.2_Missense_Mutation_p.A495D|DLG5_uc009xru.1_RNA|DLG5_uc001jzl.3_Missense_Mutation_p.A344D NM_004747 NP_004738 Q8TDM6 DLG5_HUMAN discs large homolog 5 740 PDZ 2. cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity ovary(5)|breast(3) 8 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) CACAGCGGCAGCATACACTCC 0.617 13 39 --- --- --- --- PASS C10orf58 84293 broad.mit.edu 37 10 82185670 82185670 + Missense_Mutation SNP G A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr10:82185670G>A uc001kcc.3 + 4 479 c.319G>A c.(319-321)GTC>ATC p.V107I C10orf58_uc001kcd.3_Missense_Mutation_p.V96I|C10orf58_uc001kce.3_Missense_Mutation_p.V107I|C10orf58_uc001kcf.3_Missense_Mutation_p.V107I NM_032333 NP_115709 Q9BRX8 CJ058_HUMAN hypothetical protein LOC84293 precursor 107 extracellular region 0 Colorectal(32;0.229) CCAGCTGGGCGTCCCCCTCTA 0.517 12 153 --- --- --- --- PASS ATRNL1 26033 broad.mit.edu 37 10 116887419 116887419 + Missense_Mutation SNP G A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr10:116887419G>A uc001lcg.2 + 4 940 c.554G>A c.(553-555)GGC>GAC p.G185D ATRNL1_uc001lce.2_RNA|ATRNL1_uc001lcf.2_Missense_Mutation_p.G185D|ATRNL1_uc009xyq.2_Missense_Mutation_p.G185D NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 185 CUB.|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) ACTACATCTGGCTATGCACTG 0.313 5 16 --- --- --- --- PASS ADAM12 8038 broad.mit.edu 37 10 127760061 127760061 + Silent SNP G A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr10:127760061G>A uc001ljk.2 - 12 1730 c.1317C>T c.(1315-1317)GAC>GAT p.D439D ADAM12_uc010qul.1_Silent_p.D390D|ADAM12_uc001ljm.2_Silent_p.D439D|ADAM12_uc001ljn.2_Silent_p.D436D|ADAM12_uc001ljl.3_Silent_p.D436D NM_003474 NP_003465 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 isoform 1 439 Extracellular (Potential).|Disintegrin. cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 9 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) GCTCCCCACAGTCACACTCCT 0.512 89 249 --- --- --- --- PASS RBMXL2 27288 broad.mit.edu 37 11 7111037 7111037 + Missense_Mutation SNP G A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr11:7111037G>A uc001mfc.2 + 1 873 c.686G>A c.(685-687)CGG>CAG p.R229Q NM_014469 NP_055284 O75526 HNRGT_HUMAN testes-specific heterogenous nuclear 229 Arg/Gly/Pro-rich. nucleus|ribonucleoprotein complex nucleotide binding|RNA binding 0 Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) CGCGAACCCCGGGGTTTTGCC 0.701 11 33 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 11 30930511 30930511 + RNA SNP T C C TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr11:30930511T>C uc001mss.1 - 7 c.1003A>G uc009yjk.1_Silent_p.E748E|uc009yjj.1_5'Flank Homo sapiens mRNA for KIAA1493 protein, partial cds. CAATGTTTTCTTCTTTAATCA 0.323 17 35 --- --- --- --- PASS OR5L2 26338 broad.mit.edu 37 11 55595392 55595392 + Missense_Mutation SNP G C C TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr11:55595392G>C uc001nhy.1 + 1 698 c.698G>C c.(697-699)AGC>ACC p.S233T NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, 233 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_epithelial(135;0.208) TCTGCAGAGAGCAGGCACAAA 0.493 HNSCC(27;0.073) 7 226 --- --- --- --- PASS OR5J2 282775 broad.mit.edu 37 11 55944170 55944170 + Missense_Mutation SNP T G G TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr11:55944170T>G uc010rjb.1 + 1 77 c.77T>G c.(76-78)GTG>GGG p.V26G NM_001005492 NP_001005492 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, 26 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|large_intestine(1)|breast(1)|pancreas(1) 4 Esophageal squamous(21;0.00693) CTAAAAGCTGTGCTTTTTGTG 0.388 91 245 --- --- --- --- PASS OR9G9 504191 broad.mit.edu 37 11 56468176 56468176 + Missense_Mutation SNP G A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr11:56468176G>A uc010rjn.1 + 1 313 c.313G>A c.(313-315)GGG>AGG p.G105R NM_001013358 NP_001013376 P0C7N8 OR9G9_HUMAN olfactory receptor, family 9, subfamily G, 105 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CTTCTCTGCAGGGCTGGCCTA 0.527 19 214 --- --- --- --- PASS OR5B12 390191 broad.mit.edu 37 11 58207516 58207516 + Missense_Mutation SNP G C C TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr11:58207516G>C uc010rkh.1 - 1 109 c.109C>G c.(109-111)CTG>GTG p.L37V NM_001004733 NP_001004733 Q96R08 OR5BC_HUMAN olfactory receptor, family 5, subfamily B, 37 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(5;0.0027) Breast(21;0.0778) TTCCCAACCAGAGTGATGAGG 0.483 49 108 --- --- --- --- PASS EEF1G 1937 broad.mit.edu 37 11 62339045 62339045 + Silent SNP G A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr11:62339045G>A uc001ntm.1 - 4 491 c.345C>T c.(343-345)TTC>TTT p.F115F EEF1G_uc010rlw.1_Silent_p.F165F|EEF1G_uc001ntn.1_5'UTR NM_001404 NP_001395 P26641 EF1G_HUMAN eukaryotic translation elongation factor 1 115 GST C-terminal. response to virus cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity 0 CCAAGGTGGGGAACACCCAGG 0.587 4 9 --- --- --- --- PASS EEF1G 1937 broad.mit.edu 37 11 62340129 62340129 + Missense_Mutation SNP G C C TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr11:62340129G>C uc001ntm.1 - 2 244 c.98C>G c.(97-99)TCC>TGC p.S33C EEF1G_uc010rlw.1_Missense_Mutation_p.S83C|EEF1G_uc001ntn.1_5'UTR NM_001404 NP_001395 P26641 EF1G_HUMAN eukaryotic translation elongation factor 1 33 GST N-terminal. response to virus cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity 0 GGGTGGTGCGGAGAGCACGCG 0.567 65 153 --- --- --- --- PASS CABP2 51475 broad.mit.edu 37 11 67287587 67287587 + Missense_Mutation SNP G T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr11:67287587G>T uc001omc.1 - 5 526 c.424C>A c.(424-426)CCC>ACC p.P142T CABP2_uc001omd.1_Missense_Mutation_p.P85T|CABP2_uc001ome.1_Missense_Mutation_p.P148T NM_016366 NP_057450 Q9NPB3 CABP2_HUMAN calcium binding protein 2 isoform 1 142 EF-hand 2. signal transduction Golgi apparatus|perinuclear region of cytoplasm|plasma membrane calcium ion binding skin(1) 1 AGCAGCTTGGGGCCCATCAGC 0.672 16 48 --- --- --- --- PASS GDPD4 220032 broad.mit.edu 37 11 76956540 76956540 + Missense_Mutation SNP G T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr11:76956540G>T uc001oyf.2 - 11 1123 c.872C>A c.(871-873)CCA>CAA p.P291Q NM_182833 NP_878253 Q6W3E5 GDPD4_HUMAN glycerophosphodiester phosphodiesterase domain 291 GDPD.|Extracellular (Potential). glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding skin(1) 1 ATTGTAAAATGGCCTGAGCTA 0.378 25 69 --- --- --- --- PASS ACSM4 341392 broad.mit.edu 37 12 7477188 7477188 + Silent SNP C T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr12:7477188C>T uc001qsx.1 + 11 1530 c.1530C>T c.(1528-1530)CGC>CGT p.R510R NM_001080454 NP_001073923 P0C7M7 ACSM4_HUMAN acyl-CoA synthetase medium-chain family member 4 510 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding 0 ATCAAATCCGCGGAGAGGTAG 0.428 15 107 --- --- --- --- PASS AICDA 57379 broad.mit.edu 37 12 8758043 8758043 + Silent SNP G A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr12:8758043G>A uc001qur.2 - 3 274 c.195C>T c.(193-195)ATC>ATT p.I65I AICDA_uc001qup.1_Silent_p.I60I|AICDA_uc001quq.1_Silent_p.I60I|AICDA_uc009zgd.1_Intron NM_020661 NP_065712 Q9GZX7 AICDA_HUMAN activation-induced cytidine deaminase 65 B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing cytoplasm cytidine deaminase activity|protein binding|zinc ion binding ovary(1)|pancreas(1) 2 Lung SC(5;0.184) CCCAGTCCGAGATGTAGCGGA 0.582 Immune_Deficiency_with_Hyper-IgM 23 159 --- --- --- --- PASS A2ML1 144568 broad.mit.edu 37 12 9000285 9000285 + Missense_Mutation SNP C A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr12:9000285C>A uc001quz.3 + 15 1922 c.1824C>A c.(1822-1824)AGC>AGA p.S608R A2ML1_uc001qva.1_Missense_Mutation_p.S188R|A2ML1_uc010sgm.1_Missense_Mutation_p.S108R NM_144670 NP_653271 A8K2U0 A2ML1_HUMAN alpha-2-macroglobulin-like 1 precursor 452 extracellular space endopeptidase inhibitor activity ovary(2)|skin(1) 3 GAGAGCTGAGCAACCGCTCTG 0.557 136 271 --- --- --- --- PASS CSDA 8531 broad.mit.edu 37 12 10875467 10875467 + Missense_Mutation SNP C G G rs148187553 by1000genomes TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr12:10875467C>G uc001qyt.2 - 1 487 c.244G>C c.(244-246)GCG>CCG p.A82P CSDA_uc001qyu.2_Missense_Mutation_p.A82P NM_003651 NP_003642 P16989 DBPA_HUMAN cold shock domain protein A isoform a 82 negative regulation of transcription from RNA polymerase II promoter|response to cold cytoplasm|nucleus double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(2)|lung(1)|large_intestine(1) 4 Glioma(1;0.155) TTTTTCTCCGCGTCTTCGCTG 0.393 9 18 --- --- --- --- PASS SLCO1B1 10599 broad.mit.edu 37 12 21349929 21349929 + Nonsense_Mutation SNP G A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr12:21349929G>A uc001req.3 + 8 881 c.777G>A c.(775-777)TGG>TGA p.W259* NM_006446 NP_006437 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, 259 Helical; Name=6; (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) GAGCTTGGTGGCTTAATTTCC 0.348 74 140 --- --- --- --- PASS FMNL3 91010 broad.mit.edu 37 12 50048058 50048058 + Missense_Mutation SNP C A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr12:50048058C>A uc001ruv.1 - 11 1222 c.988G>T c.(988-990)GTG>TTG p.V330L FMNL3_uc001ruw.1_Missense_Mutation_p.V279L|FMNL3_uc001rut.1_5'Flank|FMNL3_uc001ruu.1_Missense_Mutation_p.V180L NM_175736 NP_783863 Q8IVF7 FMNL3_HUMAN formin-like 3 isoform 1 330 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding breast(2)|pancreas(2) 4 GAGTGCACCACGATGTTGATG 0.577 37 59 --- --- --- --- PASS FRS2 10818 broad.mit.edu 37 12 69968110 69968110 + Missense_Mutation SNP T C C TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr12:69968110T>C uc001suy.2 + 10 1412 c.902T>C c.(901-903)GTT>GCT p.V301A FRS2_uc001suz.2_Missense_Mutation_p.V301A|FRS2_uc009zrj.2_Missense_Mutation_p.V301A|FRS2_uc009zrk.2_Missense_Mutation_p.V301A NM_006654 NP_006645 Q8WU20 FRS2_HUMAN fibroblast growth factor receptor substrate 2 301 activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway endomembrane system|endosome|integral to plasma membrane|membrane fraction fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity prostate(1)|kidney(1) 2 Breast(13;2.15e-06)|Esophageal squamous(21;0.187) Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) GCACCCTCTGTTAACAAACTG 0.468 47 185 --- --- --- --- PASS KCNC2 3747 broad.mit.edu 37 12 75437012 75437012 + Missense_Mutation SNP T G G TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr12:75437012T>G uc001sxg.1 - 5 2334 c.1790A>C c.(1789-1791)AAA>ACA p.K597T KCNC2_uc009zry.2_Intron|KCNC2_uc001sxe.2_Intron|KCNC2_uc001sxf.2_Intron|KCNC2_uc010stw.1_Missense_Mutation_p.K542T NM_139137 NP_631875 Q96PR1 KCNC2_HUMAN Shaw-related voltage-gated potassium channel 597 Cytoplasmic (Potential). energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(2)|pancreas(2)|skin(1)|lung(1) 6 GCTTCGGGATTTTTCATATCC 0.428 26 70 --- --- --- --- PASS RAD9B 144715 broad.mit.edu 37 12 110950672 110950672 + Missense_Mutation SNP G C C TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr12:110950672G>C uc001trf.3 + 5 615 c.477G>C c.(475-477)ATG>ATC p.M159I RAD9B_uc001trg.3_Missense_Mutation_p.M159I|RAD9B_uc010sya.1_Intron|RAD9B_uc001tre.3_Missense_Mutation_p.M87I|RAD9B_uc001trd.3_Missense_Mutation_p.M1I NM_152442 NP_689655 Q6WBX8 RAD9B_HUMAN RAD9 homolog B 156 cell cycle checkpoint|DNA repair|DNA replication nucleoplasm protein binding pancreas(1)|skin(1) 2 ATACGCTAATGATTCAACCAA 0.333 OREG0022115 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 9 --- --- --- --- PASS SRRM4 84530 broad.mit.edu 37 12 119419763 119419763 + Missense_Mutation SNP C A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr12:119419763C>A uc001txa.1 + 1 368 c.76C>A c.(76-78)CCC>ACC p.P26T NM_194286 NP_919262 A7MD48 SRRM4_HUMAN KIAA1853 protein 26 cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing nucleus mRNA binding ovary(2) 2 GGTGGCCACCCCCCGTCCCGA 0.597 7 26 --- --- --- --- PASS TCTN2 79867 broad.mit.edu 37 12 124163771 124163771 + Missense_Mutation SNP C T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr12:124163771C>T uc001ufp.2 + 5 627 c.499C>T c.(499-501)CCC>TCC p.P167S TCTN2_uc009zya.2_Missense_Mutation_p.P166S NM_024809 NP_079085 Q96GX1 TECT2_HUMAN tectonic family member 2 isoform 1 167 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) GGTGTATCAGCCCCTTGGCCC 0.438 103 339 --- --- --- --- PASS DNAH10 196385 broad.mit.edu 37 12 124352116 124352116 + Nonsense_Mutation SNP A T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr12:124352116A>T uc001uft.3 + 41 6941 c.6916A>T c.(6916-6918)AAG>TAG p.K2306* NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2306 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) AGAAAAGCTGAAGACAATAGT 0.398 31 31 --- --- --- --- PASS C13orf26 122046 broad.mit.edu 37 13 31543082 31543082 + Missense_Mutation SNP A G G TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr13:31543082A>G uc001uti.2 + 6 726 c.707A>G c.(706-708)TAC>TGC p.Y236C NM_152325 NP_689538 Q8N6G2 CM026_HUMAN hypothetical protein LOC122046 236 ovary(2)|skin(1) 3 Lung SC(185;0.0281) all cancers(112;0.0176)|Epithelial(112;0.0768)|OV - Ovarian serous cystadenocarcinoma(117;0.0852) CAGACCACATACCAAAGTGAC 0.443 121 93 --- --- --- --- PASS ELF1 1997 broad.mit.edu 37 13 41507906 41507906 + Missense_Mutation SNP C A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr13:41507906C>A uc001uxs.2 - 9 1888 c.1515G>T c.(1513-1515)CAG>CAT p.Q505H ELF1_uc010tfc.1_Missense_Mutation_p.Q481H|ELF1_uc010acd.2_Missense_Mutation_p.Q398H NM_172373 NP_758961 P32519 ELF1_HUMAN E74-like factor 1 (ets domain transcription 505 positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367) all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072) TAAGGACCTGCTGAACCTGGG 0.507 146 108 --- --- --- --- PASS PCDH20 64881 broad.mit.edu 37 13 61988090 61988090 + Missense_Mutation SNP G C C TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr13:61988090G>C uc001vid.3 - 2 506 c.142C>G c.(142-144)CTG>GTG p.L48V PCDH20_uc010thj.1_Missense_Mutation_p.L48V NM_022843 NP_073754 Q8N6Y1 PCD20_HUMAN protocadherin 20 21 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|breast(1)|central_nervous_system(1) 6 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) AGGAAAAACAGAAACAGATGC 0.577 12 44 --- --- --- --- PASS DOCK9 23348 broad.mit.edu 37 13 99508182 99508182 + Missense_Mutation SNP C G G TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr13:99508182C>G uc001vnt.2 - 34 3859 c.3804G>C c.(3802-3804)AGG>AGC p.R1268S DOCK9_uc001vnw.2_Missense_Mutation_p.R1267S|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.R1268S|DOCK9_uc010tip.1_5'Flank|DOCK9_uc010tiq.1_Missense_Mutation_p.R246S|DOCK9_uc010afu.1_3'UTR NM_015296 NP_056111 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 isoform a 1268 blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity central_nervous_system(1) 1 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TCTCACTATTCCTTTCTGGAA 0.398 6 274 --- --- --- --- PASS SNRPN 6638 broad.mit.edu 37 15 25222054 25222054 + Missense_Mutation SNP G A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr15:25222054G>A uc001ywp.1 + 10 1188 c.298G>A c.(298-300)GCT>ACT p.A100T SNRPN_uc001ywq.1_Missense_Mutation_p.A100T|SNRPN_uc001ywr.1_Missense_Mutation_p.A100T|SNRPN_uc001yws.1_Missense_Mutation_p.A100T|SNRPN_uc001ywt.1_Missense_Mutation_p.A100T|SNRPN_uc001ywv.1_Missense_Mutation_p.A103T|SNRPN_uc001yww.1_Missense_Mutation_p.A100T|SNRPN_uc001ywx.1_Missense_Mutation_p.A100T|SNRPN_uc001ywz.1_Intron|PAR-SN_uc001yxa.1_Intron|SNRPN_uc001ywy.1_3'UTR NM_022807 NP_073718 P63162 RSMN_HUMAN small nuclear ribonucleoprotein polypeptide N 100 RNA splicing small nuclear ribonucleoprotein complex|spliceosomal complex identical protein binding|RNA binding ovary(1) 1 all_cancers(20;9.33e-22)|Breast(32;0.000625) all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125) ACTTGCTGGAGCTGCTGGAGG 0.517 Prader-Willi_syndrome 56 119 --- --- --- --- PASS RPAP1 26015 broad.mit.edu 37 15 41817271 41817271 + Missense_Mutation SNP C T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr15:41817271C>T uc001zod.2 - 15 2117 c.1993G>A c.(1993-1995)GAG>AAG p.E665K RPAP1_uc001zoc.2_5'Flank NM_015540 NP_056355 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 665 nucleus DNA binding|DNA-directed RNA polymerase activity large_intestine(1) 1 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) TCAGCTTCCTCTGGGGGCAAG 0.617 42 51 --- --- --- --- PASS GOLGA6A 342096 broad.mit.edu 37 15 74365125 74365125 + Nonsense_Mutation SNP G A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr15:74365125G>A uc002axa.1 - 13 1500 c.1459C>T c.(1459-1461)CAG>TAG p.Q487* NM_001038640 NP_001033729 Q9NYA3 GOG6A_HUMAN golgi autoantigen, golgin subfamily a, 6 487 Potential. 0 GTCTCTAGCTGTTGGTTCTGG 0.612 42 230 --- --- --- --- PASS PDE8A 5151 broad.mit.edu 37 15 85619972 85619972 + Missense_Mutation SNP G C C TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr15:85619972G>C uc002blh.2 + 5 689 c.500G>C c.(499-501)AGA>ACA p.R167T PDE8A_uc002bli.2_Missense_Mutation_p.R167T|PDE8A_uc010bnc.2_5'UTR|PDE8A_uc010bnd.2_5'UTR|PDE8A_uc002blj.2_5'UTR|PDE8A_uc002blk.2_5'UTR NM_002605 NP_002596 O60658 PDE8A_HUMAN phosphodiesterase 8A isoform 1 167 cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity ovary(2)|pancreas(1)|skin(1) 4 Colorectal(223;0.227) BRCA - Breast invasive adenocarcinoma(143;0.0608) AGGGTGGATAGAGAAGAGTTG 0.289 15 156 --- --- --- --- PASS OR4F6 390648 broad.mit.edu 37 15 102346255 102346255 + Missense_Mutation SNP G C C TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr15:102346255G>C uc010utr.1 + 1 333 c.333G>C c.(331-333)GAG>GAC p.E111D NM_001005326 NP_001005326 Q8NGB9 OR4F6_HUMAN olfactory receptor, family 4, subfamily F, 111 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) GGGGAACTGAGATGGTGCTGC 0.458 20 507 --- --- --- --- PASS CLCN7 1186 broad.mit.edu 37 16 1510444 1510444 + Missense_Mutation SNP C T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr16:1510444C>T uc002clv.2 - 6 679 c.569G>A c.(568-570)GGC>GAC p.G190D CLCN7_uc002clw.2_Missense_Mutation_p.G166D NM_001287 NP_001278 P51798 CLCN7_HUMAN chloride channel 7 isoform a 190 Helical; (By similarity). integral to membrane|lysosomal membrane antiporter activity|ATP binding|voltage-gated chloride channel activity central_nervous_system(2)|ovary(1)|skin(1) 4 Hepatocellular(780;0.0893) AATCACAGAGCCCACGAGCAC 0.597 54 93 --- --- --- --- PASS PKD1 5310 broad.mit.edu 37 16 2153650 2153650 + Missense_Mutation SNP C A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr16:2153650C>A uc002cos.1 - 23 8617 c.8408G>T c.(8407-8409)GGC>GTC p.G2803V PKD1_uc002cot.1_Missense_Mutation_p.G2803V|PKD1_uc010bse.1_RNA NM_001009944 NP_001009944 P98161 PKD1_HUMAN polycystin 1 isoform 1 precursor 2803 Extracellular (Potential).|REJ. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding central_nervous_system(2)|skin(1) 3 GAAGTGGCAGCCAGGCCCTGG 0.667 36 75 --- --- --- --- PASS GRIN2A 2903 broad.mit.edu 37 16 9892311 9892311 + Missense_Mutation SNP C T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr16:9892311C>T uc002czo.3 - 11 2727 c.2179G>A c.(2179-2181)GCT>ACT p.A727T GRIN2A_uc010uym.1_Missense_Mutation_p.A727T|GRIN2A_uc010uyn.1_Missense_Mutation_p.A570T|GRIN2A_uc002czr.3_Missense_Mutation_p.A727T NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 727 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TAGATGAAAGCGTCCAGCTTC 0.572 19 52 --- --- --- --- PASS SLC5A11 115584 broad.mit.edu 37 16 24895442 24895442 + Missense_Mutation SNP G C C TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr16:24895442G>C uc002dmu.2 + 8 886 c.654G>C c.(652-654)TTG>TTC p.L218F SLC5A11_uc002dms.2_Missense_Mutation_p.L154F|SLC5A11_uc010vcd.1_Missense_Mutation_p.L183F|SLC5A11_uc002dmt.2_Missense_Mutation_p.L154F|SLC5A11_uc010vce.1_Missense_Mutation_p.L148F|SLC5A11_uc010bxt.2_Missense_Mutation_p.L154F NM_052944 NP_443176 Q8WWX8 SC5AB_HUMAN solute carrier family 5 (sodium/glucose 218 Helical; (Potential). apoptosis|carbohydrate transport|sodium ion transport integral to membrane|plasma membrane polyol transmembrane transporter activity|symporter activity ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0365) CGCTCACCTTGATGGGCTACA 0.592 117 301 --- --- --- --- PASS CLN3 1201 broad.mit.edu 37 16 28493970 28493970 + Missense_Mutation SNP G A A rs113041302 TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr16:28493970G>A uc002dpo.2 - 10 1137 c.814C>T c.(814-816)CGG>TGG p.R272W uc010vct.1_Intron|CLN3_uc002dpl.2_Missense_Mutation_p.R194W|CLN3_uc010vcu.1_Missense_Mutation_p.R172W|CLN3_uc002dpn.2_Missense_Mutation_p.R173W|CLN3_uc002dpm.2_Missense_Mutation_p.R218W|CLN3_uc010vcv.1_Missense_Mutation_p.R248W|CLN3_uc010byd.2_Missense_Mutation_p.R272W|CLN3_uc002dpp.2_Missense_Mutation_p.R272W|CLN3_uc002dpt.1_Missense_Mutation_p.R172W|CLN3_uc002dpq.1_Missense_Mutation_p.R224W|CLN3_uc010bye.1_Missense_Mutation_p.R272W|CLN3_uc002dpr.1_RNA|CLN3_uc010byf.1_RNA|CLN3_uc002dps.1_Missense_Mutation_p.R145W|CLN3_uc002dpu.1_Missense_Mutation_p.R170W|CLN3_uc002dpw.1_Missense_Mutation_p.R119W|CLN3_uc010vcw.1_Missense_Mutation_p.R218W|CLN3_uc002dqa.2_Missense_Mutation_p.R323W|CLN3_uc010vcx.1_Missense_Mutation_p.R172W|CLN3_uc002dpx.1_Missense_Mutation_p.R149W|CLN3_uc002dpy.1_Missense_Mutation_p.R116W NM_000086 NP_000077 Q13286 CLN3_HUMAN ceroid-lipofuscinosis, neuronal 3 272 amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network unfolded protein binding 0 CACCTTTCCCGAAGGGAGAGG 0.562 55 96 --- --- --- --- PASS SRCAP 10847 broad.mit.edu 37 16 30748643 30748643 + Missense_Mutation SNP C T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr16:30748643C>T uc002dze.1 + 34 7667 c.7282C>T c.(7282-7284)CGC>TGC p.R2428C SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.R2223C NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Snf2-related CBP activator protein 2428 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity ovary(3)|skin(1) 4 Colorectal(24;0.198) CACACCACCCCGCTGCAGTCC 0.413 21 67 --- --- --- --- PASS ZNF646 9726 broad.mit.edu 37 16 31089490 31089490 + Silent SNP G A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr16:31089490G>A uc002eap.2 + 2 2134 c.1845G>A c.(1843-1845)AGG>AGA p.R615R NM_014699 NP_055514 O15015 ZN646_HUMAN zinc finger protein 646 615 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(2) 2 CACCTCCTAGGGCCTTTGCCT 0.547 28 53 --- --- --- --- PASS MMP2 4313 broad.mit.edu 37 16 55516925 55516925 + Silent SNP A C C TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr16:55516925A>C uc002ehz.3 + 2 569 c.258A>C c.(256-258)ACA>ACC p.T86T MMP2_uc010vhd.1_Silent_p.T10T|MMP2_uc010ccc.2_Silent_p.T36T NM_004530 NP_004521 P08253 MMP2_HUMAN matrix metalloproteinase 2 isoform a 86 angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 11 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) TGCCCCAGACAGGTGATCTTG 0.537 64 171 --- --- --- --- PASS KATNB1 10300 broad.mit.edu 37 16 57787893 57787893 + Missense_Mutation SNP C A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr16:57787893C>A uc002eml.1 + 13 1588 c.1214C>A c.(1213-1215)GCA>GAA p.A405E NM_005886 NP_005877 Q9BVA0 KTNB1_HUMAN katanin p80 subunit B 1 405 Interaction with PAFAH1B1 (By similarity). cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting katanin complex|microtubule|spindle pole microtubule binding|protein heterodimerization activity 0 all_neural(199;0.223) CCCTTCCCTGCACCCCCAGAG 0.662 37 65 --- --- --- --- PASS CHST6 4166 broad.mit.edu 37 16 75512862 75512862 + Missense_Mutation SNP C T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr16:75512862C>T uc002fef.2 - 3 1045 c.865G>A c.(865-867)GCC>ACC p.A289T CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Missense_Mutation_p.A289T NM_021615 NP_067628 Q9GZX3 CHST6_HUMAN carbohydrate (N-acetylglucosamine 6-O) 289 Lumenal (Potential). keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process Golgi membrane|integral to membrane N-acetylglucosamine 6-O-sulfotransferase activity 0 CCAGTGAAGGCGTAGAGCGCA 0.657 45 104 --- --- --- --- PASS ZBTB4 57659 broad.mit.edu 37 17 7365286 7365286 + Silent SNP C T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr17:7365286C>T uc002ghc.3 - 4 3265 c.3015G>A c.(3013-3015)GAG>GAA p.E1005E ZBTB4_uc002ghd.3_Silent_p.E1005E NM_001128833 NP_001122305 Q9P1Z0 ZBTB4_HUMAN zinc finger and BTB domain containing 4 1005 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|central_nervous_system(1) 4 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642) TCTGGGTTCTCTCAACCCCTG 0.622 7 155 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7577105 7577105 + Missense_Mutation SNP G C C TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr17:7577105G>C uc002gim.2 - 8 1027 c.833C>G c.(832-834)CCT>CGT p.P278R TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.P278R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.P146R|TP53_uc010cng.1_Missense_Mutation_p.P146R|TP53_uc002gii.1_Missense_Mutation_p.P146R|TP53_uc010cnh.1_Missense_Mutation_p.P278R|TP53_uc010cni.1_Missense_Mutation_p.P278R|TP53_uc002gij.2_Missense_Mutation_p.P278R NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 278 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.P278L(52)|p.P278S(48)|p.P278R(26)|p.P278T(21)|p.P278A(17)|p.P278H(11)|p.0?(7)|p.P278fs*67(5)|p.P278F(3)|p.P278fs*28(2)|p.?(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.V274_P278del(1)|p.P278P(1)|p.C277_P278insXXXXXXX(1)|p.F270_D281del12(1)|p.P278_G279insXXXXX(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275fs*20(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GTCTCTCCCAGGACAGGCACA 0.552 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 61 35 --- --- --- --- PASS NTN1 9423 broad.mit.edu 37 17 8926324 8926324 + Missense_Mutation SNP C T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr17:8926324C>T uc002glw.3 + 2 741 c.634C>T c.(634-636)CCG>TCG p.P212S NM_004822 NP_004813 O95631 NET1_HUMAN netrin 1 precursor 212 Laminin N-terminal. apoptosis|axon guidance protein binding 0 CGACATGCGCCCGCTCTCGGG 0.697 6 23 --- --- --- --- PASS TTC19 54902 broad.mit.edu 37 17 15928468 15928468 + Missense_Mutation SNP G A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr17:15928468G>A uc002gph.1 + 8 1195 c.1177G>A c.(1177-1179)GGA>AGA p.G393R TTC19_uc010cox.1_RNA|TTC19_uc002gpk.3_Missense_Mutation_p.G35R|TTC19_uc002gpj.2_Missense_Mutation_p.G35R NM_017775 NP_060245 Q6DKK2 TTC19_HUMAN tetratricopeptide repeat domain 19 272 cell cycle|cytokinesis|mitochondrial respiratory chain complex III assembly centrosome|midbody|mitochondrial inner membrane protein binding skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) AGAAATACAAGGAGAAAGACA 0.448 3 65 --- --- --- --- PASS ATAD5 79915 broad.mit.edu 37 17 29192760 29192760 + Nonsense_Mutation SNP C T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr17:29192760C>T uc002hfs.1 + 11 3521 c.3175C>T c.(3175-3177)CAA>TAA p.Q1059* ATAD5_uc002hft.1_Nonsense_Mutation_p.Q956* NM_024857 NP_079133 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 1059 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity ovary(3) 3 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) AGAAAAGTATCAACCTCAGAC 0.294 8 56 --- --- --- --- PASS ATAD5 79915 broad.mit.edu 37 17 29192766 29192766 + Nonsense_Mutation SNP C T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr17:29192766C>T uc002hfs.1 + 11 3527 c.3181C>T c.(3181-3183)CAG>TAG p.Q1061* ATAD5_uc002hft.1_Nonsense_Mutation_p.Q958* NM_024857 NP_079133 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 1061 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity ovary(3) 3 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) GTATCAACCTCAGACTGCCAG 0.299 7 57 --- --- --- --- PASS ATAD5 79915 broad.mit.edu 37 17 29192774 29192774 + Silent SNP C T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr17:29192774C>T uc002hfs.1 + 11 3535 c.3189C>T c.(3187-3189)GCC>GCT p.A1063A ATAD5_uc002hft.1_Silent_p.A960A NM_024857 NP_079133 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 1063 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity ovary(3) 3 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) CTCAGACTGCCAGTGAACTTA 0.303 6 57 --- --- --- --- PASS LRRC46 90506 broad.mit.edu 37 17 45913745 45913745 + Missense_Mutation SNP C A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr17:45913745C>A uc002ima.2 + 7 755 c.499C>A c.(499-501)CAG>AAG p.Q167K LRRC46_uc002imb.2_Missense_Mutation_p.Q120K NM_033413 NP_219481 Q96FV0 LRC46_HUMAN leucine rich repeat containing 46 167 LRRCT. ovary(1) 1 CCTGGACGGGCAGCCTGTGGT 0.607 46 80 --- --- --- --- PASS MSI2 124540 broad.mit.edu 37 17 55693391 55693391 + Missense_Mutation SNP G A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr17:55693391G>A uc002iuz.1 + 9 771 c.598G>A c.(598-600)GCC>ACC p.A200T MSI2_uc010wnm.1_Missense_Mutation_p.A178T|MSI2_uc002iva.2_Missense_Mutation_p.A196T NM_138962 NP_620412 Q96DH6 MSI2H_HUMAN musashi 2 isoform a 200 cytoplasm nucleotide binding|RNA binding central_nervous_system(1)|pancreas(1) 2 Breast(9;1.78e-08) GBM - Glioblastoma multiforme(1;0.0025) AAGAGGCCGGGCCCGGGGACT 0.488 T HOXA9 CML 83 253 --- --- --- --- PASS TMEM49 81671 broad.mit.edu 37 17 57816265 57816265 + Missense_Mutation SNP C G G TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr17:57816265C>G uc002ixu.3 + 5 644 c.371C>G c.(370-372)TCT>TGT p.S124C TMEM49_uc010wog.1_5'UTR|TMEM49_uc010woh.1_Missense_Mutation_p.S124C|TMEM49_uc010woi.1_Missense_Mutation_p.S27C|TMEM49_uc010woj.1_Intron NM_030938 NP_112200 Q96GC9 VMP1_HUMAN transmembrane protein 49 124 Helical; (Potential). autophagy|cell adhesion endoplasmic reticulum|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane|vacuolar membrane 0 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;1.15e-09)|all cancers(12;1.15e-08) ATTTTGTCTTCTGTTGGGCTT 0.353 72 167 --- --- --- --- PASS CA4 762 broad.mit.edu 37 17 58233923 58233923 + Missense_Mutation SNP C G G TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr17:58233923C>G uc002iym.3 + 3 209 c.115C>G c.(115-117)CCA>GCA p.P39A CA4_uc010wou.1_RNA NM_000717 NP_000708 P22748 CAH4_HUMAN carbonic anhydrase IV precursor 39 bicarbonate transport|one-carbon metabolic process anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane carbonate dehydratase activity|protein binding|zinc ion binding 0 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.83e-12)|all cancers(12;6.83e-11) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021) CTGCTCAGTGCCAGTCAAGTG 0.592 50 135 --- --- --- --- PASS MARCH10 162333 broad.mit.edu 37 17 60865910 60865910 + Silent SNP G C C TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr17:60865910G>C uc010ddr.2 - 3 379 c.141C>G c.(139-141)CGC>CGG p.R47R MARCH10_uc002jag.3_Silent_p.R47R|MARCH10_uc010dds.2_Silent_p.R47R|MARCH10_uc002jah.2_Silent_p.R47R NM_001100875 NP_001094345 Q8NA82 MARHA_HUMAN ring finger protein 190 47 ligase activity|zinc ion binding 0 AAAACTGATCGCGTTTCTTCT 0.443 58 121 --- --- --- --- PASS TBCD 6904 broad.mit.edu 37 17 80887328 80887328 + Silent SNP C T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr17:80887328C>T uc002kfz.2 + 32 3073 c.2943C>T c.(2941-2943)CAC>CAT p.H981H TBCD_uc002kfy.1_Silent_p.H981H|TBCD_uc002kgb.1_Silent_p.H306H|TBCD_uc002kgc.2_Silent_p.H126H|TBCD_uc002kgd.2_Translation_Start_Site NM_005993 NP_005984 Q9BTW9 TBCD_HUMAN beta-tubulin cofactor D 981 'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction beta-tubulin binding|chaperone binding|GTPase activator activity 0 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0266)|all_epithelial(8;0.0696) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18) ACCGCTACCACGTCCTGCTGG 0.672 16 50 --- --- --- --- PASS SLC14A2 8170 broad.mit.edu 37 18 43219741 43219741 + Missense_Mutation SNP C G G TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr18:43219741C>G uc010dnj.2 + 8 1195 c.874C>G c.(874-876)CAG>GAG p.Q292E SLC14A2_uc002lbb.2_Missense_Mutation_p.Q292E|SLC14A2_uc002lbe.2_Missense_Mutation_p.Q292E NM_007163 NP_009094 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), 292 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 TGGGGTCGGCCAGGTGTATGG 0.527 157 209 --- --- --- --- PASS SMAD2 4087 broad.mit.edu 37 18 45371772 45371772 + Missense_Mutation SNP G C C TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr18:45371772G>C uc002lcy.2 - 10 1467 c.1219C>G c.(1219-1221)CAG>GAG p.Q407E SMAD2_uc002lcz.2_Missense_Mutation_p.Q407E|SMAD2_uc010xdc.1_Missense_Mutation_p.Q377E|SMAD2_uc010xdd.1_Missense_Mutation_p.Q377E NM_005901 NP_005892 Q15796 SMAD2_HUMAN Sma- and Mad-related protein 2 isoform 1 407 MH2. anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis activin responsive factor complex|cytosol activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding large_intestine(3)|lung(1)|central_nervous_system(1) 5 CTAGTTAGCTGATAGACGGCT 0.393 58 164 --- --- --- --- PASS MEX3C 51320 broad.mit.edu 37 18 48703446 48703446 + Missense_Mutation SNP C T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr18:48703446C>T uc002lfc.3 - 2 1255 c.1255G>A c.(1255-1257)GGC>AGC p.G419S NM_016626 NP_057710 Q5U5Q3 MEX3C_HUMAN ring finger and KH domain containing 2 419 cytoplasm|nucleus RNA binding|zinc ion binding lung(2)|ovary(1)|skin(1) 4 Colorectal(6;0.003)|all_epithelial(6;0.0473) Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15) CCAAGAGTGCCACCTTCAAAG 0.428 36 136 --- --- --- --- PASS GDF15 9518 broad.mit.edu 37 19 18497103 18497103 + Missense_Mutation SNP C T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr19:18497103C>T uc002niv.2 + 1 136 c.104C>T c.(103-105)GCG>GTG p.A35V hsa-mir-3189|MI0014233_5'Flank NM_004864 NP_004855 Q99988 GDF15_HUMAN growth differentiation factor 15 35 cell-cell signaling|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity central_nervous_system(1) 1 CTGGCCGAGGCGAGCCGCGCA 0.637 17 46 --- --- --- --- PASS CEACAM20 125931 broad.mit.edu 37 19 45017314 45017314 + Silent SNP G A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr19:45017314G>A uc010ejn.1 - 7 1360 c.1344C>T c.(1342-1344)ATC>ATT p.I448I CEACAM20_uc010ejo.1_Silent_p.I448I|CEACAM20_uc010ejp.1_Silent_p.I355I|CEACAM20_uc010ejq.1_Silent_p.I355I NM_001102597 NP_001096067 Q6UY09 CEA20_HUMAN carcinoembryonic antigen-related cell adhesion 448 Extracellular (Potential). integral to membrane large_intestine(2) 2 Prostate(69;0.0352) CAATACCAGCGATGGCCCCTG 0.567 OREG0025538 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 32 --- --- --- --- PASS RUVBL2 10856 broad.mit.edu 37 19 49507558 49507558 + Silent SNP C T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr19:49507558C>T uc002plr.1 + 4 161 c.148C>T c.(148-150)CTG>TTG p.L50L RUVBL2_uc002plq.1_Silent_p.L5L|RUVBL2_uc010yab.1_Silent_p.L50L|RUVBL2_uc002pls.1_RNA|RUVBL2_uc010emn.1_Silent_p.L5L|RUVBL2_uc010yac.1_Silent_p.L5L NM_006666 NP_006657 Q9Y230 RUVB2_HUMAN RuvB-like 2 50 cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding 0 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047) GGTGGGTCAGCTGGCGGCACG 0.632 5 71 --- --- --- --- PASS ZNF836 162962 broad.mit.edu 37 19 52659421 52659421 + Missense_Mutation SNP T A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr19:52659421T>A uc010ydi.1 - 5 1889 c.1515A>T c.(1513-1515)AAA>AAT p.K505N ZNF836_uc010ydj.1_Missense_Mutation_p.K505N NM_001102657 NP_001096127 Q6ZNA1 ZN836_HUMAN zinc finger protein 836 505 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GTTTAAAGGCTTTACCACATT 0.403 6 60 --- --- --- --- PASS ZNF468 90333 broad.mit.edu 37 19 53345176 53345176 + Missense_Mutation SNP C A A rs61732713 byFrequency TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr19:53345176C>A uc002qaf.2 - 4 522 c.371G>T c.(370-372)GGC>GTC p.G124V ZNF468_uc002qae.2_Missense_Mutation_p.G71V NM_001008801 NP_001008801 Q5VIY5 ZN468_HUMAN zinc finger protein ZNF468 isoform 2 124 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GBM - Glioblastoma multiforme(134;0.0358) ATCATGTTGGCCTGTACTACC 0.433 149 194 --- --- --- --- PASS SIGLEC1 6614 broad.mit.edu 37 20 3677923 3677923 + Missense_Mutation SNP T A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr20:3677923T>A uc002wja.2 - 9 2189 c.2189A>T c.(2188-2190)AAC>ATC p.N730I SIGLEC1_uc002wiz.3_Missense_Mutation_p.N730I NM_023068 NP_075556 Q9BZZ2 SN_HUMAN sialoadhesin precursor 730 Ig-like C2-type 7.|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 CCGGCTCACGTTGCAAGTCAA 0.617 45 91 --- --- --- --- PASS C20orf29 55317 broad.mit.edu 37 20 3804819 3804819 + Missense_Mutation SNP C G G TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr20:3804819C>G uc002wjs.1 + 3 656 c.478C>G c.(478-480)CTG>GTG p.L160V C20orf29_uc002wjt.2_Missense_Mutation_p.L84V|C20orf29_uc002wju.1_Missense_Mutation_p.L160V NM_018347 NP_060817 Q9NUS5 CT029_HUMAN hypothetical protein LOC55317 160 double-strand break repair via homologous recombination protein binding skin(1) 1 CACCAGCCTTCTGCTGCGGGC 0.632 39 53 --- --- --- --- PASS EDEM2 55741 broad.mit.edu 37 20 33703374 33703374 + Silent SNP T A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr20:33703374T>A uc002xbo.2 - 11 1699 c.1599A>T c.(1597-1599)ACA>ACT p.T533T EDEM2_uc010zus.1_Silent_p.T312T|EDEM2_uc002xbq.2_Silent_p.T496T|EDEM2_uc010zut.1_Silent_p.T492T|EDEM2_uc002xbp.2_Silent_p.T381T|EDEM2_uc002xbn.2_Silent_p.T381T|EDEM2_uc002xbr.2_RNA|EDEM2_uc010zuu.1_Silent_p.T257T NM_018217 NP_060687 Q9BV94 EDEM2_HUMAN ER degradation enhancer, mannosidase alpha-like 533 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding 0 BRCA - Breast invasive adenocarcinoma(18;0.00936) GTGAGAAGAGTGTTCCTGGCC 0.522 252 521 --- --- --- --- PASS C20orf117 140710 broad.mit.edu 37 20 35443741 35443741 + Missense_Mutation SNP C T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr20:35443741C>T uc002xgd.1 - 5 1717 c.1390G>A c.(1390-1392)GAG>AAG p.E464K C20orf117_uc002xge.1_RNA NM_199181 NP_954650 O94964 K0889_HUMAN hypothetical protein LOC140710 isoform 2 464 0 Myeloproliferative disorder(115;0.00874) CTGGGGCCCTCGCTGTTGTCG 0.632 20 46 --- --- --- --- PASS C20orf117 140710 broad.mit.edu 37 20 35444170 35444170 + Missense_Mutation SNP C T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr20:35444170C>T uc002xgd.1 - 5 1288 c.961G>A c.(961-963)GAG>AAG p.E321K C20orf117_uc002xge.1_RNA NM_199181 NP_954650 O94964 K0889_HUMAN hypothetical protein LOC140710 isoform 2 321 0 Myeloproliferative disorder(115;0.00874) CAACTGTCCTCCGACAGCGCC 0.637 7 7 --- --- --- --- PASS KIAA1755 85449 broad.mit.edu 37 20 36845707 36845707 + Missense_Mutation SNP C T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr20:36845707C>T uc002xhy.1 - 13 3121 c.2849G>A c.(2848-2850)CGG>CAG p.R950Q KIAA1755_uc002xhv.1_5'UTR|KIAA1755_uc002xhw.1_Missense_Mutation_p.R5Q|KIAA1755_uc002xhx.1_Missense_Mutation_p.R228Q NM_001029864 NP_001025035 Q5JYT7 K1755_HUMAN hypothetical protein LOC85449 950 ovary(4)|pancreas(1) 5 Myeloproliferative disorder(115;0.00874) CGTGCGTTGCCGCTCGGCCGC 0.667 10 10 --- --- --- --- PASS PPP1R16B 26051 broad.mit.edu 37 20 37535686 37535686 + Missense_Mutation SNP A G G TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr20:37535686A>G uc002xje.2 + 8 1076 c.887A>G c.(886-888)GAG>GGG p.E296G PPP1R16B_uc010ggc.2_Missense_Mutation_p.E254G NM_015568 NP_056383 Q96T49 PP16B_HUMAN protein phosphatase 1 regulatory inhibitor 296 regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding upper_aerodigestive_tract(1)|kidney(1)|skin(1) 3 Myeloproliferative disorder(115;0.00878) TCCATGGATGAGATGCCAATA 0.458 46 134 --- --- --- --- PASS TLR7 51284 broad.mit.edu 37 X 12904872 12904872 + Missense_Mutation SNP C A A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chrX:12904872C>A uc004cvc.2 + 3 1384 c.1245C>A c.(1243-1245)AGC>AGA p.S415R NM_016562 NP_057646 Q9NYK1 TLR7_HUMAN toll-like receptor 7 precursor 415 Extracellular (Potential).|LRR 14. cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity ovary(2)|lung(2)|breast(1) 5 Imiquimod(DB00724) CTAACCTCAGCATGTTTAAAC 0.328 31 34 --- --- --- --- PASS MAGEB1 4112 broad.mit.edu 37 X 30268617 30268617 + Missense_Mutation SNP C T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chrX:30268617C>T uc004dcc.2 + 4 327 c.7C>T c.(7-9)CGG>TGG p.R3W MAGEB1_uc004dcd.2_Missense_Mutation_p.R3W|MAGEB1_uc004dce.2_Missense_Mutation_p.R3W NM_002363 NP_002354 P43366 MAGB1_HUMAN melanoma antigen family B, 1 3 0 CATCATGCCTCGGGGTCAGAA 0.557 16 4 --- --- --- --- PASS ZCCHC12 170261 broad.mit.edu 37 X 117960244 117960244 + Missense_Mutation SNP G T T TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chrX:117960244G>T uc004equ.2 + 4 1510 c.1037G>T c.(1036-1038)CGC>CTC p.R346L NM_173798 NP_776159 Q6PEW1 ZCH12_HUMAN zinc finger, CCHC domain containing 12 346 CCHC-type. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleic acid binding|zinc ion binding ovary(1) 1 CACACAATCCGCTGTTCGTAT 0.493 93 51 --- --- --- --- PASS SEPT7 989 broad.mit.edu 37 7 35942747 35942747 + Frame_Shift_Del DEL A - - TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr7:35942747delA uc010kxc.2 + 12 1389 c.1196delA c.(1195-1197)GAAfs p.E399fs SEPT7_uc011kat.1_Frame_Shift_Del_p.E398fs|SEPT7_uc011kau.1_Frame_Shift_Del_p.E363fs|SEPT7_uc011kav.1_Frame_Shift_Del_p.E346fs|SEPT7_uc003tey.2_Frame_Shift_Del_p.E247fs NM_001788 NP_001779 Q16181 SEPT7_HUMAN cell division cycle 10 isoform 1 399 Potential. cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber GTP binding|protein binding|structural molecule activity 0 GAATTGGAGGAAAAACGTCGT 0.373 4 2 --- --- --- --- EPPK1 83481 broad.mit.edu 37 8 144940080 144940081 + Splice_Site DEL AC - - rs35186960 TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr8:144940080_144940081delAC uc003zaa.1 - 3 15358 c.15345_splice c.e3-1 NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 cytoplasm|cytoskeleton protein binding|structural molecule activity pancreas(1)|skin(1) 2 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) aaaaaaaaaaacaaaaaaaaaa 0.342 3 3 --- --- --- --- CXADRP3 440224 broad.mit.edu 37 18 14479164 14479164 + RNA DEL C - - TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr18:14479164delC uc010xai.1 - 3 c.400delG NR_024076 Homo sapiens cDNA clone IMAGE:30390722, containing frame-shift errors. 0 TAGGTAGTTTCCCCTTTGGCT 0.507 48 24 --- --- --- --- ZCCHC3 85364 broad.mit.edu 37 20 278688 278690 + In_Frame_Del DEL CGG - - rs5839847 TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 2c58fa70-8fef-4a49-8cde-bfdc92e77919 2ffffd37-a4a8-43cc-8c62-86bcdcd3e3f0 g.chr20:278688_278690delCGG uc002wdf.2 + 1 485_487 c.461_463delCGG c.(460-465)CCGGCG>CCG p.A158del ZCCHC3_uc002wdg.2_Intron NM_033089 NP_149080 Q9NUD5 ZCHC3_HUMAN zinc finger, CCHC domain containing 3 158 Poly-Ala. nucleic acid binding|zinc ion binding 0 all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.149) CAGGATGAgccggcggcggcggc 0.635 4 8 --- --- --- ---