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 PRDM16 63976 broad.mit.edu 37 1 3319418 3319418 + Missense_Mutation SNP G T T TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr1:3319418G>T uc001akf.2 + 6 820 c.740G>T c.(739-741)CGC>CTC p.R247L PRDM16_uc001akc.2_Missense_Mutation_p.R247L|PRDM16_uc001akd.2_Missense_Mutation_p.R247L|PRDM16_uc001ake.2_Missense_Mutation_p.R247L|PRDM16_uc009vlh.2_5'UTR NM_022114 NP_071397 Q9HAZ2 PRD16_HUMAN PR domain containing 16 isoform 1 247 C2H2-type 1; atypical. brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 7 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) GACCTGCGGCGCCATAAGAAG 0.637 T EVI1 MDS|AML 35 61 --- --- --- --- PASS CCDC27 148870 broad.mit.edu 37 1 3672112 3672112 + Silent SNP C A A TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr1:3672112C>A uc001akv.2 + 3 615 c.534C>A c.(532-534)GGC>GGA p.G178G NM_152492 NP_689705 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 178 skin(1) 1 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) CCAGGCGGGGCTCAGACACGA 0.632 45 237 --- --- --- --- PASS MTOR 2475 broad.mit.edu 37 1 11259718 11259718 + Silent SNP C G G rs145404035 TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr1:11259718C>G uc001asd.2 - 27 4108 c.3987G>C c.(3985-3987)CTG>CTC p.L1329L NM_004958 NP_004949 P42345 MTOR_HUMAN FK506 binding protein 12-rapamycin associated 1329 cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2) 29 GATCTTCATTCAGTTCAGACC 0.507 41 121 --- --- --- --- PASS UBR4 23352 broad.mit.edu 37 1 19501466 19501466 + Silent SNP C T T TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr1:19501466C>T uc001bbi.2 - 21 2839 c.2835G>A c.(2833-2835)TTG>TTA p.L945L UBR4_uc001bbm.1_Silent_p.L156L NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 945 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) CAAGTCGGTTCAAATCATCCT 0.438 6 144 --- --- --- --- PASS UBR4 23352 broad.mit.edu 37 1 19501471 19501471 + Missense_Mutation SNP C T T TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr1:19501471C>T uc001bbi.2 - 21 2834 c.2830G>A c.(2830-2832)GAT>AAT p.D944N UBR4_uc001bbm.1_Missense_Mutation_p.D155N NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 944 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) CGGTTCAAATCATCCTCTGAG 0.433 6 146 --- --- --- --- PASS DDOST 1650 broad.mit.edu 37 1 20979440 20979440 + Missense_Mutation SNP G T T TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr1:20979440G>T uc001bdo.1 - 9 1161 c.1018C>A c.(1018-1020)CTC>ATC p.L340I DDOST_uc009vpw.1_Missense_Mutation_p.L340I|DDOST_uc010odd.1_Missense_Mutation_p.L139I|DDOST_uc010ode.1_Missense_Mutation_p.L303I NM_005216 NP_005207 P39656 OST48_HUMAN dolichyl-diphosphooligosaccharide-protein 340 Lumenal (Potential). innate immune response|post-translational protein modification|response to cytokine stimulus|T cell activation integral to membrane|microsome|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding 0 all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CCATTTGAGAGCTGCTGGATC 0.522 4 125 --- --- --- --- PASS COL16A1 1307 broad.mit.edu 37 1 32167759 32167759 + Silent SNP G A A TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr1:32167759G>A uc001btk.1 - 2 401 c.36C>T c.(34-36)CTC>CTT p.L12L COL16A1_uc001btl.3_Silent_p.L12L NM_001856 NP_001847 Q07092 COGA1_HUMAN alpha 1 type XVI collagen precursor 12 cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity ovary(8) 8 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) CCCAAAGACCGAGCAGCCACA 0.587 7 57 --- --- --- --- PASS CSMD2 114784 broad.mit.edu 37 1 34190222 34190222 + Missense_Mutation SNP C A A TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr1:34190222C>A uc001bxn.1 - 18 2688 c.2659G>T c.(2659-2661)GCG>TCG p.A887S CSMD2_uc001bxm.1_Missense_Mutation_p.A927S NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 887 Sushi 5.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GTCACCAGCGCGCCCACGTAG 0.567 40 58 --- --- --- --- PASS CLCA1 1179 broad.mit.edu 37 1 86964384 86964384 + Missense_Mutation SNP C A A TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr1:86964384C>A uc001dlt.2 + 13 2372 c.2243C>A c.(2242-2244)CCT>CAT p.P748H NM_001285 NP_001276 A8K7I4 CLCA1_HUMAN chloride channel accessory 1 precursor 748 calcium ion transport extracellular space|integral to plasma membrane chloride channel activity ovary(1) 1 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) GCTCCCATACCTGATCTCTTC 0.483 54 105 --- --- --- --- PASS GFI1 2672 broad.mit.edu 37 1 92941667 92941667 + Missense_Mutation SNP G T T TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr1:92941667G>T uc001dou.3 - 7 1352 c.1188C>A c.(1186-1188)TTC>TTA p.F396L GFI1_uc001dov.3_Missense_Mutation_p.F396L|GFI1_uc001dow.3_Missense_Mutation_p.F396L NM_001127215 NP_001120687 Q99684 GFI1_HUMAN growth factor independent 1 396 C2H2-type 6. negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding large_intestine(1) 1 all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203) OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191) GGTCGCAGCCGAAGGGCTTGA 0.607 13 18 --- --- --- --- PASS HORMAD1 84072 broad.mit.edu 37 1 150689735 150689735 + Missense_Mutation SNP C G G TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr1:150689735C>G uc001evk.1 - 3 163 c.57G>C c.(55-57)AAG>AAC p.K19N HORMAD1_uc001evl.1_Missense_Mutation_p.K19N|HORMAD1_uc001evm.1_5'UTR NM_032132 NP_115508 Q86X24 HORM1_HUMAN HORMA domain containing 1 19 blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly chromosome|nucleus ovary(2)|central_nervous_system(1) 3 all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171) CAGTTGATATCTTATTGGGAA 0.343 6 293 --- --- --- --- PASS FCRL2 79368 broad.mit.edu 37 1 157740401 157740401 + Silent SNP C G G TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr1:157740401C>G uc001fre.2 - 3 167 c.108G>C c.(106-108)CTG>CTC p.L36L FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Silent_p.L36L|FCRL2_uc009wsp.2_Silent_p.L36L|FCRL2_uc010pia.1_Silent_p.L36L NM_030764 NP_110391 Q96LA5 FCRL2_HUMAN Fc receptor-like 2 precursor 36 Ig-like C2-type 1.|Extracellular (Potential). cell-cell signaling integral to membrane|plasma membrane|soluble fraction receptor activity|SH3/SH2 adaptor activity ovary(1)|pancreas(1) 2 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CCTGGCATTTCAGAACGATGC 0.438 5 139 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158597422 158597422 + Missense_Mutation SNP A G G TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr1:158597422A>G uc001fst.1 - 40 5856 c.5657T>C c.(5656-5658)CTA>CCA p.L1886P NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1886 Spectrin 18. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) CACCTTATTTAGGATGTCTTC 0.423 63 201 --- --- --- --- PASS PVRL4 81607 broad.mit.edu 37 1 161042609 161042609 + Missense_Mutation SNP C T T TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr1:161042609C>T uc001fxo.2 - 9 1674 c.1375G>A c.(1375-1377)GAA>AAA p.E459K ARHGAP30_uc001fxk.2_5'Flank|ARHGAP30_uc001fxl.2_5'Flank|ARHGAP30_uc001fxm.2_5'Flank|ARHGAP30_uc009wtx.2_5'Flank|ARHGAP30_uc001fxn.1_5'Flank|PVRL4_uc010pjy.1_Missense_Mutation_p.E113K|PVRL4_uc010pjz.1_Missense_Mutation_p.E168K NM_030916 NP_112178 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 precursor 459 Cytoplasmic (Potential). adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane ovary(2) 2 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) GACAGCAGTTCAGTCTGTGTT 0.562 25 53 --- --- --- --- PASS PAPPA2 60676 broad.mit.edu 37 1 176668640 176668640 + Missense_Mutation SNP G T T TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr1:176668640G>T uc001gkz.2 + 8 4315 c.3151G>T c.(3151-3153)GTG>TTG p.V1051L PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 1051 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 CTGCAGGCCTGTGAGGTACCA 0.552 71 189 --- --- --- --- PASS TPR 7175 broad.mit.edu 37 1 186321214 186321214 + Missense_Mutation SNP T A A TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr1:186321214T>A uc001grv.2 - 19 2660 c.2363A>T c.(2362-2364)AAG>ATG p.K788M NM_003292 NP_003283 P12270 TPR_HUMAN nuclear pore complex-associated protein TPR 788 Potential. carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1) 7 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) AAGCATTTCCTTTTCCTTCTT 0.318 T NTRK1 papillary thyroid 63 118 --- --- --- --- PASS F13B 2165 broad.mit.edu 37 1 197024901 197024901 + Missense_Mutation SNP C T T TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr1:197024901C>T uc001gtt.1 - 8 1342 c.1298G>A c.(1297-1299)GGA>GAA p.G433E NM_001994 NP_001985 P05160 F13B_HUMAN coagulation factor XIII B subunit precursor 433 Sushi 7. blood coagulation extracellular region upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 TATTTTTGATCCCCTCAGTAA 0.418 16 163 --- --- --- --- PASS LHX9 56956 broad.mit.edu 37 1 197896900 197896900 + Missense_Mutation SNP G T T TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr1:197896900G>T uc001guk.1 + 4 1350 c.913G>T c.(913-915)GGT>TGT p.G305C LHX9_uc001gui.1_Missense_Mutation_p.G296C|LHX9_uc001guj.1_Missense_Mutation_p.G311C NM_020204 NP_064589 Q9NQ69 LHX9_HUMAN LIM homeobox 9 isoform 1 305 Homeobox. motor axon guidance|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1) 1 CCAGAAAACAGGTCTGACCAA 0.478 34 104 --- --- --- --- PASS PIK3C2B 5287 broad.mit.edu 37 1 204403630 204403630 + Missense_Mutation SNP T C C TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr1:204403630T>C uc001haw.2 - 25 4102 c.3623A>G c.(3622-3624)CAC>CGC p.H1208R PIK3C2B_uc010pqv.1_Missense_Mutation_p.H1180R NM_002646 NP_002637 O00750 P3C2B_HUMAN phosphoinositide-3-kinase, class 2 beta 1208 PI3K/PI4K. cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1) 7 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) GTGGAACATGTGACCAGTGGT 0.517 26 39 --- --- --- --- PASS PCNXL2 80003 broad.mit.edu 37 1 233296087 233296087 + Nonsense_Mutation SNP C T T TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr1:233296087C>T uc001hvl.2 - 19 3694 c.3459G>A c.(3457-3459)TGG>TGA p.W1153* PCNXL2_uc001hvm.1_RNA|PCNXL2_uc009xfu.2_RNA|PCNXL2_uc001hvp.1_RNA|PCNXL2_uc009xfv.1_RNA NM_014801 NP_055616 A6NKB5 PCX2_HUMAN pecanex-like 2 1153 integral to membrane central_nervous_system(1)|pancreas(1) 2 all_cancers(173;0.0347)|Prostate(94;0.137) AAATCCACATCCAGGGATGAT 0.453 29 110 --- --- --- --- PASS PCNXL2 80003 broad.mit.edu 37 1 233296088 233296088 + Missense_Mutation SNP C A A TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr1:233296088C>A uc001hvl.2 - 19 3693 c.3458G>T c.(3457-3459)TGG>TTG p.W1153L PCNXL2_uc001hvm.1_RNA|PCNXL2_uc009xfu.2_RNA|PCNXL2_uc001hvp.1_RNA|PCNXL2_uc009xfv.1_RNA NM_014801 NP_055616 A6NKB5 PCX2_HUMAN pecanex-like 2 1153 integral to membrane central_nervous_system(1)|pancreas(1) 2 all_cancers(173;0.0347)|Prostate(94;0.137) AATCCACATCCAGGGATGATG 0.448 29 111 --- --- --- --- PASS C1orf150 148823 broad.mit.edu 37 1 247712512 247712512 + Silent SNP C A A TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr1:247712512C>A uc001idf.2 + 1 64 c.19C>A c.(19-21)CGA>AGA p.R7R C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_RNA|C1orf150_uc001idb.3_RNA|C1orf150_uc009xgx.2_Intron NM_145278 NP_660321 Q5JQS6 CA150_HUMAN hypothetical protein LOC148823 7 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0241) TTATCTCCTGCGAAAACTCAG 0.468 38 82 --- --- --- --- PASS VRK2 7444 broad.mit.edu 37 2 58366799 58366799 + Splice_Site SNP A T T TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr2:58366799A>T uc002rzo.2 + 14 1602 c.857_splice c.e14-2 p.C286_splice VRK2_uc010fcb.2_Splice_Site_p.C286_splice|VRK2_uc002rzs.2_Splice_Site_p.C286_splice|VRK2_uc002rzr.2_Splice_Site_p.C286_splice|VRK2_uc010fcc.2_Splice_Site_p.C168_splice|VRK2_uc002rzv.2_Splice_Site_p.C286_splice|VRK2_uc010fcd.2_Splice_Site_p.C263_splice|VRK2_uc002rzp.2_Splice_Site_p.C286_splice|VRK2_uc010ypg.1_Splice_Site_p.C286_splice|VRK2_uc002rzq.2_Splice_Site_p.C286_splice|VRK2_uc002rzu.2_Splice_Site_p.C286_splice|VRK2_uc002rzt.2_Splice_Site_p.C168_splice NM_001130482 NP_001123954 Q86Y07 VRK2_HUMAN vaccinia related kinase 2 isoform 2 integral to membrane ATP binding|protein binding|protein serine/threonine kinase activity ovary(1) 1 AATAATTCACAGGTGAAATAG 0.318 23 88 --- --- --- --- PASS USP34 9736 broad.mit.edu 37 2 61576402 61576402 + Missense_Mutation SNP C G G TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr2:61576402C>G uc002sbe.2 - 13 1548 c.1526G>C c.(1525-1527)AGA>ACA p.R509T NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN ubiquitin specific protease 34 509 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) TGGAGCTGTTCTTCTAAGCTC 0.348 4 143 --- --- --- --- PASS SPR 6697 broad.mit.edu 37 2 73118540 73118540 + Silent SNP A G G TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr2:73118540A>G uc002sik.2 + 3 710 c.660A>G c.(658-660)AAA>AAG p.K220K NM_003124 NP_003115 P35270 SPRE_HUMAN sepiapterin reductase 220 nitric oxide biosynthetic process|tetrahydrobiopterin biosynthetic process cytoplasm aldo-keto reductase (NADP) activity|NADP binding|sepiapterin reductase activity ovary(2) 2 ACATGCGAAAAGGGCTGCAGG 0.557 3 131 --- --- --- --- PASS VWA3B 200403 broad.mit.edu 37 2 98853155 98853155 + Missense_Mutation SNP G T T TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr2:98853155G>T uc002syo.2 + 19 2899 c.2635G>T c.(2635-2637)GTC>TTC p.V879F VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_Missense_Mutation_p.V398F|VWA3B_uc002sym.2_Missense_Mutation_p.V879F|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Missense_Mutation_p.V536F|VWA3B_uc002syp.1_Missense_Mutation_p.V271F|VWA3B_uc002syq.1_Missense_Mutation_p.V155F|VWA3B_uc002syr.1_Missense_Mutation_p.V196F|VWA3B_uc010fih.1_RNA NM_144992 NP_659429 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 879 ovary(3)|large_intestine(2)|skin(1) 6 CTATGTTCCCGTCCTGGACAA 0.478 66 165 --- --- --- --- PASS SLC35F5 80255 broad.mit.edu 37 2 114483083 114483083 + Silent SNP T C C TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr2:114483083T>C uc002tku.1 - 12 1546 c.1122A>G c.(1120-1122)TTA>TTG p.L374L SLC35F5_uc002tkt.2_RNA NM_025181 NP_079457 Q8WV83 S35F5_HUMAN solute carrier family 35, member F5 374 Poly-Leu.|Helical; (Potential). transport integral to membrane 0 AACCTGGCCATAAGAGCAGCA 0.308 44 85 --- --- --- --- PASS MBD5 55777 broad.mit.edu 37 2 149226468 149226468 + Missense_Mutation SNP C G G TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr2:149226468C>G uc002twm.3 + 9 1944 c.956C>G c.(955-957)ACT>AGT p.T319S MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Missense_Mutation_p.T319S|MBD5_uc002twn.1_5'Flank NM_018328 NP_060798 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 319 chromosome|nucleus chromatin binding|DNA binding skin(3)|ovary(2) 5 BRCA - Breast invasive adenocarcinoma(221;0.0569) AATTTTTCAACTAATATGGAA 0.443 6 159 --- --- --- --- PASS MBD5 55777 broad.mit.edu 37 2 149226481 149226481 + Missense_Mutation SNP A G G TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr2:149226481A>G uc002twm.3 + 9 1957 c.969A>G c.(967-969)ATA>ATG p.I323M MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Missense_Mutation_p.I323M|MBD5_uc002twn.1_5'Flank NM_018328 NP_060798 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 323 chromosome|nucleus chromatin binding|DNA binding skin(3)|ovary(2) 5 BRCA - Breast invasive adenocarcinoma(221;0.0569) ATATGGAAATACCACGAGCAA 0.433 6 146 --- --- --- --- PASS ABCB11 8647 broad.mit.edu 37 2 169781299 169781299 + Missense_Mutation SNP G C C TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr2:169781299G>C uc002ueo.1 - 27 3759 c.3633C>G c.(3631-3633)AAC>AAG p.N1211K ABCB11_uc010zda.1_Missense_Mutation_p.N629K|ABCB11_uc010zdb.1_Missense_Mutation_p.N687K NM_003742 NP_003733 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), 1211 Cytoplasmic (Potential).|ABC transporter 2. bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism ovary(2)|large_intestine(2)|breast(1) 5 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) GGGACCCAACGTTAGTTTCAT 0.413 48 144 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179395669 179395669 + Missense_Mutation SNP C T T TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr2:179395669C>T uc010zfg.1 - 307 98193 c.97969G>A c.(97969-97971)GAA>AAA p.E32657K uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E26352K|TTN_uc010zfi.1_Missense_Mutation_p.E26285K|TTN_uc010zfj.1_Missense_Mutation_p.E26160K|TTN_uc002umq.2_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 33584 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACAGCCTTTTCAGTTACCCTG 0.488 8 441 --- --- --- --- PASS RFTN2 130132 broad.mit.edu 37 2 198498484 198498484 + Missense_Mutation SNP G T T TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr2:198498484G>T uc002uuo.3 - 4 1078 c.676C>A c.(676-678)CAA>AAA p.Q226K NM_144629 NP_653230 Q52LD8 RFTN2_HUMAN raftlin family member 2 226 plasma membrane 0 CTGCCATTTTGTTCCATTTGA 0.363 56 225 --- --- --- --- PASS AGAP1 116987 broad.mit.edu 37 2 236653377 236653377 + Silent SNP C T T TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr2:236653377C>T uc002vvs.2 + 5 1027 c.432C>T c.(430-432)TTC>TTT p.F144F AGAP1_uc002vvt.2_Silent_p.F144F NM_001037131 NP_001032208 Q9UPQ3 AGAP1_HUMAN centaurin, gamma 2 isoform 1 144 Small GTPase-like. protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding ovary(2)|skin(1) 3 TATTTGTCTTCAGCTTGGAGG 0.488 9 206 --- --- --- --- PASS AGAP1 116987 broad.mit.edu 37 2 236653401 236653401 + Missense_Mutation SNP C G G TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr2:236653401C>G uc002vvs.2 + 5 1051 c.456C>G c.(454-456)TTC>TTG p.F152L AGAP1_uc002vvt.2_Missense_Mutation_p.F152L NM_001037131 NP_001032208 Q9UPQ3 AGAP1_HUMAN centaurin, gamma 2 isoform 1 152 Small GTPase-like. protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding ovary(2)|skin(1) 3 AAATAAGTTTCCAGACCGTTT 0.507 7 163 --- --- --- --- PASS SLC6A11 6538 broad.mit.edu 37 3 10861396 10861396 + Splice_Site SNP G T T TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr3:10861396G>T uc003bvz.2 + 3 426 c.392_splice c.e3-1 p.G131_splice SLC6A11_uc003bvy.1_Splice_Site_p.G131_splice NM_014229 NP_055044 P48066 S6A11_HUMAN solute carrier family 6 (neurotransmitter neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity skin(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(96;0.229) TGTCCTTTCAGGCATTGGCTA 0.408 96 178 --- --- --- --- PASS SLC6A11 6538 broad.mit.edu 37 3 10861397 10861397 + Missense_Mutation SNP G T T TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr3:10861397G>T uc003bvz.2 + 3 426 c.392G>T c.(391-393)GGC>GTC p.G131V SLC6A11_uc003bvy.1_Missense_Mutation_p.G131V NM_014229 NP_055044 P48066 S6A11_HUMAN solute carrier family 6 (neurotransmitter 131 Helical; Name=3; (Potential). neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity skin(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(96;0.229) GTCCTTTCAGGCATTGGCTAT 0.403 97 176 --- --- --- --- PASS STAB1 23166 broad.mit.edu 37 3 52551041 52551041 + Missense_Mutation SNP C T T TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr3:52551041C>T uc003dej.2 + 42 4479 c.4405C>T c.(4405-4407)CAT>TAT p.H1469Y STAB1_uc003dek.1_5'Flank NM_015136 NP_055951 Q9NY15 STAB1_HUMAN stabilin 1 precursor 1469 Extracellular (Potential).|EGF-like 11. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 9 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) CTGCTCCCCTCATGCCAACTG 0.677 4 93 --- --- --- --- PASS C3orf63 23272 broad.mit.edu 37 3 56675432 56675432 + Missense_Mutation SNP G A A TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr3:56675432G>A uc003did.3 - 15 2665 c.2564C>T c.(2563-2565)TCT>TTT p.S855F C3orf63_uc003dic.3_Missense_Mutation_p.S459F|C3orf63_uc003die.3_Missense_Mutation_p.S855F NM_015224 NP_056039 Q9UK61 CC063_HUMAN retinoblastoma-associated protein 140 isoform b 855 ovary(3)|kidney(1)|central_nervous_system(1) 5 KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147) AATAGCAACAGAATACTTAGA 0.388 4 88 --- --- --- --- PASS LRIG1 26018 broad.mit.edu 37 3 66449460 66449460 + Missense_Mutation SNP A G G TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr3:66449460A>G uc003dmx.2 - 10 1180 c.1166T>C c.(1165-1167)CTG>CCG p.L389P LRIG1_uc011bfu.1_Missense_Mutation_p.L9P|LRIG1_uc003dmw.2_Missense_Mutation_p.L55P|LRIG1_uc010hnz.2_Intron|LRIG1_uc010hoa.2_Missense_Mutation_p.L413P NM_015541 NP_056356 Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like 389 Extracellular (Potential).|LRR 14. integral to membrane skin(3)|ovary(2) 5 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) GTTTCCAAACAGAGTCCTGTA 0.473 20 23 --- --- --- --- PASS OR5K3 403277 broad.mit.edu 37 3 98109948 98109948 + Missense_Mutation SNP G C C TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr3:98109948G>C uc011bgw.1 + 1 439 c.439G>C c.(439-441)GGA>CGA p.G147R NM_001005516 NP_001005516 A6NET4 OR5K3_HUMAN olfactory receptor, family 5, subfamily K, 147 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GATGACTGCAGGAGCCTACCT 0.468 60 306 --- --- --- --- PASS OR5K3 403277 broad.mit.edu 37 3 98109949 98109949 + Missense_Mutation SNP G T T TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr3:98109949G>T uc011bgw.1 + 1 440 c.440G>T c.(439-441)GGA>GTA p.G147V NM_001005516 NP_001005516 A6NET4 OR5K3_HUMAN olfactory receptor, family 5, subfamily K, 147 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 ATGACTGCAGGAGCCTACCTA 0.468 64 301 --- --- --- --- PASS MED12L 116931 broad.mit.edu 37 3 151067921 151067921 + Silent SNP A G G TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr3:151067921A>G uc003eyp.2 + 15 2258 c.2220A>G c.(2218-2220)GCA>GCG p.A740A MED12L_uc011bnz.1_Silent_p.A600A|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 740 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GTGATGAAGCAAGGCATCAGC 0.413 146 514 --- --- --- --- PASS ZNF718 255403 broad.mit.edu 37 4 155143 155143 + Missense_Mutation SNP G C C TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr4:155143G>C uc003fzt.3 + 8 801 c.668G>C c.(667-669)AGA>ACA p.R223T ZNF595_uc003fzu.1_Intron|ZNF718_uc010iaz.2_RNA|ZNF718_uc003fzw.3_Missense_Mutation_p.E3Q NM_001039127 NP_001034216 Q3SXZ3 ZN718_HUMAN zinc finger protein 718 223 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18) ATTCATGCCAGAGAGAAATTC 0.378 3 57 --- --- --- --- PASS GRSF1 2926 broad.mit.edu 37 4 71698085 71698085 + Silent SNP C T T TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr4:71698085C>T uc010iia.1 - 4 836 c.753G>A c.(751-753)GTG>GTA p.V251V GRSF1_uc011caz.1_Silent_p.V133V|GRSF1_uc003hfs.2_Silent_p.V89V NM_002092 NP_002083 Q12849 GRSF1_HUMAN G-rich RNA sequence binding factor 1 isoform 1 251 RRM 2. mRNA polyadenylation mRNA binding|nucleotide binding 0 all_hematologic(202;0.21) Lung(101;0.235) TCAAACGAACCACACCATCAT 0.393 18 87 --- --- --- --- PASS ADH1B 125 broad.mit.edu 37 4 100231999 100231999 + Silent SNP T C C TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr4:100231999T>C uc003hus.3 - 8 1110 c.1026A>G c.(1024-1026)TCA>TCG p.S342S ADH1A_uc011ceg.1_Intron|ADH1B_uc003hut.3_Silent_p.S302S|ADH1B_uc011ceh.1_Silent_p.S187S|ADH1B_uc011cei.1_Silent_p.S302S NM_000668 NP_000659 P00325 ADH1B_HUMAN class I alcohol dehydrogenase, beta subunit 342 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding ovary(1)|breast(1) 2 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) ACGCATCCAGTGAAAACTTCT 0.358 42 153 --- --- --- --- PASS ANKRD50 57182 broad.mit.edu 37 4 125591827 125591827 + Missense_Mutation SNP G T T TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr4:125591827G>T uc003ifg.3 - 3 2871 c.2605C>A c.(2605-2607)CAA>AAA p.Q869K ANKRD50_uc011cgo.1_Missense_Mutation_p.Q690K|ANKRD50_uc010inw.2_Missense_Mutation_p.Q869K NM_020337 NP_065070 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 869 ANK 12. central_nervous_system(1) 1 CTAGCACCTTGTTCAATAAGT 0.388 61 198 --- --- --- --- PASS SORBS2 8470 broad.mit.edu 37 4 186544783 186544783 + Silent SNP G A A TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr4:186544783G>A uc003iyl.2 - 13 2646 c.1788C>T c.(1786-1788)TCC>TCT p.S596S SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Silent_p.S696S|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Silent_p.S500S|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Silent_p.S710S|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron NM_021069 NP_066547 O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 isoform 2 596 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(1) 1 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) GGTCGCTGTCGGAAAACTCCA 0.582 19 65 --- --- --- --- PASS ADAMTS16 170690 broad.mit.edu 37 5 5303866 5303866 + Missense_Mutation SNP C T T TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr5:5303866C>T uc003jdl.2 + 20 3311 c.3173C>T c.(3172-3174)TCC>TTC p.S1058F ADAMTS16_uc003jdk.1_Missense_Mutation_p.S1058F NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 1058 TSP type-1 5. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 TGGCTGGTGTCCGCCTGGTCC 0.547 3 46 --- --- --- --- PASS ADAMTS12 81792 broad.mit.edu 37 5 33576688 33576688 + Missense_Mutation SNP G A A TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr5:33576688G>A uc003jia.1 - 19 3606 c.3443C>T c.(3442-3444)ACC>ATC p.T1148I ADAMTS12_uc010iuq.1_Missense_Mutation_p.T1063I NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 1148 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 TGGACCTTTGGTCAAGGTATT 0.473 HNSCC(64;0.19) 54 220 --- --- --- --- PASS C5orf42 65250 broad.mit.edu 37 5 37148352 37148352 + Missense_Mutation SNP T C C TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr5:37148352T>C uc011cpa.1 - 42 8461 c.8230A>G c.(8230-8232)ATT>GTT p.I2744V C5orf42_uc003jkp.1_RNA|C5orf42_uc011coy.1_Missense_Mutation_p.I1262V|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.I1837V NM_023073 NP_075561 E9PH94 E9PH94_HUMAN hypothetical protein LOC65250 2744 ovary(4)|breast(2)|skin(1) 7 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) GAGAATTCAATGTGATCCACT 0.343 56 83 --- --- --- --- PASS FGF10 2255 broad.mit.edu 37 5 44305140 44305140 + Missense_Mutation SNP T A A TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr5:44305140T>A uc003jog.1 - 3 584 c.584A>T c.(583-585)AAA>ATA p.K195I NM_004465 NP_004456 O15520 FGF10_HUMAN fibroblast growth factor 10 precursor 195 actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation cell surface|extracellular space|nucleus|plasma membrane chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding lung(3) 3 Lung NSC(6;1.12e-06) AGAGGTGTTTTTCCTTCGTGT 0.438 25 386 --- --- --- --- PASS PPIP5K2 23262 broad.mit.edu 37 5 102472515 102472515 + Silent SNP C G G TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr5:102472515C>G uc003kod.3 + 4 909 c.390C>G c.(388-390)CTC>CTG p.L130L PPIP5K2_uc011cva.1_RNA|PPIP5K2_uc003koe.2_Silent_p.L130L|PPIP5K2_uc010jbo.1_Silent_p.L52L NM_015216 NP_056031 O43314 VIP2_HUMAN Histidine acid phosphatase domain containing 1 130 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity ovary(1)|skin(1) 2 TGCAGTATCTCATACAAGATA 0.279 5 255 --- --- --- --- PASS PRPF4B 8899 broad.mit.edu 37 6 4032677 4032677 + Missense_Mutation SNP C T T TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr6:4032677C>T uc003mvv.2 + 2 1017 c.926C>T c.(925-927)TCC>TTC p.S309F PRPF4B_uc011dhv.1_RNA NM_003913 NP_003904 Q13523 PRP4B_HUMAN serine/threonine-protein kinase PRP4K 309 Arg/Lys-rich (basic). catalytic step 2 spliceosome ATP binding|protein binding|protein serine/threonine kinase activity breast(5) 5 Ovarian(93;0.0925) all_hematologic(90;0.0895) AGGTCACGGTCCAAAGAGAGA 0.383 19 137 --- --- --- --- PASS DST 667 broad.mit.edu 37 6 56489989 56489989 + Missense_Mutation SNP C T T TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr6:56489989C>T uc003pdf.2 - 34 4725 c.4697G>A c.(4696-4698)AGA>AAA p.R1566K DST_uc003pcz.3_Missense_Mutation_p.R1388K|DST_uc011dxj.1_Missense_Mutation_p.R1417K|DST_uc011dxk.1_Missense_Mutation_p.R1428K|DST_uc003pcy.3_Missense_Mutation_p.R1062K|DST_uc003pdb.2_Missense_Mutation_p.R1062K|DST_uc003pdc.3_Missense_Mutation_p.R1062K|DST_uc003pdd.3_Missense_Mutation_p.R1062K NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 1388 Nuclear localization signal; in isoform 6 (By similarity). cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) ACTCTGCATTCTTCGGCGTTT 0.358 5 374 --- --- --- --- PASS MYO6 4646 broad.mit.edu 37 6 76540217 76540217 + Missense_Mutation SNP C A A TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr6:76540217C>A uc003pih.1 + 5 625 c.346C>A c.(346-348)CAA>AAA p.Q116K MYO6_uc003pig.1_Missense_Mutation_p.Q116K|MYO6_uc003pii.1_Missense_Mutation_p.Q116K NM_004999 NP_004990 Q9UM54 MYO6_HUMAN myosin VI 116 Myosin head-like. actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding kidney(1)|pancreas(1) 2 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) AAAGTCATATCAAGGAAAATC 0.308 4 161 --- --- --- --- PASS AIM1 202 broad.mit.edu 37 6 106978181 106978181 + Missense_Mutation SNP A T T TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr6:106978181A>T uc003prh.2 + 6 3972 c.3485A>T c.(3484-3486)CAT>CTT p.H1162L NM_001624 NP_001615 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 1162 Beta/gamma crystallin 'Greek key' 3. sugar binding breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1) 9 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) ATGAAAGTACATTGGGGCACG 0.348 44 188 --- --- --- --- PASS WISP3 8838 broad.mit.edu 37 6 112389555 112389555 + Missense_Mutation SNP T C C TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr6:112389555T>C uc003pvm.2 + 5 847 c.737T>C c.(736-738)CTG>CCG p.L246P WISP3_uc003pvn.2_RNA|WISP3_uc003pvo.2_Missense_Mutation_p.L264P NM_003880 NP_003871 O95389 WISP3_HUMAN WNT1 inducible signaling pathway protein 3 246 TSP type-1. cell-cell signaling|regulation of cell growth|signal transduction extracellular region|soluble fraction growth factor activity|insulin-like growth factor binding 0 all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246) GAGAAAAGACTGTGTTACATT 0.343 18 55 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152777171 152777171 + Silent SNP T C C TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr6:152777171T>C uc010kiw.2 - 23 3179 c.2577A>G c.(2575-2577)TTA>TTG p.L859L SYNE1_uc003qot.3_Silent_p.L866L|SYNE1_uc003qou.3_Silent_p.L859L|SYNE1_uc010kjb.1_Silent_p.L842L|SYNE1_uc003qow.2_Silent_p.L154L|SYNE1_uc003qox.1_Silent_p.L375L|SYNE1_uc003qoz.2_Silent_p.L291L|SYNE1_uc003qoy.2_Silent_p.L426L NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 859 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) CTTGACAAGCTAACAGTTCCT 0.358 HNSCC(10;0.0054) 30 139 --- --- --- --- PASS ETV1 2115 broad.mit.edu 37 7 13949273 13949273 + Silent SNP G C C TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr7:13949273G>C uc011jxq.1 - 11 1663 c.924C>G c.(922-924)GTC>GTG p.V308V ETV1_uc011jxn.1_Silent_p.V268V|ETV1_uc011jxo.1_Silent_p.V205V|ETV1_uc011jxp.1_Silent_p.V250V|ETV1_uc003ssw.3_Silent_p.V285V|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Silent_p.V290V|ETV1_uc011jxs.1_Silent_p.V290V|ETV1_uc010ktv.2_Missense_Mutation_p.S177C NM_004956 NP_004947 P50549 ETV1_HUMAN ets variant gene 1 isoform a 308 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TMPRSS2/ETV1(24)|EWSR1/ETV1(7) prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1) 35 ATTTTTCTGGGACAACACAGG 0.388 T EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3 Ewing sarcoma|prostate 14 227 --- --- --- --- PASS BMPER 168667 broad.mit.edu 37 7 34094781 34094781 + Missense_Mutation SNP A G G TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr7:34094781A>G uc011kap.1 + 9 907 c.793A>G c.(793-795)ACT>GCT p.T265A NM_133468 NP_597725 Q8N8U9 BMPER_HUMAN BMP-binding endothelial regulator precursor 265 VWFC 4. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space ovary(2)|central_nervous_system(1) 3 CCAGGACTCTACTGTGGTTTG 0.498 51 180 --- --- --- --- PASS SAMD9L 219285 broad.mit.edu 37 7 92764414 92764414 + Missense_Mutation SNP C T T TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr7:92764414C>T uc003umh.1 - 5 2087 c.871G>A c.(871-873)GAA>AAA p.E291K SAMD9L_uc003umj.1_Missense_Mutation_p.E291K|SAMD9L_uc003umi.1_Missense_Mutation_p.E291K|SAMD9L_uc010lfb.1_Missense_Mutation_p.E291K|SAMD9L_uc003umk.1_Missense_Mutation_p.E291K|SAMD9L_uc010lfc.1_Missense_Mutation_p.E291K|SAMD9L_uc010lfd.1_Missense_Mutation_p.E291K|SAMD9L_uc011khx.1_Intron NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 291 ovary(4) 4 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) AGAAGGACTTCCACAAACCTT 0.363 7 350 --- --- --- --- PASS FEZF1 389549 broad.mit.edu 37 7 121944169 121944169 + Missense_Mutation SNP G T T TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr7:121944169G>T uc003vkd.2 - 1 397 c.323C>A c.(322-324)GCG>GAG p.A108E FEZF1_uc003vkc.2_Missense_Mutation_p.A108E|uc010lko.1_RNA|uc003vkf.1_5'Flank NM_001024613 NP_001019784 A0PJY2 FEZF1_HUMAN FEZ family zinc finger 1 isoform 1 108 cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|breast(1) 3 CGAGGGCAccgccgcgggcgc 0.602 7 13 --- --- --- --- PASS CUL1 8454 broad.mit.edu 37 7 148457552 148457552 + Missense_Mutation SNP C A A TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr7:148457552C>A uc010lpg.2 + 7 1279 c.753C>A c.(751-753)TTC>TTA p.F251L CUL1_uc003wey.2_Missense_Mutation_p.F251L|CUL1_uc003wez.2_Missense_Mutation_p.F141L NM_003592 NP_003583 Q13616 CUL1_HUMAN cullin 1 251 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) GTACTGAATTCTTGCAGCAGA 0.348 6 326 --- --- --- --- PASS SSPO 23145 broad.mit.edu 37 7 149522435 149522435 + Missense_Mutation SNP G A A TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr7:149522435G>A uc010lpk.2 + 101 14062 c.14062G>A c.(14062-14064)GAC>AAC p.D4688N SSPO_uc010lpm.1_RNA|SSPO_uc003wgg.2_RNA|SSPO_uc003wgh.2_RNA|SSPO_uc003wgi.1_RNA NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 4688 TIL 6. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CAGCTGTGCCGACCTCTGGGA 0.622 30 102 --- --- --- --- PASS REPIN1 29803 broad.mit.edu 37 7 150069612 150069612 + Nonsense_Mutation SNP G T T TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr7:150069612G>T uc010lpq.1 + 4 1771 c.1282G>T c.(1282-1284)GAG>TAG p.E428* REPIN1_uc003whd.2_Nonsense_Mutation_p.E417*|REPIN1_uc010lpr.1_Nonsense_Mutation_p.E485*|REPIN1_uc003whc.2_Nonsense_Mutation_p.E428*|REPIN1_uc003whe.2_Nonsense_Mutation_p.E428* NM_013400 NP_037532 Q9BWE0 REPI1_HUMAN replication initiator 1 isoform 1 428 DNA replication nuclear origin of replication recognition complex DNA binding|zinc ion binding pancreas(1) 1 Ovarian(565;0.183)|Melanoma(164;0.226) OV - Ovarian serous cystadenocarcinoma(82;0.011) GCACTCCGGCGAGCGGCCCTT 0.731 7 9 --- --- --- --- PASS RNF32 140545 broad.mit.edu 37 7 156469341 156469341 + Missense_Mutation SNP G C C TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr7:156469341G>C uc003wmo.2 + 9 1263 c.1081G>C c.(1081-1083)GAA>CAA p.E361Q RNF32_uc010lqm.2_Missense_Mutation_p.E361Q|RNF32_uc003wmq.2_3'UTR|RNF32_uc003wmr.2_Missense_Mutation_p.E361Q|RNF32_uc003wmu.2_RNA NM_030936 NP_112198 Q9H0A6 RNF32_HUMAN ring finger protein 32 361 aggresome|endosome protein binding|zinc ion binding 0 Ovarian(565;0.218) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00291) UCEC - Uterine corpus endometrioid carcinoma (81;0.169) GAAGATTCTTGAATGTTGAAT 0.453 3 91 --- --- --- --- PASS MYBL1 4603 broad.mit.edu 37 8 67488371 67488371 + Silent SNP G C C TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr8:67488371G>C uc003xwj.2 - 10 1748 c.1341C>G c.(1339-1341)CTC>CTG p.L447L MYBL1_uc003xwl.2_Silent_p.L447L|MYBL1_uc003xwk.2_Silent_p.L446L NM_001080416 NP_001073885 P10243 MYBA_HUMAN v-myb myeloblastosis viral oncogene homolog 447 Negative regulatory domain (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2)|pancreas(1) 3 Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938) TCTTCTTTCTGAGGATGGCTG 0.448 22 191 --- --- --- --- PASS MMP16 4325 broad.mit.edu 37 8 89068417 89068417 + Missense_Mutation SNP C A A TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr8:89068417C>A uc003yeb.3 - 8 1594 c.1312G>T c.(1312-1314)GGT>TGT p.G438C NM_005941 NP_005932 P51512 MMP16_HUMAN matrix metalloproteinase 16 isoform 1 438 Extracellular (Potential). collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1) 8 GAATCAATACCATGAGGGGGA 0.418 73 145 --- --- --- --- PASS MMP16 4325 broad.mit.edu 37 8 89198754 89198754 + Nonsense_Mutation SNP G A A TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr8:89198754G>A uc003yeb.3 - 3 637 c.355C>T c.(355-357)CGA>TGA p.R119* MMP16_uc003yec.2_Nonsense_Mutation_p.R119* NM_005941 NP_005932 P51512 MMP16_HUMAN matrix metalloproteinase 16 isoform 1 119 collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1) 8 AATGCATATCGCTTTCGACGA 0.393 15 601 --- --- --- --- PASS SLC26A7 115111 broad.mit.edu 37 8 92378924 92378924 + Missense_Mutation SNP G T T TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr8:92378924G>T uc003yex.2 + 15 1883 c.1605G>T c.(1603-1605)CAG>CAT p.Q535H SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Missense_Mutation_p.Q535H|SLC26A7_uc003yfa.2_Missense_Mutation_p.Q535H NM_052832 NP_439897 Q8TE54 S26A7_HUMAN solute carrier family 26, member 7 isoform a 535 STAS.|Cytoplasmic (Potential). basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(11;0.00802) CCTGTAATCAGCCACTTGATG 0.308 103 201 --- --- --- --- PASS RNF19A 25897 broad.mit.edu 37 8 101270912 101270912 + Missense_Mutation SNP C T T TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr8:101270912C>T uc003yjj.1 - 11 2706 c.2389G>A c.(2389-2391)GAA>AAA p.E797K RNF19A_uc003yjk.1_Missense_Mutation_p.E797K NM_015435 NP_056250 Q9NV58 RN19A_HUMAN ring finger protein 19 797 Interaction with CASR. microtubule cytoskeleton organization|protein modification process centrosome|integral to membrane ligase activity|transcription factor binding|zinc ion binding ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166) Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525) CCATGTTCTTCAGCAATATGA 0.363 15 246 --- --- --- --- PASS PABPC1 26986 broad.mit.edu 37 8 101721391 101721391 + Missense_Mutation SNP G A A TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr8:101721391G>A uc003yjs.1 - 9 1810 c.1306C>T c.(1306-1308)CGC>TGC p.R436C PABPC1_uc011lhc.1_Missense_Mutation_p.R404C|PABPC1_uc011lhd.1_Missense_Mutation_p.R391C|PABPC1_uc003yjt.1_Missense_Mutation_p.R433C|PABPC1_uc003yju.2_RNA NM_002568 NP_002559 P11940 PABP1_HUMAN poly(A) binding protein, cytoplasmic 1 436 mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation catalytic step 2 spliceosome|cytosol nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity 0 all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206) GCAGTCCAGCGAGGACTTGGT 0.418 8 390 --- --- --- --- PASS SCRIB 23513 broad.mit.edu 37 8 144885849 144885849 + Missense_Mutation SNP C T T TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr8:144885849C>T uc003yzp.1 - 23 3389 c.3382G>A c.(3382-3384)GAC>AAC p.D1128N SCRIB_uc003yzn.1_5'UTR|SCRIB_uc003yzo.1_Missense_Mutation_p.D1128N NM_015356 NP_056171 Q14160 SCRIB_HUMAN scribble isoform b 1128 PDZ 4.|Interaction with ARHGEF7. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1) 5 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) TCTGTGGGGTCGCGGGGGTTG 0.701 11 9 --- --- --- --- PASS TRPM6 140803 broad.mit.edu 37 9 77422954 77422954 + Missense_Mutation SNP T C C TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr9:77422954T>C uc004ajl.1 - 14 1872 c.1634A>G c.(1633-1635)TAC>TGC p.Y545C TRPM6_uc004ajk.1_Missense_Mutation_p.Y540C|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.Y545C|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 545 Cytoplasmic (Potential). response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 8 CTCTACCTTGTATTTTCTGTA 0.368 10 287 --- --- --- --- PASS PRUNE2 158471 broad.mit.edu 37 9 79321922 79321922 + Missense_Mutation SNP G C C TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr9:79321922G>C uc010mpk.2 - 8 5392 c.5268C>G c.(5266-5268)TTC>TTG p.F1756L PRUNE2_uc004akj.3_5'Flank|PRUNE2_uc010mpl.1_5'Flank NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 1756 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 GATTGTCACAGAATGGGTTTG 0.428 5 137 --- --- --- --- PASS IARS 3376 broad.mit.edu 37 9 94991310 94991310 + Missense_Mutation SNP C G G TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr9:94991310C>G uc004art.1 - 31 3639 c.3382G>C c.(3382-3384)GAG>CAG p.E1128Q IARS_uc004ars.1_Intron|IARS_uc004aru.3_Missense_Mutation_p.E1128Q|IARS_uc010mqr.2_Missense_Mutation_p.E1018Q|IARS_uc010mqt.2_Missense_Mutation_p.E351Q NM_013417 NP_038203 P41252 SYIC_HUMAN isoleucine tRNA synthetase 1128 isoleucyl-tRNA aminoacylation cytosol|nucleus|soluble fraction ATP binding|isoleucine-tRNA ligase activity|protein binding ovary(1)|skin(1) 2 L-Isoleucine(DB00167) ACAGCCAGCTCTGTATTTTTC 0.428 17 319 --- --- --- --- PASS PALM2-AKAP2 445815 broad.mit.edu 37 9 112898755 112898755 + Nonsense_Mutation SNP G T T TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr9:112898755G>T uc004bei.2 + 9 1819 c.1627G>T c.(1627-1629)GAG>TAG p.E543* PALM2-AKAP2_uc004bek.3_Nonsense_Mutation_p.E311*|PALM2-AKAP2_uc004bej.3_Nonsense_Mutation_p.E311*|PALM2-AKAP2_uc004bel.1_Nonsense_Mutation_p.E121*|AKAP2_uc011lwi.1_Nonsense_Mutation_p.E169*|AKAP2_uc004bem.2_Nonsense_Mutation_p.E169*|PALM2-AKAP2_uc010mtw.1_Nonsense_Mutation_p.E129*|AKAP2_uc011lwj.1_Nonsense_Mutation_p.E80*|PALM2-AKAP2_uc004ben.2_Nonsense_Mutation_p.E80* NM_001136562 NP_001130034 Q9Y2D5 AKAP2_HUMAN A kinase (PRKA) anchor protein 2 isoform 2 80 enzyme binding ovary(3)|central_nervous_system(2)|skin(1) 6 ATCCTCCCCAGAGCCTGGTGC 0.577 70 150 --- --- --- --- PASS COBRA1 25920 broad.mit.edu 37 9 140150833 140150833 + Missense_Mutation SNP C T T TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr9:140150833C>T uc004cmm.3 + 3 522 c.319C>T c.(319-321)CCG>TCG p.P107S NM_015456 NP_056271 Q8WX92 NELFB_HUMAN cofactor of BRCA1 107 negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction cytoplasm|nucleoplasm protein binding 0 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.137) OV - Ovarian serous cystadenocarcinoma(145;9.42e-05)|Epithelial(140;0.000766) GGTGAAGATGCCGTCCCTGCA 0.572 4 115 --- --- --- --- PASS CUBN 8029 broad.mit.edu 37 10 17142197 17142197 + Missense_Mutation SNP C A A TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr10:17142197C>A uc001ioo.2 - 14 1624 c.1572G>T c.(1570-1572)ATG>ATT p.M524I NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 524 CUB 1. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GACAGTTGTCCATGGATTCTA 0.383 44 119 --- --- --- --- PASS ST8SIA6 338596 broad.mit.edu 37 10 17432598 17432598 + Silent SNP C A A TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr10:17432598C>A uc001ipd.2 - 3 222 c.222G>T c.(220-222)TCG>TCT p.S74S ST8SIA6_uc010qce.1_RNA|uc001ipe.2_Intron|uc001ipf.1_Intron NM_001004470 NP_001004470 P61647 SIA8F_HUMAN ST8 alpha-N-acetyl-neuraminide 74 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity ovary(1) 1 TCAGTTGGAGCGACTTCTCAT 0.308 73 270 --- --- --- --- PASS SLC39A12 221074 broad.mit.edu 37 10 18254544 18254544 + Missense_Mutation SNP A G G TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr10:18254544A>G uc001ipo.2 + 4 949 c.676A>G c.(676-678)AAC>GAC p.N226D SLC39A12_uc001ipn.2_Missense_Mutation_p.N226D|SLC39A12_uc001ipp.2_Missense_Mutation_p.N226D|SLC39A12_uc010qck.1_Missense_Mutation_p.N92D NM_001145195 NP_001138667 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), 226 Cytoplasmic (Potential). zinc ion transport integral to membrane metal ion transmembrane transporter activity ovary(1)|breast(1) 2 GGGACAAGGAAACTTGCCTTC 0.438 36 89 --- --- --- --- PASS ERCC6 2074 broad.mit.edu 37 10 50690811 50690811 + Missense_Mutation SNP T A A TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr10:50690811T>A uc001jhs.3 - 10 2245 c.2091A>T c.(2089-2091)TTA>TTT p.L697F ERCC6_uc010qgr.1_Missense_Mutation_p.L67F|ERCC6_uc001jhr.3_Missense_Mutation_p.L97F NM_000124 NP_000115 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent 697 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1) 16 GCAACGTGCCTAACTTTCCCG 0.483 Direct_reversal_of_damage|NER 39 136 --- --- --- --- PASS CHAT 1103 broad.mit.edu 37 10 50856640 50856640 + Missense_Mutation SNP C A A TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr10:50856640C>A uc001jhz.2 + 9 1522 c.1369C>A c.(1369-1371)CTG>ATG p.L457M CHAT_uc001jhv.1_Missense_Mutation_p.L339M|CHAT_uc001jhx.1_Missense_Mutation_p.L339M|CHAT_uc001jhy.1_Missense_Mutation_p.L339M|CHAT_uc001jia.2_Missense_Mutation_p.L339M|CHAT_uc010qgs.1_Missense_Mutation_p.L339M NM_020549 NP_065574 P28329 CLAT_HUMAN choline acetyltransferase isoform 2 457 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3) 3 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) CACTGAGCATCTGCTCAAGCA 0.582 17 34 --- --- --- --- PASS DLG5 9231 broad.mit.edu 37 10 79581516 79581516 + Missense_Mutation SNP T C C TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr10:79581516T>C uc001jzk.2 - 15 2796 c.2726A>G c.(2725-2727)GAC>GGC p.D909G DLG5_uc001jzi.2_5'Flank|DLG5_uc001jzj.2_Intron|DLG5_uc009xru.1_RNA|DLG5_uc001jzl.3_Missense_Mutation_p.D513G NM_004747 NP_004738 Q8TDM6 DLG5_HUMAN discs large homolog 5 909 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) GCCACGCACGTCCACCAGCCC 0.677 12 11 --- --- --- --- PASS GRID1 2894 broad.mit.edu 37 10 87628874 87628874 + Missense_Mutation SNP G A A TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr10:87628874G>A uc001kdl.1 - 6 945 c.844C>T c.(844-846)CGG>TGG p.R282W GRID1_uc009xsu.1_RNA NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 282 Extracellular (Potential). cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1) 10 L-Glutamic Acid(DB00142) AAGATTTGCCGGACCACGGTC 0.537 Multiple Myeloma(13;0.14) 12 243 --- --- --- --- PASS PTEN 5728 broad.mit.edu 37 10 89685287 89685287 + Missense_Mutation SNP A G G TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr10:89685287A>G uc001kfb.2 + 4 1213 c.182A>G c.(181-183)CAT>CGT p.H61R NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 61 Phosphatase tensin-type. H -> R (loss of phosphatase activity towards Ins(1,3,4,5)P4).|H -> D (in VATER). activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.H61R(6)|p.?(4)|p.R55fs*1(4)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.H61P(1)|p.H61L(1)|p.V54fs*29(1)|p.R55_L70>S(1)|p.F56fs*2(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) GATTCAAAGCATAAAAACCAT 0.259 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 10 26 --- --- --- --- PASS HBD 3045 broad.mit.edu 37 11 5255418 5255418 + Missense_Mutation SNP G T T TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr11:5255418G>T uc001maf.1 - 2 313 c.118C>A c.(118-120)CAG>AAG p.Q40K NM_000519 NP_000510 P02042 HBD_HUMAN delta globin 40 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity p.Q40H(1) ovary(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) AAGAACCTCTGGGTCCAAGGG 0.512 44 105 --- --- --- --- PASS AMPD3 272 broad.mit.edu 37 11 10483250 10483250 + Nonsense_Mutation SNP G T T TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr11:10483250G>T uc001mio.1 + 2 519 c.184G>T c.(184-186)GAG>TAG p.E62* AMPD3_uc010rbz.1_5'UTR|AMPD3_uc001min.1_Nonsense_Mutation_p.E71*|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfx.1_Nonsense_Mutation_p.E62*|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Nonsense_Mutation_p.E69*|AMPD3_uc009yfy.2_Nonsense_Mutation_p.E62* NM_001025389 NP_001020560 Q01432 AMPD3_HUMAN adenosine monophosphate deaminase 3 isoform 1B 62 AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding large_intestine(1)|ovary(1) 2 all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291) GCTGCAGAAGGAGCTGGCAGA 0.562 14 35 --- --- --- --- PASS ANO3 63982 broad.mit.edu 37 11 26568986 26568986 + Missense_Mutation SNP G C C TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr11:26568986G>C uc001mqt.3 + 12 1323 c.1178G>C c.(1177-1179)GGA>GCA p.G393A ANO3_uc010rdr.1_Missense_Mutation_p.G377A|ANO3_uc010rds.1_Missense_Mutation_p.G232A|ANO3_uc010rdt.1_Missense_Mutation_p.G247A NM_031418 NP_113606 Q9BYT9 ANO3_HUMAN transmembrane protein 16C 393 Cytoplasmic (Potential). chloride channel complex chloride channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 GAGAAGATTGGACTATACTTT 0.373 12 527 --- --- --- --- PASS OR10AG1 282770 broad.mit.edu 37 11 55735361 55735361 + Silent SNP T A A TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr11:55735361T>A uc010rit.1 - 1 579 c.579A>T c.(577-579)GTA>GTT p.V193V NM_001005491 NP_001005491 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, 193 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.0137) ACACCACCGCTACTACATGGA 0.393 34 96 --- --- --- --- PASS SLC43A3 29015 broad.mit.edu 37 11 57176681 57176681 + Silent SNP G T T TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr11:57176681G>T uc001nkg.2 - 13 1748 c.1338C>A c.(1336-1338)CTC>CTA p.L446L PRG2_uc001nke.2_Intron|SLC43A3_uc001nkh.2_Silent_p.L446L|SLC43A3_uc010rjr.1_Silent_p.L459L|SLC43A3_uc009yme.2_Silent_p.L446L|SLC43A3_uc001nki.2_Silent_p.L446L NM_014096 NP_054815 Q8NBI5 S43A3_HUMAN solute carrier family 43, member 3 446 Helical; (Potential). transmembrane transport integral to membrane central_nervous_system(1) 1 AGCCTTTGATGAGGGTGAAGA 0.572 7 241 --- --- --- --- PASS MALAT1 378938 broad.mit.edu 37 11 65268285 65268285 + RNA SNP G T T TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr11:65268285G>T uc010roh.1 + 1 c.3053G>T uc001ody.2_RNA|MALAT1_uc001odz.2_5'Flank NR_002819 Homo sapiens clone alpha1 mRNA sequence. 0 ACTTACTTATGGTAACCTTTT 0.443 4 96 --- --- --- --- PASS MTNR1B 4544 broad.mit.edu 37 11 92715227 92715227 + Missense_Mutation SNP G A A TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr11:92715227G>A uc001pdk.1 + 2 941 c.838G>A c.(838-840)GAA>AAA p.E280K NM_005959 NP_005950 P49286 MTR1B_HUMAN melatonin receptor 1B 280 Extracellular (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission integral to plasma membrane melatonin receptor activity ovary(1)|central_nervous_system(1) 2 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) Ramelteon(DB00980) CAACCCCCAAGAAATGGCTCC 0.507 22 390 --- --- --- --- PASS ALG9 79796 broad.mit.edu 37 11 111724408 111724408 + Missense_Mutation SNP G C C TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr11:111724408G>C uc001pmb.2 - 8 852 c.753C>G c.(751-753)TTC>TTG p.F251L ALG9_uc001ply.2_Missense_Mutation_p.F80L|ALG9_uc001plz.2_Missense_Mutation_p.F80L|ALG9_uc010rwm.1_Missense_Mutation_p.F251L|ALG9_uc010rwn.1_Missense_Mutation_p.F205L|ALG9_uc010rwo.1_Missense_Mutation_p.F79L|ALG9_uc009yyh.1_Missense_Mutation_p.F146L NM_001077690 NP_001071158 Q9H6U8 ALG9_HUMAN asparagine-linked glycosylation 9 protein 251 Helical; (Potential). dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,2-mannosyltransferase activity large_intestine(1)|ovary(1) 2 all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587) ACCAATGAAAGAAACTCTTCC 0.373 5 223 --- --- --- --- PASS ETS1 2113 broad.mit.edu 37 11 128360395 128360395 + Silent SNP G A A TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr11:128360395G>A uc010sbs.1 - 2 475 c.159C>T c.(157-159)TTC>TTT p.F53F ETS1_uc001qej.2_Silent_p.F97F|ETS1_uc009zch.2_Intron|ETS1_uc009zcg.2_Silent_p.F53F NM_005238 NP_005229 P14921 ETS1_HUMAN v-ets erythroblastosis virus E26 oncogene 53 PNT. cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter nucleus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding lung(4)|central_nervous_system(1)|pleura(1) 6 all_hematologic(175;0.0537) Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833) TGAAACCACTGAAAGTAGCTT 0.408 12 212 --- --- --- --- PASS BARX2 8538 broad.mit.edu 37 11 129321248 129321248 + Missense_Mutation SNP C A A rs146199848 byFrequency TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr11:129321248C>A uc001qfc.3 + 4 841 c.791C>A c.(790-792)CCG>CAG p.P264Q NM_003658 NP_003649 Q9UMQ3 BARX2_HUMAN BarH-like homeobox 2 264 0 all_hematologic(175;0.0749) Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253) CCACCAGACCCGCCCCAGGAG 0.567 32 80 --- --- --- --- PASS ADAMTS8 11095 broad.mit.edu 37 11 130286846 130286846 + Missense_Mutation SNP G A A TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr11:130286846G>A uc001qgg.3 - 3 1443 c.1085C>T c.(1084-1086)GCC>GTC p.A362V NM_007037 NP_008968 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 362 Peptidase M12B. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1) 1 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) TAGTTCATGGGCCAGGGTGTG 0.557 78 281 --- --- --- --- PASS CLEC4A 50856 broad.mit.edu 37 12 8290778 8290778 + Silent SNP C T T TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr12:8290778C>T uc001qtz.1 + 6 856 c.609C>T c.(607-609)TGC>TGT p.C203C CLEC4A_uc009zga.1_Silent_p.C164C|CLEC4A_uc001qub.1_Silent_p.C170C|CLEC4A_uc001quc.1_Silent_p.C131C|CLEC4A_uc009zgb.1_3'UTR NM_016184 NP_057268 Q9UMR7 CLC4A_HUMAN C-type lectin domain family 4, member A isoform 203 Extracellular (Potential).|C-type lectin. cell adhesion|cell surface receptor linked signaling pathway|innate immune response integral to plasma membrane sugar binding|transmembrane receptor activity 0 Kidney(36;0.0915) ATGAGCGCTGCGTTGTGCTAA 0.443 11 175 --- --- --- --- PASS PLEKHA5 54477 broad.mit.edu 37 12 19501339 19501339 + Missense_Mutation SNP G A A TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr12:19501339G>A uc001reb.2 + 19 2493 c.2407G>A c.(2407-2409)GAT>AAT p.D803N PLEKHA5_uc010sie.1_Missense_Mutation_p.D964N|PLEKHA5_uc001rea.2_Missense_Mutation_p.D861N|PLEKHA5_uc009zin.2_Missense_Mutation_p.D561N|PLEKHA5_uc010sif.1_Missense_Mutation_p.D792N|PLEKHA5_uc010sig.1_Missense_Mutation_p.D785N|PLEKHA5_uc010sih.1_Missense_Mutation_p.D758N|PLEKHA5_uc001rec.1_Missense_Mutation_p.D612N|PLEKHA5_uc009zio.2_Intron NM_019012 NP_061885 Q9HAU0 PKHA5_HUMAN pleckstrin homology domain containing, family A 803 1-phosphatidylinositol binding|protein binding ovary(1)|kidney(1)|skin(1) 3 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) CAAGGGTCCAGATTATAGACT 0.333 4 179 --- --- --- --- PASS TSPAN11 441631 broad.mit.edu 37 12 31135496 31135496 + Silent SNP C T T rs138636959 byFrequency TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr12:31135496C>T uc010sju.1 + 6 866 c.486C>T c.(484-486)GCC>GCT p.A162A TSPAN11_uc001rjp.2_Silent_p.A162A|TSPAN11_uc010sjv.1_Silent_p.A152A NM_001080509 NP_001073978 A1L157 TSN11_HUMAN tetraspanin 11 162 integral to membrane 0 all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) ACAGCTCAGCCGACTGGCAGC 0.657 4 46 --- --- --- --- PASS KIF21A 55605 broad.mit.edu 37 12 39756974 39756974 + Missense_Mutation SNP G C C TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr12:39756974G>C uc001rly.2 - 7 1091 c.945C>G c.(943-945)AGC>AGG p.S315R KIF21A_uc001rlx.2_Missense_Mutation_p.S315R|KIF21A_uc001rlz.2_Missense_Mutation_p.S315R|KIF21A_uc010skl.1_Missense_Mutation_p.S315R|KIF21A_uc001rma.1_Missense_Mutation_p.S323R NM_017641 NP_060111 Q7Z4S6 KI21A_HUMAN kinesin family member 21A 315 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(4)|pancreas(1)|lung(1)|skin(1) 7 Lung NSC(34;0.179)|all_lung(34;0.213) TGGCCCTCTTGCTCTTGTCTC 0.388 75 200 --- --- --- --- PASS ADAMTS20 80070 broad.mit.edu 37 12 43824238 43824238 + Missense_Mutation SNP C T T TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr12:43824238C>T uc010skx.1 - 23 3298 c.3298G>A c.(3298-3300)GAT>AAT p.D1100N ADAMTS20_uc001rno.1_Missense_Mutation_p.D254N|ADAMTS20_uc001rnp.1_Missense_Mutation_p.D254N NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 1100 TSP type-1 6. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CATTTAACATCTCGCATCTGA 0.388 13 69 --- --- --- --- PASS DGKA 1606 broad.mit.edu 37 12 56346885 56346885 + Missense_Mutation SNP C G G rs1395282 TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr12:56346885C>G uc001sij.2 + 22 2268 c.2004C>G c.(2002-2004)ATC>ATG p.I668M DGKA_uc001sik.2_Missense_Mutation_p.I668M|DGKA_uc001sil.2_Missense_Mutation_p.I668M|DGKA_uc001sim.2_Missense_Mutation_p.I668M|DGKA_uc001sin.2_Missense_Mutation_p.I668M|DGKA_uc009zof.2_Missense_Mutation_p.I314M|DGKA_uc001sio.2_Missense_Mutation_p.I410M NM_001345 NP_001336 P23743 DGKA_HUMAN diacylglycerol kinase, alpha 80kDa 668 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity ovary(3)|pancreas(1) 4 Vitamin E(DB00163) TGGGCCAAATCTATACCAAGC 0.522 11 133 --- --- --- --- PASS OXA1L 5018 broad.mit.edu 37 14 23240354 23240354 + Missense_Mutation SNP C A A TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr14:23240354C>A uc001wgn.2 + 8 1247 c.1247C>A c.(1246-1248)CCT>CAT p.P416H OXA1L_uc001wgo.2_RNA|OXA1L_uc010akc.2_Missense_Mutation_p.P416H|OXA1L_uc001wgp.2_Missense_Mutation_p.P340H|OXA1L_uc001wgq.2_Missense_Mutation_p.P120H NM_005015 NP_005006 Q15070 OXA1L_HUMAN oxidase (cytochrome c) assembly 1-like 356 Mitochondrial matrix (Potential). aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex protein homodimerization activity|ribosome binding central_nervous_system(1) 1 all_cancers(95;8.44e-05) GBM - Glioblastoma multiforme(265;0.0096) GACAAATTACCTCCACGGGAA 0.463 4 194 --- --- --- --- PASS HSPA2 3306 broad.mit.edu 37 14 65008837 65008837 + Missense_Mutation SNP C A A TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr14:65008837C>A uc001xhj.2 + 2 1346 c.1270C>A c.(1270-1272)CCC>ACC p.P424T HSPA2_uc001xhk.3_Missense_Mutation_p.P424T NM_021979 NP_068814 P54652 HSP72_HUMAN heat shock 70kDa protein 2 424 response to unfolded protein|spermatid development cell surface ATP binding|unfolded protein binding skin(1) 1 all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045) CACCACGATCCCCACCAAGCA 0.587 37 80 --- --- --- --- PASS MPP5 64398 broad.mit.edu 37 14 67746180 67746180 + Missense_Mutation SNP G A A TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr14:67746180G>A uc001xjc.2 + 3 759 c.293G>A c.(292-294)GGA>GAA p.G98E MPP5_uc001xjd.2_Missense_Mutation_p.G64E|MPP5_uc001xjb.1_Missense_Mutation_p.G98E NM_022474 NP_071919 Q8N3R9 MPP5_HUMAN membrane protein, palmitoylated 5 98 Interaction with PARD6B (By similarity). tight junction assembly cytoplasm|endomembrane system|tight junction protein domain specific binding ovary(1) 1 all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106) CCAAAGACCGGAATAGATAAC 0.378 6 212 --- --- --- --- PASS ADAM21 8747 broad.mit.edu 37 14 70925837 70925837 + Missense_Mutation SNP G T T TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr14:70925837G>T uc001xmd.2 + 1 1621 c.1621G>T c.(1621-1623)GGT>TGT p.G541C NM_003813 NP_003804 Q9UKJ8 ADA21_HUMAN ADAM metallopeptidase domain 21 preproprotein 541 Cys-rich.|Extracellular (Potential). proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding pancreas(1)|skin(1) 2 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) AAACCGTTTTGGTCACTGTGG 0.378 8 262 --- --- --- --- PASS ESRRB 2103 broad.mit.edu 37 14 76949083 76949083 + Silent SNP C A A TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr14:76949083C>A uc001xsq.1 + 5 835 c.768C>A c.(766-768)GGC>GGA p.G256G ESRRB_uc001xsr.2_Silent_p.G256G|ESRRB_uc001xso.2_RNA NM_004452 NP_004443 A2VDJ2 A2VDJ2_HUMAN estrogen-related receptor beta 256 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.0213) TCATCATTGGCTGGGCCAAGC 0.607 6 162 --- --- --- --- PASS GALC 2581 broad.mit.edu 37 14 88417033 88417033 + Silent SNP T C C TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr14:88417033T>C uc001xvt.2 - 11 1620 c.1221A>G c.(1219-1221)CAA>CAG p.Q407Q GALC_uc010tvw.1_RNA|GALC_uc010tvx.1_Silent_p.Q381Q|GALC_uc010tvy.1_Silent_p.Q384Q|GALC_uc010tvz.1_Silent_p.Q351Q NM_000153 NP_000144 P54803 GALC_HUMAN galactosylceramidase isoform a precursor 407 carbohydrate metabolic process|galactosylceramide catabolic process lysosome cation binding|galactosylceramidase activity 0 AGGTGGCAAATTGTTGTGACA 0.289 17 67 --- --- --- --- PASS HERC2 8924 broad.mit.edu 37 15 28518105 28518105 + Silent SNP G T T TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr15:28518105G>T uc001zbj.2 - 8 952 c.846C>A c.(844-846)CCC>CCA p.P282P HERC2_uc001zbl.1_5'UTR NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 282 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GGTCCTGCAGGGGGATGCTTC 0.602 15 115 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 33923440 33923440 + Missense_Mutation SNP C A A TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr15:33923440C>A uc001zhi.2 + 23 2883 c.2813C>A c.(2812-2814)GCT>GAT p.A938D RYR3_uc010bar.2_Missense_Mutation_p.A938D NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 938 4 X approximate repeats.|1.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TGCCACATTGCTCATGTTAAC 0.448 3 20 --- --- --- --- PASS ZNF280D 54816 broad.mit.edu 37 15 56981653 56981653 + Nonsense_Mutation SNP G T T TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr15:56981653G>T uc002adu.2 - 8 732 c.515C>A c.(514-516)TCA>TAA p.S172* ZNF280D_uc002adv.2_Nonsense_Mutation_p.S159*|ZNF280D_uc010bfq.2_Nonsense_Mutation_p.S172*|ZNF280D_uc002adw.1_Nonsense_Mutation_p.S200*|ZNF280D_uc010bfr.1_RNA NM_017661 NP_060131 Q6N043 Z280D_HUMAN suppressor of hairy wing homolog 4 isoform 1 172 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1)|skin(1) 3 all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787) TGATAAAAATGAACTTTCACT 0.274 8 47 --- --- --- --- PASS TBC1D21 161514 broad.mit.edu 37 15 74176528 74176528 + Missense_Mutation SNP G C C TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr15:74176528G>C uc002avz.2 + 4 392 c.309G>C c.(307-309)AAG>AAC p.K103N TBC1D21_uc010ulc.1_Missense_Mutation_p.K67N NM_153356 NP_699187 Q8IYX1 TBC21_HUMAN TBC1 domain family, member 21 103 Rab-GAP TBC. intracellular Rab GTPase activator activity ovary(2) 2 TGTATGAGAAGATTCAGCCCC 0.507 61 157 --- --- --- --- PASS ALPK3 57538 broad.mit.edu 37 15 85405926 85405926 + Missense_Mutation SNP G A A TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr15:85405926G>A uc002ble.2 + 10 4963 c.4796G>A c.(4795-4797)TGC>TAC p.C1599Y ALPK3_uc010upc.1_5'Flank NM_020778 NP_065829 Q96L96 ALPK3_HUMAN alpha-kinase 3 1599 Alpha-type protein kinase. heart development nucleus ATP binding|protein serine/threonine kinase activity stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1) 12 BRCA - Breast invasive adenocarcinoma(143;0.0587) GACTCTGGCTGCTGGGGGGAC 0.582 48 104 --- --- --- --- PASS ALPK3 57538 broad.mit.edu 37 15 85406841 85406841 + Missense_Mutation SNP G T T TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr15:85406841G>T uc002ble.2 + 11 5242 c.5075G>T c.(5074-5076)CGG>CTG p.R1692L ALPK3_uc010upc.1_5'Flank NM_020778 NP_065829 Q96L96 ALPK3_HUMAN alpha-kinase 3 1692 Alpha-type protein kinase. heart development nucleus ATP binding|protein serine/threonine kinase activity stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1) 12 BRCA - Breast invasive adenocarcinoma(143;0.0587) GCAGAAGCCCGGGCCGCGCCT 0.552 15 55 --- --- --- --- PASS CHD2 1106 broad.mit.edu 37 15 93498730 93498730 + Silent SNP C G G TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr15:93498730C>G uc002bsp.2 + 15 2372 c.1797C>G c.(1795-1797)CTC>CTG p.L599L CHD2_uc002bso.1_Silent_p.L599L NM_001271 NP_001262 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 599 Helicase ATP-binding. regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|skin(1) 2 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) ATGAGATCCTCTTGAAAGATA 0.343 3 48 --- --- --- --- PASS LRRK1 79705 broad.mit.edu 37 15 101592036 101592036 + Missense_Mutation SNP A T T TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr15:101592036A>T uc002bwr.2 + 24 3879 c.3560A>T c.(3559-3561)TAC>TTC p.Y1187F LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bws.2_5'Flank NM_024652 NP_078928 Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 1187 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1) 12 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GATGTGCAGTACTTCGACATG 0.642 23 64 --- --- --- --- PASS SMG1 23049 broad.mit.edu 37 16 18844332 18844332 + Missense_Mutation SNP G C C TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr16:18844332G>C uc002dfm.2 - 51 9085 c.8722C>G c.(8722-8724)CAG>GAG p.Q2908E SMG1_uc010bwb.2_Missense_Mutation_p.Q2768E|SMG1_uc010bwa.2_Missense_Mutation_p.Q1639E NM_015092 NP_055907 Q96Q15 SMG1_HUMAN PI-3-kinase-related kinase SMG-1 2908 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1) 16 AAGTAGGCCTGAAGAGATTCC 0.488 7 537 --- --- --- --- PASS SMG1 23049 broad.mit.edu 37 16 18870975 18870975 + Missense_Mutation SNP G C C TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr16:18870975G>C uc002dfm.2 - 27 4219 c.3856C>G c.(3856-3858)CAG>GAG p.Q1286E SMG1_uc010bwb.2_Missense_Mutation_p.Q1146E|SMG1_uc010bwa.2_Missense_Mutation_p.Q17E NM_015092 NP_055907 Q96Q15 SMG1_HUMAN PI-3-kinase-related kinase SMG-1 1286 FAT.|Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1) 16 ATGGATTTCTGAAGTTCCCTC 0.348 8 84 --- --- --- --- PASS ACSM5 54988 broad.mit.edu 37 16 20441054 20441054 + Silent SNP T C C TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr16:20441054T>C uc002dhe.2 + 8 1203 c.1056T>C c.(1054-1056)CCT>CCC p.P352P NM_017888 NP_060358 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 352 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding ovary(2) 2 CCCTCAACCCTGACGTGAGGG 0.562 43 120 --- --- --- --- PASS TOX3 27324 broad.mit.edu 37 16 52497890 52497890 + Missense_Mutation SNP G C C TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr16:52497890G>C uc002egw.2 - 3 535 c.364C>G c.(364-366)CTC>GTC p.L122V TOX3_uc010vgt.1_Missense_Mutation_p.L117V|TOX3_uc010vgu.1_Missense_Mutation_p.L122V NM_001080430 NP_001073899 O15405 TOX3_HUMAN TOX high mobility group box family member 3 122 apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity 0 TGTTCCACGAGATTTCTTGAG 0.438 5 211 --- --- --- --- PASS PDPR 55066 broad.mit.edu 37 16 70166087 70166087 + Missense_Mutation SNP G A A TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr16:70166087G>A uc002eyf.1 + 9 1838 c.881G>A c.(880-882)CGG>CAG p.R294Q CLEC18C_uc002exy.2_Intron|PDPR_uc010vlr.1_Missense_Mutation_p.R194Q|PDPR_uc002eyg.1_Missense_Mutation_p.R22Q NM_017990 NP_060460 Q8NCN5 PDPR_HUMAN pyruvate dehydrogenase phosphatase regulatory 294 glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix aminomethyltransferase activity|oxidoreductase activity breast(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.124) ATTTATATTCGGAACTGGCAG 0.473 6 112 --- --- --- --- PASS PMFBP1 83449 broad.mit.edu 37 16 72166728 72166728 + Missense_Mutation SNP C T T TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr16:72166728C>T uc002fcc.3 - 10 1538 c.1366G>A c.(1366-1368)GCG>ACG p.A456T PMFBP1_uc002fcd.2_Missense_Mutation_p.A456T|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Missense_Mutation_p.A311T NM_031293 NP_112583 Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 456 Potential. ovary(2) 2 Ovarian(137;0.179) TTGCACTCCGCCTCCTTGGAC 0.582 23 326 --- --- --- --- PASS SDR42E1 93517 broad.mit.edu 37 16 82033204 82033204 + Missense_Mutation SNP G C C TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr16:82033204G>C uc002fgu.2 - 3 822 c.694C>G c.(694-696)CAC>GAC p.H232D NM_145168 NP_660151 Q8WUS8 D42E1_HUMAN short chain dehydrogenase/reductase family 42E, 232 steroid biosynthetic process integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding 0 GCCAGAATGTGAGCCTGCACC 0.532 82 216 --- --- --- --- PASS CDH13 1012 broad.mit.edu 37 16 83520150 83520150 + Missense_Mutation SNP T C C TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr16:83520150T>C uc002fgx.2 + 7 970 c.850T>C c.(850-852)TAT>CAT p.Y284H CDH13_uc010vns.1_Missense_Mutation_p.Y331H|CDH13_uc010vnt.1_Missense_Mutation_p.Y30H|CDH13_uc010vnu.1_Missense_Mutation_p.Y245H NM_001257 NP_001248 P55290 CAD13_HUMAN cadherin 13 preproprotein 284 Cadherin 2. adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) CCTCCTGCGGTATAATATCCG 0.537 36 77 --- --- --- --- PASS SLC25A11 8402 broad.mit.edu 37 17 4841830 4841830 + Missense_Mutation SNP C G G TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr17:4841830C>G uc002fzo.1 - 4 636 c.523G>C c.(523-525)GAG>CAG p.E175Q SLC25A11_uc002fzp.1_Missense_Mutation_p.E171Q|RNF167_uc002fzq.2_5'Flank|RNF167_uc002fzr.2_5'Flank|RNF167_uc002fzs.2_5'Flank|RNF167_uc002fzt.2_5'Flank|RNF167_uc002fzu.2_5'Flank|RNF167_uc002fzv.2_5'Flank|RNF167_uc002fzw.1_5'Flank|RNF167_uc002fzx.2_5'Flank NM_003562 NP_003553 Q02978 M2OM_HUMAN solute carrier family 25 member 11 isoform 1 175 Solcar 2. gluconeogenesis integral to plasma membrane|mitochondrial inner membrane oxoglutarate:malate antiporter activity 0 AGGACACCCTCTTCCCGGGTG 0.587 7 193 --- --- --- --- PASS NF1 4763 broad.mit.edu 37 17 29679291 29679291 + Nonsense_Mutation SNP C T T TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr17:29679291C>T uc002hgg.2 + 51 7807 c.7474C>T c.(7474-7476)CAG>TAG p.Q2492* NF1_uc002hgh.2_Nonsense_Mutation_p.Q2471*|NF1_uc010cso.2_Nonsense_Mutation_p.Q680*|NF1_uc010wbt.1_Intron|NF1_uc010wbu.1_RNA NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 2492 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) AAAGGAGACTCAGCCATGGTC 0.473 D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 7 144 --- --- --- --- PASS RHBDL3 162494 broad.mit.edu 37 17 30621462 30621462 + Splice_Site SNP G C C TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr17:30621462G>C uc002hhe.1 + 5 682 c.668_splice c.e5+1 p.G223_splice RHBDL3_uc010csw.1_Splice_Site_p.G215_splice|RHBDL3_uc010csx.1_Splice_Site_p.G223_splice|RHBDL3_uc010csy.1_Splice_Site_p.G125_splice|RHBDL3_uc002hhf.1_Splice_Site_p.G125_splice NM_138328 NP_612201 P58872 RHBL3_HUMAN rhomboid protease 3 proteolysis integral to membrane calcium ion binding|serine-type endopeptidase activity ovary(1) 1 Breast(31;0.116)|Ovarian(249;0.182) TGCATGCAGGGTGAGTACCTG 0.408 40 97 --- --- --- --- PASS GAS2L2 246176 broad.mit.edu 37 17 34079743 34079743 + Missense_Mutation SNP G A A TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr17:34079743G>A uc002hjv.1 - 1 155 c.127C>T c.(127-129)CGC>TGC p.R43C NM_139285 NP_644814 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 43 CH. cell cycle arrest cytoplasm|cytoskeleton ovary(1)|skin(1) 2 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TAGAGGTCGCGAAGCCACTCA 0.612 4 98 --- --- --- --- PASS KRT33A 3883 broad.mit.edu 37 17 39503459 39503459 + Missense_Mutation SNP G A A rs143073969 TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr17:39503459G>A uc002hwk.1 - 4 641 c.604C>T c.(604-606)CGC>TGC p.R202C NM_004138 NP_004129 O76009 KT33A_HUMAN keratin 33A 202 Rod.|Coil 1B. intermediate filament protein binding|structural molecule activity 0 Breast(137;0.000496) AGCTGGCAGCGCAGGGTGTTA 0.502 5 76 --- --- --- --- PASS SLC4A1 6521 broad.mit.edu 37 17 42332032 42332032 + Splice_Site SNP T C C TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr17:42332032T>C uc002igf.3 - 16 2040 c.1891_splice c.e16-1 p.K631_splice NM_000342 NP_000333 P02730 B3AT_HUMAN solute carrier family 4, anion exchanger, member bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) CGAGAGTTTCTGTGGGAGGGG 0.617 11 27 --- --- --- --- PASS KPNB1 3837 broad.mit.edu 37 17 45748153 45748153 + Missense_Mutation SNP C T T TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr17:45748153C>T uc002ilt.1 + 12 1838 c.1502C>T c.(1501-1503)TCT>TTT p.S501F KPNB1_uc010wkw.1_Missense_Mutation_p.S356F|KPNB1_uc010wkx.1_Missense_Mutation_p.S285F NM_002265 NP_002256 Q14974 IMB1_HUMAN karyopherin beta 1 501 DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein domain specific binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 TGCTTATCTTCTTCATTTGAA 0.428 6 273 --- --- --- --- PASS ARSG 22901 broad.mit.edu 37 17 66364803 66364803 + Silent SNP C T T TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr17:66364803C>T uc002jhc.2 + 7 1615 c.819C>T c.(817-819)CTC>CTT p.L273L ARSG_uc002jhb.1_Silent_p.L109L NM_014960 NP_055775 Q96EG1 ARSG_HUMAN Arylsulfatase G precursor 273 sulfur compound metabolic process endoplasmic reticulum|extracellular space|lysosome arylsulfatase activity|metal ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24) GTGCAGGGCTCTGGGAGATGG 0.542 12 207 --- --- --- --- PASS COG1 9382 broad.mit.edu 37 17 71189264 71189264 + Missense_Mutation SNP C G G TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr17:71189264C>G uc002jjg.2 + 1 92 c.56C>G c.(55-57)GCG>GGG p.A19G COG1_uc002jjh.2_Missense_Mutation_p.A19G|COG1_uc002jjf.1_Missense_Mutation_p.A19G NM_018714 NP_061184 Q8WTW3 COG1_HUMAN component of oligomeric golgi complex 1 19 Golgi organization|intra-Golgi vesicle-mediated transport|protein transport Golgi membrane|Golgi transport complex protein binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(166;0.197) CGCGACCCTGCGGCTCTTTTC 0.662 7 12 --- --- --- --- PASS DTNA 1837 broad.mit.edu 37 18 32462135 32462135 + Silent SNP G C C TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr18:32462135G>C uc010dmn.1 + 20 2185 c.2184G>C c.(2182-2184)CTG>CTC p.L728L DTNA_uc002kxw.2_Silent_p.L671L|DTNA_uc010dmj.2_Silent_p.L668L|DTNA_uc002kxz.2_Silent_p.L675L|DTNA_uc002kxy.2_Silent_p.L668L|DTNA_uc010xby.1_Silent_p.L418L|DTNA_uc010xbz.1_Silent_p.L437L|DTNA_uc010xca.1_Silent_p.L380L|DTNA_uc002kye.2_Silent_p.L376L NM_001390 NP_001381 Q9Y4J8 DTNA_HUMAN dystrobrevin alpha isoform 1 728 neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding 0 AGGAATACCTGAAACAGAAGC 0.512 4 96 --- --- --- --- PASS NLRP4 147945 broad.mit.edu 37 19 56363671 56363671 + Silent SNP C A A TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr19:56363671C>A uc002qmd.3 + 2 647 c.225C>A c.(223-225)ATC>ATA p.I75I NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 75 DAPIN. ATP binding ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) CCTTAAGAATCTTTCAAAAGA 0.443 4 125 --- --- --- --- PASS PLAGL2 5326 broad.mit.edu 37 20 30784525 30784525 + Silent SNP G A A TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr20:30784525G>A uc002wxn.2 - 3 1438 c.1221C>T c.(1219-1221)CTC>CTT p.L407L NM_002657 NP_002648 Q9UPG8 PLAL2_HUMAN pleiomorphic adenoma gene-like 2 407 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) TAGCAGCGCAGAGGGCCTCAG 0.652 4 44 --- --- --- --- PASS ZBTB46 140685 broad.mit.edu 37 20 62378374 62378374 + Missense_Mutation SNP G A A TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr20:62378374G>A uc002ygv.1 - 5 1880 c.1679C>T c.(1678-1680)GCG>GTG p.A560V ZBTB46_uc002ygu.2_RNA NM_025224 NP_079500 Q86UZ6 ZBT46_HUMAN zinc finger and BTB domain containing 46 560 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding large_intestine(1)|ovary(1) 2 all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09) CGCCAACAGCGCATCCTCAGG 0.711 3 40 --- --- --- --- PASS DNAJC28 54943 broad.mit.edu 37 21 34861439 34861439 + Missense_Mutation SNP C G G TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr21:34861439C>G uc002yrv.2 - 2 711 c.262G>C c.(262-264)GAT>CAT p.D88H DNAJC28_uc002yrw.2_Missense_Mutation_p.D88H NM_017833 NP_060303 Q9NX36 DJC28_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 28 88 J. heat shock protein binding 0 GTTGCAGAATCAGCAGTATTA 0.413 9 232 --- --- --- --- PASS COL6A2 1292 broad.mit.edu 37 21 47532209 47532209 + Missense_Mutation SNP G C C TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr21:47532209G>C uc002zia.1 + 3 514 c.432G>C c.(430-432)CAG>CAC p.Q144H COL6A2_uc002zhy.1_Missense_Mutation_p.Q144H|COL6A2_uc002zhz.1_Missense_Mutation_p.Q144H|COL6A2_uc002zib.1_Intron NM_001849 NP_001840 P12110 CO6A2_HUMAN alpha 2 type VI collagen isoform 2C2 precursor 144 VWFA 1.|Nonhelical region. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging central_nervous_system(7)|ovary(1) 8 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) TGACGGAGCAGATCCGGCAGG 0.692 4 25 --- --- --- --- PASS LOC96610 96610 broad.mit.edu 37 22 22712517 22712517 + RNA SNP C T T TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr22:22712517C>T uc011aim.1 + 41 c.4305C>T Parts of antibodies, mostly variable regions. 0 GGCTCCAAGTCTGGCACCTCA 0.582 17 281 --- --- --- --- PASS NPTXR 23467 broad.mit.edu 37 22 39224304 39224304 + Missense_Mutation SNP C T T TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr22:39224304C>T uc003awk.2 - 2 992 c.838G>A c.(838-840)GAG>AAG p.E280K NM_014293 NP_055108 O95502 NPTXR_HUMAN neuronal pentraxin receptor 280 Extracellular (Potential). integral to membrane metal ion binding central_nervous_system(2)|skin(1) 3 Melanoma(58;0.04) TGCTCCAGCTCAGCCACACGA 0.612 35 94 --- --- --- --- PASS EFCAB6 64800 broad.mit.edu 37 22 43996133 43996133 + Missense_Mutation SNP C T T TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr22:43996133C>T uc003bdy.1 - 23 2907 c.2692G>A c.(2692-2694)GAG>AAG p.E898K EFCAB6_uc003bdz.1_Missense_Mutation_p.E746K|EFCAB6_uc010gzi.1_Missense_Mutation_p.E746K|EFCAB6_uc010gzj.1_Missense_Mutation_p.E124K NM_022785 NP_073622 Q5THR3 EFCB6_HUMAN CAP-binding protein complex interacting protein 898 EF-hand 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 7 Ovarian(80;0.0247)|all_neural(38;0.025) CCTTTTCCCTCGGTGTCGTAT 0.428 6 329 --- --- --- --- PASS MBTPS2 51360 broad.mit.edu 37 X 21900556 21900556 + Missense_Mutation SNP T C C TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chrX:21900556T>C uc004dae.2 + 11 1540 c.1343T>C c.(1342-1344)CTG>CCG p.L448P MBTPS2_uc010nfr.2_Missense_Mutation_p.L41P NM_015884 NP_056968 O43462 MBTP2_HUMAN membrane-bound transcription factor peptidase, 448 Helical; (Potential). cholesterol metabolic process|proteolysis Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity ovary(1) 1 CCCAGGTACCTGATTTCCCTC 0.413 3 149 --- --- --- --- PASS GATA1 2623 broad.mit.edu 37 X 48652460 48652460 + Silent SNP C T T TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chrX:48652460C>T uc004dkq.3 + 6 1222 c.1131C>T c.(1129-1131)AGC>AGT p.S377S NM_002049 NP_002040 P15976 GATA1_HUMAN GATA binding protein 1 377 basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter nuclear membrane|nucleolus|nucleoplasm C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(246)|lung(2) 248 GGCCTGTTAGCCACCTCATGC 0.662 Mis|F megakaryoblastic leukemia of Downs Syndrome 12 5 --- --- --- --- PASS FAAH2 158584 broad.mit.edu 37 X 57515355 57515355 + Missense_Mutation SNP G A A TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chrX:57515355G>A uc004dvc.2 + 11 1738 c.1589G>A c.(1588-1590)GGA>GAA p.G530E NM_174912 NP_777572 Q6GMR7 FAAH2_HUMAN fatty acid amide hydrolase 2 530 integral to membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity ovary(3) 3 GTCTGTCCAGGAAAGTTTTAG 0.483 HNSCC(52;0.14) 4 63 --- --- --- --- PASS ARMCX2 9823 broad.mit.edu 37 X 100911754 100911754 + Missense_Mutation SNP G A A TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chrX:100911754G>A uc004eid.2 - 3 1176 c.821C>T c.(820-822)GCG>GTG p.A274V ARMCX2_uc004eie.3_Missense_Mutation_p.A274V|ARMCX2_uc004eif.3_Missense_Mutation_p.A274V|ARMCX2_uc004eig.3_Missense_Mutation_p.A274V|ARMCX2_uc010nnt.2_Missense_Mutation_p.A274V NM_177949 NP_808818 Q7L311 ARMX2_HUMAN ALEX2 protein 274 Ala-rich. integral to membrane binding ovary(6) 6 CGCTCCAGTCGCTGATGTGGC 0.562 39 187 --- --- --- --- PASS TMLHE 55217 broad.mit.edu 37 X 154774821 154774821 + Silent SNP G C C TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chrX:154774821G>C uc004fnn.2 - 2 283 c.117C>G c.(115-117)GTC>GTG p.V39V TMLHE_uc004fno.2_Silent_p.V39V|TMLHE_uc004fnp.3_Silent_p.V39V NM_018196 NP_060666 Q9NVH6 TMLH_HUMAN trimethyllysine hydroxylase, epsilon 39 carnitine biosynthetic process mitochondrial matrix iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity ovary(1) 1 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Succinic acid(DB00139)|Vitamin C(DB00126) GGTGCCAATGGACAGCTAAAG 0.463 8 100 --- --- --- --- PASS FAM166B 730112 broad.mit.edu 37 9 35562393 35562394 + Frame_Shift_Ins INS - TAGT TAGT rs142582869 by1000genomes TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr9:35562393_35562394insTAGT uc010mkr.2 - 5 793_794 c.722_723insACTA c.(721-723)TATfs p.Y241fs FAM166B_uc011lov.1_Frame_Shift_Ins_p.Y229fs|FAM166B_uc011low.1_Frame_Shift_Ins_p.M226fs|FAM166B_uc003zwy.2_3'UTR NM_001164310 NP_001157782 A8MTA8 F166B_HUMAN hypothetical protein LOC730112 isoform 1 241 0 CGTAGCCCCCATAGTTAGGTAA 0.564 10 8 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7579585 7579585 + Frame_Shift_Del DEL G - - rs11575998 TCGA-60-2707-01A-01D-1522-08 TCGA-60-2707-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 5d1fa470-2789-4576-9743-0362af682c1d 278eaa1f-56e1-48e7-903f-9b9c3ad9eb82 g.chr17:7579585delG uc002gim.2 - 4 296 c.102delC c.(100-102)CCCfs p.P34fs TP53_uc002gig.1_Frame_Shift_Del_p.P34fs|TP53_uc002gih.2_Frame_Shift_Del_p.P34fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Del_p.P34fs|TP53_uc010cni.1_Frame_Shift_Del_p.P34fs|TP53_uc002gij.2_Frame_Shift_Del_p.P34fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_5'UTR|TP53_uc010cnk.1_Frame_Shift_Del_p.P49fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 34 Transcription activation (acidic).|Interaction with HRMT1L2. P -> L (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(7)|p.P34L(2)|p.?(1)|p.S33fs*23(1)|p.P34fs*8(1)|p.P36fs*7(1)|p.P13fs*18(1)|p.S33fs*6(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) GGGACGGCAAGGGGGACTGTA 0.383 111 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) 191 120 --- --- --- ---