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 KIF1B 23095 broad.mit.edu 37 1 10386311 10386311 + Missense_Mutation SNP G A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr1:10386311G>A uc001aqx.3 + 27 3020 c.2818G>A c.(2818-2820)GTG>ATG p.V940M KIF1B_uc001aqw.3_Missense_Mutation_p.V894M|KIF1B_uc001aqy.2_Missense_Mutation_p.V914M|KIF1B_uc001aqz.2_Missense_Mutation_p.V940M|KIF1B_uc001ara.2_Missense_Mutation_p.V900M|KIF1B_uc001arb.2_Missense_Mutation_p.V926M NM_015074 NP_055889 O60333 KIF1B_HUMAN kinesin family member 1B isoform b 940 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) TGAGGCATTCGTGGATGACGC 0.557 11 149 --- --- --- --- PASS GLIS1 148979 broad.mit.edu 37 1 54060199 54060199 + Missense_Mutation SNP G A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr1:54060199G>A uc001cvr.1 - 3 944 c.377C>T c.(376-378)TCG>TTG p.S126L NM_147193 NP_671726 Q8NBF1 GLIS1_HUMAN GLIS family zinc finger 1 126 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding skin(1) 1 GCTGTCCGTCGATGCAGGGCC 0.632 8 93 --- --- --- --- PASS DOCK7 85440 broad.mit.edu 37 1 62923246 62923246 + Missense_Mutation SNP G C C TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr1:62923246G>C uc001daq.2 - 48 6344 c.6310C>G c.(6310-6312)CAG>GAG p.Q2104E DOCK7_uc001dan.2_Missense_Mutation_p.Q1967E|DOCK7_uc001dao.2_Missense_Mutation_p.Q1965E|DOCK7_uc001dap.2_Missense_Mutation_p.Q2084E|DOCK7_uc001dam.2_Missense_Mutation_p.Q1286E|DOCK7_uc010oov.1_Missense_Mutation_p.Q845E NM_033407 NP_212132 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 2115 activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding ovary(2) 2 TTGTATAACTGAGGGATCTTT 0.413 15 143 --- --- --- --- PASS PKN2 5586 broad.mit.edu 37 1 89279257 89279257 + Missense_Mutation SNP G C C TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr1:89279257G>C uc001dmn.2 + 16 2462 c.2120G>C c.(2119-2121)AGA>ACA p.R707T PKN2_uc010osp.1_Missense_Mutation_p.R691T|PKN2_uc010osq.1_Missense_Mutation_p.R550T|PKN2_uc009wcv.2_Missense_Mutation_p.R659T|PKN2_uc010osr.1_Missense_Mutation_p.R372T NM_006256 NP_006247 Q16513 PKN2_HUMAN protein kinase N2 707 Protein kinase. signal transduction cytoplasm ATP binding|histone deacetylase binding|protein kinase C activity large_intestine(1)|lung(1)|skin(1) 3 Lung NSC(277;0.123) all cancers(265;0.0136)|Epithelial(280;0.0301) TGTGAAAAAAGAATTTTTGAA 0.279 13 155 --- --- --- --- PASS CTTNBP2NL 55917 broad.mit.edu 37 1 112998820 112998820 + Missense_Mutation SNP G C C TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr1:112998820G>C uc001ebx.2 + 6 934 c.706G>C c.(706-708)GAG>CAG p.E236Q CTTNBP2NL_uc001ebz.2_5'Flank NM_018704 NP_061174 Q9P2B4 CT2NL_HUMAN CTTNBP2 N-terminal like 236 Potential. actin cytoskeleton protein binding central_nervous_system(2)|ovary(1) 3 all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GGCCCAGGTAGAGAAGCAGTT 0.483 9 81 --- --- --- --- PASS LRIG2 9860 broad.mit.edu 37 1 113655227 113655227 + Missense_Mutation SNP A C C TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr1:113655227A>C uc001edf.1 + 14 2123 c.1925A>C c.(1924-1926)GAC>GCC p.D642A LRIG2_uc009wgn.1_Missense_Mutation_p.D539A NM_014813 NP_055628 O94898 LRIG2_HUMAN leucine-rich repeats and immunoglobulin-like 642 Ig-like C2-type 2.|Extracellular (Potential). cytoplasm|integral to membrane|plasma membrane ovary(3) 3 Lung SC(450;0.246) all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986) Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15) GGTGGTACTGACTTTCCTGCG 0.493 15 130 --- --- --- --- PASS MCL1 4170 broad.mit.edu 37 1 150551640 150551640 + Missense_Mutation SNP C T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr1:150551640C>T uc001euz.2 - 1 497 c.367G>A c.(367-369)GAA>AAA p.E123K MCL1_uc010pch.1_Missense_Mutation_p.E13K|MCL1_uc001eva.2_Missense_Mutation_p.E123K NM_021960 NP_068779 Q07820 MCL1_HUMAN myeloid cell leukemia sequence 1 isoform 1 123 PEST-like. anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus integral to membrane|mitochondrial outer membrane|nucleoplasm BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity 0 all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|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;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) AGCTCCTCTTCGGGCGACATG 0.687 7 52 --- --- --- --- PASS THBS3 7059 broad.mit.edu 37 1 155172145 155172145 + Silent SNP G A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr1:155172145G>A uc001fix.2 - 9 1028 c.1005C>T c.(1003-1005)ACC>ACT p.T335T RAG1AP1_uc010pey.1_Intron|THBS3_uc009wqi.2_Silent_p.T326T|THBS3_uc001fiz.2_Silent_p.T335T|THBS3_uc001fiy.2_5'UTR|THBS3_uc010pfu.1_Silent_p.T215T|THBS3_uc010pfv.1_RNA|THBS3_uc001fja.2_RNA NM_007112 NP_009043 P49746 TSP3_HUMAN thrombospondin 3 precursor 335 EGF-like 2; calcium-binding (Potential). cell-matrix adhesion extracellular region|perinuclear region of cytoplasm calcium ion binding|heparin binding|structural molecule activity breast(3)|ovary(2) 5 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) AGCCGGGCATGGTGTTGATGC 0.617 19 117 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158604375 158604375 + Missense_Mutation SNP C A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr1:158604375C>A uc001fst.1 - 39 5722 c.5523G>T c.(5521-5523)TTG>TTT p.L1841F NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1841 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) CTCGGACAGCCAAAGCATTCT 0.398 32 186 --- --- --- --- PASS DUSP27 92235 broad.mit.edu 37 1 167088693 167088693 + Silent SNP G A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr1:167088693G>A uc001geb.1 + 4 645 c.645G>A c.(643-645)CTG>CTA p.L215L NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 215 Tyrosine-protein phosphatase. protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity ovary(3) 3 AGGCGCTGCTGACTTACAGAG 0.527 10 45 --- --- --- --- PASS SMG7 9887 broad.mit.edu 37 1 183515449 183515449 + Missense_Mutation SNP C T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr1:183515449C>T uc001gqg.2 + 17 2841 c.2719C>T c.(2719-2721)CCT>TCT p.P907S SMG7_uc010pob.1_Missense_Mutation_p.P890S|SMG7_uc001gqf.2_Missense_Mutation_p.P861S|SMG7_uc001gqh.2_Missense_Mutation_p.P861S|SMG7_uc001gqi.2_Missense_Mutation_p.P819S|SMG7_uc010poc.1_Missense_Mutation_p.P865S NM_173156 NP_775179 Q92540 SMG7_HUMAN SMG-7 homolog isoform 1 907 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 AGAGCAGGATCCTGTACCCAG 0.473 11 72 --- --- --- --- PASS FAM5C 339479 broad.mit.edu 37 1 190129961 190129961 + Missense_Mutation SNP T C C TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr1:190129961T>C uc001gse.1 - 7 1253 c.1021A>G c.(1021-1023)ATA>GTA p.I341V FAM5C_uc010pot.1_Missense_Mutation_p.I239V NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 341 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) AAATGCATTATAGTAGATGTG 0.318 46 166 --- --- --- --- PASS KDM5B 10765 broad.mit.edu 37 1 202718206 202718206 + Missense_Mutation SNP G A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr1:202718206G>A uc001gyf.2 - 14 1999 c.1883C>T c.(1882-1884)TCC>TTC p.S628F KDM5B_uc009xag.2_Missense_Mutation_p.S664F|KDM5B_uc001gyg.1_Missense_Mutation_p.S470F NM_006618 NP_006609 Q9UGL1 KDM5B_HUMAN jumonji, AT rich interactive domain 1B 628 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(2)|breast(2)|urinary_tract(1) 5 CTCATCGTGGGAAAACACACA 0.413 8 99 --- --- --- --- PASS IRF6 3664 broad.mit.edu 37 1 209965712 209965712 + Missense_Mutation SNP G T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr1:209965712G>T uc001hhq.1 - 6 832 c.569C>A c.(568-570)GCA>GAA p.A190E IRF6_uc010psm.1_Missense_Mutation_p.A95E|IRF6_uc009xct.1_Missense_Mutation_p.A190E NM_006147 NP_006138 O14896 IRF6_HUMAN interferon regulatory factor 6 190 cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0351) GGGCCACACTGCCTCCGGGCT 0.552 HNSCC(57;0.16) 3 92 --- --- --- --- PASS RPS6KC1 26750 broad.mit.edu 37 1 213414815 213414815 + Missense_Mutation SNP G T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr1:213414815G>T uc010ptr.1 + 11 2155 c.1996G>T c.(1996-1998)GAC>TAC p.D666Y RPS6KC1_uc001hkd.2_Missense_Mutation_p.D654Y|RPS6KC1_uc010pts.1_Missense_Mutation_p.D454Y|RPS6KC1_uc010ptt.1_Missense_Mutation_p.D454Y|RPS6KC1_uc010ptu.1_Missense_Mutation_p.D485Y|RPS6KC1_uc010ptv.1_Missense_Mutation_p.D201Y|RPS6KC1_uc001hke.2_Missense_Mutation_p.D485Y NM_012424 NP_036556 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 666 cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity lung(4)|ovary(3)|breast(1) 8 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) GGGCTCAGATGACTCAGTGCC 0.403 25 116 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216040459 216040459 + Missense_Mutation SNP G C C TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr1:216040459G>C uc001hku.1 - 44 9122 c.8735C>G c.(8734-8736)CCG>CGG p.P2912R NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2912 Extracellular (Potential).|Fibronectin type-III 15. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TTCTCGGCTCGGTGTAAAACC 0.423 HNSCC(13;0.011) 4 86 --- --- --- --- PASS WNT3A 89780 broad.mit.edu 37 1 228210542 228210542 + Silent SNP C T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr1:228210542C>T uc001hrq.1 + 2 324 c.246C>T c.(244-246)CGC>CGT p.R82R WNT3A_uc001hrp.1_Silent_p.R82R NM_033131 NP_149122 P56704 WNT3A_HUMAN wingless-type MMTV integration site family, 82 axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity ovary(1) 1 Prostate(94;0.0405) ACCAGTTCCGCGGCCGCCGGT 0.642 7 48 --- --- --- --- PASS ZNF669 79862 broad.mit.edu 37 1 247264358 247264358 + Missense_Mutation SNP C A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr1:247264358C>A uc001ice.2 - 4 886 c.713G>T c.(712-714)AGA>ATA p.R238I ZNF669_uc001icf.2_Missense_Mutation_p.R152I NM_024804 NP_079080 Q96BR6 ZN669_HUMAN zinc finger protein 669 isoform 1 238 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053) OV - Ovarian serous cystadenocarcinoma(106;0.00427) CATGTGTCTTCTAACACCTGG 0.368 20 209 --- --- --- --- PASS OR14C36 127066 broad.mit.edu 37 1 248512354 248512354 + Missense_Mutation SNP C A A rs145207343 TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr1:248512354C>A uc010pzl.1 + 1 278 c.278C>A c.(277-279)GCG>GAG p.A93E NM_001001918 NP_001001918 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, 93 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 ATTTCTAAGGCGGGATGTGTA 0.473 3 96 --- --- --- --- PASS OR14I1 401994 broad.mit.edu 37 1 248845350 248845350 + Missense_Mutation SNP G C C TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr1:248845350G>C uc001ieu.1 - 1 256 c.256C>G c.(256-258)CGC>GGC p.R86G NM_001004734 NP_001004734 A6ND48 O14I1_HUMAN olfactory receptor, family 14, subfamily I, 86 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GAGCTTCTGCGAGTCAGGGAG 0.468 10 34 --- --- --- --- PASS MYT1L 23040 broad.mit.edu 37 2 1906860 1906860 + Missense_Mutation SNP T C C TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr2:1906860T>C uc002qxe.2 - 14 2851 c.2024A>G c.(2023-2025)TAT>TGT p.Y675C MYT1L_uc002qxd.2_Missense_Mutation_p.Y673C|MYT1L_uc010ewl.1_Intron NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 675 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) ACCATCATCATATCCTTTGGG 0.438 8 119 --- --- --- --- PASS KIDINS220 57498 broad.mit.edu 37 2 8871135 8871135 + Silent SNP G A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr2:8871135G>A uc002qzc.2 - 30 5213 c.5031C>T c.(5029-5031)AAC>AAT p.N1677N KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Silent_p.N1578N|KIDINS220_uc002qzb.2_Silent_p.N531N NM_020738 NP_065789 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate of 220 kDa 1677 Cytoplasmic (Potential). activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane ovary(3)|central_nervous_system(1) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) TGGGAGTTCGGTTCAGGTTGT 0.488 8 102 --- --- --- --- PASS PUM2 23369 broad.mit.edu 37 2 20462982 20462982 + Missense_Mutation SNP C G G TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr2:20462982C>G uc002rds.1 - 13 2220 c.2197G>C c.(2197-2199)GAG>CAG p.E733Q PUM2_uc002rdq.1_Missense_Mutation_p.E110Q|PUM2_uc002rdt.1_Missense_Mutation_p.E733Q|PUM2_uc002rdr.2_Missense_Mutation_p.E593Q|PUM2_uc010yjy.1_Missense_Mutation_p.E654Q|PUM2_uc002rdu.1_Missense_Mutation_p.E733Q|PUM2_uc010yjz.1_Missense_Mutation_p.E672Q NM_015317 NP_056132 Q8TB72 PUM2_HUMAN pumilio homolog 2 733 Pumilio 1.|PUM-HD. regulation of translation perinuclear region of cytoplasm|stress granule protein binding|RNA binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGAGAAAACTCAACTATATGT 0.368 8 73 --- --- --- --- PASS ZNF513 130557 broad.mit.edu 37 2 27602971 27602971 + Missense_Mutation SNP C G G TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr2:27602971C>G uc002rkk.2 - 2 400 c.200G>C c.(199-201)AGA>ACA p.R67T ZNF513_uc002rkj.2_Missense_Mutation_p.R5T NM_144631 NP_653232 Q8N8E2 ZN513_HUMAN zinc finger protein 513 67 Gly-rich. regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception nucleus transcription regulatory region DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTCCGAGTCTCTCTCGAAGCC 0.552 21 429 --- --- --- --- PASS LRPPRC 10128 broad.mit.edu 37 2 44153051 44153051 + Missense_Mutation SNP C T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr2:44153051C>T uc002rtr.2 - 26 2844 c.2786G>A c.(2785-2787)AGA>AAA p.R929K LRPPRC_uc010yob.1_Missense_Mutation_p.R829K NM_133259 NP_573566 P42704 LPPRC_HUMAN leucine-rich PPR motif-containing protein 929 mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm beta-tubulin binding|microtubule binding|RNA binding ovary(2)|skin(1) 3 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TGCAACACATCTGTCACAAAA 0.408 63 105 --- --- --- --- PASS SLC3A1 6519 broad.mit.edu 37 2 44547771 44547771 + Missense_Mutation SNP C T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr2:44547771C>T uc002ruc.3 + 10 2129 c.2051C>T c.(2050-2052)TCG>TTG p.S684L PREPL_uc002ruf.2_3'UTR|PREPL_uc002rug.2_3'UTR|PREPL_uc002ruh.2_3'UTR|PREPL_uc010fax.2_3'UTR|PREPL_uc002rui.3_3'UTR|PREPL_uc002ruj.1_3'UTR|PREPL_uc002ruk.1_3'UTR|SLC3A1_uc002rud.3_Missense_Mutation_p.S406L|SLC3A1_uc002rue.3_Missense_Mutation_p.S304L NM_000341 NP_000332 Q07837 SLC31_HUMAN solute carrier family 3, member 1 684 Extracellular (Potential). carbohydrate metabolic process|cellular amino acid metabolic process|ion transport integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity 0 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) L-Cystine(DB00138) CTGTATACCTCGTGTTAGGCA 0.413 7 112 --- --- --- --- PASS PSME4 23198 broad.mit.edu 37 2 54147333 54147333 + Missense_Mutation SNP G A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr2:54147333G>A uc002rxp.2 - 19 2473 c.2417C>T c.(2416-2418)TCT>TTT p.S806F PSME4_uc010yop.1_Missense_Mutation_p.S692F|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Missense_Mutation_p.S181F|PSME4_uc010fbv.1_Intron NM_014614 NP_055429 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator 806 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding ovary(2)|breast(2)|pancreas(1) 5 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) AACCAACCTAGACATTTCAAG 0.353 96 364 --- --- --- --- PASS PSME4 23198 broad.mit.edu 37 2 54147371 54147371 + Silent SNP G C C TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr2:54147371G>C uc002rxp.2 - 19 2435 c.2379C>G c.(2377-2379)GTC>GTG p.V793V PSME4_uc010yop.1_Silent_p.V679V|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Silent_p.V168V|PSME4_uc010fbv.1_Intron NM_014614 NP_055429 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator 793 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding ovary(2)|breast(2)|pancreas(1) 5 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) GCTGGAGTTTGACGAGCTCAG 0.403 91 357 --- --- --- --- PASS PSME4 23198 broad.mit.edu 37 2 54147429 54147429 + Missense_Mutation SNP G A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr2:54147429G>A uc002rxp.2 - 19 2377 c.2321C>T c.(2320-2322)TCA>TTA p.S774L PSME4_uc010yop.1_Missense_Mutation_p.S660L|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Missense_Mutation_p.S149L|PSME4_uc010fbv.1_Intron NM_014614 NP_055429 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator 774 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding ovary(2)|breast(2)|pancreas(1) 5 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) CACTTCTTCTGAAGAAGGAAC 0.453 76 209 --- --- --- --- PASS USP34 9736 broad.mit.edu 37 2 61463362 61463362 + Missense_Mutation SNP C A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr2:61463362C>A uc002sbe.2 - 55 6874 c.6852G>T c.(6850-6852)TGG>TGT p.W2284C USP34_uc002sbf.2_Missense_Mutation_p.W434C NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN ubiquitin specific protease 34 2284 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) TACACAATTGCCACATAAATC 0.269 18 118 --- --- --- --- PASS C2orf78 388960 broad.mit.edu 37 2 74043451 74043451 + Missense_Mutation SNP G C C TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr2:74043451G>C uc002sjr.1 + 3 2222 c.2101G>C c.(2101-2103)GAG>CAG p.E701Q NM_001080474 NP_001073943 A6NCI8 CB078_HUMAN hypothetical protein LOC388960 701 ovary(2) 2 TGCTGAAAAAGAGTGTACATC 0.493 12 93 --- --- --- --- PASS RNF149 284996 broad.mit.edu 37 2 101924926 101924926 + Missense_Mutation SNP A G G TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr2:101924926A>G uc002taz.1 - 1 227 c.125T>C c.(124-126)GTA>GCA p.V42A RNF149_uc002tax.1_RNA NM_173647 NP_775918 Q8NC42 RN149_HUMAN ring finger protein 149 precursor 42 integral to membrane ligase activity|zinc ion binding ovary(1)|breast(1) 2 CTCGATGTTTACCACGGCCGA 0.607 12 69 --- --- --- --- PASS IL1F7 27178 broad.mit.edu 37 2 113676149 113676149 + Silent SNP G A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr2:113676149G>A uc002tij.2 + 5 462 c.420G>A c.(418-420)CTG>CTA p.L140L IL1F7_uc002tik.2_Silent_p.L119L|IL1F7_uc002til.2_Silent_p.L100L|IL1F7_uc002tim.2_Silent_p.L79L|IL1F7_uc002tin.2_Silent_p.L114L NM_014439 NP_055254 Q9NZH6 IL37_HUMAN interleukin 1 family, member 7 isoform 1 140 immune response cytosol|extracellular space|nucleus cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding 0 AGGAGAAACTGATGAAGCTGG 0.527 7 111 --- --- --- --- PASS CLASP1 23332 broad.mit.edu 37 2 122106203 122106203 + Missense_Mutation SNP G A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr2:122106203G>A uc002tnc.2 - 37 4688 c.4298C>T c.(4297-4299)ACG>ATG p.T1433M CLASP1_uc010yyv.1_Missense_Mutation_p.T479M|CLASP1_uc002tmz.2_Missense_Mutation_p.T518M|CLASP1_uc002tna.2_Missense_Mutation_p.T479M|CLASP1_uc010yyw.1_RNA|CLASP1_uc002tnb.2_RNA|CLASP1_uc010yyx.1_RNA|CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Missense_Mutation_p.T1374M|CLASP1_uc010yza.1_Missense_Mutation_p.T1366M|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_RNA|CLASP1_uc002tmy.2_Missense_Mutation_p.T269M NM_015282 NP_056097 Q7Z460 CLAP1_HUMAN CLIP-associating protein 1 isoform 1 1433 Localization to kinetochores.|Interaction with PHLDB2 and RSN.|Interaction with CLIP2 (By similarity). axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule kinetochore binding|microtubule plus-end binding ovary(1)|central_nervous_system(1) 2 Renal(3;0.0496) GTAGTCGGCCGTCTGGATGAT 0.577 5 38 --- --- --- --- PASS THSD7B 80731 broad.mit.edu 37 2 138414670 138414670 + Missense_Mutation SNP C A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr2:138414670C>A uc002tva.1 + 23 4228 c.4228C>A c.(4228-4230)CTT>ATT p.L1410I THSD7B_uc010zbj.1_RNA NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) GAAAGCAAGTCTTTGGAACAA 0.398 8 90 --- --- --- --- PASS RBM43 375287 broad.mit.edu 37 2 152107863 152107863 + Missense_Mutation SNP G A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr2:152107863G>A uc002txh.2 - 4 779 c.631C>T c.(631-633)CCT>TCT p.P211S NM_198557 NP_940959 Q6ZSC3 RBM43_HUMAN RNA binding motif protein 43 211 nucleotide binding|RNA binding 0 BRCA - Breast invasive adenocarcinoma(221;0.131) GCAGTCTCAGGTACTAAGGTC 0.393 13 156 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179425453 179425453 + Missense_Mutation SNP G C C TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr2:179425453G>C uc010zfg.1 - 275 77926 c.77702C>G c.(77701-77703)TCT>TGT p.S25901C uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S19596C|TTN_uc010zfi.1_Missense_Mutation_p.S19529C|TTN_uc010zfj.1_Missense_Mutation_p.S19404C NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 26828 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) CCAGGAAAGAGAGCATTTCTC 0.483 17 57 --- --- --- --- PASS GMPPA 29926 broad.mit.edu 37 2 220371039 220371039 + Missense_Mutation SNP G T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr2:220371039G>T uc002vlr.2 + 12 1125 c.1057G>T c.(1057-1059)GTG>TTG p.V353L GMPPA_uc002vls.2_Missense_Mutation_p.V353L|GMPPA_uc002vlt.2_Missense_Mutation_p.V406L|GMPPA_uc002vlu.2_Missense_Mutation_p.V406L|GMPPA_uc002vlv.2_Missense_Mutation_p.V353L|GMPPA_uc002vlw.2_RNA|GMPPA_uc002vlx.2_Missense_Mutation_p.V353L NM_013335 NP_037467 Q96IJ6 GMPPA_HUMAN GDP-mannose pyrophosphorylase A 353 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine GTP binding|mannose-1-phosphate guanylyltransferase activity 0 Renal(207;0.0183) Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148) CTGGGCCCGCGTGGAGGGTAC 0.622 35 108 --- --- --- --- PASS CHPF 79586 broad.mit.edu 37 2 220404238 220404238 + Missense_Mutation SNP C T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr2:220404238C>T uc002vmc.3 - 4 2422 c.2195G>A c.(2194-2196)CGG>CAG p.R732Q CHPF_uc010zlh.1_Missense_Mutation_p.R570Q NM_024536 NP_078812 Q8IZ52 CHSS2_HUMAN chondroitin polymerizing factor 732 Lumenal (Potential). Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding 0 Renal(207;0.0183) Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) CGTCTGGGCCCGGTAGCGCTG 0.667 4 58 --- --- --- --- PASS ANKMY1 51281 broad.mit.edu 37 2 241468504 241468504 + Silent SNP G A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr2:241468504G>A uc002vyz.1 - 4 865 c.636C>T c.(634-636)ATC>ATT p.I212I ANKMY1_uc002vza.1_Intron|ANKMY1_uc010fzd.1_Silent_p.I301I|ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Intron|ANKMY1_uc002vzd.1_Intron|ANKMY1_uc010fze.1_Intron|ANKMY1_uc002vze.2_Intron NM_016552 NP_057636 Q9P2S6 ANKY1_HUMAN ankyrin repeat and MYND domain containing 1 212 zinc ion binding central_nervous_system(1) 1 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476) GGGTCTCATTGATTATGAACC 0.507 18 189 --- --- --- --- PASS PDCD6IP 10015 broad.mit.edu 37 3 33906918 33906918 + Missense_Mutation SNP C T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr3:33906918C>T uc003cfx.2 + 17 2583 c.2428C>T c.(2428-2430)CCT>TCT p.P810S PDCD6IP_uc003cfy.2_Missense_Mutation_p.P815S|PDCD6IP_uc011axw.1_Missense_Mutation_p.P591S NM_013374 NP_037506 Q8WUM4 PDC6I_HUMAN programmed cell death 6 interacting protein 810 Pro-rich.|Interaction with EIAV p9.|Self-association. apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport cytosol|melanosome|microtubule organizing center calcium-dependent protein binding ovary(1)|skin(1) 2 TCCAGGATATCCTGGGTAAGG 0.547 14 57 --- --- --- --- PASS PLXNB1 5364 broad.mit.edu 37 3 48453313 48453313 + Missense_Mutation SNP C T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr3:48453313C>T uc003csw.2 - 28 5476 c.5206G>A c.(5206-5208)GAC>AAC p.D1736N PLXNB1_uc003cst.2_Missense_Mutation_p.D186N|PLXNB1_uc003csu.2_Missense_Mutation_p.D1553N|PLXNB1_uc003csx.2_Missense_Mutation_p.D1736N NM_002673 NP_002664 O43157 PLXB1_HUMAN plexin B1 precursor 1736 Cytoplasmic (Potential). axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) AGGCGGTTGTCGTTCAAGGTG 0.582 16 135 --- --- --- --- PASS C3orf62 375341 broad.mit.edu 37 3 49314135 49314135 + Silent SNP C T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr3:49314135C>T uc003cwn.2 - 1 374 c.171G>A c.(169-171)TCG>TCA p.S57S C3orf62_uc003cwm.2_5'Flank NM_198562 NP_940964 Q6ZUJ4 CC062_HUMAN hypothetical protein LOC375341 57 0 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GCACGGGCAGCGAGAAGGAGA 0.592 7 84 --- --- --- --- PASS EPHA6 285220 broad.mit.edu 37 3 96945212 96945212 + Missense_Mutation SNP G A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr3:96945212G>A uc010how.1 + 4 1262 c.1219G>A c.(1219-1221)GAA>AAA p.E407K EPHA6_uc003drp.1_Missense_Mutation_p.E407K NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN EPH receptor A6 isoform a 312 Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1) 16 CTGTCAGTGTGAAAAGGGTTA 0.398 19 259 --- --- --- --- PASS OR5K3 403277 broad.mit.edu 37 3 98110363 98110363 + Missense_Mutation SNP C G G rs140041184 byFrequency TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr3:98110363C>G uc011bgw.1 + 1 854 c.854C>G c.(853-855)CCT>CGT p.P285R NM_001005516 NP_001005516 A6NET4 OR5K3_HUMAN olfactory receptor, family 5, subfamily K, 285 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TTATTAAATCCTTTTATTTAT 0.294 18 80 --- --- --- --- PASS CPOX 1371 broad.mit.edu 37 3 98311835 98311835 + Missense_Mutation SNP C T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr3:98311835C>T uc003dsx.2 - 1 607 c.514G>A c.(514-516)GGG>AGG p.G172R CPOX_uc011bgz.1_Missense_Mutation_p.G172R NM_000097 NP_000088 P36551 HEM6_HUMAN coproporphyrinogen oxidase precursor 172 mitochondrial intermembrane space coproporphyrinogen oxidase activity|protein homodimerization activity 0 TTGGCGCCCCCGTCTACCTGT 0.637 3 34 --- --- --- --- PASS ALCAM 214 broad.mit.edu 37 3 105260527 105260527 + Silent SNP G A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr3:105260527G>A uc003dvx.2 + 8 1449 c.909G>A c.(907-909)GTG>GTA p.V303V ALCAM_uc003dvw.1_Silent_p.V303V|ALCAM_uc003dvy.2_Silent_p.V303V|ALCAM_uc011bhh.1_Silent_p.V252V|ALCAM_uc010hpp.2_Intron|ALCAM_uc003dvz.2_5'Flank NM_001627 NP_001618 Q13740 CD166_HUMAN activated leukocyte cell adhesion molecule 303 Extracellular (Potential).|Ig-like C2-type 1. cell adhesion|signal transduction integral to membrane receptor binding ovary(2)|breast(1) 3 TGACGGATGTGAGGCGCAATG 0.418 22 77 --- --- --- --- PASS RETNLB 84666 broad.mit.edu 37 3 108475982 108475982 + Silent SNP C T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr3:108475982C>T uc003dxh.2 - 1 149 c.51G>A c.(49-51)CTG>CTA p.L17L NM_032579 NP_115968 Q9BQ08 RETNB_HUMAN resistin like beta precursor 17 cell proliferation extracellular region hormone activity skin(1) 1 CCGGGTTGATCAGCTGGAGAA 0.522 19 63 --- --- --- --- PASS PHLDB2 90102 broad.mit.edu 37 3 111632271 111632271 + Missense_Mutation SNP A G G TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr3:111632271A>G uc010hqa.2 + 3 1852 c.1441A>G c.(1441-1443)AAG>GAG p.K481E PHLDB2_uc003dyc.2_Missense_Mutation_p.K508E|PHLDB2_uc003dyd.2_Missense_Mutation_p.K481E|PHLDB2_uc003dyg.2_Missense_Mutation_p.K481E|PHLDB2_uc003dyh.2_Missense_Mutation_p.K481E|PHLDB2_uc003dyi.2_Missense_Mutation_p.K67E|PHLDB2_uc003dyf.3_Missense_Mutation_p.K481E NM_001134438 NP_001127910 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, 481 cytoplasm|intermediate filament cytoskeleton|plasma membrane ovary(4)|skin(2) 6 GAAAATCAACAAGGAGCTTGA 0.517 32 159 --- --- --- --- PASS ABHD10 55347 broad.mit.edu 37 3 111710348 111710348 + Missense_Mutation SNP C G G TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr3:111710348C>G uc003dyk.3 + 5 782 c.701C>G c.(700-702)CCA>CGA p.P234R ABHD10_uc011bhq.1_Missense_Mutation_p.P77R NM_018394 NP_060864 Q9NUJ1 ABHDA_HUMAN abhydrolase domain containing 10 precursor 234 mitochondrion serine-type peptidase activity 0 TTACATAGCCCAATTCCTGTG 0.438 52 218 --- --- --- --- PASS GCET2 257144 broad.mit.edu 37 3 111849292 111849292 + Missense_Mutation SNP C T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr3:111849292C>T uc003dys.1 - 2 248 c.98G>A c.(97-99)AGA>AAA p.R33K C3orf52_uc011bht.1_3'UTR|C3orf52_uc003dyr.1_RNA|GCET2_uc003dyt.1_5'UTR NM_152785 NP_689998 Q8N6F7 GCET2_HUMAN germinal center expressed transcript 2 isoform 33 mitochondrion 0 TTGCTCTCACCTGGATGTTCT 0.498 24 311 --- --- --- --- PASS ESYT3 83850 broad.mit.edu 37 3 138174129 138174129 + Silent SNP C T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr3:138174129C>T uc003esk.2 + 3 689 c.463C>T c.(463-465)CTG>TTG p.L155L ESYT3_uc010hug.2_RNA NM_031913 NP_114119 A0FGR9 ESYT3_HUMAN family with sequence similarity 62 (C2 domain 155 integral to membrane|plasma membrane 0 GAGCATCCACCTGAGGACCTT 0.522 20 105 --- --- --- --- PASS RNF7 9616 broad.mit.edu 37 3 141464056 141464056 + Silent SNP G A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr3:141464056G>A uc003eud.2 + 3 412 c.279G>A c.(277-279)GTG>GTA p.V93V RNF7_uc003euc.2_Silent_p.*91*|RNF7_uc003eue.2_RNA NM_014245 NP_055060 Q9UBF6 RBX2_HUMAN ring finger protein 7 isoform 1 93 RING-type. anti-apoptosis|induction of apoptosis by oxidative stress|protein neddylation|response to redox state cytoplasm|nucleus copper ion binding|NEDD8 ligase activity|protein binding|zinc ion binding 0 CCCTGTGGGTGAAACAGAACA 0.453 11 115 --- --- --- --- PASS CCDC39 339829 broad.mit.edu 37 3 180378361 180378361 + Missense_Mutation SNP G C C TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr3:180378361G>C uc010hxe.2 - 4 628 c.513C>G c.(511-513)ATC>ATG p.I171M CCDC39_uc003fkn.2_RNA NM_181426 NP_852091 Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 171 Potential. axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton ovary(4) 4 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) TTCTCACCCTGATTTTATTAT 0.358 5 21 --- --- --- --- PASS LEPREL1 55214 broad.mit.edu 37 3 189692409 189692409 + Missense_Mutation SNP G A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr3:189692409G>A uc011bsk.1 - 9 1778 c.1390C>T c.(1390-1392)CGG>TGG p.R464W LEPREL1_uc003fsg.2_Missense_Mutation_p.R283W NM_018192 NP_060662 Q8IVL5 P3H2_HUMAN leprecan-like 1 isoform a 464 collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation basement membrane|endoplasmic reticulum|Golgi apparatus iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity breast(3)|ovary(1) 4 all_cancers(143;4.01e-10)|Ovarian(172;0.0925) Lung(62;4.35e-05) GBM - Glioblastoma multiforme(93;0.02) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) AGGAGAACCCGCTGAGTCCCG 0.567 8 76 --- --- --- --- PASS GPR78 27201 broad.mit.edu 37 4 8583059 8583059 + Missense_Mutation SNP G A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr4:8583059G>A uc003glk.2 + 1 769 c.350G>A c.(349-351)CGC>CAC p.R117H CPZ_uc003gll.2_RNA NM_080819 NP_543009 Q96P69 GPR78_HUMAN G protein-coupled receptor 78 117 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(4)|ovary(2) 6 TACGCCGGACGCCTGCGACCG 0.697 6 16 --- --- --- --- PASS GPR78 27201 broad.mit.edu 37 4 8584304 8584304 + Missense_Mutation SNP G C C TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr4:8584304G>C uc003glk.2 + 2 1134 c.715G>C c.(715-717)GCC>CCC p.A239P CPZ_uc003gll.2_RNA NM_080819 NP_543009 Q96P69 GPR78_HUMAN G protein-coupled receptor 78 239 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(4)|ovary(2) 6 CCGCCACCGCGCCACCAGGAA 0.622 18 92 --- --- --- --- PASS UGT2A3 79799 broad.mit.edu 37 4 69811154 69811154 + Missense_Mutation SNP C A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr4:69811154C>A uc003hef.2 - 2 765 c.734G>T c.(733-735)TGT>TTT p.C245F UGT2A3_uc010ihp.1_RNA NM_024743 NP_079019 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, 245 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(1)|skin(1) 2 CACAGTCTCACATAATGTAGT 0.328 17 94 --- --- --- --- PASS GRSF1 2926 broad.mit.edu 37 4 71698953 71698953 + Silent SNP A G G TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr4:71698953A>G uc010iia.1 - 3 635 c.552T>C c.(550-552)TTT>TTC p.F184F GRSF1_uc011caz.1_Silent_p.F66F|GRSF1_uc003hfs.2_Silent_p.F22F NM_002092 NP_002083 Q12849 GRSF1_HUMAN G-rich RNA sequence binding factor 1 isoform 1 184 RRM 1. mRNA polyadenylation mRNA binding|nucleotide binding 0 all_hematologic(202;0.21) Lung(101;0.235) TGTTTAGGAGAAAATGTATTC 0.403 7 91 --- --- --- --- PASS HERC3 8916 broad.mit.edu 37 4 89571022 89571022 + Missense_Mutation SNP C G G TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr4:89571022C>G uc003hrw.1 + 4 424 c.258C>G c.(256-258)ATC>ATG p.I86M HERC3_uc003hrv.2_Missense_Mutation_p.I86M|HERC3_uc011cdn.1_Translation_Start_Site NM_014606 NP_055421 Q15034 HERC3_HUMAN hect domain and RLD 3 86 RCC1 2. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasmic membrane-bounded vesicle ubiquitin-protein ligase activity lung(2)|prostate(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(123;0.000319) ATCAGCATATCATTCATGTGG 0.498 5 112 --- --- --- --- PASS ADH5 128 broad.mit.edu 37 4 99993574 99993574 + Missense_Mutation SNP C G G TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr4:99993574C>G uc003hui.2 - 9 1199 c.1119G>C c.(1117-1119)AAG>AAC p.K373N ADH5_uc003huj.2_3'UTR NM_000671 NP_000662 P11766 ADHX_HUMAN class III alcohol dehydrogenase, chi subunit 373 ethanol oxidation|response to redox state alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|S-(hydroxymethyl)glutathione dehydrogenase activity|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(123;2.5e-07) NADH(DB00157) TGAATTAAATCTTTACAACAG 0.398 5 74 --- --- --- --- PASS UGT8 7368 broad.mit.edu 37 4 115589240 115589240 + Splice_Site SNP G A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr4:115589240G>A uc003ibs.2 + 5 1565 c.1043_splice c.e5-1 p.G348_splice UGT8_uc003ibt.2_Splice_Site_p.G348_splice|UGT8_uc011cge.1_Splice_Site NM_001128174 NP_001121646 Q16880 CGT_HUMAN UDP-galactose-ceramide galactosyltransferase 8 central nervous system development|peripheral nervous system development integral to membrane 2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity ovary(1)|skin(1) 2 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000632) TCTTTCTTCAGGGCATTCAAA 0.358 21 122 --- --- --- --- PASS ANKRD50 57182 broad.mit.edu 37 4 125599867 125599867 + Nonsense_Mutation SNP G A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr4:125599867G>A uc003ifg.3 - 2 972 c.706C>T c.(706-708)CGA>TGA p.R236* ANKRD50_uc011cgo.1_Nonsense_Mutation_p.R57*|ANKRD50_uc010inw.2_Nonsense_Mutation_p.R236* NM_020337 NP_065070 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 236 central_nervous_system(1) 1 CTCTGCTTTCGGGCAGAACAG 0.408 6 227 --- --- --- --- PASS NIPBL 25836 broad.mit.edu 37 5 37001175 37001175 + Missense_Mutation SNP C T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr5:37001175C>T uc003jkl.3 + 14 4158 c.3659C>T c.(3658-3660)GCG>GTG p.A1220V NIPBL_uc003jkk.3_Missense_Mutation_p.A1220V NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN delangin isoform A 1220 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1) 9 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) GATTTTACTGCGTTTGGTAAA 0.333 9 180 --- --- --- --- PASS SLC38A9 153129 broad.mit.edu 37 5 54968400 54968400 + Missense_Mutation SNP G T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr5:54968400G>T uc003jqf.2 - 4 438 c.237C>A c.(235-237)GAC>GAA p.D79E SLC38A9_uc003jqd.2_Missense_Mutation_p.D16E|SLC38A9_uc010ivx.2_Missense_Mutation_p.D52E|SLC38A9_uc003jqe.2_RNA|SLC38A9_uc010ivy.2_Intron NM_173514 NP_775785 Q8NBW4 S38A9_HUMAN solute carrier family 38, member 9 79 amino acid transport|sodium ion transport integral to membrane 0 Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181) CCAGTGCCTTGTCTGCAGGAG 0.428 4 192 --- --- --- --- PASS PRR16 51334 broad.mit.edu 37 5 120022385 120022385 + Nonsense_Mutation SNP C A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr5:120022385C>A uc003ksq.2 + 2 1059 c.896C>A c.(895-897)TCA>TAA p.S299* PRR16_uc003ksp.2_Nonsense_Mutation_p.S276*|PRR16_uc003ksr.2_Nonsense_Mutation_p.S229* NM_016644 NP_057728 Q569H4 PRR16_HUMAN proline rich 16 299 pancreas(2)|ovary(1) 3 all_cancers(142;0.0464)|Prostate(80;0.00446) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169) TTGAGGAAGTCAACCACTACA 0.378 4 59 --- --- --- --- PASS PRRC1 133619 broad.mit.edu 37 5 126883605 126883605 + Missense_Mutation SNP G C C TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr5:126883605G>C uc003kuk.2 + 8 1300 c.1120G>C c.(1120-1122)GTA>CTA p.V374L PRRC1_uc003kuj.3_Missense_Mutation_p.V374L NM_130809 NP_570721 Q96M27 PRRC1_HUMAN proline-rich coiled-coil 1 374 Golgi apparatus 0 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113) TTTGGAATTTGTACAGCAGGT 0.368 10 74 --- --- --- --- PASS PSD2 84249 broad.mit.edu 37 5 139216784 139216784 + Missense_Mutation SNP C G G TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr5:139216784C>G uc003leu.1 + 11 1831 c.1626C>G c.(1624-1626)TTC>TTG p.F542L NM_032289 NP_115665 Q9BQI7 PSD2_HUMAN pleckstrin and Sec7 domain containing 2 542 PH. regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAAGAAATTCTACGCAGTGC 0.622 8 133 --- --- --- --- PASS C5orf32 84418 broad.mit.edu 37 5 139622978 139622978 + Silent SNP C G G TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr5:139622978C>G uc003lfd.2 + 3 514 c.276C>G c.(274-276)CTC>CTG p.L92L C5orf32_uc010jfi.2_RNA NM_032412 NP_115788 Q9H1C7 CE032_HUMAN hypothetical protein LOC84418 92 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGCTGTCTCTGGGACATGC 0.582 4 46 --- --- --- --- PASS CD14 929 broad.mit.edu 37 5 140012007 140012007 + Nonsense_Mutation SNP C A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr5:140012007C>A uc003lgi.1 - 2 916 c.562G>T c.(562-564)GAA>TAA p.E188* CD14_uc003lgj.1_Nonsense_Mutation_p.E188* NM_000591 NP_000582 P08571 CD14_HUMAN CD14 antigen precursor 188 LRR 5. apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway anchored to membrane|plasma membrane lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGAACCTGTTCGCAGGAAAAG 0.622 4 83 --- --- --- --- PASS CD14 929 broad.mit.edu 37 5 140012199 140012199 + Missense_Mutation SNP C G G TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr5:140012199C>G uc003lgi.1 - 2 724 c.370G>C c.(370-372)GAG>CAG p.E124Q CD14_uc003lgj.1_Missense_Mutation_p.E124Q NM_000591 NP_000582 P08571 CD14_HUMAN CD14 antigen precursor 124 LRR 3. apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway anchored to membrane|plasma membrane lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTTAGGTCCTCGAGCGTCAGT 0.632 8 90 --- --- --- --- PASS PCDHA6 56142 broad.mit.edu 37 5 140208509 140208509 + Missense_Mutation SNP C T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr5:140208509C>T uc003lho.2 + 1 860 c.833C>T c.(832-834)TCA>TTA p.S278L PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Missense_Mutation_p.S278L|PCDHA6_uc011dab.1_Missense_Mutation_p.S278L NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 278 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGGCAATTTCATATTCTTTT 0.388 29 186 --- --- --- --- PASS PCDHGC3 5098 broad.mit.edu 37 5 140856583 140856583 + Silent SNP A T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr5:140856583A>T uc003lkv.1 + 1 1015 c.900A>T c.(898-900)GTA>GTT p.V300V PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lku.1_Silent_p.V300V|PCDHGC3_uc003lkw.1_Intron NM_002588 NP_002579 Q9UN70 PCDGK_HUMAN protocadherin gamma subfamily C, 3 isoform 1 300 Cadherin 3.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TAGACCTTGTAACCGGGATGC 0.547 20 164 --- --- --- --- PASS GLRA1 2741 broad.mit.edu 37 5 151230968 151230968 + Missense_Mutation SNP G C C TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr5:151230968G>C uc003lut.2 - 7 1182 c.895C>G c.(895-897)CGA>GGA p.R299G GLRA1_uc003lur.2_Missense_Mutation_p.R299G|GLRA1_uc003lus.2_Missense_Mutation_p.R216G NM_001146040 NP_001139512 P23415 GLRA1_HUMAN glycine receptor, alpha 1 isoform 1 precursor 299 R -> L (in STHE; decreased potency of glycine to activate the channel).|R -> Q (in STHE; decreased potency of glycine to activate the channel). muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity ovary(1)|central_nervous_system(1) 2 all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) AGAGATGCTCGAGAGCCGGAG 0.547 6 59 --- --- --- --- PASS GRIA1 2890 broad.mit.edu 37 5 153149833 153149833 + Missense_Mutation SNP T A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr5:153149833T>A uc003lva.3 + 13 2493 c.2128T>A c.(2128-2130)TCC>ACC p.S710T GRIA1_uc003luy.3_Missense_Mutation_p.S710T|GRIA1_uc003luz.3_Missense_Mutation_p.S615T|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.S630T|GRIA1_uc011dcx.1_Missense_Mutation_p.S641T|GRIA1_uc011dcy.1_Missense_Mutation_p.S720T|GRIA1_uc011dcz.1_Missense_Mutation_p.S720T NM_001114183 NP_001107655 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 isoform 710 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding ovary(4)|skin(2) 6 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) AGTGAGGAAATCCAAAGGCAA 0.473 15 79 --- --- --- --- PASS SOX30 11063 broad.mit.edu 37 5 157065554 157065554 + Missense_Mutation SNP G A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr5:157065554G>A uc003lxb.1 - 4 1906 c.1564C>T c.(1564-1566)CAT>TAT p.H522Y SOX30_uc003lxc.1_Intron|SOX30_uc011dds.1_Missense_Mutation_p.H217Y NM_178424 NP_848511 O94993 SOX30_HUMAN SRY (sex determining region Y)-box 30 isoform a 522 regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent nucleus|nucleus sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity ovary(1)|central_nervous_system(1) 2 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TGCAGCTGATGAGTGTCTGTT 0.542 7 86 --- --- --- --- PASS GABRA6 2559 broad.mit.edu 37 5 161128560 161128560 + Missense_Mutation SNP A G G TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr5:161128560A>G uc003lyu.2 + 9 1481 c.1143A>G c.(1141-1143)ATA>ATG p.I381M GABRA6_uc003lyv.2_Missense_Mutation_p.I152M NM_000811 NP_000802 Q16445 GBRA6_HUMAN gamma-aminobutyric acid A receptor, alpha 6 381 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CTTTGCCAATAGTTTCATCTT 0.448 TCGA Ovarian(5;0.080) 39 163 --- --- --- --- PASS ADAMTS2 9509 broad.mit.edu 37 5 178541089 178541089 + Missense_Mutation SNP G C C TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr5:178541089G>C uc003mjw.2 - 22 3415 c.3415C>G c.(3415-3417)CCC>GCC p.P1139A uc003mjv.3_5'Flank NM_014244 NP_055059 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 1139 collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) ACCTCCAGGGGGGTGCTTGGT 0.572 31 153 --- --- --- --- PASS TRIM15 89870 broad.mit.edu 37 6 30131596 30131596 + Missense_Mutation SNP G C C TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr6:30131596G>C uc010jrx.2 + 1 614 c.135G>C c.(133-135)CAG>CAC p.Q45H TRIM10_uc003npn.2_5'Flank|TRIM10_uc003npo.3_5'Flank NM_033229 NP_150232 Q9C019 TRI15_HUMAN tripartite motif protein 15 45 RING-type. mesodermal cell fate determination intracellular zinc ion binding 0 CGCTCTCCCAGATGGGGGCCC 0.687 7 64 --- --- --- --- PASS HLA-DMB 3109 broad.mit.edu 37 6 32905234 32905234 + Splice_Site SNP C A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr6:32905234C>A uc003ocl.1 - 3 571 c.338_splice c.e3-1 p.R113_splice HLA-DMB_uc003ocj.1_3'UTR|HLA-DMB_uc003ock.1_5'Flank|HLA-DMB_uc010jud.1_Splice_Site|HLA-DMB_uc010jue.1_Splice_Site|HLA-DMB_uc010juf.1_Splice_Site|HLA-DMB_uc011dql.1_Intron NM_002118 NP_002109 P28068 DMB_HUMAN major histocompatibility complex, class II, DM antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex 0 GATGGTGGCCCTGCATAGGAG 0.493 25 143 --- --- --- --- PASS MAPK13 5603 broad.mit.edu 37 6 36103596 36103596 + Missense_Mutation SNP G C C TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr6:36103596G>C uc003ols.2 + 4 473 c.375G>C c.(373-375)GAG>GAC p.E125D MAPK13_uc003olt.2_RNA NM_002754 NP_002745 O15264 MK13_HUMAN mitogen-activated protein kinase 13 125 Protein kinase. cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress ATP binding|MAP kinase activity|protein binding breast(2)|central_nervous_system(1) 3 TCAGTGAGGAGAAGATCCAGT 0.552 23 109 --- --- --- --- PASS DNAH8 1769 broad.mit.edu 37 6 38793996 38793996 + Silent SNP G C C TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr6:38793996G>C uc003ooe.1 + 27 3861 c.3261G>C c.(3259-3261)CTG>CTC p.L1087L NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 GTCGATATCTGAATGAAGAAT 0.323 18 77 --- --- --- --- PASS BEND6 221336 broad.mit.edu 37 6 56857268 56857268 + Silent SNP C T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr6:56857268C>T uc010kab.2 + 3 799 c.213C>T c.(211-213)TGC>TGT p.C71C BEND6_uc003pdg.2_RNA NM_152731 NP_689944 Q5SZJ8 BEND6_HUMAN BEN domain containing 6 71 Potential. 0 AAGAATTGTGCGCCAAAATAA 0.413 11 211 --- --- --- --- PASS BAI3 577 broad.mit.edu 37 6 70037782 70037782 + Splice_Site SNP G T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr6:70037782G>T uc003pev.3 + 22 3483 c.3035_splice c.e22+1 p.Y1012_splice BAI3_uc010kak.2_Splice_Site_p.Y1012_splice|BAI3_uc011dxx.1_Splice_Site_p.Y218_splice|BAI3_uc003pex.1_Splice_Site_p.Y142_splice NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) CTGATCACTAGTAAGTCCATC 0.393 19 82 --- --- --- --- PASS FAM135A 57579 broad.mit.edu 37 6 71235668 71235668 + Missense_Mutation SNP A G G TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr6:71235668A>G uc003pfj.2 + 13 3014 c.2881A>G c.(2881-2883)ACA>GCA p.T961A FAM135A_uc003pfi.2_Missense_Mutation_p.T765A|FAM135A_uc003pfh.2_Missense_Mutation_p.T748A|FAM135A_uc003pfl.2_Missense_Mutation_p.T628A|FAM135A_uc003pfn.2_Missense_Mutation_p.T167A|FAM135A_uc003pfo.1_Missense_Mutation_p.T332A|FAM135A_uc010kan.1_5'Flank NM_001162529 NP_001156001 Q9P2D6 F135A_HUMAN hypothetical protein LOC57579 isoform c 961 central_nervous_system(1) 1 TAATAACTCTACAGGGACAGC 0.368 21 74 --- --- --- --- PASS GABRR2 2570 broad.mit.edu 37 6 89967576 89967576 + Missense_Mutation SNP T C C TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr6:89967576T>C uc003pnb.2 - 9 1294 c.1286A>G c.(1285-1287)CAA>CGA p.Q429R GABRR2_uc011dzx.1_Missense_Mutation_p.Q305R NM_002043 NP_002034 P28476 GBRR2_HUMAN gamma-aminobutyric acid (GABA) receptor, rho 2 429 Cytoplasmic (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity 0 all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0158) TATTTTGTCTTGCCTTTCTTC 0.517 7 73 --- --- --- --- PASS PRDM13 59336 broad.mit.edu 37 6 100061058 100061058 + Missense_Mutation SNP C A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr6:100061058C>A uc003pqg.1 + 4 808 c.547C>A c.(547-549)CCA>ACA p.P183T NM_021620 NP_067633 Q9H4Q3 PRD13_HUMAN PR domain containing 13 183 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0598) AGGCGCCGTCCCAGCGGCTGA 0.697 15 33 --- --- --- --- PASS VGLL2 245806 broad.mit.edu 37 6 117586987 117586987 + Missense_Mutation SNP G T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr6:117586987G>T uc003pxn.2 + 1 251 c.61G>T c.(61-63)GCC>TCC p.A21S VGLL2_uc003pxo.2_Missense_Mutation_p.A21S NM_182645 NP_872586 Q8N8G2 VGLL2_HUMAN vestigial-like 2 isoform 1 21 transcription, DNA-dependent nucleus central_nervous_system(1) 1 GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757) CTTCGCAGCCGCCTACACCCC 0.582 4 74 --- --- --- --- PASS LAMA2 3908 broad.mit.edu 37 6 129826502 129826502 + Splice_Site SNP T A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr6:129826502T>A uc003qbn.2 + 60 8808 c.8703_splice c.e60+2 p.P2901_splice LAMA2_uc003qbo.2_Splice_Site_p.P2897_splice|uc003qbq.2_Intron NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) ATTGGTCCAGTAAATATCTGA 0.383 28 97 --- --- --- --- PASS OPRM1 4988 broad.mit.edu 37 6 154412236 154412236 + Missense_Mutation SNP C T T rs17174822 by1000genomes TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr6:154412236C>T uc003qpr.2 + 3 1030 c.793C>T c.(793-795)CGC>TGC p.R265C OPRM1_uc011efc.1_Missense_Mutation_p.R184C|OPRM1_uc011efd.1_Missense_Mutation_p.R165C|OPRM1_uc011efe.1_Missense_Mutation_p.R358C|OPRM1_uc003qpn.2_Missense_Mutation_p.R265C|OPRM1_uc003qpo.1_Missense_Mutation_p.R265C|OPRM1_uc011eff.1_Missense_Mutation_p.R265C|OPRM1_uc011efg.1_Missense_Mutation_p.R265C|OPRM1_uc011efh.1_Missense_Mutation_p.R265C|OPRM1_uc003qpq.1_Missense_Mutation_p.R265C|OPRM1_uc003qpt.1_Missense_Mutation_p.R265C|OPRM1_uc011efi.1_Missense_Mutation_p.R265C|OPRM1_uc003qpp.2_RNA|OPRM1_uc003qps.2_RNA|OPRM1_uc010kjg.2_Missense_Mutation_p.R165C|OPRM1_uc003qpu.2_Missense_Mutation_p.R165C NM_000914 NP_000905 P35372 OPRM_HUMAN opioid receptor, mu 1 isoform MOR-1 265 Cytoplasmic (Potential). behavior|negative regulation of cell proliferation|sensory perception endoplasmic reticulum|Golgi apparatus|integral to plasma membrane mu-opioid receptor activity|protein binding ovary(1) 1 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154) Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193) CAAGAGTGTCCGCATGCTCTC 0.502 8 100 --- --- --- --- PASS IGF2R 3482 broad.mit.edu 37 6 160525834 160525834 + Silent SNP C T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr6:160525834C>T uc003qta.2 + 48 7342 c.7194C>T c.(7192-7194)GCC>GCT p.A2398A NM_000876 NP_000867 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor precursor 2398 Cytoplasmic (Potential). receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity ovary(3) 3 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) CAGTGAAAGCCCTCAGCTCCC 0.572 3 72 --- --- --- --- PASS PMS2 5395 broad.mit.edu 37 7 6026709 6026709 + Nonsense_Mutation SNP G A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr7:6026709G>A uc003spl.2 - 11 1774 c.1687C>T c.(1687-1689)CGA>TGA p.R563* PMS2_uc003spj.2_Nonsense_Mutation_p.R457*|PMS2_uc003spk.2_Nonsense_Mutation_p.R428*|PMS2_uc011jwl.1_Nonsense_Mutation_p.R428*|PMS2_uc010ktg.2_Nonsense_Mutation_p.R252*|PMS2_uc010kte.2_Intron|PMS2_uc010ktf.1_Intron NM_000535 NP_000526 P54278 PMS2_HUMAN PMS2 postmeiotic segregation increased 2 isoform 563 mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes MutLalpha complex ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding lung(1)|central_nervous_system(1) 2 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15) GGCAAAACTCGAAATTTACAT 0.408 Mis|N|F colorectal|endometrial|ovarian|medulloblastoma|glioma Direct_reversal_of_damage|MMR Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome 47 336 --- --- --- --- PASS RSBN1L 222194 broad.mit.edu 37 7 77325886 77325886 + Missense_Mutation SNP C T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr7:77325886C>T uc010ldt.1 + 1 144 c.100C>T c.(100-102)CGG>TGG p.R34W RSBN1L_uc003ugm.2_5'Flank|uc003ugj.1_RNA NM_198467 NP_940869 Q6PCB5 RSBNL_HUMAN round spermatid basic protein 1-like 34 nucleus ovary(1) 1 ACTCTCCTCCCGGGACCCTCC 0.667 19 68 --- --- --- --- PASS RSBN1L 222194 broad.mit.edu 37 7 77407731 77407731 + Nonsense_Mutation SNP C T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr7:77407731C>T uc010ldt.1 + 7 1914 c.1870C>T c.(1870-1872)CAG>TAG p.Q624* RSBN1L_uc003ugm.2_Nonsense_Mutation_p.Q406* NM_198467 NP_940869 Q6PCB5 RSBNL_HUMAN round spermatid basic protein 1-like 624 nucleus ovary(1) 1 TCAACGAATGCAGTTAGATTT 0.323 12 154 --- --- --- --- PASS PCLO 27445 broad.mit.edu 37 7 82584106 82584106 + Missense_Mutation SNP C T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr7:82584106C>T uc003uhx.2 - 5 6452 c.6163G>A c.(6163-6165)GAA>AAA p.E2055K PCLO_uc003uhv.2_Missense_Mutation_p.E2055K NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 1986 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 AGTTTCCTTTCTTCTTCTGTA 0.443 18 77 --- --- --- --- PASS PCLO 27445 broad.mit.edu 37 7 82784553 82784553 + Missense_Mutation SNP C A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr7:82784553C>A uc003uhx.2 - 2 1693 c.1404G>T c.(1402-1404)AAG>AAT p.K468N PCLO_uc003uhv.2_Missense_Mutation_p.K468N NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 419 Gln-rich.|Pro-rich.|10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 GTGAAGGAGGCTTTGTTGGGC 0.607 10 124 --- --- --- --- PASS CCDC132 55610 broad.mit.edu 37 7 92938172 92938172 + Missense_Mutation SNP G C C TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr7:92938172G>C uc003umo.2 + 19 1794 c.1666G>C c.(1666-1668)GAG>CAG p.E556Q CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.E526Q|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Missense_Mutation_p.E276Q NM_017667 NP_060137 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 isoform a 556 0 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) TGCCTATCAAGAGTATGACAG 0.403 6 101 --- --- --- --- PASS MUC17 140453 broad.mit.edu 37 7 100676942 100676942 + Silent SNP T C C rs71557224 TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr7:100676942T>C uc003uxp.1 + 3 2298 c.2245T>C c.(2245-2247)TTA>CTA p.L749L MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 749 Extracellular (Potential).|Ser-rich.|10.|59 X approximate tandem repeats. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) AAGCACTCCATTAACAAGTAT 0.488 13 394 --- --- --- --- PASS MUC17 140453 broad.mit.edu 37 7 100678647 100678647 + Missense_Mutation SNP C T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr7:100678647C>T uc003uxp.1 + 3 4003 c.3950C>T c.(3949-3951)TCA>TTA p.S1317L MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 1317 Extracellular (Potential).|20.|59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) GAAGTCAGTTCATCTCCTACA 0.488 53 305 --- --- --- --- PASS MUC17 140453 broad.mit.edu 37 7 100678759 100678759 + Silent SNP C T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr7:100678759C>T uc003uxp.1 + 3 4115 c.4062C>T c.(4060-4062)ATC>ATT p.I1354I MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 1354 Extracellular (Potential).|20.|59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) GTTCTGCAATCAGCATCCTTT 0.468 58 336 --- --- --- --- PASS ATXN7L1 222255 broad.mit.edu 37 7 105516986 105516986 + Missense_Mutation SNP G C C TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr7:105516986G>C uc003vde.2 - 1 46 c.19C>G c.(19-21)CGA>GGA p.R7G ATXN7L1_uc003vdi.2_Missense_Mutation_p.R7G|CDHR3_uc003vdk.2_5'Flank|uc003vdj.1_5'Flank NM_020725 NP_065776 Q9ULK2 AT7L1_HUMAN ataxin 7-like 1 isoform 1 7 0 CACGGGATTCGAGAACGCTCC 0.418 3 42 --- --- --- --- PASS PTN 5764 broad.mit.edu 37 7 136938275 136938275 + Silent SNP C T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr7:136938275C>T uc003vtq.2 - 3 588 c.225G>A c.(223-225)GAG>GAA p.E75E PTN_uc010lmx.2_Silent_p.E75E|PTN_uc003vtr.1_Silent_p.E75E NM_002825 NP_002816 P21246 PTN_HUMAN pleiotrophin 75 E -> G (in Ref. 9; AAV38498). nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway endoplasmic reticulum|extracellular space growth factor activity|heparin binding|protein phosphatase inhibitor activity p.E75Q(1) upper_aerodigestive_tract(1)|pancreas(1) 2 TTTGCTTGCACTCAGCTCCAG 0.537 13 90 --- --- --- --- PASS CNTNAP2 26047 broad.mit.edu 37 7 147259273 147259273 + Missense_Mutation SNP G C C TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr7:147259273G>C uc003weu.1 + 12 2337 c.1821G>C c.(1819-1821)CAG>CAC p.Q607H NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 607 Extracellular (Potential).|Fibrinogen C-terminal. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) ACCTAGGACAGACATCAAATT 0.428 HNSCC(39;0.1) 13 110 --- --- --- --- PASS EZH2 2146 broad.mit.edu 37 7 148515180 148515180 + Silent SNP G C C TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr7:148515180G>C uc003wfd.1 - 10 1180 c.1014C>G c.(1012-1014)CTC>CTG p.L338L EZH2_uc011kug.1_Silent_p.L329L|EZH2_uc003wfb.1_Silent_p.L343L|EZH2_uc003wfc.1_Silent_p.L299L|EZH2_uc011kuh.1_Silent_p.L329L|EZH2_uc011kui.1_Silent_p.L338L|EZH2_uc011kuj.1_RNA NM_004456 NP_004447 Q15910 EZH2_HUMAN enhancer of zeste 2 isoform a 338 Interaction with DNMT1, DNMT3A and DNMT3B. negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|histone-lysine N-methyltransferase activity|protein binding haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1) 183 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00239) GCTCAGCGGTGAGAGCAGCAG 0.478 Mis DLBCL 17 224 --- --- --- --- PASS UBXN8 7993 broad.mit.edu 37 8 30623805 30623805 + Silent SNP C A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr8:30623805C>A uc003xii.2 + 10 725 c.708C>A c.(706-708)TCC>TCA p.S236S UBXN8_uc010lvi.2_3'UTR|UBXN8_uc011lbb.1_RNA|UBXN8_uc003xij.2_RNA NM_005671 NP_005662 O00124 UBXN8_HUMAN reproduction 8 236 UBX. single fertilization 0 TTTCTACTTCCTTTCCCAGAC 0.473 4 66 --- --- --- --- PASS HTRA4 203100 broad.mit.edu 37 8 38832597 38832597 + Missense_Mutation SNP G A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr8:38832597G>A uc003xmj.2 + 2 629 c.514G>A c.(514-516)GCG>ACG p.A172T NM_153692 NP_710159 P83105 HTRA4_HUMAN HtrA serine peptidase 4 precursor 172 proteolysis|regulation of cell growth extracellular region insulin-like growth factor binding|serine-type endopeptidase activity 0 all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955) LUSC - Lung squamous cell carcinoma(45;1.5e-07) CTTCATCGCCGCGGTGGTGGA 0.567 13 869 --- --- --- --- PASS ADAM9 8754 broad.mit.edu 37 8 38880712 38880712 + Missense_Mutation SNP G C C TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr8:38880712G>C uc003xmr.2 + 9 860 c.782G>C c.(781-783)GGA>GCA p.G261A ADAM9_uc011lcf.1_RNA|ADAM9_uc011lcg.1_RNA|ADAM9_uc010lwr.2_RNA NM_003816 NP_003807 Q13443 ADAM9_HUMAN ADAM metallopeptidase domain 9 isoform 1 261 Extracellular (Potential).|Peptidase M12B. activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway extracellular space|extracellular space|integral to membrane|intrinsic to external side of plasma membrane collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153) LUSC - Lung squamous cell carcinoma(45;2.74e-07) GTGCTAGTTGGACTGGAGATT 0.373 81 735 --- --- --- --- PASS ADAM9 8754 broad.mit.edu 37 8 38880725 38880725 + Missense_Mutation SNP G C C TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr8:38880725G>C uc003xmr.2 + 9 873 c.795G>C c.(793-795)TGG>TGC p.W265C ADAM9_uc011lcf.1_RNA|ADAM9_uc011lcg.1_RNA|ADAM9_uc010lwr.2_RNA NM_003816 NP_003807 Q13443 ADAM9_HUMAN ADAM metallopeptidase domain 9 isoform 1 265 Extracellular (Potential).|Peptidase M12B. activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway extracellular space|extracellular space|integral to membrane|intrinsic to external side of plasma membrane collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153) LUSC - Lung squamous cell carcinoma(45;2.74e-07) TGGAGATTTGGACCAATGGAA 0.398 197 651 --- --- --- --- PASS ADAM9 8754 broad.mit.edu 37 8 38880818 38880818 + Silent SNP G C C TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr8:38880818G>C uc003xmr.2 + 9 966 c.888G>C c.(886-888)CGG>CGC p.R296R ADAM9_uc011lcf.1_RNA|ADAM9_uc011lcg.1_RNA|ADAM9_uc010lwr.2_RNA NM_003816 NP_003807 Q13443 ADAM9_HUMAN ADAM metallopeptidase domain 9 isoform 1 296 Extracellular (Potential).|Peptidase M12B. activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway extracellular space|extracellular space|integral to membrane|intrinsic to external side of plasma membrane collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153) LUSC - Lung squamous cell carcinoma(45;2.74e-07) TCACACGTCGGAGACATGACA 0.348 82 525 --- --- --- --- PASS IKBKB 3551 broad.mit.edu 37 8 42176941 42176941 + Splice_Site SNP T G G TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr8:42176941T>G uc003xow.1 + 14 1693 c.1516_splice c.e14+2 p.T506_splice IKBKB_uc010lxh.1_Missense_Mutation_p.S401R|IKBKB_uc011lco.1_Splice_Site|IKBKB_uc010lxj.1_Splice_Site_p.T283_splice|IKBKB_uc003xox.1_Splice_Site_p.T227_splice|IKBKB_uc011lcp.1_Splice_Site|IKBKB_uc011lcq.1_Splice_Site_p.T504_splice|IKBKB_uc010lxi.1_Splice_Site|IKBKB_uc011lcr.1_Splice_Site_p.T447_splice NM_001556 NP_001547 O14920 IKKB_HUMAN inhibitor of nuclear factor kappa B kinase beta anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft ATP binding|identical protein binding|IkappaB kinase activity breast(3)|ovary(2)|lung(1)|skin(1) 7 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264) Arsenic trioxide(DB01169)|Auranofin(DB00995) TTGGGATCAGTGAGTGTGCAC 0.393 OREG0018747 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 168 --- --- --- --- PASS RP1 6101 broad.mit.edu 37 8 55541754 55541754 + Missense_Mutation SNP C T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr8:55541754C>T uc003xsd.1 + 4 5460 c.5312C>T c.(5311-5313)TCA>TTA p.S1771L RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 1771 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GACACCACATCAGTGGACACC 0.438 5 75 --- --- --- --- PASS TRHR 7201 broad.mit.edu 37 8 110131549 110131549 + Nonsense_Mutation SNP C G G TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr8:110131549C>G uc003ymz.3 + 2 1078 c.1062C>G c.(1060-1062)TAC>TAG p.Y354* NM_003301 NP_003292 P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 354 Cytoplasmic (Potential). integral to plasma membrane thyrotropin-releasing hormone receptor activity skin(2)|lung(1) 3 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) CCCTAAATTACAGCGTCATCA 0.463 65 173 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113420573 113420573 + Missense_Mutation SNP G C C TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr8:113420573G>C uc003ynu.2 - 34 5738 c.5579C>G c.(5578-5580)GCT>GGT p.A1860G CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Missense_Mutation_p.A1820G|CSMD3_uc011lhx.1_Missense_Mutation_p.A1756G NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1860 Extracellular (Potential).|CUB 10. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 AAATCCCTTAGCTGTTATTGG 0.353 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 70 224 --- --- --- --- PASS COL14A1 7373 broad.mit.edu 37 8 121259908 121259908 + Missense_Mutation SNP C A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr8:121259908C>A uc003yox.2 + 21 2801 c.2536C>A c.(2536-2538)CGC>AGC p.R846S COL14A1_uc003yoy.2_Missense_Mutation_p.R524S NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor 846 Fibronectin type-III 7. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) TAACCGGTTGCGCATTACGTG 0.458 25 177 --- --- --- --- PASS ZNF623 9831 broad.mit.edu 37 8 144732358 144732358 + Missense_Mutation SNP C G G TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr8:144732358C>G uc003yzd.2 + 1 405 c.316C>G c.(316-318)CTG>GTG p.L106V ZNF623_uc011lkp.1_Missense_Mutation_p.L66V|ZNF623_uc003yzc.2_Missense_Mutation_p.L66V NM_014789 NP_055604 O75123 ZN623_HUMAN zinc finger protein 623 isoform 1 106 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-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;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) AAACCATATTCTGAATTCAGA 0.488 10 194 --- --- --- --- PASS RECQL4 9401 broad.mit.edu 37 8 145736871 145736871 + Silent SNP C G G TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr8:145736871C>G uc003zdj.2 - 22 3602 c.3570G>C c.(3568-3570)CTG>CTC p.L1190L NM_004260 NP_004251 O94761 RECQ4_HUMAN RecQ protein-like 4 1190 DNA duplex unwinding|DNA recombination|DNA repair cytoplasm|nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding breast(2)|lung(1)|skin(1) 4 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) CATGGAAGCTCAGGTGCAGGT 0.647 N|F|S osteosarcoma|skin basal and sqamous cell Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome 3 124 --- --- --- --- PASS DOCK8 81704 broad.mit.edu 37 9 340232 340232 + Silent SNP G C C TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr9:340232G>C uc003zgf.2 + 14 1702 c.1590G>C c.(1588-1590)GTG>GTC p.V530V DOCK8_uc011lls.1_Silent_p.V530V|DOCK8_uc010mgu.2_5'UTR|DOCK8_uc010mgv.2_Silent_p.V462V|DOCK8_uc003zgg.2_Silent_p.V462V|DOCK8_uc003zgh.2_RNA NM_203447 NP_982272 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 530 DHR-1. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3)|central_nervous_system(3) 6 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) TGCTGCCCGTGAAACCCTTTC 0.443 10 141 --- --- --- --- PASS PSIP1 11168 broad.mit.edu 37 9 15466839 15466839 + Missense_Mutation SNP C A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr9:15466839C>A uc003zlv.3 - 15 1769 c.1439G>T c.(1438-1440)GGA>GTA p.G480V PSIP1_uc003zlw.3_Missense_Mutation_p.G480V NM_033222 NP_150091 O75475 PSIP1_HUMAN PC4 and SFRS1 interacting protein 1 isoform 2 480 initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|nucleoplasm|transcriptionally active chromatin activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity breast(1) 1 GBM - Glioblastoma multiforme(50;2.38e-06) ATCAGATCCTCCATTTAGAGT 0.408 4 125 --- --- --- --- PASS CDKN2A 1029 broad.mit.edu 37 9 21971036 21971036 + Missense_Mutation SNP C T T rs121913381 TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr9:21971036C>T uc003zpk.2 - 2 534 c.322G>A c.(322-324)GAT>AAT p.D108N MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.R163Q NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 108 D -> Y (in a head and neck tumor).|D -> H (in a bladder tumor). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.D108Y(14)|p.?(13)|p.D108H(9)|p.D108N(5)|p.H83fs*2(2)|p.D105fs*8(1)|p.A68fs*3(1)|p.R107fs*33(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CCCCAGGCATCGCGCACGTCC 0.741 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 10 19 --- --- --- --- PASS CDC14B 8555 broad.mit.edu 37 9 99296825 99296825 + Splice_Site SNP C T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr9:99296825C>T uc004awj.2 - 8 1080 c.628_splice c.e8-1 p.K210_splice CDC14B_uc004awk.2_Splice_Site_p.K210_splice|CDC14B_uc004awl.2_Splice_Site|CDC14B_uc004awi.2_Splice_Site_p.K173_splice NM_033331 NP_201588 O60729 CC14B_HUMAN CDC14 homolog B isoform 2 activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint nucleolus|nucleoplasm protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(1) 1 Acute lymphoblastic leukemia(62;0.0559) TTTCTGCTTTCTGCAAGGGGA 0.398 12 61 --- --- --- --- PASS DDX31 64794 broad.mit.edu 37 9 135470306 135470306 + Nonsense_Mutation SNP T A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr9:135470306T>A uc004cbq.1 - 20 2655 c.2503A>T c.(2503-2505)AGA>TGA p.R835* DDX31_uc010mzu.1_Nonsense_Mutation_p.R762* NM_022779 NP_073616 Q9H8H2 DDX31_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 835 nucleolus ATP binding|ATP-dependent helicase activity|RNA binding central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05) TGGGTTTTTCTCCATTTTAAT 0.542 8 289 --- --- --- --- PASS C9orf167 54863 broad.mit.edu 37 9 140174066 140174066 + Missense_Mutation SNP C T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr9:140174066C>T uc004cmn.2 + 2 1042 c.925C>T c.(925-927)CGC>TGC p.R309C C9orf167_uc011mew.1_5'Flank NM_017723 NP_060193 Q9NXH8 CI167_HUMAN hypothetical protein LOC54863 309 chaperone mediated protein folding requiring cofactor integral to membrane ATP binding|nucleoside-triphosphatase activity pancreas(1) 1 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.137) OV - Ovarian serous cystadenocarcinoma(145;9.07e-05)|Epithelial(140;0.000728) CGAGGTCACGCGCTTCGTGCT 0.726 4 8 --- --- --- --- PASS LARP4B 23185 broad.mit.edu 37 10 860896 860896 + Missense_Mutation SNP G A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr10:860896G>A uc001ifs.1 - 15 1851 c.1810C>T c.(1810-1812)CAT>TAT p.H604Y NM_015155 NP_055970 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 604 nucleotide binding|RNA binding ovary(2)|central_nervous_system(1) 3 TCGGGTAAATGAGCTGGGGAG 0.532 11 121 --- --- --- --- PASS ITGA8 8516 broad.mit.edu 37 10 15686210 15686210 + Silent SNP G T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr10:15686210G>T uc001ioc.1 - 13 1218 c.1218C>A c.(1216-1218)ATC>ATA p.I406I ITGA8_uc010qcb.1_Silent_p.I391I NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 406 Extracellular (Potential).|FG-GAP 6. cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 AAGGCACTCCGATGGCAATGT 0.318 4 71 --- --- --- --- PASS ANUBL1 93550 broad.mit.edu 37 10 46121646 46121646 + Missense_Mutation SNP G A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr10:46121646G>A uc001jcp.3 - 7 1867 c.1625C>T c.(1624-1626)TCC>TTC p.S542F ANUBL1_uc001jcl.3_Missense_Mutation_p.S62F|ANUBL1_uc001jcm.3_Missense_Mutation_p.S542F|ANUBL1_uc009xmu.2_Missense_Mutation_p.S468F|ANUBL1_uc001jcn.3_Missense_Mutation_p.S468F|ANUBL1_uc001jco.3_Intron NM_001128324 NP_001121796 Q86XD8 ANUB1_HUMAN AN1, ubiquitin-like, homolog 542 zinc ion binding 0 CTCAACTTTGGAAATAACATC 0.398 32 197 --- --- --- --- PASS RTKN2 219790 broad.mit.edu 37 10 63959610 63959610 + Missense_Mutation SNP C A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr10:63959610C>A uc001jlw.2 - 11 1294 c.1197G>T c.(1195-1197)AAG>AAT p.K399N RTKN2_uc009xpf.1_Missense_Mutation_p.K201N|RTKN2_uc001jlv.2_Missense_Mutation_p.K53N NM_145307 NP_660350 Q8IZC4 RTKN2_HUMAN rhotekin 2 399 signal transduction intracellular 0 Prostate(12;0.0297)|all_hematologic(501;0.215) CACAACAGTGCTTCCATTGGC 0.333 21 118 --- --- --- --- PASS TECTB 6975 broad.mit.edu 37 10 114044304 114044304 + Missense_Mutation SNP G C C TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr10:114044304G>C uc001kzr.1 + 2 88 c.88G>C c.(88-90)GTG>CTG p.V30L NM_058222 NP_478129 Q96PL2 TECTB_HUMAN tectorin beta precursor 30 ZP. anchored to membrane|plasma membrane|proteinaceous extracellular matrix 0 Colorectal(252;0.198) Epithelial(162;0.0143)|all cancers(201;0.0242) TGTCATTCTTGTGTTTTGCTA 0.458 7 75 --- --- --- --- PASS ZNF195 7748 broad.mit.edu 37 11 3381028 3381028 + Missense_Mutation SNP C G G TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr11:3381028C>G uc001lxt.2 - 6 1388 c.1210G>C c.(1210-1212)GAG>CAG p.E404Q uc001lxr.2_5'Flank|ZNF195_uc001lxv.2_Missense_Mutation_p.E381Q|ZNF195_uc001lxs.2_Missense_Mutation_p.E332Q|ZNF195_uc010qxr.1_Missense_Mutation_p.E385Q|ZNF195_uc009ydz.2_Missense_Mutation_p.E359Q|ZNF195_uc001lxu.2_Missense_Mutation_p.E336Q NM_001130520 NP_001123992 O14628 ZN195_HUMAN zinc finger protein 195 isoform 1 404 Missing (in Ref. 2; BAD18466). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965) BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2) CCTCCAATCTCATTTCTCTGG 0.408 14 325 --- --- --- --- PASS OR51E2 81285 broad.mit.edu 37 11 4703778 4703778 + Missense_Mutation SNP T C C TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr11:4703778T>C uc001lzk.2 - 2 408 c.164A>G c.(163-165)CAC>CGC p.H55R NM_030774 NP_110401 Q9H255 O51E2_HUMAN olfactory receptor, family 51, subfamily E, 55 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity lung(3)|ovary(2) 5 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2) CATCGGAGCGTGCAGGCTGCG 0.517 30 98 --- --- --- --- PASS OR51I1 390063 broad.mit.edu 37 11 5462646 5462646 + Missense_Mutation SNP G C C TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr11:5462646G>C uc010qze.1 - 1 99 c.99C>G c.(97-99)TTC>TTG p.F33L HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001005288 NP_001005288 Q9H343 O51I1_HUMAN olfactory receptor, family 51, subfamily I, 33 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGAGGATGCAGAAAATCAGGG 0.527 13 132 --- --- --- --- PASS AMPD3 272 broad.mit.edu 37 11 10517157 10517157 + Missense_Mutation SNP C T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr11:10517157C>T uc001mio.1 + 9 1642 c.1307C>T c.(1306-1308)TCA>TTA p.S436L AMPD3_uc010rbz.1_Missense_Mutation_p.S277L|AMPD3_uc001min.1_Missense_Mutation_p.S445L|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Missense_Mutation_p.S443L|AMPD3_uc009yfy.2_Missense_Mutation_p.S436L NM_001025389 NP_001020560 Q01432 AMPD3_HUMAN adenosine monophosphate deaminase 3 isoform 1B 436 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) TACCAGTACTCAGAGCCACGG 0.602 11 60 --- --- --- --- PASS ELP4 26610 broad.mit.edu 37 11 31648666 31648666 + Silent SNP C A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr11:31648666C>A uc001mtb.2 + 6 698 c.663C>A c.(661-663)ACC>ACA p.T221T ELP4_uc001mta.1_RNA|ELP4_uc001mtc.2_Silent_p.T221T|ELP4_uc010rdz.1_Silent_p.T222T NM_019040 NP_061913 Q96EB1 ELP4_HUMAN elongation protein 4 homolog 221 histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding upper_aerodigestive_tract(1)|ovary(1)|prostate(1) 3 Lung SC(675;0.225) GTTCTTTGACCCCTGGCTACA 0.318 17 116 --- --- --- --- PASS DEPDC7 91614 broad.mit.edu 37 11 33053045 33053045 + Silent SNP C T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr11:33053045C>T uc001mub.2 + 5 996 c.904C>T c.(904-906)CTG>TTG p.L302L DEPDC7_uc001muc.2_Silent_p.L293L NM_001077242 NP_001070710 Q96QD5 DEPD7_HUMAN novel 58.3 KDA protein isoform 1 302 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(1)|skin(1) 2 GAAAGAACTTCTGTTTGATGC 0.398 19 114 --- --- --- --- PASS ZFP91 80829 broad.mit.edu 37 11 58385039 58385039 + Silent SNP C A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr11:58385039C>A uc001nmx.3 + 11 1741 c.1573C>A c.(1573-1575)CGG>AGG p.R525R ZFP91_uc001nmy.3_Silent_p.R524R|ZFP91-CNTF_uc010rkm.1_RNA NM_053023 NP_444251 Q96JP5 ZFP91_HUMAN zinc finger protein 91 525 activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination nucleus nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) TGGGACGGAACGGGTGAGCCT 0.423 3 100 --- --- --- --- PASS ORAOV1 220064 broad.mit.edu 37 11 69482722 69482722 + Missense_Mutation SNP C T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr11:69482722C>T uc001opc.2 - 4 444 c.286G>A c.(286-288)GAC>AAC p.D96N ORAOV1_uc010rqi.1_Missense_Mutation_p.D96N|ORAOV1_uc009ysm.2_RNA|ORAOV1_uc001opd.2_Missense_Mutation_p.D37N NM_153451 NP_703152 Q8WV07 ORAV1_HUMAN oral cancer overexpressed 1 96 0 all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348) Epithelial(3;5.64e-57)|all cancers(3;5.98e-51)|BRCA - Breast invasive adenocarcinoma(2;5.49e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537) TAAGTAGGGTCATCATAAGGG 0.413 20 100 --- --- --- --- PASS ODZ4 26011 broad.mit.edu 37 11 78369355 78369355 + Missense_Mutation SNP C G G TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr11:78369355C>G uc001ozl.3 - 34 8521 c.8058G>C c.(8056-8058)GAG>GAC p.E2686D ODZ4_uc001ozk.3_Missense_Mutation_p.E911D|ODZ4_uc009yvb.1_Intron NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 2686 Extracellular (Potential). signal transduction integral to membrane ovary(2)|pancreas(2) 4 CCCGTGCCTTCTCCTCATCCA 0.632 6 21 --- --- --- --- PASS TMEM135 65084 broad.mit.edu 37 11 87025542 87025542 + Missense_Mutation SNP T C C TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr11:87025542T>C uc001pch.2 + 12 1053 c.1030T>C c.(1030-1032)TAT>CAT p.Y344H TMEM135_uc010rtt.1_Missense_Mutation_p.Y205H|TMEM135_uc001pci.2_Missense_Mutation_p.Y322H NM_022918 NP_075069 Q86UB9 TM135_HUMAN transmembrane protein 135 344 Helical; (Potential). integral to membrane 0 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) AATGATGTTTTATAAAAGCAC 0.303 17 80 --- --- --- --- PASS BUD13 84811 broad.mit.edu 37 11 116633646 116633646 + Missense_Mutation SNP T C C TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr11:116633646T>C uc001ppn.2 - 4 693 c.659A>G c.(658-660)CAT>CGT p.H220R BUD13_uc001ppo.2_Intron|BUD13_uc009yzc.2_Missense_Mutation_p.H220R NM_032725 NP_116114 Q9BRD0 BUD13_HUMAN BUD13 homolog isoform 1 220 Arg-rich. large_intestine(1)|pancreas(1) 2 all_hematologic(175;0.0487) all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154) TGGTGAATCATGACGGACTCT 0.547 55 171 --- --- --- --- PASS CEP164 22897 broad.mit.edu 37 11 117244507 117244507 + Nonsense_Mutation SNP C G G TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr11:117244507C>G uc001prc.2 + 10 1340 c.1193C>G c.(1192-1194)TCA>TGA p.S398* CEP164_uc001prb.2_Nonsense_Mutation_p.S398*|CEP164_uc010rxk.1_Nonsense_Mutation_p.S372*|CEP164_uc001prf.2_RNA|CEP164_uc009yzp.1_RNA NM_014956 NP_055771 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 398 cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis centriole|cytosol|nucleus ovary(1)|central_nervous_system(1) 2 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) CCACAGCTCTCAGACTCCATA 0.383 10 123 --- --- --- --- PASS CEP164 22897 broad.mit.edu 37 11 117244538 117244538 + Silent SNP C T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr11:117244538C>T uc001prc.2 + 10 1371 c.1224C>T c.(1222-1224)TTC>TTT p.F408F CEP164_uc001prb.2_Silent_p.F408F|CEP164_uc010rxk.1_Silent_p.F382F|CEP164_uc001prf.2_RNA|CEP164_uc009yzp.1_RNA NM_014956 NP_055771 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 408 cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis centriole|cytosol|nucleus ovary(1)|central_nervous_system(1) 2 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) CCAAGTCCTTCCATGGCCTGG 0.303 7 87 --- --- --- --- PASS PVRL1 5818 broad.mit.edu 37 11 119545974 119545974 + Missense_Mutation SNP G A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr11:119545974G>A uc001pwv.2 - 5 1070 c.898C>T c.(898-900)CTC>TTC p.L300F PVRL1_uc001pwu.1_Missense_Mutation_p.L300F|PVRL1_uc001pww.2_Missense_Mutation_p.L300F NM_002855 NP_002846 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 isoform 1 300 Extracellular (Potential).|Ig-like C2-type 2. adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity 0 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) TTGAAGAAGAGGGTTCTGTTC 0.567 15 86 --- --- --- --- PASS OR8A1 390275 broad.mit.edu 37 11 124440462 124440462 + Silent SNP C T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr11:124440462C>T uc010san.1 + 1 498 c.498C>T c.(496-498)TAC>TAT p.Y166Y NM_001005194 NP_001005194 Q8NGG7 OR8A1_HUMAN olfactory receptor, family 8, subfamily A, 166 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214) CTGTGGTCTACGCCATCGGAC 0.507 15 64 --- --- --- --- PASS C3AR1 719 broad.mit.edu 37 12 8211896 8211896 + Silent SNP G A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr12:8211896G>A uc001qtv.1 - 2 978 c.886C>T c.(886-888)CTG>TTG p.L296L NM_004054 NP_004045 Q16581 C3AR_HUMAN complement component 3a receptor 1 296 Extracellular (Potential). blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response integral to plasma membrane C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity ovary(1) 1 Kidney(36;0.0893) CTAGGGAACAGCTTTAAATGA 0.433 4 128 --- --- --- --- PASS A2M 2 broad.mit.edu 37 12 9221440 9221440 + Splice_Site SNP T C C TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr12:9221440T>C uc001qvk.1 - 34 4377 c.4264_splice c.e34-1 p.V1422_splice A2M_uc001qvj.1_Splice_Site_p.V464_splice|A2M_uc009zgk.1_Splice_Site_p.V1272_splice NM_000014 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin precursor blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding central_nervous_system(4)|skin(1) 5 Bacitracin(DB00626)|Becaplermin(DB00102) ATTTGACACCTGGAAAGCAAA 0.383 10 17 --- --- --- --- PASS CLEC12B 387837 broad.mit.edu 37 12 10167165 10167165 + Silent SNP G A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr12:10167165G>A uc001qwz.2 + 3 362 c.234G>A c.(232-234)TTG>TTA p.L78L CLEC12B_uc001qwx.1_Silent_p.L78L|CLEC12B_uc001qwy.1_5'UTR|CLEC12B_uc009zhe.2_RNA NM_001129998 NP_001123470 Q2HXU8 CL12B_HUMAN C-type lectin domain family 12, member B isoform 78 Extracellular (Potential). integral to membrane|plasma membrane receptor activity|sugar binding 0 CAGAGAAATTGAGTCAACTTC 0.388 5 80 --- --- --- --- PASS PRB3 5544 broad.mit.edu 37 12 11420897 11420897 + Missense_Mutation SNP G A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr12:11420897G>A uc001qzs.2 - 3 324 c.286C>T c.(286-288)CCG>TCG p.P96S PRB4_uc001qzf.1_Intron NM_006249 NP_006240 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 96 10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.|3. extracellular region Gram-negative bacterial cell surface binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(49;0.201) GGCTTTCCCGGACGAGGTGGG 0.617 47 706 --- --- --- --- PASS MAP3K12 7786 broad.mit.edu 37 12 53877249 53877249 + Silent SNP C G G TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr12:53877249C>G uc001sdm.1 - 11 1496 c.1398G>C c.(1396-1398)CGG>CGC p.R466R MAP3K12_uc001sdn.1_Silent_p.R499R NM_006301 NP_006292 Q12852 M3K12_HUMAN mitogen-activated protein kinase kinase kinase 466 histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding lung(2)|ovary(1)|breast(1)|skin(1) 5 CTGGGCACCTCCGCTCTAAAG 0.567 10 119 --- --- --- --- PASS MAP3K12 7786 broad.mit.edu 37 12 53877268 53877268 + Missense_Mutation SNP C T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr12:53877268C>T uc001sdm.1 - 11 1477 c.1379G>A c.(1378-1380)CGA>CAA p.R460Q MAP3K12_uc001sdn.1_Missense_Mutation_p.R493Q NM_006301 NP_006292 Q12852 M3K12_HUMAN mitogen-activated protein kinase kinase kinase 460 Leucine-zipper 2. histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding lung(2)|ovary(1)|breast(1)|skin(1) 5 AGCTTGCTCTCGCCTAAAGAT 0.582 6 122 --- --- --- --- PASS RDH16 8608 broad.mit.edu 37 12 57348692 57348692 + Silent SNP G C C TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr12:57348692G>C uc001smi.3 - 2 742 c.570C>G c.(568-570)CTC>CTG p.L190L RDH16_uc009zpa.2_Intron NM_003708 NP_003699 O75452 RDH16_HUMAN retinol dehydrogenase 16 190 Cytoplasmic (Potential). lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome binding|electron carrier activity|retinol dehydrogenase activity 0 ACCCATACCTGAGGGAGTCAG 0.567 3 58 --- --- --- --- PASS LTA4H 4048 broad.mit.edu 37 12 96415995 96415995 + Missense_Mutation SNP C A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr12:96415995C>A uc001ten.1 - 5 583 c.515G>T c.(514-516)AGT>ATT p.S172I LTA4H_uc010suy.1_Missense_Mutation_p.S134I|LTA4H_uc010suz.1_Missense_Mutation_p.S134I|LTA4H_uc010sva.1_RNA NM_000895 NP_000886 P09960 LKHA4_HUMAN leukotriene A4 hydrolase 172 hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis cytosol|nucleus aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding haematopoietic_and_lymphoid_tissue(1) 1 ACGAATAGCACTCATAAGTGC 0.363 3 97 --- --- --- --- PASS KNTC1 9735 broad.mit.edu 37 12 123042029 123042029 + Silent SNP C T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr12:123042029C>T uc001ucv.2 + 17 1534 c.1371C>T c.(1369-1371)GAC>GAT p.D457D KNTC1_uc010taf.1_Silent_p.D420D NM_014708 NP_055523 P50748 KNTC1_HUMAN Rough Deal homolog, centromere/kinetochore 457 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding ovary(5)|kidney(3)|lung(1)|central_nervous_system(1) 10 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) TTGTAGACGACGCTAAGGAAA 0.393 6 69 --- --- --- --- PASS TNFRSF19 55504 broad.mit.edu 37 13 24190102 24190102 + Missense_Mutation SNP C G G TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr13:24190102C>G uc001uov.1 + 4 341 c.277C>G c.(277-279)CTG>GTG p.L93V TNFRSF19_uc001uot.2_Missense_Mutation_p.L93V|TNFRSF19_uc010tcu.1_5'UTR|TNFRSF19_uc001uow.2_Missense_Mutation_p.L93V NM_018647 NP_061117 Q9NS68 TNR19_HUMAN tumor necrosis factor receptor superfamily, 93 TNFR-Cys 2.|Extracellular (Potential). apoptosis|induction of apoptosis|JNK cascade integral to membrane|mitochondrion tumor necrosis factor receptor activity kidney(1)|skin(1) 2 all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19) CAAGCCCTGTCTGGACTGCGC 0.572 9 123 --- --- --- --- PASS DIAPH3 81624 broad.mit.edu 37 13 60667807 60667807 + Missense_Mutation SNP G C C TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr13:60667807G>C uc001vht.2 - 4 669 c.450C>G c.(448-450)ATC>ATG p.I150M DIAPH3_uc001vhw.1_Missense_Mutation_p.I139M|DIAPH3_uc010aed.1_Intron|DIAPH3_uc010aee.1_Missense_Mutation_p.I80M NM_001042517 NP_001035982 Q9NSV4 DIAP3_HUMAN diaphanous homolog 3 isoform a 150 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2) 2 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) TTTCTTTTTTGATACTGAAGT 0.318 3 86 --- --- --- --- PASS TMTC4 84899 broad.mit.edu 37 13 101316528 101316528 + Silent SNP C A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr13:101316528C>A uc001vou.2 - 3 385 c.225G>T c.(223-225)CTG>CTT p.L75L TMTC4_uc001vot.2_Silent_p.L94L|TMTC4_uc010tja.1_Intron NM_001079669 NP_001073137 Q5T4D3 TMTC4_HUMAN transmembrane and tetratricopeptide repeat 75 integral to membrane binding ovary(2)|breast(1) 3 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TGTTGCTGCTCAGTCTACTGC 0.582 4 31 --- --- --- --- PASS POTEG 404785 broad.mit.edu 37 14 19566062 19566062 + Missense_Mutation SNP C A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr14:19566062C>A uc001vuz.1 + 6 1158 c.1106C>A c.(1105-1107)TCT>TAT p.S369Y POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA|uc001vvb.2_Intron NM_001005356 NP_001005356 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 369 ovary(1) 1 CTAAAAGTCTCTTCTGAAAAC 0.214 11 537 --- --- --- --- PASS OR6S1 341799 broad.mit.edu 37 14 21109188 21109188 + Nonsense_Mutation SNP G T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr14:21109188G>T uc001vxv.1 - 1 663 c.663C>A c.(661-663)TAC>TAA p.Y221* NM_001001968 NP_001001968 Q8NH40 OR6S1_HUMAN olfactory receptor, family 6, subfamily S, 221 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(95;0.00304) Epithelial(56;1.23e-06)|all cancers(55;1.01e-05) GBM - Glioblastoma multiforme(265;0.0135) CAATGAGGCCGTAGGACACAG 0.557 9 129 --- --- --- --- PASS OR10G2 26534 broad.mit.edu 37 14 22102926 22102926 + Missense_Mutation SNP G T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr14:22102926G>T uc010tmc.1 - 1 73 c.73C>A c.(73-75)CCA>ACA p.P25T NM_001005466 NP_001005466 Q8NGC3 O10G2_HUMAN olfactory receptor, family 10, subfamily G, 25 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0142) CTTAGATTTGGGGGGTGAGAC 0.478 23 134 --- --- --- --- PASS PSMB11 122706 broad.mit.edu 37 14 23512009 23512009 + Missense_Mutation SNP A T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr14:23512009A>T uc010ake.1 + 1 634 c.575A>T c.(574-576)TAT>TTT p.Y192F NM_001099780 NP_001093250 A5LHX3 PSB11_HUMAN proteasome beta 11 subunit precursor 192 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity 0 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00643) GACCGTGGCTATCGCTACGAC 0.627 19 61 --- --- --- --- PASS C14orf104 55172 broad.mit.edu 37 14 50092567 50092567 + Missense_Mutation SNP G A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr14:50092567G>A uc001wws.3 - 3 2288 c.2207C>T c.(2206-2208)TCT>TTT p.S736F SDCCAG1_uc010anj.1_Intron|C14orf104_uc001wwt.3_Missense_Mutation_p.S688F NM_018139 NP_060609 Q9NVR5 KTU_HUMAN kintoun isoform 1 736 axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility cytoplasm 0 all_epithelial(31;0.0021)|Breast(41;0.0124) TATCATTTGAGAAACATCAAG 0.328 Kartagener_syndrome 11 95 --- --- --- --- PASS DLGAP5 9787 broad.mit.edu 37 14 55618609 55618609 + Missense_Mutation SNP C A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr14:55618609C>A uc001xbs.2 - 17 2389 c.2172G>T c.(2170-2172)ATG>ATT p.M724I DLGAP5_uc001xbt.2_Missense_Mutation_p.M724I NM_014750 NP_055565 Q15398 DLGP5_HUMAN discs large homolog 7 isoform a 724 cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition nucleus|spindle pole centrosome phosphoprotein phosphatase activity|protein binding ovary(1)|skin(1) 2 GAGGCAAACTCATTCTCTCAC 0.328 27 100 --- --- --- --- PASS GALNTL1 57452 broad.mit.edu 37 14 69799873 69799873 + Missense_Mutation SNP A G G TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr14:69799873A>G uc010aqu.1 + 8 943 c.850A>G c.(850-852)ACC>GCC p.T284A GALNTL1_uc001xla.1_Missense_Mutation_p.T284A|GALNTL1_uc001xlb.1_Missense_Mutation_p.T284A NM_020692 NP_065743 Q8N428 GLTL1_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 284 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(1)|central_nervous_system(1) 2 all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656) GACAGACCCCACCAGGCCCAT 0.617 18 76 --- --- --- --- PASS PSEN1 5663 broad.mit.edu 37 14 73685865 73685865 + Silent SNP C T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr14:73685865C>T uc001xnr.2 + 12 1556 c.1272C>T c.(1270-1272)CTC>CTT p.L424L PSEN1_uc001xnv.2_Silent_p.L420L|PSEN1_uc010ark.2_Silent_p.L420L|PSEN1_uc001xnu.2_RNA NM_000021 NP_000012 P49768 PSN1_HUMAN presenilin 1 isoform I-467 424 Required for interaction with CTNNB1.|Poly-Leu.|Helical; (Potential). amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding breast(1)|kidney(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075) CATTATTACTCCTTGCCATTT 0.398 30 377 --- --- --- --- PASS C14orf118 55668 broad.mit.edu 37 14 76633045 76633045 + Silent SNP C G G TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr14:76633045C>G uc001xsh.2 + 3 788 c.702C>G c.(700-702)CTC>CTG p.L234L C14orf118_uc001xsi.2_Silent_p.L234L|C14orf118_uc001xsj.1_Silent_p.L234L|C14orf118_uc001xsk.1_Silent_p.L234L|C14orf118_uc001xsl.2_RNA NM_017926 NP_060396 Q9NWQ4 CN118_HUMAN hypothetical protein LOC55668 isoform 1 234 ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.0172) ACACTGGGCTCTTTACCAATG 0.428 9 48 --- --- --- --- PASS DICER1 23405 broad.mit.edu 37 14 95590807 95590807 + Missense_Mutation SNP G C C TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr14:95590807G>C uc001ydw.2 - 9 1284 c.1102C>G c.(1102-1104)CTT>GTT p.L368V DICER1_uc001ydv.2_Missense_Mutation_p.L358V|DICER1_uc001ydx.2_Missense_Mutation_p.L368V NM_030621 NP_085124 Q9UPY3 DICER_HUMAN dicer1 368 Required for interaction with PRKRA and TARBP2. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity skin(2)|ovary(1)|pancreas(1)|lung(1) 5 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) TTCAGGTCAAGTGAGGCAGGT 0.393 Mis F|N pleuropulmonary blastoma DICER_1_syndrome_|Familial_Multinodular_Goiter_ 30 229 --- --- --- --- PASS VPS39 23339 broad.mit.edu 37 15 42453899 42453899 + Missense_Mutation SNP T C C TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr15:42453899T>C uc001zpd.2 - 25 2717 c.2566A>G c.(2566-2568)AAG>GAG p.K856E VPS39_uc001zpc.2_Missense_Mutation_p.K845E|VPS39_uc001zpb.2_Missense_Mutation_p.K191E NM_015289 NP_056104 Q96JC1 VPS39_HUMAN vacuolar protein sorting 39 856 protein transport HOPS complex|late endosome membrane|lysosomal membrane small GTPase regulator activity ovary(1)|pancreas(1)|skin(1) 3 all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;3.05e-06) ATCTTCTTCTTACACACCATG 0.527 13 324 --- --- --- --- PASS MAP1A 4130 broad.mit.edu 37 15 43817909 43817909 + Missense_Mutation SNP G A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr15:43817909G>A uc001zrt.2 + 4 4705 c.4238G>A c.(4237-4239)AGA>AAA p.R1413K NM_002373 NP_002364 P78559 MAP1A_HUMAN microtubule-associated protein 1A 1413 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(3)|breast(3)|pancreas(2)|skin(1) 9 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) CAAAAGGGCAGAGACTTAGAG 0.453 4 102 --- --- --- --- PASS MYO5C 55930 broad.mit.edu 37 15 52510865 52510865 + Missense_Mutation SNP C G G TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr15:52510865C>G uc010bff.2 - 32 3942 c.3805G>C c.(3805-3807)GAA>CAA p.E1269Q MYO5C_uc010uga.1_RNA NM_018728 NP_061198 Q9NQX4 MYO5C_HUMAN myosin VC 1269 Potential. myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2) 14 all cancers(107;0.0137) GTATGTATTTCATTTTGGGCT 0.433 18 56 --- --- --- --- PASS UNC13C 440279 broad.mit.edu 37 15 54793157 54793157 + Nonsense_Mutation SNP T A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr15:54793157T>A uc002ack.2 + 20 5282 c.5282T>A c.(5281-5283)TTA>TAA p.L1761* NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 1761 MHD1. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TTATCTCACTTAATGAGAAGA 0.368 37 159 --- --- --- --- PASS MYO9A 4649 broad.mit.edu 37 15 72338400 72338400 + Missense_Mutation SNP G A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr15:72338400G>A uc002atl.3 - 2 978 c.505C>T c.(505-507)CGC>TGC p.R169C MYO9A_uc010biq.2_Intron|MYO9A_uc002ato.2_Missense_Mutation_p.R169C|MYO9A_uc002atn.1_Missense_Mutation_p.R169C NM_006901 NP_008832 B2RTY4 MYO9A_HUMAN myosin IXA 169 Myosin head-like 1. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity ovary(1)|pancreas(1)|skin(1) 3 TGCTTAAAGCGATTTCGTAGG 0.328 10 99 --- --- --- --- PASS C15orf27 123591 broad.mit.edu 37 15 76452464 76452464 + Silent SNP G A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr15:76452464G>A uc002bbq.2 + 5 566 c.411G>A c.(409-411)GTG>GTA p.V137V C15orf27_uc010bkp.2_5'UTR|C15orf27_uc002bbr.2_5'UTR NM_152335 NP_689548 Q2M3C6 CO027_HUMAN hypothetical protein LOC123591 137 Helical; (Potential). integral to membrane 0 TTGCTGGCGTGATTCACTGGA 0.537 22 281 --- --- --- --- PASS SLC28A1 9154 broad.mit.edu 37 15 85487987 85487987 + Missense_Mutation SNP G T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr15:85487987G>T uc002blg.2 + 18 1965 c.1763G>T c.(1762-1764)GGG>GTG p.G588V SLC28A1_uc010bnb.2_Missense_Mutation_p.G588V|SLC28A1_uc010upe.1_Missense_Mutation_p.G422V|SLC28A1_uc010upf.1_Missense_Mutation_p.G588V|SLC28A1_uc010upg.1_Intron NM_004213 NP_004204 O00337 S28A1_HUMAN solute carrier family 28, member 1 isoform 1 588 Helical; (Potential). nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding skin(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(143;0.0587) CCCTCTACAGGGATCCTCTAC 0.597 18 104 --- --- --- --- PASS PALB2 79728 broad.mit.edu 37 16 23614875 23614875 + Missense_Mutation SNP C G G TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr16:23614875C>G uc002dlx.1 - 13 3666 c.3466G>C c.(3466-3468)GAC>CAC p.D1156H NM_024675 NP_078951 Q86YC2 PALB2_HUMAN partner and localizer of BRCA2 1156 Interaction with RAD51 and BRCA2.|WD 7. double-strand break repair via homologous recombination nucleoplasm DNA binding|protein binding lung(3)|breast(3)|ovary(2)|skin(1)|kidney(1)|pancreas(1) 11 GBM - Glioblastoma multiforme(48;0.0167) CAATGTTGGTCAGAGACAGGT 0.438 F|N|Mis Wilms tumor|medulloblastoma|AML ,breast Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia_type_N|Fanconi_Anemia|PALB2-associated_Familial_Breast_and_Pancreatic_Cancer|Pancreatic_Cancer_Familial_Clustering_of 14 147 --- --- --- --- PASS ARL2BP 23568 broad.mit.edu 37 16 57282555 57282555 + Nonsense_Mutation SNP C A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr16:57282555C>A uc002elf.1 + 3 449 c.207C>A c.(205-207)TAC>TAA p.Y69* ARL2BP_uc010ccy.1_RNA|ARL2BP_uc010vhl.1_Nonsense_Mutation_p.Y69* NM_012106 NP_036238 Q9Y2Y0 AR2BP_HUMAN binder of Arl Two 69 maintenance of protein location in nucleus|positive regulation of tyrosine phosphorylation of Stat3 protein|signal transduction centrosome|midbody|mitochondrial intermembrane space|nucleus|spindle protein binding|small GTPase regulator activity|transcription coactivator activity 0 TTAATGAATACGTAAGTAGAT 0.318 4 127 --- --- --- --- PASS KATNB1 10300 broad.mit.edu 37 16 57778365 57778365 + Silent SNP C G G TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr16:57778365C>G uc002eml.1 + 4 605 c.231C>G c.(229-231)CTC>CTG p.L77L NM_005886 NP_005877 Q9BVA0 KTNB1_HUMAN katanin p80 subunit B 1 77 WD 2.|Interaction with centrosomes.|Interaction with dynein (By similarity). cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting katanin complex|microtubule|spindle pole microtubule binding|protein heterodimerization activity 0 all_neural(199;0.223) CCGAGGAGCTCATCGTGGCCG 0.642 10 115 --- --- --- --- PASS CA5A 763 broad.mit.edu 37 16 87960375 87960375 + Missense_Mutation SNP C T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr16:87960375C>T uc002fkn.1 - 2 375 c.319G>A c.(319-321)GAC>AAC p.D107N NM_001739 NP_001730 P35218 CAH5A_HUMAN carbonic anhydrase VA, mitochondrial precursor 107 one-carbon metabolic process mitochondrial matrix carbonate dehydratase activity|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(80;0.0513) GTGGCATCGTCAAATTCCACC 0.592 16 67 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7577105 7577105 + Missense_Mutation SNP G A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr17:7577105G>A uc002gim.2 - 8 1027 c.833C>T c.(832-834)CCT>CTT p.P278L TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.P278L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.P146L|TP53_uc010cng.1_Missense_Mutation_p.P146L|TP53_uc002gii.1_Missense_Mutation_p.P146L|TP53_uc010cnh.1_Missense_Mutation_p.P278L|TP53_uc010cni.1_Missense_Mutation_p.P278L|TP53_uc002gij.2_Missense_Mutation_p.P278L NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 278 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.P278L(52)|p.P278S(48)|p.P278R(26)|p.P278T(21)|p.P278A(17)|p.P278H(11)|p.0?(7)|p.P278fs*67(5)|p.P278F(3)|p.P278fs*28(2)|p.?(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.V274_P278del(1)|p.P278P(1)|p.C277_P278insXXXXXXX(1)|p.F270_D281del12(1)|p.P278_G279insXXXXX(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275fs*20(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GTCTCTCCCAGGACAGGCACA 0.552 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 5 46 --- --- --- --- PASS DNAH2 146754 broad.mit.edu 37 17 7678290 7678290 + Missense_Mutation SNP A T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr17:7678290A>T uc002giu.1 + 28 4729 c.4715A>T c.(4714-4716)CAG>CTG p.Q1572L NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 1572 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) CTGAGAATCCAGAAGGTCAGT 0.537 12 66 --- --- --- --- PASS GLP2R 9340 broad.mit.edu 37 17 9792918 9792918 + Missense_Mutation SNP G T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr17:9792918G>T uc002gmd.1 + 13 1558 c.1558G>T c.(1558-1560)GAC>TAC p.D520Y NM_004246 NP_004237 O95838 GLP2R_HUMAN glucagon-like peptide 2 receptor precursor 520 Cytoplasmic (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation integral to membrane|plasma membrane lung(2)|ovary(1) 3 Glucagon recombinant(DB00040) GCCCCAACAGGACCATGCACG 0.622 4 37 --- --- --- --- PASS MYH13 8735 broad.mit.edu 37 17 10216513 10216513 + Silent SNP C T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr17:10216513C>T uc002gmk.1 - 30 4233 c.4143G>A c.(4141-4143)ACG>ACA p.T1381T NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 1381 Potential. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 GAATGGCGTCCGTCTCGTATT 0.627 7 211 --- --- --- --- PASS RAI1 10743 broad.mit.edu 37 17 17701460 17701460 + Missense_Mutation SNP C T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr17:17701460C>T uc002grm.2 + 3 5667 c.5198C>T c.(5197-5199)TCG>TTG p.S1733L RAI1_uc002grn.1_Missense_Mutation_p.S1733L NM_030665 NP_109590 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 1733 cytoplasm|nucleus zinc ion binding central_nervous_system(1)|skin(1) 2 READ - Rectum adenocarcinoma(1115;0.0276) GAGGAGGCCTCGCTGCCGCTT 0.642 6 55 --- --- --- --- PASS KIAA0100 9703 broad.mit.edu 37 17 26942236 26942236 + Missense_Mutation SNP G C C TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr17:26942236G>C uc002hbu.2 - 39 6653 c.6554C>G c.(6553-6555)TCT>TGT p.S2185C SGK494_uc010waq.1_5'Flank|SGK494_uc010war.1_5'Flank|SGK494_uc002hbr.1_5'Flank|uc002hbs.1_Intron|KIAA0100_uc002hbt.2_Missense_Mutation_p.S514C NM_014680 NP_055495 Q14667 K0100_HUMAN hypothetical protein LOC9703 precursor 2185 S -> P (in Ref. 8; AAQ93061). extracellular region ovary(2)|breast(1)|skin(1) 4 Lung NSC(42;0.00431) GCCTGTTGCAGACTTCAGCCT 0.448 5 113 --- --- --- --- PASS CCL14 6358 broad.mit.edu 37 17 34311404 34311404 + Missense_Mutation SNP G C C TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr17:34311404G>C uc010wcr.1 - 2 243 c.164C>G c.(163-165)ACC>AGC p.T55S CCL16_uc002hkl.2_5'Flank|CCL16_uc002hkm.2_5'Flank|CCL14_uc010wcq.1_Missense_Mutation_p.T71S|CCL14_uc002hkn.2_RNA|CCL14-CCL15_uc010wcs.1_RNA|CCL14-CCL15_uc010wct.1_RNA|uc002hkq.2_5'Flank NM_032963 NP_116739 Q16627 CCL14_HUMAN chemokine (C-C motif) ligand 14 isoform 1 55 cellular calcium ion homeostasis|immune response|positive regulation of cell proliferation extracellular space chemokine activity|signal transducer activity 0 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CTGGCTGTTGGTCTCATAGTA 0.577 13 65 --- --- --- --- PASS CDC6 990 broad.mit.edu 37 17 38447541 38447541 + Missense_Mutation SNP G C C TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr17:38447541G>C uc002huj.1 + 3 620 c.410G>C c.(409-411)AGA>ACA p.R137T NM_001254 NP_001245 Q99741 CDC6_HUMAN cell division cycle 6 protein 137 cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle cytosol|nucleoplasm|spindle midzone|spindle pole ATP binding|kinase binding|nucleoside-triphosphatase activity ovary(2)|breast(1) 3 TCTGAGCAGAGATGTCCACTG 0.383 10 101 --- --- --- --- PASS COASY 80347 broad.mit.edu 37 17 40714959 40714959 + Missense_Mutation SNP C T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr17:40714959C>T uc002hzz.2 + 2 476 c.319C>T c.(319-321)CTC>TTC p.L107F COASY_uc010cyj.2_Missense_Mutation_p.L136F|COASY_uc002iab.2_5'UTR|COASY_uc002iad.2_Missense_Mutation_p.L107F|COASY_uc002iac.2_Missense_Mutation_p.L107F|COASY_uc002iae.2_5'Flank NM_001042529 NP_001035994 Q13057 COASY_HUMAN coenzyme A synthase isoform a 107 coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial outer membrane ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity 0 all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344) BRCA - Breast invasive adenocarcinoma(366;0.13) AGTCCAGAATCTCGCCCACCC 0.577 59 240 --- --- --- --- PASS CNTNAP1 8506 broad.mit.edu 37 17 40843901 40843901 + Missense_Mutation SNP G A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr17:40843901G>A uc002iay.2 + 16 2638 c.2422G>A c.(2422-2424)GAT>AAT p.D808N CNTNAP1_uc010wgs.1_RNA NM_003632 NP_003623 P78357 CNTP1_HUMAN contactin associated protein 1 precursor 808 Extracellular (Potential). axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1) 8 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) CCACAGCCTGGATGTCTCCTT 0.577 78 380 --- --- --- --- PASS BRCA1 672 broad.mit.edu 37 17 41246585 41246585 + Missense_Mutation SNP C A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr17:41246585C>A uc002icq.2 - 10 1195 c.963G>T c.(961-963)TGG>TGT p.W321C BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.W250C|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.W274C|BRCA1_uc002ict.2_Missense_Mutation_p.W321C|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.W321C|BRCA1_uc002ide.1_Missense_Mutation_p.W152C|BRCA1_uc010cyy.1_Missense_Mutation_p.W321C|BRCA1_uc010whs.1_Missense_Mutation_p.W321C|BRCA1_uc010cyz.2_Missense_Mutation_p.W274C|BRCA1_uc010cza.2_Missense_Mutation_p.W295C|BRCA1_uc010wht.1_Missense_Mutation_p.W25C NM_007294 NP_009225 P38398 BRCA1_HUMAN breast cancer 1, early onset isoform 1 321 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1) 52 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) TACTTCCAGCCCATCTGTTAT 0.408 D|Mis|N|F|S ovarian breast|ovarian Homologous_recombination Hereditary_Breast-Ovarian_Cancer_BRCA1_type TCGA Ovarian(2;0.000030) 20 231 --- --- --- --- PASS PLEKHM1 9842 broad.mit.edu 37 17 43515290 43515290 + Silent SNP C A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr17:43515290C>A uc002ija.2 - 12 3275 c.3105G>T c.(3103-3105)GTG>GTT p.V1035V PLEKHM1_uc010wjm.1_Silent_p.V1007V|PLEKHM1_uc002ijb.2_Silent_p.V510V NM_014798 NP_055613 Q9Y4G2 PKHM1_HUMAN pleckstrin homology domain containing, family M 1035 Phorbol-ester/DAG-type. intracellular signal transduction cytoplasm metal ion binding 0 Renal(3;0.0405) CCTTCTTCACCACAGCCTGGC 0.652 15 78 --- --- --- --- PASS NPEPPS 9520 broad.mit.edu 37 17 45682807 45682807 + Missense_Mutation SNP C T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr17:45682807C>T uc002ilr.3 + 17 2207 c.1984C>T c.(1984-1986)CTC>TTC p.L662F NPEPPS_uc010wkt.1_Missense_Mutation_p.L658F|NPEPPS_uc010wku.1_Missense_Mutation_p.L626F|NPEPPS_uc010wkv.1_Missense_Mutation_p.L216F|NPEPPS_uc002ils.1_Missense_Mutation_p.L95F NM_006310 NP_006301 P55786 PSA_HUMAN aminopeptidase puromycin sensitive 662 proteolysis cytosol|nucleus aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding 0 CCTGGGGATTCTCTCAACTCT 0.463 3 23 --- --- --- --- PASS NXPH3 11248 broad.mit.edu 37 17 47656017 47656017 + Silent SNP C T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr17:47656017C>T uc002ipa.2 + 2 398 c.114C>T c.(112-114)CAC>CAT p.H38H NXPH3_uc010wlw.1_Silent_p.H38H NM_007225 NP_009156 O95157 NXPH3_HUMAN neurexophilin 3 precursor 38 II. neuropeptide signaling pathway extracellular region pancreas(1)|skin(1) 2 all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17) GTGATGACCACGAGGGCCAGC 0.657 4 108 --- --- --- --- PASS EME1 146956 broad.mit.edu 37 17 48458295 48458295 + Missense_Mutation SNP G C C TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr17:48458295G>C uc002iqs.1 + 9 1781 c.1708G>C c.(1708-1710)GAC>CAC p.D570H EME1_uc010dbp.1_Missense_Mutation_p.D583H|EME1_uc010dbq.1_RNA|uc010wmk.1_5'Flank NM_152463 NP_689676 Q96AY2 EME1_HUMAN essential meiotic endonuclease 1 homolog 1 570 DNA recombination|DNA repair nucleolus DNA binding|endonuclease activity|metal ion binding|protein binding 0 Breast(11;5.62e-19) BRCA - Breast invasive adenocarcinoma(22;2.43e-08) AGATAGTGCTGACTGATTCTA 0.502 Direct_reversal_of_damage|Homologous_recombination 3 73 --- --- --- --- PASS MTMR4 9110 broad.mit.edu 37 17 56569101 56569101 + Nonsense_Mutation SNP C A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr17:56569101C>A uc002iwj.2 - 19 3621 c.3511G>T c.(3511-3513)GAA>TAA p.E1171* NM_004687 NP_004678 Q9NYA4 MTMR4_HUMAN myotubularin related protein 4 1171 FYVE-type. cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity skin(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) TGAATGTGTTCGTAACATGAG 0.483 20 103 --- --- --- --- PASS ITGB4 3691 broad.mit.edu 37 17 73732131 73732131 + Splice_Site SNP G A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr17:73732131G>A uc002jpg.2 + 14 1845 c.1658_splice c.e14-1 p.D553_splice ITGB4_uc002jph.2_Splice_Site_p.D553_splice|ITGB4_uc010dgo.2_Splice_Site_p.D553_splice|ITGB4_uc002jpi.3_Splice_Site_p.D553_splice|ITGB4_uc010dgp.1_Splice_Site_p.D553_splice|ITGB4_uc002jpj.2_Splice_Site_p.D553_splice|ITGB4_uc010wsh.1_Splice_Site_p.D108_splice NM_000213 NP_000204 P16144 ITB4_HUMAN integrin beta 4 isoform 1 precursor cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity lung(4) 4 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) CCTCTCTGCAGACCGAGGACG 0.612 15 266 --- --- --- --- PASS RNF157 114804 broad.mit.edu 37 17 74163754 74163754 + Missense_Mutation SNP C T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr17:74163754C>T uc002jqz.2 - 4 490 c.421G>A c.(421-423)GAG>AAG p.E141K RNF157_uc002jra.2_Missense_Mutation_p.E141K NM_052916 NP_443148 Q96PX1 RN157_HUMAN ring finger protein 157 141 zinc ion binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(166;0.187) TTCTGGAACTCTTCCGTGGCC 0.483 10 157 --- --- --- --- PASS CARD14 79092 broad.mit.edu 37 17 78165148 78165148 + Missense_Mutation SNP G C C TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr17:78165148G>C uc002jxw.1 + 8 1311 c.1116G>C c.(1114-1116)CAG>CAC p.Q372H CARD14_uc002jxt.1_RNA|CARD14_uc002jxv.2_Missense_Mutation_p.Q372H|CARD14_uc010wud.1_RNA|CARD14_uc002jxx.2_Missense_Mutation_p.Q135H|CARD14_uc010dhu.1_Missense_Mutation_p.Q170H NM_024110 NP_077015 Q9BXL6 CAR14_HUMAN caspase recruitment domain protein 14 isoform 1 372 Potential. activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis aggresome|cytoplasm|plasma membrane CARD domain binding ovary(4)|skin(1) 5 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908) ACAGTGCTCAGAGGGAGATTT 0.657 8 109 --- --- --- --- PASS TJP3 27134 broad.mit.edu 37 19 3740705 3740705 + Nonsense_Mutation SNP C G G TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr19:3740705C>G uc010xhv.1 + 13 1886 c.1886C>G c.(1885-1887)TCA>TGA p.S629* TJP3_uc010xhs.1_Nonsense_Mutation_p.S596*|TJP3_uc010xht.1_Nonsense_Mutation_p.S560*|TJP3_uc010xhu.1_Nonsense_Mutation_p.S605*|TJP3_uc010xhw.1_Nonsense_Mutation_p.S615* NM_014428 NP_055243 O95049 ZO3_HUMAN tight junction protein 3 610 Guanylate kinase-like. tight junction protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) GAGGACCTCTCAGCTCTGACC 0.687 5 48 --- --- --- --- PASS TMEM146 257062 broad.mit.edu 37 19 5776281 5776281 + Missense_Mutation SNP A G G TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr19:5776281A>G uc002mda.2 + 21 2112 c.2051A>G c.(2050-2052)AAT>AGT p.N684S NM_152784 NP_689997 Q86XM0 TM146_HUMAN transmembrane protein 146 precursor 684 Extracellular (Potential). integral to membrane ovary(1)|central_nervous_system(1)|pancreas(1) 3 TTCGGCCACAATGGCTTTTAT 0.577 12 82 --- --- --- --- PASS FBN3 84467 broad.mit.edu 37 19 8154983 8154983 + Missense_Mutation SNP C T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr19:8154983C>T uc002mjf.2 - 48 6205 c.6184G>A c.(6184-6186)GCT>ACT p.A2062T FBN3_uc002mje.2_5'Flank NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 2062 TB 8. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 GGGCACTCACCGCTGCCCTCC 0.632 3 67 --- --- --- --- PASS MYO1F 4542 broad.mit.edu 37 19 8601411 8601411 + Missense_Mutation SNP G T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr19:8601411G>T uc002mkg.2 - 18 1984 c.1870C>A c.(1870-1872)CGC>AGC p.R624S NM_012335 NP_036467 O00160 MYO1F_HUMAN myosin IF 624 Myosin head-like. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(1) 3 AACTGGCGGCGGTAGGCGAAG 0.642 13 100 --- --- --- --- PASS MAST1 22983 broad.mit.edu 37 19 12962980 12962980 + Missense_Mutation SNP G T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr19:12962980G>T uc002mvm.2 + 9 1056 c.928G>T c.(928-930)GCC>TCC p.A310S MAST1_uc002mvk.2_Missense_Mutation_p.A306S NM_014975 NP_055790 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 310 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(3)|lung(2)|large_intestine(1)|skin(1) 7 CGAAGGACACGCCAAGGAGGG 0.652 12 98 --- --- --- --- PASS C19orf57 79173 broad.mit.edu 37 19 14000131 14000131 + Missense_Mutation SNP C T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr19:14000131C>T uc002mxl.1 - 6 1597 c.1538G>A c.(1537-1539)CGA>CAA p.R513Q C19orf57_uc002mxk.1_Missense_Mutation_p.R395Q|C19orf57_uc002mxm.1_Intron NM_024323 NP_077299 Q0VDD7 CS057_HUMAN hypothetical protein LOC79173 513 multicellular organismal development protein binding ovary(2)|upper_aerodigestive_tract(1) 3 OV - Ovarian serous cystadenocarcinoma(19;2e-21) CAGGTGGTCTCGCTGCCCTGC 0.597 7 86 --- --- --- --- PASS JAK3 3718 broad.mit.edu 37 19 17950440 17950440 + Silent SNP G A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr19:17950440G>A uc002nhn.3 - 10 1387 c.1287C>T c.(1285-1287)CTC>CTT p.L429L JAK3_uc010ebh.2_RNA|JAK3_uc002nho.2_Silent_p.L429L|JAK3_uc010xpx.1_Silent_p.L429L NM_000215 NP_000206 P52333 JAK3_HUMAN Janus kinase 3 429 SH2; atypical. B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1) 56 TGCGCCGGATGAGGCAGCCCT 0.602 2 Mis acute megakaryocytic leukemia| 4 23 --- --- --- --- PASS PSMC4 5704 broad.mit.edu 37 19 40477127 40477127 + Missense_Mutation SNP C G G TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr19:40477127C>G uc002omq.2 + 1 55 c.18C>G c.(16-18)ATC>ATG p.I6M PSMC4_uc002omr.2_Missense_Mutation_p.I6M NM_006503 NP_006494 P43686 PRS6B_HUMAN proteasome 26S ATPase subunit 4 isoform 1 6 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding ovary(1) 1 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) AGATAGGCATCTTGGTGGAGA 0.617 11 177 --- --- --- --- PASS GSK3A 2931 broad.mit.edu 37 19 42738713 42738713 + Missense_Mutation SNP A G G TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr19:42738713A>G uc002otb.1 - 5 903 c.784T>C c.(784-786)TGC>CGC p.C262R GSK3A_uc002ota.1_Missense_Mutation_p.C180R|GSK3A_uc002otc.2_RNA NM_019884 NP_063937 P49840 GSK3A_HUMAN glycogen synthase kinase 3 alpha 262 Protein kinase. insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process beta-catenin destruction complex|cytosol ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity ovary(2)|lung(2) 4 Prostate(69;0.00682) CCAAAATCGCAGAGCTTGAGG 0.627 12 93 --- --- --- --- PASS SLC17A7 57030 broad.mit.edu 37 19 49933907 49933907 + Missense_Mutation SNP C A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr19:49933907C>A uc002pnp.2 - 12 1724 c.1552G>T c.(1552-1554)GGC>TGC p.G518C SLC17A7_uc002pno.2_Missense_Mutation_p.G180C NM_020309 NP_064705 Q9P2U7 VGLU1_HUMAN solute carrier family 17, member 7 518 Cytoplasmic (Potential). glutamate secretion|neurotransmitter secretion cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity ovary(1)|pancreas(1)|skin(1) 3 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245) TCGTCACTGCCAGCCAGCTGG 0.637 15 85 --- --- --- --- PASS CPT1C 126129 broad.mit.edu 37 19 50213726 50213726 + Silent SNP A G G TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr19:50213726A>G uc002ppj.2 + 14 1921 c.1716A>G c.(1714-1716)CAA>CAG p.Q572Q CPT1C_uc002ppl.3_Silent_p.Q538Q|CPT1C_uc002ppi.2_Silent_p.Q489Q|CPT1C_uc002ppk.2_Silent_p.Q561Q|CPT1C_uc010eng.2_Silent_p.Q572Q|CPT1C_uc010enh.2_Silent_p.Q572Q|CPT1C_uc010ybc.1_Silent_p.Q443Q|CPT1C_uc010eni.1_Silent_p.Q229Q NM_152359 NP_689572 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C isoform 2 572 Cytoplasmic (Potential). fatty acid metabolic process integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) TCGCCTTGCAACTGGCCCACT 0.587 9 62 --- --- --- --- PASS SIGLEC9 27180 broad.mit.edu 37 19 51629380 51629380 + Missense_Mutation SNP G A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr19:51629380G>A uc002pvu.2 + 3 810 c.743G>A c.(742-744)GGC>GAC p.G248D SIGLEC9_uc010yct.1_Missense_Mutation_p.G248D NM_014441 NP_055256 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 precursor 248 Extracellular (Potential).|Ig-like C2-type 2. cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding skin(1) 1 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) CAAGGAGACGGCACAGGTAGG 0.597 5 116 --- --- --- --- PASS ZNF614 80110 broad.mit.edu 37 19 52521336 52521336 + Missense_Mutation SNP C G G TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr19:52521336C>G uc002pyj.2 - 4 565 c.163G>C c.(163-165)GAT>CAT p.D55H ZNF614_uc002pyi.3_Missense_Mutation_p.D55H|ZNF614_uc010epj.2_5'UTR NM_025040 NP_079316 Q8N883 ZN614_HUMAN zinc finger protein 614 55 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 5 all_neural(266;0.0505) GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) GAGAGTACATCTGGTTTGCTA 0.393 11 125 --- --- --- --- PASS ZNF616 90317 broad.mit.edu 37 19 52619900 52619900 + Missense_Mutation SNP C A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr19:52619900C>A uc002pym.2 - 4 800 c.517G>T c.(517-519)GGT>TGT p.G173C ZNF616_uc002pyn.2_RNA NM_178523 NP_848618 Q08AN1 ZN616_HUMAN zinc finger protein 616 173 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189) ACTAAACAACCATTATTACCT 0.383 21 190 --- --- --- --- PASS TGM6 343641 broad.mit.edu 37 20 2398026 2398026 + Silent SNP C T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr20:2398026C>T uc002wfy.1 + 10 1546 c.1485C>T c.(1483-1485)ATC>ATT p.I495I TGM6_uc010gal.1_Silent_p.I495I NM_198994 NP_945345 O95932 TGM3L_HUMAN transglutaminase 6 495 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(3)|skin(1) 4 L-Glutamine(DB00130) AGCCCAGCATCGCTGGCAAGT 0.662 5 60 --- --- --- --- PASS ADRA1D 146 broad.mit.edu 37 20 4229246 4229246 + Nonsense_Mutation SNP G C C TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr20:4229246G>C uc002wkr.2 - 1 414 c.359C>G c.(358-360)TCA>TGA p.S120* NM_000678 NP_000669 P25100 ADA1D_HUMAN alpha-1D-adrenergic receptor 120 Helical; Name=1; (By similarity). cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation integral to plasma membrane alpha1-adrenergic receptor activity 0 Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162) GCAGGCCACTGAGAGGATGAC 0.473 3 26 --- --- --- --- PASS PHF20 51230 broad.mit.edu 37 20 34535534 34535534 + Silent SNP C T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr20:34535534C>T uc002xek.1 + 18 3135 c.3024C>T c.(3022-3024)CTC>CTT p.L1008L NM_016436 NP_057520 Q9BVI0 PHF20_HUMAN PHD finger protein 20 1008 regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex DNA binding|zinc ion binding ovary(1) 1 Breast(12;0.00631)|all_lung(11;0.0145) AGATCGCCCTCTGCTGCTCAA 0.557 13 67 --- --- --- --- PASS PREX1 57580 broad.mit.edu 37 20 47258974 47258974 + Missense_Mutation SNP G A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr20:47258974G>A uc002xtw.1 - 28 3678 c.3655C>T c.(3655-3657)CAT>TAT p.H1219Y PREX1_uc002xtv.1_Missense_Mutation_p.H516Y NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4, 1219 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(3)|ovary(2)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) AGGCAGCCATGAAGCTTGTCC 0.592 13 45 --- --- --- --- PASS CBLN4 140689 broad.mit.edu 37 20 54573773 54573773 + Missense_Mutation SNP G A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr20:54573773G>A uc002xxa.2 - 3 1231 c.446C>T c.(445-447)GCC>GTC p.A149V NM_080617 NP_542184 Q9NTU7 CBLN4_HUMAN cerebellin 4 precursor 149 C1q. cell junction|extracellular region|synapse ovary(3)|pancreas(1) 4 Colorectal(105;0.202) CCCCGCAAAGGCAGATATTAC 0.373 13 93 --- --- --- --- PASS TAF4 6874 broad.mit.edu 37 20 60574149 60574149 + Missense_Mutation SNP C G G TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr20:60574149C>G uc002ybs.2 - 12 2803 c.2803G>C c.(2803-2805)GAG>CAG p.E935Q NM_003185 NP_003176 O00268 TAF4_HUMAN TBP-associated factor 4 935 interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2)|pancreas(1) 3 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) CTCGCCTGCTCATATCTGTCG 0.483 41 597 --- --- --- --- PASS MORC3 23515 broad.mit.edu 37 21 37711192 37711192 + Missense_Mutation SNP C T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr21:37711192C>T uc002yvi.2 + 5 657 c.581C>T c.(580-582)ACG>ATG p.T194M NM_015358 NP_056173 Q14149 MORC3_HUMAN MORC family CW-type zinc finger 3 194 cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization aggresome|intermediate filament cytoskeleton|PML body ATP binding|zinc ion binding ovary(2) 2 AAGAAGGGGACGAGGATCATC 0.438 5 273 --- --- --- --- PASS KRTAP10-7 386675 broad.mit.edu 37 21 46021273 46021273 + Missense_Mutation SNP A T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr21:46021273A>T uc002zfn.3 + 2 762 c.737A>T c.(736-738)GAT>GTT p.D246V C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198689 NP_941962 P60409 KR107_HUMAN keratin associated protein 10-7 251 30 X 5 AA repeats of C-C-X(3). keratin filament 0 TGCTCTGATGATTCCGGTTCA 0.647 14 233 --- --- --- --- PASS PCNT 5116 broad.mit.edu 37 21 47754334 47754334 + Missense_Mutation SNP G C C TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr21:47754334G>C uc002zji.3 + 3 398 c.291G>C c.(289-291)AAG>AAC p.K97N PCNT_uc002zjj.2_5'UTR|PCNT_uc010gqk.1_RNA NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 97 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) ATGGAGAGAAGAGAGAGGACT 0.542 7 143 --- --- --- --- PASS LOC96610 96610 broad.mit.edu 37 22 23101419 23101419 + RNA SNP C T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr22:23101419C>T uc011aim.1 + 210 c.10848C>T Parts of antibodies, mostly variable regions. 0 TGCCCTGACTCAGCCTGCCTC 0.592 19 209 --- --- --- --- PASS PATZ1 23598 broad.mit.edu 37 22 31740795 31740795 + Missense_Mutation SNP C T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr22:31740795C>T uc003akq.2 - 1 1455 c.794G>A c.(793-795)CGA>CAA p.R265Q PATZ1_uc003akp.2_Missense_Mutation_p.R265Q|PATZ1_uc003akr.2_Missense_Mutation_p.R265Q|PATZ1_uc003aks.2_Missense_Mutation_p.R265Q|uc003akt.2_5'Flank NM_014323 NP_055138 Q9HBE1 PATZ1_HUMAN POZ (BTB) and AT hook containing zinc finger 1 265 A.T hook. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding EWSR1/PATZ1(2) soft_tissue(2) 2 GCCCCGGCCTCGCTTGCCAGT 0.652 7 31 --- --- --- --- PASS ARHGAP6 395 broad.mit.edu 37 X 11204422 11204422 + Missense_Mutation SNP G C C TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chrX:11204422G>C uc004cup.1 - 5 2080 c.1207C>G c.(1207-1209)CTG>GTG p.L403V ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Missense_Mutation_p.L403V|ARHGAP6_uc004cum.1_Missense_Mutation_p.L200V|ARHGAP6_uc004cun.1_Missense_Mutation_p.L223V|ARHGAP6_uc010neb.1_Missense_Mutation_p.L225V|ARHGAP6_uc011mif.1_Missense_Mutation_p.L200V NM_013427 NP_038286 O43182 RHG06_HUMAN Rho GTPase activating protein 6 isoform 1 403 Rho-GAP. actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction actin filament|cytosol phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity urinary_tract(1)|lung(1) 2 ATAGGATTCAGACTGAGTTTC 0.428 32 154 --- --- --- --- PASS TLR8 51311 broad.mit.edu 37 X 12939453 12939453 + Missense_Mutation SNP C A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chrX:12939453C>A uc004cve.2 + 2 2362 c.2294C>A c.(2293-2295)TCT>TAT p.S765Y TLR8_uc004cvd.2_Missense_Mutation_p.S783Y NM_138636 NP_619542 Q9NR97 TLR8_HUMAN toll-like receptor 8 precursor 765 Extracellular (Potential). cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity ovary(4)|lung(2)|large_intestine(1) 7 ACCAAATTATCTATGTTGGAA 0.408 9 78 --- --- --- --- PASS DCAF8L1 139425 broad.mit.edu 37 X 27998327 27998327 + Silent SNP T A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chrX:27998327T>A uc004dbx.1 - 1 1240 c.1125A>T c.(1123-1125)GTA>GTT p.V375V NM_001017930 NP_001017930 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 375 ovary(3)|skin(1) 4 ATTTCTTGAGTACTCCATTGT 0.423 15 46 --- --- --- --- PASS DCAF8L1 139425 broad.mit.edu 37 X 27998340 27998340 + Missense_Mutation SNP T C C TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chrX:27998340T>C uc004dbx.1 - 1 1227 c.1112A>G c.(1111-1113)GAA>GGA p.E371G NM_001017930 NP_001017930 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 371 WD 4. ovary(3)|skin(1) 4 TCCATTGTTTTCTTTCTTATC 0.393 10 47 --- --- --- --- PASS ZMAT1 84460 broad.mit.edu 37 X 101139090 101139090 + Missense_Mutation SNP G T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chrX:101139090G>T uc004eim.2 - 2 4294 c.796C>A c.(796-798)CAT>AAT p.H266N ZMAT1_uc011mrl.1_Missense_Mutation_p.H437N|ZMAT1_uc004ein.2_Missense_Mutation_p.H266N|ZMAT1_uc011mrm.1_Missense_Mutation_p.H266N NM_032441 NP_115817 Q5H9K5 ZMAT1_HUMAN zinc finger, matrin type 1 isoform 3 266 nucleus zinc ion binding ovary(1) 1 AACATTCTATGTCTGGGTCTG 0.418 123 201 --- --- --- --- PASS GPRASP1 9737 broad.mit.edu 37 X 101911775 101911775 + Missense_Mutation SNP G T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chrX:101911775G>T uc004ejj.3 + 5 3735 c.2934G>T c.(2932-2934)GAG>GAT p.E978D GPRASP1_uc004eji.3_Missense_Mutation_p.E978D|GPRASP1_uc010nod.2_Missense_Mutation_p.E978D NM_014710 NP_055525 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting 978 Glu-rich.|OPRD1-binding. cytoplasm protein binding ovary(1)|lung(1) 2 CTGAAGATGAGGTAGATAACA 0.507 42 71 --- --- --- --- PASS USP26 83844 broad.mit.edu 37 X 132161299 132161299 + Missense_Mutation SNP G T T TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chrX:132161299G>T uc010nrm.1 - 6 1420 c.950C>A c.(949-951)CCA>CAA p.P317Q USP26_uc011mvf.1_Missense_Mutation_p.P317Q NM_031907 NP_114113 Q9BXU7 UBP26_HUMAN ubiquitin-specific protease 26 317 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(3)|central_nervous_system(3)|kidney(1)|liver(1) 8 Acute lymphoblastic leukemia(192;0.000127) AGCAAACGATGGGATTGAAAG 0.383 19 61 --- --- --- --- PASS GABRQ 55879 broad.mit.edu 37 X 151815469 151815469 + Missense_Mutation SNP G A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chrX:151815469G>A uc004ffp.1 + 4 387 c.367G>A c.(367-369)GAG>AAG p.E123K NM_018558 NP_061028 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) receptor, theta 123 Extracellular (Potential). cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) AGCATACTATGAGACCACCCT 0.448 23 118 --- --- --- --- PASS NLGN4Y 22829 broad.mit.edu 37 Y 16952691 16952691 + Missense_Mutation SNP C A A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chrY:16952691C>A uc004ftg.2 + 6 2252 c.2000C>A c.(1999-2001)ACC>AAC p.T667N NLGN4Y_uc004fte.2_Missense_Mutation_p.T499N|NLGN4Y_uc011nas.1_Missense_Mutation_p.T687N|NLGN4Y_uc004ftf.2_Missense_Mutation_p.T360N|NLGN4Y_uc004fth.2_Missense_Mutation_p.T667N NM_014893 NP_055708 Q8NFZ3 NLGNY_HUMAN neuroligin 4, Y-linked isoform 1 667 Extracellular (Potential). brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|integral to plasma membrane|synapse neurexin binding|receptor activity 0 CTCATTGAAACCAAACGAGAT 0.512 4 108 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106919168 106919168 + RNA DEL C - - TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 015b9329-ecf2-4410-b7b6-f9313b5d2adb 605b9db5-8a6c-4175-9fb0-dec971780136 g.chr14:106919168delC uc010tyt.1 - 245 c.10611delG uc010tyu.1_Intron Parts of antibodies, mostly variable regions. 0 ACGTTAACCTCCCCCTCACTG 0.557 3 3 --- --- --- ---