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 ALDH4A1 8659 broad.mit.edu 37 1 19212114 19212114 + Silent SNP G C C TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr1:19212114G>C uc001bbb.2 - 5 582 c.306C>G c.(304-306)CTC>CTG p.L102L ALDH4A1_uc010ocu.1_Silent_p.L42L|ALDH4A1_uc001bbc.2_Silent_p.L102L NM_170726 NP_733844 P30038 AL4A1_HUMAN aldehyde dehydrogenase 4A1 isoform a precursor 102 proline biosynthetic process|proline catabolic process mitochondrial matrix 1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity 0 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) NADH(DB00157) TGGCTTTGTTGAGCAGGCTCT 0.622 9 35 --- --- --- --- PASS KDM1A 23028 broad.mit.edu 37 1 23395630 23395630 + Nonsense_Mutation SNP G T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr1:23395630G>T uc001bgi.2 + 10 1476 c.1327G>T c.(1327-1329)GAA>TAA p.E443* KDM1A_uc001bgj.2_Nonsense_Mutation_p.E467* NM_015013 NP_055828 O60341 KDM1A_HUMAN lysine-specific histone demethylase 1 isoform b 443 Potential.|Demethylase activity. blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nuclear chromatin androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding ovary(1)|lung(1) 2 AGAATTGAAAGAACTTCTTAA 0.308 13 65 --- --- --- --- PASS KIAA0319L 79932 broad.mit.edu 37 1 35915491 35915491 + Missense_Mutation SNP C T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr1:35915491C>T uc001byx.2 - 15 2588 c.2330G>A c.(2329-2331)CGG>CAG p.R777Q KIAA0319L_uc001byw.2_Missense_Mutation_p.R219Q|KIAA0319L_uc010ohv.1_Missense_Mutation_p.R419Q NM_024874 NP_079150 Q8IZA0 K319L_HUMAN dyslexia susceptibility 2-like 777 PKD 5.|Extracellular (Potential). cytoplasmic vesicle part|integral to membrane protein binding skin(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CACAGTGGTCCGGTCTGTGTC 0.483 27 67 --- --- --- --- PASS GPBP1L1 60313 broad.mit.edu 37 1 46093993 46093993 + Missense_Mutation SNP C G G TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr1:46093993C>G uc001coq.2 - 13 2721 c.1360G>C c.(1360-1362)GAG>CAG p.E454Q GPBP1L1_uc001coo.2_Missense_Mutation_p.E198Q NM_021639 NP_067652 Q9HC44 GPBL1_HUMAN GC-rich promoter binding protein 1-like 1 454 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) TCCTCAAACTCTGCTTTGCAA 0.463 56 277 --- --- --- --- PASS CYP4B1 1580 broad.mit.edu 37 1 47283815 47283815 + Missense_Mutation SNP C G G TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr1:47283815C>G uc001cqm.3 + 11 1366 c.1282C>G c.(1282-1284)CTG>GTG p.L428V CYP4B1_uc001cqn.3_Missense_Mutation_p.L429V|CYP4B1_uc009vym.2_Missense_Mutation_p.L414V|CYP4B1_uc010omk.1_Missense_Mutation_p.L265V NM_000779 NP_000770 P13584 CP4B1_HUMAN cytochrome P450, family 4, subfamily B, 428 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(166;0.155) CTTTGACTCTCTGCGCTTTTC 0.582 89 80 --- --- --- --- PASS C8A 731 broad.mit.edu 37 1 57349275 57349275 + Missense_Mutation SNP G C C TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr1:57349275G>C uc001cyo.2 + 6 908 c.776G>C c.(775-777)AGC>ACC p.S259T NM_000562 NP_000553 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 259 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex ovary(1)|central_nervous_system(1)|skin(1) 3 CCAGCCGGCAGCCCTTTATTG 0.403 18 123 --- --- --- --- PASS SGIP1 84251 broad.mit.edu 37 1 67154905 67154905 + Missense_Mutation SNP C T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr1:67154905C>T uc001dcr.2 + 16 1607 c.1390C>T c.(1390-1392)CGG>TGG p.R464W SGIP1_uc010opd.1_Missense_Mutation_p.R64W|SGIP1_uc001dcs.2_Missense_Mutation_p.R64W|SGIP1_uc001dct.2_Missense_Mutation_p.R64W|SGIP1_uc009wat.2_Missense_Mutation_p.R258W NM_032291 NP_115667 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting 464 Pro-rich. positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding ovary(3) 3 ACCTCCTCCCCGGCCTCCATC 0.527 94 336 --- --- --- --- PASS SGIP1 84251 broad.mit.edu 37 1 67154906 67154906 + Missense_Mutation SNP G T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr1:67154906G>T uc001dcr.2 + 16 1608 c.1391G>T c.(1390-1392)CGG>CTG p.R464L SGIP1_uc010opd.1_Missense_Mutation_p.R64L|SGIP1_uc001dcs.2_Missense_Mutation_p.R64L|SGIP1_uc001dct.2_Missense_Mutation_p.R64L|SGIP1_uc009wat.2_Missense_Mutation_p.R258L NM_032291 NP_115667 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting 464 Pro-rich. positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding ovary(3) 3 CCTCCTCCCCGGCCTCCATCC 0.522 94 333 --- --- --- --- PASS IFI44L 10964 broad.mit.edu 37 1 79095529 79095529 + Missense_Mutation SNP A C C TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr1:79095529A>C uc010oro.1 + 4 831 c.652A>C c.(652-654)AAG>CAG p.K218Q IFI44L_uc010orp.1_5'UTR|IFI44L_uc010orq.1_Intron NM_006820 NP_006811 Q53G44 IF44L_HUMAN interferon-induced protein 44-like 218 cytoplasm 0 CAATTCAGTCAAGTCTATTTT 0.438 27 84 --- --- --- --- PASS DNASE2B 58511 broad.mit.edu 37 1 84880393 84880393 + Missense_Mutation SNP A G G TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr1:84880393A>G uc001djt.1 + 6 961 c.928A>G c.(928-930)ATT>GTT p.I310V DNASE2B_uc001dju.1_Missense_Mutation_p.I102V|DNASE2B_uc009wch.1_Missense_Mutation_p.I102V NM_021233 NP_067056 Q8WZ79 DNS2B_HUMAN deoxyribonuclease II beta isoform 1 precursor 310 DNA metabolic process lysosome deoxyribonuclease II activity 0 all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808) CAAGTGGTGTATTTCCCAAAA 0.403 Direct_reversal_of_damage 3 73 --- --- --- --- PASS SPAG17 200162 broad.mit.edu 37 1 118567962 118567962 + Missense_Mutation SNP C G G TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr1:118567962C>G uc001ehk.2 - 27 3876 c.3808G>C c.(3808-3810)GAG>CAG p.E1270Q NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1270 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) TTATAGAACTCATAGTGCTTC 0.463 33 119 --- --- --- --- PASS PDE4DIP 9659 broad.mit.edu 37 1 144865917 144865917 + Missense_Mutation SNP T A A TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr1:144865917T>A uc001elw.3 - 35 5954 c.5663A>T c.(5662-5664)AAC>ATC p.N1888I NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.N1782I|PDE4DIP_uc001elv.3_Missense_Mutation_p.N895I|PDE4DIP_uc001ema.2_Missense_Mutation_p.N75I NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 1888 Potential. cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) ACTGTAGAAGTTAGAAGTGGA 0.463 T PDGFRB MPD 75 472 --- --- --- --- PASS LIX1L 128077 broad.mit.edu 37 1 145498774 145498774 + Missense_Mutation SNP G A A TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr1:145498774G>A uc001enr.2 + 6 1084 c.1010G>A c.(1009-1011)TGC>TAC p.C337Y NBPF10_uc001emp.3_Intron|LIX1L_uc009wiu.1_5'Flank NM_153713 NP_714924 Q8IVB5 LIX1L_HUMAN Lix1 homolog (mouse) like 337 ovary(1) 1 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TCTTCCAACTGCTAGGCATCC 0.458 24 60 --- --- --- --- PASS HIST2H2AB 317772 broad.mit.edu 37 1 149859324 149859324 + Missense_Mutation SNP G C C TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr1:149859324G>C uc001ete.2 - 1 143 c.143C>G c.(142-144)GCC>GGC p.A48G HIST2H2BE_uc001etc.2_5'Flank NM_175065 NP_778235 Q8IUE6 H2A2B_HUMAN histone cluster 2, H2ab 48 nucleosome assembly nucleosome|nucleus DNA binding ovary(1)|breast(1) 2 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) GTACACCGGGGCGCCTGCCCC 0.687 10 75 --- --- --- --- PASS FLG 2312 broad.mit.edu 37 1 152281822 152281822 + Missense_Mutation SNP G A A TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr1:152281822G>A uc001ezu.1 - 3 5576 c.5540C>T c.(5539-5541)ACG>ATG p.T1847M NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1847 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTCCTGGGACGTGGTGTGGCT 0.552 Ichthyosis 160 343 --- --- --- --- PASS LY9 4063 broad.mit.edu 37 1 160789114 160789114 + Nonsense_Mutation SNP C G G TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr1:160789114C>G uc001fwu.2 + 7 1498 c.1448C>G c.(1447-1449)TCA>TGA p.S483* LY9_uc001fwv.2_Nonsense_Mutation_p.S483*|LY9_uc001fww.2_Nonsense_Mutation_p.S393*|LY9_uc001fwx.2_Nonsense_Mutation_p.S393*|LY9_uc001fwy.1_Nonsense_Mutation_p.S295*|LY9_uc001fwz.2_Nonsense_Mutation_p.S135* NM_002348 NP_002339 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 isoform a 483 Cytoplasmic (Potential). cell adhesion|immunoglobulin mediated immune response integral to membrane ovary(1) 1 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) TTCTCAGGTTCAGTCCCAGCC 0.493 35 86 --- --- --- --- PASS METTL13 51603 broad.mit.edu 37 1 171755047 171755047 + Silent SNP C G G TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr1:171755047C>G uc001ghz.2 + 3 1289 c.942C>G c.(940-942)CTC>CTG p.L314L METTL13_uc001gia.2_Silent_p.L228L|METTL13_uc001gib.2_Silent_p.L158L|METTL13_uc010pml.1_Silent_p.L313L NM_015935 NP_057019 Q8N6R0 MTL13_HUMAN CGI-01 protein isoform 1 314 methyltransferase activity|protein binding kidney(1) 1 CCGAGTGGCTCTTTGGCATGG 0.557 6 30 --- --- --- --- PASS TNN 63923 broad.mit.edu 37 1 175092792 175092792 + Silent SNP C G G rs138898390 TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr1:175092792C>G uc001gkl.1 + 12 3020 c.2907C>G c.(2905-2907)GCC>GCG p.A969A NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 969 Fibronectin type-III 8. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) ACACCAAGGCCCAGACAGGTA 0.627 5 88 --- --- --- --- PASS FAM5B 57795 broad.mit.edu 37 1 177250258 177250258 + Missense_Mutation SNP G A A TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr1:177250258G>A uc001glf.2 + 8 2258 c.1946G>A c.(1945-1947)CGA>CAA p.R649Q FAM5B_uc001glg.2_Missense_Mutation_p.R544Q NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN family with sequence similarity 5, member B 649 extracellular region skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 CTACGGAGCCGAATCAAGTCC 0.463 18 81 --- --- --- --- PASS SEC16B 89866 broad.mit.edu 37 1 177937043 177937043 + Missense_Mutation SNP C T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr1:177937043C>T uc001gli.1 - 2 164 c.74G>A c.(73-75)CGA>CAA p.R25Q SEC16B_uc001glk.1_5'UTR|SEC16B_uc009wwz.1_5'UTR|SEC16B_uc001glj.1_Missense_Mutation_p.R25Q|SEC16B_uc001gll.3_Missense_Mutation_p.R25Q NM_033127 NP_149118 Q96JE7 SC16B_HUMAN leucine zipper transcription regulator 2 25 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane ovary(3)|central_nervous_system(1) 4 CCGAAACCCTCGGTCTGGATC 0.577 19 42 --- --- --- --- PASS TPR 7175 broad.mit.edu 37 1 186308815 186308815 + Silent SNP T C C TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr1:186308815T>C uc001grv.2 - 30 4407 c.4110A>G c.(4108-4110)CAA>CAG p.Q1370Q NM_003292 NP_003283 P12270 TPR_HUMAN nuclear pore complex-associated protein TPR 1370 Potential. carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1) 7 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) CTTCTGTCAATTGTTGAATAC 0.303 T NTRK1 papillary thyroid 17 59 --- --- --- --- PASS C4BPA 722 broad.mit.edu 37 1 207304941 207304941 + Missense_Mutation SNP C T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr1:207304941C>T uc001hfo.2 + 8 1134 c.940C>T c.(940-942)CCT>TCT p.P314S NM_000715 NP_000706 P04003 C4BPA_HUMAN complement component 4 binding protein, alpha 314 Sushi 5. complement activation, classical pathway|innate immune response extracellular region protein binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 GGAAACATATCCTAGGCCGAC 0.433 26 58 --- --- --- --- PASS SYT14 255928 broad.mit.edu 37 1 210267799 210267799 + Missense_Mutation SNP C T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr1:210267799C>T uc009xcv.2 + 5 647 c.575C>T c.(574-576)TCC>TTC p.S192F SYT14_uc001hhs.3_Missense_Mutation_p.S237F|SYT14_uc001hht.3_Missense_Mutation_p.S192F|SYT14_uc001hhu.3_RNA|SYT14_uc010psn.1_Missense_Mutation_p.S237F|SYT14_uc010pso.1_Missense_Mutation_p.S154F NM_153262 NP_694994 Q8NB59 SYT14_HUMAN synaptotagmin XIV isoform 4 192 Cytoplasmic (Potential). integral to membrane ovary(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.085) TGTGAATTTTCCCACTGCAGC 0.433 25 57 --- --- --- --- PASS OR2G3 81469 broad.mit.edu 37 1 247769169 247769169 + Silent SNP C T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr1:247769169C>T uc010pyz.1 + 1 282 c.282C>T c.(280-282)TAC>TAT p.Y94Y NM_001001914 NP_001001914 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, 94 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) CGATCACTTACGGTGGTTGTG 0.473 120 259 --- --- --- --- PASS OR2M5 127059 broad.mit.edu 37 1 248308860 248308860 + Missense_Mutation SNP A C C TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr1:248308860A>C uc010pze.1 + 1 411 c.411A>C c.(409-411)AGA>AGC p.R137S NM_001004690 NP_001004690 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, 137 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|kidney(1) 3 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) ATCTCATGAGACCCAAAATTT 0.453 69 374 --- --- --- --- PASS OR2T2 401992 broad.mit.edu 37 1 248616135 248616135 + Missense_Mutation SNP T G G TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr1:248616135T>G uc001iek.1 + 1 37 c.37T>G c.(37-39)TTC>GTC p.F13V NM_001004136 NP_001004136 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, 13 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CTCCACTAACTTCGTCCTCAC 0.502 8 119 --- --- --- --- PASS SRBD1 55133 broad.mit.edu 37 2 45616517 45616517 + Missense_Mutation SNP C T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr2:45616517C>T uc002rus.2 - 21 2996 c.2920G>A c.(2920-2922)GAA>AAA p.E974K SRBD1_uc010yoc.1_Missense_Mutation_p.E493K NM_018079 NP_060549 Q8N5C6 SRBD1_HUMAN S1 RNA binding domain 1 974 S1 motif. nucleobase, nucleoside, nucleotide and nucleic acid metabolic process hydrolase activity, acting on ester bonds|RNA binding central_nervous_system(1) 1 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) ACTTGGACTTCCACTCTTTCT 0.463 32 88 --- --- --- --- PASS CNNM4 26504 broad.mit.edu 37 2 97464819 97464819 + Silent SNP G A A TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr2:97464819G>A uc002swx.2 + 4 1805 c.1707G>A c.(1705-1707)CTG>CTA p.L569L CNNM4_uc010yuy.1_Silent_p.L56L NM_020184 NP_064569 Q6P4Q7 CNNM4_HUMAN cyclin M4 569 biomineral tissue development|ion transport|response to stimulus|visual perception integral to membrane|plasma membrane breast(2)|ovary(1) 3 GCCCCTCCCTGATATCAGAGA 0.537 25 52 --- --- --- --- PASS GALNT5 11227 broad.mit.edu 37 2 158114721 158114721 + Missense_Mutation SNP C T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr2:158114721C>T uc002tzg.2 + 1 382 c.127C>T c.(127-129)CGG>TGG p.R43W GALNT5_uc010zci.1_RNA NM_014568 NP_055383 Q7Z7M9 GALT5_HUMAN N-acetylgalactosaminyltransferase 5 43 Lumenal (Potential). glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(3)|skin(1) 4 GATCAACACTCGGGTCATCAA 0.468 53 182 --- --- --- --- PASS SCN7A 6332 broad.mit.edu 37 2 167298201 167298201 + Missense_Mutation SNP C T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr2:167298201C>T uc002udu.1 - 14 1989 c.1862G>A c.(1861-1863)AGT>AAT p.S621N SCN7A_uc010fpm.1_RNA NM_002976 NP_002967 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha 621 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity large_intestine(1) 1 CCATGAGTTACTAAGAGACCA 0.373 32 80 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179428793 179428793 + Missense_Mutation SNP C A A TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr2:179428793C>A uc010zfg.1 - 275 74586 c.74362G>T c.(74362-74364)GGT>TGT p.G24788C uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G18483C|TTN_uc010zfi.1_Missense_Mutation_p.G18416C|TTN_uc010zfj.1_Missense_Mutation_p.G18291C NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 25715 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) GACTTTGTACCACCAACATTG 0.408 66 161 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179569463 179569463 + Missense_Mutation SNP C G G TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr2:179569463C>G uc010zfg.1 - 102 26228 c.26004G>C c.(26002-26004)TTG>TTC p.L8668F TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.L5329F NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 9595 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) CATTATCTTTCAAAACTGTCT 0.323 6 40 --- --- --- --- PASS COL3A1 1281 broad.mit.edu 37 2 189855088 189855088 + Splice_Site SNP T G G TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr2:189855088T>G uc002uqj.1 + 10 915 c.798_splice c.e10+2 p.R266_splice COL3A1_uc010frw.1_5'Flank NM_000090 NP_000081 P02461 CO3A1_HUMAN collagen type III alpha 1 preproprotein axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding central_nervous_system(7)|ovary(4)|large_intestine(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) GGACACAGAGTAAGTAGAGTT 0.348 14 65 --- --- --- --- PASS DOCK10 55619 broad.mit.edu 37 2 225717814 225717814 + Silent SNP A G G TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr2:225717814A>G uc010fwz.1 - 17 2153 c.1914T>C c.(1912-1914)CCT>CCC p.P638P DOCK10_uc002vob.2_Silent_p.P632P NM_014689 NP_055504 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 638 GTP binding ovary(2) 2 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) AAGGCTTGACAGGGATAAAGG 0.333 3 95 --- --- --- --- PASS GRM7 2917 broad.mit.edu 37 3 7620793 7620793 + Missense_Mutation SNP G C C TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr3:7620793G>C uc003bqm.2 + 8 2474 c.2200G>C c.(2200-2202)GAA>CAA p.E734Q GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.E734Q|GRM7_uc003bql.2_Missense_Mutation_p.E734Q|GRM7_uc003bqn.1_Missense_Mutation_p.E317Q|GRM7_uc010hch.1_Missense_Mutation_p.E245Q NM_000844 NP_000835 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 isoform a 734 Extracellular (Potential). negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding ovary(4)|lung(3) 7 L-Glutamic Acid(DB00142) AGACTATGATGAACACAAGAC 0.418 30 49 --- --- --- --- PASS XIRP1 165904 broad.mit.edu 37 3 39228401 39228401 + Silent SNP G A A TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr3:39228401G>A uc003cjk.1 - 2 2757 c.2536C>T c.(2536-2538)CTG>TTG p.L846L XIRP1_uc003cji.2_Silent_p.L846L|XIRP1_uc003cjj.2_Intron NM_194293 NP_919269 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 846 actin binding ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1) 8 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) TCCTGCACCAGCAGCCCCTGC 0.592 16 26 --- --- --- --- PASS CACNA1D 776 broad.mit.edu 37 3 53684870 53684870 + Missense_Mutation SNP A G G TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr3:53684870A>G uc003dgv.3 + 4 711 c.548A>G c.(547-549)TAT>TGT p.Y183C CACNA1D_uc003dgu.3_Missense_Mutation_p.Y183C|CACNA1D_uc003dgy.3_Missense_Mutation_p.Y183C NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, 183 I.|Helical; Name=S2 of repeat I; (Potential). axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) ATTATAGCGTATGGATTATTG 0.318 41 79 --- --- --- --- PASS CBLB 868 broad.mit.edu 37 3 105572277 105572277 + Missense_Mutation SNP C T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr3:105572277C>T uc003dwc.2 - 3 722 c.400G>A c.(400-402)GAA>AAA p.E134K CBLB_uc011bhi.1_Missense_Mutation_p.E156K|CBLB_uc003dwd.1_Missense_Mutation_p.E134K|CBLB_uc003dwe.1_Missense_Mutation_p.E134K|CBLB_uc011bhj.1_RNA NM_170662 NP_733762 Q13191 CBLB_HUMAN Cas-Br-M (murine) ecotropic retroviral 134 Cbl-PTB.|4H. cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding lung(4)|ovary(3)|breast(1)|skin(1) 9 GACTGTTCTTCATACATTCTC 0.338 Mis S AML 81 213 --- --- --- --- PASS ARHGAP31 57514 broad.mit.edu 37 3 119121048 119121048 + Silent SNP G A A TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr3:119121048G>A uc003ecj.3 + 10 1981 c.1449G>A c.(1447-1449)GCG>GCA p.A483A NM_020754 NP_065805 Q2M1Z3 RHG31_HUMAN Cdc42 GTPase-activating protein 483 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity ovary(2) 2 AGCGCAAGGCGCTGAACATCT 0.602 22 147 --- --- --- --- PASS DTX3L 151636 broad.mit.edu 37 3 122287849 122287849 + Silent SNP C T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr3:122287849C>T uc003efk.2 + 3 1002 c.913C>T c.(913-915)CTG>TTG p.L305L DTX3L_uc010hrj.2_Intron NM_138287 NP_612144 Q8TDB6 DTX3L_HUMAN deltex 3-like 305 histone monoubiquitination|response to DNA damage stimulus cytoplasm|nucleus histone binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2)|lung(1)|breast(1) 4 GBM - Glioblastoma multiforme(114;0.0459) CACAGAACCTCTGAAGCAAGA 0.403 19 121 --- --- --- --- PASS GRK7 131890 broad.mit.edu 37 3 141535632 141535632 + Missense_Mutation SNP G A A TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr3:141535632G>A uc011bnd.1 + 4 1486 c.1402G>A c.(1402-1404)GAA>AAA p.E468K NM_139209 NP_631948 Q8WTQ7 GRK7_HUMAN G-protein-coupled receptor kinase 7 precursor 468 AGC-kinase C-terminal. visual perception membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity lung(2)|stomach(1)|ovary(1)|skin(1) 5 TGGCCTAATTGAACCCCCATT 0.443 45 176 --- --- --- --- PASS GRK7 131890 broad.mit.edu 37 3 141535701 141535701 + Missense_Mutation SNP G C C TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr3:141535701G>C uc011bnd.1 + 4 1555 c.1471G>C c.(1471-1473)GAG>CAG p.E491Q NM_139209 NP_631948 Q8WTQ7 GRK7_HUMAN G-protein-coupled receptor kinase 7 precursor 491 AGC-kinase C-terminal. visual perception membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity lung(2)|stomach(1)|ovary(1)|skin(1) 5 TGATTTCTCTGAGGTTCGGGG 0.448 69 231 --- --- --- --- PASS ZIC4 84107 broad.mit.edu 37 3 147114108 147114108 + Silent SNP C T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr3:147114108C>T uc003ewd.1 - 3 492 c.219G>A c.(217-219)GCG>GCA p.A73A ZIC4_uc003ewc.1_Silent_p.A3A|ZIC4_uc011bno.1_Silent_p.A123A NM_032153 NP_115529 Q8N9L1 ZIC4_HUMAN zinc finger protein of the cerebellum 4 73 nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 GCTCCGGCCGCGCGTACATGT 0.716 4 15 --- --- --- --- PASS ABCF3 55324 broad.mit.edu 37 3 183907053 183907053 + Silent SNP C T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr3:183907053C>T uc003fmz.2 + 11 1178 c.1045C>T c.(1045-1047)CTG>TTG p.L349L ABCF3_uc003fna.2_Silent_p.L343L|ABCF3_uc003fnb.2_Silent_p.L30L NM_018358 NP_060828 Q9NUQ8 ABCF3_HUMAN ATP-binding cassette, sub-family F (GCN20), 349 ABC transporter 1. ATP binding|ATPase activity ovary(3)|lung(1) 4 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GCCAGATCTTCTGCTGTTAGA 0.483 21 103 --- --- --- --- PASS EIF4G1 1981 broad.mit.edu 37 3 184038429 184038429 + Silent SNP A T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr3:184038429A>T uc003fnp.2 + 8 747 c.549A>T c.(547-549)CGA>CGT p.R183R EIF4G1_uc003fno.1_Silent_p.R124R|EIF4G1_uc010hxw.1_Silent_p.R19R|EIF4G1_uc003fnt.2_5'UTR|EIF4G1_uc003fnq.2_Silent_p.R96R|EIF4G1_uc003fnr.2_Silent_p.R19R|EIF4G1_uc010hxx.2_Silent_p.R190R|EIF4G1_uc003fns.2_Silent_p.R143R|EIF4G1_uc010hxy.2_Silent_p.R190R|EIF4G1_uc010hxz.1_Silent_p.R96R|EIF4G1_uc003fnv.3_Silent_p.R183R|EIF4G1_uc003fnu.3_Silent_p.R183R|EIF4G1_uc003fnw.2_Silent_p.R190R|EIF4G1_uc003fnx.2_5'UTR|EIF4G1_uc003fny.3_5'UTR NM_198241 NP_937884 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 183 PABPC1-binding. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TCCGAATTCGAGATCCAAACC 0.552 33 147 --- --- --- --- PASS HTT 3064 broad.mit.edu 37 4 3133031 3133031 + Missense_Mutation SNP G T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr4:3133031G>T uc011bvq.1 + 16 2156 c.2011G>T c.(2011-2013)GAC>TAC p.D671Y NM_002111 NP_002102 P42858 HD_HUMAN huntingtin 669 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding skin(2)|ovary(1)|lung(1) 4 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) CATCAAAGGTGACATTGGACA 0.378 3 52 --- --- --- --- PASS KDR 3791 broad.mit.edu 37 4 55955889 55955889 + Silent SNP A G G rs150647161 TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr4:55955889A>G uc003has.2 - 24 3575 c.3273T>C c.(3271-3273)TTT>TTC p.F1091F KDR_uc003hat.1_Silent_p.F1091F NM_002253 NP_002244 P35968 VGFR2_HUMAN kinase insert domain receptor precursor 1091 Protein kinase.|Cytoplasmic (Potential). angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1) 33 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) GCAAAACACCAAAAGACCAGA 0.438 Mis NSCLC|angiosarcoma Familial_Infantile_Hemangioma TSP Lung(20;0.16) 67 109 --- --- --- --- PASS FRAS1 80144 broad.mit.edu 37 4 79437159 79437159 + Missense_Mutation SNP G A A TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr4:79437159G>A uc003hlb.2 + 66 10821 c.10381G>A c.(10381-10383)GAC>AAC p.D3461N NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 3456 Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 TGTAACCGCTGACTTCCAGGT 0.512 8 8 --- --- --- --- PASS ZNF827 152485 broad.mit.edu 37 4 146807209 146807209 + Missense_Mutation SNP C A A TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr4:146807209C>A uc003ikn.2 - 4 1416 c.1368G>T c.(1366-1368)CAG>CAT p.Q456H ZNF827_uc003ikm.2_Missense_Mutation_p.Q456H|ZNF827_uc010iox.2_Missense_Mutation_p.Q106H NM_178835 NP_849157 Q17R98 ZN827_HUMAN zinc finger protein 827 456 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_hematologic(180;0.151) TCAGGAAGTGCTGATGGCAAC 0.562 9 47 --- --- --- --- PASS C7 730 broad.mit.edu 37 5 40981503 40981503 + Missense_Mutation SNP G T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr5:40981503G>T uc003jmh.2 + 18 2474 c.2360G>T c.(2359-2361)AGC>ATC p.S787I NM_000587 NP_000578 P10643 CO7_HUMAN complement component 7 precursor 787 Complement control factor I module 2. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex 0 Ovarian(839;0.0112) GCTGAGAGCAGCAAATGTGTC 0.488 4 35 --- --- --- --- PASS HEATR7B2 133558 broad.mit.edu 37 5 40998193 40998193 + Silent SNP G A A TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr5:40998193G>A uc003jmj.3 - 42 5209 c.4719C>T c.(4717-4719)ACC>ACT p.T1573T HEATR7B2_uc003jmi.3_Silent_p.T1128T NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 1573 binding ovary(6)|central_nervous_system(2) 8 TTCTCAGGAGGGTTTGCAAAG 0.448 257 181 --- --- --- --- PASS PARP8 79668 broad.mit.edu 37 5 50128660 50128660 + Missense_Mutation SNP C T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr5:50128660C>T uc003jon.3 + 24 2461 c.2279C>T c.(2278-2280)TCA>TTA p.S760L PARP8_uc011cpz.1_Missense_Mutation_p.S652L|PARP8_uc003joo.2_Missense_Mutation_p.S760L|PARP8_uc003jop.2_Missense_Mutation_p.S718L NM_024615 NP_078891 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 760 PARP catalytic. intracellular NAD+ ADP-ribosyltransferase activity lung(3)|large_intestine(1)|ovary(1) 5 Lung NSC(810;0.0305)|Breast(144;0.222) GAGCCAGCTTCAAGCAGTAAA 0.438 19 40 --- --- --- --- PASS ZFYVE16 9765 broad.mit.edu 37 5 79752839 79752839 + Missense_Mutation SNP C T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr5:79752839C>T uc003kgr.3 + 14 4173 c.3871C>T c.(3871-3873)CAT>TAT p.H1291Y ZFYVE16_uc003kgq.3_Missense_Mutation_p.H1291Y|ZFYVE16_uc003kgs.3_Missense_Mutation_p.H1291Y|ZFYVE16_uc003kgt.3_Missense_Mutation_p.H379Y|ZFYVE16_uc003kgu.3_Missense_Mutation_p.H43Y NM_001105251 NP_001098721 Q7Z3T8 ZFY16_HUMAN zinc finger, FYVE domain containing 16 1291 BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization early endosome membrane 1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity 0 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36) AGCAGATTCTCATCTAGTCTG 0.383 38 51 --- --- --- --- PASS GPR98 84059 broad.mit.edu 37 5 90449047 90449047 + Missense_Mutation SNP G A A TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr5:90449047G>A uc003kju.2 + 89 18730 c.18634G>A c.(18634-18636)GAC>AAC p.D6212N GPR98_uc003kjt.2_Missense_Mutation_p.D3918N|GPR98_uc003kjw.2_Missense_Mutation_p.D1873N|GPR98_uc003kjx.2_Missense_Mutation_p.D240N NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 6212 Cytoplasmic (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GGTGCCACCTGACTGGGAGAG 0.478 7 10 --- --- --- --- PASS ANKRD32 84250 broad.mit.edu 37 5 94022307 94022307 + Missense_Mutation SNP A G G TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr5:94022307A>G uc003kkr.3 + 16 2085 c.2005A>G c.(2005-2007)ATT>GTT p.I669V ANKRD32_uc003kks.2_Missense_Mutation_p.I33V NM_032290 NP_115666 Q9BQI6 ANR32_HUMAN ankyrin repeat domain 32 669 ovary(2) 2 all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152) all cancers(79;3.88e-18) AGAGATTTTCATTTGCTCCTT 0.378 52 213 --- --- --- --- PASS PCDHA1 56147 broad.mit.edu 37 5 140168014 140168014 + Silent SNP C G G TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr5:140168014C>G uc003lhb.2 + 1 2139 c.2139C>G c.(2137-2139)CTC>CTG p.L713L PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Silent_p.L713L NM_018900 NP_061723 Q9Y5I3 PCDA1_HUMAN protocadherin alpha 1 isoform 1 precursor 713 Helical; (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCTGGTGCTCACACTGCTGC 0.682 14 52 --- --- --- --- PASS PCDHB14 56122 broad.mit.edu 37 5 140604601 140604601 + Silent SNP G C C TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr5:140604601G>C uc003ljb.2 + 1 1524 c.1524G>C c.(1522-1524)GCG>GCC p.A508A PCDHB14_uc011dal.1_Silent_p.A355A NM_018934 NP_061757 Q9Y5E9 PCDBE_HUMAN protocadherin beta 14 precursor 508 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCATCAACGCGGACAATGGCC 0.657 20 126 --- --- --- --- PASS CDHR2 54825 broad.mit.edu 37 5 176003183 176003183 + Silent SNP C T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr5:176003183C>T uc003mem.1 + 12 1257 c.1191C>T c.(1189-1191)GAC>GAT p.D397D CDHR2_uc003men.1_Silent_p.D397D NM_017675 NP_060145 Q9BYE9 CDHR2_HUMAN protocadherin LKC precursor 397 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding ovary(2) 2 ACGACCCGGACAAGGCAGGCG 0.672 13 56 --- --- --- --- PASS ZNF454 285676 broad.mit.edu 37 5 178392301 178392301 + Missense_Mutation SNP C A A TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr5:178392301C>A uc003mjo.1 + 5 1167 c.896C>A c.(895-897)CCT>CAT p.P299H ZNF454_uc010jkz.1_Missense_Mutation_p.P299H NM_182594 NP_872400 Q8N9F8 ZN454_HUMAN zinc finger protein 454 299 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|lung(1) 3 all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.234) GGAGAGAAACCTTTTAAATGT 0.383 31 50 --- --- --- --- PASS DSP 1832 broad.mit.edu 37 6 7571678 7571678 + Silent SNP A G G TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr6:7571678A>G uc003mxp.1 + 14 2043 c.1764A>G c.(1762-1764)CAA>CAG p.Q588Q DSP_uc003mxq.1_Silent_p.Q588Q NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 588 Globular 1. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TACATTACCAAGAGTTCATCA 0.448 90 143 --- --- --- --- PASS HIST1H1E 3008 broad.mit.edu 37 6 26156778 26156778 + Missense_Mutation SNP C T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr6:26156778C>T uc003ngq.2 + 1 220 c.160C>T c.(160-162)CGC>TGC p.R54C HIST1H2BD_uc003ngr.2_5'Flank|HIST1H2BD_uc003ngs.2_5'Flank NM_005321 NP_005312 P10412 H14_HUMAN histone cluster 1, H1e 54 H15. nucleosome assembly nucleosome|nucleus DNA binding|protein binding large_intestine(1)|ovary(1) 2 CTCCAAGGAGCGCAGCGGCGT 0.607 6 35 --- --- --- --- PASS HLA-G 3135 broad.mit.edu 37 6 29797255 29797255 + Missense_Mutation SNP G C C TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr6:29797255G>C uc003nnw.2 + 5 858 c.680G>C c.(679-681)TGC>TCC p.C227S HLA-G_uc011dmb.1_Missense_Mutation_p.C199S|HLA-G_uc003raj.3_Missense_Mutation_p.C232S|HLA-G_uc003nnz.3_Missense_Mutation_p.C135S|HLA-G_uc010jrn.2_Intron|HLA-G_uc003nny.3_RNA|HLA-G_uc003ran.1_5'Flank NM_002127 NP_002118 P17693 HLAG_HUMAN major histocompatibility complex, class I, G 227 Extracellular (Potential).|Ig-like C1-type.|Alpha-3. antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity ovary(3)|central_nervous_system(1) 4 ACCCTGAGGTGCTGGGCCCTG 0.592 11 184 --- --- --- --- PASS DNAH8 1769 broad.mit.edu 37 6 38743618 38743618 + Missense_Mutation SNP G T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr6:38743618G>T uc003ooe.1 + 11 1802 c.1202G>T c.(1201-1203)AGA>ATA p.R401I 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 ATAAAATTCAGAAATATATAC 0.299 23 135 --- --- --- --- PASS TAF8 129685 broad.mit.edu 37 6 42044885 42044885 + Missense_Mutation SNP C A A TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr6:42044885C>A uc003ors.2 + 8 857 c.828C>A c.(826-828)AAC>AAA p.N276K TAF8_uc003ort.2_Missense_Mutation_p.T317N|TAF8_uc003oru.1_Missense_Mutation_p.T317N|TAF8_uc003orv.1_Missense_Mutation_p.N276K|TAF8_uc011dun.1_Missense_Mutation_p.N200K NM_138572 NP_612639 Q7Z7C8 TAF8_HUMAN TBP-associated factor 8 276 cell differentiation|maintenance of protein location in nucleus|positive regulation of transcription, DNA-dependent|regulation of fat cell differentiation|transcription, DNA-dependent perinuclear region of cytoplasm|transcription factor TFIID complex DNA binding|protein binding ovary(1) 1 Colorectal(47;0.196) STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179) TGCAGCAGAACCCCTCCTTGT 0.507 14 132 --- --- --- --- PASS YIPF3 25844 broad.mit.edu 37 6 43480208 43480208 + Silent SNP G A A TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr6:43480208G>A uc003ovl.1 - 8 1031 c.874C>T c.(874-876)CTG>TTG p.L292L C6orf154_uc003ovk.1_5'Flank|YIPF3_uc011dvk.1_Silent_p.L257L|YIPF3_uc010jyr.1_Silent_p.L298L|YIPF3_uc010jys.1_Silent_p.L135L|YIPF3_uc003ovm.1_Silent_p.L166L|YIPF3_uc010jyt.1_Silent_p.L203L NM_015388 NP_056203 Q9GZM5 YIPF3_HUMAN natural killer cell-specific antigen KLIP1 292 Helical; (Potential). cell differentiation integral to membrane|plasma membrane|transport vesicle 0 all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711) GCAAAATGCAGATAGAGCAGG 0.567 11 67 --- --- --- --- PASS PKHD1 5314 broad.mit.edu 37 6 51524604 51524604 + Silent SNP G C C TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr6:51524604G>C uc003pah.1 - 61 10596 c.10320C>G c.(10318-10320)GTC>GTG p.V3440V NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 3440 Extracellular (Potential). V -> D. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) CACTGCTAAAGACATCAACAA 0.413 43 77 --- --- --- --- PASS BMP5 653 broad.mit.edu 37 6 55739436 55739436 + Silent SNP A C C TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr6:55739436A>C uc003pcq.2 - 1 940 c.228T>G c.(226-228)TCT>TCG p.S76S BMP5_uc011dxf.1_Silent_p.S76S NM_021073 NP_066551 P22003 BMP5_HUMAN bone morphogenetic protein 5 preproprotein 76 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity ovary(2) 2 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) AGAGAGGTGCAGAGGACGCTT 0.468 27 134 --- --- --- --- PASS EYA4 2070 broad.mit.edu 37 6 133833901 133833901 + Missense_Mutation SNP A G G TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr6:133833901A>G uc003qec.3 + 15 1782 c.1324A>G c.(1324-1326)AAT>GAT p.N442D EYA4_uc011ecq.1_Missense_Mutation_p.N388D|EYA4_uc011ecr.1_Missense_Mutation_p.N394D|EYA4_uc003qed.3_Missense_Mutation_p.N442D|EYA4_uc003qee.3_Missense_Mutation_p.N419D|EYA4_uc011ecs.1_Missense_Mutation_p.N448D|uc003qeg.1_Intron NM_004100 NP_004091 O95677 EYA4_HUMAN eyes absent 4 isoform a 442 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity large_intestine(2) 2 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) CTCTGATGATAATGGGCAGGA 0.343 82 133 --- --- --- --- PASS TNFAIP3 7128 broad.mit.edu 37 6 138192646 138192646 + Silent SNP G C C rs142122102 by1000genomes TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr6:138192646G>C uc003qhr.2 + 2 348 c.282G>C c.(280-282)GCG>GCC p.A94A TNFAIP3_uc003qhs.2_Silent_p.A94A NM_006290 NP_006281 P21580 TNAP3_HUMAN tumor necrosis factor, alpha-induced protein 3 94 TRAF-binding.|OTU. anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide centrosome|cytosol|nucleus caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding p.0?(22) haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1) 137 Breast(32;0.135)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468) AGCTTGTGGCGCTGAAAACGA 0.507 D|N|F marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma 37 102 --- --- --- --- PASS TMEM181 57583 broad.mit.edu 37 6 159046221 159046221 + Missense_Mutation SNP G A A TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr6:159046221G>A uc003qrm.3 + 12 1462 c.1451G>A c.(1450-1452)CGT>CAT p.R484H TMEM181_uc010kjr.1_Missense_Mutation_p.R315H NM_020823 NP_065874 Q9P2C4 TM181_HUMAN G protein-coupled receptor 178 484 pathogenesis integral to membrane toxin binding ovary(2)|central_nervous_system(1) 3 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05) TCCGAGCTACGTCACATGCCT 0.542 47 150 --- --- --- --- PASS MLLT4 4301 broad.mit.edu 37 6 168317906 168317906 + Silent SNP C T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr6:168317906C>T uc003qwd.2 + 19 2821 c.2679C>T c.(2677-2679)ATC>ATT p.I893I MLLT4_uc003qwb.1_Silent_p.I878I|MLLT4_uc003qwc.1_Silent_p.I894I|MLLT4_uc003qwg.1_Silent_p.I203I NM_001040001 NP_001035090 P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia 894 Dilute. adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding ovary(2)|lung(1)|kidney(1)|central_nervous_system(1) 5 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) AGCCTTTTATCCCAACGGTGA 0.388 T MLL AL 66 125 --- --- --- --- PASS THBS2 7058 broad.mit.edu 37 6 169637755 169637755 + Missense_Mutation SNP G T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr6:169637755G>T uc003qwt.2 - 9 1513 c.1265C>A c.(1264-1266)ACA>AAA p.T422K NM_003247 NP_003238 P35442 TSP2_HUMAN thrombospondin 2 precursor 422 TSP type-1 1. cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity ovary(5) 5 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) GCAAGCCCGTGTCTGGATGGA 0.652 10 67 --- --- --- --- PASS KIAA0415 9907 broad.mit.edu 37 7 4823974 4823974 + Silent SNP C G G TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr7:4823974C>G uc003sne.2 + 6 845 c.762C>G c.(760-762)GGC>GGG p.G254G KIAA0415_uc010ksp.2_RNA NM_014855 NP_055670 O43299 K0415_HUMAN hypothetical protein LOC9907 254 cell death|double-strand break repair via homologous recombination cytoplasm|nucleus protein binding central_nervous_system(1) 1 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.091)|OV - Ovarian serous cystadenocarcinoma(56;8.35e-15) TGCACAGCGGCCCCGAGGGCC 0.682 4 4 --- --- --- --- PASS PDK4 5166 broad.mit.edu 37 7 95216387 95216387 + Missense_Mutation SNP A G G TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr7:95216387A>G uc003uoa.2 - 10 1350 c.1030T>C c.(1030-1032)TTT>CTT p.F344L PDK4_uc003unz.2_Missense_Mutation_p.F132L NM_002612 NP_002603 Q16654 PDK4_HUMAN pyruvate dehydrogenase kinase 4 precursor 344 Histidine kinase. glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity 0 all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0151) TCTCCTTGAAAGTACTTTGCA 0.378 3 44 --- --- --- --- PASS ATXN7L1 222255 broad.mit.edu 37 7 105516995 105516995 + Missense_Mutation SNP C T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr7:105516995C>T uc003vde.2 - 1 37 c.10G>A c.(10-12)GAG>AAG p.E4K ATXN7L1_uc003vdi.2_Missense_Mutation_p.E4K|CDHR3_uc003vdk.2_5'Flank|uc003vdj.1_5'Flank NM_020725 NP_065776 Q9ULK2 AT7L1_HUMAN ataxin 7-like 1 isoform 1 4 0 CGAGAACGCTCCGACGTCATC 0.388 12 42 --- --- --- --- PASS SLC26A3 1811 broad.mit.edu 37 7 107427307 107427307 + Missense_Mutation SNP C G G TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr7:107427307C>G uc003ver.2 - 8 1147 c.936G>C c.(934-936)AGG>AGC p.R312S SLC26A3_uc003ves.2_Missense_Mutation_p.R277S NM_000111 NP_000102 P40879 S26A3_HUMAN solute carrier family 26, member 3 312 excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity ovary(3)|skin(1) 4 CCACTTTAAACCTGTTTTTAA 0.463 19 82 --- --- --- --- PASS CTTNBP2 83992 broad.mit.edu 37 7 117386086 117386086 + Missense_Mutation SNP T G G TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr7:117386086T>G uc003vjf.2 - 13 3508 c.3416A>C c.(3415-3417)CAG>CCG p.Q1139P NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 1139 ovary(4)|central_nervous_system(1) 5 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) GAGTGCAAGCTGATGTACTAT 0.393 60 106 --- --- --- --- PASS GSR 2936 broad.mit.edu 37 8 30546779 30546779 + Missense_Mutation SNP G A A TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr8:30546779G>A uc003xih.1 - 9 1031 c.940C>T c.(940-942)CCC>TCC p.P314S NM_000637 NP_000628 P00390 GSHR_HUMAN glutathione reductase precursor 314 cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion cytosol|mitochondrion electron carrier activity|glutathione-disulfide reductase activity ovary(2)|pancreas(2)|central_nervous_system(1) 5 KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125) Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157) AGCCTACCGGGAACTGCAGTA 0.488 22 80 --- --- --- --- PASS EFCAB1 79645 broad.mit.edu 37 8 49643960 49643960 + Missense_Mutation SNP C T T rs74697155 byFrequency TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr8:49643960C>T uc003xqo.2 - 2 321 c.161G>A c.(160-162)CGA>CAA p.R54Q EFCAB1_uc003xqn.3_Intron|EFCAB1_uc011ldj.1_Intron|EFCAB1_uc010lxx.2_Intron|EFCAB1_uc011ldk.1_Intron NM_024593 NP_078869 Q9HAE3 EFCB1_HUMAN EF-hand calcium binding domain 1 isoform a 54 calcium ion binding 0 all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464) CAGGATGTTTCGAAATGCATT 0.393 35 92 --- --- --- --- PASS COL14A1 7373 broad.mit.edu 37 8 121237336 121237336 + Missense_Mutation SNP G T T rs139519867 TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr8:121237336G>T uc003yox.2 + 15 2012 c.1747G>T c.(1747-1749)GAT>TAT p.D583Y COL14A1_uc003yoy.2_Missense_Mutation_p.D261Y NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor 583 Fibronectin type-III 4. 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) GGTTGAAGTCGATCCTATTAC 0.393 37 126 --- --- --- --- PASS SLA 6503 broad.mit.edu 37 8 134060111 134060111 + Missense_Mutation SNP C G G TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr8:134060111C>G uc003ytz.2 - 6 1148 c.316G>C c.(316-318)GGC>CGC p.G106R TG_uc003ytw.2_Intron|TG_uc010mdw.2_Intron|TG_uc011ljb.1_Intron|TG_uc011ljc.1_Intron|SLA_uc011lje.1_Missense_Mutation_p.G123R|SLA_uc011ljf.1_5'UTR|SLA_uc011ljg.1_Missense_Mutation_p.G123R|SLA_uc010mdy.1_Missense_Mutation_p.G106R|SLA_uc011ljd.1_Missense_Mutation_p.G146R NM_001045556 NP_001039021 Q13239 SLAP1_HUMAN Src-like-adaptor isoform a 106 SH2. endosome SH3/SH2 adaptor activity lung(1)|liver(1) 2 all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037) BRCA - Breast invasive adenocarcinoma(115;0.000701) ATGAAGGAGCCGACCTTTGTG 0.577 4 74 --- --- --- --- PASS CYP11B1 1584 broad.mit.edu 37 8 143956706 143956706 + Silent SNP G A A rs138706121 TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr8:143956706G>A uc003yxi.2 - 7 1151 c.1144C>T c.(1144-1146)CTG>TTG p.L382L CYP11B1_uc010mex.2_Silent_p.L81L|CYP11B1_uc003yxh.2_Silent_p.L98L|CYP11B1_uc003yxj.2_Silent_p.L382L|CYP11B1_uc010mey.2_Silent_p.L453L NM_000497 NP_000488 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, 382 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity ovary(3) 3 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) ACTCGCTCCAGAAACAGACCC 0.607 Familial_Hyperaldosteronism_type_I 4 39 --- --- --- --- PASS PLEC 5339 broad.mit.edu 37 8 145006636 145006636 + Nonsense_Mutation SNP C A A TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr8:145006636C>A uc003zaf.1 - 16 2490 c.2320G>T c.(2320-2322)GAG>TAG p.E774* PLEC_uc003zab.1_Nonsense_Mutation_p.E637*|PLEC_uc003zac.1_Nonsense_Mutation_p.E641*|PLEC_uc003zad.2_Nonsense_Mutation_p.E637*|PLEC_uc003zae.1_Nonsense_Mutation_p.E605*|PLEC_uc003zag.1_Nonsense_Mutation_p.E615*|PLEC_uc003zah.2_Nonsense_Mutation_p.E623*|PLEC_uc003zaj.2_Nonsense_Mutation_p.E664* NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 774 Spectrin 2.|Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 ACCTCCTCCTCCTCCTTCTCA 0.617 24 71 --- --- --- --- PASS CEP78 84131 broad.mit.edu 37 9 80879233 80879233 + Splice_Site SNP G A A TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr9:80879233G>A uc004akx.2 + 13 1901 c.1625_splice c.e13+1 p.G542_splice CEP78_uc004aky.3_Splice_Site_p.G543_splice|CEP78_uc010mpp.2_Splice_Site_p.G543_splice|CEP78_uc004akz.1_Splice_Site_p.G30_splice NM_032171 NP_115547 Q5JTW2 CEP78_HUMAN centrosomal protein 78kDa isoform b G2/M transition of mitotic cell cycle centrosome|cytosol ovary(1) 1 AAGATGCTGGGTTAGTTACTT 0.378 16 35 --- --- --- --- PASS SFMBT2 57713 broad.mit.edu 37 10 7409714 7409714 + Silent SNP G A A rs113302721 TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr10:7409714G>A uc009xio.1 - 4 424 c.333C>T c.(331-333)TAC>TAT p.Y111Y SFMBT2_uc001ijn.1_Silent_p.Y111Y|SFMBT2_uc010qay.1_Silent_p.Y111Y|SFMBT2_uc001ijo.1_Silent_p.Y111Y NM_001029880 NP_001025051 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 111 MBT 1. regulation of transcription, DNA-dependent nucleus ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1) 8 GGTCCTCCCCGTAACCGCAGT 0.587 11 62 --- --- --- --- PASS VIM 7431 broad.mit.edu 37 10 17278303 17278303 + Silent SNP G T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr10:17278303G>T uc001iou.2 + 9 1697 c.1284G>T c.(1282-1284)CTG>CTT p.L428L VIM_uc001iov.1_Intron|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Silent_p.L428L|VIM_uc001ioy.1_Silent_p.L341L|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Silent_p.L386L|VIM_uc001ipc.1_Intron NM_003380 NP_003371 P08670 VIME_HUMAN vimentin 428 Tail. cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding cytosol|intermediate filament protein C-terminus binding|structural constituent of cytoskeleton large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 AAACTAATCTGGATTCACTCC 0.333 63 188 --- --- --- --- PASS VIM 7431 broad.mit.edu 37 10 17278304 17278304 + Missense_Mutation SNP G T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr10:17278304G>T uc001iou.2 + 9 1698 c.1285G>T c.(1285-1287)GAT>TAT p.D429Y VIM_uc001iov.1_Intron|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Missense_Mutation_p.D429Y|VIM_uc001ioy.1_Missense_Mutation_p.D342Y|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Missense_Mutation_p.D387Y|VIM_uc001ipc.1_Intron NM_003380 NP_003371 P08670 VIME_HUMAN vimentin 429 Tail. cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding cytosol|intermediate filament protein C-terminus binding|structural constituent of cytoskeleton large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 AACTAATCTGGATTCACTCCC 0.338 62 189 --- --- --- --- PASS PTPLA 9200 broad.mit.edu 37 10 17645632 17645632 + Missense_Mutation SNP G A A TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr10:17645632G>A uc001ipg.2 - 4 445 c.410C>T c.(409-411)TCT>TTT p.S137F PTPLA_uc001iph.1_3'UTR NM_014241 NP_055056 B0YJ81 HACD1_HUMAN protein tyrosine phosphatase-like, member A 137 Cytoplasmic (Potential). fatty acid biosynthetic process|multicellular organismal development|signal transduction endoplasmic reticulum membrane|integral to membrane lyase activity|protein tyrosine phosphatase activity central_nervous_system(1)|skin(1) 2 CACAATCACAGAAGTAGGTAC 0.333 16 86 --- --- --- --- PASS MPP7 143098 broad.mit.edu 37 10 28348669 28348669 + Missense_Mutation SNP G A A TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr10:28348669G>A uc001iua.1 - 16 1612 c.1208C>T c.(1207-1209)ACC>ATC p.T403I MPP7_uc009xkz.1_RNA|MPP7_uc001iub.1_Missense_Mutation_p.T403I|MPP7_uc009xla.2_Missense_Mutation_p.T403I|MPP7_uc010qdv.1_RNA NM_173496 NP_775767 Q5T2T1 MPP7_HUMAN palmitoylated membrane protein 7 403 Guanylate kinase-like. establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity ovary(1) 1 TGCTCTGGTGGTATCTATGAT 0.338 34 64 --- --- --- --- PASS GDF2 2658 broad.mit.edu 37 10 48414384 48414384 + Missense_Mutation SNP G T T rs139154868 TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr10:48414384G>T uc001jfa.1 - 2 647 c.484C>A c.(484-486)CCC>ACC p.P162T NM_016204 NP_057288 Q9UK05 GDF2_HUMAN growth differentiation factor 2 precursor 162 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity ovary(2)|skin(1) 3 TCATGAGAGGGGTCCACGTGA 0.502 6 39 --- --- --- --- PASS PCDH15 65217 broad.mit.edu 37 10 55582652 55582652 + Missense_Mutation SNP T G G TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr10:55582652T>G uc001jju.1 - 33 5229 c.4834A>C c.(4834-4836)ACT>CCT p.T1612P PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.T1609P|PCDH15_uc010qhw.1_Missense_Mutation_p.T1572P|PCDH15_uc010qhx.1_Missense_Mutation_p.T1543P|PCDH15_uc010qhy.1_Missense_Mutation_p.T1619P|PCDH15_uc010qhz.1_Missense_Mutation_p.T1614P|PCDH15_uc010qia.1_Missense_Mutation_p.T1592P|PCDH15_uc010qib.1_Missense_Mutation_p.T1589P NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1612 Cytoplasmic (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) CAGATTCCAGTGTTTTCATTT 0.438 HNSCC(58;0.16) 30 184 --- --- --- --- PASS HNRNPH3 3189 broad.mit.edu 37 10 70097753 70097753 + Missense_Mutation SNP G T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr10:70097753G>T uc001jnw.3 + 3 480 c.251G>T c.(250-252)AGG>ATG p.R84M HNRNPH3_uc001jnx.3_Missense_Mutation_p.R84M|HNRNPH3_uc009xpu.2_Translation_Start_Site|HNRNPH3_uc010qiv.1_Intron|HNRNPH3_uc001jny.3_Missense_Mutation_p.R35M NM_012207 NP_036339 P31942 HNRH3_HUMAN heterogeneous nuclear ribonucleoprotein H3 84 RRM 1. nuclear mRNA splicing, via spliceosome heterogeneous nuclear ribonucleoprotein complex nucleotide binding|protein binding|RNA binding ovary(2) 2 ATAGGGCACAGGTGGGGATGG 0.478 28 68 --- --- --- --- PASS HNRNPH3 3189 broad.mit.edu 37 10 70097754 70097754 + Splice_Site SNP G T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr10:70097754G>T uc001jnw.3 + 3 480 c.251_splice c.e3+1 p.R84_splice HNRNPH3_uc001jnx.3_Splice_Site_p.R84_splice|HNRNPH3_uc009xpu.2_5'UTR|HNRNPH3_uc010qiv.1_Intron|HNRNPH3_uc001jny.3_Splice_Site_p.R35_splice NM_012207 NP_036339 P31942 HNRH3_HUMAN heterogeneous nuclear ribonucleoprotein H3 nuclear mRNA splicing, via spliceosome heterogeneous nuclear ribonucleoprotein complex nucleotide binding|protein binding|RNA binding ovary(2) 2 TAGGGCACAGGTGGGGATGGA 0.473 28 68 --- --- --- --- PASS PPA1 5464 broad.mit.edu 37 10 71969329 71969329 + Silent SNP T A A TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr10:71969329T>A uc001jqv.1 - 7 731 c.624A>T c.(622-624)GCA>GCT p.A208A NM_021129 NP_066952 Q15181 IPYR_HUMAN pyrophosphatase 1 208 diphosphate metabolic process|tRNA aminoacylation for protein translation cytosol inorganic diphosphatase activity|magnesium ion binding breast(1) 1 CTTTAAATTCTGCATTAAACG 0.353 43 64 --- --- --- --- PASS C10orf11 83938 broad.mit.edu 37 10 77542758 77542758 + Missense_Mutation SNP G T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr10:77542758G>T uc001jxi.2 + 1 240 c.25G>T c.(25-27)GGC>TGC p.G9C NM_032024 NP_114413 Q9H2I8 CJ011_HUMAN chromosome 10 open reading frame 11 9 LRR 1. 0 Prostate(51;0.0095)|all_epithelial(25;0.0221) GTCACTCAGCGGCAATCATTC 0.408 3 69 --- --- --- --- PASS CPEB3 22849 broad.mit.edu 37 10 93999117 93999117 + Missense_Mutation SNP G C C TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr10:93999117G>C uc001khw.1 - 2 1164 c.991C>G c.(991-993)CTG>GTG p.L331V CPEB3_uc001khu.1_Missense_Mutation_p.L331V|CPEB3_uc001khv.1_Missense_Mutation_p.L331V|CPEB3_uc010qnn.1_Missense_Mutation_p.L331V NM_014912 NP_055727 Q8NE35 CPEB3_HUMAN cytoplasmic polyadenylation element binding 331 nucleotide binding|RNA binding 0 Colorectal(252;0.0869) AATGGCAACAGATTGTTACCA 0.537 4 24 --- --- --- --- PASS C10orf90 118611 broad.mit.edu 37 10 128150141 128150141 + Silent SNP G A A TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr10:128150141G>A uc001ljq.2 - 5 1669 c.1548C>T c.(1546-1548)TGC>TGT p.C516C C10orf90_uc001ljp.2_Silent_p.C372C|C10orf90_uc010qum.1_Silent_p.C613C|C10orf90_uc001ljo.2_RNA NM_001004298 NP_001004298 Q96M02 CJ090_HUMAN hypothetical protein LOC118611 516 ovary(1)|skin(1) 2 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) CCAAGTCACAGCATGTGTAAT 0.488 4 36 --- --- --- --- PASS PAOX 196743 broad.mit.edu 37 10 135204834 135204834 + Missense_Mutation SNP G A A TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr10:135204834G>A uc001lmv.2 + 7 1491 c.1411G>A c.(1411-1413)GGG>AGG p.G471R PAOX_uc001lmw.2_RNA|PAOX_uc001lmx.2_Missense_Mutation_p.G418E|PAOX_uc001lmy.2_3'UTR|PAOX_uc001lmz.2_RNA|PAOX_uc001lna.2_RNA|PAOX_uc001lnb.2_RNA|PAOX_uc001lnc.2_RNA|MTG1_uc001lnd.2_5'Flank NM_152911 NP_690875 Q6QHF9 PAOX_HUMAN polyamine oxidase isoform 1 609 polyamine biosynthetic process|xenobiotic metabolic process peroxisomal matrix polyamine oxidase activity 0 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06) CCTGTTTGCGGGGGAAGCCAC 0.592 29 121 --- --- --- --- PASS PDDC1 347862 broad.mit.edu 37 11 774114 774114 + Splice_Site SNP C T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr11:774114C>T uc001lrc.2 - 3 167 c.142_splice c.e3-1 p.G48_splice PDDC1_uc010qwm.1_Splice_Site|PDDC1_uc001lrd.2_Splice_Site_p.G48_splice|PDDC1_uc001lrf.1_Splice_Site_p.G48_splice|PDDC1_uc001lrg.1_Splice_Site|PDDC1_uc009ycg.2_Splice_Site|PDDC1_uc010qwn.1_Splice_Site|PDDC1_uc010qwo.1_Splice_Site|PDDC1_uc010qwp.1_Splice_Site_p.G48_splice|PDDC1_uc010qwq.1_Splice_Site|PDDC1_uc010qwr.1_Splice_Site_p.G48_splice|PDDC1_uc010qws.1_Splice_Site NM_182612 NP_872418 Q8NB37 PDDC1_HUMAN Parkinson disease 7 domain containing 1 extracellular region 0 all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198) all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703) TGGCTTTCCCCTGGAGAAGCA 0.602 10 37 --- --- --- --- PASS OR56A4 120793 broad.mit.edu 37 11 6023942 6023942 + Missense_Mutation SNP G C C TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr11:6023942G>C uc010qzv.1 - 1 437 c.437C>G c.(436-438)TCG>TGG p.S146W NM_001005179 NP_001005179 Q8NGH8 O56A4_HUMAN olfactory receptor, family 56, subfamily A, 94 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAAGCTGATCGACCTGAGGTC 0.547 20 65 --- --- --- --- PASS AMPD3 272 broad.mit.edu 37 11 10514980 10514980 + Missense_Mutation SNP G A A TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr11:10514980G>A uc001mio.1 + 7 1359 c.1024G>A c.(1024-1026)GAC>AAC p.D342N AMPD3_uc010rbz.1_Missense_Mutation_p.D183N|AMPD3_uc001min.1_Missense_Mutation_p.D351N|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Missense_Mutation_p.D349N|AMPD3_uc009yfy.2_Missense_Mutation_p.D342N NM_001025389 NP_001020560 Q01432 AMPD3_HUMAN adenosine monophosphate deaminase 3 isoform 1B 342 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) GACGGAGCCTGACAGGACTGT 0.602 21 90 --- --- --- --- PASS AMPD3 272 broad.mit.edu 37 11 10526199 10526199 + Missense_Mutation SNP C T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr11:10526199C>T uc001mio.1 + 14 2455 c.2120C>T c.(2119-2121)TCG>TTG p.S707L AMPD3_uc010rbz.1_Missense_Mutation_p.S548L|AMPD3_uc001min.1_Missense_Mutation_p.S716L|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Missense_Mutation_p.S714L|AMPD3_uc009yfy.2_Missense_Mutation_p.S707L NM_001025389 NP_001020560 Q01432 AMPD3_HUMAN adenosine monophosphate deaminase 3 isoform 1B 707 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) AGCGGCCTCTCGCATCAGGTA 0.438 14 60 --- --- --- --- PASS MRGPRX4 117196 broad.mit.edu 37 11 18195510 18195510 + Missense_Mutation SNP G A A TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr11:18195510G>A uc001mnv.1 + 1 1127 c.707G>A c.(706-708)GGG>GAG p.G236E NM_054032 NP_473373 Q96LA9 MRGX4_HUMAN MAS-related GPR, member X4 236 Helical; Name=6; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 GGCATTCTGGGGGCCCTAATT 0.532 9 51 --- --- --- --- PASS KCNA4 3739 broad.mit.edu 37 11 30033613 30033613 + Missense_Mutation SNP G T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr11:30033613G>T uc001msk.2 - 2 1765 c.613C>A c.(613-615)CCT>ACT p.P205T NM_002233 NP_002224 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related 205 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 CTCTTTTCAGGGTCTCCCAAC 0.453 8 55 --- --- --- --- PASS MYBPC3 4607 broad.mit.edu 37 11 47355472 47355472 + Splice_Site SNP C T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr11:47355472C>T uc001nfa.3 - 27 3049 c.2994_splice c.e27+1 p.Q998_splice NM_000256 NP_000247 Q14896 MYPC3_HUMAN myosin binding protein C, cardiac cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding ovary(2)|central_nervous_system(1) 3 Lung(87;0.176) GCCAGTCCCACCTGGAAAGGG 0.597 3 8 --- --- --- --- PASS CTNND1 1500 broad.mit.edu 37 11 57575873 57575873 + Silent SNP C T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr11:57575873C>T uc001nmc.3 + 14 2674 c.2103C>T c.(2101-2103)TAC>TAT p.Y701Y CTNND1_uc001nlh.1_Silent_p.Y701Y|CTNND1_uc001nlu.3_Silent_p.Y594Y|CTNND1_uc001nlt.3_Silent_p.Y594Y|CTNND1_uc001nls.3_Silent_p.Y594Y|CTNND1_uc001nlw.3_Silent_p.Y594Y|CTNND1_uc001nmf.3_Silent_p.Y701Y|CTNND1_uc001nmd.3_Silent_p.Y647Y|CTNND1_uc001nlk.3_Silent_p.Y647Y|CTNND1_uc001nme.3_Silent_p.Y695Y|CTNND1_uc001nll.3_Silent_p.Y641Y|CTNND1_uc001nmg.3_Silent_p.Y641Y|CTNND1_uc001nlj.3_Silent_p.Y641Y|CTNND1_uc001nlr.3_Silent_p.Y641Y|CTNND1_uc001nlp.3_Silent_p.Y641Y|CTNND1_uc001nlx.3_Silent_p.Y378Y|CTNND1_uc001nlz.3_Silent_p.Y378Y|CTNND1_uc009ymn.2_Silent_p.Y372Y|CTNND1_uc001nlm.3_Silent_p.Y695Y|CTNND1_uc001nly.3_Silent_p.Y372Y|CTNND1_uc001nmb.3_Silent_p.Y372Y|CTNND1_uc001nma.3_Silent_p.Y372Y|CTNND1_uc001nmi.3_Silent_p.Y600Y|CTNND1_uc001nmh.3_Silent_p.Y695Y|CTNND1_uc001nlq.3_Silent_p.Y600Y|CTNND1_uc001nln.3_Silent_p.Y695Y|CTNND1_uc001nli.3_Silent_p.Y695Y|CTNND1_uc001nlo.3_Silent_p.Y594Y|CTNND1_uc001nlv.3_Silent_p.Y594Y NM_001085458 NP_001078927 O60716 CTND1_HUMAN catenin, delta 1 isoform 1ABC 701 ARM 8. adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytosol|midbody|nucleus cadherin binding|protein binding|receptor binding breast(4)|ovary(1)|kidney(1) 6 all_epithelial(135;0.155) ATGGTCGATACATCCGCTCTG 0.443 36 98 --- --- --- --- PASS RELA 5970 broad.mit.edu 37 11 65427630 65427630 + Missense_Mutation SNP C G G TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr11:65427630C>G uc001ofg.2 - 5 532 c.392G>C c.(391-393)AGT>ACT p.S131T RELA_uc001ofh.2_Missense_Mutation_p.S131T|RELA_uc010ron.1_Missense_Mutation_p.S142T|RELA_uc009yqr.2_Missense_Mutation_p.S78T|RELA_uc001ofe.2_Missense_Mutation_p.S131T|RELA_uc001off.2_Missense_Mutation_p.S131T|RELA_uc009yqs.1_5'Flank NM_021975 NP_068810 Q04206 TF65_HUMAN v-rel reticuloendotheliosis viral oncogene 131 RHD. anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|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 cytosol|transcription factor complex activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding lung(3)|ovary(1) 4 GATGCGCTGACTGATAGCCTG 0.612 28 80 --- --- --- --- PASS FAT3 120114 broad.mit.edu 37 11 92532480 92532480 + Missense_Mutation SNP A T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr11:92532480A>T uc001pdj.3 + 9 6318 c.6301A>T c.(6301-6303)ACT>TCT p.T2101S NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 2101 Cadherin 19.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GGAACCCGGGACTCTGATTTA 0.458 TCGA Ovarian(4;0.039) 5 29 --- --- --- --- PASS C11orf70 85016 broad.mit.edu 37 11 101946619 101946619 + Missense_Mutation SNP G C C TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr11:101946619G>C uc001pgp.2 + 5 479 c.451G>C c.(451-453)GAC>CAC p.D151H C11orf70_uc001pgo.2_Missense_Mutation_p.R95T|C11orf70_uc001pgq.2_Missense_Mutation_p.D113H NM_032930 NP_116319 Q9BRQ4 CK070_HUMAN hypothetical protein LOC85016 151 skin(1) 1 all_epithelial(12;0.0137) Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137) Lung(13;0.245) BRCA - Breast invasive adenocarcinoma(274;0.0335) GCTAGTGGAAGACTCAGAAAA 0.313 17 101 --- --- --- --- PASS KDELC2 143888 broad.mit.edu 37 11 108357165 108357165 + Missense_Mutation SNP G A A TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr11:108357165G>A uc001pkj.2 - 3 469 c.403C>T c.(403-405)CCA>TCA p.P135S KDELC2_uc001pki.2_Missense_Mutation_p.P79S NM_153705 NP_714916 Q7Z4H8 KDEL2_HUMAN KDEL (Lys-Asp-Glu-Leu) containing 2 precursor 135 endoplasmic reticulum lumen ovary(1) 1 all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14) TGGTACACTGGTCCTAGGGAA 0.468 13 66 --- --- --- --- PASS TECTA 7007 broad.mit.edu 37 11 121028738 121028738 + Silent SNP C T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr11:121028738C>T uc010rzo.1 + 13 4494 c.4494C>T c.(4492-4494)TTC>TTT p.F1498F NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 1498 VWFD 4. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) TCCGCACCTTCGACGGCGCCT 0.642 23 18 --- --- --- --- PASS SCN3B 55800 broad.mit.edu 37 11 123513295 123513295 + Missense_Mutation SNP C T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr11:123513295C>T uc001pza.1 - 4 711 c.304G>A c.(304-306)GAC>AAC p.D102N SCN3B_uc001pzb.1_Missense_Mutation_p.D102N NM_001040151 NP_001035241 Q9NY72 SCN3B_HUMAN voltage-gated sodium channel beta-3 subunit 102 Ig-like C2-type.|Extracellular (Potential). axon guidance integral to membrane|plasma membrane voltage-gated sodium channel activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227) ATGGACACGTCCTGCAGGTCC 0.572 44 111 --- --- --- --- PASS IQSEC3 440073 broad.mit.edu 37 12 250351 250351 + Missense_Mutation SNP G A A TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr12:250351G>A uc001qhw.1 + 2 1150 c.1144G>A c.(1144-1146)GGT>AGT p.G382S IQSEC3_uc001qhu.1_Missense_Mutation_p.G382S|uc001qhv.1_RNA NM_015232 NP_056047 Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 685 SEC7. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|large_intestine(1)|skin(1) 4 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) CACCCCCATCGGTGTGGCCCA 0.602 22 123 --- --- --- --- PASS CCDC77 84318 broad.mit.edu 37 12 549899 549899 + Missense_Mutation SNP G C C TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr12:549899G>C uc001qig.2 + 11 1338 c.1158G>C c.(1156-1158)GAG>GAC p.E386D CCDC77_uc009zdk.2_Missense_Mutation_p.E354D|CCDC77_uc010sdp.1_Missense_Mutation_p.E354D|CCDC77_uc010sdq.1_Missense_Mutation_p.E354D NM_032358 NP_115734 Q9BR77 CCD77_HUMAN coiled-coil domain containing 77 isoform a 386 Potential. centrosome ovary(1) 1 all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156) OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033) TGAGGAGAGAGATCTTCAAGG 0.453 16 77 --- --- --- --- PASS NCAPD2 9918 broad.mit.edu 37 12 6638690 6638690 + Missense_Mutation SNP C G G TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr12:6638690C>G uc001qoo.2 + 28 3630 c.3584C>G c.(3583-3585)TCC>TGC p.S1195C NCAPD2_uc010sfd.1_Missense_Mutation_p.S1150C NM_014865 NP_055680 Q15021 CND1_HUMAN non-SMC condensin I complex, subunit D2 1195 cell division|mitotic chromosome condensation condensin core heterodimer|cytoplasm histone binding ovary(2)|lung(1)|breast(1)|kidney(1) 5 CAGCTCCTCTCCTACATCACC 0.597 31 81 --- --- --- --- PASS KLRB1 3820 broad.mit.edu 37 12 9754178 9754178 + Missense_Mutation SNP G C C TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr12:9754178G>C uc010sgt.1 - 2 165 c.103C>G c.(103-105)CCT>GCT p.P35A NM_002258 NP_002249 Q12918 KLRB1_HUMAN killer cell lectin-like receptor subfamily B, 35 Cytoplasmic (Potential). cell surface receptor linked signaling pathway integral to membrane|plasma membrane sugar binding|transmembrane receptor activity 0 TGATGCCAAGGTGAACCCTGA 0.363 8 60 --- --- --- --- PASS KLRC3 3823 broad.mit.edu 37 12 10588420 10588420 + Missense_Mutation SNP C G G rs147031208 TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr12:10588420C>G uc001qyh.2 - 1 173 c.166G>C c.(166-168)GAT>CAT p.D56H KLRC2_uc010she.1_Missense_Mutation_p.D56H|KLRC2_uc001qyk.2_Missense_Mutation_p.D56H NM_002261 NP_002252 Q07444 NKG2E_HUMAN killer cell lectin-like receptor subfamily C, 56 Cytoplasmic (Potential). cellular defense response integral to membrane sugar binding|transmembrane receptor activity ovary(2)|skin(1) 3 TATATTTTATCAATCCCTTGA 0.343 29 201 --- --- --- --- PASS KIAA0528 9847 broad.mit.edu 37 12 22637741 22637741 + Silent SNP G A A TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr12:22637741G>A uc001rfq.2 - 13 1668 c.1440C>T c.(1438-1440)CTC>CTT p.L480L KIAA0528_uc010sir.1_Silent_p.L295L|KIAA0528_uc010sis.1_Silent_p.L480L|KIAA0528_uc010sit.1_Silent_p.L482L|KIAA0528_uc010siu.1_Silent_p.L480L|KIAA0528_uc001rfr.2_Silent_p.L471L|KIAA0528_uc009ziy.1_Silent_p.L482L NM_014802 NP_055617 Q86YS7 K0528_HUMAN hypothetical protein LOC9847 480 protein binding ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1) 4 AGCAATATGTGAGATGAGCTG 0.338 34 86 --- --- --- --- PASS KIAA0528 9847 broad.mit.edu 37 12 22637746 22637746 + Missense_Mutation SNP G A A TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr12:22637746G>A uc001rfq.2 - 13 1663 c.1435C>T c.(1435-1437)CAT>TAT p.H479Y KIAA0528_uc010sir.1_Missense_Mutation_p.H294Y|KIAA0528_uc010sis.1_Missense_Mutation_p.H479Y|KIAA0528_uc010sit.1_Missense_Mutation_p.H481Y|KIAA0528_uc010siu.1_Missense_Mutation_p.H479Y|KIAA0528_uc001rfr.2_Missense_Mutation_p.H470Y|KIAA0528_uc009ziy.1_Missense_Mutation_p.H481Y NM_014802 NP_055617 Q86YS7 K0528_HUMAN hypothetical protein LOC9847 479 protein binding ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1) 4 TATGTGAGATGAGCTGGAAAT 0.333 33 82 --- --- --- --- PASS LRMP 4033 broad.mit.edu 37 12 25243095 25243095 + Silent SNP G A A TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr12:25243095G>A uc001rgh.2 + 13 1604 c.570G>A c.(568-570)TTG>TTA p.L190L LRMP_uc010sja.1_Silent_p.L190L|LRMP_uc010sjb.1_Silent_p.L137L|LRMP_uc001rgi.2_RNA|LRMP_uc010sjc.1_Silent_p.L190L|LRMP_uc010sjd.1_Silent_p.L137L NM_006152 NP_006143 Q12912 LRMP_HUMAN lymphoid-restricted membrane protein 246 Potential.|Cytoplasmic (Potential). vesicle fusion|vesicle targeting endoplasmic reticulum membrane|integral to plasma membrane ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11) AAGAAAATTTGAAGAAAGAAA 0.313 57 91 --- --- --- --- PASS C12orf40 283461 broad.mit.edu 37 12 40114814 40114814 + Missense_Mutation SNP G T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr12:40114814G>T uc001rmc.2 + 13 1887 c.1720G>T c.(1720-1722)GCC>TCC p.A574S C12orf40_uc009zjv.1_Intron NM_001031748 NP_001026918 Q86WS4 CL040_HUMAN hypothetical protein LOC283461 574 ovary(6) 6 GTGCAATTCAGCCCACATTTT 0.383 16 70 --- --- --- --- PASS SCN8A 6334 broad.mit.edu 37 12 52162811 52162811 + Missense_Mutation SNP C G G TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr12:52162811C>G uc001ryw.2 + 17 3242 c.3064C>G c.(3064-3066)CAC>GAC p.H1022D SCN8A_uc010snl.1_Missense_Mutation_p.H887D NM_014191 NP_055006 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha 1022 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity ovary(7) 7 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) CATGCAGGCCCACTTTAAGCA 0.517 8 37 --- --- --- --- PASS PMCH 5367 broad.mit.edu 37 12 102590466 102590466 + Missense_Mutation SNP C T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr12:102590466C>T uc001tjl.2 - 3 528 c.462G>A c.(460-462)ATG>ATA p.M154I C12orf48_uc001tjg.2_3'UTR|C12orf48_uc010swa.1_3'UTR|C12orf48_uc001tjf.2_3'UTR|C12orf48_uc001tjh.2_3'UTR|C12orf48_uc010swb.1_3'UTR|C12orf48_uc009zuc.2_3'UTR|C12orf48_uc001tjj.2_3'UTR|C12orf48_uc001tjk.2_3'UTR|C12orf48_uc009zud.2_3'UTR NM_002674 NP_002665 P20382 MCH_HUMAN pro-melanin-concentrating hormone 154 cell differentiation|neuropeptide signaling pathway|spermatogenesis|synaptic transmission melanin-concentrating hormone activity 0 CTCTTCCCAGCATACATCTGA 0.343 86 201 --- --- --- --- PASS PIWIL1 9271 broad.mit.edu 37 12 130841573 130841573 + Silent SNP T C C TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr12:130841573T>C uc001uik.2 + 13 1605 c.1515T>C c.(1513-1515)TAT>TAC p.Y505Y PIWIL1_uc001uij.1_Silent_p.Y505Y NM_004764 NP_004755 Q96J94 PIWL1_HUMAN piwi-like 1 505 gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) GAAGAAATTATGAAGCAGCCA 0.358 16 43 --- --- --- --- PASS FLT1 2321 broad.mit.edu 37 13 28897007 28897007 + Missense_Mutation SNP T C C TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr13:28897007T>C uc001usb.3 - 21 3158 c.2873A>G c.(2872-2874)GAT>GGT p.D958G FLT1_uc010aap.2_5'Flank|FLT1_uc010aaq.2_Missense_Mutation_p.D83G|FLT1_uc001usa.3_Missense_Mutation_p.D176G NM_002019 NP_002010 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 isoform 1 958 Cytoplasmic (Potential).|Protein kinase. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) GGTGACGCTATCTAGTCTTGG 0.478 37 207 --- --- --- --- PASS NALCN 259232 broad.mit.edu 37 13 101763505 101763505 + Silent SNP G A A TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr13:101763505G>A uc001vox.1 - 19 2454 c.2265C>T c.(2263-2265)AGC>AGT p.S755S NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 755 Cytoplasmic (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GATGCTGCACGCTGAGGATTG 0.512 34 287 --- --- --- --- PASS RGS6 9628 broad.mit.edu 37 14 72985064 72985064 + Missense_Mutation SNP G T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr14:72985064G>T uc001xna.3 + 15 1620 c.1097G>T c.(1096-1098)TGG>TTG p.W366L RGS6_uc010ttn.1_Missense_Mutation_p.W366L|RGS6_uc001xmx.3_Missense_Mutation_p.W366L|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.W366L|RGS6_uc010ttp.1_Missense_Mutation_p.W297L|RGS6_uc001xmz.1_Missense_Mutation_p.W227L NM_004296 NP_004287 P49758 RGS6_HUMAN regulator of G-protein signalling 6 366 RGS. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity upper_aerodigestive_tract(1)|lung(1)|skin(1) 3 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) TTCAGGTTCTGGCTGGCTGTC 0.537 3 51 --- --- --- --- PASS OCA2 4948 broad.mit.edu 37 15 28202861 28202861 + Missense_Mutation SNP C T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr15:28202861C>T uc001zbh.3 - 16 1767 c.1657G>A c.(1657-1659)GTC>ATC p.V553I OCA2_uc010ayv.2_Missense_Mutation_p.V529I NM_000275 NP_000266 Q04671 P_HUMAN oculocutaneous albinism II 553 Cytoplasmic (Potential). eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding ovary(3)|breast(1)|pancreas(1) 5 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) AGGCGCCAGACGTGAATCTCG 0.617 Oculocutaneous_Albinism 15 35 --- --- --- --- PASS NUSAP1 51203 broad.mit.edu 37 15 41650394 41650394 + Missense_Mutation SNP G C C TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr15:41650394G>C uc001zns.3 + 6 828 c.598G>C c.(598-600)GAT>CAT p.D200H NUSAP1_uc001znq.3_Missense_Mutation_p.D5H|NUSAP1_uc001znr.3_Missense_Mutation_p.D200H|NUSAP1_uc010bce.2_Missense_Mutation_p.D200H|NUSAP1_uc001znt.3_Missense_Mutation_p.D185H|NUSAP1_uc001znv.3_Missense_Mutation_p.D199H|NUSAP1_uc001znu.3_Missense_Mutation_p.D199H|NUSAP1_uc010ucw.1_Missense_Mutation_p.D177H|NUSAP1_uc001znw.3_Missense_Mutation_p.D5H NM_016359 NP_057443 Q9BXS6 NUSAP_HUMAN nucleolar and spindle associated protein 1 200 cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis chromosome|cytoplasm|nucleolus DNA binding 0 all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143) OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168) GGAGTCCATTGATCAATATAT 0.264 11 45 --- --- --- --- PASS TLN2 83660 broad.mit.edu 37 15 63084980 63084980 + Silent SNP G C C TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr15:63084980G>C uc002alb.3 + 43 5877 c.5877G>C c.(5875-5877)ACG>ACC p.T1959T TLN2_uc002alc.3_Silent_p.T352T NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN talin 2 1959 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2) 11 GTGCCGTCACGGAAAAGGTAA 0.562 9 32 --- --- --- --- PASS SGK269 79834 broad.mit.edu 37 15 77471165 77471165 + Missense_Mutation SNP G C C TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr15:77471165G>C uc002bcm.2 - 3 3412 c.3104C>G c.(3103-3105)TCT>TGT p.S1035C SGK269_uc002bcn.2_Missense_Mutation_p.S1035C NM_024776 NP_079052 Q9H792 PEAK1_HUMAN NKF3 kinase family member 1035 S -> F (in a metastatic melanoma sample; somatic mutation). cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding p.S1035F(1) 0 STAD - Stomach adenocarcinoma(199;0.124) TGATGGAGAAGAATGACTCCT 0.403 23 58 --- --- --- --- PASS MEF2A 4205 broad.mit.edu 37 15 100246988 100246988 + Missense_Mutation SNP G A A TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr15:100246988G>A uc010urw.1 + 9 1302 c.943G>A c.(943-945)GTG>ATG p.V315M MEF2A_uc010urv.1_Missense_Mutation_p.V245M|MEF2A_uc010bos.2_Missense_Mutation_p.V305M|MEF2A_uc002bvf.2_Missense_Mutation_p.V307M|MEF2A_uc002bve.2_Missense_Mutation_p.V313M|MEF2A_uc002bvg.2_Missense_Mutation_p.V305M|MEF2A_uc002bvi.2_Missense_Mutation_p.V305M|MEF2A_uc010bot.2_Missense_Mutation_p.V237M NM_005587 NP_005578 Q02078 MEF2A_HUMAN myocyte enhancer factor 2A isoform 1 315 apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development nuclear chromatin|nucleoplasm activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding ovary(1) 1 Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163) OV - Ovarian serous cystadenocarcinoma(32;0.00085) TACCCCAGTCGTGTCTGTGAC 0.498 12 33 --- --- --- --- PASS BTBD12 84464 broad.mit.edu 37 16 3658855 3658855 + Missense_Mutation SNP G T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr16:3658855G>T uc002cvp.2 - 2 738 c.111C>A c.(109-111)AGC>AGA p.S37R BTBD12_uc002cvq.1_Missense_Mutation_p.S37R NM_032444 NP_115820 Q8IY92 SLX4_HUMAN BTB (POZ) domain containing 12 37 Interaction with C20orf94, ERCC4 and MSH2. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding 0 CAGTTTTAAGGCTTTCAGGCT 0.468 Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia 19 120 --- --- --- --- PASS POLR3E 55718 broad.mit.edu 37 16 22319508 22319508 + Missense_Mutation SNP C A A TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr16:22319508C>A uc002dkk.2 + 4 283 c.127C>A c.(127-129)CCG>ACG p.P43T POLR3E_uc002dkj.1_Missense_Mutation_p.P43T|POLR3E_uc002dkm.2_Missense_Mutation_p.P7T|POLR3E_uc010vbr.1_Missense_Mutation_p.P43T|POLR3E_uc002dkl.2_Missense_Mutation_p.P43T|POLR3E_uc010vbs.1_Intron|POLR3E_uc010vbt.1_Missense_Mutation_p.F3L NM_018119 NP_060589 Q9NVU0 RPC5_HUMAN RNA polymerase III polypeptide E 43 innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA-directed RNA polymerase activity ovary(1)|central_nervous_system(1) 2 GBM - Glioblastoma multiforme(48;0.012) CGATGACATTCCGCACCTCTC 0.627 14 74 --- --- --- --- PASS CNGB1 1258 broad.mit.edu 37 16 57951265 57951265 + Missense_Mutation SNP C A A TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr16:57951265C>A uc002emt.2 - 21 2138 c.2073G>T c.(2071-2073)TGG>TGT p.W691C CNGB1_uc010cdh.2_Missense_Mutation_p.W685C NM_001297 NP_001288 Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 isoform 691 Helical; Name=H2; (Potential). sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(3)|pancreas(1) 4 CCATCAGCAGCCAGTGGTGGA 0.557 20 86 --- --- --- --- PASS FUK 197258 broad.mit.edu 37 16 70500096 70500096 + Missense_Mutation SNP C G G TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr16:70500096C>G uc002eyy.2 + 5 405 c.347C>G c.(346-348)CCC>CGC p.P116R FUK_uc010vmb.1_Missense_Mutation_p.P99R|FUK_uc010cft.2_Missense_Mutation_p.P148R|FUK_uc002eyz.2_Intron NM_145059 NP_659496 Q8N0W3 FUK_HUMAN fucokinase 116 cytoplasm ATP binding|fucokinase activity ovary(1) 1 Ovarian(137;0.0694) GTGGAGAACCCCGAGGCCCCC 0.637 41 55 --- --- --- --- PASS ZFHX3 463 broad.mit.edu 37 16 72845910 72845910 + Missense_Mutation SNP A C C TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr16:72845910A>C uc002fck.2 - 6 4230 c.3557T>G c.(3556-3558)CTG>CGG p.L1186R ZFHX3_uc002fcl.2_Missense_Mutation_p.L272R NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 1186 EEAIEDVEGPSETAADPEELAKDQEGGASSSQAEKELTDSP -> GEWSHRHGRPRLGLGVHLLETSRGLLFEGDVTDPAGPH VPY (in Ref. 5). muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2)|skin(2) 4 Ovarian(137;0.13) AGAATCTGTCAGCTCCTTCTC 0.522 23 54 --- --- --- --- PASS RFWD3 55159 broad.mit.edu 37 16 74695345 74695345 + Missense_Mutation SNP C A A TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr16:74695345C>A uc002fda.2 - 2 101 c.3G>T c.(1-3)ATG>ATT p.M1I RFWD3_uc010cgq.2_Missense_Mutation_p.M1I NM_018124 NP_060594 Q6PCD5 RFWD3_HUMAN ring finger and WD repeat domain 3 1 DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation nucleus MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding lung(2)|breast(1) 3 CTTCATGAGCCATCACTAGAG 0.393 67 206 --- --- --- --- PASS TRPV1 7442 broad.mit.edu 37 17 3474819 3474819 + Missense_Mutation SNP T A A TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr17:3474819T>A uc010vrr.1 - 14 2873 c.2346A>T c.(2344-2346)AGA>AGT p.R782S TRPV1_uc010vro.1_Missense_Mutation_p.R793S|TRPV1_uc010vrp.1_Missense_Mutation_p.R722S|TRPV1_uc010vrq.1_Missense_Mutation_p.R780S|TRPV1_uc010vrs.1_Missense_Mutation_p.R782S|TRPV1_uc010vrt.1_Missense_Mutation_p.R782S|TRPV1_uc010vru.1_Missense_Mutation_p.R782S NM_080706 NP_542437 Q8NER1 TRPV1_HUMAN transient receptor potential cation channel, 782 Interaction with calmodulin (By similarity).|Cytoplasmic (Potential).|Required for PIP2-mediated channel inhibition (By similarity). cell surface receptor linked signaling pathway|chemosensory behavior|thermoception cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane ATP binding|calcium channel activity|calmodulin binding ovary(1) 1 Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131) Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159) ACGCCTCACCTCTGCTTGACC 0.642 7 5 --- --- --- --- PASS AIPL1 23746 broad.mit.edu 37 17 6337412 6337412 + Missense_Mutation SNP A C C TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr17:6337412A>C uc002gcp.2 - 2 198 c.103T>G c.(103-105)TTT>GTT p.F35V AIPL1_uc002gcq.2_Intron|AIPL1_uc002gcr.2_Missense_Mutation_p.F35V|AIPL1_uc010clk.2_Intron|AIPL1_uc010cll.2_Missense_Mutation_p.F35V|AIPL1_uc002gcs.2_Missense_Mutation_p.F35V NM_014336 NP_055151 Q9NZN9 AIPL1_HUMAN aryl hydrocarbon receptor interacting 35 protein farnesylation|protein folding|visual perception cytoplasm|nucleus farnesylated protein binding|unfolded protein binding 0 COAD - Colon adenocarcinoma(228;0.141) CGGAAATGAAAGATCACCTAG 0.567 7 15 --- --- --- --- PASS PHF23 79142 broad.mit.edu 37 17 7139897 7139897 + Missense_Mutation SNP A C C TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr17:7139897A>C uc002gfa.2 - 4 576 c.349T>G c.(349-351)TCT>GCT p.S117A DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.1_Intron|PHF23_uc010cma.2_5'UTR NM_024297 NP_077273 Q9BUL5 PHF23_HUMAN PHD finger protein 23 117 zinc ion binding 0 TGCAGACGAGAGAAAGTGGAC 0.527 55 100 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7578457 7578457 + Missense_Mutation SNP C T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr17:7578457C>T uc002gim.2 - 5 667 c.473G>A c.(472-474)CGC>CAC p.R158H TP53_uc002gig.1_Missense_Mutation_p.R158H|TP53_uc002gih.2_Missense_Mutation_p.R158H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R26H|TP53_uc010cng.1_Missense_Mutation_p.R26H|TP53_uc002gii.1_Missense_Mutation_p.R26H|TP53_uc010cnh.1_Missense_Mutation_p.R158H|TP53_uc010cni.1_Missense_Mutation_p.R158H|TP53_uc002gij.2_Missense_Mutation_p.R158H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R65H|TP53_uc002gio.2_Missense_Mutation_p.R26H|TP53_uc010vug.1_Missense_Mutation_p.R119H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 158 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). 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.R158H(58)|p.R158L(55)|p.R158C(17)|p.R158G(10)|p.R158P(9)|p.0?(7)|p.R158R(6)|p.R158fs*12(5)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R158fs*11(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R65L(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.R26L(1)|p.V157fs*21(1)|p.R158fs*8(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) GGCCATGGCGCGGACGCGGGT 0.627 111 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) 36 45 --- --- --- --- PASS ERBB2 2064 broad.mit.edu 37 17 37864713 37864713 + Missense_Mutation SNP C T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr17:37864713C>T uc002hso.2 + 3 603 c.365C>T c.(364-366)CCG>CTG p.P122L ERBB2_uc002hsm.2_Missense_Mutation_p.P92L|ERBB2_uc010cwa.2_Missense_Mutation_p.P107L|ERBB2_uc002hsp.2_5'UTR|ERBB2_uc010cwb.2_Missense_Mutation_p.P122L|ERBB2_uc010wek.1_Intron|ERBB2_uc002hsl.2_Missense_Mutation_p.P92L|ERBB2_uc002hsn.1_Missense_Mutation_p.P122L NM_004448 NP_004439 P04626 ERBB2_HUMAN erbB-2 isoform a 122 Extracellular (Potential). cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1) 143 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) AATGGAGACCCGCTGAACAAT 0.602 1 A|Mis|O breast|ovarian|other tumour types|NSCLC|gastric TCGA GBM(5;<1E-08) 62 93 --- --- --- --- PASS DLX4 1748 broad.mit.edu 37 17 48050472 48050472 + Nonsense_Mutation SNP G T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr17:48050472G>T uc002ipv.2 + 2 590 c.319G>T c.(319-321)GAG>TAG p.E107* DLX4_uc002ipw.2_Nonsense_Mutation_p.E35* NM_138281 NP_612138 Q92988 DLX4_HUMAN distal-less homeobox 4 isoform a 107 multicellular organismal development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GGAACCCTCCGAGCGGCGCCC 0.662 15 19 --- --- --- --- PASS ANKRD12 23253 broad.mit.edu 37 18 9254528 9254528 + Silent SNP C G G TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr18:9254528C>G uc002knv.2 + 9 1520 c.1263C>G c.(1261-1263)GTC>GTG p.V421V ANKRD12_uc002knw.2_Silent_p.V398V|ANKRD12_uc002knx.2_Silent_p.V398V|ANKRD12_uc010dkx.1_Silent_p.V128V NM_015208 NP_056023 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 isoform 1 421 nucleus ovary(2)|central_nervous_system(1) 3 CATCTAGGGTCTTATATTCAA 0.323 25 152 --- --- --- --- PASS KIAA1468 57614 broad.mit.edu 37 18 59942704 59942704 + Missense_Mutation SNP G A A TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr18:59942704G>A uc002lil.2 + 22 3180 c.2965G>A c.(2965-2967)GAG>AAG p.E989K KIAA1468_uc002lik.1_Missense_Mutation_p.E985K|KIAA1468_uc010xel.1_Missense_Mutation_p.E989K|KIAA1468_uc002lim.2_Missense_Mutation_p.E667K NM_020854 NP_065905 Q9P260 K1468_HUMAN hypothetical protein LOC57614 989 binding ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1) 6 Colorectal(73;0.186) TAGAATGTTTGAGGTATGTCA 0.363 13 56 --- --- --- --- PASS SOCS6 9306 broad.mit.edu 37 18 67993357 67993357 + Missense_Mutation SNP G A A TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr18:67993357G>A uc002lkr.1 + 2 1769 c.1453G>A c.(1453-1455)GTC>ATC p.V485I SOCS6_uc010dqq.2_Missense_Mutation_p.V485I NM_004232 NP_004223 O14544 SOCS6_HUMAN suppressor of cytokine signaling 6 485 SH2. defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth cytoplasm large_intestine(1)|lung(1) 2 Esophageal squamous(42;0.129)|Colorectal(73;0.152) AACTTACCCCGTCAGACTGAC 0.458 15 73 --- --- --- --- PASS KCNG2 26251 broad.mit.edu 37 18 77659474 77659474 + Missense_Mutation SNP C G G TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr18:77659474C>G uc010xfl.1 + 2 1059 c.1059C>G c.(1057-1059)TTC>TTG p.F353L NM_012283 NP_036415 Q9UJ96 KCNG2_HUMAN potassium voltage-gated channel, subfamily G, 353 energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion voltage-gated potassium channel complex delayed rectifier potassium channel activity 0 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244) GCCGCGACTTCTCCAGCGTGC 0.716 5 20 --- --- --- --- PASS SBNO2 22904 broad.mit.edu 37 19 1108809 1108809 + Silent SNP C T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr19:1108809C>T uc002lrk.3 - 31 3823 c.3585G>A c.(3583-3585)CGG>CGA p.R1195R SBNO2_uc002lri.3_5'UTR|SBNO2_uc002lrj.3_Silent_p.R1138R|SBNO2_uc010dse.2_Silent_p.R1178R|SBNO2_uc010xgj.1_Intron NM_014963 NP_055778 Q9Y2G9 SBNO2_HUMAN strawberry notch homolog 2 isoform 1 1195 macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGGTCTTCAGCCGCACGATCT 0.716 9 12 --- --- --- --- PASS KANK3 256949 broad.mit.edu 37 19 8389685 8389685 + Silent SNP G A A TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr19:8389685G>A uc010dwa.2 - 9 2178 c.2112C>T c.(2110-2112)ATC>ATT p.I704I NM_198471 NP_940873 Q6NY19 KANK3_HUMAN ankyrin repeat domain 47 704 ANK 3. 0 GGCCATGGCTGATGGCCAGCA 0.637 23 63 --- --- --- --- PASS ACTL9 284382 broad.mit.edu 37 19 8808794 8808794 + Silent SNP G T T rs141160056 by1000genomes TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr19:8808794G>T uc002mkl.2 - 1 379 c.258C>A c.(256-258)CCC>CCA p.P86P NM_178525 NP_848620 Q8TC94 ACTL9_HUMAN actin-like 9 86 cytoplasm|cytoskeleton large_intestine(2)|pancreas(1) 3 CCGAGGTGGCGGGTTTCTTGG 0.662 3 41 --- --- --- --- PASS ZNF561 93134 broad.mit.edu 37 19 9727722 9727722 + Silent SNP C T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr19:9727722C>T uc002mlu.2 - 4 445 c.240G>A c.(238-240)GTG>GTA p.V80V ZNF561_uc010dwu.2_Silent_p.V11V|ZNF561_uc010xkr.1_5'UTR NM_152289 NP_689502 Q8N587 ZN561_HUMAN zinc finger protein 561 80 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TACTCTTACCCACAGAGGCCA 0.299 17 63 --- --- --- --- PASS HOOK2 29911 broad.mit.edu 37 19 12878912 12878912 + Missense_Mutation SNP T A A TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr19:12878912T>A uc002muy.2 - 12 1301 c.1130A>T c.(1129-1131)CAG>CTG p.Q377L HOOK2_uc010xmq.1_5'Flank|HOOK2_uc002muz.2_Missense_Mutation_p.Q377L NM_013312 NP_037444 Q96ED9 HOOK2_HUMAN hook homolog 2 isoform 1 377 Sufficient for interaction with microtubules.|Potential. early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport centrosome|FHF complex|microtubule identical protein binding|microtubule binding ovary(1)|breast(1)|skin(1) 3 GGCCTCCTCCTGCCGCTGGCC 0.542 153 54 --- --- --- --- PASS CASP14 23581 broad.mit.edu 37 19 15164318 15164318 + Missense_Mutation SNP G C C TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr19:15164318G>C uc010dzv.1 + 3 361 c.53G>C c.(52-54)CGC>CCC p.R18P CASP14_uc002naf.2_Missense_Mutation_p.R18P NM_012114 NP_036246 P31944 CASPE_HUMAN caspase 14 precursor 18 apoptosis|cell differentiation|epidermis development|proteolysis cytoplasm|nucleus cysteine-type endopeptidase activity skin(2)|ovary(1)|lung(1) 4 TCAGGTGCCCGCCTGGCCCTA 0.433 45 248 --- --- --- --- PASS CYP4F12 66002 broad.mit.edu 37 19 15791259 15791259 + Missense_Mutation SNP C T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr19:15791259C>T uc002nbl.2 + 5 516 c.455C>T c.(454-456)ACG>ATG p.T152M CYP4F12_uc010xoo.1_Missense_Mutation_p.T152M|CYP4F12_uc010xop.1_3'UTR NM_023944 NP_076433 cytochrome P450, family 4, subfamily F, skin(3)|ovary(2)|central_nervous_system(2) 7 Acute lymphoblastic leukemia(2;0.0367) CGGATGCTGACGCCCGCCTTC 0.542 18 57 --- --- --- --- PASS MYO9B 4650 broad.mit.edu 37 19 17265133 17265133 + Missense_Mutation SNP G C C TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr19:17265133G>C uc010eak.2 + 6 1259 c.1107G>C c.(1105-1107)TTG>TTC p.L369F MYO9B_uc002nfi.2_Missense_Mutation_p.L369F|MYO9B_uc002nfj.1_Missense_Mutation_p.L369F NM_004145 NP_004136 Q13459 MYO9B_HUMAN myosin IXB isoform 1 369 Myosin head-like. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(1) 1 AGCATAACTTGAAGATTGAAG 0.567 26 138 --- --- --- --- PASS ANO8 57719 broad.mit.edu 37 19 17442022 17442022 + Missense_Mutation SNP C G G TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr19:17442022C>G uc002ngf.2 - 7 865 c.706G>C c.(706-708)GAC>CAC p.D236H ANO8_uc010eap.2_RNA NM_020959 NP_066010 Q9HCE9 ANO8_HUMAN anoctamin 8 236 Extracellular (Potential). chloride channel complex chloride channel activity ovary(3) 3 TCACAGATGTCATCTGCCAGG 0.572 60 65 --- --- --- --- PASS TM6SF2 53345 broad.mit.edu 37 19 19381156 19381156 + Missense_Mutation SNP C T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr19:19381156C>T uc002nmd.1 - 3 345 c.295G>A c.(295-297)GAG>AAG p.E99K HAPLN4_uc002nmc.2_5'UTR NM_001001524 NP_001001524 Q9BZW4 TM6S2_HUMAN transmembrane 6 superfamily member 2 99 integral to membrane 0 Epithelial(12;0.0151) CCAAGTACCTCCTTGGTGTAG 0.607 70 31 --- --- --- --- PASS CBLC 23624 broad.mit.edu 37 19 45284515 45284515 + Silent SNP T C C TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr19:45284515T>C uc002ozs.2 + 3 615 c.552T>C c.(550-552)CCT>CCC p.P184P CBLC_uc010ejt.2_Silent_p.P184P NM_012116 NP_036248 Q9ULV8 CBLC_HUMAN Cas-Br-M (murine) ecotropic retroviral 184 EF-hand-like.|Cbl-PTB. cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(1)|skin(1) 6 Lung NSC(12;0.00136)|all_lung(12;0.00371) Ovarian(192;0.231) CCTGCCACCCTGTGGAACCAG 0.652 M AML 4 113 --- --- --- --- PASS NKPD1 284353 broad.mit.edu 37 19 45656363 45656363 + Silent SNP C T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr19:45656363C>T uc010xxi.1 - 4 1332 c.1332G>A c.(1330-1332)CTG>CTA p.L444L NM_198478 NP_940880 NTPase, KAP family P-loop domain containing 1 0 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231) GGTAGATCTCCAGGAAGCACA 0.637 3 13 --- --- --- --- PASS PRKCG 5582 broad.mit.edu 37 19 54395051 54395051 + Missense_Mutation SNP C G G TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr19:54395051C>G uc002qcq.1 + 6 935 c.653C>G c.(652-654)ACG>AGG p.T218R PRKCG_uc010eqz.1_Missense_Mutation_p.T218R|PRKCG_uc010yef.1_Missense_Mutation_p.T218R|PRKCG_uc010yeg.1_Missense_Mutation_p.T218R|PRKCG_uc010yeh.1_Missense_Mutation_p.T105R NM_002739 NP_002730 P05129 KPCG_HUMAN protein kinase C, gamma 218 C2. activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding lung(4)|ovary(2)|pancreas(2)|large_intestine(1) 9 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) GTGAAAGCCACGCTAAACCCT 0.537 35 93 --- --- --- --- PASS ZIM3 114026 broad.mit.edu 37 19 57647047 57647047 + Missense_Mutation SNP C G G TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr19:57647047C>G uc002qnz.1 - 5 1044 c.658G>C c.(658-660)GAA>CAA p.E220Q NM_052882 NP_443114 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 220 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1)|skin(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TAGGGCCTTTCCTCTGCGTGA 0.428 48 156 --- --- --- --- PASS CST8 10047 broad.mit.edu 37 20 23472426 23472426 + Missense_Mutation SNP C T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr20:23472426C>T uc002wth.1 + 2 479 c.122C>T c.(121-123)TCA>TTA p.S41L NM_005492 NP_005483 O60676 CST8_HUMAN cystatin 8 precursor 41 extracellular region cysteine-type endopeptidase inhibitor activity 0 Colorectal(13;0.0431)|Lung NSC(19;0.235) GTCAATGCCTCAAATGCCAAC 0.507 59 116 --- --- --- --- PASS TTPAL 79183 broad.mit.edu 37 20 43108970 43108970 + Missense_Mutation SNP G A A TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr20:43108970G>A uc002xmc.1 + 3 455 c.331G>A c.(331-333)GAA>AAA p.E111K TTPAL_uc002xmd.1_Missense_Mutation_p.E111K|TTPAL_uc010ggr.1_5'UTR NM_024331 NP_077307 Q9BTX7 TTPAL_HUMAN tocopherol (alpha) transfer protein-like 111 intracellular transporter activity breast(1) 1 AAGCTGGCCCGAAGTCTTCAA 0.577 14 85 --- --- --- --- PASS UBE2C 11065 broad.mit.edu 37 20 44444263 44444263 + Silent SNP G A A TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr20:44444263G>A uc002xpm.2 + 4 380 c.300G>A c.(298-300)ACG>ACA p.T100T UBE2C_uc002xpl.2_Intron|UBE2C_uc002xpn.2_Silent_p.T61T|UBE2C_uc002xpo.2_Silent_p.T71T|UBE2C_uc002xpp.2_Intron|UBE2C_uc002xpq.2_Silent_p.T61T NM_007019 NP_008950 O00762 UBE2C_HUMAN ubiquitin-conjugating enzyme E2C isoform 1 100 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|exit from mitosis|free ubiquitin chain polymerization|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|positive regulation of exit from mitosis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|protein K48-linked ubiquitination|spindle organization anaphase-promoting complex|cytosol|nucleoplasm ATP binding|protein binding|ubiquitin-protein ligase activity 0 Myeloproliferative disorder(115;0.0122) AGTTCCTCACGCCCTGCTATC 0.517 20 124 --- --- --- --- PASS PHACTR3 116154 broad.mit.edu 37 20 58416495 58416495 + Silent SNP C T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr20:58416495C>T uc002yau.2 + 11 1959 c.1492C>T c.(1492-1494)CTG>TTG p.L498L PHACTR3_uc002yat.2_Silent_p.L495L|PHACTR3_uc010zzw.1_Silent_p.L457L|PHACTR3_uc002yav.2_Silent_p.L457L|PHACTR3_uc002yaw.2_Silent_p.L457L|PHACTR3_uc002yax.2_Silent_p.L387L|PHACTR3_uc002yay.2_Silent_p.L67L NM_080672 NP_542403 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 isoform 1 498 Required for PP1CA binding and inhibition of PP1 activity.|RPEL 4. nuclear matrix actin binding|protein phosphatase inhibitor activity ovary(2)|pancreas(1) 3 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) CAGAAAAATTCTGATACGATT 0.403 8 66 --- --- --- --- PASS LAMA5 3911 broad.mit.edu 37 20 60893681 60893681 + Silent SNP C G G TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr20:60893681C>G uc002ycq.2 - 53 7135 c.7068G>C c.(7066-7068)CTG>CTC p.L2356L NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor 2356 Domain II and I.|Potential. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding ovary(1)|pancreas(1)|skin(1) 3 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGAGGCTGCTCAGCTGCTCCT 0.667 23 29 --- --- --- --- PASS LAMA5 3911 broad.mit.edu 37 20 60893954 60893954 + Silent SNP C T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr20:60893954C>T uc002ycq.2 - 52 7054 c.6987G>A c.(6985-6987)CGG>CGA p.R2329R NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor 2329 Domain II and I. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding ovary(1)|pancreas(1)|skin(1) 3 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCCCCAGGTCCCGGGCCCGCA 0.701 8 9 --- --- --- --- PASS NTSR1 4923 broad.mit.edu 37 20 61341012 61341012 + Nonsense_Mutation SNP C A A TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr20:61341012C>A uc002ydf.2 + 1 824 c.453C>A c.(451-453)TGC>TGA p.C151* NM_002531 NP_002522 P30989 NTR1_HUMAN neurotensin receptor 1 151 Helical; Name=3; (Potential). endoplasmic reticulum|Golgi apparatus|integral to plasma membrane neurotensin receptor activity, G-protein coupled skin(2)|lung(1)|central_nervous_system(1) 4 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;3.63e-06) GCGACGCCTGCACCTACGCCA 0.667 19 41 --- --- --- --- PASS RGS19 10287 broad.mit.edu 37 20 62705589 62705589 + Missense_Mutation SNP C T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr20:62705589C>T uc002yhy.2 - 5 637 c.370G>A c.(370-372)GAG>AAG p.E124K RGS19_uc002yhz.2_Missense_Mutation_p.E102K|RGS19_uc002yia.2_Missense_Mutation_p.E124K|RGS19_uc002yib.2_Missense_Mutation_p.E124K NM_005873 NP_005864 P49795 RGS19_HUMAN G protein signalling regulator 19 124 RGS. autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction Golgi apparatus|membrane fraction|plasma membrane GTPase activator activity|protein binding|signal transducer activity skin(1) 1 all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09) TTCAGCTCCTCGCAGGCCAAC 0.602 23 49 --- --- --- --- PASS DSCAM 1826 broad.mit.edu 37 21 41719705 41719705 + Missense_Mutation SNP C G G TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr21:41719705C>G uc002yyq.1 - 6 1554 c.1102G>C c.(1102-1104)GAA>CAA p.E368Q DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 368 Extracellular (Potential).|Ig-like C2-type 4. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) ATAAGGTTTTCGTGGTTGATC 0.512 107 181 --- --- --- --- PASS CCT8L2 150160 broad.mit.edu 37 22 17071946 17071946 + Missense_Mutation SNP C T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr22:17071946C>T uc002zlp.1 - 1 1755 c.1495G>A c.(1495-1497)GTC>ATC p.V499I NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN T-complex protein 1 499 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity ovary(1) 1 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) TGGGCTTTGACTATTAGGGTG 0.507 58 110 --- --- --- --- PASS APOL2 23780 broad.mit.edu 37 22 36624152 36624152 + Missense_Mutation SNP C A A TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr22:36624152C>A uc003aoz.2 - 5 648 c.312G>T c.(310-312)GAG>GAT p.E104D APOL2_uc011amm.1_Missense_Mutation_p.E216D|APOL2_uc003apa.2_Missense_Mutation_p.E104D NM_030882 NP_112092 Q9BQE5 APOL2_HUMAN apolipoprotein L2 104 acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development endoplasmic reticulum membrane|extracellular region high-density lipoprotein particle binding|lipid binding|receptor binding 0 GCTCAACCTCCTCTGCAAGGG 0.547 4 89 --- --- --- --- PASS CRELD2 79174 broad.mit.edu 37 22 50316902 50316902 + Missense_Mutation SNP G A A rs143760812 byFrequency TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chr22:50316902G>A uc003bja.2 + 7 844 c.709G>A c.(709-711)GAG>AAG p.E237K CRELD2_uc003biz.3_Missense_Mutation_p.E237K|CRELD2_uc010haj.2_Missense_Mutation_p.E237K|CRELD2_uc010hal.2_Missense_Mutation_p.E286K|CRELD2_uc010hak.2_Intron|CRELD2_uc010ham.2_Missense_Mutation_p.E237K NM_024324 NP_077300 Q6UXH1 CREL2_HUMAN cysteine-rich with EGF-like domains 2 isoform b 237 FU 1. endoplasmic reticulum|extracellular region calcium ion binding 0 all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247) GTGTGCGGCCGAGCCGCCTCC 0.692 23 19 --- --- --- --- PASS MXRA5 25878 broad.mit.edu 37 X 3248135 3248135 + Missense_Mutation SNP A T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chrX:3248135A>T uc004crg.3 - 4 790 c.633T>A c.(631-633)AAT>AAA p.N211K NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 211 extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) GCAAGTAAAGATTCTCCAGAA 0.468 8 28 --- --- --- --- PASS ACE2 59272 broad.mit.edu 37 X 15609979 15609979 + Missense_Mutation SNP C A A TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chrX:15609979C>A uc004cxa.1 - 4 608 c.440G>T c.(439-441)GGT>GTT p.G147V ACE2_uc004cxb.2_Missense_Mutation_p.G147V NM_021804 NP_068576 Q9BYF1 ACE2_HUMAN angiotensin I converting enzyme 2 precursor 147 Extracellular (Potential). angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding ovary(3) 3 Hepatocellular(33;0.183) Moexipril(DB00691) TTCATTCAAACCTGTTATCCC 0.378 102 191 --- --- --- --- PASS SSX7 280658 broad.mit.edu 37 X 52681966 52681966 + Missense_Mutation SNP G C C TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chrX:52681966G>C uc004dqx.1 - 3 297 c.138C>G c.(136-138)ATC>ATG p.I46M NM_173358 NP_775494 Q7RTT5 SSX7_HUMAN synovial sarcoma, X breakpoint 7 46 KRAB-related. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding skin(1) 1 Ovarian(276;0.236) ACACATAGCTGATTTTCTCCA 0.373 46 101 --- --- --- --- PASS WNK3 65267 broad.mit.edu 37 X 54359719 54359719 + Missense_Mutation SNP C T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chrX:54359719C>T uc004dtd.1 - 2 827 c.388G>A c.(388-390)GAA>AAA p.E130K WNK3_uc004dtc.1_Missense_Mutation_p.E130K NM_001002838 NP_001002838 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 isoform 2 130 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity lung(4)|ovary(3)|kidney(2)|central_nervous_system(2) 11 GCTTCTTCTTCCATTTCCTTT 0.358 21 73 --- --- --- --- PASS DGAT2L6 347516 broad.mit.edu 37 X 69420307 69420307 + Missense_Mutation SNP T C C TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chrX:69420307T>C uc004dxx.1 + 4 567 c.470T>C c.(469-471)ATG>ACG p.M157T NM_198512 NP_940914 Q6ZPD8 DG2L6_HUMAN diacylglycerol O-acyltransferase 2-like 6 157 lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity ovary(1) 1 GTGATGTCAATGGGTGAGTAT 0.398 12 50 --- --- --- --- PASS KIF4A 24137 broad.mit.edu 37 X 69615553 69615553 + Silent SNP C T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chrX:69615553C>T uc004dyg.2 + 21 2392 c.2265C>T c.(2263-2265)GTC>GTT p.V755V KIF4A_uc010nkw.2_Silent_p.V755V NM_012310 NP_036442 O95239 KIF4A_HUMAN kinesin family member 4 755 Potential.|Interaction with PRC1. anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization chromosome|cytosol|midbody|nuclear matrix|spindle microtubule ATP binding|DNA binding|microtubule motor activity|protein binding ovary(4) 4 AGGTTATGGTCAGTACTGAGG 0.443 11 64 --- --- --- --- PASS ZMYM3 9203 broad.mit.edu 37 X 70466282 70466282 + Missense_Mutation SNP C G G TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chrX:70466282C>G uc004dzh.1 - 15 2580 c.2493G>C c.(2491-2493)AAG>AAC p.K831N BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Missense_Mutation_p.K831N|ZMYM3_uc004dzj.1_Missense_Mutation_p.K819N NM_201599 NP_963893 Q14202 ZMYM3_HUMAN zinc finger protein 261 831 multicellular organismal development nucleus DNA binding|zinc ion binding ovary(1) 1 Renal(35;0.156) ACATGGCAGCCTTGTTTTTGC 0.572 9 45 --- --- --- --- PASS RPA4 29935 broad.mit.edu 37 X 96139743 96139743 + Missense_Mutation SNP T C C TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chrX:96139743T>C uc004efv.3 + 1 732 c.434T>C c.(433-435)ATT>ACT p.I145T DIAPH2_uc004eft.3_Intron|DIAPH2_uc004efu.3_Intron|DIAPH2_uc004efs.2_Intron NM_013347 NP_037479 Q13156 RFA4_HUMAN replication protein A4, 34kDa 145 DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair DNA replication factor A complex|nucleoplasm single-stranded DNA binding 0 GTATTGAAAATTCATGTCCTA 0.448 Other_identified_genes_with_known_or_suspected_DNA_repair_function 20 88 --- --- --- --- PASS TRPC5 7224 broad.mit.edu 37 X 111195573 111195573 + Missense_Mutation SNP C T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chrX:111195573C>T uc004epl.1 - 2 995 c.76G>A c.(76-78)GAG>AAG p.E26K TRPC5_uc004epm.1_Missense_Mutation_p.E26K NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, 26 Cytoplasmic (Potential). axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity urinary_tract(1) 1 AGCTCTGTCTCAGCCCTCACA 0.517 23 103 --- --- --- --- PASS ZCCHC16 340595 broad.mit.edu 37 X 111698850 111698850 + Silent SNP T G G TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chrX:111698850T>G uc004epo.1 + 3 1335 c.894T>G c.(892-894)TCT>TCG p.S298S NM_001004308 NP_001004308 Q6ZR62 ZCH16_HUMAN zinc finger, CCHC domain containing 16 298 nucleic acid binding|zinc ion binding ovary(1) 1 CCAAACGTTCTCGAGCTCCGG 0.493 5 55 --- --- --- --- PASS DOCK11 139818 broad.mit.edu 37 X 117764395 117764395 + Missense_Mutation SNP G C C TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chrX:117764395G>C uc004eqp.2 + 35 3891 c.3828G>C c.(3826-3828)CAG>CAC p.Q1276H DOCK11_uc004eqq.2_Missense_Mutation_p.Q1055H NM_144658 NP_653259 Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 1276 blood coagulation cytosol GTP binding ovary(3) 3 GCCTGGATCAGTATGAAATCA 0.403 30 256 --- --- --- --- PASS GLUD2 2747 broad.mit.edu 37 X 120182719 120182719 + Missense_Mutation SNP C A A TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chrX:120182719C>A uc004eto.2 + 1 1258 c.1181C>A c.(1180-1182)CCC>CAC p.P394H NM_012084 NP_036216 P49448 DHE4_HUMAN glutamate dehydrogenase 2 precursor 394 glutamate biosynthetic process|glutamate catabolic process mitochondrial matrix ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding pancreas(1) 1 L-Glutamic Acid(DB00142)|NADH(DB00157) TCCAACGCACCCAGAGTCAAA 0.483 57 234 --- --- --- --- PASS ODZ1 10178 broad.mit.edu 37 X 123515073 123515073 + Missense_Mutation SNP C T T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chrX:123515073C>T uc004euj.2 - 31 7555 c.7491G>A c.(7489-7491)ATG>ATA p.M2497I ODZ1_uc011muj.1_Missense_Mutation_p.M2503I|ODZ1_uc010nqy.2_Missense_Mutation_p.M2504I NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 2497 Extracellular (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 ATCGGGGAGTCATAGGTAGTT 0.468 43 225 --- --- --- --- PASS F9 2158 broad.mit.edu 37 X 138643729 138643729 + Missense_Mutation SNP T G G TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 035fe73e-56b4-4afe-b70e-dd3c34027f2d 8b2bd323-6573-4816-8f89-dde6eb48738d g.chrX:138643729T>G uc004fas.1 + 8 914 c.885T>G c.(883-885)AAT>AAG p.N295K F9_uc004fat.1_Missense_Mutation_p.N257K NM_000133 NP_000124 P00740 FA9_HUMAN coagulation factor IX preproprotein 295 Peptidase S1. blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity lung(2)|ovary(1) 3 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) AAAAGCGAAATGTGATTCGAA 0.348 34 108 --- --- --- --- PASS