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 TAS1R3 83756 broad.mit.edu 37 1 1267838 1267838 + Silent SNP C C T TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr1:1267838C>T uc010nyk.1 + 3 927 c.927C>T c.(925-927)GTC>GTT p.V309V NM_152228 NP_689414 Q7RTX0 TS1R3_HUMAN taste receptor, type 1, member 3 precursor 309 Extracellular (Potential). detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146) Aspartame(DB00168) CTGACCTGGTCATGGGGCTGC 0.672000 C1orf174 339448 broad.mit.edu 37 1 3807161 3807161 + Missense_Mutation SNP C C T TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr1:3807161C>T uc001alf.2 - 3 697 c.590G>A c.(589-591)CGG>CAG p.R197Q C1orf174_uc009vls.2_RNA NM_207356 NP_997239 Q8IYL3 CA174_HUMAN hypothetical protein LOC339448 197 0 all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227) all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127) Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19) TCCAAAGAACCGGCTCACGGG 0.567000 CASP9 842 broad.mit.edu 37 1 15831220 15831220 + Missense_Mutation SNP C C T TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr1:15831220C>T uc001awn.2 - 6 849 c.754G>A c.(754-756)GGC>AGC p.G252S CASP9_uc001awm.1_Missense_Mutation_p.G252S|CASP9_uc001awo.2_Intron|CASP9_uc001awp.2_Missense_Mutation_p.G96S|CASP9_uc009voi.2_Missense_Mutation_p.G96S|CASP9_uc010obm.1_Missense_Mutation_p.G169S|CASP9_uc001awq.2_Missense_Mutation_p.G169S NM_001229 NP_001220 P55211 CASP9_HUMAN caspase 9 isoform alpha preproprotein 252 activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol cysteine-type endopeptidase activity|enzyme activator activity|protein binding central_nervous_system(1)|kidney(1) 2 Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655) CCATCTGTGCCGTAGACAGCC 0.537000 SPEN 23013 broad.mit.edu 37 1 16262482 16262482 + Silent SNP C C T TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr1:16262482C>T uc001axk.1 + 11 9951 c.9747C>T c.(9745-9747)CCC>CCT p.P3249P SPEN_uc010obp.1_Silent_p.P3208P NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 3249 Pro-rich. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) cccctgcccccgtccctgtcc 0.408000 ERI3 79033 broad.mit.edu 37 1 44687311 44687311 + Silent SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr1:44687311G>A uc001clt.2 - 9 1174 c.933C>T c.(931-933)GAC>GAT p.D311D ERI3_uc010okv.1_Silent_p.D134D|ERI3_uc009vxg.2_Silent_p.D339D|ERI3_uc010okw.1_Silent_p.D233D|ERI3_uc001clu.2_Missense_Mutation_p.T200M NM_024066 NP_076971 O43414 ERI3_HUMAN prion protein interacting protein 311 Exonuclease. intracellular exonuclease activity|metal ion binding|nucleic acid binding ovary(2)|large_intestine(1) 3 TCTTGCAGTCGTCTAAAAAGG 0.522000 ELAVL4 1996 broad.mit.edu 37 1 50659546 50659546 + Missense_Mutation SNP A A G TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr1:50659546A>G uc001csb.2 + 4 732 c.464A>G c.(463-465)TAC>TGC p.Y155C ELAVL4_uc001cry.3_Missense_Mutation_p.Y158C|ELAVL4_uc001crz.3_Missense_Mutation_p.Y155C|ELAVL4_uc001csa.3_Missense_Mutation_p.Y172C|ELAVL4_uc001csc.3_Missense_Mutation_p.Y155C|ELAVL4_uc009vyu.2_Missense_Mutation_p.Y160C|ELAVL4_uc010omz.1_Missense_Mutation_p.Y160C NM_021952 NP_068771 P26378 ELAV4_HUMAN ELAV-like 4 isoform 1 155 RRM 2. mRNA processing AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding ovary(1)|pancreas(1) 2 TTCTCGCAATACGGCCGTATC 0.468000 LPHN2 23266 broad.mit.edu 37 1 82456476 82456476 + Missense_Mutation SNP G G C TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr1:82456476G>C uc001dit.3 + 21 4040 c.3859G>C c.(3859-3861)GTG>CTG p.V1287L LPHN2_uc001dis.2_Missense_Mutation_p.V267L|LPHN2_uc001diu.2_Missense_Mutation_p.V1287L|LPHN2_uc001div.2_3'UTR|LPHN2_uc009wcd.2_3'UTR|LPHN2_uc001diw.2_Missense_Mutation_p.V914L NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor 1343 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding ovary(3)|lung(3)|breast(2)|central_nervous_system(1) 9 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) CCAGAAGAAAGTGAAGTCCGA 0.532000 LCE2A 353139 broad.mit.edu 37 1 152671675 152671675 + Missense_Mutation SNP C C T TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr1:152671675C>T uc001faj.2 + 2 349 c.298C>T c.(298-300)CAC>TAC p.H100Y NM_178428 NP_848515 Q5TA79 LCE2A_HUMAN late cornified envelope 2A 100 Cys-rich. keratinization 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TGGCTGCTGCCACAGCTCTGG 0.602000 FCRL3 115352 broad.mit.edu 37 1 157668421 157668421 + Splice_Site SNP T T G TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr1:157668421T>G uc001frb.2 - 4 345 c.53_splice c.e4-1 p.G18_splice FCRL3_uc001fqx.3_Splice_Site|FCRL3_uc001fqy.3_Splice_Site|FCRL3_uc001fqz.3_Splice_Site_p.G18_splice|FCRL3_uc009wsn.2_Splice_Site|FCRL3_uc009wso.2_Splice_Site|FCRL3_uc001fra.2_5'Flank|FCRL3_uc001frc.1_Splice_Site_p.G18_splice NM_052939 NP_443171 Q96P31 FCRL3_HUMAN Fc receptor-like 3 precursor integral to membrane|plasma membrane receptor activity ovary(3)|breast(1) 4 all_hematologic(112;0.0378) GGGCCACCCCTAAACAGGAAA 0.502000 OR10X1 128367 broad.mit.edu 37 1 158549445 158549445 + Missense_Mutation SNP A A G TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr1:158549445A>G uc010pin.1 - 1 245 c.245T>C c.(244-246)CTC>CCC p.L82P NM_001004477 NP_001004477 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, 82 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) AGAGAAGGAGAGTGCACTAAG 0.498000 OR6N2 81442 broad.mit.edu 37 1 158746982 158746982 + Nonsense_Mutation SNP A A T TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr1:158746982A>T uc010pir.1 - 1 444 c.444T>A c.(442-444)TGT>TGA p.C148* NM_001005278 NP_001005278 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, 148 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_hematologic(112;0.0378) CACAAGTCCAACAAGCAGCAG 0.483000 ATP1A4 480 broad.mit.edu 37 1 160136459 160136459 + Missense_Mutation SNP G G A rs147875149 byFrequency TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr1:160136459G>A uc001fve.3 + 8 1668 c.1189G>A c.(1189-1191)GCC>ACC p.A397T ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_5'UTR NM_144699 NP_653300 Q13733 AT1A4_HUMAN Na+/K+ -ATPase alpha 4 subunit isoform 1 397 Cytoplasmic (Potential). ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(2)|skin(2) 4 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CATGACCGTCGCCCACATGTG 0.577000 TNR 7143 broad.mit.edu 37 1 175334354 175334354 + Silent SNP A A G TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr1:175334354A>G uc001gkp.1 - 10 2460 c.2379T>C c.(2377-2379)ACT>ACC p.T793T TNR_uc009wwu.1_Silent_p.T793T NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 793 Fibronectin type-III 6. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) GATCACTCCAAGTGATGTTCA 0.517000 LAMC1 3915 broad.mit.edu 37 1 183099510 183099510 + Silent SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr1:183099510G>A uc001gpy.3 + 19 3569 c.3312G>A c.(3310-3312)CAG>CAA p.Q1104Q NM_002293 NP_002284 P11047 LAMC1_HUMAN laminin, gamma 1 precursor 1104 Potential.|Domain II and I. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent ovary(3)|large_intestine(1)|kidney(1) 5 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ATCGCCTACAGAGAGTGAATA 0.413000 FAM5C 339479 broad.mit.edu 37 1 190067640 190067640 + Silent SNP T T C TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr1:190067640T>C uc001gse.1 - 8 2041 c.1809A>G c.(1807-1809)CTA>CTG p.L603L FAM5C_uc010pot.1_Silent_p.L501L NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 603 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) ACTGCAGGGGTAGGTCCAACT 0.463000 ZP4 57829 broad.mit.edu 37 1 238053765 238053765 + Silent SNP A A T TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr1:238053765A>T uc001hym.2 - 1 171 c.171T>A c.(169-171)GCT>GCA p.A57A LOC100130331_uc010pyc.1_Intron NM_021186 NP_067009 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 preproprotein 57 Extracellular (Potential). acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity ovary(2)|skin(1) 3 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) ACTTACCCCAAGCTATTAGTA 0.478000 C10orf140 387640 broad.mit.edu 37 10 21804403 21804403 + Silent SNP T T C TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr10:21804403T>C uc009xkd.2 - 4 4602 c.2349A>G c.(2347-2349)ACA>ACG p.T783T uc001iqp.1_Intron NM_207371 NP_997254 Q1XH10 DLN1_HUMAN hypothetical protein LOC387640 702 nucleus nucleotide binding ovary(1) 1 CCAGTACTAGTGTCCGGTAAT 0.458000 PCDH15 65217 broad.mit.edu 37 10 55721560 55721560 + Missense_Mutation SNP T T A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr10:55721560T>A uc001jju.1 - 22 3356 c.2961A>T c.(2959-2961)AGA>AGT p.R987S PCDH15_uc010qhq.1_Missense_Mutation_p.R992S|PCDH15_uc010qhr.1_Missense_Mutation_p.R987S|PCDH15_uc010qhs.1_Missense_Mutation_p.R999S|PCDH15_uc010qht.1_Missense_Mutation_p.R994S|PCDH15_uc010qhu.1_Missense_Mutation_p.R987S|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.R987S|PCDH15_uc010qhw.1_Missense_Mutation_p.R950S|PCDH15_uc010qhx.1_Missense_Mutation_p.R916S|PCDH15_uc010qhy.1_Missense_Mutation_p.R992S|PCDH15_uc010qhz.1_Missense_Mutation_p.R987S|PCDH15_uc010qia.1_Missense_Mutation_p.R965S|PCDH15_uc010qib.1_Missense_Mutation_p.R965S NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 987 Extracellular (Potential).|Cadherin 9. 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) GTGTTATTACTCTTCCAGAAT 0.343000 HNSCC(58;0.16) ZNF365 22891 broad.mit.edu 37 10 64415333 64415333 + Silent SNP G G A rs141141483 TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr10:64415333G>A uc001jmd.1 + 4 667 c.333G>A c.(331-333)TCG>TCA p.S111S ZNF365_uc001jmc.2_Intron|ZNF365_uc001jme.1_Intron|ZNF365_uc001jmf.1_Intron|ZNF365_uc009xpg.1_Intron NM_199452 NP_955524 Q70YC4 TALAN_HUMAN zinc finger protein 365 isoform D 111 ovary(1)|skin(1) 2 Prostate(12;0.0297)|all_hematologic(501;0.228) TTGCAGAGTCGTGCTGTGGTC 0.512000 STOX1 219736 broad.mit.edu 37 10 70645465 70645465 + Missense_Mutation SNP C C T TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr10:70645465C>T uc001jos.2 + 3 2000 c.1913C>T c.(1912-1914)CCG>CTG p.P638L STOX1_uc001jor.2_Intron|STOX1_uc009xpy.2_Intron|STOX1_uc001joq.2_Missense_Mutation_p.P528L NM_001130161 NP_001123633 Q6ZVD7 STOX1_HUMAN storkhead box 1 isoform a 638 cytoplasm|nucleolus DNA binding kidney(1)|skin(1) 2 AAACAGACTCCGCATAGTCTG 0.433000 LRIT1 26103 broad.mit.edu 37 10 85991896 85991896 + Missense_Mutation SNP C C G TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr10:85991896C>G uc001kcz.1 - 4 1681 c.1659G>C c.(1657-1659)CAG>CAC p.Q553H NM_015613 NP_056428 Q9P2V4 LRIT1_HUMAN retina specific protein PAL 553 Cytoplasmic (Potential). integral to endoplasmic reticulum membrane 0 GGCAGCGCTTCTGAAGAGCAC 0.552000 GRID1 2894 broad.mit.edu 37 10 87966203 87966203 + Silent SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr10:87966203G>A uc001kdl.1 - 3 539 c.438C>T c.(436-438)CCC>CCT p.P146P GRID1_uc009xsu.1_RNA NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 146 Extracellular (Potential). cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1) 10 L-Glutamic Acid(DB00142) TGAGGCGGACGGGTGGTCTCG 0.622000 Multiple Myeloma(13;0.14) MYOF 26509 broad.mit.edu 37 10 95119649 95119649 + Nonsense_Mutation SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr10:95119649G>A uc001kin.2 - 29 3184 c.3061C>T c.(3061-3063)CGA>TGA p.R1021* MYOF_uc001kio.2_Nonsense_Mutation_p.R1008*|MYOF_uc009xue.2_RNA NM_013451 NP_038479 Q9NZM1 MYOF_HUMAN myoferlin isoform a 1021 Cytoplasmic (Potential). blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding ovary(3)|breast(1) 4 ACCAGCCTTCGCCGTCTATGA 0.502000 PNLIPRP2 5408 broad.mit.edu 37 10 118385511 118385511 + Missense_Mutation SNP C C T TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr10:118385511C>T uc001lcq.2 + 6 285 c.262C>T c.(262-264)CGC>TGC p.R88C PNLIPRP2_uc009xyu.1_RNA|PNLIPRP2_uc009xyv.1_RNA NM_005396 NP_005387 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 87 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity large_intestine(1) 1 all cancers(201;0.015) CCAACTGGACCGCAAGACACG 0.498000 ODF3 113746 broad.mit.edu 37 11 197612 197612 + Missense_Mutation SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr11:197612G>A uc001lob.2 + 3 455 c.161G>A c.(160-162)CGT>CAT p.R54H ODF3_uc010qvk.1_Missense_Mutation_p.R54H|ODF3_uc001loc.2_Missense_Mutation_p.R54H NM_053280 NP_444510 Q96PU9 ODF3A_HUMAN outer dense fiber of sperm tails 3 54 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm ovary(1) 1 all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122) TACAGCTTCCGTGGGGCCCCC 0.632000 SLC17A6 57084 broad.mit.edu 37 11 22391671 22391671 + Missense_Mutation SNP T T G TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr11:22391671T>G uc001mqk.2 + 8 1391 c.978T>G c.(976-978)TTT>TTG p.F326L NM_020346 NP_065079 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (sodium-dependent 326 Helical; (Potential). sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3)|breast(1) 4 GCTGGACTTTTTATTTATTGC 0.323000 DLG2 1740 broad.mit.edu 37 11 83641522 83641522 + Missense_Mutation SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr11:83641522G>A uc001paj.2 - 10 1333 c.1030C>T c.(1030-1032)CCG>TCG p.P344S DLG2_uc001pai.2_Intron|DLG2_uc010rsy.1_Missense_Mutation_p.P311S|DLG2_uc010rsz.1_Missense_Mutation_p.P344S|DLG2_uc010rta.1_Missense_Mutation_p.P344S|DLG2_uc001pak.2_Missense_Mutation_p.P449S|DLG2_uc010rtb.1_Missense_Mutation_p.P311S|DLG2_uc001pal.1_Missense_Mutation_p.P344S|DLG2_uc001pam.1_Missense_Mutation_p.P383S NM_001364 NP_001355 Q15700 DLG2_HUMAN chapsyn-110 isoform 2 344 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding|protein binding ovary(3)|pancreas(2)|skin(1) 6 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) ACAGGTTCCGGAGGCCTGGTG 0.458000 IL18 3606 broad.mit.edu 37 11 112014479 112014479 + Missense_Mutation SNP C C T TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr11:112014479C>T uc001pnb.1 - 6 642 c.422G>A c.(421-423)AGT>AAT p.S141N IL18_uc001pna.1_Missense_Mutation_p.S115N|IL18_uc009yym.1_Missense_Mutation_p.S137N NM_001562 NP_001553 Q14116 IL18_HUMAN interleukin 18 proprotein 141 angiogenesis|cell-cell signaling|chemokine biosynthetic process|granulocyte macrophage colony-stimulating factor biosynthetic process|interferon-gamma biosynthetic process|interleukin-13 biosynthetic process|interleukin-2 biosynthetic process|positive regulation of activated T cell proliferation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-17 production|positive regulation of natural killer cell proliferation|positive regulation of NK T cell proliferation|regulation of cell adhesion|sleep|T-helper 1 type immune response|type 2 immune response cytosol|extracellular space cytokine activity|signal transducer activity 0 all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|Epithelial(105;8.15e-07)|all cancers(92;1.43e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.055) TCCTGGGACACTTCTCTGAAA 0.323000 OR8D2 283160 broad.mit.edu 37 11 124189480 124189480 + Missense_Mutation SNP A A C TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr11:124189480A>C uc010sah.1 - 1 614 c.614T>G c.(613-615)GTT>GGT p.V205G NM_001002918 NP_001002918 Q9GZM6 OR8D2_HUMAN olfactory receptor, family 8, subfamily D, 205 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|pancreas(1) 3 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) TAAGGTATTAACTCCTCCAAT 0.413000 CLECL1 160365 broad.mit.edu 37 12 9885618 9885618 + Silent SNP T T A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr12:9885618T>A uc001qwj.2 - 1 243 c.243A>T c.(241-243)GGA>GGT p.G81G NM_172004 NP_742001 Q8IZS7 CLCL1_HUMAN type II transmembrane protein DCAL1 81 Helical; Signal-anchor for type II membrane protein; (Potential). integral to membrane|plasma membrane sugar binding 0 AGACTACATCTCCAGCCATTG 0.433000 DNAH10 196385 broad.mit.edu 37 12 124359954 124359954 + Silent SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr12:124359954G>A uc001uft.3 + 46 7786 c.7761G>A c.(7759-7761)TCG>TCA p.S2587S NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2587 AAA 3 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GATTTATTTCGCTATTCAGTG 0.443000 PCDH17 27253 broad.mit.edu 37 13 58207332 58207332 + Missense_Mutation SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr13:58207332G>A uc001vhq.1 + 1 1544 c.652G>A c.(652-654)GGT>AGT p.G218S PCDH17_uc010aec.1_Missense_Mutation_p.G218S NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 218 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) TGCCCTGGACGGTGGCGAGCC 0.607000 PCDH20 64881 broad.mit.edu 37 13 61987973 61987973 + Missense_Mutation SNP C C T TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr13:61987973C>T uc001vid.3 - 2 623 c.259G>A c.(259-261)GAG>AAG p.E87K PCDH20_uc010thj.1_Missense_Mutation_p.E87K NM_022843 NP_073754 Q8N6Y1 PCD20_HUMAN protocadherin 20 60 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|breast(1)|central_nervous_system(1) 6 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) CGCAGGTCCTCGGCCAGGCTG 0.687000 COL4A1 1282 broad.mit.edu 37 13 110829307 110829307 + Missense_Mutation SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr13:110829307G>A uc001vqw.3 - 34 2916 c.2794C>T c.(2794-2796)CCT>TCT p.P932S COL4A1_uc010agl.2_Intron NM_001845 NP_001836 P02462 CO4A1_HUMAN alpha 1 type IV collagen preproprotein 932 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) GGCTTGCCAGGGAGACCGACA 0.587000 AKAP6 9472 broad.mit.edu 37 14 33046439 33046439 + Silent SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr14:33046439G>A uc001wrq.2 + 5 2630 c.2460G>A c.(2458-2460)GAG>GAA p.E820E AKAP6_uc010aml.2_Silent_p.E817E NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 820 Spectrin 1. protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) TGTATCTGGAGACACACTTGG 0.348000 SEMA6D 80031 broad.mit.edu 37 15 48055278 48055278 + Missense_Mutation SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr15:48055278G>A uc010bek.2 + 9 1084 c.724G>A c.(724-726)GTC>ATC p.V242I SEMA6D_uc001zvw.2_Missense_Mutation_p.V242I|SEMA6D_uc001zvx.1_Missense_Mutation_p.V242I|SEMA6D_uc001zvy.2_Missense_Mutation_p.V242I|SEMA6D_uc001zvz.2_Missense_Mutation_p.V242I|SEMA6D_uc001zwa.2_Missense_Mutation_p.V242I|SEMA6D_uc001zwb.2_Missense_Mutation_p.V242I|SEMA6D_uc001zwc.2_Missense_Mutation_p.V242I NM_153618 NP_705871 Q8NFY4 SEM6D_HUMAN semaphorin 6D isoform 4 precursor 242 Sema.|Extracellular (Potential). axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity p.V242V(1) skin(3)|breast(1) 4 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) AGAAATCGCTGTCGAACATAA 0.358000 FBN1 2200 broad.mit.edu 37 15 48782113 48782113 + Missense_Mutation SNP T T C TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr15:48782113T>C uc001zwx.1 - 25 3345 c.3017A>G c.(3016-3018)GAG>GGG p.E1006G NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 1006 TB 5. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) CGGACACAGCTCCTCGTACTC 0.542000 PHKG2 5261 broad.mit.edu 37 16 30768205 30768205 + Silent SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr16:30768205G>A uc002dzk.1 + 10 1101 c.1008G>A c.(1006-1008)CTG>CTA p.L336L PHKG2_uc002dzi.1_Silent_p.L340L|PHKG2_uc002dzj.1_Silent_p.L234L NM_000294 NP_000285 P15735 PHKG2_HUMAN phosphorylase kinase, gamma 2 (testis) 336 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol ATP binding|calmodulin binding|phosphorylase kinase activity ovary(1) 1 Colorectal(24;0.198) AGAATGCACTGTTGAGGGACC 0.617000 LPCAT2 54947 broad.mit.edu 37 16 55608610 55608610 + Missense_Mutation SNP A A T TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr16:55608610A>T uc002eie.3 + 12 1464 c.1283A>T c.(1282-1284)AAC>ATC p.N428I LPCAT2_uc002eic.2_Missense_Mutation_p.N158I NM_017839 NP_060309 Q7L5N7 PCAT2_HUMAN lysophosphatidylcholine acyltransferase 2 428 EF-hand 2.|Lumenal (Potential). cellular membrane organization|platelet activating factor biosynthetic process endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding 0 AACCCTTCCAACACAGAGGAG 0.453000 TP53 7157 broad.mit.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T rs28934578 TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr17:7578406C>T uc002gim.2 - 5 718 c.524G>A c.(523-525)CGC>CAC p.R175H TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.2_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.1_Missense_Mutation_p.R136H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 175 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R175H(729)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R43H(5)|p.R82H(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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) GTGGGGGCAGCGCCTCACAAC 0.652000 R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(HCC1395_BREAST)|R175H(KLE_ENDOMETRIUM)|R175H(NCIH196_LUNG)|R175H(AU565_BREAST)|R175H(TYKNU_OVARY)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(SKUT1_SOFT_TISSUE)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(LS123_LARGE_INTESTINE)|R175H(SKBR3_BREAST)|R175H(RKN_OVARY)|R175H(HUCCT1_BILIARY_TRACT) 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) C18orf34 374864 broad.mit.edu 37 18 30926368 30926368 + Missense_Mutation SNP C C G TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr18:30926368C>G uc002kxn.2 - 8 607 c.465G>C c.(463-465)AAG>AAC p.K155N C18orf34_uc010xbr.1_Missense_Mutation_p.K155N|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.K155N|C18orf34_uc002kxp.2_Missense_Mutation_p.K155N NM_001105528 NP_001098998 Q5BJE1 CR034_HUMAN hypothetical protein LOC374864 isoform 1 155 Potential. ovary(1) 1 ACTCTGGACACTTTTCATCTT 0.353000 MUC16 94025 broad.mit.edu 37 19 9010988 9010988 + Missense_Mutation SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr19:9010988G>A uc002mkp.2 - 37 39134 c.38930C>T c.(38929-38931)TCT>TTT p.S12977F MUC16_uc010xki.1_Intron NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 12979 Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GGGGGCCACAGAGCTCCGATG 0.522000 ZNF625 90589 broad.mit.edu 37 19 12256938 12256938 + Missense_Mutation SNP C C A rs112669855 TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr19:12256938C>A uc002mth.2 - 4 445 c.95G>T c.(94-96)CGA>CTA p.R32L ZNF20_uc002mtg.1_Intron|ZNF625_uc010dyn.1_RNA|ZNF625_uc010dyo.1_Missense_Mutation_p.R66L NM_145233 NP_660276 Q96I27 ZN625_HUMAN zinc finger protein 625 32 C2H2-type 1; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TGATTTTACTCGGGGAGTTTT 0.448000 ZNF208 7757 broad.mit.edu 37 19 22156673 22156673 + Missense_Mutation SNP T T G TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr19:22156673T>G uc002nqp.2 - 4 1312 c.1163A>C c.(1162-1164)AAG>ACG p.K388T ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) ATGAATTTTCTTATGATAACT 0.373000 PSG11 5680 broad.mit.edu 37 19 43523024 43523024 + Missense_Mutation SNP A A G TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr19:43523024A>G uc002ovm.1 - 3 714 c.607T>C c.(607-609)TTT>CTT p.F203L PSG11_uc002ouw.2_Missense_Mutation_p.F209L|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Missense_Mutation_p.F209L|PSG11_uc002ovn.1_Missense_Mutation_p.F209L|PSG11_uc002ovo.1_Missense_Mutation_p.F81L|PSG11_uc002ovp.1_Missense_Mutation_p.F81L NM_002785 NP_002776 Q9UQ72 PSG11_HUMAN pregnancy specific beta-1-glycoprotein 11 203 Ig-like C2-type 1. female pregnancy extracellular region 0 Prostate(69;0.00682) CCAAATAGAAAGAGGGTCCTG 0.502000 HAS1 3036 broad.mit.edu 37 19 52222534 52222534 + Silent SNP C C A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr19:52222534C>A uc002pxo.1 - 2 662 c.627G>T c.(625-627)GCG>GCT p.A209A HAS1_uc010epc.1_5'Flank|HAS1_uc010epd.1_Silent_p.A174A|HAS1_uc002pxn.1_Silent_p.A216A|HAS1_uc002pxp.1_Silent_p.A208A NM_001523 NP_001514 Q92839 HAS1_HUMAN hyaluronan synthase 1 209 Cytoplasmic (Potential). cell adhesion integral to plasma membrane hyaluronan synthase activity|protein binding ovary(1)|pancreas(1) 2 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) CCCAGCGCTGCGCCACGCACA 0.617000 POLR1A 25885 broad.mit.edu 37 2 86315780 86315780 + Silent SNP G G A rs117639882 by1000genomes TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr2:86315780G>A uc002sqs.2 - 6 1018 c.639C>T c.(637-639)TCC>TCT p.S213S POLR1A_uc002sqv.2_Silent_p.S213S NM_015425 NP_056240 O95602 RPA1_HUMAN DNA-directed RNA polymerase I A 213 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding ovary(2)|skin(1) 3 TTCGGACAACGGATCGCCCGG 0.512000 PTCD3 55037 broad.mit.edu 37 2 86364655 86364655 + Silent SNP C C T TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr2:86364655C>T uc002sqw.2 + 24 2109 c.2043C>T c.(2041-2043)AGC>AGT p.S681S PTCD3_uc002sqx.1_Silent_p.S271S NM_017952 NP_060422 Q96EY7 PTCD3_HUMAN pentatricopeptide repeat domain 3 precursor 681 mitochondrion protein binding ovary(1) 1 GCAGTGACAGCGACAGTGACA 0.453000 LOC150786 150786 broad.mit.edu 37 2 132120854 132120854 + Missense_Mutation SNP C C T TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr2:132120854C>T uc002tsr.2 - 1 878 c.440G>A c.(439-441)GGG>GAG p.G147E NM_001077637 NP_001071105 Q53S08 Q53S08_HUMAN RAB6C-like 147 protein transport|small GTPase mediated signal transduction GTP binding 0 BRCA - Breast invasive adenocarcinoma(221;0.078) AACATTCAGCCCTTTGGCTTT 0.448000 ACVR2A 92 broad.mit.edu 37 2 148602741 148602741 + Nonsense_Mutation SNP T T A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr2:148602741T>A uc002twg.2 + 2 289 c.20T>A c.(19-21)TTG>TAG p.L7* ACVR2A_uc010zbn.1_Intron|ACVR2A_uc002twh.2_Nonsense_Mutation_p.L7* NM_001616 NP_001607 P27037 AVR2A_HUMAN activin A receptor, type IIA precursor 7 activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity stomach(8)|large_intestine(2)|lung(1)|breast(1)|kidney(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.0969) GCTGCAAAGTTGGCGTTTGCC 0.637000 MAP2 4133 broad.mit.edu 37 2 210560980 210560980 + Silent SNP T T C TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr2:210560980T>C uc002vde.1 + 7 4334 c.4086T>C c.(4084-4086)TCT>TCC p.S1362S MAP2_uc002vdc.1_Silent_p.S1362S|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Silent_p.S1358S NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 1362 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1) 17 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) TTGCACTTTCTGAATATAAGA 0.502000 WNT10A 80326 broad.mit.edu 37 2 219746932 219746932 + Missense_Mutation SNP C C T TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr2:219746932C>T uc002vjd.1 + 2 626 c.163C>T c.(163-165)CTC>TTC p.L55F NM_025216 NP_079492 Q9GZT5 WN10A_HUMAN wingless-type MMTV integration site family, 55 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity lung(1)|skin(1) 2 Renal(207;0.0474) Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGAGCCCGTGCTCAATGCCAA 0.617000 HAO1 54363 broad.mit.edu 37 20 7915153 7915153 + Silent SNP G G A rs138052675 TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr20:7915153G>A uc002wmw.1 - 2 291 c.267C>T c.(265-267)GAC>GAT p.D89D HAO1_uc010gbu.2_Silent_p.D89D NM_017545 NP_060015 Q9UJM8 HAOX1_HUMAN hydroxyacid oxidase 1 89 FMN hydroxy acid dehydrogenase. cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process peroxisomal matrix FMN binding|glycolate oxidase activity|glyoxylate oxidase activity ovary(3) 3 CAAGCTCGCCGTCCACATGAG 0.522000 SULF2 55959 broad.mit.edu 37 20 46290516 46290516 + Splice_Site SNP C C T TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr20:46290516C>T uc002xto.2 - 18 2824 c.2494_splice c.e18+1 p.G832_splice SULF2_uc002xtr.2_Splice_Site_p.D832_splice|SULF2_uc002xtq.2_Splice_Site_p.G832_splice|SULF2_uc010zyd.1_Splice_Site_p.G111_splice NM_018837 NP_061325 Q8IWU5 SULF2_HUMAN sulfatase 2 isoform a precursor bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding ovary(2)|breast(2)|pancreas(1)|skin(1) 6 TGCCTACTCACCCAGGTCCAT 0.567000 SULF2 55959 broad.mit.edu 37 20 46331299 46331299 + Silent SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr20:46331299G>A uc002xto.2 - 4 861 c.531C>T c.(529-531)AAC>AAT p.N177N SULF2_uc002xtr.2_Silent_p.N177N|SULF2_uc002xtq.2_Silent_p.N177N|SULF2_uc010ghv.1_Silent_p.N177N NM_018837 NP_061325 Q8IWU5 SULF2_HUMAN sulfatase 2 isoform a precursor 177 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding ovary(2)|breast(2)|pancreas(1)|skin(1) 6 CTTTCACCCCGTTCCGACACA 0.453000 TSHZ2 128553 broad.mit.edu 37 20 51870928 51870928 + Missense_Mutation SNP A A C TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr20:51870928A>C uc002xwo.2 + 2 1887 c.931A>C c.(931-933)ACC>CCC p.T311P NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 311 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|haematopoietic_and_lymphoid_tissue(1) 6 STAD - Stomach adenocarcinoma(23;0.1) GCCAGTCCCAACCATTTCCTC 0.448000 ADARB1 104 broad.mit.edu 37 21 46602544 46602544 + Missense_Mutation SNP A A G TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr21:46602544A>G uc002zgy.2 + 6 1558 c.1123A>G c.(1123-1125)ACA>GCA p.T375A ADARB1_uc002zgr.2_Missense_Mutation_p.T375A|ADARB1_uc002zgs.2_RNA|ADARB1_uc002zgw.2_Missense_Mutation_p.T375A|ADARB1_uc002zgv.2_RNA|ADARB1_uc002zgt.2_Missense_Mutation_p.T375A|ADARB1_uc010gpx.2_RNA|ADARB1_uc002zgq.2_RNA|ADARB1_uc002zgu.2_RNA NM_015833 NP_056648 P78563 RED1_HUMAN RNA-specific adenosine deaminase B1 isoform 2 375 A to I editase. adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing nucleoplasm|nucleus double-stranded RNA adenosine deaminase activity|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding skin(1) 1 Colorectal(79;0.115) TTCTACAGGAACAAAATGTAT 0.348000 CACNA1I 8911 broad.mit.edu 37 22 40037148 40037148 + Missense_Mutation SNP C C A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr22:40037148C>A uc003ayc.2 + 6 1017 c.1017C>A c.(1015-1017)AAC>AAA p.N339K CACNA1I_uc003ayd.2_Missense_Mutation_p.N339K|CACNA1I_uc003aye.2_Missense_Mutation_p.N254K|CACNA1I_uc003ayf.2_Missense_Mutation_p.N254K NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, 339 I.|Extracellular (Potential). axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(1)|central_nervous_system(1) 2 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) GTGCCATCAACTTTGACAACA 0.577000 GPR149 344758 broad.mit.edu 37 3 154146457 154146457 + Silent SNP C C T TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr3:154146457C>T uc003faa.2 - 1 1048 c.948G>A c.(946-948)GCG>GCA p.A316A NM_001038705 NP_001033794 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 316 Helical; Name=6; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(6) 6 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) CTTTTGTAAGCGCTAGGATCA 0.562000 FXR1 8087 broad.mit.edu 37 3 180666236 180666236 + Missense_Mutation SNP T T A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr3:180666236T>A uc003fkq.2 + 5 394 c.372T>A c.(370-372)AAT>AAA p.N124K FXR1_uc003fkp.2_Missense_Mutation_p.N39K|FXR1_uc003fkr.2_Missense_Mutation_p.N124K|FXR1_uc011bqj.1_Missense_Mutation_p.N38K|FXR1_uc003fks.2_Missense_Mutation_p.N38K|FXR1_uc011bqk.1_Missense_Mutation_p.N75K|FXR1_uc011bql.1_Missense_Mutation_p.N111K NM_005087 NP_005078 P51114 FXR1_HUMAN fragile X mental retardation-related protein 1 124 apoptosis|cell differentiation|muscle organ development nucleolus|polysome breast(1) 1 all_cancers(143;6.07e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22) TCAAAAAAAATACCTTCTTTA 0.328000 BST1 683 broad.mit.edu 37 4 15733454 15733454 + Silent SNP A A C rs1058212 byFrequency TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr4:15733454A>C uc003goh.3 + 9 1138 c.943A>C c.(943-945)AGG>CGG p.R315R BST1_uc003goi.2_Intron NM_004334 NP_004325 Q10588 BST1_HUMAN bone marrow stromal cell antigen 1 precursor 315 humoral immune response|multicellular organismal development anchored to membrane|extrinsic to membrane|plasma membrane binding|NAD+ nucleosidase activity p.R315R(1) central_nervous_system(1) 1 GCTGGCTTCCAGGACTCAACT 0.493000 CWH43 80157 broad.mit.edu 37 4 49032878 49032878 + Missense_Mutation SNP C C G TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr4:49032878C>G uc003gyv.2 + 11 1591 c.1409C>G c.(1408-1410)TCT>TGT p.S470C CWH43_uc011bzl.1_Missense_Mutation_p.S443C NM_025087 NP_079363 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog 470 GPI anchor biosynthetic process integral to membrane skin(2)|ovary(1) 3 AGTGATGCTTCTAAGCCCTAT 0.403000 SCLT1 132320 broad.mit.edu 37 4 129867285 129867285 + Missense_Mutation SNP T T C TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr4:129867285T>C uc003igp.2 - 16 1822 c.1316A>G c.(1315-1317)AAT>AGT p.N439S SCLT1_uc003ign.2_Missense_Mutation_p.N103S|SCLT1_uc003igo.2_Missense_Mutation_p.N49S|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron NM_144643 NP_653244 Q96NL6 SCLT1_HUMAN sodium channel associated protein 1 439 Potential. centrosome ovary(3)|lung(1)|central_nervous_system(1) 5 ATCACTCTCATTTCCTCTGCC 0.353000 USP38 84640 broad.mit.edu 37 4 144106972 144106972 + Silent SNP C C T TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr4:144106972C>T uc003ijb.2 + 1 903 c.369C>T c.(367-369)CTC>CTT p.L123L USP38_uc003ija.3_Silent_p.L123L|USP38_uc003ijc.2_RNA NM_032557 NP_115946 Q8NB14 UBP38_HUMAN ubiquitin specific peptidase 38 123 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|ovary(1)|breast(1)|pancreas(1) 5 all_hematologic(180;0.158) TGCTGGATCTCTTTAGCCTCC 0.557000 HTR1A 3350 broad.mit.edu 37 5 63256317 63256317 + Silent SNP C C T TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr5:63256317C>T uc011cqt.1 - 1 1230 c.1230G>A c.(1228-1230)GCG>GCA p.A410A NM_000524 NP_000515 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A 410 Cytoplasmic (By similarity). behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity ovary(2)|pancreas(2) 4 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) TCTTCTTAAACGCGTTTTGAA 0.512000 CYFIP2 26999 broad.mit.edu 37 5 156753275 156753275 + Silent SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr5:156753275G>A uc003lwq.2 + 20 2217 c.2079G>A c.(2077-2079)GAG>GAA p.E693E CYFIP2_uc011ddn.1_Silent_p.E667E|CYFIP2_uc011ddo.1_Silent_p.E497E|CYFIP2_uc003lwr.2_Silent_p.E693E|CYFIP2_uc003lws.2_Silent_p.E693E|CYFIP2_uc003lwt.2_Silent_p.E596E|CYFIP2_uc011ddp.1_Silent_p.E427E NM_001037333 NP_001032410 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 718 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding 0 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TAGAAGCTGAGGCAAGTGATG 0.428000 HK3 3101 broad.mit.edu 37 5 176308118 176308118 + Missense_Mutation SNP C C A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr5:176308118C>A uc003mfa.2 - 19 2820 c.2728G>T c.(2728-2730)GTC>TTC p.V910F HK3_uc003mez.2_Missense_Mutation_p.V466F NM_002115 NP_002106 P52790 HXK3_HUMAN hexokinase 3 910 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1) 7 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ACAGCGGTGACCAGGGCCGCA 0.677000 HIST1H3H 8357 broad.mit.edu 37 6 27778143 27778143 + Missense_Mutation SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr6:27778143G>A uc003njm.2 + 1 302 c.292G>A c.(292-294)GAG>AAG p.E98K HIST1H2BL_uc003njl.2_5'Flank NM_003536 NP_003527 P68431 H31_HUMAN histone cluster 1, H3h 98 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding ovary(1) 1 AGAGGCATGCGAGGCCTACCT 0.602000 BAI3 577 broad.mit.edu 37 6 69943236 69943236 + Missense_Mutation SNP T T G TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr6:69943236T>G uc003pev.3 + 18 2983 c.2535T>G c.(2533-2535)GAT>GAG p.D845E BAI3_uc010kak.2_Missense_Mutation_p.D845E|BAI3_uc011dxx.1_Missense_Mutation_p.D51E|BAI3_uc003pex.1_5'Flank NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 845 GPS.|Extracellular (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) TGCTTACCGATGCATCCCATA 0.483000 LAMA4 3910 broad.mit.edu 37 6 112528344 112528344 + Silent SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr6:112528344G>A uc003pvu.2 - 4 609 c.300C>T c.(298-300)CAC>CAT p.H100H LAMA4_uc003pvv.2_Silent_p.H100H|LAMA4_uc003pvt.2_Silent_p.H100H NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 100 Laminin EGF-like 1. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) TCCGCTGGCAGTGCTATGAGA 0.463000 GPRC6A 222545 broad.mit.edu 37 6 117128249 117128249 + Missense_Mutation SNP C C T TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr6:117128249C>T uc003pxj.1 - 3 641 c.619G>A c.(619-621)GGT>AGT p.G207S GPRC6A_uc003pxk.1_Missense_Mutation_p.G207S|GPRC6A_uc003pxl.1_Missense_Mutation_p.G207S NM_148963 NP_683766 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, 207 Extracellular (Potential). response to amino acid stimulus G-protein coupled receptor activity ovary(4)|skin(2) 6 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) CAGTTCCAACCAGATTTCTGA 0.408000 ROS1 6098 broad.mit.edu 37 6 117662377 117662377 + Missense_Mutation SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr6:117662377G>A uc003pxp.1 - 30 5199 c.5000C>T c.(4999-5001)CCA>CTA p.P1667L ROS1_uc011ebi.1_Intron|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 1667 Fibronectin type-III 8.|Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) AGTGTTCTCTGGAACCAAGGA 0.413000 T GOPC|ROS1 glioblastoma|NSCLC PCLO 27445 broad.mit.edu 37 7 82544523 82544523 + Missense_Mutation SNP A A C TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr7:82544523A>C uc003uhx.2 - 7 13068 c.12779T>G c.(12778-12780)CTT>CGT p.L4260R PCLO_uc003uhv.2_Missense_Mutation_p.L4260R|PCLO_uc010lec.2_Missense_Mutation_p.L1225R NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 4191 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TCCTGTGCCAAGAGAAGATCC 0.428000 AKAP9 10142 broad.mit.edu 37 7 91727029 91727029 + Missense_Mutation SNP C C A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr7:91727029C>A uc003ulg.2 + 42 10753 c.10528C>A c.(10528-10530)CAT>AAT p.H3510N AKAP9_uc003ulf.2_Missense_Mutation_p.H3502N|AKAP9_uc003uli.2_Missense_Mutation_p.H3133N|AKAP9_uc003ulj.2_Missense_Mutation_p.H1280N|AKAP9_uc003ull.2_Missense_Mutation_p.H406N NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 3514 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) CGGCTGTAATCATGAATTAGA 0.378000 T BRAF papillary thyroid SAMD9L 219285 broad.mit.edu 37 7 92760694 92760694 + Missense_Mutation SNP C C T TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr7:92760694C>T uc003umh.1 - 5 5807 c.4591G>A c.(4591-4593)GGC>AGC p.G1531S SAMD9L_uc003umj.1_Missense_Mutation_p.G1531S|SAMD9L_uc003umi.1_Missense_Mutation_p.G1531S|SAMD9L_uc010lfb.1_Missense_Mutation_p.G1531S|SAMD9L_uc003umk.1_Missense_Mutation_p.G1531S|SAMD9L_uc010lfc.1_Missense_Mutation_p.G1531S|SAMD9L_uc010lfd.1_Missense_Mutation_p.G1531S|SAMD9L_uc011khx.1_3'UTR NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 1531 ovary(4) 4 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) ATTAGCTTGCCTTCAGCCTGA 0.398000 STAG3 10734 broad.mit.edu 37 7 99808776 99808776 + Silent SNP A A G TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr7:99808776A>G uc003utx.1 + 30 3536 c.3381A>G c.(3379-3381)GAA>GAG p.E1127E STAG3_uc011kjk.1_Silent_p.E1069E|GATS_uc003uty.3_Intron|GATS_uc003utz.3_Intron|GATS_uc003uua.3_Intron|GATS_uc010lgt.2_Intron|STAG3_uc003uub.1_Silent_p.E351E NM_012447 NP_036579 Q9UJ98 STAG3_HUMAN stromal antigen 3 1127 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding ovary(4)|skin(2)|lung(1)|kidney(1) 8 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) AGATGGAGGAAGAAGATGGCT 0.577000 CFTR 1080 broad.mit.edu 37 7 117232021 117232021 + Silent SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr7:117232021G>A uc003vjd.2 + 14 1932 c.1800G>A c.(1798-1800)AGG>AGA p.R600R CFTR_uc011knq.1_Silent_p.R6R NM_000492 NP_000483 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance 600 Cytoplasmic (Potential).|ABC transporter 1. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding central_nervous_system(2)|skin(2)|ovary(1) 5 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) ACAAAACTAGGATTTTGGTCA 0.279000 Cystic_Fibrosis KCND2 3751 broad.mit.edu 37 7 120373007 120373007 + Missense_Mutation SNP T T C TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr7:120373007T>C uc003vjj.1 + 2 2131 c.1166T>C c.(1165-1167)ATC>ACC p.I389T NM_012281 NP_036413 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related 389 Helical; Name=Segment S6; (Potential). regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 all_neural(327;0.117) TTTGGTTCTATCTGTTCGCTG 0.408000 CHRM2 1129 broad.mit.edu 37 7 136699939 136699939 + Silent SNP C C G TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr7:136699939C>G uc003vtf.1 + 4 950 c.327C>G c.(325-327)GCC>GCG p.A109A CHRM2_uc003vtg.1_Silent_p.A109A|CHRM2_uc003vtj.1_Silent_p.A109A|CHRM2_uc003vtk.1_Silent_p.A109A|CHRM2_uc003vtl.1_Silent_p.A109A|CHRM2_uc003vtm.1_Silent_p.A109A|CHRM2_uc003vti.1_Silent_p.A109A|CHRM2_uc003vto.1_Silent_p.A109A|CHRM2_uc003vtn.1_Silent_p.A109A|uc003vtp.1_Intron NM_001006630 NP_001006631 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 109 Helical; Name=3; (By similarity). activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding ovary(4)|central_nervous_system(1) 5 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) TCAGCAATGCCTCAGTTATGA 0.488000 KCNH2 3757 broad.mit.edu 37 7 150654535 150654535 + Silent SNP G G A rs146297032 TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr7:150654535G>A uc003wic.2 - 5 985 c.972C>T c.(970-972)CTC>CTT p.L324L KCNH2_uc003wib.2_5'Flank|KCNH2_uc011kux.1_Silent_p.L228L|KCNH2_uc003wid.2_5'Flank|KCNH2_uc003wie.2_Silent_p.L324L NM_000238 NP_000229 Q12809 KCNH2_HUMAN voltage-gated potassium channel, subfamily H, 324 Cytoplasmic (Potential). blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity skin(3)|ovary(1) 4 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) GGTAGCGCACGAGGTCGGAGT 0.632000 SHH 6469 broad.mit.edu 37 7 155599103 155599103 + Missense_Mutation SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr7:155599103G>A uc003wmk.1 - 2 600 c.449C>T c.(448-450)ACG>ATG p.T150M SHH_uc003wmh.1_RNA|SHH_uc003wmi.1_Missense_Mutation_p.T63M|SHH_uc003wmj.1_Missense_Mutation_p.T63M NM_000193 NP_000184 Q15465 SHH_HUMAN sonic hedgehog preproprotein 150 T -> R (in HPE3).|T -> K (in HPE3). androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development cell surface|extracellular space|membrane raft|plasma membrane calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding central_nervous_system(3)|lung(1) 4 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00882) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCGGTCAGACGTGGTGATGTC 0.642000 RHOBTB2 23221 broad.mit.edu 37 8 22868070 22868070 + Missense_Mutation SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr8:22868070G>A uc003xcq.2 + 7 2177 c.1640G>A c.(1639-1641)AGC>AAC p.S547N RHOBTB2_uc003xcp.2_Missense_Mutation_p.S569N|RHOBTB2_uc011kzp.1_Missense_Mutation_p.S554N|uc003xcr.2_Intron NM_015178 NP_055993 Q9BYZ6 RHBT2_HUMAN Rho-related BTB domain containing 2 isoform 3 547 BTB 2. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding ovary(1)|lung(1) 2 Prostate(55;0.0513)|Breast(100;0.214) Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064) CCCTACACAAGCAAGAGCTGC 0.542000 XKR4 114786 broad.mit.edu 37 8 56270253 56270253 + Silent SNP A A T TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr8:56270253A>T uc003xsf.2 + 2 854 c.822A>T c.(820-822)ATA>ATT p.I274I NM_052898 NP_443130 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related 274 integral to membrane pancreas(2) 2 Epithelial(17;0.000117)|all cancers(17;0.000836) TCCACACAATATACTTAGGTA 0.388000 FBXO43 286151 broad.mit.edu 37 8 101149837 101149837 + Missense_Mutation SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr8:101149837G>A uc003yjd.2 - 3 2343 c.1630C>T c.(1630-1632)CGG>TGG p.R544W FBXO43_uc003yje.2_Missense_Mutation_p.R510W|FBXO43_uc010mbp.1_Missense_Mutation_p.R544W NM_001029860 NP_001025031 Q4G163 FBX43_HUMAN F-box protein 43 isoform b 544 F-box. meiosis zinc ion binding kidney(1)|skin(1) 2 all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798) Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957) TTCCTCCTCCGATTTGCATTT 0.289000 SMARCA2 6595 broad.mit.edu 37 9 2123850 2123850 + Silent SNP A A G rs141291951 TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr9:2123850A>G uc003zhc.2 + 27 3993 c.3894A>G c.(3892-3894)GAA>GAG p.E1298E SMARCA2_uc003zhd.2_Silent_p.E1298E|SMARCA2_uc010mha.2_Silent_p.E1231E NM_003070 NP_003061 P51531 SMCA2_HUMAN SWI/SNF-related matrix-associated 1298 Poly-Glu. chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding ovary(2)|central_nervous_system(1) 3 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) CCTGTGAAGAAGAGGAGGAGA 0.562000 IFNA10 3446 broad.mit.edu 37 9 21206570 21206570 + Missense_Mutation SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr9:21206570G>A uc003zoq.1 - 1 573 c.527C>T c.(526-528)TCG>TTG p.S176L IFNA14_uc003zoo.1_Intron NM_002171 NP_002162 P01566 IFN10_HUMAN interferon, alpha 10 precursor 176 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding 0 Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17) TGTTGAAAACGAGAGGGATCT 0.388000 KIF24 347240 broad.mit.edu 37 9 34257621 34257621 + Missense_Mutation SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr9:34257621G>A uc003zua.3 - 11 2104 c.1984C>T c.(1984-1986)CCA>TCA p.P662S KIF24_uc010mkb.2_Intron NM_194313 NP_919289 Q5T7B8 KIF24_HUMAN kinesin family member 24 662 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity central_nervous_system(1) 1 LUSC - Lung squamous cell carcinoma(29;0.0107) GACTCTTCTGGCTTTTTTTTG 0.522000 SHC3 53358 broad.mit.edu 37 9 91657058 91657058 + Missense_Mutation SNP C C T TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr9:91657058C>T uc004aqg.2 - 10 1550 c.1243G>A c.(1243-1245)GTG>ATG p.V415M NM_016848 NP_058544 Q92529 SHC3_HUMAN src homology 2 domain-containing transforming 415 CH1. central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol protein binding|signal transducer activity lung(3)|skin(1) 4 GTGGGGGCCACGTGCAGTTTC 0.582000 GABBR2 9568 broad.mit.edu 37 9 101065617 101065617 + Missense_Mutation SNP G G A rs138346207 by1000genomes TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr9:101065617G>A uc004ays.2 - 16 2474 c.2318C>T c.(2317-2319)ACG>ATG p.T773M NM_005458 NP_005449 O75899 GABR2_HUMAN G protein-coupled receptor 51 precursor 773 Cytoplasmic (Potential). negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity ovary(2)|skin(2) 4 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) CGAGGTGGACGTTTTAGAATC 0.507000 LAMC3 10319 broad.mit.edu 37 9 133932371 133932371 + Silent SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr9:133932371G>A uc004caa.1 + 12 2093 c.1995G>A c.(1993-1995)CCG>CCA p.P665P NM_006059 NP_006050 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 precursor 665 Laminin IV type A. cell adhesion basement membrane|membrane structural molecule activity ovary(2)|pancreas(1) 3 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) GGCTTTCCCCGCCAGCCTCCT 0.617000 CAMSAP1 157922 broad.mit.edu 37 9 138713938 138713938 + Nonsense_Mutation SNP G G A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chr9:138713938G>A uc004cgr.3 - 11 2569 c.2569C>T c.(2569-2571)CAG>TAG p.Q857* CAMSAP1_uc004cgq.3_Nonsense_Mutation_p.Q747*|CAMSAP1_uc010nbg.2_Nonsense_Mutation_p.Q579* NM_015447 NP_056262 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 857 cytoplasm|microtubule ovary(1)|central_nervous_system(1)|pancreas(1) 3 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) TCCCTCTTCTGCCTCCACGTC 0.622000 DDX3X 1654 broad.mit.edu 37 X 41204467 41204467 + Missense_Mutation SNP G G T TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chrX:41204467G>T uc004dfe.2 + 11 1915 c.1060G>T c.(1060-1062)GAT>TAT p.D354Y DDX3X_uc004dff.2_Missense_Mutation_p.D354Y|DDX3X_uc011mkq.1_Missense_Mutation_p.D338Y|DDX3X_uc011mkr.1_Missense_Mutation_p.D354Y|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_RNA NM_001356 NP_001347 O00571 DDX3X_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3 354 Necessary for interaction with XPO1.|Helicase ATP-binding. interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding ovary(2)|breast(2)|central_nervous_system(1)|skin(1) 6 TCGGATGTTGGATATGGGGTT 0.398000 HNSCC(61;0.18) HUWE1 10075 broad.mit.edu 37 X 53672407 53672407 + Silent SNP T T C TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chrX:53672407T>C uc004dsp.2 - 7 762 c.360A>G c.(358-360)ACA>ACG p.T120T NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 120 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 CCAATAAAGTTGTCAAATGCT 0.398000 EDA2R 60401 broad.mit.edu 37 X 65835851 65835851 + Missense_Mutation SNP T T G TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chrX:65835851T>G uc004dwq.2 - 1 23 c.12A>C c.(10-12)CAA>CAC p.Q4H EDA2R_uc004dwr.2_Missense_Mutation_p.Q4H|EDA2R_uc004dws.2_Missense_Mutation_p.Q4H|EDA2R_uc011mpb.1_RNA|EDA2R_uc011mpc.1_5'UTR|EDA2R_uc010nkt.1_Missense_Mutation_p.Q4H|EDA2R_uc004dwt.1_Missense_Mutation_p.Q4H NM_021783 NP_068555 Q9HAV5 TNR27_HUMAN X-linked ectodysplasin receptor 4 TNFR-Cys 1.|Extracellular (Potential). cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity integral to plasma membrane tumor necrosis factor receptor activity upper_aerodigestive_tract(1) 1 ACTCATTTTCTTGGCAATCCA 0.502000 KIAA2022 340533 broad.mit.edu 37 X 73961095 73961095 + Missense_Mutation SNP T T A TCGA-BR-8484-01A-11D-2394-08 TCGA-BR-8484-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f00fcf3-f10e-4c22-b4ea-d9cc765d2647 fb53f86c-6077-4496-a222-35622ccdedf8 g.chrX:73961095T>A uc004eby.2 - 3 3914 c.3297A>T c.(3295-3297)CAA>CAT p.Q1099H NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 1099 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 GGACACCCTCTTGGAACCCCT 0.478000