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 isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample C1orf158 93190 broad.mit.edu 37 1 12819342 12819342 + Missense_Mutation SNP C C T TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr1:12819342C>T uc001auh.2 + 3 541 c.325C>T c.(325-327)CCG>TCG p.P109S C1orf158_uc010obe.1_Missense_Mutation_p.P109S NM_152290 NP_689503 Q8N1D5 CA158_HUMAN hypothetical protein LOC93190 109 ovary(1)|central_nervous_system(1)|skin(1) 3 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) TGGTTACAACCCGGGGCTGCC 0.537 NaN 0 0 0 0.006122 0 17 182 PTPRU 10076 broad.mit.edu 37 1 29651735 29651735 + Missense_Mutation SNP C C T TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr1:29651735C>T uc001bru.2 + 30 4285 c.4175C>T c.(4174-4176)GCC>GTC p.A1392V PTPRU_uc001brv.2_Missense_Mutation_p.A1388V|PTPRU_uc001brw.2_Missense_Mutation_p.A1382V|PTPRU_uc009vtq.2_Missense_Mutation_p.A1386V|PTPRU_uc009vtr.2_Missense_Mutation_p.A1379V|PTPRU_uc001brx.2_Missense_Mutation_p.A118V NM_005704 NP_005695 Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 1392 Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential). canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 7 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) ACCTTCTGCGCCTGCGCCACG 0.577 NaN 0 0 0 0.010729 0 9 89 IL23R 149233 broad.mit.edu 37 1 67666418 67666418 + Splice_Site SNP A A C TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr1:67666418A>C uc001ddo.2 + 5 577 c.492_splice c.e5-2 p.S164_splice IL23R_uc009waz.2_Intron|IL23R_uc001ddp.2_Splice_Site|IL23R_uc010opi.1_Splice_Site|IL23R_uc010opj.1_Intron|IL23R_uc010opk.1_Splice_Site_p.S121_splice|IL23R_uc010opl.1_Intron|IL23R_uc010opm.1_Splice_Site|IL23R_uc001ddq.2_Intron|IL23R_uc010opn.1_Splice_Site_p.I9_splice|IL23R_uc001ddr.2_Splice_Site|IL23R_uc010opo.1_Splice_Site_p.S23_splice|IL23R_uc010opp.1_Splice_Site|IL23R_uc010opq.1_Splice_Site_p.S23_splice|IL23R_uc010opr.1_Splice_Site|IL23R_uc010ops.1_Intron|IL23R_uc010opt.1_Splice_Site|IL23R_uc010opu.1_Intron|IL23R_uc010opv.1_Splice_Site_p.S23_splice|IL23R_uc010opw.1_Intron|IL23R_uc010opx.1_Intron|IL23R_uc010opy.1_Intron|IL23R_uc010opz.1_Intron|IL23R_uc010oqa.1_Splice_Site|IL23R_uc010oqb.1_Splice_Site_p.S23_splice|IL23R_uc010oqc.1_Intron|IL23R_uc010oqd.1_Intron|IL23R_uc010oqe.1_Intron|IL23R_uc010oqf.1_Intron|IL23R_uc010oqg.1_Splice_Site|IL23R_uc010oqh.1_Intron NM_144701 NP_653302 Q5VWK5 IL23R_HUMAN interleukin 23 receptor precursor inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide interleukin-23 receptor complex receptor activity 0 TTTTGTTTTAAGTTTAGAGAC 0.239 NaN 0 0 0 0.001168 0 5 75 NRAS 4893 broad.mit.edu 37 1 115258745 115258745 + Missense_Mutation SNP C C G rs121434595 TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr1:115258745C>G uc009wgu.2 - 2 291 c.37G>C c.(37-39)GGT>CGT p.G13R NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 13 GTP. G -> D (in a patient with an autoimmune lymphoproliferative disorder).|G -> R (in colorectal cancer). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.G13D(174)|p.G13R(59)|p.G13V(55)|p.G13C(21)|p.G13A(16)|p.G13S(5)|p.G13G(3)|p.G13N(1)|p.G13Y(1) haematopoietic_and_lymphoid_tissue(1008)|skin(956)|thyroid(334)|large_intestine(62)|NS(60)|soft_tissue(32)|lung(31)|upper_aerodigestive_tract(25)|urinary_tract(12)|liver(10)|adrenal_gland(9)|autonomic_ganglia(8)|testis(8)|central_nervous_system(8)|prostate(8)|breast(7)|biliary_tract(6)|ovary(6)|stomach(5)|pancreas(5)|endometrium(2)|kidney(2)|cervix(2)|eye(1) 2607 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TTCCCAACACCACCTGCTCCA 0.498 G13R(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 50 Mis melanoma|MM|AML|thyroid Noonan_syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 0 0 0 0.006214 0 9 97 RUSC1 23623 broad.mit.edu 37 1 155294949 155294949 + Missense_Mutation SNP G G A TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr1:155294949G>A uc001fkj.2 + 4 1742 c.1513G>A c.(1513-1515)GCC>ACC p.A505T RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fki.2_5'Flank|RUSC1_uc001fkk.2_Missense_Mutation_p.A505T|RUSC1_uc009wqn.1_Intron|RUSC1_uc009wqo.1_Missense_Mutation_p.A36T|RUSC1_uc001fkl.2_Missense_Mutation_p.A95T|RUSC1_uc001fkp.2_Missense_Mutation_p.A36T|RUSC1_uc001fkq.2_Missense_Mutation_p.A36T|RUSC1_uc010pgb.1_Missense_Mutation_p.A36T|RUSC1_uc009wqp.1_5'UTR|RUSC1_uc001fkn.2_5'UTR|RUSC1_uc001fko.2_RNA|RUSC1_uc001fkr.2_Missense_Mutation_p.A36T|RUSC1_uc001fks.2_5'Flank NM_001105203 NP_001098673 Q9BVN2 RUSC1_HUMAN RUN and SH3 domain containing 1 isoform a 505 cytoplasm|nucleolus SH3/SH2 adaptor activity ovary(2) 2 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) TTTCGGGGCCGCCCGGAACTT 0.622 NaN OREG0013860 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.014323 0 19 146 MPZ 4359 broad.mit.edu 37 1 161276712 161276712 + Splice_Site SNP C C A TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr1:161276712C>A uc001gaf.3 - 3 302 c.265_splice c.e3-1 p.I89_splice MPZ_uc010pko.1_Splice_Site NM_000530 NP_000521 P25189 MYP0_HUMAN myelin protein zero synaptic transmission integral to plasma membrane structural molecule activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 all_cancers(52;6.96e-17)|all_hematologic(112;0.093) Breast(1374;0.181) BRCA - Breast invasive adenocarcinoma(70;0.00376) AGTGGAAGATCTATGAGGAAT 0.463 NaN 1 0 1.836e-18 0.003755 2.13644e-18 37 68 EPRS 2058 broad.mit.edu 37 1 220195731 220195731 + Missense_Mutation SNP C C T TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr1:220195731C>T uc001hly.1 - 9 1343 c.1073G>A c.(1072-1074)CGC>CAC p.R358H EPRS_uc010puf.1_Missense_Mutation_p.R109H|EPRS_uc001hlz.1_Missense_Mutation_p.R358H|EPRS_uc009xdt.1_Missense_Mutation_p.R159H NM_004446 NP_004437 P07814 SYEP_HUMAN glutamyl-prolyl tRNA synthetase 358 Glutamyl-tRNA synthetase. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) AATTTTGCAGCGATAAAGGGT 0.383 NaN 0 0 0 0.008291 0 11 204 CUL2 8453 broad.mit.edu 37 10 35360158 35360158 + Missense_Mutation SNP C C T TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr10:35360158C>T uc001ixv.2 - 2 298 c.88G>A c.(88-90)GTC>ATC p.V30I CUL2_uc009xma.2_5'UTR|CUL2_uc010qer.1_Missense_Mutation_p.V49I|CUL2_uc001ixw.2_Missense_Mutation_p.V30I|CUL2_uc010qes.1_Missense_Mutation_p.V30I NM_003591 NP_003582 Q13617 CUL2_HUMAN cullin 2 30 cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex ubiquitin protein ligase binding ovary(3) 3 GCTCTTTCGACGTATTCCAAC 0.358 NaN 0 0 0 0.001855 0 12 70 HK1 3098 broad.mit.edu 37 10 71149006 71149006 + Missense_Mutation SNP G G A TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr10:71149006G>A uc001jpl.3 + 14 2090 c.1989G>A c.(1987-1989)ATG>ATA p.M663I HK1_uc001jpg.3_Missense_Mutation_p.M651I|HK1_uc001jph.3_Missense_Mutation_p.M667I|HK1_uc001jpi.3_Missense_Mutation_p.M667I|HK1_uc001jpj.3_Missense_Mutation_p.M698I|HK1_uc001jpk.3_Missense_Mutation_p.M662I|HK1_uc009xqd.2_Missense_Mutation_p.M541I NM_000188 NP_000179 P19367 HXK1_HUMAN hexokinase 1 isoform HKI 663 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane|nucleus ATP binding|glucokinase activity ovary(1) 1 GCACCATGATGACCTGTGCTT 0.527 NaN 0 0 0 0.004672 0 3 15 KIAA1274 27143 broad.mit.edu 37 10 72292376 72292376 + Splice_Site SNP G G T TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr10:72292376G>T uc001jrd.3 + 6 915 c.634_splice c.e6-1 p.I212_splice NM_014431 NP_055246 Q9ULE6 PALD_HUMAN KIAA1274 ovary(2)|central_nervous_system(1) 3 CCTCCCTCTAGATCCACGACT 0.597 NaN 1 0 0.00909568 0.009096 0.00938909 4 70 C10orf54 64115 broad.mit.edu 37 10 73521607 73521607 + Missense_Mutation SNP G G A TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr10:73521607G>A uc001jsd.2 - 2 400 c.259C>T c.(259-261)CGG>TGG p.R87W CDH23_uc001jrx.3_Intron|C10orf54_uc001jse.2_5'UTR|C10orf54_uc009xqm.2_Intron|C10orf54_uc001jsf.1_Missense_Mutation_p.R87W NM_022153 NP_071436 Q9H7M9 GI24_HUMAN platelet receptor Gi24 precursor 87 Ig-like.|Extracellular (Potential). integral to membrane receptor activity ovary(1)|breast(1)|central_nervous_system(1) 3 CGGATGGGCCGGCGCTCTGAG 0.652 NaN 0 0 0 0.004672 0 3 43 ECD 11319 broad.mit.edu 37 10 74896575 74896575 + Missense_Mutation SNP C C T TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr10:74896575C>T uc001jtn.2 - 13 1834 c.1591G>A c.(1591-1593)GAA>AAA p.E531K ECD_uc009xqx.2_Missense_Mutation_p.E564K|ECD_uc009xqy.2_Missense_Mutation_p.E488K|ECD_uc001jto.2_Missense_Mutation_p.E230K NM_007265 NP_009196 O95905 SGT1_HUMAN suppressor of S. cerevisiae gcr2 isoform 1 531 regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus transcription coactivator activity pancreas(1) 1 Prostate(51;0.0119) GAAGCCTCTTCGCCAGGTTCG 0.448 NaN 0 0 0 0.006214 0 9 165 SORCS1 114815 broad.mit.edu 37 10 108459108 108459108 + Missense_Mutation SNP G G A TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr10:108459108G>A uc001kym.2 - 9 1285 c.1277C>T c.(1276-1278)GCG>GTG p.A426V SORCS1_uc001kyl.2_Missense_Mutation_p.A426V|SORCS1_uc009xxs.2_Missense_Mutation_p.A426V|SORCS1_uc001kyn.1_Missense_Mutation_p.A426V|SORCS1_uc001kyo.2_Missense_Mutation_p.A426V NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 426 Lumenal (Potential). integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) TTCTTGGACCGCTGCGAACAC 0.478 NaN 0 0 0 0.001168 0 5 34 TRUB1 142940 broad.mit.edu 37 10 116731913 116731913 + Missense_Mutation SNP G G C TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr10:116731913G>C uc001lcd.2 + 6 677 c.616G>C c.(616-618)GAT>CAT p.D206H TRUB1_uc010qsl.1_Missense_Mutation_p.D108H NM_139169 NP_631908 Q8WWH5 TRUB1_HUMAN TruB pseudouridine (psi) synthase homolog 1 206 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding 0 Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245) Epithelial(162;0.00879)|all cancers(201;0.0243) ATTAAAGAAAGATGGACAAAG 0.413 NaN 0 0 0 0.014323 0 21 34 SEC23IP 11196 broad.mit.edu 37 10 121677504 121677504 + Missense_Mutation SNP G G C TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr10:121677504G>C uc001leu.1 + 9 1773 c.1701G>C c.(1699-1701)ATG>ATC p.M567I SEC23IP_uc010qtc.1_Missense_Mutation_p.M356I|SEC23IP_uc009xzk.1_5'Flank NM_007190 NP_009121 Q9Y6Y8 S23IP_HUMAN Sec23-interacting protein p125 567 Golgi organization|intracellular protein transport endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment metal ion binding ovary(3) 3 Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234) all cancers(201;0.00515) CACTCTTTATGAGTCGGAACC 0.363 NaN 0 0 0 0.010729 0 10 82 DCHS1 8642 broad.mit.edu 37 11 6661191 6661191 + Missense_Mutation SNP C C T TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr11:6661191C>T uc001mem.1 - 2 2064 c.1654G>A c.(1654-1656)GAT>AAT p.D552N NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 552 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGGCCACCATCTGTGGCCACC 0.547 NaN 0 0 0 0.013537 0 13 82 PPFIBP2 8495 broad.mit.edu 37 11 7642183 7642183 + Silent SNP C C T rs150433585 TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr11:7642183C>T uc001mfj.3 + 7 1024 c.636C>T c.(634-636)CTC>CTT p.L212L PPFIBP2_uc010rbb.1_Silent_p.L135L|PPFIBP2_uc001mfk.1_Intron|PPFIBP2_uc010rbc.1_Silent_p.L135L|PPFIBP2_uc010rbd.1_Silent_p.L54L|PPFIBP2_uc010rbe.1_Silent_p.L100L|PPFIBP2_uc001mfl.3_Silent_p.L69L NM_003621 NP_003612 Q8ND30 LIPB2_HUMAN PTPRF interacting protein, binding protein 2 212 Potential. cell communication|DNA integration intracellular DNA binding|integrase activity|protein binding ovary(2)|breast(2) 4 Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236) TGCAAGAGCTCAGGCACCTCA 0.423 NaN 0 0 0 0.00874 0 36 29 CDCA5 113130 broad.mit.edu 37 11 64846850 64846850 + Missense_Mutation SNP T T A TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr11:64846850T>A uc001ocp.2 - 5 818 c.653A>T c.(652-654)AAG>ATG p.K218M NM_080668 NP_542399 Q96FF9 CDCA5_HUMAN cell division cycle associated 5 218 cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin cytoplasm|nuclear chromatin|plasma membrane chromatin binding|identical protein binding 0 TTTCTTCTTCTTACGTTTCTG 0.567 NaN 0 0 0 0.000602 0 4 50 PRCP 5547 broad.mit.edu 37 11 82549509 82549509 + Missense_Mutation SNP C C G TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr11:82549509C>G uc001ozs.2 - 8 1307 c.1194G>C c.(1192-1194)TGG>TGC p.W398C PRCP_uc001ozr.2_Missense_Mutation_p.W419C NM_005040 NP_005031 P42785 PCP_HUMAN prolylcarboxypeptidase isoform 1 preproprotein 398 blood coagulation, intrinsic pathway|proteolysis lysosome|plasma membrane protein binding|serine-type carboxypeptidase activity skin(1) 1 GTCTCACACCCCACTGTTGAA 0.418 NaN 0 0 0 0.010729 0 11 31 CASP4 837 broad.mit.edu 37 11 104825572 104825573 + Missense_Mutation DNP CG CG AA TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr11:104825572_104825573CG>AA uc001pid.1 - 2 236_237 c.163_164CG>TT c.(163-165)CGG>TTG p.R55L CASP4_uc001pib.1_5'UTR|CASP4_uc009yxg.1_5'UTR|CASP4_uc010rux.1_Missense_Mutation_p.R55L|CASP4_uc010ruy.1_Missense_Mutation_p.R55L NM_001225 NP_001216 P49662 CASP4_HUMAN caspase 4 isoform alpha precursor 55 CARD. apoptosis|induction of apoptosis|proteolysis intracellular cysteine-type endopeptidase activity|protein binding lung(2)|ovary(1)|skin(1) 4 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357) TGCCATGACCCGAACTTTGTCT 0.386 NaN 0 0 0 0.004672 0 9 87 C11orf87 399947 broad.mit.edu 37 11 109294575 109294575 + Silent SNP C C T TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr11:109294575C>T uc001pkn.2 + 2 590 c.216C>T c.(214-216)TTC>TTT p.F72F C11orf87_uc010rwb.1_5'Flank NM_207645 NP_997528 Q6NUJ2 CK087_HUMAN hypothetical protein LOC399947 precursor 72 Helical; (Potential). integral to membrane ovary(2) 2 CCCTCATCTTCTGCCTCATCG 0.572 NaN 0 0 0 0.00308 0 8 71 OR6T1 219874 broad.mit.edu 37 11 123813872 123813872 + Missense_Mutation SNP A A G TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr11:123813872A>G uc010sab.1 - 1 674 c.674T>C c.(673-675)GTT>GCT p.V225A NM_001005187 NP_001005187 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, 225 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) GGCCCTGAGAACAGTGGCAAG 0.527 NaN 0 0 0 0.001168 0 6 47 OPCML 4978 broad.mit.edu 37 11 132306671 132306671 + Missense_Mutation SNP G G A TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr11:132306671G>A uc001qgs.2 - 5 717 c.667C>T c.(667-669)CCT>TCT p.P223S OPCML_uc001qgu.2_Missense_Mutation_p.P216S|OPCML_uc010sck.1_Missense_Mutation_p.P223S|OPCML_uc001qgt.2_Missense_Mutation_p.P222S|OPCML_uc010scl.1_Missense_Mutation_p.P182S NM_002545 NP_002536 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion 223 Ig-like C2-type 3. cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity ovary(2)|skin(1) 3 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) ATATAGGGAGGATCTGTGGGA 0.393 NaN 0 0 0 0.004672 0 3 20 KCNA1 3736 broad.mit.edu 37 12 5020706 5020706 + Silent SNP C C A TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr12:5020706C>A uc001qnh.2 + 2 1267 c.162C>A c.(160-162)ACC>ACA p.T54T NM_000217 NP_000208 Q09470 KCNA1_HUMAN potassium voltage-gated channel subfamily A 54 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity ovary(1)|skin(1) 2 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) AGCTCAAGACCCTGGCGCAGT 0.637 NaN 1 0 2.21704e-12 0.00278 2.55658e-12 23 50 ABCC9 10060 broad.mit.edu 37 12 22015990 22015990 + Splice_Site SNP T T A TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr12:22015990T>A uc001rfi.1 - 18 2258 c.2238_splice c.e18-1 p.S746_splice ABCC9_uc001rfh.2_Splice_Site_p.S746_splice|ABCC9_uc001rfj.1_Splice_Site_p.S710_splice NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity ovary(4)|skin(2) 6 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CTGTTCCTACTGAAAAATGAA 0.318 NaN 0 0 0 0.009096 0 4 44 RNFT2 84900 broad.mit.edu 37 12 117274059 117274059 + Missense_Mutation SNP T T C TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr12:117274059T>C uc009zwn.2 + 10 1405 c.1172T>C c.(1171-1173)TTC>TCC p.F391S RNFT2_uc001twb.3_Missense_Mutation_p.F391S|RNFT2_uc001twa.3_Missense_Mutation_p.F301S|RNFT2_uc001twc.3_Missense_Mutation_p.F139S NM_001109903 NP_001103373 Q96EX2 RNFT2_HUMAN transmembrane protein 118 isoform 1 391 Extracellular (Potential).|RING-type. integral to membrane zinc ion binding 0 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.034) CAGGCCGAGTTCCGAGAGCCT 0.602 NaN 0 0 0 0.004672 0 3 6 NCOR2 9612 broad.mit.edu 37 12 124816920 124816920 + Missense_Mutation SNP C C G TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 C G C C Valid Somatic Phase_I WXS RNASeq Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr12:124816920C>G uc010tay.1 - 45 7035 c.6879G>C c.(6877-6879)AAG>AAC p.K2293N NCOR2_uc010taz.1_Missense_Mutation_p.K2277N|NCOR2_uc010tax.1_Missense_Mutation_p.K404N NM_006312 NP_006303 Q9Y618 NCOR2_HUMAN nuclear receptor co-repressor 2 isoform 1 2294 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity skin(3)|ovary(1) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) TCTCTTGCTTCTTGGACTTGA 0.587 NaN OREG0022237 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.006214 0 9 111 SACS 26278 broad.mit.edu 37 13 23906256 23906256 + Missense_Mutation SNP C C G TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr13:23906256C>G uc001uon.2 - 10 12348 c.11759G>C c.(11758-11760)AGC>ACC p.S3920T SACS_uc001uoo.2_Missense_Mutation_p.S3773T|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 3920 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) CACTAAGATGCTTGACTTTAC 0.438 NaN 0 0 0 0.004482 0 9 147 SOHLH2 54937 broad.mit.edu 37 13 36744906 36744906 + Nonsense_Mutation SNP G G C TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr13:36744906G>C uc001uvj.2 - 10 1108 c.1019C>G c.(1018-1020)TCA>TGA p.S340* SOHLH2_uc010tei.1_Nonsense_Mutation_p.S417* NM_017826 NP_060296 Q9NX45 SOLH2_HUMAN spermatogenesis and oogenesis specific basic 340 cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus DNA binding 0 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273) AGCATTCTCTGAGGCGGAGCT 0.398 NaN 0 0 0 0.001168 0 5 95 NEK5 341676 broad.mit.edu 37 13 52661488 52661488 + Missense_Mutation SNP C C T TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr13:52661488C>T uc001vge.2 - 15 1518 c.1378G>A c.(1378-1380)GAA>AAA p.E460K NM_199289 NP_954983 Q6P3R8 NEK5_HUMAN NIMA-related kinase 5 460 ATP binding|metal ion binding|protein serine/threonine kinase activity upper_aerodigestive_tract(1) 1 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) TCCTTCATTTCGTTTTTCCTA 0.393 NaN 0 0 0 0.00278 0 21 74 TBC1D4 9882 broad.mit.edu 37 13 75936294 75936294 + Silent SNP G G A TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr13:75936294G>A uc001vjl.1 - 2 1295 c.948C>T c.(946-948)TGC>TGT p.C316C TBC1D4_uc010aer.2_Silent_p.C316C|TBC1D4_uc010aes.2_Silent_p.C316C NM_014832 NP_055647 O60343 TBCD4_HUMAN TBC1 domain family, member 4 316 PID 2. cytoplasm Rab GTPase activator activity ovary(4)|central_nervous_system(1)|skin(1) 6 Prostate(6;0.014)|Breast(118;0.0982) GBM - Glioblastoma multiforme(99;0.0116) TGACACTGCTGCACCGAGACC 0.637 NaN 0 0 0 0.001168 0 5 46 OR6S1 341799 broad.mit.edu 37 14 21109226 21109226 + Missense_Mutation SNP C C G rs150042729 TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr14:21109226C>G uc001vxv.1 - 1 625 c.625G>C c.(625-627)GTC>CTC p.V209L NM_001001968 NP_001001968 Q8NH40 OR6S1_HUMAN olfactory receptor, family 6, subfamily S, 209 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(95;0.00304) Epithelial(56;1.23e-06)|all cancers(55;1.01e-05) GBM - Glioblastoma multiforme(265;0.0135) GATACAATGACGAGGGAGGCC 0.572 NaN 0 0 0 0.000602 0 5 98 EAPP 55837 broad.mit.edu 37 14 34985629 34985629 + Missense_Mutation SNP C C G TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr14:34985629C>G uc001wsd.1 - 6 854 c.745G>C c.(745-747)GAT>CAT p.D249H NM_018453 NP_060923 Q56P03 EAPP_HUMAN E2F-associated phosphoprotein 249 negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter Golgi apparatus|nucleus|plasma membrane ovary(1) 1 Breast(36;0.0473)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18) GBM - Glioblastoma multiforme(112;0.0196) TCTTCCACATCTGTCTCTGCC 0.448 NaN 0 0 0 0.008291 0 9 195 EAPP 55837 broad.mit.edu 37 14 34985718 34985718 + Missense_Mutation SNP C C G TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr14:34985718C>G uc001wsd.1 - 6 765 c.656G>C c.(655-657)AGA>ACA p.R219T NM_018453 NP_060923 Q56P03 EAPP_HUMAN E2F-associated phosphoprotein 219 negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter Golgi apparatus|nucleus|plasma membrane ovary(1) 1 Breast(36;0.0473)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18) GBM - Glioblastoma multiforme(112;0.0196) GGCTTTATATCTTAGAACCTC 0.388 NaN 0 0 0 0.004482 0 9 143 PYGO1 26108 broad.mit.edu 37 15 55841124 55841124 + Missense_Mutation SNP C C T TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr15:55841124C>T uc010bfl.1 - 2 175 c.119G>A c.(118-120)CGC>CAC p.R40H PYGO1_uc002adf.1_Missense_Mutation_p.R40H NM_015617 NP_056432 Q9Y3Y4 PYGO1_HUMAN pygopus homolog 1 40 Nuclear localization signal (Potential). Wnt receptor signaling pathway nucleus zinc ion binding p.R40C(1) ovary(1)|skin(1) 2 all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18) ATTTGCCTTGCGCTTTTTCTT 0.368 NaN 0 0 0 0.001168 0 4 51 GOLGA6A 342096 broad.mit.edu 37 15 74365122 74365122 + Missense_Mutation SNP G G T TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr15:74365122G>T uc002axa.1 - 13 1503 c.1462C>A c.(1462-1464)CTA>ATA p.L488I NM_001038640 NP_001033729 Q9NYA3 GOG6A_HUMAN golgi autoantigen, golgin subfamily a, 6 488 Potential. 0 TGGGTCTCTAGCTGTTGGTTC 0.612 NaN 1 0 7.48243e-07 0.006214 8.40132e-07 7 55 ST8SIA2 8128 broad.mit.edu 37 15 92977602 92977602 + Missense_Mutation SNP T T A TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr15:92977602T>A uc002bra.2 + 3 442 c.287T>A c.(286-288)ATC>AAC p.I96N ST8SIA2_uc002brb.2_Missense_Mutation_p.I75N NM_006011 NP_006002 Q92186 SIA8B_HUMAN ST8 alpha-N-acetyl-neuraminide 96 Lumenal (Potential). axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity 0 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203) TCTCTGAGGATCAGGTACTGG 0.453 NaN 0 0 0 0.008871 0 18 55 ZNF598 90850 broad.mit.edu 37 16 2052220 2052220 + Silent SNP C C T TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr16:2052220C>T uc002cof.1 - 7 897 c.882G>A c.(880-882)TCG>TCA p.S294S ZNF598_uc002coe.1_5'UTR NM_178167 NP_835461 Q86UK7 ZN598_HUMAN zinc finger protein 598 294 intracellular zinc ion binding lung(1)|breast(1) 2 CGTTCCGGCGCGAGTGCCGTG 0.692 NaN 0 0 0 0.009096 0 4 15 KIAA0556 23247 broad.mit.edu 37 16 27761348 27761348 + Missense_Mutation SNP G G C TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr16:27761348G>C uc002dow.2 + 16 3091 c.3067G>C c.(3067-3069)GCC>CCC p.A1023P NM_015202 NP_056017 O60303 K0556_HUMAN hypothetical protein LOC23247 1023 ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1) 8 TATTTTACCAGCCTATGGGAA 0.532 NaN 0 0 0 0.009096 0 4 43 SPNS1 83985 broad.mit.edu 37 16 28993242 28993242 + Missense_Mutation SNP C C T TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr16:28993242C>T uc010vdi.1 + 8 970 c.830C>T c.(829-831)TCC>TTC p.S277F uc010vct.1_Intron|SPNS1_uc002drx.2_Missense_Mutation_p.S204F|SPNS1_uc002dsa.2_Missense_Mutation_p.S277F|SPNS1_uc002drz.2_Intron|SPNS1_uc010byp.2_Intron|SPNS1_uc010byq.1_Missense_Mutation_p.S209F|LAT_uc010vdj.1_5'Flank NM_001142448 NP_001135920 Q9H2V7 SPNS1_HUMAN spinster homolog 1 isoform 1 277 lipid transport|transmembrane transport integral to membrane|mitochondrial inner membrane protein binding 0 GTCCTGTCTTCCCTGGGCTTC 0.632 NaN OREG0023712 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.000602 0 5 77 CDH11 1009 broad.mit.edu 37 16 65016031 65016031 + Missense_Mutation SNP T T G TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr16:65016031T>G uc002eoi.2 - 8 1607 c.1173A>C c.(1171-1173)GAA>GAC p.E391D CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Missense_Mutation_p.E391D|CDH11_uc010vin.1_Missense_Mutation_p.E265D|CDH11_uc002eok.1_RNA NM_001797 NP_001788 P55287 CAD11_HUMAN cadherin 11, type 2 preproprotein 391 Cadherin 4.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding lung(10)|ovary(3)|skin(1) 14 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) TTTCTTGGACTTCGTGGATGT 0.498 NaN T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 0 0 0 0.001984 0 6 90 DHX33 56919 broad.mit.edu 37 17 5365692 5365692 + Missense_Mutation SNP C C G TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr17:5365692C>G uc002gca.2 - 3 627 c.625G>C c.(625-627)GTG>CTG p.V209L DHX33_uc002gbz.2_5'Flank|DHX33_uc002gcb.2_Missense_Mutation_p.V36L|DHX33_uc010clf.2_Intron NM_020162 NP_064547 Q9H6R0 DHX33_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 33 209 Helicase ATP-binding. nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(1)|pancreas(1) 2 GCTTTCACCACTCCAAAGAGC 0.463 NaN 0 0 0 0.009096 0 4 56 NEURL4 84461 broad.mit.edu 37 17 7226379 7226379 + Silent SNP C C A TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr17:7226379C>A uc002gga.1 - 15 2488 c.2481G>T c.(2479-2481)GCG>GCT p.A827A NEURL4_uc002ggb.1_Silent_p.A827A|NEURL4_uc002ggc.1_Silent_p.A173A NM_032442 NP_115818 Q96JN8 NEUL4_HUMAN neuralized homolog 4 isoform 1 827 NHR 4. protein binding upper_aerodigestive_tract(1)|ovary(1) 2 CTGTGCCCAGCGCATCCAGGT 0.602 NaN 1 0 8.12818e-05 0.001984 8.81701e-05 7 39 ATP6V0A1 535 broad.mit.edu 37 17 40642597 40642597 + Nonsense_Mutation SNP T T G TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr17:40642597T>G uc002hzr.2 + 11 1283 c.1116T>G c.(1114-1116)TAT>TAG p.Y372* ATP6V0A1_uc002hzq.2_Nonsense_Mutation_p.Y372*|ATP6V0A1_uc002hzs.2_Nonsense_Mutation_p.Y379*|ATP6V0A1_uc010wgj.1_Nonsense_Mutation_p.Y329*|ATP6V0A1_uc010wgk.1_Nonsense_Mutation_p.Y329*|ATP6V0A1_uc010cyg.2_Nonsense_Mutation_p.Y18*|ATP6V0A1_uc010wgl.1_Nonsense_Mutation_p.Y231* NM_001130021 NP_001123493 Q93050 VPP1_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a1 372 Cytoplasmic (Potential). ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity pancreas(1) 1 all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254) BRCA - Breast invasive adenocarcinoma(366;0.137) AGTTTACCTATGGCTTTCAGA 0.373 NaN 0 0 0 0.001855 0 13 122 ATP6V0A1 535 broad.mit.edu 37 17 40652912 40652912 + Missense_Mutation SNP T T C TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr17:40652912T>C uc002hzr.2 + 16 2034 c.1867T>C c.(1867-1869)TCT>CCT p.S623P ATP6V0A1_uc002hzq.2_Missense_Mutation_p.S623P|ATP6V0A1_uc002hzs.2_Missense_Mutation_p.S630P|ATP6V0A1_uc010wgj.1_Missense_Mutation_p.S580P|ATP6V0A1_uc010wgk.1_Missense_Mutation_p.S580P|ATP6V0A1_uc010cyg.2_Missense_Mutation_p.S269P|ATP6V0A1_uc010wgl.1_Missense_Mutation_p.S482P NM_001130021 NP_001123493 Q93050 VPP1_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a1 623 Helical; (Potential). ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity pancreas(1) 1 all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254) BRCA - Breast invasive adenocarcinoma(366;0.137) CTACCCAGAGTCTGGTTATTC 0.438 NaN 0 0 0 0.00308 0 7 134 BRCA1 672 broad.mit.edu 37 17 41244840 41244840 + Missense_Mutation SNP C C G rs80357717 TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr17:41244840C>G uc002icq.2 - 10 2940 c.2708G>C c.(2707-2709)TGT>TCT p.C903S BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.C832S|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.C856S|BRCA1_uc002ict.2_Missense_Mutation_p.C903S|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.C903S|BRCA1_uc002ide.1_Missense_Mutation_p.C734S|BRCA1_uc010cyy.1_Missense_Mutation_p.C903S|BRCA1_uc010whs.1_Missense_Mutation_p.C903S|BRCA1_uc010cyz.2_Missense_Mutation_p.C856S|BRCA1_uc010cza.2_Missense_Mutation_p.C877S|BRCA1_uc010wht.1_Missense_Mutation_p.C607S NM_007294 NP_009225 P38398 BRCA1_HUMAN breast cancer 1, early onset isoform 1 903 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1) 52 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) CTTTTGTTCACATTCAAAAGT 0.403 NaN D|Mis|N|F|S ovarian breast|ovarian Homologous_recombination Hereditary_Breast-Ovarian_Cancer_BRCA1_type TCGA Ovarian(2;0.000030) 0 0 0 0.010729 0 12 96 COIL 8161 broad.mit.edu 37 17 55027860 55027860 + Missense_Mutation SNP G G A TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr17:55027860G>A uc002iuu.2 - 2 774 c.743C>T c.(742-744)TCG>TTG p.S248L NM_004645 NP_004636 P38432 COIL_HUMAN coilin 248 2 X 4 AA repeats of A-R-N-S.|Ser/Thr-rich. Cajal body|nucleolus protein C-terminus binding ovary(1) 1 Breast(9;6.15e-08) TTCAGACTCCGAGGAGGAACT 0.428 NaN 0 0 0 0.00308 0 8 124 THOC1 9984 broad.mit.edu 37 18 252549 252549 + Missense_Mutation SNP G G C TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr18:252549G>C uc002kkj.3 - 9 707 c.667C>G c.(667-669)CCA>GCA p.P223A THOC1_uc002kkk.3_RNA|THOC1_uc002kkl.2_Missense_Mutation_p.P223A NM_005131 NP_005122 Q96FV9 THOC1_HUMAN THO complex 1 223 apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex DNA binding|protein binding|RNA binding ovary(1) 1 all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412) CACGTTGTTGGAGCTTCCTCG 0.398 NaN 0 0 0 0.003163 0 12 100 PIK3C3 5289 broad.mit.edu 37 18 39584404 39584404 + Missense_Mutation SNP C C T TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr18:39584404C>T uc002lap.2 + 10 1127 c.1069C>T c.(1069-1071)CCG>TCG p.P357S PIK3C3_uc010xcl.1_Missense_Mutation_p.P294S NM_002647 NP_002638 Q8NEB9 PK3C3_HUMAN catalytic phosphatidylinositol 3-kinase 3 357 cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway midbody|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding lung(8)|ovary(1)|breast(1) 10 AAAATGGAAGCCGATGGATGT 0.463 NaN TSP Lung(28;0.18) 0 0 0 0.009096 0 3 42 MUC16 94025 broad.mit.edu 37 19 9085813 9085813 + Nonsense_Mutation SNP G G C TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr19:9085813G>C uc002mkp.2 - 1 6206 c.6002C>G c.(6001-6003)TCA>TGA p.S2001* NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 2001 Ser-rich.|Thr-rich.|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 ATATGGAGTTGACTGTGTCTG 0.468 NaN 0 0 0 0.004482 0 9 70 ZNF99 7652 broad.mit.edu 37 19 22941848 22941848 + Missense_Mutation SNP T T G TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr19:22941848T>G uc010xrh.1 - 5 590 c.590A>C c.(589-591)GAA>GCA p.E197A NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) GCCACATTCTTCACATTTATA 0.363 NaN 0 0 0 0.000602 0 5 50 MAP4K1 11184 broad.mit.edu 37 19 39086328 39086328 + Nonsense_Mutation SNP C C A TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr19:39086328C>A uc002oix.1 - 28 2329 c.2221G>T c.(2221-2223)GGA>TGA p.G741* MAP4K1_uc002oiw.1_Nonsense_Mutation_p.G328*|MAP4K1_uc002oiy.1_Nonsense_Mutation_p.G741* NM_007181 NP_009112 Q92918 M4K1_HUMAN mitogen-activated protein kinase kinase kinase 741 CNH. activation of JUN kinase activity|peptidyl-serine phosphorylation ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity skin(4)|lung(3)|ovary(1) 8 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) GTGCGAAGTCCCCGGACTGGG 0.592 NaN 1 0 1.08611e-07 0.010729 1.24127e-07 11 52 FBXO27 126433 broad.mit.edu 37 19 39516069 39516069 + Silent SNP C C G TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr19:39516069C>G uc002okh.2 - 6 916 c.834G>C c.(832-834)GTG>GTC p.V278V NM_178820 NP_849142 Q8NI29 FBX27_HUMAN F-box protein 27 278 FBA. protein catabolic process SCF ubiquitin ligase complex glycoprotein binding ovary(1) 1 all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) GACGGACTCGCACGATCACAC 0.587 NaN 0 0 0 0.001168 0 6 113 SAMD4B 55095 broad.mit.edu 37 19 39866391 39866391 + Missense_Mutation SNP G G C TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr19:39866391G>C uc002olb.2 + 7 1804 c.769G>C c.(769-771)GGG>CGG p.G257R SAMD4B_uc002ola.2_Missense_Mutation_p.G257R NM_018028 NP_060498 Q5PRF9 SMAG2_HUMAN sterile alpha motif domain containing 4B 257 protein binding 0 all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) AGAGGAGCTTGGGGCCCGGGC 0.647 NaN 0 0 0 0.010818 0 30 151 PPFIA3 8541 broad.mit.edu 37 19 49641521 49641521 + Missense_Mutation SNP T T G TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr19:49641521T>G uc002pmr.2 + 16 2245 c.1913T>G c.(1912-1914)GTG>GGG p.V638G PPFIA3_uc010yai.1_Intron|PPFIA3_uc010yaj.1_Intron|PPFIA3_uc002pms.2_Missense_Mutation_p.V506G NM_003660 NP_003651 O75145 LIPA3_HUMAN PTPRF interacting protein alpha 3 638 Potential. cell surface|cytoplasm protein binding lung(1) 1 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) GAGAGTCGGGTGTCCAGCTCT 0.647 NaN 0 0 0 0.00308 0 4 22 RHOB 388 broad.mit.edu 37 2 20647511 20647511 + Silent SNP C C T TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr2:20647511C>T uc002rdv.2 + 1 677 c.285C>T c.(283-285)ATC>ATT p.I95I NM_004040 NP_004031 P62745 RHOB_HUMAN ras homolog gene family, member B precursor 95 angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis cytosol|late endosome membrane|nucleus|plasma membrane GTP binding|GTPase activity|protein binding ovary(1)|lung(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164) OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19) TGGAGAACATCCCCGAGAAGT 0.617 NaN 0 0 0 0.011902 0 43 91 NRXN1 9378 broad.mit.edu 37 2 50724504 50724504 + Missense_Mutation SNP C C G TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr2:50724504C>G uc010fbq.2 - 14 4443 c.2966G>C c.(2965-2967)GGA>GCA p.G989A NRXN1_uc002rxb.3_Missense_Mutation_p.G621A|NRXN1_uc002rxe.3_Missense_Mutation_p.G949A|NRXN1_uc002rxc.1_RNA NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor 138 Extracellular (Potential).|Laminin G-like. angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) AAAGTCATTTCCATCCCCACT 0.353 NaN 0 0 0 0.000602 0 5 63 TMEM131 23505 broad.mit.edu 37 2 98504542 98504542 + Missense_Mutation SNP T T C TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr2:98504542T>C uc002syh.3 - 4 561 c.332A>G c.(331-333)GAG>GGG p.E111G TMEM131_uc010yvg.1_RNA NM_015348 NP_056163 Q92545 TM131_HUMAN RW1 protein 111 integral to membrane ovary(4)|central_nervous_system(2) 6 CATTGGTGGCTCAAATCGTAT 0.333 NaN 0 0 0 0.004672 0 3 32 RAPGEF4 11069 broad.mit.edu 37 2 173825863 173825863 + Missense_Mutation SNP A A G TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr2:173825863A>G uc002uhv.3 + 8 792 c.605A>G c.(604-606)AAG>AGG p.K202R RAPGEF4_uc002uhu.2_Missense_Mutation_p.K202R|RAPGEF4_uc002uhw.3_Missense_Mutation_p.K58R|RAPGEF4_uc010zec.1_Missense_Mutation_p.K49R|RAPGEF4_uc010zed.1_Missense_Mutation_p.K31R|RAPGEF4_uc010zee.1_Missense_Mutation_p.K49R|RAPGEF4_uc010fqo.2_Missense_Mutation_p.K31R|RAPGEF4_uc010zef.1_5'UTR|RAPGEF4_uc010zeg.1_Missense_Mutation_p.K29R|RAPGEF4_uc010fqp.1_5'UTR|RAPGEF4_uc010zeh.1_5'UTR NM_007023 NP_008954 Q8WZA2 RPGF4_HUMAN Rap guanine nucleotide exchange factor (GEF) 4 202 blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex|membrane fraction|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.194) CCTTCAGAGAAGATCCTCAGA 0.413 NaN 0 0 0 0.00308 0 8 80 FKBP7 51661 broad.mit.edu 37 2 179343067 179343067 + Missense_Mutation SNP C C T TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr2:179343067C>T uc002umk.2 - 1 289 c.160G>A c.(160-162)GAC>AAC p.D54N FKBP7_uc002umm.2_Missense_Mutation_p.D54N|FKBP7_uc002uml.2_RNA|FKBP7_uc010zff.1_Missense_Mutation_p.D50N|PLEKHA3_uc002umn.2_5'Flank NM_181342 NP_851939 Q9Y680 FKBP7_HUMAN FK506 binding protein 7 isoform a precursor 54 PPIase FKBP-type. protein folding endoplasmic reticulum lumen|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564) TTTAGTAGGTCTCCCTTCTTG 0.473 NaN 0 0 0 0.006214 0 8 78 TTN 7273 broad.mit.edu 37 2 179462331 179462331 + Missense_Mutation SNP C C T TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr2:179462331C>T uc010zfg.1 - 243 49998 c.49774G>A c.(49774-49776)GTC>ATC p.V16592I uc002umo.2_RNA|uc002ump.1_RNA|TTN_uc010zfh.1_Missense_Mutation_p.V10287I|TTN_uc010zfi.1_Missense_Mutation_p.V10220I|TTN_uc010zfj.1_Missense_Mutation_p.V10095I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 17519 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) AGAGAATAGACGCCTTGATGG 0.398 NaN 0 0 0 0.004672 0 3 39 ITGA4 3676 broad.mit.edu 37 2 182387015 182387015 + Missense_Mutation SNP A A G TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr2:182387015A>G uc002unu.2 + 18 2783 c.2020A>G c.(2020-2022)ACT>GCT p.T674A ITGA4_uc010frj.1_Missense_Mutation_p.T156A|ITGA4_uc002unv.2_5'UTR NM_000885 NP_000876 P13612 ITA4_HUMAN integrin alpha 4 precursor 674 Extracellular (Potential). blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) ATATGAAACGACTCTACATGT 0.363 NaN 0 0 0 0.009096 0 4 83 DNAJB2 3300 broad.mit.edu 37 2 220147644 220147644 + Silent SNP G G A TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr2:220147644G>A uc002vkx.1 + 6 675 c.438G>A c.(436-438)GGG>GGA p.G146G DNAJB2_uc002vkw.1_Silent_p.G146G|DNAJB2_uc002vky.2_5'UTR|DNAJB2_uc010zlb.1_5'UTR NM_006736 NP_006727 P25686 DNJB2_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 2 146 ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein inclusion body heat shock protein binding|Hsp70 protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding 0 Renal(207;0.0474) Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCTTCCCTGGGCACTCCGGTA 0.562 NaN 0 0 0 0.009096 0 4 45 HTR2B 3357 broad.mit.edu 37 2 231978470 231978470 + Missense_Mutation SNP T T G TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr2:231978470T>G uc002vro.2 - 3 1031 c.526A>C c.(526-528)ATT>CTT p.I176L PSMD1_uc002vrm.1_Intron|PSMD1_uc010fxu.1_Intron|PSMD1_uc002vrn.1_Intron|HTR2B_uc010fxv.2_Intron NM_000867 NP_000858 P41595 5HT2B_HUMAN 5-hydroxytryptamine (serotonin) receptor 2B 176 Helical; Name=4; (By similarity). activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction cytoplasm|integral to membrane|plasma membrane calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity 0 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232) Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141) Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508) ACCACTGTAATCTTGATGAAT 0.428 NaN 0 0 0 0.004007 0 14 202 ARL4C 10123 broad.mit.edu 37 2 235405159 235405159 + Silent SNP G G A TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr2:235405159G>A uc002vvn.2 - 1 535 c.72C>T c.(70-72)GCC>GCT p.A24A ARL4C_uc002vvm.3_Silent_p.A24A NM_005737 NP_005728 P56559 ARL4C_HUMAN ADP-ribosylation factor-like 4C 24 GTP (By similarity). endocytic recycling|small GTPase mediated signal transduction cytoplasm|filopodium|nucleus|plasma membrane alpha-tubulin binding|GTP binding|GTPase activity skin(1) 1 Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173) Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048) TGGTCTTGCCGGCCGAGTCCA 0.597 NaN 0 0 0 0.004672 0 3 34 BACH1 571 broad.mit.edu 37 21 30699117 30699117 + Silent SNP T T G TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr21:30699117T>G uc002ynj.2 + 3 1087 c.972T>G c.(970-972)TCT>TCG p.S324S BACH1_uc002ynk.2_Silent_p.S324S|BACH1_uc002ynl.2_RNA NM_001186 NP_001177 O14867 BACH1_HUMAN BTB and CNC homology 1 transcription factor 324 nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|liver(1) 2 ATTCTTTGTCTCTTTTACACA 0.413 NaN 0 0 0 0.008291 0 10 266 KRTAP24-1 643803 broad.mit.edu 37 21 31655055 31655055 + Missense_Mutation SNP C C T TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr21:31655055C>T uc002ynv.2 - 1 222 c.196G>A c.(196-198)GGT>AGT p.G66S NM_001085455 NP_001078924 Q3LI83 KR241_HUMAN keratin associated protein 24-1 66 keratin filament structural molecule activity 0 GGTGCTTCACCGTAGGATTCT 0.522 NaN 0 0 0 0.001168 0 6 84 DRG1 4733 broad.mit.edu 37 22 31816285 31816285 + Silent SNP G G A TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr22:31816285G>A uc003aku.2 + 5 587 c.456G>A c.(454-456)CTG>CTA p.L152L NM_004147 NP_004138 Q9Y295 DRG1_HUMAN developmentally regulated GTP binding protein 1 152 G. multicellular organismal development|transcription, DNA-dependent cytoplasm|intermediate filament cytoskeleton|nucleus GTP binding|transcription factor binding central_nervous_system(1) 1 TGGATGTCCTGAAACCTTTGG 0.408 NaN 0 0 0 0.00308 0 8 107 SGOL1 151648 broad.mit.edu 37 3 20225210 20225210 + Missense_Mutation SNP C C G TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr3:20225210C>G uc003cbs.2 - 3 416 c.229G>C c.(229-231)GAA>CAA p.E77Q SGOL1_uc003cbr.2_Missense_Mutation_p.E77Q|SGOL1_uc010hfa.2_Missense_Mutation_p.E77Q|SGOL1_uc003cbt.2_Missense_Mutation_p.E77Q|SGOL1_uc003cbu.2_Missense_Mutation_p.E77Q|SGOL1_uc003cbv.2_Missense_Mutation_p.E77Q|SGOL1_uc003cbw.2_Missense_Mutation_p.E77Q|SGOL1_uc003cbx.2_Missense_Mutation_p.E77Q|SGOL1_uc003cby.2_Missense_Mutation_p.E77Q|SGOL1_uc003cbz.2_Missense_Mutation_p.E77Q|SGOL1_uc003cca.2_Missense_Mutation_p.E77Q|SGOL1_uc003ccb.2_Missense_Mutation_p.E77Q|SGOL1_uc003ccc.2_Missense_Mutation_p.E77Q NM_001012410 NP_001012410 Q5FBB7 SGOL1_HUMAN shugoshin-like 1 isoform A2 77 Potential.|Necessary for interaction with PPP2CA and PPP2R1A. attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole protein binding 0 TCTTGGGCTTCTTTCACTTTG 0.338 NaN 0 0 0 0.001855 0 14 105 SCN11A 11280 broad.mit.edu 37 3 38945514 38945514 + Missense_Mutation SNP G G T TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr3:38945514G>T uc011ays.1 - 12 1883 c.1684C>A c.(1684-1686)CAG>AAG p.Q562K NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha 562 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1) 9 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CACAGCCACTGGGGGCAACAG 0.502 NaN 1 0 0.00024832 0.009096 0.000264875 4 72 NKTR 4820 broad.mit.edu 37 3 42680096 42680096 + Missense_Mutation SNP C C T TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr3:42680096C>T uc003clo.2 + 13 3047 c.2900C>T c.(2899-2901)TCG>TTG p.S967L NKTR_uc003clm.1_Missense_Mutation_p.S714L|NKTR_uc003clp.2_Missense_Mutation_p.S714L|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.S857L|NKTR_uc003clr.1_Missense_Mutation_p.S714L|NKTR_uc003cls.2_Missense_Mutation_p.S667L NM_005385 NP_005376 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 967 protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity ovary(2)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(284;0.24) TGTTCCAATTCGGAAAACAAT 0.408 NaN 0 0 0 0.000602 0 5 70 ROBO1 6091 broad.mit.edu 37 3 78685192 78685192 + Nonsense_Mutation SNP G G C TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr3:78685192G>C uc003dqe.2 - 23 3312 c.3104C>G c.(3103-3105)TCA>TGA p.S1035* ROBO1_uc003dqb.2_Nonsense_Mutation_p.S996*|ROBO1_uc003dqc.2_Intron|ROBO1_uc003dqd.2_Nonsense_Mutation_p.S990*|ROBO1_uc010hoh.2_Nonsense_Mutation_p.S227*|ROBO1_uc011bgl.1_Nonsense_Mutation_p.S607* NM_002941 NP_002932 Q9Y6N7 ROBO1_HUMAN roundabout 1 isoform a 1035 Cytoplasmic (Potential). activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding large_intestine(2) 2 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) ATAAACAGTTGACTCAGGGAG 0.378 NaN 0 0 0 0.009096 0 4 41 IMPG2 50939 broad.mit.edu 37 3 100948226 100948226 + Missense_Mutation SNP C C G TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr3:100948226C>G uc003duq.1 - 17 3834 c.3631G>C c.(3631-3633)GAG>CAG p.E1211Q IMPG2_uc011bhe.1_Missense_Mutation_p.E1074Q|IMPG2_uc010hpj.1_RNA NM_016247 NP_057331 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 1211 Cytoplasmic (Potential).|Hyaluronan-binding motif involved in chondroitin sulfate A- and C-binding motif (By similarity). visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 TTTCCCACCTCTCTGGAAAGC 0.532 NaN 0 0 0 0.004482 0 7 38 FBXO40 51725 broad.mit.edu 37 3 121341105 121341105 + Missense_Mutation SNP G G A TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr3:121341105G>A uc003eeg.2 + 3 1039 c.829G>A c.(829-831)GAC>AAC p.D277N NM_016298 NP_057382 Q9UH90 FBX40_HUMAN F-box protein 40 277 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 GBM - Glioblastoma multiforme(114;0.189) GAAGCAGCAGGACGTTCGTAC 0.483 NaN 0 0 0 0.001984 0 6 42 TRIM42 287015 broad.mit.edu 37 3 140397214 140397214 + Missense_Mutation SNP G G A TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr3:140397214G>A uc003eto.1 + 1 334 c.143G>A c.(142-144)CGG>CAG p.R48Q NM_152616 NP_689829 Q8IWZ5 TRI42_HUMAN tripartite motif-containing 42 48 Cys-rich. intracellular zinc ion binding lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1) 7 AAAGATGAGCGGAACTGCCAG 0.537 NaN 0 0 0 0.008291 0 10 158 SMC4 10051 broad.mit.edu 37 3 160146645 160146645 + Missense_Mutation SNP G G C TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr3:160146645G>C uc003fdh.2 + 18 2823 c.2710G>C c.(2710-2712)GAC>CAC p.D904H IFT80_uc003fda.2_Intron|SMC4_uc003fdi.2_Missense_Mutation_p.D879H|SMC4_uc003fdj.2_Missense_Mutation_p.D904H|SMC4_uc010hwd.2_Missense_Mutation_p.D904H|SMC4_uc003fdl.2_Missense_Mutation_p.D607H NM_001002800 NP_001002800 Q9NTJ3 SMC4_HUMAN SMC4 structural maintenance of chromosomes 904 Potential. cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity ovary(1)|breast(1) 2 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) GGCCCAACAAGACAAACTTGA 0.378 NaN 0 0 0 0.001984 0 6 90 C4orf35 85438 broad.mit.edu 37 4 71200994 71200994 + Missense_Mutation SNP G G C TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr4:71200994G>C uc003hff.2 + 1 324 c.238G>C c.(238-240)GAT>CAT p.D80H NM_033122 NP_149113 Q96KC9 CABS1_HUMAN testis development protein NYD-SP26 80 flagellum calcium ion binding 0 all_hematologic(202;0.196) ATCAGAAGATGATATGGGGAC 0.373 NaN 0 0 0 0.000602 0 5 71 MMRN1 22915 broad.mit.edu 37 4 90872768 90872768 + Missense_Mutation SNP G G T TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr4:90872768G>T uc003hst.2 + 7 3202 c.3131G>T c.(3130-3132)AGC>ATC p.S1044I MMRN1_uc010iku.2_Missense_Mutation_p.S347I|MMRN1_uc011cds.1_Missense_Mutation_p.S786I NM_007351 NP_031377 Q13201 MMRN1_HUMAN multimerin 1 1044 EGF-like. cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen ovary(4) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) GAGTATTCAAGCTGTAGTCGG 0.383 NaN 1 0 3.59834e-05 0.001168 3.93664e-05 5 53 KIAA1109 84162 broad.mit.edu 37 4 123160717 123160717 + Missense_Mutation SNP C C G TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr4:123160717C>G uc003ieh.2 + 27 3925 c.3880C>G c.(3880-3882)CAG>GAG p.Q1294E KIAA1109_uc003iei.1_Missense_Mutation_p.Q1047E|KIAA1109_uc010ins.1_Missense_Mutation_p.Q637E|KIAA1109_uc003iek.2_5'UTR NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 1294 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 TCCTAATACTCAGGATAAGTC 0.403 NaN 0 0 0 0.00278 0 22 40 SEMA5A 9037 broad.mit.edu 37 5 9122934 9122934 + Missense_Mutation SNP C C T TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr5:9122934C>T uc003jek.2 - 14 2327 c.1615G>A c.(1615-1617)GTG>ATG p.V539M NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 539 Extracellular (Potential). cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 TGCCCATCCACGGTGAGATTC 0.517 NaN 0 0 0 0.01441 0 66 59 DNAH5 1767 broad.mit.edu 37 5 13753535 13753535 + Missense_Mutation SNP T T A TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr5:13753535T>A uc003jfd.2 - 63 10721 c.10679A>T c.(10678-10680)AAC>ATC p.N3560I DNAH5_uc003jfc.2_5'UTR NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3560 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) GAGATTTAGGTTCTTTCCAAA 0.378 NaN Kartagener_syndrome 0 0 0 0.006214 0 10 241 DNAH5 1767 broad.mit.edu 37 5 13823473 13823473 + Missense_Mutation SNP C C T TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr5:13823473C>T uc003jfd.2 - 40 6628 c.6586G>A c.(6586-6588)GAG>AAG p.E2196K NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2196 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) GGTTCATCCTCATCAATCTAA 0.368 NaN Kartagener_syndrome 0 0 0 0.008291 0 11 156 CHSY3 337876 broad.mit.edu 37 5 129520760 129520760 + Missense_Mutation SNP A A G TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr5:129520760A>G uc003kvd.2 + 3 1925 c.1925A>G c.(1924-1926)GAA>GGA p.E642G NM_175856 NP_787052 Q70JA7 CHSS3_HUMAN chondroitin sulfate synthase 3 642 Lumenal (Potential). Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity ovary(2)|pancreas(1) 3 all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.136) GAGAACTTTGAAAACATGTGT 0.403 NaN 0 0 0 0.001168 0 4 69 REEP2 51308 broad.mit.edu 37 5 137780945 137780945 + Missense_Mutation SNP G G A TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr5:137780945G>A uc003lcz.2 + 6 562 c.440G>A c.(439-441)CGC>CAC p.R147H REEP2_uc003lda.2_Missense_Mutation_p.R149H|REEP2_uc011cyt.1_Missense_Mutation_p.R108H NM_016606 NP_057690 Q9BRK0 REEP2_HUMAN receptor accessory protein 2 147 integral to membrane 0 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) GAGAAGCTCCGCAGCTTCAGC 0.692 NaN 0 0 0 0.000602 0 5 56 PCDHGB2 56103 broad.mit.edu 37 5 140741601 140741601 + Silent SNP C C T TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr5:140741601C>T uc003ljs.1 + 1 1899 c.1899C>T c.(1897-1899)GGC>GGT p.G633G PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Silent_p.G633G|PCDHGA5_uc011das.1_5'Flank NM_018923 NP_061746 Q9Y5G2 PCDGE_HUMAN protocadherin gamma subfamily B, 2 isoform 1 633 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGCCTTGGGCGACAGGGACG 0.687 NaN 0 0 0 0.003163 0 10 16 FLT4 2324 broad.mit.edu 37 5 180057288 180057288 + Silent SNP C C T TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr5:180057288C>T uc003mma.3 - 4 529 c.450G>A c.(448-450)AGG>AGA p.R150R FLT4_uc003mlz.3_Silent_p.R150R|FLT4_uc003mmb.1_5'Flank|FLT4_uc011dgy.1_Silent_p.R150R|FLT4_uc011dgz.1_Silent_p.R150R|FLT4_uc011dha.1_Missense_Mutation_p.G134E NM_002020 NP_002011 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 isoform 2 150 Extracellular (Potential). positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1) 15 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) TGGCGTCCTTCCTGTTGACCA 0.632 NaN Congenital_Hereditary_Lymphedema 0 0 0 0.004007 0 14 30 TUBB 203068 broad.mit.edu 37 6 30691914 30691914 + Missense_Mutation SNP C C T TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr6:30691914C>T uc003nrl.2 + 4 1202 c.1075C>T c.(1075-1077)CGT>TGT p.R359C TUBB_uc003nrk.1_Missense_Mutation_p.R359C|TUBB_uc011dmq.1_Missense_Mutation_p.R287C NM_178014 NP_821133 P07437 TBB5_HUMAN tubulin, beta 359 cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization cytosol|microtubule GTP binding|GTPase activity|MHC class I protein binding ovary(1) 1 Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361) CATCCCACCTCGTGGCCTCAA 0.532 NaN 0 0 0 0.00333 0 20 67 ASCC3 10973 broad.mit.edu 37 6 100966000 100966000 + Missense_Mutation SNP C C T TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr6:100966000C>T uc003pqk.2 - 38 6123 c.5794G>A c.(5794-5796)GCA>ACA p.A1932T NM_006828 NP_006819 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 1932 SEC63 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(5)|skin(1) 6 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) CCCTGGTTTGCAGCCACGTCC 0.478 NaN 0 0 0 0.000602 0 4 43 SEC63 11231 broad.mit.edu 37 6 108193031 108193031 + Silent SNP C C T TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr6:108193031C>T uc003psc.3 - 21 2429 c.2160G>A c.(2158-2160)AAG>AAA p.K720K SEC63_uc003psb.3_Silent_p.K547K NM_007214 NP_009145 Q9UGP8 SEC63_HUMAN SEC63-like protein 720 Cytoplasmic (Potential). protein folding|protein targeting to membrane endoplasmic reticulum membrane|integral to membrane heat shock protein binding|receptor activity|unfolded protein binding ovary(1)|skin(1) 2 all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294) BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054) CTGGCACAGGCTTAGCCTCAT 0.418 NaN 0 0 0 0.004482 0 8 93 IYD 389434 broad.mit.edu 37 6 150713566 150713566 + Missense_Mutation SNP C C G TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr6:150713566C>G uc003qnu.1 + 3 596 c.456C>G c.(454-456)ATC>ATG p.I152M IYD_uc003qnv.1_Missense_Mutation_p.I152M|IYD_uc003qnw.1_RNA|IYD_uc003qnx.1_Missense_Mutation_p.I152M|IYD_uc010kik.1_Missense_Mutation_p.I70M NM_203395 NP_981932 Q6PHW0 IYD1_HUMAN iodotyrosine dehalogenase 1 isoform 2 152 Extracellular (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process integral to membrane|plasma membrane ovary(2) 2 Ovarian(120;0.028) BRCA - Breast invasive adenocarcinoma(37;0.215) OV - Ovarian serous cystadenocarcinoma(155;4.16e-12) TTCGAAAGATCATTGAGGAGG 0.522 NaN 0 0 0 0.00308 0 8 65 QKI 9444 broad.mit.edu 37 6 163984654 163984654 + Silent SNP C C T TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr6:163984654C>T uc003qui.2 + 6 1388 c.837C>T c.(835-837)CCC>CCT p.P279P QKI_uc003que.2_Silent_p.P279P|QKI_uc003quf.2_Silent_p.P279P|QKI_uc003qug.2_Silent_p.P279P|QKI_uc003quh.2_Silent_p.P271P|QKI_uc003quj.2_Silent_p.P271P NM_006775 NP_006766 Q96PU8 QKI_HUMAN quaking homolog, KH domain RNA binding isoform 279 SH3-binding. mRNA processing|mRNA transport|regulation of translation|RNA splicing cytoplasm|nucleus|plasma membrane RNA binding|SH3 domain binding large_intestine(1)|ovary(1) 2 Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203) all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234) CTCCAGGGCCCGAAGCTGGTT 0.478 NaN 0 0 0 0.00245 0 15 64 FAM126A 84668 broad.mit.edu 37 7 23016375 23016375 + Missense_Mutation SNP C C A TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr7:23016375C>A uc003svm.3 - 6 722 c.467G>T c.(466-468)GGT>GTT p.G156V FAM126A_uc003svn.3_Missense_Mutation_p.G12V|FAM126A_uc011jyr.1_Missense_Mutation_p.G122V NM_032581 NP_115970 Q9BYI3 HYCCI_HUMAN family with sequence similarity 126, member A 156 cytoplasm|membrane signal transducer activity central_nervous_system(1) 1 TTTTGACAAACCATGCTGGGA 0.418 NaN 1 0 2.0095e-06 0.001984 2.23666e-06 6 73 CPA2 1358 broad.mit.edu 37 7 129908841 129908841 + Silent SNP A A G TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr7:129908841A>G uc003vpq.2 + 2 163 c.144A>G c.(142-144)GAA>GAG p.E48E CPA2_uc011kpc.1_Silent_p.E48E NM_001869 NP_001860 P48052 CBPA2_HUMAN carboxypeptidase A2 (pancreatic) precursor 48 proteolysis|vacuolar protein catabolic process extracellular region|vacuole metallocarboxypeptidase activity|zinc ion binding ovary(1) 1 Melanoma(18;0.0435) AGGCTCAAGAACATCTCCAGG 0.373 NaN 0 0 0 0.009096 0 4 62 SGK223 157285 broad.mit.edu 37 8 8185379 8185379 + Silent SNP G G A TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr8:8185379G>A uc003wsh.3 - 4 2913 c.2913C>T c.(2911-2913)CTC>CTT p.L971L NM_001080826 NP_001074295 Q86YV5 SG223_HUMAN pragmin 971 ATP binding|non-membrane spanning protein tyrosine kinase activity 0 CGCCCATGAAGAGGTCCTCAC 0.562 NaN 0 0 0 0.00308 0 6 37 FBXO16 157574 broad.mit.edu 37 8 28304779 28304779 + Missense_Mutation SNP C C G rs149234031 byFrequency TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr8:28304779C>G uc003xgu.2 - 7 850 c.752G>C c.(751-753)AGA>ACA p.R251T ZNF395_uc003xgt.2_5'UTR|FBXO16_uc003xgv.2_Missense_Mutation_p.R238T|FBXO16_uc003xgw.2_Missense_Mutation_p.R238T NM_172366 NP_758954 Q8IX29 FBX16_HUMAN F-box only protein 16 251 ovary(1) 1 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249) CATTTGGTTTCTTTTTCTTCT 0.353 NaN 0 0 0 0.008361 0 29 79 ADHFE1 137872 broad.mit.edu 37 8 67357557 67357557 + Missense_Mutation SNP C C T TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr8:67357557C>T uc003xwb.3 + 6 492 c.458C>T c.(457-459)GCA>GTA p.A153V ADHFE1_uc003xwd.3_RNA|ADHFE1_uc003xwc.3_Missense_Mutation_p.A105V|ADHFE1_uc003xwe.3_RNA|ADHFE1_uc003xwf.3_Intron|ADHFE1_uc011les.1_Missense_Mutation_p.A83V|ADHFE1_uc011leq.1_Intron|ADHFE1_uc011ler.1_Intron NM_144650 NP_653251 Q8IWW8 HOT_HUMAN alcohol dehydrogenase, iron containing, 1 153 2-oxoglutarate metabolic process|molecular hydrogen transport mitochondrial matrix hydroxyacid-oxoacid transhydrogenase activity|metal ion binding ovary(1)|lung(1)|breast(1)|skin(1) 4 Lung NSC(129;0.197) Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226) AATCTGTATGCATCCAGCCCT 0.488 NaN 0 0 0 0.008291 0 10 142 VPS13B 157680 broad.mit.edu 37 8 100844794 100844794 + Missense_Mutation SNP C C G TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr8:100844794C>G uc003yiv.2 + 52 9714 c.9603C>G c.(9601-9603)AGC>AGG p.S3201R VPS13B_uc003yiw.2_Missense_Mutation_p.S3176R NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 3201 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) AGTGCTGGAGCCTGCCAGCTA 0.502 NaN 0 0 0 0.001168 0 5 94 LRRC6 23639 broad.mit.edu 37 8 133584686 133584686 + Missense_Mutation SNP G G T TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr8:133584686G>T uc003ytk.2 - 12 1343 c.1269C>A c.(1267-1269)CAC>CAA p.H423Q LRRC6_uc003ytl.2_RNA NM_012472 NP_036604 Q86X45 LRRC6_HUMAN leucine rich repeat containing 6 423 cytoplasm ovary(1)|kidney(1) 2 Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) CAGGGAATGAGTGCTTGCTAG 0.378 NaN 1 0 0.00307968 0.00308 0.00320487 8 208 ZFAT 57623 broad.mit.edu 37 8 135615035 135615035 + Silent SNP G G T TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr8:135615035G>T uc003yup.2 - 6 1102 c.927C>A c.(925-927)GCC>GCA p.A309A ZFAT_uc003yun.2_Silent_p.A297A|ZFAT_uc003yuo.2_Silent_p.A297A|ZFAT_uc010meh.2_Silent_p.A297A|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Silent_p.A297A|ZFAT_uc010mej.2_Silent_p.A247A|ZFAT_uc003yur.2_Silent_p.A297A NM_020863 NP_065914 Q9P243 ZFAT_HUMAN zinc finger protein 406 isoform ZFAT-1 309 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) TGGCCTTGATGGCACTGGCAT 0.562 NaN 1 0 0.000602214 0.000602 0.000631832 5 49 MPDZ 8777 broad.mit.edu 37 9 13162702 13162702 + Missense_Mutation SNP G G A TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr9:13162702G>A uc010mia.1 - 22 3404 c.3347C>T c.(3346-3348)TCA>TTA p.S1116L MPDZ_uc010mhx.2_Missense_Mutation_p.S8L|MPDZ_uc011lmm.1_Missense_Mutation_p.S8L|MPDZ_uc003zkz.3_Intron|MPDZ_uc010mhy.2_Missense_Mutation_p.S1116L|MPDZ_uc010mhz.2_Missense_Mutation_p.S1116L|MPDZ_uc011lmn.1_Missense_Mutation_p.S1116L|MPDZ_uc003zlb.3_Missense_Mutation_p.S1116L NM_003829 NP_003820 O75970 MPDZ_HUMAN multiple PDZ domain protein 1116 interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding ovary(5)|central_nervous_system(1) 6 GBM - Glioblastoma multiforme(50;2.03e-06) GCCAGTGTATGAAGAAAAAAT 0.378 NaN 0 0 0 0.006122 0 18 6 RNF20 56254 broad.mit.edu 37 9 104314697 104314697 + Silent SNP G G A TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr9:104314697G>A uc004bbn.2 + 13 1653 c.1563G>A c.(1561-1563)CAG>CAA p.Q521Q NM_019592 NP_062538 Q5VTR2 BRE1A_HUMAN ring finger protein 20 521 Potential. histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process nucleolus|ubiquitin ligase complex histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1) 8 all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311) CCCTCCTGCAGTCCCAGTCTA 0.498 NaN 0 0 0 0.006214 0 9 234 KIAA0368 23392 broad.mit.edu 37 9 114176711 114176711 + Missense_Mutation SNP C C T TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr9:114176711C>T uc004bfe.1 - 20 2519 c.2519G>A c.(2518-2520)GGA>GAA p.G840E KIAA0368_uc010muc.1_Missense_Mutation_p.G662E NM_001080398 NP_001073867 KIAA0368 protein 0 ATTCCTACCTCCAACACCTGC 0.413 NaN 0 0 0 0.00308 0 7 64 NUP188 23511 broad.mit.edu 37 9 131755675 131755675 + Missense_Mutation SNP G G C TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr9:131755675G>C uc004bws.1 + 26 2862 c.2840G>C c.(2839-2841)GGC>GCC p.G947A NUP188_uc004bwu.2_Missense_Mutation_p.G290A NM_015354 NP_056169 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 947 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1) 7 GGCAGTGATGGCTCAAAGGTA 0.522 NaN 0 0 0 0.004672 0 3 42 POMT1 10585 broad.mit.edu 37 9 134381814 134381814 + Missense_Mutation SNP A A G TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr9:134381814A>G uc004cav.2 + 4 456 c.254A>G c.(253-255)AAT>AGT p.N85S POMT1_uc011mci.1_Missense_Mutation_p.N85S|POMT1_uc004cax.2_Missense_Mutation_p.N85S|POMT1_uc011mcj.1_Missense_Mutation_p.I3V|POMT1_uc004cau.2_Missense_Mutation_p.N85S|POMT1_uc004caw.2_Missense_Mutation_p.N31S|POMT1_uc011mck.1_5'UTR|POMT1_uc011mcl.1_5'UTR|POMT1_uc011mcm.1_Silent_p.Q49Q NM_007171 NP_009102 Q9Y6A1 POMT1_HUMAN protein-O-mannosyltransferase 1 isoform a 85 Helical; (Potential). multicellular organismal development|protein O-linked glycosylation endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding upper_aerodigestive_tract(1) 1 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259) TTCGATGGCAATTTTTTGTGG 0.264 NaN 0 0 0 0.001855 0 10 238 TTF1 7270 broad.mit.edu 37 9 135276961 135276961 + Silent SNP G G A TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr9:135276961G>A uc004cbl.2 - 2 1300 c.1248C>T c.(1246-1248)AGC>AGT p.S416S TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Intron NM_007344 NP_031370 Q15361 TTF1_HUMAN transcription termination factor, RNA polymerase 416 negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) CAAAGAGTGTGCTCTCAGAGT 0.463 NaN 0 0 0 0.001168 0 5 88 COL5A1 1289 broad.mit.edu 37 9 137619185 137619185 + Missense_Mutation SNP A A T TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr9:137619185A>T uc004cfe.2 + 5 1110 c.728A>T c.(727-729)GAC>GTC p.D243V NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 243 Nonhelical region.|Laminin G-like. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) TACAGCCCTGACTGTGACACC 0.532 NaN 0 0 0 0.001984 0 7 68 FBXW5 54461 broad.mit.edu 37 9 139837920 139837920 + Missense_Mutation SNP C C A TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr9:139837920C>A uc004cjx.2 - 3 383 c.232G>T c.(232-234)GAC>TAC p.D78Y FBXW5_uc010nbx.2_5'Flank|FBXW5_uc004cjy.2_5'UTR|FBXW5_uc004cjz.2_5'UTR|C8G_uc004cka.2_5'Flank NM_018998 NP_061871 Q969U6 FBXW5_HUMAN F-box and WD repeat domain containing 5 78 catalytic activity|protein binding 0 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.19) OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106) GGCACCGTGTCATACAGCCGC 0.657 NaN 1 0 3.07112e-06 0.010729 3.38882e-06 10 16 STARD8 9754 broad.mit.edu 37 X 67940175 67940175 + Silent SNP A A C TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chrX:67940175A>C uc004dxa.2 + 7 2091 c.1719A>C c.(1717-1719)CCA>CCC p.P573P STARD8_uc004dxb.2_Silent_p.P653P|STARD8_uc004dxc.3_Silent_p.P573P NM_014725 NP_055540 Q92502 STAR8_HUMAN StAR-related lipid transfer (START) domain 573 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity breast(3)|ovary(2)|pancreas(1) 6 TTGGGGTGCCACCCCTCATCC 0.577 NaN 0 0 0 0.001168 0 4 4 SLC6A14 11254 broad.mit.edu 37 X 115573895 115573895 + Silent SNP A A G TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chrX:115573895A>G uc004eqi.2 + 4 491 c.387A>G c.(385-387)ACA>ACG p.T129T SLC6A14_uc011mtm.1_Intron NM_007231 NP_009162 Q9UN76 S6A14_HUMAN solute carrier family 6 (amino acid 129 Helical; Name=3; (Potential). cellular amino acid metabolic process|response to toxin integral to membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity ovary(2)|pancreas(1) 3 L-Proline(DB00172) TTTTTGTGACAATCTATTACA 0.303 NaN 0 0 0 0.001855 0 13 79 ODZ1 10178 broad.mit.edu 37 X 123556134 123556134 + Missense_Mutation SNP C C G TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chrX:123556134C>G uc004euj.2 - 23 4502 c.4438G>C c.(4438-4440)GAC>CAC p.D1480H ODZ1_uc011muj.1_Missense_Mutation_p.D1486H|ODZ1_uc010nqy.2_Missense_Mutation_p.D1487H NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 1480 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 GAAAAACAGTCACAGTTTGGA 0.438 NaN 0 0 0 0.004482 0 9 46 TMEM184B 25829 broad.mit.edu 37 22 38626692 38626692 + Frame_Shift_Del DEL G G - TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr22:38626692delG uc003avf.1 - 5 732 c.508delC c.(508-510)CTGfs p.L170fs TMEM184B_uc003avg.1_Frame_Shift_Del_p.L170fs|TMEM184B_uc003avh.1_Frame_Shift_Del_p.L104fs|TMEM184B_uc010gxl.1_RNA NM_012264 NP_036396 Q9Y519 T184B_HUMAN transmembrane protein 184B 170 integral to membrane 0 Melanoma(58;0.045) CAGAACCTCAGAAATCCGATG 0.607 NaN NaN NaN NaN NaN NaN 7 13 --- --- SYN2 6854 broad.mit.edu 37 3 12046124 12046126 + In_Frame_Del DEL AGC AGC - rs76272937 TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr3:12046124_12046126delAGC uc003bwm.2 + 1 263_265 c.99_101delAGC c.(97-102)CAACCG>CAG p.P40del SYN2_uc003bwl.1_In_Frame_Del_p.P40del NM_133625 NP_598328 Q92777 SYN2_HUMAN synapsin II isoform IIa 40 neurotransmitter secretion synaptic vesicle ATP binding|ligase activity ovary(1)|central_nervous_system(1) 2 AGCCCCAGCAAGCGCCGAcgccg 0.345 NaN NaN NaN NaN NaN NaN 3 5 --- --- AKAP9 10142 broad.mit.edu 37 7 91726612 91726613 + Frame_Shift_Ins INS - - A TCGA-BT-A20W-01A-21D-A14W-08 TCGA-BT-A20W-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85ccdf9b-f787-4701-822f-ae0fce5b4fc5 824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4 g.chr7:91726612_91726613insA uc003ulg.2 + 41 10564_10565 c.10339_10340insA c.(10339-10341)GAAfs p.E3447fs AKAP9_uc003ulf.2_Frame_Shift_Ins_p.E3439fs|AKAP9_uc003uli.2_Frame_Shift_Ins_p.E3070fs|AKAP9_uc003ulj.2_Frame_Shift_Ins_p.E1217fs|AKAP9_uc003ull.2_Frame_Shift_Ins_p.E343fs NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 3451 Potential. 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) CCAGAAGCAAGAACTAGAACGA 0.376 NaN T BRAF papillary thyroid NaN NaN NaN NaN NaN 19 23 --- ---