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 H6PD 9563 broad.mit.edu 37 1 9322285 9322285 + Silent SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr1:9322285A>C uc001apt.2 + 4 1186 c.913A>C c.(913-915)AGG>CGG p.R305R NM_004285 NP_004276 O95479 G6PE_HUMAN hexose-6-phosphate dehydrogenase precursor 305 Glucose 1-dehydrogenase. endoplasmic reticulum lumen 6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding 0 all_lung(157;0.23) all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419) NADH(DB00157) GGGCCTGCAGAGGGGCAGTGC 0.652000 PRAMEF4 400735 broad.mit.edu 37 1 12939698 12939698 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr1:12939698T>G uc001aun.2 - 4 1175 c.1104A>C c.(1102-1104)CAA>CAC p.Q368H NM_001009611 NP_001009611 O60810 PRAM4_HUMAN PRAME family member 4 368 LRR 5. ovary(1) 1 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TGGCGTTGACTTGGGAGTCTA 0.507000 UBR4 23352 broad.mit.edu 37 1 19489100 19489100 + Silent SNP C C T rs145868131 by1000genomes TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr1:19489100C>T uc001bbi.2 - 35 4774 c.4770G>A c.(4768-4770)GTG>GTA p.V1590V UBR4_uc001bbm.1_Silent_p.V801V NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 1590 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) CCAAGATCATCACATGCTGTA 0.433000 MYOM3 127294 broad.mit.edu 37 1 24413270 24413270 + Silent SNP A A G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr1:24413270A>G uc001bin.3 - 15 1825 c.1662T>C c.(1660-1662)CCT>CCC p.P554P MYOM3_uc001bim.3_Silent_p.P211P|MYOM3_uc001bio.2_Silent_p.P554P|MYOM3_uc001bip.1_Silent_p.P211P NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN myomesin family, member 3 554 Fibronectin type-III 2. skin(2)|ovary(1) 3 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) GGGATCTCACAGGGCTTTCCG 0.557000 COL16A1 1307 broad.mit.edu 37 1 32120438 32120438 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr1:32120438C>T uc001btk.1 - 68 4677 c.4312G>A c.(4312-4314)GAA>AAA p.E1438K COL16A1_uc001bti.1_Missense_Mutation_p.E52K|COL16A1_uc001btj.1_Missense_Mutation_p.E1236K NM_001856 NP_001847 Q07092 COGA1_HUMAN alpha 1 type XVI collagen precursor 1438 Nonhelical region 2 (NC2). cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity ovary(8) 8 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) CTCTTGATTTCATCATAATTC 0.448000 PTPRF 5792 broad.mit.edu 37 1 44086848 44086848 + Missense_Mutation SNP T T A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr1:44086848T>A uc001cjr.2 + 33 5940 c.5600T>A c.(5599-5601)ATG>AAG p.M1867K PTPRF_uc001cjs.2_Missense_Mutation_p.M1858K|PTPRF_uc001cju.2_Missense_Mutation_p.M1256K|PTPRF_uc009vwt.2_Missense_Mutation_p.M1427K|PTPRF_uc001cjv.2_Missense_Mutation_p.M1338K|PTPRF_uc001cjw.2_Missense_Mutation_p.M1093K NM_002840 NP_002831 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1867 Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1) 10 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GTGGTCGACATGTTTCAGACC 0.627000 LRRIQ3 127255 broad.mit.edu 37 1 74507054 74507054 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr1:74507054A>C uc001dfy.3 - 7 1753 c.1561T>G c.(1561-1563)TTA>GTA p.L521V LRRIQ3_uc001dfz.3_Intron NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 521 ovary(2) 2 TCATTATTTAAGTTTTGAACT 0.368000 LPPR4 9890 broad.mit.edu 37 1 99772202 99772202 + Missense_Mutation SNP G G C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr1:99772202G>C uc001dse.2 + 7 2034 c.1928G>C c.(1927-1929)GGC>GCC p.G643A LPPR4_uc010oue.1_Missense_Mutation_p.G585A NM_014839 NP_055654 Q7Z2D5 LPPR4_HUMAN plasticity related gene 1 643 phosphatidate phosphatase activity ovary(3) 3 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) GAAGGTGAAGGCAGTGGCTCC 0.537000 FLG2 388698 broad.mit.edu 37 1 152327439 152327439 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr1:152327439A>C uc001ezw.3 - 3 2896 c.2823T>G c.(2821-2823)AGT>AGG p.S941R uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 941 Ser-rich. calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCTGTCCTGAACTTGACCCAT 0.493000 CD1C 911 broad.mit.edu 37 1 158259869 158259869 + Silent SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr1:158259869G>A uc001fru.2 + 1 307 c.15G>A c.(13-15)CAG>CAA p.Q5Q CD1C_uc001frv.2_5'Flank NM_001765 NP_001756 P29017 CD1C_HUMAN CD1C antigen precursor 5 antigen processing and presentation|T cell activation involved in immune response endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding ovary(2)|skin(1)|pancreas(1) 4 all_hematologic(112;0.0378) TGTTTCTGCAGTTTCTGCTGC 0.448000 CD1B 910 broad.mit.edu 37 1 158298772 158298772 + Missense_Mutation SNP C C G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr1:158298772C>G uc001frx.2 - 5 1027 c.919G>C c.(919-921)GCA>CCA p.A307P CD1B_uc001frw.2_Missense_Mutation_p.A145P NM_001764 NP_001755 P29016 CD1B_HUMAN CD1B antigen precursor 307 Helical; (Potential). antigen processing and presentation|immune response endosome membrane|integral to membrane|lysosomal membrane|plasma membrane protein binding ovary(2) 2 all_hematologic(112;0.0378) ACTATTATTGCCAAAACAATT 0.428000 OR6Y1 391112 broad.mit.edu 37 1 158517014 158517014 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr1:158517014A>C uc010pil.1 - 1 882 c.882T>G c.(880-882)ATT>ATG p.I294M NM_001005189 NP_001005189 Q8NGX8 OR6Y1_HUMAN olfactory receptor, family 6, subfamily Y, 294 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) TCAGACAGTAAATGATGGGGT 0.453000 OR10J3 441911 broad.mit.edu 37 1 159283665 159283665 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr1:159283665T>G uc010piu.1 - 1 785 c.785A>C c.(784-786)AAG>ACG p.K262T NM_001004467 NP_001004467 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, 262 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 all_hematologic(112;0.0429) GGACTTAGGCTTCAGGTAGAT 0.532000 OR10J3 441911 broad.mit.edu 37 1 159284373 159284373 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr1:159284373A>C uc010piu.1 - 1 77 c.77T>G c.(76-78)CTT>CGT p.L26R NM_001004467 NP_001004467 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, 26 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 all_hematologic(112;0.0429) AAAGAAGACAAGTTTGTGCTG 0.448000 OLFML2B 25903 broad.mit.edu 37 1 161987209 161987209 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr1:161987209C>T uc001gbu.2 - 3 951 c.527G>A c.(526-528)CGA>CAA p.R176Q OLFML2B_uc010pkq.1_Missense_Mutation_p.R176Q NM_015441 NP_056256 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B precursor 176 skin(1) 1 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) TTTATCCACTCGCCCCACCAG 0.438000 DDR2 4921 broad.mit.edu 37 1 162741933 162741933 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr1:162741933G>A uc001gcf.2 + 14 2089 c.1624G>A c.(1624-1626)GCC>ACC p.A542T DDR2_uc001gcg.2_Missense_Mutation_p.A542T NM_001014796 NP_001014796 Q16832 DDR2_HUMAN discoidin domain receptor family, member 2 542 Cytoplasmic (Potential). cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(2)|central_nervous_system(2)|ovary(1)|kidney(1) 6 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) CTCAGTGCCTGCCGTCACCAT 0.562000 SELP 6403 broad.mit.edu 37 1 169562867 169562867 + Silent SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr1:169562867G>A uc001ggi.3 - 14 2448 c.2383C>T c.(2383-2385)CTA>TTA p.L795L SELP_uc001ggh.2_Intron|SELP_uc009wvr.2_Silent_p.L794L NM_003005 NP_002996 P16109 LYAM3_HUMAN selectin P precursor 795 Helical; (Potential). platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding ovary(2)|skin(2) 4 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) CGCTTTCTTAGCAAAGCCAGG 0.423000 TNN 63923 broad.mit.edu 37 1 175046771 175046771 + Silent SNP T T C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr1:175046771T>C uc001gkl.1 + 2 330 c.217T>C c.(217-219)TTG>CTG p.L73L TNN_uc010pmx.1_Silent_p.L73L NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 73 cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GGCTTCGCTCTTGGCCCTGGG 0.592000 PAPPA2 60676 broad.mit.edu 37 1 176681096 176681096 + Silent SNP A A G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr1:176681096A>G uc001gkz.2 + 12 4941 c.3777A>G c.(3775-3777)AAA>AAG p.K1259K PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 1259 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 GCCTGAAGAAAGAGGATGAGG 0.398000 KCNT2 343450 broad.mit.edu 37 1 196227371 196227371 + Missense_Mutation SNP A A G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr1:196227371A>G uc001gtd.1 - 26 3224 c.3164T>C c.(3163-3165)CTT>CCT p.L1055P KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.L988P|KCNT2_uc001gtf.1_Missense_Mutation_p.L1031P|KCNT2_uc001gtg.1_RNA|KCNT2_uc001gth.1_Missense_Mutation_p.L559P NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 1055 Cytoplasmic (Potential). voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(5)|breast(1)|skin(1) 7 ATTTTTCACAAGTTCAGCAAG 0.403000 KCNT2 343450 broad.mit.edu 37 1 196250004 196250004 + Missense_Mutation SNP G G T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr1:196250004G>T uc001gtd.1 - 25 2956 c.2896C>A c.(2896-2898)CTT>ATT p.L966I KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.L892I|KCNT2_uc001gtf.1_Missense_Mutation_p.L942I|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.L942I|KCNT2_uc001gth.1_Missense_Mutation_p.L463I NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 966 Cytoplasmic (Potential). voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(5)|breast(1)|skin(1) 7 GATGTAGTAAGTTTCTGAGAC 0.328000 FMOD 2331 broad.mit.edu 37 1 203317143 203317143 + Missense_Mutation SNP A A G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr1:203317143A>G uc001gzr.2 - 2 392 c.256T>C c.(256-258)TTC>CTC p.F86L FMOD_uc010pqi.1_RNA NM_002023 NP_002014 Q06828 FMOD_HUMAN fibromodulin precursor 86 Cys-rich.|LRRNT. transforming growth factor beta receptor complex assembly extracellular space|proteinaceous extracellular matrix ovary(2)|breast(1) 3 BRCA - Breast invasive adenocarcinoma(75;0.171) GCCGTGGGGAAGTTGGGTGGG 0.587000 PCNXL2 80003 broad.mit.edu 37 1 233344423 233344423 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr1:233344423T>G uc001hvl.2 - 13 2939 c.2704A>C c.(2704-2706)ATC>CTC p.I902L PCNXL2_uc009xfu.2_RNA|PCNXL2_uc001hvp.1_RNA|PCNXL2_uc009xfv.1_RNA|PCNXL2_uc001hvq.1_Missense_Mutation_p.I201L NM_014801 NP_055616 A6NKB5 PCX2_HUMAN pecanex-like 2 902 Helical; (Potential). integral to membrane central_nervous_system(1)|pancreas(1) 2 all_cancers(173;0.0347)|Prostate(94;0.137) TATGTTATGATTTGGTTGTGT 0.368000 RYR2 6262 broad.mit.edu 37 1 237608821 237608821 + Missense_Mutation SNP A A T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr1:237608821A>T uc001hyl.1 + 14 1411 c.1291A>T c.(1291-1293)AGG>TGG p.R431W NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 431 Cytoplasmic (By similarity). cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TAGATTTATAAGGTACTTTTT 0.363000 LARP4B 23185 broad.mit.edu 37 10 888940 888940 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr10:888940G>A uc001ifs.1 - 6 619 c.578C>T c.(577-579)ACG>ATG p.T193M NM_015155 NP_055970 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 193 HTH La-type RNA-binding. nucleotide binding|RNA binding ovary(2)|central_nervous_system(1) 3 GTTAGCCACCGTTGTGATTGG 0.378000 ITIH5 80760 broad.mit.edu 37 10 7618705 7618705 + Silent SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr10:7618705T>G uc001ijq.2 - 10 1768 c.1689A>C c.(1687-1689)GGA>GGC p.G563G ITIH5_uc001ijp.2_Silent_p.G349G|ITIH5_uc001ijr.1_Silent_p.G563G NM_030569 NP_085046 Q86UX2 ITIH5_HUMAN inter-alpha trypsin inhibitor heavy chain 563 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(2) 4 CTCCATCGCCTCCAGGCCTGG 0.572000 PTF1A 256297 broad.mit.edu 37 10 23481522 23481522 + Silent SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr10:23481522C>T uc001irp.2 + 1 63 c.63C>T c.(61-63)TTC>TTT p.F21F NM_178161 NP_835455 Q7RTS3 PTF1A_HUMAN pancreas specific transcription factor, 1a 21 endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent cytoplasm|transcription factor complex pancreas(1)|skin(1) 2 CTTCGTACTTCGACGAGGACG 0.667000 GPR158 57512 broad.mit.edu 37 10 25888082 25888082 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr10:25888082T>G uc001isj.2 + 11 3587 c.3527T>G c.(3526-3528)TTT>TGT p.F1176C GPR158_uc001isk.2_Missense_Mutation_p.F551C NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 1176 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 CCTTGGGAGTTTGAGACCCCA 0.453000 MYO3A 53904 broad.mit.edu 37 10 26432425 26432425 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr10:26432425G>A uc001isn.2 + 21 2671 c.2311G>A c.(2311-2313)GAT>AAT p.D771N MYO3A_uc009xko.1_Missense_Mutation_p.D771N|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN myosin IIIA 771 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 18 TGAATATGAGGATAACTGGCC 0.358000 ANK3 288 broad.mit.edu 37 10 61832206 61832206 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr10:61832206T>G uc001jky.2 - 37 8625 c.8433A>C c.(8431-8433)AAA>AAC p.K2811N ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 2811 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 CAGTTCTCTGTTTTTTCACAT 0.368000 ANK3 288 broad.mit.edu 37 10 61834976 61834976 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr10:61834976T>G uc001jky.2 - 37 5855 c.5663A>C c.(5662-5664)AAG>ACG p.K1888T ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 1888 Ser-rich. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 TGTAGACAACTTAAGGGCAGA 0.433000 JMJD1C 221037 broad.mit.edu 37 10 64974609 64974609 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr10:64974609C>T uc001jmn.2 - 8 1618 c.1318G>A c.(1318-1320)GAT>AAT p.D440N JMJD1C_uc001jml.2_Missense_Mutation_p.D221N|JMJD1C_uc001jmm.2_Missense_Mutation_p.D152N|JMJD1C_uc010qiq.1_Missense_Mutation_p.D258N|JMJD1C_uc009xpi.2_Missense_Mutation_p.D258N|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmp.1_Missense_Mutation_p.D152N NM_032776 NP_116165 Q15652 JHD2C_HUMAN jumonji domain containing 1C isoform a 440 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding ovary(4)|breast(1)|central_nervous_system(1) 6 Prostate(12;0.0119)|all_hematologic(501;0.191) TGTTTTTTATCTTCCTGTATT 0.393000 CUZD1 50624 broad.mit.edu 37 10 124594423 124594423 + Missense_Mutation SNP T T A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr10:124594423T>A uc001lgq.2 - 7 1513 c.1181A>T c.(1180-1182)AAC>ATC p.N394I CUZD1_uc001lgp.2_Missense_Mutation_p.N113I|CUZD1_uc009yad.2_Missense_Mutation_p.N113I|CUZD1_uc009yaf.2_Missense_Mutation_p.N28I|CUZD1_uc001lgr.2_Missense_Mutation_p.N113I|CUZD1_uc010qty.1_Missense_Mutation_p.N113I|CUZD1_uc009yae.2_Missense_Mutation_p.N113I|CUZD1_uc001lgs.2_Missense_Mutation_p.N394I|CUZD1_uc010qtz.1_Missense_Mutation_p.N394I NM_022034 NP_071317 Q86UP6 CUZD1_HUMAN CUB and zona pellucida-like domains 1 precursor 394 Extracellular (Potential).|ZP. cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation integral to membrane|transport vesicle membrane|zymogen granule membrane ovary(1)|skin(1) 2 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141) CATGCTGGTGTTATATTTGCC 0.318000 LRDD 55367 broad.mit.edu 37 11 799408 799408 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr11:799408G>A uc001lro.1 - 16 2774 c.2632C>T c.(2632-2634)CGC>TGC p.R878C SLC25A22_uc009yci.2_5'Flank|SLC25A22_uc001lrj.2_5'Flank|LRDD_uc009yck.1_RNA|LRDD_uc001lrk.1_Missense_Mutation_p.R861C|LRDD_uc001lrl.1_Missense_Mutation_p.R721C|LRDD_uc001lrm.1_Missense_Mutation_p.R565C|LRDD_uc001lrn.1_Missense_Mutation_p.R721C|LRDD_uc001lrp.1_3'UTR NM_145886 NP_665893 Q9HB75 PIDD_HUMAN leucine rich repeat and death domain containing 878 apoptosis|signal transduction cytoplasm|nucleus death receptor binding 0 all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198) all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) TGGTACTTGCGGCGGCCGAGC 0.701000 OR51F1 256892 broad.mit.edu 37 11 4790367 4790367 + Missense_Mutation SNP A A G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr11:4790367A>G uc010qyl.1 - 1 781 c.781T>C c.(781-783)TCC>CCC p.S261P NM_001004752 NP_001004752 A6NLW9 A6NLW9_HUMAN olfactory receptor, family 51, subfamily F, 261 integral to membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192) TACACCAAGGACAGGCTCAGC 0.522000 OR51S1 119692 broad.mit.edu 37 11 4869842 4869842 + Silent SNP T T C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr11:4869842T>C uc010qyo.1 - 1 597 c.597A>G c.(595-597)GAA>GAG p.E199E NM_001004758 NP_001004758 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, 199 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) CACCCCAAGCTTCTGGGCAGG 0.542000 OR51G1 79324 broad.mit.edu 37 11 4945136 4945136 + Missense_Mutation SNP T T A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr11:4945136T>A uc010qyr.1 - 1 434 c.434A>T c.(433-435)AAG>ATG p.K145M NM_001005237 NP_001005237 Q8NGK1 O51G1_HUMAN olfactory receptor, family 51, subfamily G, 145 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) TAGCCCCATCTTGACAATACA 0.532000 OR51A4 401666 broad.mit.edu 37 11 4967541 4967541 + Missense_Mutation SNP G G A rs147925897 byFrequency TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr11:4967541G>A uc010qys.1 - 1 790 c.790C>T c.(790-792)CGC>TGC p.R264C NM_001005329 NP_001005329 Q8NGJ6 O51A4_HUMAN olfactory receptor, family 51, subfamily A, 264 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) CGGGCAAAGCGGTGGACAACG 0.458000 OR52H1 390067 broad.mit.edu 37 11 5565929 5565929 + Missense_Mutation SNP A A T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr11:5565929A>T uc010qzh.1 - 1 825 c.825T>A c.(823-825)AAT>AAA p.N275K HBG2_uc001mak.1_Intron NM_001005289 NP_001005289 Q8NGJ2 O52H1_HUMAN olfactory receptor, family 52, subfamily H, 275 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGCGAGAGACATTGTGTCCAA 0.493000 OR10A3 26496 broad.mit.edu 37 11 7960149 7960149 + Silent SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr11:7960149T>G uc010rbi.1 - 1 919 c.919A>C c.(919-921)AGA>CGA p.R307R NM_001003745 NP_001003745 P58181 O10A3_HUMAN olfactory receptor, family 10, subfamily A, 307 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) ATCACTTTTCTTCGCCATAGT 0.393000 OR4A47 403253 broad.mit.edu 37 11 48511002 48511002 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr11:48511002T>G uc010rhx.1 + 1 658 c.658T>G c.(658-660)TTG>GTG p.L220V NM_001005512 NP_001005512 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, 220 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TGGTGTCATCTTGCACTCTTT 0.463000 OR4A5 81318 broad.mit.edu 37 11 51412307 51412307 + Nonsense_Mutation SNP A A T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr11:51412307A>T uc001nhi.1 - 1 89 c.89T>A c.(88-90)TTA>TAA p.L30* NM_001005272 NP_001005272 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, 30 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(304;0.236) GTATGTGAGTAAAAACATGAC 0.423000 OR4P4 81300 broad.mit.edu 37 11 55406423 55406423 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr11:55406423T>G uc010rij.1 + 1 590 c.590T>G c.(589-591)GTC>GGC p.V197G NM_001004124 NP_001004124 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, 197 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 GGTCTCTTAGTCATTGCTAAT 0.368000 OR5D14 219436 broad.mit.edu 37 11 55563048 55563048 + Missense_Mutation SNP G G T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr11:55563048G>T uc010rim.1 + 1 17 c.17G>T c.(16-18)AGG>ATG p.R6M NM_001004735 NP_001004735 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, 6 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 all_epithelial(135;0.196) ATGGTTTTAAGGAATCTGAGC 0.393000 OR8J3 81168 broad.mit.edu 37 11 55904446 55904446 + Missense_Mutation SNP A A C rs146359186 by1000genomes TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr11:55904446A>C uc010riz.1 - 1 749 c.749T>G c.(748-750)GTT>GGT p.V250G NM_001004064 NP_001004064 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, 250 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.00693) CCCATAGAAAACCGTGACTGC 0.403000 OR8K1 390157 broad.mit.edu 37 11 56113874 56113874 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr11:56113874T>G uc010rjg.1 + 1 360 c.360T>G c.(358-360)ATT>ATG p.I120M NM_001002907 NP_001002907 Q8NGG5 OR8K1_HUMAN olfactory receptor, family 8, subfamily K, 120 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Esophageal squamous(21;0.00448) AGCTCTTTATTCTATCAGCAA 0.393000 HNSCC(65;0.19) P2RX3 5024 broad.mit.edu 37 11 57114108 57114108 + Silent SNP C C T rs149738072 TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr11:57114108C>T uc001nju.2 + 2 286 c.210C>T c.(208-210)TAC>TAT p.Y70Y NM_002559 NP_002550 P56373 P2RX3_HUMAN purinergic receptor P2X3 70 Extracellular (Potential). positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity 0 CCGGACTCTACGCCAACAGAG 0.572000 AHNAK 79026 broad.mit.edu 37 11 62287621 62287621 + Silent SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr11:62287621G>A uc001ntl.2 - 5 14568 c.14268C>T c.(14266-14268)GAC>GAT p.D4756D AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 4756 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) GGCCCTTGATGTCAGCTTCTG 0.502000 CCDC88B 283234 broad.mit.edu 37 11 64109148 64109148 + Silent SNP G G A rs139000172 TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr11:64109148G>A uc001nzy.2 + 7 653 c.609G>A c.(607-609)GAG>GAA p.E203E CCDC88B_uc009ypo.1_Silent_p.E200E|CCDC88B_uc001nzz.1_5'Flank NM_032251 NP_115627 A6NC98 CC88B_HUMAN coiled-coil domain containing 88 203 microtubule cytoskeleton organization cytoplasm microtubule binding ovary(3)|skin(1) 4 CCGAGCTGGAGATGCTGTCCC 0.692000 MAP4K2 5871 broad.mit.edu 37 11 64564487 64564487 + Silent SNP G G C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr11:64564487G>C uc001obh.2 - 20 1466 c.1374C>G c.(1372-1374)TCC>TCG p.S458S MAP4K2_uc001obg.2_5'Flank|MAP4K2_uc001obi.2_Silent_p.S450S NM_004579 NP_004570 Q12851 M4K2_HUMAN mitogen-activated protein kinase kinase kinase 458 activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting basolateral plasma membrane|Golgi membrane|soluble fraction ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(1)|pancreas(1) 2 GCCCGTGGCAGGATGACCTCT 0.637000 NUMA1 4926 broad.mit.edu 37 11 71733400 71733400 + Missense_Mutation SNP A A T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr11:71733400A>T uc001orl.1 - 7 529 c.357T>A c.(355-357)TTT>TTA p.F119L NUMA1_uc001ork.1_Missense_Mutation_p.F119L|NUMA1_uc001orm.1_Missense_Mutation_p.F119L|NUMA1_uc009ysx.1_Missense_Mutation_p.F119L|NUMA1_uc001oro.1_Missense_Mutation_p.F119L|NUMA1_uc009ysy.1_Missense_Mutation_p.F119L|NUMA1_uc001orp.2_Missense_Mutation_p.F119L|NUMA1_uc001orq.2_Missense_Mutation_p.F119L NM_006185 NP_006176 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 119 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity ovary(3)|lung(2)|skin(2)|central_nervous_system(1) 8 TTTTATATTCAAACTGTTCCC 0.493000 T RARA APL USP35 57558 broad.mit.edu 37 11 77921035 77921035 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr11:77921035G>A uc009yva.1 + 10 2380 c.2134G>A c.(2134-2136)GTG>ATG p.V712M USP35_uc001oze.2_Missense_Mutation_p.V468M|USP35_uc001ozc.2_Missense_Mutation_p.V280M|USP35_uc010rsp.1_Missense_Mutation_p.V144M|USP35_uc001ozd.2_Missense_Mutation_p.V323M|USP35_uc001ozf.2_Missense_Mutation_p.V443M NM_020798 NP_065849 Q9P2H5 UBP35_HUMAN ubiquitin specific protease 35 712 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|ovary(1) 3 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) agaggaggaggtggaagagga 0.124000 PICALM 8301 broad.mit.edu 37 11 85712081 85712081 + Silent SNP T T C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr11:85712081T>C uc001pbm.2 - 10 1300 c.1014A>G c.(1012-1014)TTA>TTG p.L338L PICALM_uc001pbl.2_Silent_p.L338L|PICALM_uc001pbn.2_Silent_p.L338L|PICALM_uc010rtl.1_Silent_p.L287L|PICALM_uc010rtk.1_5'UTR|PICALM_uc001pbo.1_5'UTR NM_007166 NP_009097 Q13492 PICAL_HUMAN phosphatidylinositol-binding clathrin assembly 338 clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane 1-phosphatidylinositol binding|clathrin heavy chain binding urinary_tract(1)|ovary(1) 2 Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092) AACTTACCTTTAAAGCTTTCA 0.428000 T MLLT10|MLL TALL|AML| GRM5 2915 broad.mit.edu 37 11 88781002 88781002 + Silent SNP T T C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr11:88781002T>C uc001pcq.2 - 1 239 c.39A>G c.(37-39)AAA>AAG p.K13K GRM5_uc009yvm.2_Silent_p.K13K|GRM5_uc009yvn.1_Silent_p.K13K NM_001143831 NP_001137303 P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 isoform a 13 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity central_nervous_system(4)|ovary(2)|lung(2)|breast(1) 9 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) GGACATCTTCTTTCAAAAGTA 0.473000 PGR 5241 broad.mit.edu 37 11 100999459 100999459 + Silent SNP A A G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr11:100999459A>G uc001pgh.2 - 1 1086 c.343T>C c.(343-345)TTG>CTG p.L115L PGR_uc001pgi.2_Silent_p.L115L|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA|uc010rum.1_5'Flank NM_000926 NP_000917 P06401 PRGR_HUMAN progesterone receptor 115 Modulating, Pro-Rich. cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding lung(1)|liver(1)|central_nervous_system(1)|pancreas(1) 4 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) AGAGTGTCCAAGACACTGTCC 0.627000 DDI1 414301 broad.mit.edu 37 11 103908222 103908222 + Silent SNP A A G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr11:103908222A>G uc001phr.2 + 1 915 c.672A>G c.(670-672)GAA>GAG p.E224E PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron NM_001001711 NP_001001711 Q8WTU0 DDI1_HUMAN DDI1, DNA-damage inducible 1, homolog 1 224 proteolysis aspartic-type endopeptidase activity large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1) 5 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) AAAACATTGAAGAAAACATGA 0.478000 RDX 5962 broad.mit.edu 37 11 110126036 110126036 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr11:110126036T>G uc001pku.2 - 8 1083 c.773A>C c.(772-774)AAG>ACG p.K258T RDX_uc009yxx.1_RNA|RDX_uc009yxy.2_Missense_Mutation_p.K258T|RDX_uc009yxz.2_Intron|RDX_uc009yya.2_Intron|RDX_uc010rwe.1_Missense_Mutation_p.K122T NM_002906 NP_002897 P35241 RADI_HUMAN radixin 258 FERM. actin filament capping cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane actin binding 0 all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248) GTCGATTGGCTTTATAACAAA 0.284000 ZBTB16 7704 broad.mit.edu 37 11 113934258 113934258 + Missense_Mutation SNP C C G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr11:113934258C>G uc001pop.2 + 2 500 c.236C>G c.(235-237)ACC>AGC p.T79S ZBTB16_uc001poo.1_Missense_Mutation_p.T79S|ZBTB16_uc001poq.2_Missense_Mutation_p.T79S NM_006006 NP_005997 Q05516 ZBT16_HUMAN promyelocytic leukemia zinc finger protein 79 BTB. apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent nuclear speck|PML body|transcriptional repressor complex protein homodimerization activity|zinc ion binding central_nervous_system(1)|skin(1) 2 all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438) BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018) TCGCCAAAGACCTTCCAGCAG 0.557000 PHLDB1 23187 broad.mit.edu 37 11 118509945 118509945 + Silent SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr11:118509945G>A uc001ptr.1 + 13 3065 c.2712G>A c.(2710-2712)CCG>CCA p.P904P PHLDB1_uc001pts.2_Silent_p.P904P|PHLDB1_uc001ptt.2_Silent_p.P904P|PHLDB1_uc001ptu.1_RNA|PHLDB1_uc001ptv.1_Silent_p.P704P|PHLDB1_uc001ptw.1_Silent_p.P306P|PHLDB1_uc009zai.1_5'UTR|PHLDB1_uc001ptx.1_5'UTR|PHLDB1_uc010ryi.1_5'Flank|PHLDB1_uc010ryj.1_5'Flank NM_015157 NP_055972 Q86UU1 PHLB1_HUMAN pleckstrin homology-like domain, family B, 904 0 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) GGCCTTTCCCGAAGACCACAT 0.552000 GRAMD1B 57476 broad.mit.edu 37 11 123477446 123477446 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr11:123477446T>G uc001pyx.2 + 10 1353 c.1024T>G c.(1024-1026)TTC>GTC p.F342V GRAMD1B_uc001pyw.2_Missense_Mutation_p.F349V|GRAMD1B_uc010rzw.1_Missense_Mutation_p.F302V|GRAMD1B_uc010rzx.1_Missense_Mutation_p.F302V|GRAMD1B_uc009zbe.1_Missense_Mutation_p.F338V|GRAMD1B_uc001pyy.2_5'Flank NM_020716 NP_065767 Q3KR37 GRM1B_HUMAN GRAM domain containing 1B 342 integral to membrane ovary(1) 1 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394) TTCACTGGACTTCAATGACAA 0.537000 OR6M1 390261 broad.mit.edu 37 11 123676403 123676403 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr11:123676403T>G uc010rzz.1 - 1 655 c.655A>C c.(655-657)ATT>CTT p.I219L NM_001005325 NP_001005325 Q8NGM8 OR6M1_HUMAN olfactory receptor, family 6, subfamily M, 219 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028) ATGGTAGAAATTATGTACACG 0.488000 OR10G8 219869 broad.mit.edu 37 11 123900377 123900377 + Silent SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr11:123900377C>T uc001pzp.1 + 1 48 c.48C>T c.(46-48)CCC>CCT p.P16P NM_001004464 NP_001004464 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, 16 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 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;0.0521) TGGGCCTTCCCCATGCCCCAG 0.577000 NTM 50863 broad.mit.edu 37 11 132016335 132016335 + Silent SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr11:132016335C>T uc001qgp.2 + 2 991 c.327C>T c.(325-327)GAC>GAT p.D109D NTM_uc001qgm.2_Silent_p.D109D|NTM_uc010sch.1_Silent_p.D100D|NTM_uc010sci.1_Silent_p.D109D|NTM_uc010scj.1_Silent_p.D68D|NTM_uc001qgo.2_Silent_p.D109D|NTM_uc001qgq.2_Silent_p.D109D NM_016522 NP_057606 Q9P121 NTRI_HUMAN neurotrimin isoform 1 109 Ig-like C2-type 1. cell adhesion|neuron recognition anchored to membrane|plasma membrane ovary(4)|central_nervous_system(1)|skin(1) 6 ATGTGTATGACGAGGGCCCTT 0.577000 THYN1 29087 broad.mit.edu 37 11 134121176 134121176 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr11:134121176T>G uc001qhf.2 - 3 172 c.70A>C c.(70-72)AAA>CAA p.K24Q THYN1_uc001qhg.2_Missense_Mutation_p.K24Q|THYN1_uc001qhh.2_Missense_Mutation_p.K24Q|THYN1_uc001qhi.2_Missense_Mutation_p.K24Q|THYN1_uc001qhj.2_Missense_Mutation_p.K24Q|THYN1_uc009zdb.2_Missense_Mutation_p.K24Q|ACAD8_uc009zdc.2_5'Flank|ACAD8_uc010sco.1_5'Flank|ACAD8_uc010scp.1_5'Flank|ACAD8_uc010scq.1_5'Flank|ACAD8_uc001qhk.2_5'Flank|ACAD8_uc001qhl.2_5'Flank NM_001037305 NP_001032382 Q9P016 THYN1_HUMAN thymocyte nuclear protein 1 isoform 1 24 nucleus 0 all_hematologic(175;0.127) all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207) TTCTCAGTTTTGGTGCGTTTT 0.358000 SLCO1C1 53919 broad.mit.edu 37 12 20854340 20854340 + Missense_Mutation SNP G G T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr12:20854340G>T uc001rej.3 + 4 573 c.218G>T c.(217-219)AGG>ATG p.R73M SLCO1C1_uc010sii.1_Missense_Mutation_p.R73M|SLCO1C1_uc010sij.1_Missense_Mutation_p.R73M|SLCO1C1_uc009zip.2_Intron|SLCO1C1_uc001rei.2_Missense_Mutation_p.R73M|SLCO1C1_uc010sik.1_Intron NM_017435 NP_059131 Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, 73 Extracellular (Potential). sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity ovary(5)|pancreas(1)|skin(1) 7 Esophageal squamous(101;0.149) ATAGAGAGAAGGTTTGATATC 0.398000 SLCO1B1 10599 broad.mit.edu 37 12 21370153 21370153 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr12:21370153A>C uc001req.3 + 12 1702 c.1598A>C c.(1597-1599)AAA>ACA p.K533T NM_006446 NP_006437 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, 533 Extracellular (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1) 8 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) TGTACAAGGAAATTTTACTTT 0.373000 ABCC9 10060 broad.mit.edu 37 12 22047092 22047092 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr12:22047092G>A uc001rfi.1 - 12 1696 c.1676C>T c.(1675-1677)GCG>GTG p.A559V ABCC9_uc001rfh.2_Missense_Mutation_p.A559V|ABCC9_uc001rfj.1_Missense_Mutation_p.A559V NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 559 Extracellular (Potential).|ABC transmembrane type-1 1. 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) ACTGGCATACGCATGGGTCAC 0.463000 KRAS 3845 broad.mit.edu 37 12 25398281 25398281 + Missense_Mutation SNP C C T rs112445441 TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr12:25398281C>T uc001rgp.1 - 2 219 c.38G>A c.(37-39)GGC>GAC p.G13D KRAS_uc001rgq.1_Missense_Mutation_p.G13D|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 13 GTP. G -> R (in pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway).|G -> D (in a breast carcinoma cell line and GASC; somatic mutation). 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 plasma membrane GTP binding|GTPase activity|protein binding p.G13D(2647)|p.G13C(182)|p.G13S(58)|p.G13R(41)|p.G13V(27)|p.G13A(24)|p.G13G(11)|p.G13E(4)|p.G12_G13insG(4)|p.G13N(3)|p.G13I(1)|p.G13_V14>DI(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CTTGCCTACGCCACCAGCTCC 0.338000 G13D(NCIH647_LUNG)|G13D(MDAMB231_BREAST)|G13D(NCIH747_LARGE_INTESTINE)|G13D(T84_LARGE_INTESTINE)|G13D(LOVO_LARGE_INTESTINE)|G13D(DLD1_LARGE_INTESTINE)|G13D(DV90_LUNG)|G13D(HCT15_LARGE_INTESTINE)|G13D(HCT116_LARGE_INTESTINE)|G13D(TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(NOMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) SFRS2IP 9169 broad.mit.edu 37 12 46355485 46355485 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr12:46355485C>T uc001rox.2 - 3 504 c.217G>A c.(217-219)GAG>AAG p.E73K SFRS2IP_uc001roy.1_Missense_Mutation_p.E137K|SFRS2IP_uc009zki.1_RNA|SFRS2IP_uc001roz.2_Missense_Mutation_p.E73K NM_004719 NP_004710 Q99590 SCAFB_HUMAN splicing factor, arginine/serine-rich 2, 73 RING-type; degenerate. spliceosome assembly nucleus protein binding|zinc ion binding 0 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.209) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.1) AGACTTACCTCTGCCCATTTA 0.323000 KIAA0748 9840 broad.mit.edu 37 12 55360985 55360985 + Missense_Mutation SNP A A T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr12:55360985A>T uc001sgn.3 - 5 402 c.292T>A c.(292-294)TTG>ATG p.L98M KIAA0748_uc001sgl.3_Translation_Start_Site|KIAA0748_uc001sgm.3_Translation_Start_Site|KIAA0748_uc010spb.1_Translation_Start_Site|KIAA0748_uc010spc.1_Translation_Start_Site|KIAA0748_uc010spd.1_Missense_Mutation_p.L98M|KIAA0748_uc001sgo.3_RNA NM_001098815 NP_001092285 A2RU30 K0748_HUMAN hypothetical protein LOC9840 98 ovary(1)|central_nervous_system(1) 2 CCCAGGGTCAAGTCATCTTCA 0.468000 IKZF4 64375 broad.mit.edu 37 12 56415326 56415326 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr12:56415326G>A uc001sjb.1 + 2 208 c.49G>A c.(49-51)GTT>ATT p.V17I IKZF4_uc010sqa.1_Intron|IKZF4_uc001sjc.1_Missense_Mutation_p.V17I|IKZF4_uc001sjd.1_5'UTR|IKZF4_uc009zoi.1_Intron NM_022465 NP_071910 Q9H2S9 IKZF4_HUMAN zinc finger protein, subfamily 1A, 4 17 negative regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123) CGGCGGCCGCGTTCGCACCCC 0.647000 CAPS2 84698 broad.mit.edu 37 12 75698628 75698628 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr12:75698628A>C uc001sxk.3 - 9 942 c.745T>G c.(745-747)TTA>GTA p.L249V CAPS2_uc001sxm.3_Missense_Mutation_p.L17V|CAPS2_uc009zsa.2_Translation_Start_Site|CAPS2_uc001sxi.3_Missense_Mutation_p.L17V|CAPS2_uc001sxj.3_Missense_Mutation_p.L192V|CAPS2_uc001sxl.3_Missense_Mutation_p.L230V NM_032606 NP_115995 Q9BXY5 CAYP2_HUMAN calcyphosine 2 249 calcium ion binding ovary(2) 2 TCAATGGCTAAATTTTGCTCT 0.313000 NAV3 89795 broad.mit.edu 37 12 78443823 78443823 + Silent SNP T T C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr12:78443823T>C uc001syp.2 + 10 2247 c.2074T>C c.(2074-2076)TTG>CTG p.L692L NAV3_uc001syo.2_Silent_p.L692L|NAV3_uc010sub.1_Silent_p.L192L NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 692 Potential. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 CATAGCAGACTTGAGGCAGAA 0.348000 HNSCC(70;0.22) C12orf50 160419 broad.mit.edu 37 12 88383059 88383059 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr12:88383059T>G uc001tam.1 - 8 850 c.682A>C c.(682-684)AAA>CAA p.K228Q C12orf50_uc001tan.2_Missense_Mutation_p.K282Q NM_152589 NP_689802 Q8NA57 CL050_HUMAN hypothetical protein LOC160419 228 skin(2)|ovary(1) 3 TTTGAACATTTTGATATGGTG 0.313000 FGF9 2254 broad.mit.edu 37 13 22245965 22245965 + Translation_Start_Site SNP G G T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr13:22245965G>T uc001uog.2 + 1 751 c.-86G>T c.(-88--84)GAGGG>GATGG NM_002010 NP_002001 P31371 FGF9_HUMAN fibroblast growth factor 9 precursor cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division extracellular space growth factor activity|heparin binding 0 all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106) all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163) CAGTAAGGGAGGGGAGTTGGA 0.423000 FRY 10129 broad.mit.edu 37 13 32699009 32699009 + Missense_Mutation SNP C C A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr13:32699009C>A uc001utx.2 + 7 1209 c.713C>A c.(712-714)GCC>GAC p.A238D FRY_uc010tdw.1_RNA NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 238 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) TTGGCACAAGCCAAGTAAGTG 0.458000 SMAD9 4093 broad.mit.edu 37 13 37439801 37439801 + Silent SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr13:37439801G>A uc001uvw.2 - 5 1219 c.876C>T c.(874-876)TCC>TCT p.S292S SMAD9_uc001uvx.2_Silent_p.S255S|SMAD9_uc010tep.1_Silent_p.S85S NM_001127217 NP_001120689 O15198 SMAD9_HUMAN SMAD family member 9 isoform a 292 MH2. BMP signaling pathway|transforming growth factor beta receptor signaling pathway cytosol|transcription factor complex sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity 0 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026) CACTTCGGGAGGAAGCCTGGA 0.483000 POSTN 10631 broad.mit.edu 37 13 38158997 38158997 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr13:38158997C>T uc001uwo.3 - 8 1082 c.964G>A c.(964-966)GAG>AAG p.E322K POSTN_uc001uwp.3_Missense_Mutation_p.E322K|POSTN_uc001uwr.2_Missense_Mutation_p.E322K|POSTN_uc001uwq.2_Missense_Mutation_p.E322K|POSTN_uc010teu.1_Missense_Mutation_p.E322K|POSTN_uc010tev.1_Missense_Mutation_p.E322K|POSTN_uc010tew.1_Missense_Mutation_p.E322K|POSTN_uc010tex.1_Missense_Mutation_p.E237K NM_006475 NP_006466 Q15063 POSTN_HUMAN periostin, osteoblast specific factor isoform 1 322 FAS1 2. cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding ovary(2) 2 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) TCCAGCGTCTCAAAGACTGCT 0.373000 SPERT 220082 broad.mit.edu 37 13 46287490 46287490 + Silent SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr13:46287490C>T uc001van.1 + 3 410 c.330C>T c.(328-330)GCC>GCT p.A110A SPERT_uc001vao.2_Silent_p.A74A NM_152719 NP_689932 Q8NA61 SPERT_HUMAN spermatid associated 110 cytoplasmic membrane-bounded vesicle central_nervous_system(1)|pancreas(1) 2 Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;7.26e-05) TGTCCCAGGCCGACCTGGAGC 0.647000 HTR2A 3356 broad.mit.edu 37 13 47409677 47409677 + Silent SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr13:47409677G>A uc001vbq.2 - 3 845 c.711C>T c.(709-711)ATC>ATT p.I237I HTR2A_uc001vbr.2_Silent_p.I137I|HTR2A_uc010acr.2_Silent_p.I237I NM_000621 NP_000612 P28223 5HT2A_HUMAN 5-hydroxytryptamine receptor 2A isoform 1 237 Helical; Name=5; (By similarity). ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission integral to plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333) GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224) Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) CAAAAGAGCCGATCAGGACAA 0.433000 THSD1 55901 broad.mit.edu 37 13 52952250 52952250 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr13:52952250T>G uc001vgo.2 - 5 2400 c.1855A>C c.(1855-1857)AGC>CGC p.S619R THSD1_uc001vgp.2_Missense_Mutation_p.S566R|THSD1_uc010tgz.1_Missense_Mutation_p.S240R|THSD1_uc010aea.2_Missense_Mutation_p.S80R NM_018676 NP_061146 Q9NS62 THSD1_HUMAN thrombospondin type I domain-containing 1 619 Cytoplasmic (Potential). extracellular region|integral to membrane|intracellular membrane-bounded organelle ovary(2)|upper_aerodigestive_tract(1)|skin(1) 4 Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.8e-08) TGGCTGGGGCTTATGGCACAA 0.622000 OR4N2 390429 broad.mit.edu 37 14 20295670 20295670 + Missense_Mutation SNP A A T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr14:20295670A>T uc010tkv.1 + 1 63 c.63A>T c.(61-63)CAA>CAT p.Q21H NM_001004723 NP_001004723 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, 21 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CCCAGTCTCAAGATATTCAGC 0.408000 RNF31 55072 broad.mit.edu 37 14 24617255 24617255 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr14:24617255G>A uc001wmn.1 + 2 512 c.263G>A c.(262-264)AGC>AAC p.S88N PSME2_uc001wmj.2_5'Flank|PSME2_uc001wmk.2_5'Flank|RNF31_uc001wml.1_5'UTR|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_5'UTR|RNF31_uc001wmo.1_5'Flank NM_017999 NP_060469 Q96EP0 RNF31_HUMAN ring finger protein 31 88 Polyubiquitin-binding. CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway CD40 receptor complex|internal side of plasma membrane|LUBAC complex ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding large_intestine(1)|ovary(1) 2 GBM - Glioblastoma multiforme(265;0.00861) AACCTTCTCAGCCCTCAGCGG 0.577000 PRKD1 5587 broad.mit.edu 37 14 30046521 30046521 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr14:30046521T>G uc001wqh.2 - 18 2843 c.2662A>C c.(2662-2664)AGT>CGT p.S888R NM_002742 NP_002733 Q15139 KPCD1_HUMAN protein kinase D1 888 cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity lung(3)|large_intestine(2)|ovary(2)|skin(1) 8 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) TGGCTAGCACTTGGATTGATC 0.522000 AKAP6 9472 broad.mit.edu 37 14 33291387 33291387 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr14:33291387A>C uc001wrq.2 + 13 4538 c.4368A>C c.(4366-4368)GAA>GAC p.E1456D NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 1456 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) GTTTGGGAGAAGAATTACAAG 0.368000 LRFN5 145581 broad.mit.edu 37 14 42360793 42360793 + Missense_Mutation SNP G G T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr14:42360793G>T uc001wvm.2 + 4 2924 c.1726G>T c.(1726-1728)GCT>TCT p.A576S LRFN5_uc010ana.2_Intron NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 576 Cytoplasmic (Potential). integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) AACTAACGGGGCTCAAATACA 0.453000 HNSCC(30;0.082) PTGDR 5729 broad.mit.edu 37 14 52741454 52741454 + Silent SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr14:52741454C>T uc001wzq.2 + 2 954 c.852C>T c.(850-852)CGC>CGT p.R284R NM_000953 NP_000944 Q13258 PD2R_HUMAN prostaglandin D2 receptor 284 Extracellular (Potential). integral to membrane|plasma membrane prostaglandin D receptor activity|protein binding ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 Breast(41;0.0639)|all_epithelial(31;0.0887) Nedocromil(DB00716) AACAGTATCGCGCTTACTATG 0.398000 TTLL5 23093 broad.mit.edu 37 14 76238105 76238105 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr14:76238105G>A uc001xrx.2 + 21 2249 c.2044G>A c.(2044-2046)GCC>ACC p.A682T TTLL5_uc010ask.1_Missense_Mutation_p.A696T|TTLL5_uc001xrz.2_Missense_Mutation_p.A257T|TTLL5_uc001xry.1_RNA NM_015072 NP_055887 Q6EMB2 TTLL5_HUMAN tubulin tyrosine ligase-like family, member 5 682 protein modification process|transcription, DNA-dependent centrosome|cilium|microtubule basal body|nucleus tubulin-tyrosine ligase activity ovary(2)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.029) AGCATTCTCTGCCTATCTCCA 0.443000 C14orf118 55668 broad.mit.edu 37 14 76621146 76621146 + Missense_Mutation SNP T T C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr14:76621146T>C uc001xsh.2 + 2 526 c.440T>C c.(439-441)CTG>CCG p.L147P C14orf118_uc001xsi.2_Missense_Mutation_p.L147P|C14orf118_uc001xsj.1_Missense_Mutation_p.L147P|C14orf118_uc001xsk.1_Missense_Mutation_p.L147P|C14orf118_uc001xsl.2_RNA NM_017926 NP_060396 Q9NWQ4 CN118_HUMAN hypothetical protein LOC55668 isoform 1 147 ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.0172) CAGCAGAAGCTGAAGGTGTCA 0.537000 C14orf177 283598 broad.mit.edu 37 14 99182660 99182660 + Silent SNP T T C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr14:99182660T>C uc001yfz.1 + 3 551 c.132T>C c.(130-132)TCT>TCC p.S44S NM_182560 NP_872366 Q52M58 CN177_HUMAN hypothetical protein LOC283598 44 0 Melanoma(154;0.128) GCCCAAGTTCTCAGCACCTGC 0.527000 OR4N4 283694 broad.mit.edu 37 15 22383400 22383400 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr15:22383400G>A uc001yuc.1 + 7 1909 c.928G>A c.(928-930)GTG>ATG p.V310M LOC727924_uc001yub.1_RNA|OR4N4_uc010tzv.1_Missense_Mutation_p.V310M NM_001005241 NP_001005241 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, 310 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) AGTCTGTCAAGTGGATTTTAT 0.284000 ZNF770 54989 broad.mit.edu 37 15 35275157 35275157 + Missense_Mutation SNP T T A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr15:35275157T>A uc001ziw.2 - 3 790 c.479A>T c.(478-480)CAT>CTT p.H160L NM_014106 NP_054825 Q6IQ21 ZN770_HUMAN zinc finger protein 770 160 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09) all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643) TGTACATGCATGAATATTCTT 0.383000 EHD4 30844 broad.mit.edu 37 15 42211597 42211597 + Missense_Mutation SNP C C A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr15:42211597C>A uc001zot.2 - 4 798 c.735G>T c.(733-735)AAG>AAT p.K245N NM_139265 NP_644670 Q9H223 EHD4_HUMAN EH-domain containing 4 245 endocytic recycling|protein homooligomerization early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding ovary(2) 2 all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538) TGTTGATGACCTTGCCTAGGG 0.637000 SEMA6D 80031 broad.mit.edu 37 15 48055225 48055225 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr15:48055225T>G uc010bek.2 + 9 1031 c.671T>G c.(670-672)CTT>CGT p.L224R SEMA6D_uc001zvw.2_Missense_Mutation_p.L224R|SEMA6D_uc001zvx.1_Missense_Mutation_p.L224R|SEMA6D_uc001zvy.2_Missense_Mutation_p.L224R|SEMA6D_uc001zvz.2_Missense_Mutation_p.L224R|SEMA6D_uc001zwa.2_Missense_Mutation_p.L224R|SEMA6D_uc001zwb.2_Missense_Mutation_p.L224R|SEMA6D_uc001zwc.2_Missense_Mutation_p.L224R NM_153618 NP_705871 Q8NFY4 SEM6D_HUMAN semaphorin 6D isoform 4 precursor 224 Sema.|Extracellular (Potential). axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity skin(3)|breast(1) 4 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) CCACACTTTCTTCATGCCATA 0.358000 SLC12A1 6557 broad.mit.edu 37 15 48594956 48594956 + Silent SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr15:48594956C>T uc001zwn.3 + 27 3390 c.3174C>T c.(3172-3174)CCC>CCT p.P1058P SLC12A1_uc001zwq.3_Silent_p.P829P|SLC12A1_uc001zwr.3_Silent_p.P785P NM_000338 NP_000329 Q13621 S12A1_HUMAN sodium potassium chloride cotransporter 2 1058 Cytoplasmic (Potential). potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity ovary(1)|central_nervous_system(1) 2 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) GGAGCCTTCCCGTGGCAAGAA 0.383000 GLDN 342035 broad.mit.edu 37 15 51687172 51687172 + Silent SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr15:51687172C>T uc002aba.2 + 5 851 c.682C>T c.(682-684)CTG>TTG p.L228L GLDN_uc002abb.2_Silent_p.L104L NM_181789 NP_861454 Q6ZMI3 GLDN_HUMAN gliomedin 228 Extracellular (Potential). cell differentiation|nervous system development collagen|integral to membrane|plasma membrane ovary(2) 2 all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942) CGACGTGCTCCTGGCAGGTAA 0.587000 ZNF280D 54816 broad.mit.edu 37 15 56924164 56924164 + Silent SNP G G T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr15:56924164G>T uc002adu.2 - 22 2689 c.2472C>A c.(2470-2472)ATC>ATA p.I824I uc002ads.2_5'Flank|ZNF280D_uc002adv.2_Silent_p.I811I|ZNF280D_uc010bfq.2_Silent_p.I824I|ZNF280D_uc002adt.2_Silent_p.I65I|ZNF280D_uc010bfp.2_RNA NM_017661 NP_060131 Q6N043 Z280D_HUMAN suppressor of hairy wing homolog 4 isoform 1 824 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1)|skin(1) 3 all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787) CACAACTGACGATGTTTTTTG 0.368000 RORA 6095 broad.mit.edu 37 15 60919479 60919479 + Missense_Mutation SNP C C A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr15:60919479C>A uc002agv.2 - 1 251 c.95G>T c.(94-96)AGA>ATA p.R32I RORA_uc002agw.2_Missense_Mutation_p.R32I|RORA_uc002agx.2_Intron NM_134260 NP_599022 P35398 RORA_HUMAN RAR-related orphan receptor A isoform b 32 Modulating. positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding large_intestine(1)|ovary(1) 2 GGCAGACATTCTGGCCTGTCC 0.373000 ADAMTSL3 57188 broad.mit.edu 37 15 84659886 84659886 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr15:84659886A>C uc002bjz.3 + 23 4117 c.3893A>C c.(3892-3894)CAC>CCC p.H1298P ADAMTSL3_uc010bmt.1_Missense_Mutation_p.H1298P|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.H1298P NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 1298 Ig-like C2-type 3. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1) 27 BRCA - Breast invasive adenocarcinoma(143;0.211) AAACCAGAGCACAACCATCTG 0.458000 MESP2 145873 broad.mit.edu 37 15 90321444 90321444 + Missense_Mutation SNP C C A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr15:90321444C>A uc002bon.2 + 2 1073 c.1073C>A c.(1072-1074)CCG>CAG p.P358Q MESP2_uc010uqa.1_Missense_Mutation_p.P60Q NM_001039958 NP_001035047 Q0VG99 MESP2_HUMAN mesoderm posterior 2 homolog 358 Notch signaling pathway nucleus DNA binding 0 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514) GACCAGGGACCGGGCGCCGCC 0.657000 RAB11FIP3 9727 broad.mit.edu 37 16 511421 511421 + Missense_Mutation SNP G G C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr16:511421G>C uc002chf.2 + 2 1071 c.732G>C c.(730-732)AAG>AAC p.K244N NM_014700 NP_055515 O75154 RFIP3_HUMAN rab11-family interacting protein 3 isoform 1 244 EF-hand 2. cell cycle|cytokinesis|endocytic recycling|protein transport centrosome|cleavage furrow|midbody|recycling endosome membrane ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding 0 Hepatocellular(16;0.0218) ACTTAACTAAGTACTTGGATC 0.398000 HS3ST2 9956 broad.mit.edu 37 16 22926778 22926778 + Silent SNP T T C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr16:22926778T>C uc002dli.2 + 2 1071 c.999T>C c.(997-999)ACT>ACC p.T333T HS3ST2_uc002dlj.2_RNA NM_006043 NP_006034 Q9Y278 HS3S2_HUMAN heparan sulfate D-glucosaminyl 333 PAPS and substrate (By similarity).|Lumenal (Potential). Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 2 activity ovary(1)|pancreas(1) 2 GBM - Glioblastoma multiforme(48;0.0299) AAGGGAGAACTCATGTACAGA 0.423000 PRKCB 5579 broad.mit.edu 37 16 24104114 24104114 + Silent SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr16:24104114A>C uc002dmd.2 + 6 729 c.532A>C c.(532-534)AGA>CGA p.R178R PRKCB_uc002dme.2_Silent_p.R178R NM_212535 NP_997700 P05771 KPCB_HUMAN protein kinase C, beta isoform 1 178 C2. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1) 9 Vitamin E(DB00163) TTTTTCAGTAAGAGATGCTAA 0.418000 TMEM231 79583 broad.mit.edu 37 16 75575315 75575315 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr16:75575315C>T uc002fem.2 - 6 766 c.703G>A c.(703-705)GTG>ATG p.V235M CHST5_uc002fej.1_Intron|TMEM231_uc002fek.2_Missense_Mutation_p.V264M|TMEM231_uc002fel.2_Missense_Mutation_p.V119M|TMEM231_uc010vne.1_Missense_Mutation_p.V88M|TMEM231_uc010cgx.1_Missense_Mutation_p.V199M NM_001077418 NP_001070886 Q9H6L2 TM231_HUMAN transmembrane protein 231 isoform 2 235 integral to membrane 0 GCCCTGCCCACCAGCCAGATG 0.453000 ADAMTS18 170692 broad.mit.edu 37 16 77334269 77334269 + Silent SNP A A T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr16:77334269A>T uc002ffc.3 - 17 2984 c.2565T>A c.(2563-2565)GCT>GCA p.A855A ADAMTS18_uc010chc.1_Silent_p.A443A|ADAMTS18_uc002ffe.1_Silent_p.A551A NM_199355 NP_955387 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 855 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1) 18 CATACTTCCAAGCTATCCCTG 0.458000 OR1E1 8387 broad.mit.edu 37 17 3301149 3301149 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr17:3301149T>G uc002fvj.1 - 1 556 c.556A>C c.(556-558)AAG>CAG p.K186Q NM_003553 NP_003544 P30953 OR1E1_HUMAN olfactory receptor, family 1, subfamily E, 186 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AAGGCCAGCTTCAGCAGAGCA 0.463000 TRPV1 7442 broad.mit.edu 37 17 3495503 3495503 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr17:3495503G>A uc010vrr.1 - 1 669 c.142C>T c.(142-144)CGG>TGG p.R48W TRPV1_uc010vro.1_Missense_Mutation_p.R48W|TRPV1_uc010vrp.1_Missense_Mutation_p.R48W|TRPV1_uc010vrq.1_Silent_p.P22P|TRPV1_uc010vrs.1_Missense_Mutation_p.R48W|TRPV1_uc010vrt.1_Missense_Mutation_p.R48W|TRPV1_uc010vru.1_Missense_Mutation_p.R48W NM_080706 NP_542437 Q8NER1 TRPV1_HUMAN transient receptor potential cation channel, 48 Cytoplasmic (Potential). cell surface receptor linked signaling pathway|chemosensory behavior|thermoception cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane ATP binding|calcium channel activity|calmodulin binding ovary(1) 1 Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131) Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159) CCAAAGAGCCGGGTGCGGCTC 0.642000 C17orf74 201243 broad.mit.edu 37 17 7330106 7330106 + Nonsense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr17:7330106C>T uc002ggw.2 + 3 869 c.796C>T c.(796-798)CGA>TGA p.R266* FGF11_uc010vtw.1_Intron NM_175734 NP_783861 Q0P670 CQ074_HUMAN hypothetical protein LOC201243 266 integral to membrane 0 Prostate(122;0.157) TTCCCAATCCCGACTGTGGGG 0.662000 TP53 7157 broad.mit.edu 37 17 7577022 7577022 + Nonsense_Mutation SNP G G A rs121913344 TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr17:7577022G>A uc002gim.2 - 8 1110 c.916C>T c.(916-918)CGA>TGA p.R306* TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.R306*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R174*|TP53_uc010cng.1_Nonsense_Mutation_p.R174*|TP53_uc002gii.1_Nonsense_Mutation_p.R174*|TP53_uc010cnh.1_Nonsense_Mutation_p.R306*|TP53_uc010cni.1_Nonsense_Mutation_p.R306*|TP53_uc002gij.2_Nonsense_Mutation_p.R306* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 306 Bipartite nuclear localization signal.|Interaction with HIPK1 (By similarity).|Interaction with CARM1. R -> Q (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R306*(99)|p.0?(7)|p.?(3)|p.R306R(2)|p.R306fs*39(2)|p.K305fs*1(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TGCTTACCTCGCTTAGTGCTC 0.562000 R306*(MFE296_ENDOMETRIUM)|R306*(HCC1937_BREAST)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) RCVRN 5957 broad.mit.edu 37 17 9808171 9808171 + Silent SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr17:9808171G>A uc002gme.1 - 1 514 c.327C>T c.(325-327)TAC>TAT p.Y109Y NM_002903 NP_002894 P35243 RECO_HUMAN recoverin 109 EF-hand 3. visual perception calcium ion binding|calcium sensitive guanylate cyclase activator activity 0 CGTCCACGTCGTAGAGGGAGA 0.617000 MYH4 4622 broad.mit.edu 37 17 10346803 10346803 + Silent SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr17:10346803G>A uc002gmn.2 - 40 5820 c.5709C>T c.(5707-5709)CTC>CTT p.L1903L uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 1903 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 GCTCGTGCTGGAGCTTGCGGA 0.468000 PIGL 9487 broad.mit.edu 37 17 16221220 16221220 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr17:16221220A>C uc002gpv.2 + 6 690 c.658A>C c.(658-660)AAG>CAG p.K220Q NM_004278 NP_004269 Q9Y2B2 PIGL_HUMAN phosphatidylinositol glycan anchor biosynthesis, 220 Cytoplasmic (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane N-acetylglucosaminylphosphatidylinositol deacetylase activity 0 UCEC - Uterine corpus endometrioid carcinoma (92;0.0934) GGCACAGGCCAAGGTGAGGAT 0.542000 CYTSB 92521 broad.mit.edu 37 17 19999988 19999988 + Nonsense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr17:19999988G>A uc002gwq.2 + 2 169 c.24G>A c.(22-24)TGG>TGA p.W8* CYTSB_uc010cqx.2_Nonsense_Mutation_p.W8*|CYTSB_uc002gwr.2_Nonsense_Mutation_p.W8*|CYTSB_uc002gws.2_Nonsense_Mutation_p.W8* NM_001033553 NP_001028725 Q5M775 CYTSB_HUMAN spectrin domain with coiled-coils 1 NSP5b3b 8 nucleus 0 CCAAGCCCTGGAACCCAGCCA 0.567000 VTN 7448 broad.mit.edu 37 17 26695926 26695926 + Missense_Mutation SNP A A G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr17:26695926A>G uc002hbc.2 - 5 942 c.793T>C c.(793-795)TAC>CAC p.Y265H SARM1_uc010wah.1_Intron|SEBOX_uc010crk.1_5'Flank|SARM1_uc010waj.1_Intron NM_000638 NP_000629 P04004 VTNC_HUMAN vitronectin precursor 265 Hemopexin-like 3. cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion alphav-beta3 integrin-vitronectin complex|extracellular space heparin binding|integrin binding|scavenger receptor activity ovary(1)|kidney(1) 2 all_lung(13;0.000533)|Lung NSC(42;0.00171) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) Urokinase(DB00013) CGGCCACTGTAGCTATGGGCA 0.577000 TMEM132E 124842 broad.mit.edu 37 17 32953468 32953468 + Silent SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr17:32953468C>T uc002hif.2 + 2 718 c.390C>T c.(388-390)ATC>ATT p.I130I NM_207313 NP_997196 Q6IEE7 T132E_HUMAN transmembrane protein 132E precursor 130 Extracellular (Potential). integral to membrane central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(366;0.231) GGGCCTTCATCGTCCGCTCGC 0.701000 AP2B1 163 broad.mit.edu 37 17 33951554 33951554 + Missense_Mutation SNP A A T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr17:33951554A>T uc002hjr.2 + 6 853 c.664A>T c.(664-666)ATC>TTC p.I222F AP2B1_uc002hjq.2_Missense_Mutation_p.I222F|AP2B1_uc010wci.1_Missense_Mutation_p.I184F|AP2B1_uc002hjs.2_Missense_Mutation_p.I165F|AP2B1_uc002hjt.2_Missense_Mutation_p.I222F|AP2B1_uc010ctv.2_Missense_Mutation_p.I222F|AP2B1_uc010wcj.1_5'UTR NM_001282 NP_001273 P63010 AP2B1_HUMAN adaptor-related protein complex 2, beta 1 222 axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane clathrin binding|protein transporter activity ovary(1) 1 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) CCAGATTTTCATCCTGGACTG 0.468000 KCNH4 23415 broad.mit.edu 37 17 40315668 40315668 + Silent SNP G G C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr17:40315668G>C uc002hzb.2 - 13 2766 c.2433C>G c.(2431-2433)CTC>CTG p.L811L NM_012285 NP_036417 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H, 811 Cytoplasmic (Potential). regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity large_intestine(1) 1 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) GTGGGGGAATGAGAAGCTGAG 0.652000 UBE2Z 65264 broad.mit.edu 37 17 46998578 46998578 + Missense_Mutation SNP C C G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr17:46998578C>G uc002ioi.2 + 5 846 c.747C>G c.(745-747)ATC>ATG p.I249M NM_023079 NP_075567 Q9H832 UBE2Z_HUMAN ubiquitin-conjugating enzyme E2Z 249 apoptosis cytoplasm|nucleus ATP binding|ubiquitin-protein ligase activity 0 ACGAGACCATCAGAGTTGCAG 0.448000 CACNA1G 8913 broad.mit.edu 37 17 48646631 48646631 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr17:48646631C>T uc002irk.1 + 3 832 c.460C>T c.(460-462)CGG>TGG p.R154W CACNA1G_uc002iri.1_Missense_Mutation_p.R154W|CACNA1G_uc002irj.1_Missense_Mutation_p.R154W|CACNA1G_uc002irl.1_Missense_Mutation_p.R154W|CACNA1G_uc002irm.1_Missense_Mutation_p.R154W|CACNA1G_uc002irn.1_Missense_Mutation_p.R154W|CACNA1G_uc002iro.1_Missense_Mutation_p.R154W|CACNA1G_uc002irp.1_Missense_Mutation_p.R154W|CACNA1G_uc002irq.1_Missense_Mutation_p.R154W|CACNA1G_uc002irr.1_Missense_Mutation_p.R154W|CACNA1G_uc002irs.1_Missense_Mutation_p.R154W|CACNA1G_uc002irt.1_Missense_Mutation_p.R154W|CACNA1G_uc002irv.1_Missense_Mutation_p.R154W|CACNA1G_uc002irw.1_Missense_Mutation_p.R154W|CACNA1G_uc002iru.1_Missense_Mutation_p.R154W|CACNA1G_uc002irx.1_Missense_Mutation_p.R67W|CACNA1G_uc002iry.1_Missense_Mutation_p.R67W|CACNA1G_uc002irz.1_Missense_Mutation_p.R67W|CACNA1G_uc002isa.1_Missense_Mutation_p.R67W|CACNA1G_uc002isb.1_Missense_Mutation_p.R67W|CACNA1G_uc002isc.1_Missense_Mutation_p.R67W|CACNA1G_uc002isd.1_Missense_Mutation_p.R67W|CACNA1G_uc002ise.1_Missense_Mutation_p.R67W|CACNA1G_uc002isf.1_Missense_Mutation_p.R67W|CACNA1G_uc002isg.1_Missense_Mutation_p.R67W|CACNA1G_uc002ish.1_Missense_Mutation_p.R67W|CACNA1G_uc002isi.1_Missense_Mutation_p.R67W NM_018896 NP_061496 O43497 CAC1G_HUMAN voltage-dependent calcium channel alpha 1G 154 I.|Helical; Name=S3 of repeat I; (Potential). axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(1) 1 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) CACTTGGAACCGGCTTGACTT 0.562000 TLK2 11011 broad.mit.edu 37 17 60637416 60637416 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr17:60637416A>C uc010ddp.2 + 10 1028 c.760A>C c.(760-762)AAG>CAG p.K254Q TLK2_uc002izx.3_Missense_Mutation_p.K102Q|TLK2_uc002izz.3_Missense_Mutation_p.K254Q|TLK2_uc002jaa.3_Missense_Mutation_p.K222Q|TLK2_uc010wpd.1_Missense_Mutation_p.K222Q NM_006852 NP_006843 Q86UE8 TLK2_HUMAN tousled-like kinase 2 isoform A 254 Potential. cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity stomach(1)|kidney(1) 2 TGAACAGCAAAAGATGCTAGA 0.343000 EVPL 2125 broad.mit.edu 37 17 74006521 74006521 + Missense_Mutation SNP T T A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr17:74006521T>A uc002jqi.2 - 22 2993 c.2765A>T c.(2764-2766)GAA>GTA p.E922V EVPL_uc010wss.1_Missense_Mutation_p.E944V|EVPL_uc010wst.1_Missense_Mutation_p.E392V NM_001988 NP_001979 Q92817 EVPL_HUMAN envoplakin 922 Central fibrous rod domain.|Potential. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity pancreas(2)|central_nervous_system(1)|skin(1) 4 CCTCTCCTCTTCCAGCTGGGC 0.652000 ENPP7 339221 broad.mit.edu 37 17 77708875 77708875 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr17:77708875G>A uc002jxa.2 + 3 453 c.433G>A c.(433-435)GGG>AGG p.G145R NM_178543 NP_848638 Q6UWV6 ENPP7_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 145 negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process Golgi apparatus|integral to membrane|microvillus sphingomyelin phosphodiesterase activity central_nervous_system(2)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224) CTACCCGGGCGGGAACGTCAC 0.592000 LAMA1 284217 broad.mit.edu 37 18 6943298 6943298 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr18:6943298T>G uc002knm.2 - 62 9042 c.8948A>C c.(8947-8949)AAC>ACC p.N2983T LAMA1_uc002knk.2_Missense_Mutation_p.N313T|LAMA1_uc002knl.2_Missense_Mutation_p.N436T|LAMA1_uc010wzj.1_Missense_Mutation_p.N2459T NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 2983 Laminin G-like 5. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TTTGCTTTTGTTAGCTTGAAG 0.488000 LAMA1 284217 broad.mit.edu 37 18 7034595 7034595 + Missense_Mutation SNP A A T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr18:7034595A>T uc002knm.2 - 14 2028 c.1934T>A c.(1933-1935)TTC>TAC p.F645Y LAMA1_uc010wzj.1_Missense_Mutation_p.F121Y NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 645 Laminin IV type A 1. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AAAATCTTGGAAGTTTTCAGG 0.448000 LAMA3 3909 broad.mit.edu 37 18 21357584 21357584 + Splice_Site SNP G G T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr18:21357584G>T uc002kuq.2 + 11 1554 c.1468_splice c.e11+1 p.G490_splice LAMA3_uc010dlv.1_Splice_Site_p.G490_splice|LAMA3_uc002kur.2_Splice_Site_p.G490_splice NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|skin(2)|central_nervous_system(1) 11 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GATATAAAAGGCAAGTAACCT 0.388000 RIT2 6014 broad.mit.edu 37 18 40323528 40323528 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr18:40323528A>C uc002lav.2 - 5 757 c.584T>G c.(583-585)CTG>CGG p.L195R RIT2_uc010dnf.2_3'UTR NM_002930 NP_002921 Q99578 RIT2_HUMAN Ras-like without CAAX 2 195 nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission intracellular|plasma membrane calmodulin binding|GTP binding|GTPase activity ovary(1) 1 TTTTCTCTTCAGTTTCTTTTC 0.423000 PIAS2 9063 broad.mit.edu 37 18 44470842 44470842 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr18:44470842C>T uc002lck.2 - 2 358 c.200G>A c.(199-201)CGA>CAA p.R67Q PIAS2_uc010dnp.2_5'UTR|PIAS2_uc002lcl.2_Missense_Mutation_p.R67Q|PIAS2_uc010xda.1_Intron|PIAS2_uc002lcm.2_Missense_Mutation_p.R67Q|PIAS2_uc002lcn.1_Missense_Mutation_p.R71Q NM_004671 NP_004662 O75928 PIAS2_HUMAN protein inhibitor of activated STAT X isoform 67 androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|PML body androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding ovary(2)|breast(1)|skin(1) 4 TTCAAGAGTTCGTGGATATCG 0.478000 LASS4 79603 broad.mit.edu 37 19 8326872 8326872 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr19:8326872C>T uc002mjg.2 + 12 1384 c.1064C>T c.(1063-1065)GCG>GTG p.A355V LASS4_uc002mjh.2_Missense_Mutation_p.A304V|LASS4_uc002mji.2_Missense_Mutation_p.A191V|LASS4_uc010dvz.2_Missense_Mutation_p.A267V NM_024552 NP_078828 Q9HA82 CERS4_HUMAN LAG1 homolog, ceramide synthase 4 355 endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity ovary(1) 1 GAGGCGGCGGCGGCCCAGGAA 0.632000 COL5A3 50509 broad.mit.edu 37 19 10071440 10071440 + Nonsense_Mutation SNP C C A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr19:10071440C>A uc002mmq.1 - 66 5064 c.4978G>T c.(4978-4980)GAA>TAA p.E1660* NM_015719 NP_056534 P25940 CO5A3_HUMAN collagen, type V, alpha 3 preproprotein 1660 Fibrillar collagen NC1. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent ovary(7)|lung(1)|central_nervous_system(1)|skin(1) 10 Epithelial(33;7.11e-05) CCCGTGGCTTCGTCCAGCCAG 0.592000 ELAVL3 1995 broad.mit.edu 37 19 11577597 11577597 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr19:11577597C>T uc002mry.1 - 2 435 c.55G>A c.(55-57)GGC>AGC p.G19S ELAVL3_uc002mrx.1_Missense_Mutation_p.G19S NM_001420 NP_001411 Q14576 ELAV3_HUMAN ELAV-like protein 3 isoform 1 19 cell differentiation|nervous system development AU-rich element binding|nucleotide binding ovary(1)|breast(1)|skin(1) 3 Agggccgggccggccgggccc 0.522000 CILP2 148113 broad.mit.edu 37 19 19655402 19655402 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr19:19655402C>T uc002nmv.3 + 8 2133 c.2048C>T c.(2047-2049)TCG>TTG p.S683L CILP2_uc002nmw.3_Missense_Mutation_p.S689L NM_153221 NP_694953 Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 683 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity ovary(1) 1 AAGCTGTGGTCGCTGAACCCC 0.746000 ZNF626 199777 broad.mit.edu 37 19 20808024 20808024 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr19:20808024T>G uc002npb.1 - 4 809 c.659A>C c.(658-660)AAG>ACG p.K220T ZNF626_uc002npc.1_Missense_Mutation_p.K144T NM_001076675 NP_001070143 Q68DY1 ZN626_HUMAN zinc finger protein 626 isoform 1 220 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 ATGAATTTTCTTATGTCTAGT 0.383000 ZNF85 7639 broad.mit.edu 37 19 21117821 21117821 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr19:21117821A>C uc002npg.3 + 3 324 c.197A>C c.(196-198)AAG>ACG p.K66T ZNF85_uc002npf.2_RNA|ZNF85_uc002nph.1_RNA|ZNF85_uc010ecn.2_Intron|ZNF85_uc010eco.2_5'Flank|ZNF85_uc002npi.2_5'Flank NM_003429 NP_003420 Q03923 ZNF85_HUMAN zinc finger protein 85 66 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding central_nervous_system(1) 1 TGGAGTATGAAGAGACATGAG 0.413000 ZNF99 7652 broad.mit.edu 37 19 22941160 22941160 + Silent SNP A A G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr19:22941160A>G uc010xrh.1 - 5 1278 c.1278T>C c.(1276-1278)GCT>GCC p.A426A 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) AATGCTTAAAAGCTTTGCCAC 0.343000 LRFN3 79414 broad.mit.edu 37 19 36430970 36430970 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr19:36430970C>T uc002oco.2 + 2 1095 c.643C>T c.(643-645)CGC>TGC p.R215C NM_024509 NP_078785 Q9BTN0 LRFN3_HUMAN leucine rich repeat and fibronectin type III 215 Extracellular (Potential).|LRR 7. cell adhesion axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane 0 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GACCTCCAACCGCCTGACCAC 0.697000 WDR62 284403 broad.mit.edu 37 19 36583682 36583682 + Missense_Mutation SNP A A G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr19:36583682A>G uc002odc.2 + 19 2393 c.2302A>G c.(2302-2304)ACA>GCA p.T768A WDR62_uc002odd.2_Missense_Mutation_p.T768A NM_173636 NP_775907 O43379 WDR62_HUMAN WD repeat domain 62 isoform 2 768 cerebral cortex development nucleus 0 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GCAGCAGCACACAAATGACAA 0.537000 ZNF529 57711 broad.mit.edu 37 19 37037814 37037814 + Missense_Mutation SNP A A G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr19:37037814A>G uc002oeh.3 - 5 1848 c.1646T>C c.(1645-1647)CTT>CCT p.L549P ZNF529_uc010xth.1_Missense_Mutation_p.L549P|ZNF529_uc010xti.1_Missense_Mutation_p.L531P|ZNF529_uc002oeg.3_Missense_Mutation_p.L444P NM_020951 NP_066002 Q6P280 ZN529_HUMAN zinc finger protein 529 isoform a 516 C2H2-type 12; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Esophageal squamous(110;0.198) TTGGCAAGTAAGATGCCCAAC 0.353000 ZNF382 84911 broad.mit.edu 37 19 37117657 37117657 + Silent SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr19:37117657T>G uc002oek.2 + 5 971 c.858T>G c.(856-858)CCT>CCG p.P286P ZNF382_uc010efa.2_Silent_p.P237P|ZNF382_uc010efb.2_Silent_p.P285P|ZNF382_uc002oel.2_Silent_p.P285P NM_032825 NP_116214 Q96SR6 ZN382_HUMAN zinc finger protein 382 286 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) TTATTATGCCTCAGAGACCTC 0.418000 RYR1 6261 broad.mit.edu 37 19 38966081 38966081 + Silent SNP C C T rs139622869 TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr19:38966081C>T uc002oit.2 + 29 4414 c.4284C>T c.(4282-4284)AAC>AAT p.N1428N RYR1_uc002oiu.2_Silent_p.N1428N NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 1428 Cytoplasmic.|B30.2/SPRY 3.|6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TCATCCTCAACACCACCACGG 0.597000 PAF1 54623 broad.mit.edu 37 19 39876874 39876874 + Silent SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr19:39876874C>T uc002old.2 - 14 1528 c.1353G>A c.(1351-1353)GAG>GAA p.E451E PAF1_uc002ole.1_Intron NM_019088 NP_061961 Q8N7H5 PAF1_HUMAN Paf1, RNA polymerase II associated factor, 451 Glu-rich. histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent Cdc73/Paf1 complex protein binding pancreas(1) 1 all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|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) CAAAGATCTCCTCTTTGTCAC 0.582000 TIMM50 92609 broad.mit.edu 37 19 39980387 39980387 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr19:39980387C>T uc002olu.1 + 11 1431 c.1298C>T c.(1297-1299)TCC>TTC p.S433F TIMM50_uc002olt.1_RNA|TIMM50_uc002olv.1_Missense_Mutation_p.S132F NM_001001563 NP_001001563 Q3ZCQ8 TIM50_HUMAN translocase of inner mitochondrial membrane 50 330 Mitochondrial intermembrane (Potential). mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding ovary(1) 1 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) GCCGAGCTCTCCAAGTCCAAC 0.632000 FCGBP 8857 broad.mit.edu 37 19 40392045 40392045 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr19:40392045C>T uc002omp.3 - 17 8349 c.8341G>A c.(8341-8343)GTG>ATG p.V2781M NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 2781 Cys-rich.|TIL 6. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TGGATGGGCACGCAGGCTTGG 0.607000 FCGBP 8857 broad.mit.edu 37 19 40433051 40433051 + Silent SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr19:40433051C>T uc002omp.3 - 2 1226 c.1218G>A c.(1216-1218)ACG>ACA p.T406T NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 406 IgGFc-binding. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TGGCCTCGGCCGTGTGGATCA 0.592000 GRIK5 2901 broad.mit.edu 37 19 42509893 42509893 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr19:42509893C>T uc002osj.1 - 16 2280 c.2245G>A c.(2245-2247)GGC>AGC p.G749S GRIK5_uc002osi.1_Missense_Mutation_p.G321S NM_002088 NP_002079 Q16478 GRIK5_HUMAN glutamate receptor KA2 precursor 749 Extracellular (Potential). cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity 0 Prostate(69;0.059) L-Glutamic Acid(DB00142) ATGCCAATGCCGTAGCCCTTG 0.647000 BCAM 4059 broad.mit.edu 37 19 45321843 45321843 + Silent SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr19:45321843C>T uc002ozu.2 + 9 1187 c.1143C>T c.(1141-1143)GTC>GTT p.V381V BCAM_uc002ozt.1_Silent_p.V381V NM_005581 NP_005572 P50895 BCAM_HUMAN basal cell adhesion molecule isoform 1 381 Extracellular (Potential).|Ig-like C2-type 2. cell-matrix adhesion integral to plasma membrane laminin binding|laminin receptor activity skin(1) 1 Lung NSC(12;0.000789)|all_lung(12;0.00218) Ovarian(192;0.0728)|all_neural(266;0.112) GCAGTGCAGTCGTGAACTGCT 0.647000 ZNF577 84765 broad.mit.edu 37 19 52376330 52376330 + Silent SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr19:52376330T>G uc010yde.1 - 7 1304 c.913A>C c.(913-915)AGA>CGA p.R305R ZNF577_uc010ydd.1_Intron|ZNF577_uc002pxx.3_Silent_p.R246R|ZNF577_uc002pxv.2_Silent_p.R298R|ZNF577_uc002pxw.2_Silent_p.R239R NM_032679 NP_116068 Q9BSK1 ZN577_HUMAN zinc finger protein 577 isoform a 305 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019) TAGAAGGTTCTTCCACAATCA 0.433000 VN1R4 317703 broad.mit.edu 37 19 53770759 53770759 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr19:53770759A>C uc010ydu.1 - 1 160 c.160T>G c.(160-162)TTC>GTC p.F54V NM_173857 NP_776256 Q7Z5H5 VN1R4_HUMAN vomeronasal 1 receptor 4 54 Helical; Name=2; (Potential). response to pheromone actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane pheromone receptor activity ovary(2) 2 GBM - Glioblastoma multiforme(134;0.00294) AGAGCTAAGAAGTTGGCTACA 0.453000 HNSCC(26;0.072) ZNF835 90485 broad.mit.edu 37 19 57175393 57175393 + Missense_Mutation SNP A A T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr19:57175393A>T uc010ygo.1 - 2 1240 c.1240T>A c.(1240-1242)TGC>AGC p.C414S ZNF835_uc010ygn.1_Missense_Mutation_p.C392S NM_001005850 NP_001005850 zinc finger protein 835 pancreas(3)|skin(1) 4 CATTGCAGGCACCTGTAGGGC 0.662000 NBAS 51594 broad.mit.edu 37 2 15307367 15307367 + Silent SNP G G C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr2:15307367G>C uc002rcc.1 - 52 6947 c.6921C>G c.(6919-6921)CCC>CCG p.P2307P NBAS_uc002rcb.1_Silent_p.P147P|NBAS_uc010exl.1_Silent_p.P1379P|NBAS_uc002rcd.1_RNA NM_015909 NP_056993 A2RRP1 NBAS_HUMAN neuroblastoma-amplified protein 2307 ovary(2)|liver(1)|skin(1) 4 GTGGATAGAAGGGAGTGGAGA 0.547000 TTC27 55622 broad.mit.edu 37 2 33036126 33036126 + Silent SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr2:33036126G>A uc002rom.2 + 17 2265 c.2034G>A c.(2032-2034)GGG>GGA p.G678G TTC27_uc010ymx.1_Silent_p.G628G|TTC27_uc002ron.2_RNA NM_017735 NP_060205 Q6P3X3 TTC27_HUMAN tetratricopeptide repeat domain 27 678 protein binding central_nervous_system(1) 1 TGATTGATGGGATGACTGATC 0.398000 SLC8A1 6546 broad.mit.edu 37 2 40657171 40657171 + Missense_Mutation SNP C C A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr2:40657171C>A uc002rrx.2 - 1 274 c.250G>T c.(250-252)GCC>TCC p.A84S SLC8A1_uc002rry.2_Missense_Mutation_p.A84S|SLC8A1_uc002rrz.2_Missense_Mutation_p.A84S|SLC8A1_uc002rsa.2_Missense_Mutation_p.A84S|SLC8A1_uc002rsd.3_Missense_Mutation_p.A84S|SLC8A1_uc002rsb.1_Missense_Mutation_p.A84S|SLC8A1_uc010fan.1_Missense_Mutation_p.A84S|SLC8A1_uc002rsc.1_Missense_Mutation_p.A84S NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 84 Helical; (Potential). cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) TAGACCATGGCCACAAAATAC 0.398000 REG3G 130120 broad.mit.edu 37 2 79255359 79255359 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr2:79255359A>C uc002snw.2 + 6 570 c.485A>C c.(484-486)AAC>ACC p.N162T REG3G_uc002snx.2_Missense_Mutation_p.N162T|REG3G_uc010ffu.2_Missense_Mutation_p.N116T NM_198448 NP_940850 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma precursor 162 C-type lectin. acute-phase response extracellular region sugar binding 0 AAAGATTATAACTGTGATGCA 0.493000 LYG2 254773 broad.mit.edu 37 2 99860569 99860569 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr2:99860569G>A uc002szw.1 - 5 526 c.413C>T c.(412-414)GCC>GTC p.A138V MRPL30_uc002szl.1_Intron|LYG2_uc010fip.1_Missense_Mutation_p.A138V|LYG2_uc002szx.1_Missense_Mutation_p.A138V NM_175735 NP_783862 Q86SG7 LYG2_HUMAN lysozyme G-like 2 precursor 138 cell wall macromolecule catabolic process|peptidoglycan catabolic process extracellular region lysozyme activity ovary(1) 1 GCTATCCCAGGCACCGACAGG 0.428000 AFF3 3899 broad.mit.edu 37 2 100368730 100368730 + Nonsense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr2:100368730G>A uc002tag.2 - 8 1191 c.955C>T c.(955-957)CAA>TAA p.Q319* AFF3_uc002taf.2_Nonsense_Mutation_p.Q344*|AFF3_uc010fiq.1_Nonsense_Mutation_p.Q319*|AFF3_uc010yvr.1_Nonsense_Mutation_p.Q473*|AFF3_uc002tah.1_Nonsense_Mutation_p.Q344*|AFF3_uc010fir.1_Nonsense_Mutation_p.Q396* NM_002285 NP_002276 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 isoform 1 319 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1) 6 CCAGGTGCTTGAATAGCAGAA 0.408000 RANBP2 5903 broad.mit.edu 37 2 109347834 109347834 + Silent SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr2:109347834G>A uc002tem.3 + 4 435 c.309G>A c.(307-309)TTG>TTA p.L103L NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 103 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 TTGCAGAATTGCTTTGTAAAA 0.323000 RANBP2 5903 broad.mit.edu 37 2 109356991 109356991 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr2:109356991G>A uc002tem.3 + 7 955 c.829G>A c.(829-831)GAA>AAA p.E277K NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 277 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 TGGAAATGATGAACTGTCAGC 0.363000 MCM6 4175 broad.mit.edu 37 2 136626249 136626249 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr2:136626249G>A uc002tuw.2 - 4 623 c.547C>T c.(547-549)CCA>TCA p.P183S NM_005915 NP_005906 Q14566 MCM6_HUMAN minichromosome maintenance complex component 6 183 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|identical protein binding 0 BRCA - Breast invasive adenocarcinoma(221;0.166) Atorvastatin(DB01076) GCACAAACTGGATTTCGGCAG 0.393000 THSD7B 80731 broad.mit.edu 37 2 138320844 138320844 + Silent SNP A A G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr2:138320844A>G uc002tva.1 + 15 3105 c.3105A>G c.(3103-3105)GTA>GTG p.V1035V THSD7B_uc010zbj.1_Intron NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) CCTGGGTTGTAGAACACTGGT 0.433000 LRP1B 53353 broad.mit.edu 37 2 141598520 141598520 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr2:141598520T>G uc002tvj.1 - 30 6053 c.5081A>C c.(5080-5082)AAG>ACG p.K1694T NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1694 Extracellular (Potential).|LDL-receptor class B 15. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ACACTGTGGCTTATCGATTCC 0.353000 TSP Lung(27;0.18) SCN2A 6326 broad.mit.edu 37 2 166210751 166210751 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr2:166210751A>C uc002udc.2 + 17 3259 c.2969A>C c.(2968-2970)AAT>ACT p.N990T SCN2A_uc002udd.2_Missense_Mutation_p.N990T|SCN2A_uc002ude.2_Missense_Mutation_p.N990T NM_001040142 NP_001035232 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha 990 II. myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|breast(1)|pancreas(1) 8 Lamotrigine(DB00555) AGTTCTGACAATCTTGCTGCC 0.383000 CSRNP3 80034 broad.mit.edu 37 2 166535567 166535567 + Silent SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr2:166535567C>T uc002udf.2 + 7 1438 c.1062C>T c.(1060-1062)AGC>AGT p.S354S CSRNP3_uc002udg.2_Silent_p.S354S NM_024969 NP_079245 Q8WYN3 CSRN3_HUMAN cysteine-serine-rich nuclear protein 3 354 Glu-rich. apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|large_intestine(1)|skin(1) 5 GCTTTTGCAGCGGAGTCACAG 0.438000 TTN 7273 broad.mit.edu 37 2 179431873 179431873 + Missense_Mutation SNP G G C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr2:179431873G>C uc010zfg.1 - 275 71506 c.71282C>G c.(71281-71283)ACC>AGC p.T23761S uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T17456S|TTN_uc010zfi.1_Missense_Mutation_p.T17389S|TTN_uc010zfj.1_Missense_Mutation_p.T17264S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 24688 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) AAGTCGACTGGTTTCTCGCTT 0.403000 TTN 7273 broad.mit.edu 37 2 179498022 179498022 + Silent SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr2:179498022G>A uc010zfg.1 - 182 35498 c.35274C>T c.(35272-35274)TAC>TAT p.Y11758Y TTN_uc010zfh.1_Silent_p.Y5453Y|TTN_uc010zfi.1_Silent_p.Y5386Y|TTN_uc010zfj.1_Silent_p.Y5261Y NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 12685 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) CCTCTACTCCGTACAGAGGCT 0.408000 TTN 7273 broad.mit.edu 37 2 179560121 179560121 + Missense_Mutation SNP T T A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr2:179560121T>A uc010zfg.1 - 112 27716 c.27492A>T c.(27490-27492)AAA>AAT p.K9164N TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K5825N|TTN_uc010fre.1_Missense_Mutation_p.K275N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 10091 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) TGGCTGGAACTTTTCTCTCAT 0.343000 TTN 7273 broad.mit.edu 37 2 179593353 179593353 + Missense_Mutation SNP T T C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr2:179593353T>C uc010zfg.1 - 63 15792 c.15568A>G c.(15568-15570)AGT>GGT p.S5190G TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S1851G NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 6117 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) TTTTCAAAACTCATTGAAAAG 0.418000 KCTD18 130535 broad.mit.edu 37 2 201363767 201363767 + Missense_Mutation SNP T T C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr2:201363767T>C uc002uvs.2 - 4 930 c.413A>G c.(412-414)AAT>AGT p.N138S KCTD18_uc002uvt.2_Missense_Mutation_p.N138S|KCTD18_uc002uvu.1_Missense_Mutation_p.N138S NM_152387 NP_689600 Q6PI47 KCD18_HUMAN potassium channel tetramerization domain 138 voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1) 1 TGTTGGTTTATTGCAGACTAA 0.323000 INO80D 54891 broad.mit.edu 37 2 206927685 206927685 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr2:206927685G>A uc002vaz.3 - 3 461 c.56C>T c.(55-57)TCA>TTA p.S19L NM_017759 NP_060229 Q53TQ3 IN80D_HUMAN INO80 complex subunit D 19 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(1) 1 GGGGCTATATGAGCACAAGGG 0.478000 MAP2 4133 broad.mit.edu 37 2 210574735 210574735 + Silent SNP T T A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr2:210574735T>A uc002vde.1 + 12 5078 c.4830T>A c.(4828-4830)TCT>TCA p.S1610S MAP2_uc002vdd.1_Silent_p.S311S|MAP2_uc002vdf.1_Silent_p.S254S|MAP2_uc002vdg.1_Silent_p.S254S|MAP2_uc002vdh.1_Silent_p.S311S|MAP2_uc002vdi.1_Silent_p.S1606S NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 1610 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1) 17 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) CAAGTTATTCTTCACGCACAC 0.582000 CPS1 1373 broad.mit.edu 37 2 211465397 211465397 + Silent SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr2:211465397G>A uc002vee.3 + 15 1800 c.1668G>A c.(1666-1668)GAG>GAA p.E556E CPS1_uc010fur.2_Silent_p.E562E|CPS1_uc010fus.2_Silent_p.E105E NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 556 ATP-grasp 1. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) AACTAAATGAGATCAATGAAA 0.413000 UGT1A5 54579 broad.mit.edu 37 2 234681146 234681146 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr2:234681146C>T uc002vuw.2 + 5 1546 c.1546C>T c.(1546-1548)CGG>TGG p.R516W UGT1A8_uc002vup.2_Missense_Mutation_p.R512W|UGT1A10_uc002vur.2_Missense_Mutation_p.R512W|UGT1A9_uc002vus.2_Missense_Mutation_p.R512W|UGT1A7_uc002vut.2_Missense_Mutation_p.R512W|UGT1A6_uc002vuu.2_Missense_Mutation_p.R247W|UGT1A6_uc002vuv.3_Missense_Mutation_p.R514W|UGT1A4_uc002vux.2_Missense_Mutation_p.R516W|UGT1A3_uc002vuy.2_Missense_Mutation_p.R516W|UGT1A9_uc002vva.2_RNA|UGT1A1_uc002vvb.2_Missense_Mutation_p.R515W NM_019078 NP_061951 P35504 UD15_HUMAN UDP glycosyltransferase 1 family, polypeptide A5 516 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(1) 1 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645) TTATGGCTACCGGAAATGCTT 0.468000 PROKR2 128674 broad.mit.edu 37 20 5282999 5282999 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr20:5282999A>C uc010zqw.1 - 2 842 c.842T>G c.(841-843)CTC>CGC p.L281R PROKR2_uc010zqx.1_Missense_Mutation_p.L281R|PROKR2_uc010zqy.1_Missense_Mutation_p.L281R NM_144773 NP_658986 Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 281 Helical; Name=6; (Potential). integral to membrane|plasma membrane neuropeptide Y receptor activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 ATAGGCCGTGAGAATGCACAT 0.587000 HNSCC(71;0.22) PYGB 5834 broad.mit.edu 37 20 25276278 25276278 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr20:25276278G>A uc002wup.2 + 19 2460 c.2351G>A c.(2350-2352)TGC>TAC p.C784Y ABHD12_uc002wuq.2_Intron|ABHD12_uc002wur.2_Intron NM_002862 NP_002853 P11216 PYGB_HUMAN brain glycogen phosphorylase 784 glucose metabolic process|glycogen catabolic process cytoplasm glycogen phosphorylase activity|pyridoxal phosphate binding central_nervous_system(1)|skin(1) 2 Pyridoxal Phosphate(DB00114) TACATGCAGTGCCAGGCACAG 0.607000 FAM83C 128876 broad.mit.edu 37 20 33874645 33874645 + Missense_Mutation SNP C C A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr20:33874645C>A uc010zux.1 - 4 2055 c.1937G>T c.(1936-1938)GGT>GTT p.G646V EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Missense_Mutation_p.G301V NM_178468 NP_848563 Q9BQN1 FA83C_HUMAN hypothetical protein LOC128876 646 ovary(2) 2 BRCA - Breast invasive adenocarcinoma(18;0.00252) AGGCCCCTCACCACGGAATGG 0.642000 CHD6 84181 broad.mit.edu 37 20 40049347 40049347 + Silent SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr20:40049347G>A uc002xka.1 - 31 6106 c.5928C>T c.(5926-5928)GCC>GCT p.A1976A NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1976 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding ovary(6)|skin(5)|lung(2)|central_nervous_system(1) 14 Myeloproliferative disorder(115;0.00425) CACCCTCCATGGCGATAGTAT 0.433000 CHD6 84181 broad.mit.edu 37 20 40049356 40049356 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr20:40049356A>C uc002xka.1 - 31 6097 c.5919T>G c.(5917-5919)AAT>AAG p.N1973K NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1973 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding ovary(6)|skin(5)|lung(2)|central_nervous_system(1) 14 Myeloproliferative disorder(115;0.00425) TGGCGATAGTATTGGTTTTAC 0.443000 MMP9 4318 broad.mit.edu 37 20 44639165 44639165 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr20:44639165G>A uc002xqz.2 + 3 434 c.415G>A c.(415-417)GAC>AAC p.D139N NM_004994 NP_004985 P14780 MMP9_HUMAN matrix metalloproteinase 9 preproprotein 139 collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis extracellular space|proteinaceous extracellular matrix collagen binding|metalloendopeptidase activity|zinc ion binding ovary(1)|pancreas(1) 2 Myeloproliferative disorder(115;0.0122) Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641) GGTGATTGACGACGCCTTTGC 0.612000 TPTE 7179 broad.mit.edu 37 21 10908834 10908834 + Missense_Mutation SNP T T A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr21:10908834T>A uc002yip.1 - 23 1879 c.1511A>T c.(1510-1512)GAA>GTA p.E504V TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.E486V|TPTE_uc002yir.1_Missense_Mutation_p.E466V|TPTE_uc010gkv.1_Missense_Mutation_p.E366V NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 504 C2 tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CCTGTTATTTTCAATAAAAGA 0.299000 TPTE 7179 broad.mit.edu 37 21 10934995 10934995 + Silent SNP T T C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr21:10934995T>C uc002yip.1 - 15 1166 c.798A>G c.(796-798)GAA>GAG p.E266E TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Silent_p.E248E|TPTE_uc002yir.1_Silent_p.E228E|TPTE_uc010gkv.1_Silent_p.E128E NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 266 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ACCGCACAACTTCCTAAAAAA 0.333000 TPTE 7179 broad.mit.edu 37 21 10971302 10971302 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr21:10971302G>A uc002yip.1 - 5 423 c.55C>T c.(55-57)CCC>TCC p.P19S TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.P19S|TPTE_uc002yir.1_Missense_Mutation_p.P19S|TPTE_uc010gkv.1_Intron NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 19 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CTGTCATTGGGGCCGAGCTCA 0.303000 TRPM2 7226 broad.mit.edu 37 21 45820246 45820246 + Silent SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr21:45820246C>T uc002zet.1 + 16 2526 c.2313C>T c.(2311-2313)ATC>ATT p.I771I TRPM2_uc002zeu.1_Silent_p.I771I|TRPM2_uc002zew.1_Silent_p.I771I|TRPM2_uc010gpt.1_Silent_p.I771I|TRPM2_uc002zex.1_Silent_p.I557I|TRPM2_uc002zey.1_Silent_p.I284I NM_003307 NP_003298 O94759 TRPM2_HUMAN transient receptor potential cation channel, 771 Helical; (Potential). integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 CCGGCCTCATCTCCTTCAGGT 0.488000 PCBP3 54039 broad.mit.edu 37 21 47321018 47321018 + Missense_Mutation SNP G G C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr21:47321018G>C uc002zhq.1 + 5 455 c.330G>C c.(328-330)AAG>AAC p.K110N PCBP3_uc010gqb.2_Missense_Mutation_p.K110N|PCBP3_uc002zhp.1_Missense_Mutation_p.K110N|PCBP3_uc010gqc.1_Missense_Mutation_p.K110N|PCBP3_uc002zhs.1_Missense_Mutation_p.K110N|PCBP3_uc002zhr.1_Missense_Mutation_p.K110N|PCBP3_uc002zht.1_Missense_Mutation_p.K78N NM_020528 NP_065389 P57721 PCBP3_HUMAN poly(rC) binding protein 3 isoform 1 110 mRNA metabolic process cytosol|mitochondrion|nucleus|ribonucleoprotein complex DNA binding|RNA binding skin(1) 1 all_hematologic(128;0.24) Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649) TCGCATACAAGTTTGAGGAGG 0.597000 PRAME 23532 broad.mit.edu 37 22 22891014 22891014 + Silent SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr22:22891014C>T uc002zwf.2 - 5 1161 c.1005G>A c.(1003-1005)TCG>TCA p.S335S LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Silent_p.S319S|PRAME_uc010gtr.2_Silent_p.S335S|PRAME_uc002zwg.2_Silent_p.S335S|PRAME_uc002zwh.2_Silent_p.S335S|PRAME_uc002zwi.2_Silent_p.S335S|PRAME_uc002zwj.2_Silent_p.S335S|PRAME_uc002zwk.2_Silent_p.S335S NM_206956 NP_996839 P78395 PRAME_HUMAN preferentially expressed antigen in melanoma 335 LRR 1. apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent nucleus|plasma membrane retinoic acid receptor binding central_nervous_system(2) 2 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05) READ - Rectum adenocarcinoma(21;0.0649) CATCCCCTTCCGAAAGCCGGC 0.542000 ZNF70 7621 broad.mit.edu 37 22 24087318 24087318 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr22:24087318G>A uc002zxs.2 - 2 471 c.10C>T c.(10-12)CCC>TCC p.P4S ZNF70_uc002zxr.1_5'Flank NM_021916 NP_068735 Q9UC06 ZNF70_HUMAN zinc finger protein 70 4 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 GTTGCTGGGGGAACCTCCATT 0.438000 C22orf36 388886 broad.mit.edu 37 22 24985869 24985869 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr22:24985869C>T uc003aaq.2 - 2 255 c.226G>A c.(226-228)GTG>ATG p.V76M GGT1_uc003aan.1_Intron|C22orf36_uc003aao.2_5'Flank|C22orf36_uc003aap.2_RNA NM_207644 NP_997527 Q2VPJ9 LRC6X_HUMAN hypothetical protein LOC388886 76 0 AGGAAGGCCACATCTCTGTAG 0.607000 GRM7 2917 broad.mit.edu 37 3 6903438 6903438 + Silent SNP T T C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr3:6903438T>C uc003bqm.2 + 1 637 c.363T>C c.(361-363)ACT>ACC p.T121T GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Silent_p.T121T|GRM7_uc003bql.2_Silent_p.T121T NM_000844 NP_000835 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 isoform a 121 Extracellular (Potential). negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding ovary(4)|lung(3) 7 L-Glutamic Acid(DB00142) AGTCGCTTACTTTCGTCCAGG 0.582000 NISCH 11188 broad.mit.edu 37 3 52521668 52521668 + Silent SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr3:52521668C>T uc011beg.1 + 17 2232 c.2160C>T c.(2158-2160)GGC>GGT p.G720G NISCH_uc003ded.3_Silent_p.G720G|NISCH_uc003dee.3_Silent_p.G209G|NISCH_uc003deg.1_RNA NM_007184 NP_009115 Q9Y2I1 NISCH_HUMAN nischarin 720 Interaction with LIMK (By similarity).|Interaction with ITGA5 (By similarity).|Interaction with PAK1 (By similarity). apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity ovary(3)|central_nervous_system(1) 4 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) ATGTGCAGGGCAGTATCCGCC 0.642000 EPHA3 2042 broad.mit.edu 37 3 89468410 89468410 + Silent SNP T T C rs138119313 TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr3:89468410T>C uc003dqy.2 + 11 2169 c.1944T>C c.(1942-1944)ATT>ATC p.I648I EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 648 Cytoplasmic (Potential).|Protein kinase. extracellular region|integral to plasma membrane ATP binding lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1) 33 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) AAAAAGAGATTTCAGTGGCCA 0.413000 TSP Lung(6;0.00050) LNP1 348801 broad.mit.edu 37 3 100170656 100170656 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr3:100170656G>A uc003dtx.3 + 3 1530 c.250G>A c.(250-252)GAT>AAT p.D84N LNP1_uc003dty.3_RNA|LNP1_uc011bhb.1_RNA NM_001085451 NP_001078920 A1A4G5 LNP1_HUMAN leukemia NUP98 fusion partner 1 84 0 CCACGTACGGGATTACAGAAA 0.448000 CD200R1L 344807 broad.mit.edu 37 3 112548191 112548191 + Missense_Mutation SNP C C A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr3:112548191C>A uc003dzi.1 - 2 313 c.87G>T c.(85-87)CAG>CAT p.Q29H CD200R1L_uc011bhw.1_Missense_Mutation_p.Q8H|CD200R1L_uc010hqf.1_Missense_Mutation_p.Q8H NM_001008784 NP_001008784 Q6Q8B3 MO2R2_HUMAN CD200 cell surface glycoprotein receptor 2 29 Extracellular (Potential). integral to membrane receptor activity ovary(1) 1 TTGAATAGTTCTGTGTCATCT 0.383000 CASR 846 broad.mit.edu 37 3 121981057 121981057 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr3:121981057G>A uc003eev.3 + 4 1547 c.1175G>A c.(1174-1176)CGA>CAA p.R392Q CASR_uc003eew.3_Missense_Mutation_p.R392Q NM_000388 NP_000379 P41180 CASR_HUMAN calcium-sensing receptor precursor 392 Extracellular (Potential). anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(2)|upper_aerodigestive_tract(1) 7 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) ACAGCCTTCCGACCCCTCTGT 0.493000 P2RY13 53829 broad.mit.edu 37 3 151046346 151046346 + Silent SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr3:151046346G>A uc003eyv.2 - 2 519 c.498C>T c.(496-498)TTC>TTT p.F166F MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron NM_176894 NP_795713 Q9BPV8 P2Y13_HUMAN purinergic receptor P2Y, G-protein coupled, 13 166 Helical; Name=4; (Potential). integral to membrane|plasma membrane ovary(3)|lung(1) 4 LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278) AGAACCAGATGAAGATTGAGA 0.398000 GHSR 2693 broad.mit.edu 37 3 172165990 172165990 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr3:172165990G>A uc003fib.1 - 1 214 c.214C>T c.(214-216)CGC>TGC p.R72C GHSR_uc011bpv.1_Missense_Mutation_p.R72C NM_198407 NP_940799 Q92847 GHSR_HUMAN growth hormone secretagogue receptor isoform 1a 72 Cytoplasmic (Potential). actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity lung(3)|ovary(1)|central_nervous_system(1) 5 Ovarian(172;0.00143)|Breast(254;0.197) Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) CGCAGCTCGCGGAAGCGCGAC 0.662000 NLGN1 22871 broad.mit.edu 37 3 173997382 173997382 + Missense_Mutation SNP A A T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr3:173997382A>T uc003fio.1 + 6 2014 c.1591A>T c.(1591-1593)AAT>TAT p.N531Y NLGN1_uc010hww.1_Missense_Mutation_p.N571Y|NLGN1_uc003fip.1_Missense_Mutation_p.N531Y NM_014932 NP_055747 Q8N2Q7 NLGN1_HUMAN neuroligin 1 548 Extracellular (Potential). calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1) 7 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) TTTCTCCAAAAATGATGTGAT 0.403000 NAALADL2 254827 broad.mit.edu 37 3 174814991 174814991 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr3:174814991C>T uc003fit.2 + 2 542 c.455C>T c.(454-456)TCA>TTA p.S152L NAALADL2_uc003fiu.1_Missense_Mutation_p.S145L NM_207015 NP_996898 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 152 Extracellular (Potential). proteolysis integral to membrane peptidase activity pancreas(1) 1 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) AATTGCCCTTCAGATGCTCCA 0.373000 IL1RAP 3556 broad.mit.edu 37 3 190366294 190366294 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr3:190366294G>A uc003fsm.1 + 12 1719 c.1513G>A c.(1513-1515)GCT>ACT p.A505T IL1RAP_uc010hzg.1_Missense_Mutation_p.A505T|IL1RAP_uc003fsn.1_RNA|IL1RAP_uc003fso.1_Missense_Mutation_p.A505T|IL1RAP_uc003fsp.1_RNA|IL1RAP_uc003fsq.2_Intron NM_002182 NP_002173 Q9NPH3 IL1AP_HUMAN interleukin 1 receptor accessory protein isoform 505 Cytoplasmic (Potential).|TIR. inflammatory response|innate immune response|protein complex assembly extracellular region|integral to plasma membrane ovary(1) 1 all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21) Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06) GBM - Glioblastoma multiforme(93;0.00851) ACAGTACAAAGCTGTGAAGGA 0.502000 WHSC1 7468 broad.mit.edu 37 4 1980505 1980505 + Missense_Mutation SNP T T C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr4:1980505T>C uc003gdz.3 + 22 4143 c.3967T>C c.(3967-3969)TGC>CGC p.C1323R WHSC1_uc003geb.3_Missense_Mutation_p.C1323R|WHSC1_uc003gec.3_Missense_Mutation_p.C1323R|WHSC1_uc003ged.3_Missense_Mutation_p.C1323R|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Missense_Mutation_p.C542R|WHSC1_uc011bvh.1_Missense_Mutation_p.C384R|WHSC1_uc010icf.2_Missense_Mutation_p.C671R NM_001042424 NP_001035889 O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 protein 1323 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) GCGGTCCTACTGCTGTGAGCA 0.622000 T IGH@ MM CLRN2 645104 broad.mit.edu 37 4 17528460 17528460 + Missense_Mutation SNP A A G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr4:17528460A>G uc003gpg.1 + 3 556 c.454A>G c.(454-456)ATC>GTC p.I152V NM_001079827 NP_001073296 A0PK11 CLRN2_HUMAN clarin 2 152 Helical; (Potential). integral to membrane 0 GGCGTTAGCCATCGCCAGCTT 0.522000 KLB 152831 broad.mit.edu 37 4 39439358 39439358 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr4:39439358G>A uc003gua.2 + 3 1445 c.1348G>A c.(1348-1350)GAT>AAT p.D450N KLB_uc011byj.1_Missense_Mutation_p.D450N NM_175737 NP_783864 Q86Z14 KLOTB_HUMAN klotho beta 450 Extracellular (Potential).|Glycosyl hydrolase-1 1. carbohydrate metabolic process integral to membrane|plasma membrane cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds skin(1) 1 AATAAGGTTAGATGAAATACG 0.418000 NPFFR2 10886 broad.mit.edu 37 4 73012916 73012916 + Missense_Mutation SNP A A G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr4:73012916A>G uc003hgg.2 + 4 1054 c.956A>G c.(955-957)AAG>AGG p.K319R NPFFR2_uc010iig.1_Missense_Mutation_p.K101R|NPFFR2_uc003hgi.2_Missense_Mutation_p.K220R|NPFFR2_uc003hgh.2_Missense_Mutation_p.K217R|NPFFR2_uc003hgj.2_RNA NM_004885 NP_004876 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 isoform 1 319 Extracellular (Potential). detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity ovary(2)|central_nervous_system(1) 3 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) GAAATGAGGAAGATCTACACC 0.473000 STBD1 8987 broad.mit.edu 37 4 77230709 77230709 + Silent SNP T T C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr4:77230709T>C uc003hka.2 + 2 879 c.633T>C c.(631-633)TCT>TCC p.S211S STBD1_uc003hjy.2_3'UTR|STBD1_uc011cbv.1_3'UTR|STBD1_uc011cbw.1_Silent_p.S62S NM_003943 NP_003934 O95210 STBD1_HUMAN starch binding domain 1 211 Cytoplasmic (Potential). carbohydrate metabolic process|muscle contraction integral to plasma membrane|membrane fraction carbohydrate binding|catalytic activity|protein binding ovary(1) 1 Lung(101;0.196) GGCACTCATCTTGGGGGGATG 0.502000 MTTP 4547 broad.mit.edu 37 4 100528022 100528022 + Missense_Mutation SNP A A G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr4:100528022A>G uc003hvc.3 + 12 1718 c.1462A>G c.(1462-1464)AGT>GGT p.S488G MTTP_uc011cej.1_Missense_Mutation_p.S515G NM_000253 NP_000244 P55157 MTP_HUMAN microsomal triglyceride transfer protein large 488 Vitellogenin. lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity ovary(3)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) AGGCATCCCAAGTCTTCTGAA 0.478000 H2AFZ 3015 broad.mit.edu 37 4 100870839 100870839 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr4:100870839G>A uc003hvo.1 - 2 247 c.62C>T c.(61-63)TCG>TTG p.S21L DNAJB14_uc003hvl.2_5'Flank|DNAJB14_uc010ili.2_5'Flank|DNAJB14_uc003hvm.2_5'Flank|H2AFZ_uc003hvn.1_Missense_Mutation_p.S21L|LOC256880_uc003hvp.1_5'Flank NM_002106 NP_002097 P0C0S5 H2AZ_HUMAN H2A histone family, member Z 21 nucleosome assembly nucleosome|nucleus DNA binding 0 OV - Ovarian serous cystadenocarcinoma(123;2.32e-08) GGCTCTCTGCGAGCGGGAAAC 0.567000 NDST3 9348 broad.mit.edu 37 4 119158338 119158338 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr4:119158338T>G uc003ibx.2 + 10 2484 c.2081T>G c.(2080-2082)CTC>CGC p.L694R NDST3_uc011cgf.1_3'UTR NM_004784 NP_004775 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan 694 Lumenal (Potential).|Heparan sulfate N-sulfotransferase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity large_intestine(1) 1 ATCACCATTCTCATTGACCCT 0.443000 PDGFC 56034 broad.mit.edu 37 4 157732094 157732094 + Silent SNP T T A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr4:157732094T>A uc003iph.1 - 3 881 c.390A>T c.(388-390)CCA>CCT p.P130P PDGFC_uc003ipi.1_5'UTR|PDGFC_uc011cis.1_5'UTR|PDGFC_uc011cir.1_Intron NM_016205 NP_057289 Q9NRA1 PDGFC_HUMAN platelet-derived growth factor C precursor 130 CUB. central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity ovary(1)|lung(1)|skin(1) 3 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212) TCTGTTTTCCTGGTACAGTAC 0.388000 VEGFC 7424 broad.mit.edu 37 4 177713384 177713384 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr4:177713384C>T uc003ius.1 - 1 512 c.82G>A c.(82-84)GCC>ACC p.A28T NM_005429 NP_005420 P49767 VEGFC_HUMAN vascular endothelial growth factor C 28 angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity lung(5) 5 Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397) gcggcggcggcggcgggcgcc 0.562000 AGA 175 broad.mit.edu 37 4 178363527 178363527 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr4:178363527C>T uc003iuu.1 - 1 65 c.3G>A c.(1-3)ATG>ATA p.M1I uc003iux.1_5'Flank|AGA_uc003iuv.1_5'Flank|AGA_uc003iuw.2_5'Flank NM_000027 NP_000018 P20933 ASPG_HUMAN aspartylglucosaminidase precursor 1 asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity 0 all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245) all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163) ACTTCCGCGCCATCCCTGACC 0.657000 CTNND2 1501 broad.mit.edu 37 5 11411757 11411757 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr5:11411757T>G uc003jfa.1 - 5 475 c.330A>C c.(328-330)CAA>CAC p.Q110H CTNND2_uc010itt.2_Missense_Mutation_p.Q19H|CTNND2_uc011cmy.1_Missense_Mutation_p.Q19H|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 110 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 CGATATCTTTTTGACCATCTG 0.343000 FBXL7 23194 broad.mit.edu 37 5 15937126 15937126 + Missense_Mutation SNP A A G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr5:15937126A>G uc003jfn.1 + 4 1788 c.1307A>G c.(1306-1308)AAG>AGG p.K436R NM_012304 NP_036436 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 436 LRR 10. ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity ovary(2)|lung(1) 3 CTCAGCCTCAAGTCCTGCGAG 0.592000 MYO10 4651 broad.mit.edu 37 5 16671582 16671582 + Silent SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr5:16671582G>A uc003jft.3 - 38 5847 c.5379C>T c.(5377-5379)GAC>GAT p.D1793D MYO10_uc011cnb.1_Silent_p.D422D|MYO10_uc011cnc.1_Silent_p.D672D|MYO10_uc011cnd.1_Silent_p.D1150D|MYO10_uc011cne.1_Silent_p.D1150D|MYO10_uc010itx.2_Silent_p.D1415D NM_012334 NP_036466 Q9HD67 MYO10_HUMAN myosin X 1793 FERM. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity ovary(2)|pancreas(1) 3 CGTTGTCTGTGTCCAGGAAGC 0.463000 PARP8 79668 broad.mit.edu 37 5 50117139 50117139 + Silent SNP T T C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr5:50117139T>C uc003jon.3 + 17 1943 c.1761T>C c.(1759-1761)CCT>CCC p.P587P PARP8_uc011cpz.1_Silent_p.P479P|PARP8_uc003joo.2_Silent_p.P587P|PARP8_uc003jop.2_Intron NM_024615 NP_078891 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 587 intracellular NAD+ ADP-ribosyltransferase activity lung(3)|large_intestine(1)|ovary(1) 5 Lung NSC(810;0.0305)|Breast(144;0.222) TGGTAGATCCTAATGATCCTC 0.393000 PCDHB3 56132 broad.mit.edu 37 5 140481367 140481367 + Silent SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr5:140481367C>T uc003lio.2 + 1 1134 c.1134C>T c.(1132-1134)AAC>AAT p.N378N uc003lin.2_Intron NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN protocadherin beta 3 precursor 378 Extracellular (Potential).|Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTGGAGACAACGGAAGAGTGA 0.473000 FCHSD1 89848 broad.mit.edu 37 5 141026260 141026260 + Silent SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr5:141026260G>A uc003llk.2 - 11 1005 c.954C>T c.(952-954)GGC>GGT p.G318G FCHSD1_uc010jgg.2_5'UTR|FCHSD1_uc003llj.2_RNA NM_033449 NP_258260 Q86WN1 FCSD1_HUMAN FCH and double SH3 domains 1 318 FCHSD1/BRAF(2) skin(2)|ovary(1)|central_nervous_system(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCCAGCCACGCCTTCTGCTC 0.602000 GABRA6 2559 broad.mit.edu 37 5 161113263 161113263 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr5:161113263A>C uc003lyu.2 + 2 404 c.66A>C c.(64-66)GAA>GAC p.E22D NM_000811 NP_000802 Q16445 GBRA6_HUMAN gamma-aminobutyric acid A receptor, alpha 6 22 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GGAAACTCGAAGTTGAAGGCA 0.478000 TCGA Ovarian(5;0.080) ELOVL2 54898 broad.mit.edu 37 6 10995345 10995345 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr6:10995345C>T uc003mzp.3 - 5 561 c.400G>A c.(400-402)GTT>ATT p.V134I NM_017770 NP_060240 Q9NXB9 ELOV2_HUMAN elongation of very long chain fatty acids-like 134 fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding 0 Breast(50;0.0418)|Ovarian(93;0.0919) all_hematologic(90;0.117) Epithelial(50;0.176) TTCCGCAAAACGAAGAAAATT 0.393000 MYLIP 29116 broad.mit.edu 37 6 16143326 16143326 + Silent SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr6:16143326G>A uc003nbq.2 + 4 777 c.540G>A c.(538-540)TCG>TCA p.S180S MYLIP_uc003nbr.2_5'UTR NM_013262 NP_037394 Q8WY64 MYLIP_HUMAN myosin regulatory light chain interacting 180 FERM. cellular component movement|nervous system development cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding pancreas(1) 1 Breast(50;0.0799)|Ovarian(93;0.103) all_hematologic(90;0.0895) Epithelial(50;0.241) AGATTGTGTCGGCAATGGAAA 0.478000 SLC17A1 6568 broad.mit.edu 37 6 25820066 25820066 + Silent SNP T T C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr6:25820066T>C uc003nfh.3 - 4 401 c.285A>G c.(283-285)CAA>CAG p.Q95Q SLC17A1_uc011djy.1_RNA|SLC17A1_uc010jqb.1_Silent_p.Q93Q|SLC17A1_uc010jqc.1_Silent_p.Q93Q NM_005074 NP_005065 Q14916 NPT1_HUMAN solute carrier family 17 (sodium phosphate), 95 Helical; (Potential). sodium ion transport|urate metabolic process integral to plasma membrane|membrane fraction sodium-dependent phosphate transmembrane transporter activity|symporter activity ovary(3)|pancreas(1) 4 CAACAGGAACTTGGATGATGA 0.438000 SLC17A3 10786 broad.mit.edu 37 6 25850086 25850086 + Missense_Mutation SNP T T A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr6:25850086T>A uc003nfi.3 - 9 1094 c.984A>T c.(982-984)TTA>TTT p.L328F SLC17A3_uc003nfk.3_Missense_Mutation_p.L406F NM_006632 NP_006623 O00476 NPT4_HUMAN solute carrier family 17 (sodium phosphate), 328 Helical; (Potential). glucose-6-phosphate transport|urate metabolic process apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity 0 ACAATGTGCTTAATCCGCAAG 0.433000 VARS2 57176 broad.mit.edu 37 6 30890003 30890003 + Silent SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr6:30890003G>A uc003nsc.1 + 19 2549 c.1917G>A c.(1915-1917)CAG>CAA p.Q639Q VARS2_uc011dmx.1_Silent_p.Q639Q|VARS2_uc011dmy.1_Silent_p.Q499Q|VARS2_uc011dmz.1_Silent_p.Q669Q|VARS2_uc011dna.1_Silent_p.Q637Q|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_Missense_Mutation_p.A55T|VARS2_uc010jsg.1_Silent_p.Q11Q|VARS2_uc010jsh.1_5'Flank NM_020442 NP_065175 Q5ST30 SYVM_HUMAN valyl-tRNA synthetase 2, mitochondrial 639 valyl-tRNA aminoacylation mitochondrion ATP binding|valine-tRNA ligase activity ovary(3)|central_nervous_system(1) 4 TCACAGGGCAGCTGCCCTTCA 0.577000 SLC26A8 116369 broad.mit.edu 37 6 35965625 35965625 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr6:35965625C>T uc003olm.2 - 5 628 c.517G>A c.(517-519)GTC>ATC p.V173I SLC26A8_uc003oln.2_Missense_Mutation_p.V173I|SLC26A8_uc003oll.2_Missense_Mutation_p.V173I NM_052961 NP_443193 Q96RN1 S26A8_HUMAN solute carrier family 26, member 8 isoform a 173 Extracellular (Potential). cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity ovary(2) 2 GATCCCATGACCAGTTGACCG 0.473000 PKHD1 5314 broad.mit.edu 37 6 51484093 51484093 + Missense_Mutation SNP T T C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr6:51484093T>C uc003pah.1 - 67 12287 c.12011A>G c.(12010-12012)GAG>GGG p.E4004G NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 4004 Cytoplasmic (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) GAGCAACTGCTCTTGGCCCTC 0.572000 MANEA 79694 broad.mit.edu 37 6 96054138 96054138 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr6:96054138C>T uc003poo.1 + 5 1386 c.1246C>T c.(1246-1248)CCC>TCC p.P416S NM_024641 NP_078917 Q5SRI9 MANEA_HUMAN mannosidase, endo-alpha 416 Catalytic (Probable).|Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane glycoprotein endo-alpha-1,2-mannosidase activity ovary(2)|breast(1) 3 all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341) BRCA - Breast invasive adenocarcinoma(108;0.148) AAAAGCTGTTCCCAAAAGAAC 0.423000 C6orf167 253714 broad.mit.edu 37 6 97629852 97629852 + Missense_Mutation SNP T T A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr6:97629852T>A uc003ppb.2 - 16 2578 c.2312A>T c.(2311-2313)CAA>CTA p.Q771L C6orf167_uc011eaf.1_Missense_Mutation_p.Q731L NM_198468 NP_940870 Q6ZRQ5 MMS22_HUMAN hypothetical protein LOC253714 771 double-strand break repair via homologous recombination|replication fork processing nuclear replication fork protein binding 0 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198) BRCA - Breast invasive adenocarcinoma(108;0.0457) ACCAAAAAGTTGAATAATTGA 0.378000 C6orf167 253714 broad.mit.edu 37 6 97629859 97629859 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr6:97629859T>G uc003ppb.2 - 16 2571 c.2305A>C c.(2305-2307)ATT>CTT p.I769L C6orf167_uc011eaf.1_Missense_Mutation_p.I729L NM_198468 NP_940870 Q6ZRQ5 MMS22_HUMAN hypothetical protein LOC253714 769 double-strand break repair via homologous recombination|replication fork processing nuclear replication fork protein binding 0 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198) BRCA - Breast invasive adenocarcinoma(108;0.0457) AGTTGAATAATTGATATAACT 0.373000 RFPL4B 442247 broad.mit.edu 37 6 112671377 112671377 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr6:112671377A>C uc003pvx.1 + 3 779 c.467A>C c.(466-468)AAG>ACG p.K156T NM_001013734 NP_001013756 Q6ZWI9 RFPLB_HUMAN ret finger protein-like 4B 156 B30.2/SPRY. zinc ion binding 0 all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209) all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244) GGAGAGGTGAAGTCATGGTCC 0.552000 ROS1 6098 broad.mit.edu 37 6 117710930 117710930 + Missense_Mutation SNP G G C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr6:117710930G>C uc003pxp.1 - 12 1541 c.1342C>G c.(1342-1344)CGT>GGT p.R448G ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 448 Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) TCCACAATACGCACAGCTTCT 0.448000 T GOPC|ROS1 glioblastoma|NSCLC MYB 4602 broad.mit.edu 37 6 135539112 135539112 + Silent SNP C C A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr6:135539112C>A uc003qfc.2 + 15 2116 c.1917C>A c.(1915-1917)GTC>GTA p.V639V MYB_uc003qfh.2_Silent_p.V760V|MYB_uc003qfi.2_Silent_p.V744V|MYB_uc010kgi.2_Silent_p.V602V|MYB_uc003qfq.2_Silent_p.V757V|MYB_uc010kgj.2_Silent_p.V604V|MYB_uc003qfo.2_Silent_p.V554V|MYB_uc003qfu.2_Silent_p.V636V|MYB_uc003qfl.2_RNA|MYB_uc003qfv.2_RNA|MYB_uc003qfz.2_RNA|MYB_uc003qfx.2_RNA|MYB_uc003qga.2_RNA|MYB_uc003qgb.2_RNA|MYB_uc010kgk.2_RNA|MYB_uc003qfd.2_RNA|MYB_uc003qfe.2_RNA|MYB_uc003qfg.2_RNA|MYB_uc003qff.2_RNA|MYB_uc003qfj.2_RNA|MYB_uc003qfm.2_RNA|MYB_uc003qfp.2_RNA|MYB_uc003qfn.2_RNA|MYB_uc003qfk.2_RNA|MYB_uc003qfr.2_RNA|MYB_uc003qfs.2_Silent_p.V265V|MYB_uc003qft.2_RNA|MYB_uc003qfw.2_Silent_p.V451V|MYB_uc003qfy.2_RNA|MYB_uc003qgc.2_RNA NM_005375 NP_005366 P10242 MYB_HUMAN v-myb myeloblastosis viral oncogene homolog 639 blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear matrix DNA binding|protein binding lung(1) 1 all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221) Lung NSC(302;3.08e-05)|Ovarian(999;0.208) OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117) GGACGCTGGTCATGTGAGACA 0.438000 T NFIB adenoid cystic carcinoma KATNA1 11104 broad.mit.edu 37 6 149916259 149916259 + Silent SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr6:149916259C>T uc003qmr.1 - 10 1434 c.1389G>A c.(1387-1389)GAG>GAA p.E463E KATNA1_uc003qms.2_Silent_p.E463E|KATNA1_uc003qmt.2_3'UTR NM_007044 NP_008975 O75449 KTNA1_HUMAN katanin p60 subunit A 1 463 cell division|interphase of mitotic cell cycle|mitosis microtubule|microtubule organizing center|spindle pole ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity skin(1) 1 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173) TTAAAGCCATCTCGAAATCCT 0.393000 TIAM2 26230 broad.mit.edu 37 6 155465823 155465823 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr6:155465823G>A uc003qqb.2 + 8 2987 c.1714G>A c.(1714-1716)GAC>AAC p.D572N TIAM2_uc003qqe.2_Missense_Mutation_p.D572N|TIAM2_uc010kjj.2_Missense_Mutation_p.D105N NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 572 PH 1. apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity ovary(3)|breast(1) 4 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) GTTTGCAGAAGACAGCATAGT 0.488000 TIAM2 26230 broad.mit.edu 37 6 155485683 155485683 + Silent SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr6:155485683G>A uc003qqb.2 + 10 3436 c.2163G>A c.(2161-2163)AAG>AAA p.K721K TIAM2_uc003qqe.2_Silent_p.K721K|TIAM2_uc010kjj.2_Silent_p.K254K|TIAM2_uc003qqf.2_Silent_p.K73K|TIAM2_uc011efl.1_Silent_p.K33K|TIAM2_uc003qqg.2_Silent_p.K33K NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 721 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity ovary(3)|breast(1) 4 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) GCCCCTCCAAGCTGGCCCTCG 0.592000 PNLDC1 154197 broad.mit.edu 37 6 160225002 160225002 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr6:160225002T>G uc003qsx.1 + 5 392 c.221T>G c.(220-222)ATA>AGA p.I74R PNLDC1_uc003qsy.1_Missense_Mutation_p.I85R NM_173516 NP_775787 Q8NA58 PNDC1_HUMAN poly(A)-specific ribonuclease (PARN)-like domain 74 Cytoplasmic (Potential). integral to membrane|nucleus nucleic acid binding 0 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) TATAGGTATATAGCCCATTCT 0.408000 VPS41 27072 broad.mit.edu 37 7 38783011 38783011 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr7:38783011C>T uc003tgy.2 - 24 2139 c.2113G>A c.(2113-2115)GAC>AAC p.D705N VPS41_uc003tgz.2_Missense_Mutation_p.D680N|VPS41_uc010kxn.2_Missense_Mutation_p.D616N|VPS41_uc003tgx.2_RNA NM_014396 NP_055211 P49754 VPS41_HUMAN vacuolar protein sorting 41 isoform 1 705 Clathrin. Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction zinc ion binding skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 CGTGGTTTGTCAATGGAATAT 0.343000 MLXIPL 51085 broad.mit.edu 37 7 73008307 73008307 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr7:73008307A>C uc003tyn.1 - 17 2495 c.2447T>G c.(2446-2448)CTG>CGG p.L816R MLXIPL_uc003tyj.1_Missense_Mutation_p.L195R|MLXIPL_uc003tyk.1_Missense_Mutation_p.L795R|MLXIPL_uc003tyl.1_Missense_Mutation_p.L814R|MLXIPL_uc003tym.1_Missense_Mutation_p.L797R|MLXIPL_uc003tyo.1_RNA|MLXIPL_uc003typ.1_3'UTR NM_032951 NP_116569 Q9NP71 WBS14_HUMAN Williams Beuren syndrome chromosome region 14 816 anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis cytosol|transcription factor complex carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding pancreas(1) 1 Lung NSC(55;0.0659)|all_lung(88;0.152) TAGGGAGTTCAGGACAGCTGG 0.607000 MAGI2 9863 broad.mit.edu 37 7 78636484 78636484 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr7:78636484A>C uc003ugx.2 - 2 594 c.340T>G c.(340-342)TTA>GTA p.L114V MAGI2_uc003ugy.2_Missense_Mutation_p.L114V NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ 114 Guanylate kinase-like. cell junction|synapse|synaptosome phosphatase binding ovary(5)|lung(4)|breast(1)|skin(1) 11 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) TGAAATCGTAAGTTGAGGTAG 0.388000 CACNA2D1 781 broad.mit.edu 37 7 81746398 81746398 + Missense_Mutation SNP T T C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr7:81746398T>C uc003uhr.1 - 6 744 c.488A>G c.(487-489)CAC>CGC p.H163R NM_000722 NP_000713 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 163 Extracellular (Potential). voltage-gated calcium channel complex metal ion binding ovary(5)|pancreas(1) 6 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) GACTGCTGCGTGCTGATAAGA 0.408000 PCLO 27445 broad.mit.edu 37 7 82545288 82545288 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr7:82545288T>G uc003uhx.2 - 7 12303 c.12014A>C c.(12013-12015)AAG>ACG p.K4005T PCLO_uc003uhv.2_Missense_Mutation_p.K4005T|PCLO_uc010lec.2_Missense_Mutation_p.K970T NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 3936 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 ACTATTGTACTTACTACCAAG 0.393000 ABCB1 5243 broad.mit.edu 37 7 87148690 87148690 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr7:87148690C>T uc003uiz.1 - 24 3297 c.2879G>A c.(2878-2880)GGA>GAA p.G960E ABCB1_uc011khc.1_Missense_Mutation_p.G896E NM_000927 NP_000918 P08183 MDR1_HUMAN ATP-binding cassette, subfamily B, member 1 960 ABC transmembrane type-1 2. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) CAAGTAGGCTCCAAACCGGAA 0.313000 CCDC132 55610 broad.mit.edu 37 7 92983058 92983058 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr7:92983058G>A uc003umo.2 + 26 2698 c.2570G>A c.(2569-2571)CGA>CAA p.R857Q CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.R827Q|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Missense_Mutation_p.R577Q NM_017667 NP_060137 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 isoform a 857 0 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) TTGGCTAATCGAACTATTGTA 0.338000 MUC17 140453 broad.mit.edu 37 7 100674400 100674400 + Splice_Site SNP G G C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr7:100674400G>C uc003uxp.1 + 2 136 c.83_splice c.e2-1 p.D28_splice MUC17_uc010lho.1_Splice_Site NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) GTCTCTTTCAGACCTCAGTGT 0.547000 MUC17 140453 broad.mit.edu 37 7 100675338 100675338 + Missense_Mutation SNP G G T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr7:100675338G>T uc003uxp.1 + 3 694 c.641G>T c.(640-642)GGA>GTA p.G214V MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 214 Extracellular (Potential).|1.|59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) AACAGTGAAGGAAGCACTCCA 0.473000 MUC17 140453 broad.mit.edu 37 7 100675869 100675869 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr7:100675869G>A uc003uxp.1 + 3 1225 c.1172G>A c.(1171-1173)GGA>GAA p.G391E MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 391 Extracellular (Potential).|59 X approximate tandem repeats.|4.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) CTTAGTGAAGGAAGCACTCCA 0.463000 PIK3CG 5294 broad.mit.edu 37 7 106508581 106508581 + Missense_Mutation SNP A A G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr7:106508581A>G uc003vdv.3 + 2 660 c.575A>G c.(574-576)GAC>GGC p.D192G PIK3CG_uc003vdu.2_Missense_Mutation_p.D192G|PIK3CG_uc003vdw.2_Missense_Mutation_p.D192G NM_002649 NP_002640 P48736 PK3CG_HUMAN phosphoinositide-3-kinase, catalytic, gamma 192 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1) 38 GCCAGCCGCGACCCCAAGCTC 0.617000 PIK3CG 5294 broad.mit.edu 37 7 106508825 106508825 + Silent SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr7:106508825C>T uc003vdv.3 + 2 904 c.819C>T c.(817-819)CGC>CGT p.R273R PIK3CG_uc003vdu.2_Silent_p.R273R|PIK3CG_uc003vdw.2_Silent_p.R273R NM_002649 NP_002640 P48736 PK3CG_HUMAN phosphoinositide-3-kinase, catalytic, gamma 273 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1) 38 TTGTGCTGCGCGTCTGTGGCC 0.547000 GPR37 2861 broad.mit.edu 37 7 124404054 124404054 + Missense_Mutation SNP T T C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr7:124404054T>C uc003vli.2 - 1 1628 c.977A>G c.(976-978)AAG>AGG p.K326R NM_005302 NP_005293 O15354 GPR37_HUMAN G protein-coupled receptor 37 precursor 326 Extracellular (Potential). endoplasmic reticulum membrane|integral to plasma membrane G-protein coupled receptor activity ovary(1)|lung(1)|central_nervous_system(1) 3 CAGCAGCCACTTCTTGGTCAG 0.522000 GRM8 2918 broad.mit.edu 37 7 126409924 126409924 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr7:126409924A>C uc003vlr.2 - 6 1663 c.1352T>G c.(1351-1353)TTT>TGT p.F451C GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.F451C|GRM8_uc010lkz.1_RNA|GRM8_uc003vlu.1_Missense_Mutation_p.F172C NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 451 Extracellular (Potential). negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1) 23 Prostate(267;0.186) L-Glutamic Acid(DB00142) CTTACCATTAAAATTTACAGC 0.398000 HNSCC(24;0.065) PLXNA4 91584 broad.mit.edu 37 7 131859619 131859619 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr7:131859619A>C uc003vra.3 - 21 4164 c.3935T>G c.(3934-3936)ATT>AGT p.I1312S NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 1312 Cytoplasmic (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 CAGGAACGGAATCCCGGCTCC 0.577000 LRGUK 136332 broad.mit.edu 37 7 133948719 133948719 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr7:133948719C>T uc003vrm.1 + 20 2486 c.2470C>T c.(2470-2472)CGC>TGC p.R824C NM_144648 NP_653249 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain 824 ATP binding|kinase activity lung(2)|skin(2)|kidney(1) 5 CCCTCAGGGCCGCAGGTAGAC 0.527000 JHDM1D 80853 broad.mit.edu 37 7 139791694 139791694 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr7:139791694G>A uc003vvm.2 - 19 2645 c.2641C>T c.(2641-2643)CCA>TCA p.P881S JHDM1D_uc010lng.2_RNA NM_030647 NP_085150 Q6ZMT4 KDM7_HUMAN jumonji C domain containing histone demethylase 881 midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 Melanoma(164;0.0142) TCACCAACTGGCCTTTCTGGG 0.507000 CSMD1 64478 broad.mit.edu 37 8 3855585 3855585 + Missense_Mutation SNP A A G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr8:3855585A>G uc011kwk.1 - 5 1048 c.658T>C c.(658-660)TCC>CCC p.S220P NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 220 Extracellular (Potential).|CUB 2. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TGCGGGCTGGAGATGGAGCTG 0.567000 SOX7 83595 broad.mit.edu 37 8 10683705 10683705 + Silent SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr8:10683705G>A uc011kwz.1 - 5 384 c.351C>T c.(349-351)TCC>TCT p.S117S PINX1_uc003wth.2_Silent_p.S117S|PINX1_uc003wti.2_Silent_p.S117S|MIR1322_hsa-mir-1322|MI0006653_5'Flank NM_031439 NP_113627 Q9BT81 SOX7_HUMAN SRY-box 7 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway cytoplasm|nucleus transcription regulatory region DNA binding p.R117C(1) breast(1) 1 COAD - Colon adenocarcinoma(149;0.0732) TGGAGATTTTGGACTTTTCCT 0.313000 ANK1 286 broad.mit.edu 37 8 41552795 41552795 + Silent SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr8:41552795C>T uc003xok.2 - 27 3099 c.3015G>A c.(3013-3015)GAG>GAA p.E1005E NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Silent_p.E321E|ANK1_uc003xoi.2_Silent_p.E1005E|ANK1_uc003xoj.2_Silent_p.E1005E|ANK1_uc003xol.2_Silent_p.E1005E|ANK1_uc003xom.2_Silent_p.E1046E NM_020476 NP_065209 P16157 ANK1_HUMAN ankyrin 1 isoform 1 1005 ZU5. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(3)|lung(2)|breast(1) 9 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) GAACCACGAGCTCGCGGTCTC 0.597000 PRKDC 5591 broad.mit.edu 37 8 48733370 48733370 + Silent SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr8:48733370G>A uc003xqi.2 - 67 9303 c.9246C>T c.(9244-9246)TAC>TAT p.Y3082Y PRKDC_uc003xqj.2_Silent_p.Y3082Y|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 3082 KIP-binding.|FAT. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) GCTCTTGACTGTAATGAAGCT 0.453000 NHEJ CYP7B1 9420 broad.mit.edu 37 8 65527645 65527645 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr8:65527645T>G uc003xvj.2 - 4 1199 c.995A>C c.(994-996)AAG>ACG p.K332T NM_004820 NP_004811 O75881 CP7B1_HUMAN cytochrome P450, family 7, subfamily B, 332 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity ovary(3) 3 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) AGACCCTTTCTTTTGACCTGT 0.443000 EYA1 2138 broad.mit.edu 37 8 72184108 72184108 + Nonsense_Mutation SNP G G T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr8:72184108G>T uc003xys.3 - 9 1138 c.851C>A c.(850-852)TCA>TAA p.S284* EYA1_uc003xyr.3_Nonsense_Mutation_p.S279*|EYA1_uc003xyt.3_Nonsense_Mutation_p.S251*|EYA1_uc010lzf.2_Nonsense_Mutation_p.S211*|EYA1_uc003xyu.2_Nonsense_Mutation_p.S284*|EYA1_uc011lfe.1_Nonsense_Mutation_p.S278*|EYA1_uc003xyv.2_Nonsense_Mutation_p.S162* NM_172058 NP_742055 Q99502 EYA1_HUMAN eyes absent 1 isoform b 284 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 5 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) AATGGGTGTTGATGGGCTGTG 0.448000 TRPA1 8989 broad.mit.edu 37 8 72970017 72970017 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr8:72970017C>T uc003xza.2 - 9 1203 c.1028G>A c.(1027-1029)CGC>CAC p.R343H NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 343 Cytoplasmic (Potential).|ANK 9. integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) AAGTGGAGAGCGTCCTTCAGA 0.343000 JPH1 56704 broad.mit.edu 37 8 75227106 75227106 + Missense_Mutation SNP C C G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr8:75227106C>G uc003yae.2 - 2 1169 c.1129G>C c.(1129-1131)GCA>CCA p.A377P JPH1_uc003yaf.2_Missense_Mutation_p.A377P|JPH1_uc003yag.1_Missense_Mutation_p.A241P NM_020647 NP_065698 Q9HDC5 JPH1_HUMAN junctophilin 1 377 Ala-rich.|Cytoplasmic (Potential). calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane ovary(1) 1 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) CTTGAATTTGCTATTTCCACT 0.443000 LRRCC1 85444 broad.mit.edu 37 8 86041417 86041417 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr8:86041417G>A uc003ycw.2 + 10 1583 c.1429G>A c.(1429-1431)GAA>AAA p.E477K LRRCC1_uc010lzz.1_Intron|LRRCC1_uc010maa.1_Missense_Mutation_p.E178K|LRRCC1_uc003ycx.2_Missense_Mutation_p.E384K|LRRCC1_uc003ycy.2_Missense_Mutation_p.E457K NM_033402 NP_208325 Q9C099 LRCC1_HUMAN sodium channel associated protein 2 isoform a 477 Potential. cell division|mitosis centriole|nucleus 0 TAGGCTAAAGGAAATTATTTT 0.303000 RIMS2 9699 broad.mit.edu 37 8 104955056 104955056 + Missense_Mutation SNP T T C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr8:104955056T>C uc003yls.2 + 12 2178 c.1937T>C c.(1936-1938)CTT>CCT p.L646P RIMS2_uc003ylp.2_Missense_Mutation_p.L868P|RIMS2_uc003ylw.2_Missense_Mutation_p.L660P|RIMS2_uc003ylq.2_Missense_Mutation_p.L660P|RIMS2_uc003ylr.2_Missense_Mutation_p.L707P|RIMS2_uc003ylt.2_Missense_Mutation_p.L253P NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 930 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) TGGTACAAACTTCAGACGCAT 0.413000 HNSCC(12;0.0054) ZFPM2 23414 broad.mit.edu 37 8 106813708 106813708 + Silent SNP T T C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr8:106813708T>C uc003ymd.2 + 8 1421 c.1398T>C c.(1396-1398)TCT>TCC p.S466S ZFPM2_uc011lhs.1_Silent_p.S197S NM_012082 NP_036214 Q8WW38 FOG2_HUMAN zinc finger protein, multitype 2 466 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding ovary(4)|large_intestine(1) 5 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) AAAGCTTTTCTTACACAAAAA 0.458000 PKHD1L1 93035 broad.mit.edu 37 8 110476639 110476639 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr8:110476639T>G uc003yne.2 + 49 7682 c.7578T>G c.(7576-7578)TTT>TTG p.F2526L NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 2526 PbH1 1.|Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GAGGAGCATTTTTTATAGAAG 0.388000 HNSCC(38;0.096) CSMD3 114788 broad.mit.edu 37 8 113237068 113237068 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr8:113237068C>T uc003ynu.2 - 71 11215 c.11056G>A c.(11056-11058)GCA>ACA p.A3686T CSMD3_uc003yns.2_Missense_Mutation_p.A2888T|CSMD3_uc003ynt.2_Missense_Mutation_p.A3646T|CSMD3_uc011lhx.1_Missense_Mutation_p.A3517T NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3686 Cytoplasmic (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 ACTGACTTTGCGTTGGTGTCA 0.443000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) CSMD3 114788 broad.mit.edu 37 8 113256779 113256779 + Missense_Mutation SNP T T A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr8:113256779T>A uc003ynu.2 - 65 10405 c.10246A>T c.(10246-10248)ACT>TCT p.T3416S CSMD3_uc003yns.2_Missense_Mutation_p.T2618S|CSMD3_uc003ynt.2_Missense_Mutation_p.T3376S|CSMD3_uc011lhx.1_Missense_Mutation_p.T3247S NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3416 Extracellular (Potential).|Sushi 28. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TGAGCAGGAGTTTCTGGCTGT 0.388000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) ZFAT 57623 broad.mit.edu 37 8 135521911 135521911 + Missense_Mutation SNP A A G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr8:135521911A>G uc003yup.2 - 15 3618 c.3443T>C c.(3442-3444)CTT>CCT p.L1148P ZFAT_uc011ljj.1_Missense_Mutation_p.L267P|ZFAT_uc003yun.2_Missense_Mutation_p.L1136P|ZFAT_uc003yuo.2_Missense_Mutation_p.L1136P|ZFAT_uc010meh.2_Intron|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.L1136P|ZFAT_uc010mej.2_Missense_Mutation_p.L1086P NM_020863 NP_065914 Q9P243 ZFAT_HUMAN zinc finger protein 406 isoform ZFAT-1 1148 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) CACCGAGGCAAGGGCAGTGGC 0.577000 FAM135B 51059 broad.mit.edu 37 8 139164740 139164740 + Missense_Mutation SNP C C A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr8:139164740C>A uc003yuy.2 - 13 2149 c.1978G>T c.(1978-1980)GAC>TAC p.D660Y FAM135B_uc003yux.2_Missense_Mutation_p.D561Y|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.D222Y|FAM135B_uc003yvb.2_Missense_Mutation_p.D222Y NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 660 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GTGTGAGAGTCCTTTAGGGAA 0.493000 HNSCC(54;0.14) BAI1 575 broad.mit.edu 37 8 143569806 143569806 + Nonsense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr8:143569806G>A uc003ywm.2 + 13 2573 c.2390G>A c.(2389-2391)TGG>TAG p.W797* NM_001702 NP_001693 O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 797 Extracellular (Potential). axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1) 8 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) ACGGGTGACTGGGCCAAGGTG 0.637000 SPAG8 26206 broad.mit.edu 37 9 35811809 35811809 + Silent SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr9:35811809C>T uc003zye.2 - 2 349 c.234G>A c.(232-234)GCG>GCA p.A78A SPAG8_uc003zyf.2_5'UTR|SPAG8_uc003zyg.2_Silent_p.A78A NM_172312 NP_758516 Q99932 SPAG8_HUMAN sperm associated antigen 8 isoform 2 78 acrosomal vesicle|membrane ovary(1) 1 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) CAGAACAGGGCGCTGGGGTCT 0.418000 TRPM6 140803 broad.mit.edu 37 9 77454993 77454993 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr9:77454993A>C uc004ajl.1 - 5 729 c.491T>G c.(490-492)GTT>GGT p.V164G TRPM6_uc004ajk.1_Missense_Mutation_p.V159G|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.V164G|TRPM6_uc010mpd.1_Missense_Mutation_p.V164G|TRPM6_uc010mpe.1_Missense_Mutation_p.V164G|TRPM6_uc004ajn.1_Missense_Mutation_p.V164G NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 164 Cytoplasmic (Potential). response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 8 TGCAGCTTTAACCAAACCTTG 0.348000 AGTPBP1 23287 broad.mit.edu 37 9 88203282 88203282 + Missense_Mutation SNP T T G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr9:88203282T>G uc011ltd.1 - 20 2867 c.2834A>C c.(2833-2835)CAG>CCG p.Q945P AGTPBP1_uc004aod.3_Missense_Mutation_p.Q571P|AGTPBP1_uc011ltc.1_Intron|AGTPBP1_uc010mqc.2_Missense_Mutation_p.Q905P|AGTPBP1_uc011lte.1_Missense_Mutation_p.Q957P NM_015239 NP_056054 Q9UPW5 CBPC1_HUMAN ATP/GTP binding protein 1 945 C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis cytosol|mitochondrion|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding ovary(4)|large_intestine(2)|skin(1) 7 TCGTAAGCTCTGAGCAGTGGG 0.368000 S1PR3 1903 broad.mit.edu 37 9 91616715 91616715 + Silent SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr9:91616715C>T uc004aqe.2 + 2 996 c.600C>T c.(598-600)TGC>TGT p.C200C NM_005226 NP_005217 Q99500 S1PR3_HUMAN sphingosine-1-phosphate receptor 3 200 Helical; Name=5; (By similarity). anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation integral to plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity ovary(2)|lung(1)|central_nervous_system(1)|skin(1) 5 TTGCCTTCTGCATCAGCATCT 0.572000 OREG0019291 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) IPPK 64768 broad.mit.edu 37 9 95400381 95400381 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr9:95400381G>A uc004asl.1 - 9 1095 c.818C>T c.(817-819)TCG>TTG p.S273L IPPK_uc004ask.1_5'Flank NM_022755 NP_073592 Q9H8X2 IPPK_HUMAN inositol 1,3,4,5,6-pentakisphosphate 2-kinase 273 inositol or phosphatidylinositol phosphorylation cytoplasm|nucleus ATP binding|inositol pentakisphosphate 2-kinase activity ovary(2) 2 GCCCTTGTCCGAGCCACTCAG 0.662000 ABCA1 19 broad.mit.edu 37 9 107645431 107645431 + Missense_Mutation SNP G G A rs141348278 TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr9:107645431G>A uc004bcl.2 - 5 623 c.310C>T c.(310-312)CGC>TGC p.R104C ABCA1_uc004bcm.2_Missense_Mutation_p.R44C NM_005502 NP_005493 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A member 1 104 Extracellular. Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) GAGAACAGGCGAGCCACACTG 0.483000 PAPPA 5069 broad.mit.edu 37 9 118949686 118949686 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr9:118949686A>C uc004bjn.2 + 2 1050 c.669A>C c.(667-669)CAA>CAC p.Q223H PAPPA_uc011lxp.1_Missense_Mutation_p.Q16H|PAPPA_uc011lxq.1_Missense_Mutation_p.Q16H NM_002581 NP_002572 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A 223 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding ovary(4)|skin(4)|pancreas(1) 9 CTGGGGAACAAGTGGGTGGCA 0.557000 ASTN2 23245 broad.mit.edu 37 9 119903754 119903754 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr9:119903754G>A uc004bjs.1 - 4 1120 c.1019C>T c.(1018-1020)GCA>GTA p.A340V ASTN2_uc004bjr.1_Missense_Mutation_p.A340V|ASTN2_uc004bjt.1_Intron NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 340 Cytoplasmic (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 CGCCTCAGCTGCTGCTATAAG 0.587000 NUP214 8021 broad.mit.edu 37 9 134015972 134015972 + Missense_Mutation SNP T T C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr9:134015972T>C uc004cag.2 + 11 1280 c.1169T>C c.(1168-1170)ATG>ACG p.M390T NUP214_uc004cah.2_Missense_Mutation_p.M390T|NUP214_uc004caf.1_Missense_Mutation_p.M390T NM_005085 NP_005076 P35658 NU214_HUMAN nucleoporin 214kDa 390 carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1) 16 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) CCAGTTCTCATGTTACTTTCA 0.373000 T DEK|SET|ABL1 AML|T-ALL C9orf98 158067 broad.mit.edu 37 9 135742311 135742311 + Missense_Mutation SNP C C T rs115599655 by1000genomes TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr9:135742311C>T uc004cbu.1 - 3 755 c.199G>A c.(199-201)GCC>ACC p.A67T C9orf98_uc010mzx.1_RNA|C9orf98_uc004cbv.1_5'UTR NM_152572 NP_689785 Q96MA6 KAD8_HUMAN putative adenylate kinase-like protein C9orf98 67 cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity 0 OV - Ovarian serous cystadenocarcinoma(145;4.89e-06)|Epithelial(140;0.00016) TTCCCTGAGGCGGGTGGACCT 0.458000 GTF3C5 9328 broad.mit.edu 37 9 135926199 135926199 + Missense_Mutation SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr9:135926199G>A uc004cci.3 + 4 939 c.602G>A c.(601-603)GGT>GAT p.G201D GTF3C5_uc010mzz.2_Missense_Mutation_p.G76D|GTF3C5_uc004ccj.3_Missense_Mutation_p.G201D NM_012087 NP_036219 Q9Y5Q8 TF3C5_HUMAN general transcription factor IIIC, polypeptide 5 201 transcription factor TFIIIC complex DNA binding|protein binding 0 OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05) CCCATCTCAGGTGAGAATCTG 0.607000 DMD 1756 broad.mit.edu 37 X 32490353 32490353 + Silent SNP T T C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chrX:32490353T>C uc004dda.1 - 22 3121 c.2877A>G c.(2875-2877)GAA>GAG p.E959E DMD_uc004dcz.2_Silent_p.E836E|DMD_uc004dcy.1_Silent_p.E955E|DMD_uc004ddb.1_Silent_p.E951E|DMD_uc010ngo.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 959 Spectrin 6. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) AGAGTTTGGTTTCTGACTGCT 0.433000 TIMM17B 10245 broad.mit.edu 37 X 48754135 48754135 + Nonsense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chrX:48754135C>T uc004dlc.1 - 3 182 c.33G>A c.(31-33)TGG>TGA p.W11* PQBP1_uc004dle.2_5'Flank|PQBP1_uc004dlf.2_5'Flank|PQBP1_uc004dlg.2_5'Flank|PQBP1_uc004dld.2_5'Flank|PQBP1_uc004dlh.2_5'Flank|PQBP1_uc004dli.2_5'Flank|PQBP1_uc004dlj.1_5'Flank|PQBP1_uc004dln.2_5'Flank|PQBP1_uc010nih.2_5'Flank|PQBP1_uc010nii.2_5'Flank|PQBP1_uc004dlk.2_5'Flank|PQBP1_uc004dll.2_5'Flank|PQBP1_uc004dlm.2_5'Flank|PQBP1_uc010nij.2_5'Flank|TIMM17B_uc004dla.1_Nonsense_Mutation_p.W11*|TIMM17B_uc004dlb.1_5'UTR NM_005834 NP_005825 O60830 TI17B_HUMAN translocase of inner mitochondrial membrane 17 11 protein targeting to mitochondrion integral to membrane|microtubule cytoskeleton|mitochondrial inner membrane presequence translocase complex P-P-bond-hydrolysis-driven protein transmembrane transporter activity ovary(1) 1 CCACAATTCGCCATGGGCTGC 0.557000 HUWE1 10075 broad.mit.edu 37 X 53610583 53610583 + Silent SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chrX:53610583G>A uc004dsp.2 - 42 5857 c.5455C>T c.(5455-5457)CTG>TTG p.L1819L HUWE1_uc004dsn.2_Silent_p.L644L NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 1819 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 AGGGTGACCAGGGGAGTAAAC 0.468000 USP51 158880 broad.mit.edu 37 X 55513611 55513611 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chrX:55513611A>C uc004dun.1 - 2 1841 c.1762T>G c.(1762-1764)TTA>GTA p.L588V USP51_uc011moo.1_Missense_Mutation_p.L292V NM_201286 NP_958443 Q70EK9 UBP51_HUMAN ubiquitin specific protease 51 588 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 ACAATGGGTAATTTTTTCATT 0.433000 LPAR4 2846 broad.mit.edu 37 X 78011422 78011422 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chrX:78011422A>C uc010nme.2 + 2 1461 c.1056A>C c.(1054-1056)GAA>GAC p.E352D NM_005296 NP_005287 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 352 Cytoplasmic (Potential). integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled ovary(3) 3 TTCAAGAGGAAGTGAGTGATC 0.403000 POU3F4 5456 broad.mit.edu 37 X 82763585 82763585 + Missense_Mutation SNP C C T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chrX:82763585C>T uc004eeg.2 + 1 317 c.253C>T c.(253-255)CGC>TGC p.R85C NM_000307 NP_000298 P49335 PO3F4_HUMAN POU domain, class 3, transcription factor 4 85 sensory perception of sound nucleus sequence-specific DNA binding transcription factor activity ovary(1) 1 GAAGCCCGGGCGCGAAGACCT 0.682000 XKRX 402415 broad.mit.edu 37 X 100177864 100177864 + Silent SNP G G A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chrX:100177864G>A uc004egn.2 - 2 1127 c.522C>T c.(520-522)ATC>ATT p.I174I XKRX_uc011mre.1_Intron NM_212559 NP_997724 Q6PP77 XKR2_HUMAN XK, Kell blood group complex subunit-related, 174 Helical; (Potential). integral to membrane|plasma membrane breast(1) 1 GGAAGGCTTGGATCTGTGACA 0.567000 COL4A5 1287 broad.mit.edu 37 X 107936061 107936061 + Missense_Mutation SNP A A G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chrX:107936061A>G uc004enz.1 + 49 4814 c.4612A>G c.(4612-4614)AGA>GGA p.R1538G COL4A5_uc011mso.1_Missense_Mutation_p.R1535G|COL4A5_uc011msp.1_Missense_Mutation_p.R214G NM_033380 NP_203699 P29400 CO4A5_HUMAN type IV collagen alpha 5 isoform 2 precursor 1532 Collagen IV NC1. axon guidance collagen type IV extracellular matrix structural constituent|protein binding ovary(3)|central_nervous_system(1) 4 CTTTGCTTCAAGAAATGACTA 0.478000 Alport_syndrome_with_Diffuse_Leiomyomatosis DCAF12L2 340578 broad.mit.edu 37 X 125298575 125298575 + Missense_Mutation SNP C C G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chrX:125298575C>G uc004euk.1 - 1 1360 c.1333G>C c.(1333-1335)GTG>CTG p.V445L NM_001013628 NP_001013650 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 445 lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1) 7 CCCCCAGCCACAAAGAGCTTC 0.552000 PASD1 139135 broad.mit.edu 37 X 150840247 150840247 + Missense_Mutation SNP A A C TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chrX:150840247A>C uc004fev.3 + 13 1765 c.1433A>C c.(1432-1434)AAC>ACC p.N478T NM_173493 NP_775764 Q8IV76 PASD1_HUMAN PAS domain containing 1 478 nucleus signal transducer activity ovary(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) GTTGCCTTCAACCAGGTATGG 0.453000 ADAMTSL1 92949 broad.mit.edu 37 9 18829843 18829843 + Splice_Site DEL C C - TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr9:18829842_18829842TC>T uc003zne.4 + 23 4267 c.4115_splice c.e23-1 p.D1372_splice ADAMTSL1_uc003znf.4_Splice_Site_p.D73_splice NM_001040272 NP_001035362 Q8N6G6 ATL1_HUMAN Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA. 1372 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) TTCTCACAGATCCCCCCCAAG 0.567 KSR2 283455 broad.mit.edu 37 12 118198972 118198972 + Frame_Shift_Del DEL G G - TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr12:118198972delG uc001two.2 - 4 798 c.743delC c.(742-744)CCGfs p.P248fs NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 277 Pro-rich. intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1) 15 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CCTCATGGGCGGCGTGCCCGG 0.706 PSMC5 5705 broad.mit.edu 37 17 61907794 61907796 + In_Frame_Del DEL AAG AAG - TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr17:61907794_61907796delAAG uc002jcb.2 + 6 526_528 c.485_487delAAG c.(484-489)AAAGAA>AAA p.E163del FTSJ3_uc002jca.2_5'Flank|PSMC5_uc010ddy.2_In_Frame_Del_p.E140del|PSMC5_uc010ddz.2_In_Frame_Del_p.E84del|PSMC5_uc002jcc.2_In_Frame_Del_p.E155del|PSMC5_uc002jcd.2_In_Frame_Del_p.E155del NM_002805 NP_002796 P62195 PRS8_HUMAN proteasome 26S ATPase subunit 5 163 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding large_intestine(1) 1 AAGGAGATCAAAGAAGTGATCGA 0.493 PIGN 23556 broad.mit.edu 37 18 59742019 59742021 + In_Frame_Del DEL ATA ATA - TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr18:59742019_59742021delATA uc002lii.3 - 30 3058_3060 c.2610_2612delTAT c.(2608-2613)ATTATG>ATG p.I870del PIGN_uc002lij.3_In_Frame_Del_p.I870del NM_176787 NP_789744 O95427 PIGN_HUMAN phosphatidylinositol glycan anchor biosynthesis, 870 Helical; (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane phosphotransferase activity, for other substituted phosphate groups breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 5 Colorectal(73;0.187) TACCAAAGCCATAATGTCTGATA 0.315 KLF1 10661 broad.mit.edu 37 19 12996345 12996345 + Frame_Shift_Del DEL G G - TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr19:12996345delG uc002mvo.2 - 2 762 c.699delC c.(697-699)CCCfs p.P233fs NM_006563 NP_006554 Q13351 KLF1_HUMAN erythroid Kruppel-like factor 233 Pro-rich. erythrocyte differentiation|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding 0 Hepatocellular(1079;0.137) GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18) TCAGGAAGGAGGGGGACGTGG 0.687 APC 324 broad.mit.edu 37 5 112175951 112175952 + Frame_Shift_Ins INS - - A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr5:112175951_112175952insA uc010jby.2 + 16 5040_5041 c.4660_4661insA c.(4660-4662)GAAfs p.E1554fs APC_uc011cvt.1_Frame_Shift_Ins_p.E1536fs|APC_uc003kpz.3_Frame_Shift_Ins_p.E1554fs|APC_uc003kpy.3_Frame_Shift_Ins_p.E1554fs|APC_uc010jbz.2_Frame_Shift_Ins_p.E1271fs|APC_uc010jca.2_Frame_Shift_Ins_p.E854fs NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 1554 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.T1556fs*3(35)|p.E1554fs*5(2)|p.E1554*(2)|p.?(1)|p.T1556fs*9(1)|p.K1192fs*3(1)|p.?fs(1)|p.E1554fs*11(1) large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1) 2515 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) GAAAGAGGCAGAAAAAACTATT 0.342 12 D|Mis|N|F|S colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome TSP Lung(16;0.13) ATRX 546 broad.mit.edu 37 X 76937769 76937770 + Frame_Shift_Ins INS - - T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chrX:76937769_76937770insT uc004ecp.3 - 9 3210_3211 c.2978_2979insA c.(2977-2979)AAGfs p.K993fs ATRX_uc004ecq.3_Frame_Shift_Ins_p.K955fs|ATRX_uc004eco.3_Frame_Shift_Ins_p.K778fs|ATRX_uc004ecr.2_Frame_Shift_Ins_p.K925fs|ATRX_uc010nlx.1_Frame_Shift_Ins_p.K964fs|ATRX_uc010nly.1_Frame_Shift_Ins_p.K938fs NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 993 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) CTGAAGGTTTCTTTTTTTCTTC 0.347 Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome CYLC1 1538 broad.mit.edu 37 X 83129336 83129336 + Frame_Shift_Del DEL T T - TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chrX:83129336delT uc004eei.1 + 4 1641 c.1620delT c.(1618-1620)GGTfs p.G540fs CYLC1_uc004eeh.1_Frame_Shift_Del_p.G539fs NM_021118 NP_066941 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head 540 8.|8 X approximate tandem repeats. cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity ovary(4)|skin(1) 5 AAATCAAAGGTTCAGATACTG 0.373 DUSP9 1852 broad.mit.edu 37 X 152915673 152915674 + Frame_Shift_Ins INS - - G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chrX:152915673_152915674insG uc004fhx.3 + 4 1272_1273 c.1068_1069insG c.(1066-1071)AGTGGGfs p.S356fs DUSP9_uc004fhy.3_Frame_Shift_Ins_p.S356fs NM_001395 NP_001386 Q99956 DUS9_HUMAN dual specificity phosphatase 9 356_357 Tyrosine-protein phosphatase. inactivation of MAPK activity|JNK cascade cytosol|endoplasmic reticulum|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity ovary(2) 2 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) AGCAGGGCAGTGGGGGGCAGGC 0.658 APC 324 broad.mit.edu 37 5 112175952 112175953 + Frame_Shift_Ins INS - - A TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr5:112175951_112175952G>GA uc003kpz.4 + 16 4853_4854 c.4660_4661G>GA c.(4660-4662)gaafs p.E1554fs APC_uc011cvt.2_Frame_Shift_Ins_p.E1536fs|APC_uc003kpy.4_Frame_Shift_Ins_p.E1554fs|APC_uc010jbz.3_Frame_Shift_Ins_p.E1271fs|APC_uc010jca.3_Frame_Shift_Ins_p.E854fs NM_001127510 NP_001120982 P25054 APC_HUMAN Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA. 1554 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.T1556fs*3(42)|p.E1554fs*5(4)|p.E1554*(3)|p.E1554fs*3(2)|p.?(1)|p.T1556fs*9(1)|p.?fs(1)|p.K1192fs*3(1)|p.E1554fs*11(1)|p.A1553fs*14(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) GAAAGAGGCAGAAAAAACTATT 0.342 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) ADAMTSL1 92949 broad.mit.edu 37 9 18829843 18829843 + Splice_Site DEL C C - TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr9:18829842_18829842TC>T uc003zne.4 + 23 4267 c.4115_splice c.e23-1 p.D1372_splice ADAMTSL1_uc003znf.4_Splice_Site_p.D73_splice NM_001040272 NP_001035362 Q8N6G6 ATL1_HUMAN Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA. 1372 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) TTCTCACAGATCCCCCCCAAG 0.567 ZNF79 7633 broad.mit.edu 37 9 130207312 130207313 + Frame_Shift_Del DEL TA TA - TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr9:130207311_130207312TTA>T uc004bqw.4 + 4 1746_1747 c.1332_1333TTA>T c.(1330-1335)ccttatfs p.P444fs ZNF79_uc011maf.2_Frame_Shift_Del_p.P420fs|ZNF79_uc011mag.2_Frame_Shift_Del_p.P420fs NM_007135 NP_009066 Q15937 ZNF79_HUMAN Homo sapiens zinc finger protein 79 (ZNF79), mRNA. 444 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2) 28 GAGAAAAACCTTATGAGTGTAA 0.460 EFCAB5 374786 broad.mit.edu 37 17 28384852 28384853 + Frame_Shift_Ins INS - - T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr17:28384851_28384852C>CT uc002het.3 + 12 2715_2716 c.2523_2524C>CT c.(2521-2526)tcctttfs p.S841fs EFCAB5_uc010wbj.2_Frame_Shift_Ins_p.S785fs|EFCAB5_uc010wbk.2_Frame_Shift_Ins_p.S498fs|EFCAB5_uc010csd.3_Non-coding_Transcript|EFCAB5_uc010cse.3_Intron|EFCAB5_uc010csf.3_Frame_Shift_Ins_p.S720fs NM_198529 NP_940931 A4FU69 EFCB5_HUMAN Homo sapiens EF-hand calcium binding domain 5 (EFCAB5), transcript variant 1, mRNA. 841 calcium ion binding breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 CTCTCACCTCCTTTTTTAAGGA 0.406 BZRAP1 9256 broad.mit.edu 37 17 56386384 56386385 + Frame_Shift_Ins INS - - T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr17:56386383_56386384C>CT uc002ivx.4 - 21 5120_5121 c.4249_4250G>AG c.(4249-4251)agcfs p.S1417fs BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs NM_004758 NP_004749 O95153 RIMB1_HUMAN Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA. 1417 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCGCCTGCGGCTTGGGGGCTTC 0.653 VAPA 9218 broad.mit.edu 37 18 9931832 9931846 + In_Frame_Del DEL AAATCTTAAATTGCG AAATCTTAAATTGCG - TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chr18:9931831_9931845CAAATCTTAAATTGCG>C uc002kok.3 + 1 403_417 c.104_118CAAATCTTAAATTGCG>C c.(103-120)acaaatcttaaattgcga>aCga p.NLKLR36del VAPA_uc002koj.3_In_Frame_Del_p.NLKLR36del NM_194434 NP_919415 Q9P0L0 VAPA_HUMAN Homo sapiens VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa (VAPA), transcript variant 2, mRNA. 36 MSP. cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle protein heterodimerization activity|signal transducer activity|structural molecule activity breast(1)|lung(2)|prostate(1) 4 GTAGTCACTACAAATCTTAAATTGCGAAATCCATC 0.381 ATRX 546 broad.mit.edu 37 X 76937770 76937771 + Frame_Shift_Ins INS - - T TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chrX:76937769_76937770C>CT uc004ecp.4 - 8 3210_3211 c.2978_2979G>AG c.(2977-2979)aagfs p.K993fs ATRX_uc004ecq.4_Frame_Shift_Ins_p.K955fs|ATRX_uc004eco.4_Frame_Shift_Ins_p.K778fs|ATRX_uc004ecr.2_Frame_Shift_Ins_p.K925fs|ATRX_uc010nlx.1_Frame_Shift_Ins_p.K964fs|ATRX_uc010nly.1_Frame_Shift_Ins_p.K938fs NM_000489 NP_000480 P46100 ATRX_HUMAN Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA. 993 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) CTGAAGGTTTCTTTTTTTCTTC 0.347 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome DUSP9 1852 broad.mit.edu 37 X 152915674 152915675 + Frame_Shift_Ins INS - - G TCGA-CD-8535-01A-11D-2340-08 TCGA-CD-8535-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bf27b50-c850-413f-8c3c-c70f47612721 10b5ccce-a8cf-45c5-bef4-4b452366c67e g.chrX:152915673_152915674T>TG uc004fhx.4 + 3 1272_1273 c.1068_1069T>TG c.(1066-1071)agtgggfs p.S356fs DUSP9_uc004fhy.4_Frame_Shift_Ins_p.S356fs NM_001395 NP_001386 Q99956 DUS9_HUMAN Homo sapiens dual specificity phosphatase 9 (DUSP9), mRNA. 356 Tyrosine-protein phosphatase. JNK cascade|inactivation of MAPK activity cytosol|endoplasmic reticulum|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity p.S356I(1)|p.G355S(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1) 16 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) AGCAGGGCAGTGGGGGGCAGGC 0.658