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 ACOT11 26027 broad.mit.edu 37 1 55096492 55096492 + Missense_Mutation SNP G A A TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr1:55096492G>A uc001cxm.1 + 16 1797 c.1715G>A c.(1714-1716)CGC>CAC p.R572H NM_015547 NP_056362 Q8WXI4 ACO11_HUMAN thioesterase, adipose associated isoform BFIT1 572 START. fatty acid metabolic process|intracellular signal transduction|response to cold acyl-CoA thioesterase activity|carboxylesterase activity central_nervous_system(1) 1 tcaaagggtcgcaggagcgac 0.000 PGM1 5236 broad.mit.edu 37 1 64100595 64100595 + Missense_Mutation SNP C T T TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr1:64100595C>T uc001dbh.2 + 5 991 c.778C>T c.(778-780)CAC>TAC p.H260Y PGM1_uc010ooy.1_Missense_Mutation_p.H63Y|PGM1_uc010ooz.1_Missense_Mutation_p.H278Y NM_002633 NP_002624 P36871 PGM1_HUMAN phosphoglucomutase 1 260 cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity ovary(2)|kidney(1) 3 CTTTGGAGGCCACCACCCTGA 0.547 TCHH 7062 broad.mit.edu 37 1 152084715 152084735 + In_Frame_Del DEL CTCCTGCTGCTCGCGCCTCTC - - TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr1:152084715_152084735delCTCCTGCTGCTCGCGCCTCTC uc001ezp.2 - 2 958_978 c.958_978delGAGAGGCGCGAGCAGCAGGAG c.(958-978)GAGAGGCGCGAGCAGCAGGAGdel p.ERREQQE320del TCHH_uc009wne.1_In_Frame_Del_p.ERREQQE320del NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 320_326 5 X 13 AA tandem repeats of R-R-E-Q-E-E- E-R-R-E-Q-Q-L.|1-1; approximate. keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) gctcgcgcctctcctgctgctcgcgcctctcctcctgctgc 0.072 HMCN1 83872 broad.mit.edu 37 1 185956668 185956668 + Missense_Mutation SNP T C C TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr1:185956668T>C uc001grq.1 + 20 3269 c.3040T>C c.(3040-3042)TGG>CGG p.W1014R HMCN1_uc001grr.1_Missense_Mutation_p.W355R NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 1014 Ig-like C2-type 7. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 GTCTGTCATCTGGTCCAAGGT 0.453 CFHR5 81494 broad.mit.edu 37 1 196964877 196964877 + Missense_Mutation SNP A T T TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr1:196964877A>T uc001gts.3 + 5 766 c.638A>T c.(637-639)CAA>CTA p.Q213L NM_030787 NP_110414 Q9BXR6 FHR5_HUMAN complement factor H-related 5 precursor 213 Sushi 4. complement activation, alternative pathway extracellular region breast(1)|skin(1) 2 CCACCTCCTCAACTCTCCAAT 0.333 OBSCN 84033 broad.mit.edu 37 1 228400217 228400217 + Missense_Mutation SNP C T T TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr1:228400217C>T uc009xez.1 + 2 777 c.733C>T c.(733-735)CGC>TGC p.R245C OBSCN_uc001hsn.2_Missense_Mutation_p.R245C|uc001hsm.1_Intron NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 245 Ig-like 3. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) CACCGGCACGCGCACCTGCAC 0.746 KIAA1804 84451 broad.mit.edu 37 1 233511808 233511808 + Missense_Mutation SNP G C C TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr1:233511808G>C uc001hvt.3 + 7 2083 c.1822G>C c.(1822-1824)GAA>CAA p.E608Q KIAA1804_uc001hvu.3_Missense_Mutation_p.E54Q NM_032435 NP_115811 Q5TCX8 M3KL4_HUMAN mixed lineage kinase 4 608 activation of JUN kinase activity|protein autophosphorylation ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity lung(5)|central_nervous_system(2)|skin(1) 8 all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122) AGATTGCAAAGAAAGGTACGT 0.348 TARBP1 6894 broad.mit.edu 37 1 234541656 234541656 + Missense_Mutation SNP C T T TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr1:234541656C>T uc001hwd.2 - 24 3982 c.3982G>A c.(3982-3984)GGA>AGA p.G1328R NM_005646 NP_005637 Q13395 TARB1_HUMAN TAR RNA binding protein 1 1328 regulation of transcription from RNA polymerase II promoter|RNA processing nucleus RNA binding|RNA methyltransferase activity ovary(2)|skin(1) 3 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) TACCCTGCTCCGTGCATGCTT 0.532 CUBN 8029 broad.mit.edu 37 10 16994307 16994307 + Frame_Shift_Del DEL T - - TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr10:16994307delT uc001ioo.2 - 33 4989 c.4937delA c.(4936-4938)AACfs p.N1646fs NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 1646 CUB 11. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CCAGCTGCAGTTCTGATTGTT 0.478 PTEN 5728 broad.mit.edu 37 10 89711928 89711928 + Frame_Shift_Del DEL A - - TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr10:89711928delA uc001kfb.2 + 7 1577 c.546delA c.(544-546)TTAfs p.L182fs NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 182 Phosphatase tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R55fs*1(4)|p.V166fs*17(3)|p.?(3)|p.G165fs*9(3)|p.L182fs*16(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.G165_K342del(1)|p.G165_*404del(1)|p.K183fs*7(1)|p.L182F(1)|p.V175fs*3(1)|p.L182*(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) GCTACCTGTTAAAGAATCATC 0.388 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) SORCS3 22986 broad.mit.edu 37 10 106960921 106960921 + Missense_Mutation SNP G A A TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr10:106960921G>A uc001kyi.1 + 16 2398 c.2171G>A c.(2170-2172)CGT>CAT p.R724H SORCS3_uc010qqz.1_RNA NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 724 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) TTCAAGAAACGTAAGCCAGGA 0.468 OR51G1 79324 broad.mit.edu 37 11 4944755 4944755 + Missense_Mutation SNP C T T rs146006146 by1000genomes TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr11:4944755C>T uc010qyr.1 - 1 815 c.815G>A c.(814-816)CGC>CAC p.R272H NM_001005237 NP_001005237 Q8NGK1 O51G1_HUMAN olfactory receptor, family 51, subfamily G, 272 Extracellular (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) GTGTACAACGCGGGGCAGATG 0.502 LPXN 9404 broad.mit.edu 37 11 58338166 58338166 + Missense_Mutation SNP C T T TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr11:58338166C>T uc001nmw.2 - 2 179 c.34G>A c.(34-36)GAA>AAA p.E12K LPXN_uc009ymp.2_5'UTR|LPXN_uc010rkj.1_Missense_Mutation_p.E17K|LPXN_uc010rkk.1_Nonsense_Mutation_p.W7* NM_004811 NP_004802 O60711 LPXN_HUMAN leupaxin isoform 2 12 LD motif 1. cell adhesion|protein complex assembly|signal transduction cytoplasm zinc ion binding ovary(1) 1 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) GTGGAGCGTTCCAGTTCCTCC 0.433 DAGLA 747 broad.mit.edu 37 11 61511463 61511463 + Silent SNP C T T TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr11:61511463C>T uc001nsa.2 + 20 2742 c.2631C>T c.(2629-2631)GAC>GAT p.D877D NM_006133 NP_006124 Q9Y4D2 DGLA_HUMAN neural stem cell-derived dendrite regulator 877 Cytoplasmic (Potential). cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity ovary(2)|central_nervous_system(1) 3 READ - Rectum adenocarcinoma(4;0.219) CGGCCAATGACGAGGAGGAAG 0.726 NOX4 50507 broad.mit.edu 37 11 89106662 89106663 + Splice_Site INS - A A rs56022003 TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr11:89106662_89106663insA uc001pct.2 - 12 1314 c.1075_splice c.e12-1 p.C359_splice NOX4_uc009yvr.2_Splice_Site_p.C334_splice|NOX4_uc001pcu.2_Splice_Site_p.C285_splice|NOX4_uc001pcw.2_Splice_Site_p.C52_splice|NOX4_uc001pcx.2_Splice_Site_p.C52_splice|NOX4_uc001pcv.2_Splice_Site_p.C359_splice|NOX4_uc009yvo.2_Splice_Site|NOX4_uc010rtu.1_Splice_Site_p.C193_splice|NOX4_uc009yvp.2_Intron|NOX4_uc010rtv.1_Splice_Site_p.C335_splice|NOX4_uc009yvq.2_Splice_Site_p.C335_splice NM_016931 NP_058627 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 isoform a cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity ovary(1)|central_nervous_system(1) 2 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) AGTTGGACACTAAAAAAAAATA 0.292 TRIM49 57093 broad.mit.edu 37 11 89531775 89531775 + Silent SNP T C C TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr11:89531775T>C uc001pdb.2 - 8 1211 c.882A>G c.(880-882)GAA>GAG p.E294E NM_020358 NP_065091 P0CI25 TRI49_HUMAN ring finger protein 18 294 B30.2/SPRY. intracellular zinc ion binding 0 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) TGTTGGCTTCTTCATGATGCA 0.313 BARX2 8538 broad.mit.edu 37 11 129306839 129306839 + Silent SNP G A A TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr11:129306839G>A uc001qfc.3 + 2 431 c.381G>A c.(379-381)ACG>ACA p.T127T NM_003658 NP_003649 Q9UMQ3 BARX2_HUMAN BarH-like homeobox 2 127 0 all_hematologic(175;0.0749) Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253) AACAGCCCACGCCCCGACAGA 0.637 SLC38A4 55089 broad.mit.edu 37 12 47186771 47186771 + Silent SNP G A A TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr12:47186771G>A uc001rpi.2 - 3 483 c.84C>T c.(82-84)ATC>ATT p.I28I SLC38A4_uc001rpj.2_Silent_p.I28I|SLC38A4_uc009zkl.2_Silent_p.I28I NM_018018 NP_060488 Q969I6 S38A4_HUMAN solute carrier family 38, member 4 28 Cytoplasmic (Potential). cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity ovary(2)|central_nervous_system(1)|skin(1) 4 Lung SC(27;0.192)|Renal(347;0.236) TTCCTATCCCGATGTAGCTAT 0.438 TRHDE 29953 broad.mit.edu 37 12 73046870 73046870 + Missense_Mutation SNP G A A TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr12:73046870G>A uc001sxa.2 + 17 2813 c.2783G>A c.(2782-2784)CGA>CAA p.R928Q NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 928 Extracellular (Potential). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 CATGTAGCTCGAAATCCACAT 0.353 SLC5A8 160728 broad.mit.edu 37 12 101588904 101588904 + Missense_Mutation SNP G A A TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr12:101588904G>A uc001thz.3 - 4 896 c.506C>T c.(505-507)ACG>ATG p.T169M NM_145913 NP_666018 Q8N695 SC5A8_HUMAN solute carrier family 5 (iodide transporter), 169 Helical; (Potential). apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity 0 GACCACCCCCGTTGCCACTAC 0.398 TMEM132D 121256 broad.mit.edu 37 12 130185158 130185158 + Silent SNP G A A TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr12:130185158G>A uc009zyl.1 - 2 493 c.165C>T c.(163-165)AAC>AAT p.N55N NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 55 Extracellular (Potential). integral to membrane p.N55T(1) ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) AGACGTCCGCGTTGTTGATGT 0.547 MTUS2 23281 broad.mit.edu 37 13 29599206 29599206 + Missense_Mutation SNP C T T TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr13:29599206C>T uc001usl.3 + 1 459 c.401C>T c.(400-402)ACG>ATG p.T134M NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN hypothetical protein LOC23281 isoform a 124 cytoplasm|microtubule microtubule binding|protein homodimerization activity 0 CTGCAGACCACGCGGAGTATT 0.502 KIF26A 26153 broad.mit.edu 37 14 104641823 104641823 + Nonsense_Mutation SNP C T T TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr14:104641823C>T uc001yos.3 + 12 2698 c.2698C>T c.(2698-2700)CGA>TGA p.R900* NM_015656 NP_056471 Q9ULI4 KI26A_HUMAN kinesin family member 26A 900 blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity pancreas(1) 1 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) CAGCACCCCTCGAGGCAGTTC 0.692 CA12 771 broad.mit.edu 37 15 63618489 63618489 + Missense_Mutation SNP C T T TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr15:63618489C>T uc002amc.2 - 11 1216 c.1060G>A c.(1060-1062)GCT>ACT p.A354T CA12_uc002amd.2_Missense_Mutation_p.A343T|CA12_uc002ame.2_Missense_Mutation_p.A283T NM_001218 NP_001209 O43570 CAH12_HUMAN carbonic anhydrase XII isoform 1 precursor 354 Cytoplasmic (Potential). one-carbon metabolic process integral to membrane carbonate dehydratase activity|zinc ion binding ovary(1) 1 Acetazolamide(DB00819) GGACCTCAAGCGTGGGCCTCA 0.507 GOLGA6B 55889 broad.mit.edu 37 15 72954612 72954612 + Silent SNP G A A TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr15:72954612G>A uc010uks.1 + 11 908 c.867G>A c.(865-867)GCG>GCA p.A289A NM_018652 NP_061122 A6NDN3 GOG6B_HUMAN golgi autoantigen, golgin subfamily a, 6B 289 Potential. 0 CATCCCTGGCGCCCCCAGCAG 0.537 C16orf61 56942 broad.mit.edu 37 16 81015432 81015432 + Silent SNP C T T TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr16:81015432C>T uc002ffu.2 - 3 331 c.132G>A c.(130-132)TTG>TTA p.L44L C16orf61_uc002ffv.2_Intron NM_020188 NP_064573 Q9NRP2 CP061_HUMAN hypothetical protein LOC56942 44 0 GGCATTTTCTCAACTCCCGAT 0.323 AURKB 9212 broad.mit.edu 37 17 8108652 8108652 + Missense_Mutation SNP C T T TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr17:8108652C>T uc002gkm.2 - 8 804 c.743G>A c.(742-744)CGC>CAC p.R248H AURKB_uc010cnu.2_Missense_Mutation_p.R68H|AURKB_uc002gkn.2_Missense_Mutation_p.R249H|AURKB_uc010vuu.1_Missense_Mutation_p.R207H|AURKB_uc002gko.2_RNA NM_004217 NP_004208 Q96GD4 AURKB_HUMAN aurora kinase B 248 Protein kinase. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity lung(2)|breast(1)|central_nervous_system(1) 4 ATTGTGCATGCGCCCCTCAAT 0.572 KRT20 54474 broad.mit.edu 37 17 39041110 39041110 + Missense_Mutation SNP C T T TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr17:39041110C>T uc002hvl.2 - 1 370 c.328G>A c.(328-330)GCC>ACC p.A110T NM_019010 NP_061883 P35900 K1C20_HUMAN keratin 20 110 Rod.|Linker 1. apoptosis|intermediate filament organization Golgi apparatus|intermediate filament protein binding|structural constituent of cytoskeleton large_intestine(1)|kidney(1)|skin(1) 3 Breast(137;0.000301)|Ovarian(249;0.15) GCCCTCGGGGCGTTGGTTTCG 0.498 PLEKHH3 79990 broad.mit.edu 37 17 40823101 40823101 + Silent SNP G A A TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr17:40823101G>A uc002iau.2 - 9 1799 c.1332C>T c.(1330-1332)AAC>AAT p.N444N PLEKHH3_uc010cyl.1_Intron|PLEKHH3_uc002iat.1_RNA|PLEKHH3_uc002iav.2_RNA|PLEKHH3_uc010cym.1_Intron|PLEKHH3_uc002iaw.2_Silent_p.N444N NM_024927 NP_079203 Q7Z736 PKHH3_HUMAN pleckstrin homology domain containing, family H 444 FERM. signal transduction cytoskeleton large_intestine(1)|ovary(1) 2 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.14) GCGCGAATGCGTTGCGGCTCC 0.657 ST8SIA5 29906 broad.mit.edu 37 18 44260326 44260326 + Silent SNP C T T TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr18:44260326C>T uc002lcj.1 - 7 1378 c.810G>A c.(808-810)TCG>TCA p.S270S ST8SIA5_uc002lci.1_Silent_p.S117S|ST8SIA5_uc010xcy.1_Silent_p.S306S|ST8SIA5_uc010xcz.1_Silent_p.S239S NM_013305 NP_037437 O15466 SIA8E_HUMAN ST8 alpha-N-acetyl-neuraminide 270 Lumenal (Potential). glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 3 CAGCTTGCGGCGATTCGAAGT 0.617 HOOK2 29911 broad.mit.edu 37 19 12874555 12874555 + Missense_Mutation SNP G A A TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr19:12874555G>A uc002muy.2 - 21 2036 c.1865C>T c.(1864-1866)GCG>GTG p.A622V HOOK2_uc010xmq.1_Missense_Mutation_p.A27V|HOOK2_uc002muz.2_Missense_Mutation_p.A620V NM_013312 NP_037444 Q96ED9 HOOK2_HUMAN hook homolog 2 isoform 1 622 Sufficient for interaction with CEP110.|Required for localization to the centrosome and induction of aggresome formation. early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport centrosome|FHF complex|microtubule identical protein binding|microtubule binding ovary(1)|breast(1)|skin(1) 3 AGGTGCCCCCGCAGCTGGCCG 0.602 MAST3 23031 broad.mit.edu 37 19 18255858 18255858 + Missense_Mutation SNP C G G TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr19:18255858C>G uc002nhz.3 + 23 2771 c.2771C>G c.(2770-2772)TCT>TGT p.S924C NM_015016 NP_055831 O60307 MAST3_HUMAN microtubule associated serine/threonine kinase 924 Ser-rich. ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity large_intestine(2)|ovary(2)|stomach(1) 5 TCCCCGCGCTCTCTGTCCTCG 0.682 ZNF569 148266 broad.mit.edu 37 19 37903536 37903536 + Missense_Mutation SNP G A A TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr19:37903536G>A uc002ogi.2 - 6 2582 c.2024C>T c.(2023-2025)TCG>TTG p.S675L ZNF569_uc002ogh.2_Missense_Mutation_p.S516L|ZNF569_uc002ogj.2_Missense_Mutation_p.S699L NM_152484 NP_689697 Q5MCW4 ZN569_HUMAN zinc finger protein 569 675 C2H2-type 18. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|skin(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AACAAGGTGCGACTTTTGGCT 0.413 MED29 55588 broad.mit.edu 37 19 39883120 39883120 + Missense_Mutation SNP C T T TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr19:39883120C>T uc002olf.2 + 2 333 c.296C>T c.(295-297)GCG>GTG p.A99V PAF1_uc002old.2_5'Flank|PAF1_uc002ole.1_5'Flank|PAF1_uc010xuv.1_5'Flank|MED29_uc010xuw.1_Missense_Mutation_p.A99V|MED29_uc010xux.1_Intron NM_017592 NP_060062 Q9NX70 MED29_HUMAN mediator complex subunit 29 78 Gln-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent mediator complex protein binding ovary(1)|pancreas(1) 2 all_cancers(60;7.82e-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;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) ATGAAGGTTGCGGCCCAAAAC 0.418 ZNF229 7772 broad.mit.edu 37 19 44932748 44932748 + Silent SNP G A A TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr19:44932748G>A uc002oze.1 - 6 2642 c.2208C>T c.(2206-2208)GGC>GGT p.G736G ZNF229_uc010ejk.1_Silent_p.G390G|ZNF229_uc010ejl.1_Silent_p.G730G NM_014518 NP_055333 Q9UJW7 ZN229_HUMAN zinc finger protein 229 736 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|pancreas(1) 4 Prostate(69;0.0352) ATGGCTTCTCGCCAGTGTGCA 0.488 HIF3A 64344 broad.mit.edu 37 19 46825102 46825102 + Missense_Mutation SNP A C C TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr19:46825102A>C uc002peh.2 + 10 1243 c.1214A>C c.(1213-1215)GAC>GCC p.D405A HIF3A_uc002peg.3_Missense_Mutation_p.D405A|HIF3A_uc010xxx.1_RNA|HIF3A_uc002pei.3_Missense_Mutation_p.D349A|HIF3A_uc002pej.1_Missense_Mutation_p.D336A|HIF3A_uc002pek.2_Missense_Mutation_p.D349A|HIF3A_uc010xxy.1_Missense_Mutation_p.D336A|HIF3A_uc002pel.2_Missense_Mutation_p.D403A|HIF3A_uc010xxz.1_Missense_Mutation_p.D354A NM_152795 NP_690008 Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 405 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) CTGGCCGCTGACCCCCGCCGT 0.692 GRIN2D 2906 broad.mit.edu 37 19 48919313 48919313 + Missense_Mutation SNP C T T TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr19:48919313C>T uc002pjc.3 + 7 1724 c.1636C>T c.(1636-1638)CGC>TGC p.R546C NM_000836 NP_000827 O15399 NMDE4_HUMAN N-methyl-D-aspartate receptor subunit 2D 546 Extracellular (Potential). cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|protein binding ovary(3)|breast(3) 6 all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161) L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173) CAACGAGGAGCGCTCCGAGAT 0.672 ZNF320 162967 broad.mit.edu 37 19 53384360 53384360 + Missense_Mutation SNP C T T TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr19:53384360C>T uc002qag.2 - 4 1210 c.1019G>A c.(1018-1020)CGC>CAC p.R340H ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Missense_Mutation_p.R286H|ZNF320_uc002qai.2_Missense_Mutation_p.R340H NM_207333 NP_997216 A2RRD8 ZN320_HUMAN zinc finger protein 320 340 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0534) ATGTGATTTGCGACTGAAAAC 0.428 ZNF677 342926 broad.mit.edu 37 19 53741592 53741592 + Missense_Mutation SNP G T T TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr19:53741592G>T uc002qbf.1 - 5 573 c.388C>A c.(388-390)CAC>AAC p.H130N ZNF677_uc002qbg.1_Missense_Mutation_p.H130N NM_182609 NP_872415 Q86XU0 ZN677_HUMAN zinc finger protein 677 130 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.00352) TCTTTTCTGTGAGTGAGATTT 0.353 ABCB11 8647 broad.mit.edu 37 2 169783711 169783711 + Silent SNP A T T TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr2:169783711A>T uc002ueo.1 - 26 3699 c.3573T>A c.(3571-3573)GCT>GCA p.A1191A ABCB11_uc010zda.1_Silent_p.A609A|ABCB11_uc010zdb.1_Silent_p.A667A NM_003742 NP_003733 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), 1191 Cytoplasmic (Potential).|ABC transporter 2. bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism ovary(2)|large_intestine(2)|breast(1) 5 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) CCTGTTTTGCAGCTGCTATGA 0.453 MFSD6 54842 broad.mit.edu 37 2 191301881 191301881 + Missense_Mutation SNP G T T rs147647208 TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr2:191301881G>T uc002urz.2 + 3 1450 c.1126G>T c.(1126-1128)GGC>TGC p.G376C NM_017694 NP_060164 Q6ZSS7 MFSD6_HUMAN major facilitator superfamily domain containing 376 Helical; (Potential). transmembrane transport integral to membrane ovary(2) 2 CATCGTCTTCGGCGTTCTCAT 0.517 DNPEP 23549 broad.mit.edu 37 2 220246112 220246112 + Missense_Mutation SNP G A A TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr2:220246112G>A uc010zlg.1 - 13 1290 c.1208C>T c.(1207-1209)GCG>GTG p.A403V DNPEP_uc010zlf.1_RNA|DNPEP_uc002vle.2_Missense_Mutation_p.A395V|DNPEP_uc002vlf.1_Missense_Mutation_p.A381V|DNPEP_uc002vlh.2_Missense_Mutation_p.A342V|DNPEP_uc002vli.1_Missense_Mutation_p.A342V NM_012100 NP_036232 Q9ULA0 DNPEP_HUMAN aspartyl aminopeptidase 385 peptide metabolic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding 0 Renal(207;0.0474) Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) L-Glutamic Acid(DB00142) CTCTGACACCGCGTTTGAAGC 0.597 AGXT 189 broad.mit.edu 37 2 241808652 241808652 + Silent SNP C T T TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr2:241808652C>T uc002waa.3 + 2 352 c.231C>T c.(229-231)GTC>GTT p.V77V AGXT_uc010zoi.1_Silent_p.V77V NM_000030 NP_000021 P21549 SPYA_HUMAN alanine-glyoxylate aminotransferase 77 glyoxylate metabolic process|protein targeting to peroxisome mitochondrial matrix|peroxisomal matrix alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity 0 all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15) Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) TCACACTGGTCATCTCTGGCT 0.607 TRPM2 7226 broad.mit.edu 37 21 45821664 45821664 + Missense_Mutation SNP G A A TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr21:45821664G>A uc002zet.1 + 17 2635 c.2422G>A c.(2422-2424)GCC>ACC p.A808T TRPM2_uc002zeu.1_Missense_Mutation_p.A808T|TRPM2_uc002zew.1_Missense_Mutation_p.A808T|TRPM2_uc010gpt.1_Missense_Mutation_p.A808T|TRPM2_uc002zex.1_Missense_Mutation_p.A594T|TRPM2_uc002zey.1_Missense_Mutation_p.A321T NM_003307 NP_003298 O94759 TRPM2_HUMAN transient receptor potential cation channel, 808 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 CTCCTACTTCGCCTTCCTCTG 0.632 CABIN1 23523 broad.mit.edu 37 22 24483514 24483514 + Missense_Mutation SNP G A A rs148592192 TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr22:24483514G>A uc002zzi.1 + 23 3500 c.3373G>A c.(3373-3375)GTC>ATC p.V1125I CABIN1_uc002zzj.1_Missense_Mutation_p.V1075I|CABIN1_uc002zzl.1_Missense_Mutation_p.V1125I NM_012295 NP_036427 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 1125 TPR 6. cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 TGCCACGCCCGTCTTGAACTG 0.577 CNTN6 27255 broad.mit.edu 37 3 1415706 1415706 + Frame_Shift_Del DEL G - - TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr3:1415706delG uc003boz.2 + 16 2311 c.2044delG c.(2044-2046)GGGfs p.G682fs CNTN6_uc011asj.1_Frame_Shift_Del_p.G610fs|CNTN6_uc003bpa.2_Frame_Shift_Del_p.G682fs NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN contactin 6 precursor 682 Fibronectin type-III 1. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane skin(3)|lung(2)|breast(2)|pancreas(1) 8 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) CAACAGCATTGGGATTGGAGA 0.393 SLC9A10 285335 broad.mit.edu 37 3 111918295 111918295 + Missense_Mutation SNP G A A TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr3:111918295G>A uc003dyu.2 - 20 2618 c.2396C>T c.(2395-2397)CCA>CTA p.P799L SLC9A10_uc011bhu.1_Missense_Mutation_p.P62L|SLC9A10_uc010hqc.2_Missense_Mutation_p.P751L NM_183061 NP_898884 Q4G0N8 S9A10_HUMAN sperm-specific sodium proton exchanger 799 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity ovary(3)|breast(2) 5 AGCAATTTCTGGGTGATCATA 0.279 LRRC31 79782 broad.mit.edu 37 3 169557943 169557943 + Nonsense_Mutation SNP G A A TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr3:169557943G>A uc003fgc.1 - 9 1563 c.1486C>T c.(1486-1488)CGA>TGA p.R496* LRRC31_uc010hwp.1_Nonsense_Mutation_p.R440* NM_024727 NP_079003 Q6UY01 LRC31_HUMAN leucine rich repeat containing 31 496 ovary(2)|skin(1) 3 all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943) CCACAATCTCGAAAATTTGAT 0.453 CPN2 1370 broad.mit.edu 37 3 194061799 194061799 + Missense_Mutation SNP G A A TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr3:194061799G>A uc003fts.2 - 2 1723 c.1633C>T c.(1633-1635)CCC>TCC p.P545S NM_001080513 NP_001073982 P22792 CPN2_HUMAN carboxypeptidase N, polypeptide 2 545 protein stabilization extracellular region enzyme regulator activity ovary(5) 5 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) TGCTACTAGGGCCCTGCTGCC 0.652 ZNF732 654254 broad.mit.edu 37 4 265913 265913 + Missense_Mutation SNP T G G TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr4:265913T>G uc011buu.1 - 3 744 c.730A>C c.(730-732)ACT>CCT p.T244P ZNF732_uc010ibb.1_Intron NM_001137608 NP_001131080 B4DXR9 ZN732_HUMAN zinc finger protein 732 245 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TTCTCTCCAGTATGAACTTTA 0.363 ZNF732 654254 broad.mit.edu 37 4 265995 265995 + Missense_Mutation SNP A T T TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr4:265995A>T uc011buu.1 - 3 662 c.648T>A c.(646-648)CAT>CAA p.H216Q ZNF732_uc010ibb.1_Intron NM_001137608 NP_001131080 B4DXR9 ZN732_HUMAN zinc finger protein 732 217 C2H2-type 3; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TCTCTCCAGTATGAATTATCT 0.348 UGT2B4 7363 broad.mit.edu 37 4 70351001 70351001 + Missense_Mutation SNP G A A TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr4:70351001G>A uc003hek.3 - 5 1282 c.1235C>T c.(1234-1236)GCT>GTT p.A412V UGT2B4_uc011cap.1_Missense_Mutation_p.A276V|UGT2B4_uc003hel.3_Intron NM_021139 NP_066962 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2B4 precursor 412 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(2) 2 CAAACTAACAGCTGCTCCCTT 0.423 SULT1B1 27284 broad.mit.edu 37 4 70620981 70620981 + Splice_Site SNP T C C TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr4:70620981T>C uc003hen.2 - 2 255 c.-43_splice c.e2-1 NM_014465 NP_055280 O43704 ST1B1_HUMAN sulfotransferase family, cytosolic, 1B, member 3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process cytosol 0 ACAGTTGTTCTGGAGAAATAT 0.328 C4orf32 132720 broad.mit.edu 37 4 113107978 113107978 + Nonsense_Mutation SNP C T T TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr4:113107978C>T uc003iah.2 + 2 467 c.283C>T c.(283-285)CGA>TGA p.R95* C4orf32_uc003iai.2_RNA NM_152400 NP_689613 Q8N8J7 CD032_HUMAN chromosome 4 open reading frame 32 95 integral to membrane 0 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.00198) TTTTGGAGAACGAATAGTGGA 0.413 CEP72 55722 broad.mit.edu 37 5 637858 637858 + Silent SNP C T T TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr5:637858C>T uc003jbf.2 + 7 1203 c.1131C>T c.(1129-1131)AAC>AAT p.N377N CEP72_uc011clz.1_RNA NM_018140 NP_060610 Q9P209 CEP72_HUMAN centrosomal protein 72 kDa 377 G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization centrosome|cytosol ovary(1) 1 Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863) AAAGCAGGAACGGGAGGACCT 0.622 CDH18 1016 broad.mit.edu 37 5 19721516 19721516 + Missense_Mutation SNP C T T TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr5:19721516C>T uc003jgc.2 - 4 960 c.583G>A c.(583-585)GCT>ACT p.A195T CDH18_uc003jgd.2_Missense_Mutation_p.A195T|CDH18_uc011cnm.1_Missense_Mutation_p.A195T NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 195 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.A195T(1) ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) ACCACCCGAGCGCTGTTTCCA 0.463 PCDHB16 57717 broad.mit.edu 37 5 140564331 140564331 + Missense_Mutation SNP C T T TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr5:140564331C>T uc003liv.2 + 1 3352 c.2197C>T c.(2197-2199)CCA>TCA p.P733S PCDHB9_uc003liw.1_5'Flank NM_020957 NP_066008 Q9NRJ7 PCDBG_HUMAN protocadherin beta 16 precursor 733 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGGCCCCTTTCCAGGGCGTCT 0.627 HIST1H1C 3006 broad.mit.edu 37 6 26056384 26056385 + Frame_Shift_Ins INS - C C TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr6:26056384_26056385insC uc003nfw.2 - 1 315_316 c.272_273insG c.(271-273)GGCfs p.G91fs NM_005319 NP_005310 P16403 H12_HUMAN histone cluster 1, H1c 91 H15. nucleosome assembly nucleosome|nucleus DNA binding ovary(3)|skin(2) 5 GCACCAGAGTGCCCTTGCTCAC 0.545 BAT1 7919 broad.mit.edu 37 6 31504459 31504459 + Missense_Mutation SNP A C C TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr6:31504459A>C uc003ntt.2 - 5 1065 c.434T>G c.(433-435)GTT>GGT p.V145G BAT1_uc003ntr.2_5'Flank|BAT1_uc003nts.2_Missense_Mutation_p.V145G|BAT1_uc011dnn.1_Missense_Mutation_p.V67G|BAT1_uc003ntu.2_Missense_Mutation_p.V145G|BAT1_uc003ntv.2_Missense_Mutation_p.V145G|BAT1_uc003ntw.2_Missense_Mutation_p.V145G|BAT1_uc003ntx.2_Missense_Mutation_p.V145G|BAT1_uc011dno.1_Missense_Mutation_p.V98G|BAT1_uc011dnp.1_Missense_Mutation_p.V67G|SNORD117_uc003nty.1_5'Flank|BAT1_uc011dnq.1_RNA NM_004640 NP_004631 Q13838 DX39B_HUMAN HLA-B associated transcript 1 145 Helicase ATP-binding. intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly nuclear speck|spliceosomal complex|transcription export complex ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding 0 AAAAACAGCAACCTGCCGAGC 0.498 GABRR2 2570 broad.mit.edu 37 6 89975454 89975454 + Missense_Mutation SNP G A A TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr6:89975454G>A uc003pnb.2 - 7 850 c.842C>T c.(841-843)ACG>ATG p.T281M GABRR2_uc011dzx.1_Missense_Mutation_p.T157M NM_002043 NP_002034 P28476 GBRR2_HUMAN gamma-aminobutyric acid (GABA) receptor, rho 2 281 Extracellular (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity 0 all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0158) GCGACGCAACGTGAAGTTAAT 0.517 ZBTB2 57621 broad.mit.edu 37 6 151687420 151687420 + Missense_Mutation SNP G A A TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr6:151687420G>A uc003qoh.2 - 3 916 c.781C>T c.(781-783)CGG>TGG p.R261W NM_020861 NP_065912 Q8N680 ZBTB2_HUMAN zinc finger and BTB domain containing 2 261 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.63e-11) GTGAAGCGCCGTCCACACAGG 0.557 EGFR 1956 broad.mit.edu 37 7 55220295 55220295 + Missense_Mutation SNP A T T TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr7:55220295A>T uc003tqk.2 + 6 931 c.685A>T c.(685-687)AGT>TGT p.S229C EGFR_uc003tqh.2_Missense_Mutation_p.S229C|EGFR_uc003tqi.2_Missense_Mutation_p.S229C|EGFR_uc003tqj.2_Missense_Mutation_p.S229C|EGFR_uc010kzg.1_Missense_Mutation_p.S184C|EGFR_uc011kco.1_Missense_Mutation_p.S176C|EGFR_uc003tql.1_RNA NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 229 Approximate.|Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.V30_R297>G(5) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CAAGTCCCCCAGTGACTGCTG 0.617 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) MUC17 140453 broad.mit.edu 37 7 100677499 100677499 + Silent SNP G A A TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr7:100677499G>A uc003uxp.1 + 3 2855 c.2802G>A c.(2800-2802)ACG>ACA p.T934T MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 934 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|13. 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) ACAGCACCACGCCGGTAGTCA 0.512 OR2F1 26211 broad.mit.edu 37 7 143657328 143657328 + Missense_Mutation SNP C A A TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr7:143657328C>A uc003wds.1 + 1 309 c.265C>A c.(265-267)CAT>AAT p.H89N NM_012369 NP_036501 Q13607 OR2F1_HUMAN olfactory receptor, family 2, subfamily F, 89 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 Melanoma(164;0.0903) TCTTGCAGAACATAAAGCCAT 0.512 EZH2 2146 broad.mit.edu 37 7 148512600 148512600 + Missense_Mutation SNP T C C TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr7:148512600T>C uc003wfd.1 - 13 1695 c.1529A>G c.(1528-1530)AAG>AGG p.K510R EZH2_uc011kug.1_Missense_Mutation_p.K501R|EZH2_uc003wfb.1_Missense_Mutation_p.K515R|EZH2_uc003wfc.1_Missense_Mutation_p.K471R|EZH2_uc011kuh.1_Missense_Mutation_p.K501R NM_004456 NP_004447 Q15910 EZH2_HUMAN enhancer of zeste 2 isoform a 510 negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|histone-lysine N-methyltransferase activity|protein binding haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1) 183 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00239) ATGCTAACCCTTTTTCAGCTG 0.368 Mis DLBCL NCOA2 10499 broad.mit.edu 37 8 71068332 71068338 + Frame_Shift_Del DEL ATCTTTA - - TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr8:71068332_71068338delATCTTTA uc003xyn.1 - 11 2424_2430 c.2262_2268delTAAAGAT c.(2260-2268)ACTAAAGATfs p.T754fs NM_006540 NP_006531 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 754_756 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4) lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1) 16 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) GTAAACCAATATCTTTAGTATCATCTT 0.411 T RUNXBP2 AML FAM75A6 389730 broad.mit.edu 37 9 43630642 43630642 + Silent SNP G A A rs2808959 TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr9:43630642G>A uc011lrb.1 - 1 89 c.60C>T c.(58-60)AGC>AGT p.S20S NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN hypothetical protein LOC389730 20 integral to membrane 0 ATGGTGTGGAGCTGGGGGCGT 0.473 COL5A1 1289 broad.mit.edu 37 9 137676834 137676834 + Splice_Site SNP G T T TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chr9:137676834G>T uc004cfe.2 + 30 2867 c.2485_splice c.e30-1 p.G829_splice NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CTGGCTTGCAGGGGGAGATCG 0.632 MAGEC1 9947 broad.mit.edu 37 X 140994696 140994696 + Silent SNP T A A TCGA-14-1395-01B-11D-1845-08 TCGA-14-1395-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 8825b7a5-dfac-4e21-b4ec-05161b1341e9 24b4b0b6-3f83-42d6-846b-e73b3baa0fc9 g.chrX:140994696T>A uc004fbt.2 + 4 1792 c.1506T>A c.(1504-1506)ACT>ACA p.T502T MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 502 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) CTGAGTGTACTCAAAGTACTT 0.498 HNSCC(15;0.026)