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 ATAD3C 219293 broad.mit.edu 37 1 1392509 1392509 + Silent SNP C T T TCGA-06-6698-01A-11D-1845-08 TCGA-06-6698-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx d605a279-c0ea-467c-a423-cdf21547f87e a2fc6ff0-c986-4828-9afa-b8917ed37851 g.chr1:1392509C>T uc001aft.2 + 8 1685 c.690C>T c.(688-690)GGC>GGT p.G230G NM_001039211 NP_001034300 Q5T2N8 ATD3C_HUMAN ATPase family, AAA domain containing 3C 230 ATP binding|nucleoside-triphosphatase activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) TCGTCCACAGCCTCCTGCTCT 0.642 KAZ 23254 broad.mit.edu 37 1 15441012 15441012 + Missense_Mutation SNP G A A TCGA-06-6698-01A-11D-1845-08 TCGA-06-6698-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx d605a279-c0ea-467c-a423-cdf21547f87e a2fc6ff0-c986-4828-9afa-b8917ed37851 g.chr1:15441012G>A uc001avm.3 + 15 2490 c.2209G>A c.(2209-2211)GAT>AAT p.D737N C1orf126_uc001avv.3_RNA|C1orf126_uc009voh.2_RNA|KAZ_uc001avs.3_Missense_Mutation_p.D184N NM_201628 NP_963922 Q674X7 KAZRN_HUMAN kazrin isoform E 737 keratinization cornified envelope|cytoplasm|desmosome|nucleus 0 CAAAGATCCCGATTTCCATGA 0.493 HP1BP3 50809 broad.mit.edu 37 1 21106349 21106349 + Missense_Mutation SNP G A A TCGA-06-6698-01A-11D-1845-08 TCGA-06-6698-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx d605a279-c0ea-467c-a423-cdf21547f87e a2fc6ff0-c986-4828-9afa-b8917ed37851 g.chr1:21106349G>A uc001bdw.1 - 3 292 c.152C>T c.(151-153)ACT>ATT p.T51I HP1BP3_uc001bdv.1_Missense_Mutation_p.T13I|HP1BP3_uc010odh.1_Missense_Mutation_p.T13I|HP1BP3_uc001bdy.1_Missense_Mutation_p.T51I|HP1BP3_uc001bdz.2_RNA|HP1BP3_uc001bea.2_Missense_Mutation_p.T50I|HP1BP3_uc001beb.2_Missense_Mutation_p.T51I NM_016287 NP_057371 Q5SSJ5 HP1B3_HUMAN HP1-BP74 51 nucleosome assembly nucleosome|nucleus DNA binding central_nervous_system(1)|skin(1) 2 all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201) TTTGGGAGGAGTTTCCCGGGT 0.403 PEX11B 8799 broad.mit.edu 37 1 145517332 145517332 + Missense_Mutation SNP C T T TCGA-06-6698-01A-11D-1845-08 TCGA-06-6698-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx d605a279-c0ea-467c-a423-cdf21547f87e a2fc6ff0-c986-4828-9afa-b8917ed37851 g.chr1:145517332C>T uc001eny.1 + 2 134 c.116C>T c.(115-117)CCT>CTT p.P39L NBPF10_uc001emp.3_Intron|GNRHR2_uc009wiv.1_5'Flank|GNRHR2_uc010oyt.1_5'Flank|GNRHR2_uc001enx.2_5'Flank|PEX11B_uc010oyu.1_Missense_Mutation_p.P25L NM_003846 NP_003837 O96011 PX11B_HUMAN peroxisomal biogenesis factor 11 beta 39 peroxisome fission|signal transduction integral to peroxisomal membrane protein binding 0 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GGAGCCAGTCCTGAGTTACAG 0.537 IQGAP3 128239 broad.mit.edu 37 1 156524129 156524129 + Missense_Mutation SNP A G G TCGA-06-6698-01A-11D-1845-08 TCGA-06-6698-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx d605a279-c0ea-467c-a423-cdf21547f87e a2fc6ff0-c986-4828-9afa-b8917ed37851 g.chr1:156524129A>G uc001fpf.2 - 13 1421 c.1346T>C c.(1345-1347)CTG>CCG p.L449P IQGAP3_uc009wsb.1_Missense_Mutation_p.L406P NM_178229 NP_839943 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 449 small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity ovary(5)|skin(1) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CCGGTTAATCAGGACCACAGC 0.622 C1orf125 126859 broad.mit.edu 37 1 179460808 179460808 + Missense_Mutation SNP C G G TCGA-06-6698-01A-11D-1845-08 TCGA-06-6698-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx d605a279-c0ea-467c-a423-cdf21547f87e a2fc6ff0-c986-4828-9afa-b8917ed37851 g.chr1:179460808C>G uc001gmo.2 + 19 2354 c.2227C>G c.(2227-2229)CGA>GGA p.R743G C1orf125_uc009wxg.2_RNA|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.R743G|C1orf125_uc009wxh.2_RNA NM_144696 NP_653297 Q5T1B0 AXDN1_HUMAN hypothetical protein LOC126859 isoform 1 743 0 AGGAGTTGCGCGATTGGAGCT 0.413 F13B 2165 broad.mit.edu 37 1 197021962 197021962 + Missense_Mutation SNP G A A TCGA-06-6698-01A-11D-1845-08 TCGA-06-6698-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx d605a279-c0ea-467c-a423-cdf21547f87e a2fc6ff0-c986-4828-9afa-b8917ed37851 g.chr1:197021962G>A uc001gtt.1 - 9 1401 c.1357C>T c.(1357-1359)CCA>TCA p.P453S NM_001994 NP_001985 P05160 F13B_HUMAN coagulation factor XIII B subunit precursor 453 Sushi 8. blood coagulation extracellular region upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 ACAGTACATGGTTCTGTAAAA 0.259 RBP3 5949 broad.mit.edu 37 10 48389610 48389610 + Missense_Mutation SNP T A A TCGA-06-6698-01A-11D-1845-08 TCGA-06-6698-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx d605a279-c0ea-467c-a423-cdf21547f87e a2fc6ff0-c986-4828-9afa-b8917ed37851 g.chr10:48389610T>A uc001jez.2 - 1 1382 c.1268A>T c.(1267-1269)CAA>CTA p.Q423L NM_002900 NP_002891 P10745 RET3_HUMAN retinol-binding protein 3 precursor 423 4 X approximate tandem repeats.|2. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity large_intestine(1)|central_nervous_system(1) 2 Vitamin A(DB00162) CACCAGTGCTTGCCGGATAGC 0.627 OR51F1 256892 broad.mit.edu 37 11 4790374 4790374 + Silent SNP C T T TCGA-06-6698-01A-11D-1845-08 TCGA-06-6698-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx d605a279-c0ea-467c-a423-cdf21547f87e a2fc6ff0-c986-4828-9afa-b8917ed37851 g.chr11:4790374C>T uc010qyl.1 - 1 774 c.774G>A c.(772-774)CTG>CTA p.L258L NM_001004752 NP_001004752 A6NLW9 A6NLW9_HUMAN olfactory receptor, family 51, subfamily F, 258 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) AGGACAGGCTCAGCATGTGGA 0.522 SLC22A25 387601 broad.mit.edu 37 11 62985164 62985164 + Missense_Mutation SNP C T T TCGA-06-6698-01A-11D-1845-08 TCGA-06-6698-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx d605a279-c0ea-467c-a423-cdf21547f87e a2fc6ff0-c986-4828-9afa-b8917ed37851 g.chr11:62985164C>T uc001nwr.1 - 3 550 c.550G>A c.(550-552)GCC>ACC p.A184T SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_RNA|SLC22A25_uc001nws.1_Intron|SLC22A25_uc001nwt.1_Missense_Mutation_p.A184T NM_199352 NP_955384 Q6T423 S22AP_HUMAN putative UST1-like organic anion transporter 184 Helical; Name=3; (Potential). transmembrane transport integral to membrane ovary(3)|skin(1) 4 CCTACAATGGCGAGCTGGAGG 0.488 NLRX1 79671 broad.mit.edu 37 11 119052983 119052983 + Silent SNP C T T TCGA-06-6698-01A-11D-1845-08 TCGA-06-6698-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx d605a279-c0ea-467c-a423-cdf21547f87e a2fc6ff0-c986-4828-9afa-b8917ed37851 g.chr11:119052983C>T uc001pvu.2 + 9 2750 c.2535C>T c.(2533-2535)AAC>AAT p.N845N NLRX1_uc001pvv.2_Silent_p.N845N|NLRX1_uc001pvw.2_Silent_p.N845N|NLRX1_uc001pvx.2_Silent_p.N845N NM_024618 NP_078894 Q86UT6 NLRX1_HUMAN NLR family member X1 isoform 1 845 LRR 6.|Required for the repression of MAVS- induced interferon signaling. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production mitochondrial outer membrane ATP binding ovary(1)|skin(1) 2 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) TGGCGTACAACGGTGCTGGTG 0.677 ARHGEF12 23365 broad.mit.edu 37 11 120352059 120352059 + Missense_Mutation SNP C T T TCGA-06-6698-01A-11D-1845-08 TCGA-06-6698-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx d605a279-c0ea-467c-a423-cdf21547f87e a2fc6ff0-c986-4828-9afa-b8917ed37851 g.chr11:120352059C>T uc001pxl.1 + 39 4335 c.4328C>T c.(4327-4329)ACA>ATA p.T1443I ARHGEF12_uc009zau.1_Missense_Mutation_p.T1340I NM_015313 NP_056128 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 1443 apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(2)|breast(2)|skin(2)|ovary(1) 7 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) CAGCCCATGACAGGCATCCCT 0.512 T MLL AML C1QL4 338761 broad.mit.edu 37 12 49726939 49726939 + Silent SNP G A A TCGA-06-6698-01A-11D-1845-08 TCGA-06-6698-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx d605a279-c0ea-467c-a423-cdf21547f87e a2fc6ff0-c986-4828-9afa-b8917ed37851 g.chr12:49726939G>A uc001rtz.1 - 2 1326 c.615C>T c.(613-615)GAC>GAT p.D205D NM_001008223 NP_001008224 Q86Z23 C1QL4_HUMAN complement component 1, q subcomponent-like 4 205 C1q. collagen 0 CGTCGCCCACGTCCAGGTGCA 0.597 NHLRC3 387921 broad.mit.edu 37 13 39613426 39613426 + Splice_Site SNP G A A TCGA-06-6698-01A-11D-1845-08 TCGA-06-6698-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx d605a279-c0ea-467c-a423-cdf21547f87e a2fc6ff0-c986-4828-9afa-b8917ed37851 g.chr13:39613426G>A uc001uxc.2 + 2 559 c.237_splice c.e2+1 p.Q79_splice C13orf23_uc001uwy.2_5'Flank|C13orf23_uc001uwz.2_5'Flank|NHLRC3_uc001uxa.1_Splice_Site_p.Q79_splice|NHLRC3_uc001uxb.1_Splice_Site_p.Q79_splice|NHLRC3_uc001uxd.2_Splice_Site_p.Q79_splice|NHLRC3_uc001uxe.2_Splice_Site NM_001012754 NP_001012772 Q5JS37 NHLC3_HUMAN NHL repeat containing 3 isoform a extracellular region skin(1) 1 Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114) all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128) CATAGGTCAAGTAAGTAAATA 0.388 RB1 5925 broad.mit.edu 37 13 48916734 48916734 + Splice_Site SNP G A A TCGA-06-6698-01A-11D-1845-08 TCGA-06-6698-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx d605a279-c0ea-467c-a423-cdf21547f87e a2fc6ff0-c986-4828-9afa-b8917ed37851 g.chr13:48916734G>A uc001vcb.2 + 3 431 c.265_splice c.e3-1 p.G89_splice RB1_uc010acs.1_Intron NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.?(2) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TTTGTTCCCAGGGAGGTTATA 0.318 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) RB1 5925 broad.mit.edu 37 13 48941638 48941641 + Frame_Shift_Del DEL TCTT - - TCGA-06-6698-01A-11D-1845-08 TCGA-06-6698-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx d605a279-c0ea-467c-a423-cdf21547f87e a2fc6ff0-c986-4828-9afa-b8917ed37851 g.chr13:48941638_48941641delTCTT uc001vcb.2 + 10 1114_1117 c.948_951delTCTT c.(946-951)AATCTTfs p.N316fs RB1_uc010act.1_Frame_Shift_Del_p.N17fs NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 316_317 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.?(6) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AGGTTGAAAATCTTTCTAAACGAT 0.299 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) MTA1 9112 broad.mit.edu 37 14 105936268 105936268 + Missense_Mutation SNP C T T TCGA-06-6698-01A-11D-1845-08 TCGA-06-6698-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx d605a279-c0ea-467c-a423-cdf21547f87e a2fc6ff0-c986-4828-9afa-b8917ed37851 g.chr14:105936268C>T uc001yqx.2 + 20 2123 c.1936C>T c.(1936-1938)CGG>TGG p.R646W MTA1_uc001yqy.2_RNA|MTA1_uc001yrb.2_Missense_Mutation_p.R411W NM_004689 NP_004680 Q13330 MTA1_HUMAN metastasis associated protein 646 signal transduction cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1) 2 all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026) Epithelial(152;0.19) AGTCAAGCGGCGGCGGATGAA 0.677 TSC2 7249 broad.mit.edu 37 16 2134716 2134716 + Missense_Mutation SNP G A A rs137854879 TCGA-06-6698-01A-11D-1845-08 TCGA-06-6698-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx d605a279-c0ea-467c-a423-cdf21547f87e a2fc6ff0-c986-4828-9afa-b8917ed37851 g.chr16:2134716G>A uc002con.2 + 34 4599 c.4493G>A c.(4492-4494)AGT>AAT p.S1498N TSC2_uc010bsd.2_Missense_Mutation_p.S1475N|TSC2_uc002coo.2_Missense_Mutation_p.S1431N|TSC2_uc010uvv.1_Missense_Mutation_p.S1395N|TSC2_uc010uvw.1_Missense_Mutation_p.S1383N|TSC2_uc002cop.2_Missense_Mutation_p.S1254N|TSC2_uc002coq.2_Missense_Mutation_p.S273N|TSC2_uc002cor.2_Missense_Mutation_p.S199N NM_000548 NP_000539 P49815 TSC2_HUMAN tuberous sclerosis 2 isoform 1 1498 S -> N (in TSC2). cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex GTPase activator activity|protein homodimerization activity central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1) 10 Hepatocellular(780;0.0202) ATCAACCCCAGGTGGGCCTCT 0.662 D|Mis|N|F|S hamartoma|renal cell Tuberous_Sclerosis GRIN2A 2903 broad.mit.edu 37 16 9862916 9862916 + Missense_Mutation SNP A T T TCGA-06-6698-01A-11D-1845-08 TCGA-06-6698-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx d605a279-c0ea-467c-a423-cdf21547f87e a2fc6ff0-c986-4828-9afa-b8917ed37851 g.chr16:9862916A>T uc002czo.3 - 12 2935 c.2387T>A c.(2386-2388)CTC>CAC p.L796H GRIN2A_uc010uym.1_Missense_Mutation_p.L796H|GRIN2A_uc010uyn.1_Missense_Mutation_p.L639H|GRIN2A_uc002czr.3_Missense_Mutation_p.L796H NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 796 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GATCCCAGTGAGCCACAGGGT 0.478 IL4R 3566 broad.mit.edu 37 16 27373977 27373977 + Missense_Mutation SNP C G G TCGA-06-6698-01A-11D-1845-08 TCGA-06-6698-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx d605a279-c0ea-467c-a423-cdf21547f87e a2fc6ff0-c986-4828-9afa-b8917ed37851 g.chr16:27373977C>G uc002don.2 + 11 1546 c.1304C>G c.(1303-1305)CCT>CGT p.P435R IL4R_uc002dop.3_Missense_Mutation_p.P420R|IL4R_uc010bxy.2_Missense_Mutation_p.P435R|IL4R_uc002doo.2_Missense_Mutation_p.P275R NM_000418 NP_000409 P24394 IL4RA_HUMAN interleukin 4 receptor alpha chain isoform a 435 Cytoplasmic (Potential). immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity ovary(1)|skin(1) 2 CTTCTTCCACCTTCGGGAAGT 0.612 CDH8 1006 broad.mit.edu 37 16 61689535 61689535 + Missense_Mutation SNP C A A TCGA-06-6698-01A-11D-1845-08 TCGA-06-6698-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx d605a279-c0ea-467c-a423-cdf21547f87e a2fc6ff0-c986-4828-9afa-b8917ed37851 g.chr16:61689535C>A uc002eog.1 - 11 1997 c.1745G>T c.(1744-1746)GGA>GTA p.G582V NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein 582 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|skin(2)|breast(1) 9 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) TGGAGGATTTCCACTATCACT 0.438 TP53 7157 broad.mit.edu 37 17 7578406 7578406 + Missense_Mutation SNP C T T rs28934578 TCGA-06-6698-01A-11D-1845-08 TCGA-06-6698-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx d605a279-c0ea-467c-a423-cdf21547f87e a2fc6ff0-c986-4828-9afa-b8917ed37851 g.chr17:7578406C>T uc002gim.2 - 5 718 c.524G>A c.(523-525)CGC>CAC p.R175H TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.2_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.1_Missense_Mutation_p.R136H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 175 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R175H(729)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R43H(5)|p.R82H(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GTGGGGGCAGCGCCTCACAAC 0.652 R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(HCC1395_BREAST)|R175H(KLE_ENDOMETRIUM)|R175H(NCIH196_LUNG)|R175H(AU565_BREAST)|R175H(TYKNU_OVARY)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(SKUT1_SOFT_TISSUE)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(LS123_LARGE_INTESTINE)|R175H(SKBR3_BREAST)|R175H(RKN_OVARY)|R175H(HUCCT1_BILIARY_TRACT) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) KCNJ12 3768 broad.mit.edu 37 17 21318689 21318689 + Missense_Mutation SNP T G G TCGA-06-6698-01A-11D-1845-08 TCGA-06-6698-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx d605a279-c0ea-467c-a423-cdf21547f87e a2fc6ff0-c986-4828-9afa-b8917ed37851 g.chr17:21318689T>G uc002gyv.1 + 3 740 c.35T>G c.(34-36)ATC>AGC p.I12S NM_021012 NP_066292 Q14500 IRK12_HUMAN potassium inwardly-rectifying channel, subfamily 12 Cytoplasmic (By similarity). blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission integral to membrane inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity ovary(3)|skin(1) 4 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) Dofetilide(DB00204) CCCTACAGCATCGTGTCATCG 0.711 Prostate(3;0.18) NF1 4763 broad.mit.edu 37 17 29661898 29661898 + Nonsense_Mutation SNP G A A TCGA-06-6698-01A-11D-1845-08 TCGA-06-6698-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx d605a279-c0ea-467c-a423-cdf21547f87e a2fc6ff0-c986-4828-9afa-b8917ed37851 g.chr17:29661898G>A uc002hgg.2 + 40 6188 c.5855G>A c.(5854-5856)TGG>TAG p.W1952* NF1_uc002hgh.2_Nonsense_Mutation_p.W1931*|NF1_uc010cso.2_Nonsense_Mutation_p.W140*|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 1952 W -> R (in NF1). actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) ATGACTCCATGGCTGTCAAAT 0.343 D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) KRTAP4-8 728224 broad.mit.edu 37 17 39253949 39253949 + Missense_Mutation SNP T A A TCGA-06-6698-01A-11D-1845-08 TCGA-06-6698-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx d605a279-c0ea-467c-a423-cdf21547f87e a2fc6ff0-c986-4828-9afa-b8917ed37851 g.chr17:39253949T>A uc010wfo.1 - 1 427 c.388A>T c.(388-390)AGC>TGC p.S130C NM_031960 NP_114166 Q9BYQ9 KRA48_HUMAN keratin associated protein 4.8 130 25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR]. keratin filament 0 ctggagatgctgcagctgggg 0.124 EFTUD2 9343 broad.mit.edu 37 17 42942379 42942379 + Missense_Mutation SNP G A A TCGA-06-6698-01A-11D-1845-08 TCGA-06-6698-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx d605a279-c0ea-467c-a423-cdf21547f87e a2fc6ff0-c986-4828-9afa-b8917ed37851 g.chr17:42942379G>A uc002ihn.2 - 14 1465 c.1204C>T c.(1204-1206)CAC>TAC p.H402Y EFTUD2_uc010wje.1_Missense_Mutation_p.H367Y|EFTUD2_uc010wjf.1_Missense_Mutation_p.H392Y NM_004247 NP_004238 Q15029 U5S1_HUMAN elongation factor Tu GTP binding domain 402 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding ovary(1) 1 Prostate(33;0.109) TTCGTCAGGTGGATGCCAAGC 0.557 OREG0024466 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) LPO 4025 broad.mit.edu 37 17 56344837 56344837 + Silent SNP C T T TCGA-06-6698-01A-11D-1845-08 TCGA-06-6698-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx d605a279-c0ea-467c-a423-cdf21547f87e a2fc6ff0-c986-4828-9afa-b8917ed37851 g.chr17:56344837C>T uc002ivt.2 + 12 2137 c.1821C>T c.(1819-1821)ATC>ATT p.I607I LPO_uc010wns.1_Silent_p.I548I|LPO_uc010dcp.2_Silent_p.I524I|LPO_uc010dcq.2_Silent_p.I278I|LPO_uc010dcr.2_Silent_p.I170I NM_006151 NP_006142 P22079 PERL_HUMAN lactoperoxidase isoform 1 preproprotein 607 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|breast(1) 2 CTGACAACATCGACATCTGGA 0.587 ALPK2 115701 broad.mit.edu 37 18 56203541 56203541 + Missense_Mutation SNP A G G TCGA-06-6698-01A-11D-1845-08 TCGA-06-6698-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx d605a279-c0ea-467c-a423-cdf21547f87e a2fc6ff0-c986-4828-9afa-b8917ed37851 g.chr18:56203541A>G uc002lhj.3 - 5 4092 c.3878T>C c.(3877-3879)ATA>ACA p.I1293T ALPK2_uc002lhk.1_Missense_Mutation_p.I624T NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN heart alpha-kinase 1293 ATP binding|protein serine/threonine kinase activity ovary(7)|skin(5)|lung(1)|central_nervous_system(1) 14 CAATGCTGCTATTTCAGAGGG 0.507 SERPINB7 8710 broad.mit.edu 37 18 61471670 61471670 + Missense_Mutation SNP G A A TCGA-06-6698-01A-11D-1845-08 TCGA-06-6698-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx d605a279-c0ea-467c-a423-cdf21547f87e a2fc6ff0-c986-4828-9afa-b8917ed37851 g.chr18:61471670G>A uc002ljl.2 + 8 1040 c.944G>A c.(943-945)CGT>CAT p.R315H SERPINB7_uc002ljm.2_Missense_Mutation_p.R315H|SERPINB7_uc010xet.1_Missense_Mutation_p.R298H|SERPINB7_uc010dqg.2_Missense_Mutation_p.R315H NM_001040147 NP_001035237 O75635 SPB7_HUMAN serine (or cysteine) proteinase inhibitor, clade 315 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity p.R315H(1) lung(2)|central_nervous_system(1) 3 Esophageal squamous(42;0.129) TCGGGGGGTCGTCTGTATATA 0.428 KCNG2 26251 broad.mit.edu 37 18 77624159 77624159 + Silent SNP C T T TCGA-06-6698-01A-11D-1845-08 TCGA-06-6698-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx d605a279-c0ea-467c-a423-cdf21547f87e a2fc6ff0-c986-4828-9afa-b8917ed37851 g.chr18:77624159C>T uc010xfl.1 + 1 492 c.492C>T c.(490-492)CGC>CGT p.R164R NM_012283 NP_036415 Q9UJ96 KCNG2_HUMAN potassium voltage-gated channel, subfamily G, 164 Cytoplasmic (Potential). energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion voltage-gated potassium channel complex delayed rectifier potassium channel activity 0 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244) ggcgccTGCGCGACGTGGTGG 0.368 CD209 30835 broad.mit.edu 37 19 7812212 7812212 + Missense_Mutation SNP C T T TCGA-06-6698-01A-11D-1845-08 TCGA-06-6698-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx d605a279-c0ea-467c-a423-cdf21547f87e a2fc6ff0-c986-4828-9afa-b8917ed37851 g.chr19:7812212C>T uc002mht.2 - 2 153 c.86G>A c.(85-87)CGA>CAA p.R29Q CD209_uc010xju.1_Missense_Mutation_p.R29Q|CD209_uc010dvp.2_Missense_Mutation_p.R29Q|CD209_uc002mhr.2_Missense_Mutation_p.R29Q|CD209_uc002mhs.2_Missense_Mutation_p.R29Q|CD209_uc002mhu.2_Missense_Mutation_p.R29Q|CD209_uc010dvq.2_Missense_Mutation_p.R29Q|CD209_uc002mhq.2_Missense_Mutation_p.R29Q|CD209_uc002mhv.2_Missense_Mutation_p.R29Q|CD209_uc002mhx.2_Intron|CD209_uc002mhw.2_Intron|CD209_uc010dvr.2_Missense_Mutation_p.R29Q NM_021155 NP_066978 Q9NNX6 CD209_HUMAN CD209 molecule isoform 1 29 Cytoplasmic (Probable). cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding skin(1) 1 CTTGTATCCTCGAGTCTGTCG 0.378 IGFL1 374918 broad.mit.edu 37 19 46733408 46733408 + Silent SNP C T T TCGA-06-6698-01A-11D-1845-08 TCGA-06-6698-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx d605a279-c0ea-467c-a423-cdf21547f87e a2fc6ff0-c986-4828-9afa-b8917ed37851 g.chr19:46733408C>T uc002pee.2 + 2 92 c.69C>T c.(67-69)CAC>CAT p.H23H NM_198541 NP_940943 Q6UW32 IGFL1_HUMAN IGF-like family member 1 precursor 23 extracellular space protein binding 0 Ovarian(192;0.0731)|all_neural(266;0.196) OV - Ovarian serous cystadenocarcinoma(262;0.00242)|all cancers(93;0.0132)|GBM - Glioblastoma multiforme(486;0.0294)|Epithelial(262;0.201) TCTGCTCACACGGAGCCCCAG 0.597 KLK6 5653 broad.mit.edu 37 19 51462532 51462532 + Missense_Mutation SNP C T T TCGA-06-6698-01A-11D-1845-08 TCGA-06-6698-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx d605a279-c0ea-467c-a423-cdf21547f87e a2fc6ff0-c986-4828-9afa-b8917ed37851 g.chr19:51462532C>T uc002pui.2 - 7 883 c.623G>A c.(622-624)CGA>CAA p.R208Q KLK6_uc010eoj.2_Missense_Mutation_p.E80K|KLK6_uc002puh.2_Missense_Mutation_p.R217Q|KLK6_uc002puj.2_Missense_Mutation_p.R101Q|KLK6_uc010ycn.1_Missense_Mutation_p.R101Q|KLK6_uc002pul.2_Missense_Mutation_p.R208Q|KLK6_uc002pum.2_Missense_Mutation_p.R101Q NM_001012964 NP_001012982 Q92876 KLK6_HUMAN kallikrein-related peptidase 6 isoform A 208 Peptidase S1. amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus protein binding|serine-type endopeptidase activity 0 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871) CACAAGGCCTCGGAGGTGGTC 0.393 SMARCAL1 50485 broad.mit.edu 37 2 217285033 217285033 + Nonsense_Mutation SNP C T T TCGA-06-6698-01A-11D-1845-08 TCGA-06-6698-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx d605a279-c0ea-467c-a423-cdf21547f87e a2fc6ff0-c986-4828-9afa-b8917ed37851 g.chr2:217285033C>T uc002vgc.3 + 5 1204 c.874C>T c.(874-876)CAG>TAG p.Q292* SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Nonsense_Mutation_p.Q292*|SMARCAL1_uc010fvg.2_Nonsense_Mutation_p.Q292* NM_014140 NP_054859 Q9NZC9 SMAL1_HUMAN SWI/SNF-related matrix-associated 292 HARP 1. chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter nucleus ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity ovary(3)|breast(3)|skin(1) 7 Renal(323;0.0458) Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111) GAAAGCAGCCCAGAGCCTCCC 0.557 Schimke_Immuno-Osseous_Dysplasia TSHZ2 128553 broad.mit.edu 37 20 51870294 51870294 + Silent SNP C T T TCGA-06-6698-01A-11D-1845-08 TCGA-06-6698-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx d605a279-c0ea-467c-a423-cdf21547f87e a2fc6ff0-c986-4828-9afa-b8917ed37851 g.chr20:51870294C>T uc002xwo.2 + 2 1253 c.297C>T c.(295-297)TGC>TGT p.C99C NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 99 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|haematopoietic_and_lymphoid_tissue(1) 6 STAD - Stomach adenocarcinoma(23;0.1) AGAGTGTCTGCGGCAGAGATG 0.512 RRP1B 23076 broad.mit.edu 37 21 45092195 45092195 + Missense_Mutation SNP C A A TCGA-06-6698-01A-11D-1845-08 TCGA-06-6698-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx d605a279-c0ea-467c-a423-cdf21547f87e a2fc6ff0-c986-4828-9afa-b8917ed37851 g.chr21:45092195C>A uc002zdk.2 + 3 334 c.220C>A c.(220-222)CTC>ATC p.L74I NM_015056 NP_055871 Q14684 RRP1B_HUMAN ribosomal RNA processing 1 homolog B 74 rRNA processing cytosol|nucleolus|preribosome, small subunit precursor protein binding skin(1) 1 STAD - Stomach adenocarcinoma(101;0.178) GCAGGAAGAGCTCGCCAACAC 0.552 PIK3CB 5291 broad.mit.edu 37 3 138374298 138374298 + Missense_Mutation SNP A C C TCGA-06-6698-01A-11D-1845-08 TCGA-06-6698-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx d605a279-c0ea-467c-a423-cdf21547f87e a2fc6ff0-c986-4828-9afa-b8917ed37851 g.chr3:138374298A>C uc011bmq.1 - 22 3146 c.3146T>G c.(3145-3147)CTC>CGC p.L1049R PIK3CB_uc011bmn.1_Missense_Mutation_p.L561R|PIK3CB_uc011bmo.1_Missense_Mutation_p.L500R|PIK3CB_uc011bmp.1_Missense_Mutation_p.L636R|PIK3CB_uc003est.1_RNA NM_006219 NP_006210 P42338 PK3CB_HUMAN catalytic phosphatidylinositol 3-kinase beta 1049 PI3K/PI4K. activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity breast(2)|ovary(1)|lung(1)|skin(1) 5 GCTTTCCCTGAGCGCCTCATC 0.418 RBM47 54502 broad.mit.edu 37 4 40440532 40440532 + Missense_Mutation SNP C T T TCGA-06-6698-01A-11D-1845-08 TCGA-06-6698-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx d605a279-c0ea-467c-a423-cdf21547f87e a2fc6ff0-c986-4828-9afa-b8917ed37851 g.chr4:40440532C>T uc003gvc.2 - 4 1089 c.379G>A c.(379-381)GCA>ACA p.A127T RBM47_uc003gvd.2_Missense_Mutation_p.A127T|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.A89T|RBM47_uc003gvg.1_Missense_Mutation_p.A127T NM_001098634 NP_001092104 A0AV96 RBM47_HUMAN RNA binding motif protein 47 isoform a 127 RRM 1. nucleus nucleotide binding|RNA binding breast(3) 3 TCACGCACTGCGCGCTTGGCC 0.642 FYB 2533 broad.mit.edu 37 5 39202820 39202820 + Silent SNP C T T TCGA-06-6698-01A-11D-1845-08 TCGA-06-6698-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx d605a279-c0ea-467c-a423-cdf21547f87e a2fc6ff0-c986-4828-9afa-b8917ed37851 g.chr5:39202820C>T uc003jls.2 - 1 310 c.243G>A c.(241-243)CCG>CCA p.P81P FYB_uc003jlt.2_Silent_p.P81P|FYB_uc003jlu.2_Silent_p.P81P|FYB_uc011cpl.1_Silent_p.P91P NM_199335 NP_955367 O15117 FYB_HUMAN FYN binding protein (FYB-120/130) isoform 2 81 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding ovary(2) 2 all_lung(31;0.000343) Epithelial(62;0.235) GCTTTAGAAACGGGGGCTTGG 0.552 NUDT12 83594 broad.mit.edu 37 5 102891710 102891710 + Missense_Mutation SNP C T T TCGA-06-6698-01A-11D-1845-08 TCGA-06-6698-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx d605a279-c0ea-467c-a423-cdf21547f87e a2fc6ff0-c986-4828-9afa-b8917ed37851 g.chr5:102891710C>T uc003koi.2 - 4 979 c.886G>A c.(886-888)GGT>AGT p.G296S NUDT12_uc011cvb.1_Missense_Mutation_p.G278S NM_031438 NP_113626 Q9BQG2 NUD12_HUMAN nudix-type motif 12 296 nucleus|peroxisome metal ion binding|NAD+ diphosphatase activity 0 all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423) Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221) TTATAGCCACCTTCTTCAATT 0.393 PCDHGA1 56114 broad.mit.edu 37 5 140711002 140711002 + Missense_Mutation SNP G A A TCGA-06-6698-01A-11D-1845-08 TCGA-06-6698-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx d605a279-c0ea-467c-a423-cdf21547f87e a2fc6ff0-c986-4828-9afa-b8917ed37851 g.chr5:140711002G>A uc003lji.1 + 1 751 c.751G>A c.(751-753)GTC>ATC p.V251I PCDHGA1_uc011dan.1_Missense_Mutation_p.V251I NM_018912 NP_061735 Q9Y5H4 PCDG1_HUMAN protocadherin gamma subfamily A, 1 isoform 1 251 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|breast(1)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCATATAAATGTCCCCGAAAA 0.493 RUFY1 80230 broad.mit.edu 37 5 179036447 179036447 + Missense_Mutation SNP A C C TCGA-06-6698-01A-11D-1845-08 TCGA-06-6698-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx d605a279-c0ea-467c-a423-cdf21547f87e a2fc6ff0-c986-4828-9afa-b8917ed37851 g.chr5:179036447A>C uc003mka.1 + 18 2054 c.2054A>C c.(2053-2055)TAC>TCC p.Y685S RUFY1_uc003mkb.1_Missense_Mutation_p.Y577S|RUFY1_uc003mkc.1_Missense_Mutation_p.Y577S|RUFY1_uc003mkd.1_Missense_Mutation_p.Y287S NM_025158 NP_079434 Q96T51 RUFY1_HUMAN RUN and FYVE domain-containing 1 isoform a 685 FYVE-type. endocytosis|protein transport early endosome membrane lipid binding|zinc ion binding ovary(4)|breast(1) 5 all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195) all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTGCCCTCCTACCCCAAGCCG 0.647 HNSCC(44;0.11) CARD11 84433 broad.mit.edu 37 7 2951813 2951813 + Missense_Mutation SNP G A A TCGA-06-6698-01A-11D-1845-08 TCGA-06-6698-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx d605a279-c0ea-467c-a423-cdf21547f87e a2fc6ff0-c986-4828-9afa-b8917ed37851 g.chr7:2951813G>A uc003smv.2 - 23 3541 c.3137C>T c.(3136-3138)GCC>GTC p.A1046V NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 1046 Guanylate kinase-like. positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1) 50 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) CACCTTGGCGGCCACAGCTTC 0.602 Mis DLBCL NXPH1 30010 broad.mit.edu 37 7 8791355 8791355 + Missense_Mutation SNP G A A TCGA-06-6698-01A-11D-1845-08 TCGA-06-6698-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx d605a279-c0ea-467c-a423-cdf21547f87e a2fc6ff0-c986-4828-9afa-b8917ed37851 g.chr7:8791355G>A uc003srv.2 + 3 1683 c.772G>A c.(772-774)GAC>AAC p.D258N NXPH1_uc011jxh.1_Missense_Mutation_p.D141N NM_152745 NP_689958 P58417 NXPH1_HUMAN neurexophilin 1 precursor 258 V (Cys-rich). extracellular region ovary(1)|central_nervous_system(1) 2 Ovarian(82;0.0628) UCEC - Uterine corpus endometrioid carcinoma (126;0.101) AGTGTGCCCTGACTACAACTA 0.443 ZNF713 349075 broad.mit.edu 37 7 56007178 56007178 + Missense_Mutation SNP T C C TCGA-06-6698-01A-11D-1845-08 TCGA-06-6698-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx d605a279-c0ea-467c-a423-cdf21547f87e a2fc6ff0-c986-4828-9afa-b8917ed37851 g.chr7:56007178T>C uc003trc.1 + 4 810 c.772T>C c.(772-774)TCA>CCA p.S258P ZNF713_uc003tra.1_Missense_Mutation_p.S271P|MRPS17_uc003trb.2_Intron NM_182633 NP_872439 Q8N859 ZN713_HUMAN zinc finger protein 713 258 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) CAGCCACACCTCATCTCTTAG 0.423 AHCYL2 23382 broad.mit.edu 37 7 129062691 129062691 + Missense_Mutation SNP G T T TCGA-06-6698-01A-11D-1845-08 TCGA-06-6698-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx d605a279-c0ea-467c-a423-cdf21547f87e a2fc6ff0-c986-4828-9afa-b8917ed37851 g.chr7:129062691G>T uc011kov.1 + 13 1526 c.1472G>T c.(1471-1473)CGG>CTG p.R491L AHCYL2_uc003vot.2_Missense_Mutation_p.R490L|AHCYL2_uc003vov.2_Missense_Mutation_p.R388L|AHCYL2_uc011kow.1_Missense_Mutation_p.R389L|AHCYL2_uc011kox.1_Missense_Mutation_p.R388L NM_015328 NP_056143 Q96HN2 SAHH3_HUMAN S-adenosylhomocysteine hydrolase-like 2 isoform 491 one-carbon metabolic process adenosylhomocysteinase activity ovary(2) 2 GCGAGTCTGCGGACACCAGAA 0.507 TP53INP1 94241 broad.mit.edu 37 8 95952365 95952365 + Missense_Mutation SNP A G G TCGA-06-6698-01A-11D-1845-08 TCGA-06-6698-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx d605a279-c0ea-467c-a423-cdf21547f87e a2fc6ff0-c986-4828-9afa-b8917ed37851 g.chr8:95952365A>G uc003yhg.2 - 3 580 c.196T>C c.(196-198)TTT>CTT p.F66L C8orf38_uc003yhe.1_Intron|C8orf38_uc003yhf.2_Intron|TP53INP1_uc003yhh.2_Missense_Mutation_p.F66L NM_033285 NP_150601 Q96A56 T53I1_HUMAN tumor protein p53 inducible nuclear protein 1 66 apoptosis PML body 0 Breast(36;8.75e-07) AAACAGGAAAAGACTGAAGGG 0.463 WDR67 93594 broad.mit.edu 37 8 124140520 124140521 + Splice_Site INS - T T TCGA-06-6698-01A-11D-1845-08 TCGA-06-6698-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx d605a279-c0ea-467c-a423-cdf21547f87e a2fc6ff0-c986-4828-9afa-b8917ed37851 g.chr8:124140520_124140521insT uc003ypp.1 + 14 1975 c.1885_splice c.e14-1 p.F629_splice WDR67_uc011lig.1_Splice_Site_p.F629_splice|WDR67_uc011lih.1_Splice_Site_p.F519_splice|WDR67_uc003ypq.1_Splice_Site|WDR67_uc003yps.1_Intron|WDR67_uc003ypt.1_Splice_Site_p.F86_splice|WDR67_uc003ypu.1_Splice_Site_p.F86_splice NM_145647 NP_663622 Q96DN5 WDR67_HUMAN WD repeat domain 67 isoform 1 centrosome Rab GTPase activator activity skin(1) 1 Lung NSC(37;7e-10)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) TTTTCTTACAGTTTTTTTTTCA 0.322 CYP11B1 1584 broad.mit.edu 37 8 143956491 143956491 + Missense_Mutation SNP C G G TCGA-06-6698-01A-11D-1845-08 TCGA-06-6698-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx d605a279-c0ea-467c-a423-cdf21547f87e a2fc6ff0-c986-4828-9afa-b8917ed37851 g.chr8:143956491C>G uc003yxi.2 - 8 1287 c.1280G>C c.(1279-1281)CGC>CCC p.R427P CYP11B1_uc010mex.2_Missense_Mutation_p.R126P|CYP11B1_uc003yxh.2_Intron|CYP11B1_uc003yxj.2_Intron|CYP11B1_uc010mey.2_Missense_Mutation_p.R498P NM_000497 NP_000488 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, 427 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity ovary(3) 3 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) GTCTAGCCAGCGCTGGGGGTT 0.647 Familial_Hyperaldosteronism_type_I C9orf64 84267 broad.mit.edu 37 9 86571236 86571236 + Silent SNP G A A TCGA-06-6698-01A-11D-1845-08 TCGA-06-6698-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx d605a279-c0ea-467c-a423-cdf21547f87e a2fc6ff0-c986-4828-9afa-b8917ed37851 g.chr9:86571236G>A uc004anb.2 - 1 428 c.180C>T c.(178-180)GCC>GCT p.A60A C9orf64_uc004anc.2_Intron NM_032307 NP_115683 Q5T6V5 CI064_HUMAN hypothetical protein LOC84267 60 0 CGGCCTCGTCGGCCGCCCTGG 0.647 SEC16A 9919 broad.mit.edu 37 9 139369673 139369673 + Missense_Mutation SNP C G G TCGA-06-6698-01A-11D-1845-08 TCGA-06-6698-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx d605a279-c0ea-467c-a423-cdf21547f87e a2fc6ff0-c986-4828-9afa-b8917ed37851 g.chr9:139369673C>G uc004chx.2 - 3 2704 c.2395G>C c.(2395-2397)GAG>CAG p.E799Q SEC16A_uc004chv.3_Missense_Mutation_p.E426Q|SEC16A_uc004chw.2_Missense_Mutation_p.E799Q|SEC16A_uc010nbn.2_Missense_Mutation_p.E799Q|SEC16A_uc010nbo.1_Missense_Mutation_p.E799Q NM_014866 NP_055681 O15027 SC16A_HUMAN SEC16 homolog A 621 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane 0 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) GCCTCCTCCTCTCCCATTTTG 0.572 TUBBP5 643224 broad.mit.edu 37 9 141071110 141071110 + Silent SNP A G G TCGA-06-6698-01A-11D-1845-08 TCGA-06-6698-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx d605a279-c0ea-467c-a423-cdf21547f87e a2fc6ff0-c986-4828-9afa-b8917ed37851 g.chr9:141071110A>G uc004com.2 + 4 774 c.513A>G c.(511-513)CCA>CCG p.P171P TUBBP5_uc010ncq.2_3'UTR RecName: Full=Putative tubulin beta-4q chain; 0 TGCGCTTCCCAGGCCAGCTGA 0.597 MAGT1 84061 broad.mit.edu 37 X 77109426 77109426 + Silent SNP T C C TCGA-06-6698-01A-11D-1845-08 TCGA-06-6698-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx d605a279-c0ea-467c-a423-cdf21547f87e a2fc6ff0-c986-4828-9afa-b8917ed37851 g.chrX:77109426T>C uc004fof.2 - 7 956 c.894A>G c.(892-894)GTA>GTG p.V298V MAGT1_uc004fog.3_Intron NM_032121 NP_115497 Q9H0U3 MAGT1_HUMAN magnesium transporter 1 266 protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex upper_aerodigestive_tract(1) 1 GTGTTTCAGCTACAAACTGGG 0.348 PASD1 139135 broad.mit.edu 37 X 150817142 150817144 + In_Frame_Del DEL GCT - - TCGA-06-6698-01A-11D-1845-08 TCGA-06-6698-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx d605a279-c0ea-467c-a423-cdf21547f87e a2fc6ff0-c986-4828-9afa-b8917ed37851 g.chrX:150817142_150817144delGCT uc004fev.3 + 9 1017_1019 c.685_687delGCT c.(685-687)GCTdel p.A236del NM_173493 NP_775764 Q8IV76 PASD1_HUMAN PAS domain containing 1 236 Poly-Ala. nucleus signal transducer activity ovary(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) CGTTGAACCCgctgctgctgctg 0.355