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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut CCNB3 85417 broad.mit.edu 37 X 50053615 50053615 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chrX:50053615C>T uc004dox.4 + 5 2744 c.2446C>T c.(2446-2448)Ctc>Ttc p.L816F CCNB3_uc004doy.3_Missense_Mutation_p.L816F|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Intron NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA. 816 cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity nucleus protein kinase binding p.V815I(1) breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) GGAAGCTGTCCTCAAGGAGCC 0.567000 7 19 0 0 0.014323 0 0 DIEXF 27042 broad.mit.edu 37 1 210016907 210016907 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:210016907C>T uc001hhr.2 + 10 1990 c.1893C>T c.(1891-1893)ttC>ttT p.F631F DIEXF_uc009xcu.2_Silent_p.F346F NM_014388 NP_055203 Q68CQ4 DIEXF_HUMAN Homo sapiens digestive organ expansion factor homolog (zebrafish) (DIEXF), mRNA. 631 multicellular organismal development nucleus p.F631L(1) breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2) 53 GAAATTACTTCAAGAAGGAGG 0.453000 48 13 0 0 0.016723 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47585753 47585753 + Missense_Mutation SNP G C C TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr20:47585753G>C uc002xtx.4 + 8 1281 c.1129G>C c.(1129-1131)Gtg>Ctg p.V377L NM_006420 NP_006411 Q9Y6D5 BIG2_HUMAN Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA. 377 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction Golgi membrane|cytosol ARF guanyl-nucleotide exchange factor activity p.L376F(1) breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) TGCCTTCCTTGTGTTCCGCTC 0.532000 56 32 0 0 0.009535 0 0 SPOCK2 9806 broad.mit.edu 37 10 73822644 73822644 + Silent SNP C T T rs115217058 byFrequency TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr10:73822644C>T uc001jso.2 - 10 1594 c.1149G>A c.(1147-1149)tcG>tcA p.S383S ANAPC16_uc021psn.1_Intron|SPOCK2_uc001jsp.3_Silent_p.S383S NM_001244950 NP_001231879 Q92563 TICN2_HUMAN Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2 (SPOCK2), transcript variant 3, mRNA. 383 extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly proteinaceous extracellular matrix calcium ion binding endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 CAAAGTCCCCCGAGAAGCCCA 0.667000 16 4 0 0 0.014758 0 0 IDO2 169355 broad.mit.edu 37 8 39873110 39873110 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr8:39873110C>T uc010lwy.1 + 10 1494 c.1252C>T c.(1252-1254)Cca>Tca p.P418S IDO2_uc003xno.1_Non-coding_Transcript|IDO2_uc010lwz.1_Missense_Mutation_p.P159S|IDO2_uc003xnp.1_Missense_Mutation_p.P159S NM_194294 NP_919270 Q6ZQW0 I23O2_HUMAN Homo sapiens indoleamine 2,3-dioxygenase 2 (IDO2), mRNA. 405 tryptophan catabolic process to kynurenine cytosol heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1) 18 AATCCTTCACCCACGTGGTTA 0.572000 38 19 0 0 0.007413 0 0 ADCY1 107 broad.mit.edu 37 7 45725676 45725676 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:45725676C>T uc003tne.4 + 12 2207 c.2189C>T c.(2188-2190)gCc>gTc p.A730V NM_021116 NP_066939 Q08828 ADCY1_HUMAN Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA. 730 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) ACACACCATGCCCTGCTCTGC 0.632000 53 15 0 0 0.020292 0 0 ZNF99 7652 broad.mit.edu 37 19 22941691 22941691 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:22941691G>A uc021urt.1 - 3 1175 c.1020C>T c.(1018-1020)ccC>ccT p.P340P NM_001080409 NP_001073878 Homo sapiens zinc finger protein 99 (ZNF99), mRNA. NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) CACATTTGTAGGGTTTCTTTC 0.368000 40 12 0 0 0.010729 0 0 KCNMA1 3778 broad.mit.edu 37 10 78651306 78651306 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr10:78651306C>T uc001jxn.3 - 25 3496 c.3319G>A c.(3319-3321)Gat>Aat p.D1107N KCNMA1_uc021ptu.1_Missense_Mutation_p.D999N|KCNMA1_uc001jxj.2_Missense_Mutation_p.D1053N|KCNMA1_uc001jxk.1_Missense_Mutation_p.D725N|KCNMA1_uc009xrt.1_Missense_Mutation_p.D898N|KCNMA1_uc001jxl.1_Missense_Mutation_p.D732N|KCNMA1_uc001jxo.3_Missense_Mutation_p.D1090N|KCNMA1_uc001jxm.3_Missense_Mutation_p.D1049N|KCNMA1_uc001jxq.3_Missense_Mutation_p.D1079N|BC030624_uc001jxp.3_Intron NM_001161352 NP_001154824 Q12791 KCMA1_HUMAN Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA. 1107 cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 68 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) AATGGCCCATCGAGCAGAGCT 0.572000 25 16 0 0 0.028581 0 0 COL21A1 81578 broad.mit.edu 37 6 55933851 55933851 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr6:55933851C>T uc003pcs.3 - 21 2316 c.2084G>A c.(2083-2085)gGa>gAa p.G695E COL21A1_uc010jzz.3_Missense_Mutation_p.G80E|COL21A1_uc011dxg.2_Missense_Mutation_p.G80E|COL21A1_uc011dxh.2_Missense_Mutation_p.G80E|COL21A1_uc003pcr.3_Missense_Mutation_p.E53K NM_030820 NP_110447 Q96P44 COLA1_HUMAN Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA. 695 Collagen-like 4. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) TACCTTTTTTCCTTGAATCCC 0.403000 20 4 0 0 0.014758 0 0 ACSL5 51703 broad.mit.edu 37 10 114136158 114136158 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr10:114136158G>A uc001kzu.3 + 0 203 c.91G>A c.(91-93)Gga>Aga p.G31R ACSL5_uc001kzs.3_Intron|ACSL5_uc001kzt.3_Intron NM_016234 NP_976314 Q9ULC5 ACSL5_HUMAN Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA. 0 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1) 21 Colorectal(252;0.117)|Breast(234;0.222) Epithelial(162;0.0343)|all cancers(201;0.137) CTCAGAGCCGGGAAGCCCCCA 0.602000 82 34 0 0 0.019004 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20585929 20585929 + Missense_Mutation SNP A T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr20:20585929A>T uc002wrz.3 - 14 2071 c.1928T>A c.(1927-1929)aTt>aAt p.I643N RALGAPA2_uc002wry.3_Missense_Mutation_p.I258N|RALGAPA2_uc010zsg.2_Missense_Mutation_p.I44N NM_020343 NP_065076 Q2PPJ7 RGPA2_HUMAN Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA. 643 activation of Ral GTPase activity cytosol|nucleus Ral GTPase activator activity|protein heterodimerization activity endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 GGAGTCCATAATGTTGGCCCA 0.448000 35 11 0 0 0.016723 0 0 C15orf2 23742 broad.mit.edu 37 15 24923207 24923207 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr15:24923207G>A uc001ywo.3 + 0 2667 c.2193G>A c.(2191-2193)ggG>ggA p.G731G NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 731 cell differentiation|multicellular organismal development|spermatogenesis NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8) 140 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) CTGGTTCTGGGAACACACAAC 0.537000 102 40 0 0 0.023175 0 0 ITGA2 3673 broad.mit.edu 37 5 52360772 52360772 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:52360772G>A uc003joy.3 + 13 1776 c.1633G>A c.(1633-1635)Ggc>Agc p.G545S ITGA2_uc011cqa.2_Non-coding_Transcript|ITGA2_uc011cqb.2_Non-coding_Transcript|ITGA2_uc011cqc.2_Missense_Mutation_p.G469S|ITGA2_uc011cqd.2_Non-coding_Transcript|ITGA2_uc011cqe.2_Non-coding_Transcript NM_002203 NP_002194 P17301 ITA2_HUMAN Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA. 545 axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 47 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) ATTTCTTGAAGGCCCCGAGGG 0.413000 63 52 0 0 0.014410 0 0 DMBT1 1755 broad.mit.edu 37 10 124395546 124395546 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr10:124395546C>T uc001lgk.1 + 49 6307 c.6201C>T c.(6199-6201)ttC>ttT p.F2067F DMBT1_uc001lgl.1_Silent_p.F2057F|DMBT1_uc001lgm.1_Silent_p.F1439F|DMBT1_uc021qaf.1_Silent_p.F2067F|DMBT1_uc021qag.1_Silent_p.F2057F|DMBT1_uc021qah.1_Silent_p.F1439F|DMBT1_uc009xzz.1_Silent_p.F2066F|DMBT1_uc010qtx.1_Silent_p.F787F|DMBT1_uc009yab.1_Silent_p.F770F|DMBT1_uc009yac.1_Silent_p.F361F NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA. 2067 CUB 2. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TTGAAGTTTTCGATGGCCCCT 0.502000 41 14 0 0 0.020292 0 0 DNAH17 8632 broad.mit.edu 37 17 76492083 76492083 + Missense_Mutation SNP T A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:76492083T>A uc010dhp.2 - 37 5902 c.5777A>T c.(5776-5778)aAg>aTg p.K1926M AK127460_uc002jvt.1_5'Flank NM_173628 NP_775899 Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA. p.F1925L(1) NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TGCTTTTTTCTTGGCCCGAAT 0.527000 44 19 0 0 0.008871 0 0 FOXP4 116113 broad.mit.edu 37 6 41555145 41555145 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr6:41555145C>T uc003oql.3 + 6 1225 c.767C>T c.(766-768)gCc>gTc p.A256V FOXP4_uc003oqm.3_Missense_Mutation_p.A254V|FOXP4_uc003oqn.3_Missense_Mutation_p.A255V NM_001012426 NP_001012426 Q8IVH2 FOXP4_HUMAN Homo sapiens forkhead box P4 (FOXP4), transcript variant 1, mRNA. 256 embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytoplasm|transcription factor complex DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 16 Ovarian(28;0.0327)|Colorectal(47;0.196) ACTGGCACGGCCGCCACCGCT 0.682000 OREG0004065 type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 93 33 0 0 0.015359 0 0 TRIM28 10155 broad.mit.edu 37 19 59059687 59059687 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:59059687C>T uc002qtg.1 + 7 1417 c.1128C>T c.(1126-1128)ctC>ctT p.L376L TRIM28_uc010eut.1_Silent_p.L294L|TRIM28_uc002qth.1_5'UTR NM_005762 NP_005753 Q13263 TIF1B_HUMAN Homo sapiens tripartite motif containing 28 (TRIM28), mRNA. 376 Leucine zipper alpha helical coiled-coil region.|RBCC domain. epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent nucleoplasm chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) ACCGGGCCCTCAAGATGATTG 0.542000 64 21 0 0 0.010504 0 0 NCAM2 4685 broad.mit.edu 37 21 22838993 22838993 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr21:22838993G>A uc002yld.2 + 12 1970 c.1721G>A c.(1720-1722)gGa>gAa p.G574E NCAM2_uc011acb.2_Missense_Mutation_p.G432E NM_004540 NP_004531 O15394 NCAM2_HUMAN Homo sapiens neural cell adhesion molecule 2 (NCAM2), mRNA. 574 Fibronectin type-III 1. neuron cell-cell adhesion integral to membrane|plasma membrane breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 108 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) GCTGTAAATGGAAAGGGACAA 0.318000 11 6 0 0 0.003080 0 0 SLC13A3 64849 broad.mit.edu 37 20 45239169 45239169 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr20:45239169G>A uc002xsf.2 - 2 497 c.457C>T c.(457-459)Ccc>Tcc p.P153S SLC13A3_uc010ghn.2_Missense_Mutation_p.P122S|SLC13A3_uc010zxx.2_Missense_Mutation_p.P55S|SLC13A3_uc010zxw.2_Missense_Mutation_p.P153S|SLC13A3_uc002xsg.2_Missense_Mutation_p.P106S|SLC13A3_uc010gho.2_Missense_Mutation_p.P106S|SLC13A3_uc002xsi.4_Missense_Mutation_p.P106S NM_022829 NP_073740 Q8WWT9 S13A3_HUMAN Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA. 153 integral to membrane|plasma membrane high affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Myeloproliferative disorder(115;0.0122) Succinic acid(DB00139) TTGGCAATGGGAAGCATCATG 0.547000 136 64 0 0 0.014410 0 0 JAKMIP1 152789 broad.mit.edu 37 4 6081910 6081910 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr4:6081910C>T uc010idb.1 - 6 1717 c.1231G>A c.(1231-1233)Gac>Aac p.D411N JAKMIP1_uc010idc.1_Missense_Mutation_p.D246N|JAKMIP1_uc010idd.1_Missense_Mutation_p.D411N|JAKMIP1_uc003giu.4_Missense_Mutation_p.D411N|JAKMIP1_uc011bwc.2_Missense_Mutation_p.D246N|JAKMIP1_uc003giv.4_Missense_Mutation_p.D411N|JAKMIP1_uc010ide.3_Missense_Mutation_p.D411N NM_001099433 NP_001092903 Q96N16 JKIP1_HUMAN Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA. 411 Mediates interaction with TYK2 and GABBR1. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 AGTGAGAGGTCGTCAATGACG 0.617000 9 9 0 0 0.006214 0 0 INSL5 10022 broad.mit.edu 37 1 67263797 67263797 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:67263797G>A uc001dcw.3 - 1 345 c.307C>T c.(307-309)Ctt>Ttt p.L103F NM_005478 NP_005469 Q9Y5Q6 INSL5_HUMAN Homo sapiens insulin-like 5 (INSL5), mRNA. 103 extracellular region hormone activity breast(2)|endometrium(1)|lung(5) 8 GACTTCCAAAGCTCTTCAGTG 0.458000 24 29 0 0 0.030593 0 0 APOB 338 broad.mit.edu 37 2 21229486 21229486 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr2:21229486C>T uc002red.3 - 25 10382 c.10254G>A c.(10252-10254)acG>acA p.T3418T NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 3418 Heparin-binding. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CCATATTTTTCGTGGTTAAGC 0.388000 492 224 0 0 0.014410 0 0 IP6K3 117283 broad.mit.edu 37 6 33694609 33694609 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr6:33694609C>T uc010jvf.2 - 4 1024 c.488G>A c.(487-489)gGa>gAa p.G163E IP6K3_uc003ofb.2_Missense_Mutation_p.G163E NM_001142883 NP_473452 Q96PC2 IP6K3_HUMAN Homo sapiens inositol hexakisphosphate kinase 3 (IP6K3), transcript variant 2, mRNA. 163 inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation cytoplasm ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity skin(1) 1 AACCTGGTTTCCGTTGGTGTC 0.637000 94 34 0 0 0.019004 0 0 AP1M1 8907 broad.mit.edu 37 19 16338374 16338374 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:16338374C>T uc002ndv.2 + 7 898 c.725C>T c.(724-726)tCc>tTc p.S242F AP1M1_uc002ndu.2_Missense_Mutation_p.S230F|AP1M1_uc010xpd.1_Missense_Mutation_p.S230F NM_001130524 NP_001123996 Q9BXS5 AP1M1_HUMAN Homo sapiens adaptor-related protein complex 1, mu 1 subunit (AP1M1), transcript variant 1, mRNA. 230 MHD. cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane protein binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2) 21 AAAAGCAAATCCGTGGAGCTG 0.602000 89 38 0 0 0.025465 0 0 TMC5 79838 broad.mit.edu 37 16 19451476 19451476 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr16:19451476C>T uc002dgc.4 + 2 865 c.116C>T c.(115-117)cCa>cTa p.P39L TMC5_uc010vaq.2_Missense_Mutation_p.P39L|TMC5_uc002dgb.4_Missense_Mutation_p.P39L|TMC5_uc010var.2_Missense_Mutation_p.P39L NM_001105248 NP_001098718 Q6UXY8 TMC5_HUMAN Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA. 39 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 CCAGATGTTCCAGGTCCTCTG 0.507000 70 30 0 0 0.009535 0 0 MAP3K10 4294 broad.mit.edu 37 19 40710533 40710533 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:40710533C>T uc002ona.3 + 2 1293 c.1005C>T c.(1003-1005)ctC>ctT p.L335L NM_002446 NP_002437 Q02779 M3K10_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 10 (MAP3K10), mRNA. 335 Protein kinase. activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway cytoplasm ATP binding|JUN kinase kinase kinase activity|bHLH transcription factor binding|protein homodimerization activity|transcription corepressor activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 24 TTGCCCGCCTCCTGGAGGGTG 0.647000 44 20 0 0 0.007413 0 0 NMD3 51068 broad.mit.edu 37 3 160967344 160967344 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:160967344G>A uc003feb.1 + 13 1425 c.1306G>A c.(1306-1308)Gaa>Aaa p.E436K NMD3_uc003fec.3_Missense_Mutation_p.E436K|NMD3_uc003fed.1_Missense_Mutation_p.E436K|NMD3_uc010hwh.3_Missense_Mutation_p.E256K NM_015938 NP_057022 Q96D46 NMD3_HUMAN Homo sapiens NMD3 homolog (S. cerevisiae) (NMD3), mRNA. 436 Necessary for the nuclear export of the 60S ribosomal subunit. protein transport cytoplasm|nucleolus|nucleoplasm cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2) 25 Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156) TACAGATGATGAAAGGTCTCG 0.343000 13 3 0 0 0.004672 0 0 KRTAP10-9 386676 broad.mit.edu 37 21 46047722 46047722 + Nonsense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr21:46047722C>T uc002zfp.4 + 0 683 c.634C>T c.(634-636)Cag>Tag p.Q212* TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron NM_198690 NP_941963 P60411 KR109_HUMAN Homo sapiens keratin associated protein 10-9 (KRTAP10-9), mRNA. 212 25 X 5 AA repeats of C-C-X(3). keratin filament endometrium(1)|kidney(1)|large_intestine(1)|lung(6) 9 GTGCTGCCAGCAGTCTGGCTG 0.637000 205 96 0 0 0.014410 0 0 HIST1H1T 3010 broad.mit.edu 37 6 26107905 26107905 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr6:26107905C>T uc003ngj.3 - 0 460 c.417G>A c.(415-417)agG>agA p.R139R NM_005323 NP_005314 P22492 H1T_HUMAN Homo sapiens histone cluster 1, H1t (HIST1H1T), mRNA. 139 cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis nucleosome DNA binding breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1) 9 ACTTGGAGTCCCTGGATAAAA 0.453000 74 23 0 0 0.014323 0 0 USH2A 7399 broad.mit.edu 37 1 216497652 216497652 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:216497652C>T uc001hku.1 - 6 1573 c.1186G>A c.(1186-1188)Gaa>Aaa p.E396K USH2A_uc001hkv.3_Missense_Mutation_p.E396K NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 396 Laminin N-terminal. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ATCCTTATTTCCGTTGGTTGT 0.313000 HNSCC(13;0.011) 17 6 0 0 0.029380 0 0 RYR1 6261 broad.mit.edu 37 19 38976703 38976703 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:38976703C>T uc002oit.3 + 33 5538 c.5408C>T c.(5407-5409)cCg>cTg p.P1803L RYR1_uc002oiu.3_Missense_Mutation_p.P1803L NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 1803 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CCTGCCATCCCGCTGGAGGCC 0.731000 40 16 0 0 0.033300 0 0 ZNF672 79894 broad.mit.edu 37 1 249142580 249142580 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:249142580C>T uc001iex.3 + 3 1802 c.1107C>T c.(1105-1107)tgC>tgT p.C369C ZNF672_uc021pme.1_Silent_p.C369C NM_024836 NP_079112 Q499Z4 ZN672_HUMAN Homo sapiens zinc finger protein 672 (ZNF672), mRNA. 369 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(1) 5 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) CACACAAATGCCCCGAGTGCA 0.637000 27 5 0 0 0.014758 0 0 LINGO4 339398 broad.mit.edu 37 1 151773710 151773710 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:151773710C>T uc001ezf.1 - 1 1661 c.1471G>A c.(1471-1473)Ggg>Agg p.G491R LINGO4_uc021oyu.1_Missense_Mutation_p.G491R NM_001004432 NP_001004432 Q6UY18 LIGO4_HUMAN Homo sapiens leucine rich repeat and Ig domain containing 4 (LINGO4), mRNA. 491 Ig-like C2-type. integral to membrane breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) GAGTCATTCCCAGCGACATTG 0.592000 165 66 0 0 0.014410 0 0 COL4A5 1287 broad.mit.edu 37 X 107865092 107865092 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chrX:107865092C>T uc022ccg.1 + 31 2939 c.2737C>T c.(2737-2739)Cct>Tct p.P913S COL4A5_uc004enz.1_Missense_Mutation_p.P913S|COL4A5_uc004eob.1_Missense_Mutation_p.P521S NM_033380 NP_203699 P29400 CO4A5_HUMAN Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA. 913 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 TTTGGGAATTCCTGGCAGGAG 0.423000 Alport syndrome with Diffuse Leiomyomatosis 15 18 0 0 0.012319 0 0 CCR4 1233 broad.mit.edu 37 3 32995307 32995307 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:32995307G>A uc003cfg.1 + 1 561 c.393G>A c.(391-393)atG>atA p.M131I CCR4_uc021wuw.1_Missense_Mutation_p.M131I NM_005508 NP_005499 P51679 CCR4_HUMAN Homo sapiens chemokine (C-C motif) receptor 4 (CCR4), mRNA. 131 chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response integral to plasma membrane NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1) 16 TCATGCTCATGAGCATTGATA 0.483000 199 69 0 0 0.014410 0 0 APBA1 320 broad.mit.edu 37 9 72067160 72067160 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr9:72067160G>A uc004ahh.2 - 8 2122 c.1846C>T c.(1846-1848)Ctc>Ttc p.L616F NM_001163 NP_001154 Q02410 APBA1_HUMAN Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA. 616 PID. axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3) 37 TTGGCCCTGAGGAATTCCTGG 0.527000 72 26 0 0 0.024334 0 0 DNA2 1763 broad.mit.edu 37 10 70227960 70227960 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr10:70227960G>A uc021pru.1 - 2 619 c.619C>T c.(619-621)Cca>Tca p.P207S DNA2_uc021prt.1_Missense_Mutation_p.P207S|DNA2_uc001jog.2_Missense_Mutation_p.P121S|DNA2_uc001joh.2_Non-coding_Transcript NM_001080449 NP_001073918 P51530 DNA2L_HUMAN Homo sapiens DNA replication helicase 2 homolog (yeast) (DNA2), mRNA. 121 DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|telomere maintenance via recombination|telomere maintenance via semi-conservative replication mitochondrial nucleoid|nucleoplasm 5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1) 20 AGCATGTCTGGATACAGAATC 0.388000 29 8 0 0 0.006214 0 0 ABI3BP 25890 broad.mit.edu 37 3 100527029 100527029 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:100527029G>A uc003dun.3 - 18 1733 c.1648C>T c.(1648-1650)Cca>Tca p.P550S ABI3BP_uc003duj.3_Missense_Mutation_p.P105S|ABI3BP_uc003duk.3_Missense_Mutation_p.P234S|ABI3BP_uc003dul.3_Missense_Mutation_p.P355S|ABI3BP_uc011bhd.2_Missense_Mutation_p.P504S|ABI3BP_uc003dum.3_5'UTR NM_015429 NP_056244 Q7Z7G0 TARSH_HUMAN Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA. 550 Pro-rich. extracellular space central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 50 GGGATTCTTGGGCGTGGTGAT 0.393000 21 10 0 0 0.010729 0 0 NHS 4810 broad.mit.edu 37 X 17746034 17746034 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chrX:17746034C>T uc011mix.2 + 6 4146 c.3808C>T c.(3808-3810)Ccc>Tcc p.P1270S NHS_uc004cxx.3_Missense_Mutation_p.P1249S|NHS_uc004cxy.3_Missense_Mutation_p.P1093S|NHS_uc004cxz.3_Missense_Mutation_p.P1072S|NHS_uc004cya.3_Missense_Mutation_p.P972S NM_001136024 NP_001129496 Q6T4R5 NHS_HUMAN Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA. 1249 nucleus breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 71 Hepatocellular(33;0.183) CTGTGCTTTTCCCACAGAAGG 0.448000 24 49 0 0 0.014410 0 0 MFSD4 148808 broad.mit.edu 37 1 205553164 205553164 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:205553164C>T uc001hcv.4 + 3 858 c.772C>T c.(772-774)Ctg>Ttg p.L258L MFSD4_uc010prk.2_Silent_p.L171L|MFSD4_uc010prl.2_Non-coding_Transcript|MFSD4_uc010prm.2_Silent_p.L203L NM_181644 NP_857595 Q8N468 MFSD4_HUMAN Homo sapiens major facilitator superfamily domain containing 4 (MFSD4), mRNA. 258 transmembrane transport integral to membrane central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) GCCCCTGCTTCTGTCTGCTGA 0.602000 48 26 0 0 0.021523 0 0 ATG2A 23130 broad.mit.edu 37 11 64673226 64673226 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:64673226G>A uc001obx.3 - 22 3474 c.3359C>T c.(3358-3360)tCt>tTt p.S1120F ATG2A_uc001obw.3_5'Flank NM_015104 NP_055919 Q2TAZ0 ATG2A_HUMAN Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA. 1120 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 ATAGTCCACAGAGCAGGAGAA 0.632000 34 24 0 0 0.021523 0 0 LEMD2 221496 broad.mit.edu 37 6 33744975 33744975 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr6:33744975G>A uc011drm.2 - 6 1211 c.1198C>T c.(1198-1200)Cgg>Tgg p.R400W LEMD2_uc010jvg.3_Missense_Mutation_p.R109W|LEMD2_uc011drl.2_Missense_Mutation_p.R98W NM_181336 NP_851853 Q8NC56 LEMD2_HUMAN Homo sapiens LEM domain containing 2 (LEMD2), transcript variant 1, mRNA. 400 integral to nuclear inner membrane central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1) 9 TTTCGCCACCGATATTTTAGG 0.488000 174 64 0 0 0.014410 0 0 PCDHB15 56121 broad.mit.edu 37 5 140626671 140626671 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:140626671G>A uc003lje.3 + 0 1525 c.1525G>A c.(1525-1527)Gac>Aac p.D509N NM_018935 NP_061758 Q9Y5E8 PCDBF_HUMAN Homo sapiens protocadherin beta 15 (PCDHB15), mRNA. 509 Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.T508M(2) NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CATTAACACGGACAACGGCCA 0.677000 71 24 0 0 0.016522 0 0 IDO2 169355 broad.mit.edu 37 8 39872789 39872789 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr8:39872789G>A uc010lwy.1 + 10 1173 c.931G>A c.(931-933)Gat>Aat p.D311N IDO2_uc003xno.1_Non-coding_Transcript|IDO2_uc010lwz.1_Missense_Mutation_p.D52N|IDO2_uc003xnp.1_Missense_Mutation_p.D52N NM_194294 NP_919270 Q6ZQW0 I23O2_HUMAN Homo sapiens indoleamine 2,3-dioxygenase 2 (IDO2), mRNA. 298 tryptophan catabolic process to kynurenine cytosol heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1) 18 CAGAATGAGGGATTACATGCC 0.458000 15 18 0 0 0.008871 0 0 SLCO3A1 28232 broad.mit.edu 37 15 92706125 92706125 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr15:92706125C>T uc002bqx.2 + 9 2094 c.1893C>T c.(1891-1893)atC>atT p.I631I SLCO3A1_uc002bqy.2_Silent_p.I631I|SLCO3A1_uc002bqz.1_Silent_p.I573I NM_013272 NP_037404 Q9UIG8 SO3A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA. 631 sodium-independent organic anion transport integral to membrane|plasma membrane sodium-independent organic anion transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 25 Lung NSC(78;0.0158)|all_lung(78;0.0255) BRCA - Breast invasive adenocarcinoma(143;0.0841) GCATCGCCATCGCGCTCAAAT 0.552000 58 20 0 0 0.014323 0 0 PXN 5829 broad.mit.edu 37 12 120652731 120652731 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr12:120652731C>T uc001txv.3 - 7 1359 c.1217G>A c.(1216-1218)gGa>gAa p.G406E PXN_uc001txu.3_Missense_Mutation_p.G204E|PXN_uc001txx.3_Missense_Mutation_p.G225E|PXN_uc001txt.3_Missense_Mutation_p.G392E|PXN_uc001txy.3_Missense_Mutation_p.G358E|PXN_uc001txz.3_Non-coding_Transcript NM_001243756 NP_001230685 P49023 PAXI_HUMAN Homo sapiens paxillin (PXN), transcript variant 3, mRNA. 392 LIM zinc-binding 1. cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly cytoplasm|focal adhesion|lamellipodium|microtubule associated complex beta-catenin binding|vinculin binding|zinc ion binding breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GTTCCGGGATCCGATCTCCTC 0.612000 66 23 0 0 0.014323 0 0 KEL 3792 broad.mit.edu 37 7 142640576 142640576 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:142640576G>A uc003wcb.3 - 14 1910 c.1700C>T c.(1699-1701)cCc>cTc p.P567L NM_000420 NP_000411 P23276 KELL_HUMAN Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA. 567 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) CCCATACCTGGGATAGCCAGG 0.532000 92 40 0 0 0.010771 0 0 BTNL8 79908 broad.mit.edu 37 5 180335629 180335629 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:180335629G>A uc003mmp.3 + 1 327 c.93G>A c.(91-93)ttG>ttA p.L31L BTNL8_uc003mmq.3_Silent_p.L31L|BTNL8_uc010jll.3_Silent_p.L31L|BTNL8_uc011dhg.2_Intron|BTNL8_uc010jlm.3_Intron|BTNL8_uc011dhh.2_5'Flank NM_001040462 NP_001153182 Q6UX41 BTNL8_HUMAN Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA. 31 Ig-like V-type 1. integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCCAGGCCTTGGTGGGGGAGG 0.547000 75 7 0 0 0.004482 0 0 KLF17 128209 broad.mit.edu 37 1 44595857 44595857 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:44595857G>A uc001clp.3 + 1 972 c.914G>A c.(913-915)cGc>cAc p.R305H KLF17_uc009vxf.1_Missense_Mutation_p.R268H NM_173484 NP_775755 Q5JT82 KLF17_HUMAN Homo sapiens Kruppel-like factor 17 (KLF17), mRNA. 305 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1) 18 Acute lymphoblastic leukemia(166;0.155) AGCCACCAGCGCAAGCACACA 0.557000 138 4 0 0 0.014758 0 0 PIAS3 10401 broad.mit.edu 37 1 145580316 145580316 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:145580316C>T uc001eoc.1 + 5 889 c.798C>T c.(796-798)ttC>ttT p.F266F PIAS3_uc010oyy.1_Silent_p.F257F|PIAS3_uc001eod.1_5'Flank NM_006099 NP_006090 Q9Y6X2 PIAS3_HUMAN Homo sapiens protein inhibitor of activated STAT, 3 (PIAS3), mRNA. 266 PINIT. positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2) 28 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CATCTGAGTTCGGACGGGTGA 0.567000 106 37 0 0 0.021022 0 0 CEACAM5 1048 broad.mit.edu 37 19 42219622 42219622 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:42219622G>A uc002orl.3 + 3 878 c.757G>A c.(757-759)Gaa>Aaa p.E253K CEACAM5_uc010ehz.1_3'UTR|CEACAM5_uc002orj.1_Missense_Mutation_p.E253K NM_004363 NP_004354 P06731 CEAM5_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA. 253 Ig-like 3. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) CAGATCAGGGGAAAATCTGAA 0.493000 48 20 0 0 0.007413 0 0 ADAMTS13 11093 broad.mit.edu 37 9 136287656 136287656 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr9:136287656C>T uc004cdv.4 + 0 537 c.93C>T c.(91-93)tcC>tcT p.S31S ADAMTS13_uc004cdp.4_Intron|ADAMTS13_uc004cdt.1_Silent_p.S31S|ADAMTS13_uc004cdu.1_Silent_p.S31S|ADAMTS13_uc004cdw.4_Silent_p.S31S|ADAMTS13_uc004cdx.4_Silent_p.S31S|ADAMTS13_uc004cdq.1_Silent_p.S31S|ADAMTS13_uc004cdr.1_Non-coding_Transcript|ADAMTS13_uc004cds.1_5'UTR NM_139025 NP_620594 Q76LX8 ATS13_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 13 (ADAMTS13), transcript variant 1, mRNA. 31 cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4) 36 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) GGGGACCCTCCCATTTCCAGC 0.632000 25 41 0 0 0.036044 0 0 CCBP2 1238 broad.mit.edu 37 3 42906333 42906333 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:42906333G>A uc003cme.3 + 2 517 c.339G>A c.(337-339)ggG>ggA p.G113G CCBP2_uc003cmf.3_Silent_p.G113G|CCBP2_uc003cmg.3_Intron|CCBP2_uc021wwm.1_Silent_p.G113G NM_001296 NP_001287 O00590 CCBP2_HUMAN Homo sapiens chemokine binding protein 2 (CCBP2), mRNA. 113 chemotaxis|immune response|multicellular organismal development integral to plasma membrane C-X-C chemokine receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(10)|skin(2)|urinary_tract(1) 26 KIRC - Kidney renal clear cell carcinoma(284;0.241) GGGTCTTCGGGAGTTTCTTGT 0.483000 126 46 0 0 0.014410 0 0 HECTD2 143279 broad.mit.edu 37 10 93256117 93256117 + Silent SNP T C C TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr10:93256117T>C uc010qnm.1 + 15 1780 c.1680T>C c.(1678-1680)tgT>tgC p.C560C LOC100188947_uc010qnl.2_Intron|HECTD2_uc001khl.2_Silent_p.C556C|HECTD2_uc001khm.2_Non-coding_Transcript|HECTD2_uc009xty.1_Silent_p.C145C|HECTD2_uc001khn.1_Silent_p.C206C NM_182765 NP_877497 Q5U5R9 HECD2_HUMAN Homo sapiens HECT domain containing 2 (HECTD2), transcript variant 1, mRNA. 556 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1) 27 ACGACTTATGTCAAATTATGC 0.378000 30 15 0 0 0.024245 0 0 ENPP1 5167 broad.mit.edu 37 6 132201098 132201098 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr6:132201098C>T uc011ecf.2 + 19 2044 c.2024C>T c.(2023-2025)tCc>tTc p.S675F NM_006208 NP_006199 P22413 ENPP1_HUMAN Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), mRNA. 675 Nuclease. 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 46 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) TGTCTTCTTTCCCAGCACCAG 0.413000 59 30 0 0 0.009535 0 0 TCRA 0 broad.mit.edu 37 14 22315338 22315338 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr14:22315338C>T uc001wbz.1 + 1 501 c.276C>T c.(274-276)tcC>tcT p.S92S TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Non-coding_Transcript|TCRA_uc010ait.1_Silent_p.S73S Homo sapiens mRNA for T cell receptor alpha variable 8, partial cds, clone: un 132. GTGAAACCTCCTTCCACCTGA 0.507000 54 43 0 0 0.010771 0 0 MPP7 143098 broad.mit.edu 37 10 28347518 28347518 + Missense_Mutation SNP C T T rs145704516 TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr10:28347518C>T uc001iua.1 - 16 1717 c.1313G>A c.(1312-1314)gGa>gAa p.G438E MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.G438E|MPP7_uc009xla.2_Missense_Mutation_p.G438E|MPP7_uc010qdv.1_Non-coding_Transcript NM_173496 NP_775767 Q5T2T1 MPP7_HUMAN Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA. 438 Guanylate kinase-like. establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 22 TTTATATTCTCCATATTCAAT 0.313000 86 33 0 0 0.012213 0 0 ITGAX 3687 broad.mit.edu 37 16 31384650 31384650 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr16:31384650G>A uc002ebt.3 + 19 2514 c.2447G>A c.(2446-2448)gGa>gAa p.G816E ITGAX_uc002ebu.1_Missense_Mutation_p.G816E NM_000887 NP_000878 P20702 ITAX_HUMAN Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA. 816 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity p.G816*(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 GACTCCTACGGAACCACCATC 0.612000 47 27 0 0 0.030593 0 0 ZIK1 284307 broad.mit.edu 37 19 58101701 58101701 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:58101701G>A uc002qpg.3 + 3 619 c.522G>A c.(520-522)aaG>aaA p.K174K ZIK1_uc002qph.3_Silent_p.K119K|ZIK1_uc002qpi.3_Silent_p.K161K|ZIK1_uc002qpj.3_Silent_p.K71K NM_001010879 NP_001010879 Q3SY52 ZIK1_HUMAN Homo sapiens zinc finger protein interacting with K protein 1 homolog (mouse) (ZIK1), mRNA. 174 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G173E(1) NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) AGGTTGGAAAGGACCTTCCAG 0.498000 60 20 0 0 0.008871 0 0 PSMC3 5702 broad.mit.edu 37 11 47446034 47446034 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:47446034G>A uc001nfh.2 - 4 593 c.399C>T c.(397-399)ttC>ttT p.F133F NM_002804 NP_002795 P17980 PRS6A_HUMAN Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 3 (PSMC3), mRNA. 133 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1) 17 Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13) TCACAGGAAGGAAGTACGTCT 0.567000 13 14 0 0 0.020292 0 0 OR10H4 126541 broad.mit.edu 37 19 16060411 16060411 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:16060411C>T uc010xov.2 + 0 594 c.594C>T c.(592-594)atC>atT p.I198I NM_001004465 NP_001004465 Q8NGA5 O10H4_HUMAN Homo sapiens olfactory receptor, family 10, subfamily H, member 4 (OR10H4), mRNA. 198 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 17 CATCTGTCATCATGGGTGTGA 0.463000 151 85 0 0 0.014410 0 0 STK11 6794 broad.mit.edu 37 19 1218459 1218459 + Nonsense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:1218459C>T uc002lrl.1 + 1 1449 c.334C>T c.(334-336)Cag>Tag p.Q112* NM_000455 NP_000446 Q15831 STK11_HUMAN Homo sapiens serine/threonine kinase 11 (STK11), mRNA. 112 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.E98_G155del(3)|p.?(3)|p.G52_P179del(1) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) AAATGTCATCCAGCTGGTGGA 0.562000 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 69 54 0 0 0.014410 0 0 NGLY1 55768 broad.mit.edu 37 3 25805745 25805745 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:25805745G>A uc003cdl.3 - 2 412 c.304C>T c.(304-306)Cgt>Tgt p.R102C NGLY1_uc010hfg.3_Missense_Mutation_p.R102C|NGLY1_uc003cdm.3_Missense_Mutation_p.R102C|NGLY1_uc011awo.2_Missense_Mutation_p.R60C|NGLY1_uc003cdk.3_Non-coding_Transcript NM_018297 NP_060767 Q96IV0 NGLY1_HUMAN Homo sapiens N-glycanase 1 (NGLY1), transcript variant 1, mRNA. 102 glycoprotein catabolic process cytoplasm metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding p.R102S(2)|p.R102C(2) breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1) 18 ATCAGGTCACGAATTTTTTGC 0.403000 128 34 0 0 0.017118 0 0 VPS8 23355 broad.mit.edu 37 3 184542424 184542424 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:184542424G>A uc021xik.1 + 0 92 c.4G>A c.(4-6)Gaa>Aaa p.E2K VPS8_uc003fpb.1_Missense_Mutation_p.E2K|VPS8_uc010hyd.1_Missense_Mutation_p.E2K|VPS8_uc003fpc.1_Missense_Mutation_p.E2K NM_001009921 NP_001009921 Q8N3P4 VPS8_HUMAN Homo sapiens vacuolar protein sorting 8 homolog (S. cerevisiae) (VPS8), transcript variant 1, mRNA. 2 zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22) AGTAAATATGGAAAATGAACC 0.373000 33 8 0 0 0.004482 0 0 RANBP3L 202151 broad.mit.edu 37 5 36265122 36265122 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:36265122C>T uc011cow.2 - 6 987 c.494G>A c.(493-495)aGa>aAa p.R165K RANBP3L_uc003jkh.3_Missense_Mutation_p.R140K NM_001161429 NP_001154901 Q86VV4 RNB3L_HUMAN Homo sapiens RAN binding protein 3-like (RANBP3L), transcript variant 1, mRNA. 140 intracellular transport endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1) 16 all_lung(31;4.52e-05) Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202) AAATGTTTTTCTTACTTTTGC 0.373000 50 25 0 0 0.027356 0 0 TET2 54790 broad.mit.edu 37 4 106158380 106158380 + Missense_Mutation SNP A T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr4:106158380A>T uc011cez.2 + 2 3749 c.3344A>T c.(3343-3345)aAa>aTa p.K1115I TET2_uc003hxk.3_Missense_Mutation_p.K1094I|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Missense_Mutation_p.K1094I|TET2_uc010ilp.2_Missense_Mutation_p.K1094I|TET2_uc021xql.1_Missense_Mutation_p.K1094I NM_001127208 NP_001120680 Q6N021 TET2_HUMAN Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA. 1094 cell cycle|myeloid cell differentiation metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.P1115fs*2(1)|p.P1115fs*15(1)|p.T1093fs*12(1)|p.T1114fs*16(1) NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 1314 Myeloproliferative disorder(5;0.0393) OV - Ovarian serous cystadenocarcinoma(123;7.18e-08) ACACCAACCAAAAGAACAGCT 0.388000 """Mis N, F""" MDS 23 20 0 0 0.008871 0 0 CELF1 10658 broad.mit.edu 37 11 47498455 47498455 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:47498455C>T uc001nfp.3 - 11 1432 c.1030G>A c.(1030-1032)Gga>Aga p.G344R CELF1_uc001nfl.3_Missense_Mutation_p.G316R|CELF1_uc010rhm.2_Missense_Mutation_p.G315R|CELF1_uc001nfm.3_Missense_Mutation_p.G313R|CELF1_uc001nfk.2_Missense_Mutation_p.G342R|CELF1_uc001nfn.3_Missense_Mutation_p.G312R|CELF1_uc001nfr.1_Missense_Mutation_p.G316R NM_001025596 NP_001020767 Q92879 CELF1_HUMAN Homo sapiens CUGBP, Elav-like family member 1 (CELF1), transcript variant 3, mRNA. 316 RNA interference|embryo development|mRNA splice site selection|regulation of RNA splicing cytoplasm|nucleus|ribonucleoprotein complex BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2) 18 TGCAGGGCTCCAAGTGAGGCT 0.502000 52 28 0 0 0.009535 0 0 WDR31 114987 broad.mit.edu 37 9 116085415 116085415 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr9:116085415G>A uc004bhe.3 - 5 650 c.345C>T c.(343-345)tcC>tcT p.S115S WDR31_uc004bhc.3_Silent_p.S114S|WDR31_uc004bhd.3_5'UTR|WDR31_uc004bhf.3_Non-coding_Transcript NM_001012361 NP_001012361 Q8NA23 WDR31_HUMAN Homo sapiens WD repeat domain 31 (WDR31), transcript variant 1, mRNA. 115 NS(1)|large_intestine(1)|lung(2)|prostate(2) 6 AGAACTGGCTGGATTTGGGAA 0.493000 53 21 0 0 0.016522 0 0 CHAT 1103 broad.mit.edu 37 10 50856580 50856581 + Missense_Mutation DNP GG AA AA TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr10:50856580_50856581GG>AA uc001jhz.2 + 8 1462_1463 c.1309_1310GG>AA c.(1309-1311)ggt>AAt p.G437N CHAT_uc001jhv.1_Missense_Mutation_p.G319N|CHAT_uc001jhx.1_Missense_Mutation_p.G319N|CHAT_uc001jhy.1_Missense_Mutation_p.G319N|CHAT_uc001jia.2_Missense_Mutation_p.G355N|CHAT_uc010qgs.1_Missense_Mutation_p.G319N NM_020549 NP_066266 P28329 CLAT_HUMAN Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA. 437 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity p.C436C(1) central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) CGGCACCTGCGGTGTGGTGTGC 0.604000 25 9 0 0 0.004672 0 0 ESRP2 80004 broad.mit.edu 37 16 68269602 68269602 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr16:68269602C>T uc010cfa.1 - 1 450 c.262G>A c.(262-264)Gag>Aag p.E88K ESRP2_uc002evp.1_5'Flank|ESRP2_uc002evq.1_Missense_Mutation_p.E88K NM_024939 NP_079215 Q9H6T0 ESRP2_HUMAN Homo sapiens epithelial splicing regulatory protein 2 (ESRP2), mRNA. 88 RNA splicing|mRNA processing|regulation of RNA splicing nucleus mRNA binding|nucleotide binding NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2) 16 CCGCTCGCCTCGCGGCACTGC 0.726000 19 5 0 0 0.014758 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140725347 140725347 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:140725347G>A uc003ljm.2 + 0 1747 c.1747G>A c.(1747-1749)Gag>Aag p.E583K PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.E583K NM_018916 NP_061739 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA. 584 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCGCTCCGCAGAGCCCGGCTA 0.682000 79 29 0 0 0.009535 0 0 MTSS1 9788 broad.mit.edu 37 8 125570059 125570059 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr8:125570059C>T uc003yrl.2 - 11 1639 c.1105G>A c.(1105-1107)Ggt>Agt p.G369S NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_5'Flank|MTSS1_uc011lin.1_Missense_Mutation_p.G139S|MTSS1_uc011lio.1_Missense_Mutation_p.G255S|MTSS1_uc003yri.2_Intron|MTSS1_uc003yrj.2_Intron|MTSS1_uc003yrk.2_Missense_Mutation_p.G365S NM_014751 NP_055566 O43312 MTSS1_HUMAN Homo sapiens metastasis suppressor 1 (MTSS1), mRNA. 365 actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway actin cytoskeleton|endocytic vesicle|ruffle SH3 domain binding|actin monomer binding|cytoskeletal adaptor activity|receptor binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 37 Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) AGGCCTGCACCCGTGGGCCCC 0.522000 22 3 0 0 0.014758 0 0 RAG2 5897 broad.mit.edu 37 11 36614751 36614751 + Missense_Mutation SNP C T T rs139419162 TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:36614751C>T uc021qge.1 - 0 968 c.968G>A c.(967-969)gGa>gAa p.G323E RAG2_uc021qgc.1_Missense_Mutation_p.G323E|RAG2_uc021qgd.1_Missense_Mutation_p.G323E|RAG2_uc001mwv.4_Missense_Mutation_p.G323E|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank|C11orf74_uc010rfd.2_5'Flank NM_001243786 NP_001230715 P55895 RAG2_HUMAN Homo sapiens recombination activating gene 2 (RAG2), transcript variant 4, mRNA. 323 T cell differentiation in thymus|V(D)J recombination|chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins nucleus DNA binding|chromatin binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding p.G323E(4) breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 32 all_lung(20;0.226) all_hematologic(20;0.00756) AGTTCCATTTCCCATGTTGCT 0.383000 Familial Hemophagocytic Lymphohistiocytosis 75 50 0 0 0.014410 0 0 PIAS2 9063 broad.mit.edu 37 18 44424036 44424036 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr18:44424036C>T uc002lck.3 - 7 1209 c.1022G>A c.(1021-1023)cGg>cAg p.R341Q PIAS2_uc010dnp.3_Missense_Mutation_p.R39Q|PIAS2_uc010xda.2_Missense_Mutation_p.R39Q|PIAS2_uc002lcl.3_Missense_Mutation_p.R341Q|PIAS2_uc002lcm.3_Missense_Mutation_p.R341Q|PIAS2_uc002lcn.1_Missense_Mutation_p.R345Q NM_004671 NP_004662 O75928 PIAS2_HUMAN Homo sapiens protein inhibitor of activated STAT, 2 (PIAS2), transcript variant beta, mRNA. 341 androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body|nuclear speck DNA binding|SUMO ligase activity|androgen receptor binding|protein binding|transcription coactivator activity|zinc ion binding p.R341L(3) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 22 CAAGGATACCCGAAGGCTAGT 0.303000 84 22 0 0 0.016522 0 0 TMEM131 23505 broad.mit.edu 37 2 98373814 98373814 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr2:98373814G>A uc002syh.4 - 40 5629 c.5400C>T c.(5398-5400)tcC>tcT p.S1800S TMEM131_uc002syg.3_Silent_p.S180S NM_015348 NP_056163 Q92545 TM131_HUMAN Homo sapiens transmembrane protein 131 (TMEM131), mRNA. 1800 Ser-rich. integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 ATGGAGTGGTGGACCACAGGC 0.597000 80 21 0 0 0.014323 0 0 ITGB4 3691 broad.mit.edu 37 17 73739906 73739906 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:73739906C>T uc002jpg.3 + 25 3262 c.3075C>T c.(3073-3075)tcC>tcT p.S1025S ITGB4_uc002jph.3_Silent_p.S1025S|ITGB4_uc002jpi.4_Silent_p.S1025S|ITGB4_uc002jpj.3_Silent_p.S1025S NM_000213 NP_000204 P16144 ITB4_HUMAN Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA. 1025 Calx-beta. cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) CCCAGGTCTCCTACCGCACAC 0.697000 11 5 0 0 0.014758 0 0 LRP1B 53353 broad.mit.edu 37 2 142567968 142567968 + Nonsense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr2:142567968G>A uc002tvj.1 - 1 1057 c.85C>T c.(85-87)Cag>Tag p.Q29* LRP1B_uc010fnl.1_Nonsense_Mutation_p.Q66* NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 29 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CACAACTGCTGATCTGAAAAT 0.423000 TSP Lung(27;0.18) 15 12 0 0 0.010729 0 0 TPO 7173 broad.mit.edu 37 2 1437227 1437227 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr2:1437227G>A uc002qwr.3 + 3 283 c.197G>A c.(196-198)gGa>gAa p.G66E TPO_uc010ewj.3_Intron|TPO_uc010yin.1_Missense_Mutation_p.G66E|TPO_uc002qww.3_Missense_Mutation_p.G66E|TPO_uc002qwx.3_Missense_Mutation_p.G66E|TPO_uc002qwu.3_Missense_Mutation_p.G66E|TPO_uc010yio.2_Missense_Mutation_p.G66E|TPO_uc010yip.2_Missense_Mutation_p.G66E NM_001206744 NP_001193673 P07202 PERT_HUMAN Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA. 66 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) AAGAAAAGAGGAATCCTTTCT 0.363000 28 14 0 0 0.028581 0 0 LOC100132247 0 broad.mit.edu 37 16 21858749 21858749 + Nonsense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr16:21858749C>T uc002djr.3 - 3 416 c.234G>A c.(232-234)tgG>tgA p.W78* LOC100132247_uc002djs.3_Non-coding_Transcript|LOC100132247_uc002djq.3_Nonsense_Mutation_p.W59*|LOC100132247_uc010vbn.1_Nonsense_Mutation_p.W78* NM_001135865 NP_001129337 Homo sapiens nuclear pore complex interacting protein related gene (LOC100132247), mRNA. GGTAAACTATCCAGAGGGTAA 0.358000 49 15 0 0 0.024245 0 0 HEATR1 55127 broad.mit.edu 37 1 236734652 236734652 + Splice_Site SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:236734652G>A uc001hyd.2 - 28 4100 c.3948_splice c.e28+1 p.P1316_splice HEATR1_uc009xgh.2_Splice_Site_p.P478_splice NM_018072 NP_060542 Q9H583 HEAT1_HUMAN Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA. 1316 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) AACGCTTACCGGAAATATTCC 0.403000 20 9 0 0 0.006214 0 0 RUNX1T1 862 broad.mit.edu 37 8 92998378 92998378 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr8:92998378G>A uc022axs.1 - 8 1617 c.1430C>T c.(1429-1431)cCc>cTc p.P477L RUNX1T1_uc003yfc.2_Missense_Mutation_p.P391L|RUNX1T1_uc010mam.3_Missense_Mutation_p.P391L|RUNX1T1_uc003yfe.2_Missense_Mutation_p.P381L|RUNX1T1_uc003yfd.3_Missense_Mutation_p.P418L|RUNX1T1_uc022axo.1_Missense_Mutation_p.P418L|RUNX1T1_uc010mao.3_Missense_Mutation_p.P391L|RUNX1T1_uc011lgi.2_Missense_Mutation_p.P429L|RUNX1T1_uc022axp.1_Missense_Mutation_p.P418L|RUNX1T1_uc022axq.1_Missense_Mutation_p.P418L|RUNX1T1_uc022axr.1_Missense_Mutation_p.P418L|RUNX1T1_uc022axt.1_Missense_Mutation_p.P418L|RUNX1T1_uc022axu.1_Missense_Mutation_p.P398L|RUNX1T1_uc022axv.1_Missense_Mutation_p.P418L|RUNX1T1_uc010man.2_5'UTR|RUNX1T1_uc003yfb.2_Missense_Mutation_p.P381L NM_001198679 NP_001185608 Q06455 MTG8_HUMAN Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA. 418 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) TGGGTTGACGGGACTCTGCTG 0.458000 177 49 0 0 0.014410 0 0 DDC 1644 broad.mit.edu 37 7 50611656 50611656 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:50611656G>A uc003tpg.4 - 1 329 c.128C>T c.(127-129)cCt>cTt p.P43L DDC_uc022ade.1_Missense_Mutation_p.P43L|DDC_uc003tpf.4_Missense_Mutation_p.P43L|DDC_uc022adb.1_Missense_Mutation_p.P43L|DDC_uc022adc.1_Missense_Mutation_p.P43L|DDC_uc022add.1_Missense_Mutation_p.P43L|DDC_uc022adf.1_Missense_Mutation_p.P43L NM_001082971 NP_001076440 P20711 DDC_HUMAN Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA. 43 cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1) 40 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) GGCAGCGGCAGGGATCAGCGG 0.562000 142 113 0 0 0.014410 0 0 PLCH1 23007 broad.mit.edu 37 3 155200622 155200622 + Missense_Mutation SNP T C C TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:155200622T>C uc021xge.1 - 22 3494 c.3217A>G c.(3217-3219)Aat>Gat p.N1073D PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.N1035D NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA. 1073 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TCCTGGCAATTGCTTGTGGCA 0.522000 148 45 0 0 0.013114 0 0 DYSF 8291 broad.mit.edu 37 2 71742867 71742867 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr2:71742867C>T uc010fen.3 + 7 1015 c.874C>T c.(874-876)Cca>Tca p.P292S DYSF_uc010fei.3_Missense_Mutation_p.P291S|DYSF_uc010feh.3_Missense_Mutation_p.P260S|DYSF_uc002sig.4_Missense_Mutation_p.P260S|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.P291S|DYSF_uc010fee.3_Missense_Mutation_p.P260S|DYSF_uc010fef.3_Missense_Mutation_p.P291S|DYSF_uc002sie.3_Missense_Mutation_p.P260S|DYSF_uc010feo.3_Missense_Mutation_p.P292S|DYSF_uc010fej.3_Missense_Mutation_p.P261S|DYSF_uc010fel.3_Missense_Mutation_p.P261S|DYSF_uc010fem.3_Missense_Mutation_p.P261S|DYSF_uc002sif.3_Missense_Mutation_p.P261S|DYSF_uc010fek.3_Missense_Mutation_p.P292S NM_001130987 NP_001124459 O75923 DYSF_HUMAN Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA. 260 C2 2. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 GGGAAACAGCCCACTCTTCAA 0.597000 64 24 0 0 0.014323 0 0 DNAJC12 56521 broad.mit.edu 37 10 69565494 69565494 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr10:69565494C>T uc001jnb.3 - 3 517 c.349G>A c.(349-351)Gac>Aac p.D117N U6_uc021prq.1_5'Flank NM_021800 NP_068572 Q9UKB3 DJC12_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 12 (DNAJC12), transcript variant 1, mRNA. 117 protein folding heat shock protein binding|unfolded protein binding p.S116C(1) breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1) 12 TGAGTCTTGTCAGATTCTTCC 0.368000 102 39 0 0 0.030466 0 0 LUZP2 338645 broad.mit.edu 37 11 24750779 24750779 + Missense_Mutation SNP C T T rs150458536 TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:24750779C>T uc001mqs.3 + 1 401 c.127C>T c.(127-129)Cgt>Tgt p.R43C LUZP2_uc009yif.3_5'UTR|LUZP2_uc009yig.3_Missense_Mutation_p.R43C NM_001009909 NP_001009909 Q86TE4 LUZP2_HUMAN Homo sapiens leucine zipper protein 2 (LUZP2), transcript variant 1, mRNA. 43 extracellular region p.R43C(4) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 32 CACCATTCTTCGTCAGCTGAC 0.433000 22 15 0 0 0.024245 0 0 TRPM2 7226 broad.mit.edu 37 21 45784067 45784067 + Nonsense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr21:45784067C>T uc010gpt.1 + 2 425 c.325C>T c.(325-327)Cag>Tag p.Q109* TRPM2_uc002zet.1_Nonsense_Mutation_p.Q109*|TRPM2_uc002zeu.1_Nonsense_Mutation_p.Q109*|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Nonsense_Mutation_p.Q109* NM_003307 NP_003298 O94759 TRPM2_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA. 109 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 CCACACCTTCCAGGGCACACA 0.572000 44 27 0 0 0.024334 0 0 TSPAN18 90139 broad.mit.edu 37 11 44931324 44931324 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:44931324C>T uc001myg.3 + 1 142 c.132C>T c.(130-132)atC>atT p.I44I TSPAN18_uc001mye.4_Silent_p.I44I|TP53I11_uc001myf.1_Intron NM_130783 NP_570139 Q96SJ8 TSN18_HUMAN Homo sapiens tetraspanin 18 (TSPAN18), mRNA. 44 integral to membrane endometrium(1)|large_intestine(6)|lung(3) 10 TCCGGGAGATCGTGGCTGCCA 0.692000 43 24 0 0 0.024334 0 0 SLC12A6 9990 broad.mit.edu 37 15 34527391 34527391 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr15:34527391C>T uc001zhw.3 - 23 3516 c.3352G>A c.(3352-3354)Gat>Aat p.D1118N SLC12A6_uc001zhv.3_Missense_Mutation_p.D1067N|SLC12A6_uc001zhz.3_Non-coding_Transcript|SLC12A6_uc001zhx.3_Missense_Mutation_p.D1103N|SLC12A6_uc001zhy.3_Non-coding_Transcript|SLC12A6_uc001zia.3_Missense_Mutation_p.D1059N|SLC12A6_uc001zib.3_Missense_Mutation_p.D1109N|SLC12A6_uc001zic.3_Missense_Mutation_p.D1118N|SLC12A6_uc010bau.3_Missense_Mutation_p.D1118N|SLC12A6_uc001zid.3_Missense_Mutation_p.D1059N|SLC12A6_uc001zht.3_Non-coding_Transcript|SLC12A6_uc001zhu.3_Missense_Mutation_p.D930N NM_133647 NP_598408 Q9UHW9 S12A6_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 6 (SLC12A6), transcript variant 1, mRNA. 1118 angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3) 45 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) CAGTTTTCATCACCCTCAGGG 0.428000 85 31 0 0 0.012213 0 0 ADAM22 53616 broad.mit.edu 37 7 87765295 87765295 + Splice_Site SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:87765295G>A uc003ujn.3 + 14 1384 c.1169_splice c.e14-1 p.G390_splice ADAM22_uc003ujk.2_Splice_Site_p.G390_splice|ADAM22_uc003ujl.2_Splice_Site_p.G390_splice|ADAM22_uc003ujm.3_Splice_Site_p.G390_splice|ADAM22_uc003ujo.3_Splice_Site_p.G390_splice|ADAM22_uc003ujp.1_Splice_Site_p.G442_splice NM_021723 NP_068369 Q9P0K1 ADA22_HUMAN Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA. 390 Peptidase M12B. cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3) 53 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) TTTCTCTTAGGTGAATGTAAA 0.368000 59 16 0 0 0.033300 0 0 TBX4 9496 broad.mit.edu 37 17 59557575 59557575 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:59557575G>A uc010ddo.3 + 7 1079 c.916G>A c.(916-918)Gag>Aag p.E306K TBX4_uc002izi.3_Missense_Mutation_p.E306K|TBX4_uc010woy.2_Missense_Mutation_p.E306K NM_018488 NP_060958 P57082 TBX4_HUMAN Homo sapiens T-box 4 (TBX4), mRNA. 306 leg morphogenesis|skeletal system morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 CTACCAGCACGAGAACGGGGC 0.637000 86 31 0 0 0.012213 0 0 DGKI 9162 broad.mit.edu 37 7 137282634 137282635 + Missense_Mutation DNP CT TA TA TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:137282634_137282635CT>TA uc003vtt.3 - 11 1270_1271 c.1269_1270AG>TA c.(1267-1272)aaagta>aaTAta p.423_424KV>NI DGKI_uc003vtu.3_Missense_Mutation_p.123_124KV>NI NM_004717 NP_004708 O75912 DGKI_HUMAN Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA. 423 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 AGATTTGGTACTTTCCTATACA 0.416000 37 8 0 0 0.004672 0 0 DCHS1 8642 broad.mit.edu 37 11 6654053 6654053 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:6654053G>A uc001mem.1 - 5 3091 c.2690C>T c.(2689-2691)cCt>cTt p.P897L NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA. 897 Cadherin 9. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CGTGTCTTCAGGTGCAGGAAA 0.582000 18 7 0 0 0.029380 0 0 MLL2 8085 broad.mit.edu 37 19 36223175 36223175 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:36223175C>T uc021usv.1 + 27 5725 c.5725C>T c.(5725-5727)Ccc>Tcc p.P1909S MLL2_uc021usu.1_Missense_Mutation_p.P723S NM_014727 NP_055542 O14686 MLL2_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA. 521 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5) 366 CTTCCCAGCTCCCCCCAGACG 0.652000 """N, F, Mis""" """medulloblastoma, renal""" HNSCC(34;0.089) 8 5 0 0 0.021553 0 0 C15orf2 23742 broad.mit.edu 37 15 24922173 24922173 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr15:24922173G>A uc001ywo.3 + 0 1633 c.1159G>A c.(1159-1161)Gag>Aag p.E387K NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 387 Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis p.E387D(2) NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8) 140 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) GGATAAAACAGAGACCATGAC 0.527000 35 8 0 0 0.003080 0 0 CAPN13 92291 broad.mit.edu 37 2 30973992 30973992 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr2:30973992G>A uc021vfn.1 - 9 1245 c.1213C>T c.(1213-1215)Cca>Tca p.P405S CAPN13_uc021vfm.1_Missense_Mutation_p.P405S|CAPN13_uc002rnp.1_Missense_Mutation_p.P405S NM_144575 NP_653176 Q6MZZ7 CAN13_HUMAN Homo sapiens calpain 13 (CAPN13), mRNA. 405 proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity p.P405S(2) NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 30 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) AAATCGAGTGGAAATTTTGCA 0.463000 25 6 0 0 0.021553 0 0 KCND3 3752 broad.mit.edu 37 1 112524279 112524279 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:112524279G>A uc001ebu.1 - 1 1550 c.1070C>T c.(1069-1071)tCg>tTg p.S357L KCND3_uc001ebv.1_Missense_Mutation_p.S357L NM_004980 NP_004971 Q9UK17 KCND3_HUMAN Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA. 357 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) GTACCAAAACGAGGCAGGGAT 0.537000 24 24 0 0 0.016522 0 0 MUC16 94025 broad.mit.edu 37 19 9085375 9085375 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:9085375G>A uc002mkp.3 - 0 6644 c.6440C>T c.(6439-6441)cCa>cTa p.P2147L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 2147 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.L2146V(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TATGGCCATTGGAAGAGGGAC 0.488000 53 35 0 0 0.015359 0 0 RHOU 58480 broad.mit.edu 37 1 228879439 228879439 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:228879439G>A uc001htf.3 + 2 1395 c.729G>A c.(727-729)atG>atA p.M243I RHOU_uc021pkj.1_Non-coding_Transcript NM_021205 NP_067028 Q7L0Q8 RHOU_HUMAN Homo sapiens ras homolog gene family, member U (RHOU), transcript variant 1, mRNA. 243 regulation of small GTPase mediated signal transduction Golgi membrane|cell projection|cytosol|focal adhesion|podosome GTP binding|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1) 13 Breast(184;0.162) Prostate(94;0.183) CAGATAAAATGAAAAACCTCT 0.443000 44 19 0 0 0.008871 0 0 ODZ2 57451 broad.mit.edu 37 5 167626002 167626002 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:167626002C>T uc010jjd.3 + 15 3018 c.3018C>T c.(3016-3018)tcC>tcT p.S1006S ODZ2_uc003lzr.4_Silent_p.S783S|ODZ2_uc003lzt.4_Silent_p.S379S|ODZ2_uc010jje.3_Silent_p.S277S NM_001122679 NP_001116151 Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA. NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2) 122 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) AGGAGAACTCCATCCCCAGCT 0.582000 15 9 0 0 0.006214 0 0 MUC16 94025 broad.mit.edu 37 19 9089206 9089206 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:9089206G>A uc002mkp.3 - 0 2813 c.2609C>T c.(2608-2610)tCg>tTg p.S870L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 870 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGATGGATTCGAAGTTTCCTC 0.483000 37 14 0 0 0.020292 0 0 PTX4 390667 broad.mit.edu 37 16 1537732 1537732 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr16:1537732G>A uc010uvf.2 - 1 366 c.366C>T c.(364-366)ctC>ctT p.L122L NM_001013658 NP_001013680 Q96A99 PTX4_HUMAN Homo sapiens pentraxin 4, long (PTX4), mRNA. 127 extracellular region metal ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 17 CGCCCAGGGTGAGGTCCAAGG 0.706000 60 21 0 0 0.010504 0 0 JAKMIP1 152789 broad.mit.edu 37 4 6087146 6087147 + Splice_Site DNP CC TT TT TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr4:6087146_6087147CC>TT uc010idb.1 - 4 1320 c.834_splice c.e4+1 p.Q278_splice JAKMIP1_uc010idc.1_Splice_Site_p.Q113_splice|JAKMIP1_uc010idd.1_Splice_Site_p.Q278_splice|JAKMIP1_uc003giu.4_Splice_Site_p.Q278_splice|JAKMIP1_uc011bwc.2_Splice_Site_p.Q113_splice|JAKMIP1_uc003giv.4_Splice_Site_p.Q278_splice|JAKMIP1_uc010ide.3_Splice_Site_p.Q278_splice NM_001099433 NP_001092903 Q96N16 JKIP1_HUMAN Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA. 278 Mediates association with microtubules. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CTGCCCCTCACCTGGACGCCCA 0.609000 9 8 0 0 0.004672 0 0 PARS2 25973 broad.mit.edu 37 1 55223653 55223653 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:55223653G>A uc021ont.1 - 0 1182 c.1182C>T c.(1180-1182)taC>taT p.Y394Y PARS2_uc001cxy.3_Silent_p.Y394Y NM_152268 NP_689481 Q7L3T8 SYPM_HUMAN Homo sapiens prolyl-tRNA synthetase 2, mitochondrial (putative) (PARS2), nuclear gene encoding mitochondrial protein, mRNA. 394 prolyl-tRNA aminoacylation mitochondrial matrix ATP binding|proline-tRNA ligase activity breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1) 15 L-Proline(DB00172) TGATGTGGTCGTACAGCTGCC 0.602000 111 4 0 0 0.009096 0 0 PADI2 11240 broad.mit.edu 37 1 17420166 17420166 + Nonsense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:17420166C>T uc001baf.3 - 4 507 c.425G>A c.(424-426)tGg>tAg p.W142* PADI2_uc010ocm.2_Intron|PADI2_uc001bag.1_Nonsense_Mutation_p.W142* NM_007365 NP_031391 Q9Y2J8 PADI2_HUMAN Homo sapiens peptidyl arginine deiminase, type II (PADI2), mRNA. 142 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) L-Citrulline(DB00155) CTCGGGGCCCCAGGTCCAGGA 0.592000 55 23 0 0 0.012319 0 0 FREM2 341640 broad.mit.edu 37 13 39264487 39264487 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr13:39264487G>A uc001uwv.3 + 0 3315 c.3006G>A c.(3004-3006)gaG>gaA p.E1002E NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA. 1002 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) TTCCAGCAGAGCAGTTTACTC 0.453000 57 46 0 0 0.014410 0 0 EPB41L1 2036 broad.mit.edu 37 20 34776268 34776268 + Splice_Site SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr20:34776268G>A uc002xfb.3 + 9 1045 c.874_splice c.e9-1 p.D292_splice EPB41L1_uc002xeu.3_Splice_Site_p.D230_splice|EPB41L1_uc010zvo.1_Splice_Site_p.D292_splice|EPB41L1_uc002xev.3_Splice_Site_p.D292_splice|EPB41L1_uc002xew.3_Splice_Site_p.D195_splice|EPB41L1_uc002xex.3_Splice_Site_p.D261_splice|EPB41L1_uc002xey.3_Splice_Site_p.D219_splice|EPB41L1_uc002xez.3_Splice_Site_p.D230_splice NM_012156 NP_036288 Q9H4G0 E41L1_HUMAN Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA. 292 FERM. cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 37 Breast(12;0.0239) TTCTCATGCAGGACTCTGAGG 0.592000 117 41 0 0 0.014410 0 0 TET3 200424 broad.mit.edu 37 2 74327599 74327599 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr2:74327599C>T uc002skb.4 + 8 3279 c.3279C>T c.(3277-3279)tcC>tcT p.S1093S NM_144993 NP_659430 O43151 TET3_HUMAN Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA. 1093 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 ACTTCAGCTCCTTCAAGTACA 0.597000 4 7 0 0 0.003080 0 0 VPS13D 55187 broad.mit.edu 37 1 12326959 12326959 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:12326959C>T uc001atv.3 + 13 1757 c.1616C>T c.(1615-1617)tCt>tTt p.S539F VPS13D_uc001atw.3_Missense_Mutation_p.S539F NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA. 539 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) CTAGCAGAGTCTCTTCCTCGA 0.358000 15 20 0 0 0.010504 0 0 NRG1 3084 broad.mit.edu 37 8 32617780 32617780 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr8:32617780C>T uc003xiv.2 + 10 1641 c.1124C>T c.(1123-1125)tCc>tTc p.S375F NRG1_uc022ats.1_Missense_Mutation_p.S325F|NRG1_uc011lbf.1_Missense_Mutation_p.S372F|NRG1_uc010lvo.2_Missense_Mutation_p.S372F|NRG1_uc003xiu.2_Missense_Mutation_p.S380F|NRG1_uc003xiw.2_Missense_Mutation_p.S372F|NRG1_uc003xit.2_Missense_Mutation_p.S375F|NRG1_uc010lvr.2_Missense_Mutation_p.S117F|NRG1_uc010lvs.2_Missense_Mutation_p.S117F|NRG1_uc010lvp.2_Missense_Mutation_p.S329F|NRG1_uc010lvq.2_Missense_Mutation_p.S305F|NRG1_uc011lbg.1_Missense_Mutation_p.S221F|NRG1_uc011lbh.1_Missense_Mutation_p.S218F|NRG1_uc003xja.2_Missense_Mutation_p.S186F NM_013964 NP_039258 Q02297 NRG1_HUMAN Homo sapiens neuregulin 1 (NRG1), transcript variant HRG-alpha, mRNA. 375 Notch signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane ErbB-3 class receptor binding|cytokine activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) GTGATGTCATCCGTAGAAAAC 0.527000 73 55 0 0 0.014410 0 0 ZNF786 136051 broad.mit.edu 37 7 148768588 148768588 + Missense_Mutation SNP A T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:148768588A>T uc003wfh.2 - 3 1413 c.1276T>A c.(1276-1278)Tcc>Acc p.S426T ZNF786_uc011kuk.1_Missense_Mutation_p.S389T|ZNF786_uc003wfi.2_Missense_Mutation_p.S340T NM_152411 NP_689624 Q8N393 ZN786_HUMAN Homo sapiens zinc finger protein 786 (ZNF786), mRNA. 426 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2) 26 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) TTCCTGCAGGAGAACGGTCTC 0.617000 43 8 0 0 0.004482 0 0 SIGLEC14 100049587 broad.mit.edu 37 19 52147156 52147156 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:52147156G>A uc002pxf.4 - 4 1008 c.888C>T c.(886-888)tcC>tcT p.S296S NM_001098612 NP_001092082 Q08ET2 SIG14_HUMAN Homo sapiens sialic acid binding Ig-like lectin 14 (SIGLEC14), mRNA. 296 Ig-like C2-type 2. cell adhesion integral to membrane|plasma membrane protein binding|sugar binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195) TTGAGGTCTGGGAAGGATTGA 0.617000 55 22 0 0 0.014323 0 0 NOS1AP 9722 broad.mit.edu 37 1 162325096 162325096 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:162325096G>A uc001gbv.2 + 6 1102 c.715G>A c.(715-717)Gat>Aat p.D239N NOS1AP_uc010pkr.1_Missense_Mutation_p.D234N|NOS1AP_uc001gbw.2_Missense_Mutation_p.D234N|NOS1AP_uc010pks.1_Non-coding_Transcript NM_014697 NP_055512 O75052 CAPON_HUMAN Homo sapiens nitric oxide synthase 1 (neuronal) adaptor protein (NOS1AP), transcript variant 1, mRNA. 239 regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity PDZ domain binding|nitric-oxide synthase binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) AGGTGTGACTGATCTAGATGC 0.577000 91 27 0 0 0.009535 0 0 GALK2 2585 broad.mit.edu 37 15 49611928 49611928 + Missense_Mutation SNP C G G TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr15:49611928C>G uc001zxj.1 + 8 1193 c.1095C>G c.(1093-1095)aaC>aaG p.N365K GALK2_uc001zxi.1_Missense_Mutation_p.N354K|GALK2_uc010ufb.1_Missense_Mutation_p.N341K|GALK2_uc001zxk.2_Non-coding_Transcript|GALK2_uc010ufc.1_Missense_Mutation_p.N341K NM_002044 NP_002035 Q01415 GALK2_HUMAN Homo sapiens galactokinase 2 (GALK2), transcript variant 1, mRNA. 365 galactose metabolic process cytoplasm ATP binding|N-acetylgalactosamine kinase activity|galactokinase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 all_lung(180;0.000325) all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05) AGTTGATGAACCAGAGCCACA 0.567000 40 7 0 0 0.003080 0 0 INPP5A 3632 broad.mit.edu 37 10 134595410 134595410 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr10:134595410C>T uc001llp.3 + 14 1452 c.1204C>T c.(1204-1206)Cat>Tat p.H402Y INPP5A_uc001llq.3_Missense_Mutation_p.H297Y NM_005539 NP_005530 Q14642 I5P1_HUMAN Homo sapiens inositol polyphosphate-5-phosphatase, 40kDa (INPP5A), mRNA. 402 cell communication membrane PH domain binding|inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326) AGGTAAACCTCATGCCCATGT 0.577000 63 25 0 0 0.024334 0 0 ENTPD7 57089 broad.mit.edu 37 10 101439504 101439504 + Silent SNP T C C TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr10:101439504T>C uc009xwl.3 + 5 781 c.426T>C c.(424-426)acT>acC p.T142T ENTPD7_uc001kqa.4_Silent_p.T140T NM_020354 NP_065087 Q9NQZ7 ENTP7_HUMAN Homo sapiens ectonucleoside triphosphate diphosphohydrolase 7 (ENTPD7), mRNA. 140 cytoplasmic vesicle membrane|integral to membrane hydrolase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1) 18 Colorectal(252;0.234) Epithelial(162;4.72e-10)|all cancers(201;3.75e-08) TGGCAGACACTCCAGAACATG 0.443000 79 28 0 0 0.010818 0 0 EPB41L1 2036 broad.mit.edu 37 20 34782228 34782228 + Silent SNP G C C TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr20:34782228G>C uc002xfb.3 + 11 1566 c.1395G>C c.(1393-1395)cgG>cgC p.R465R EPB41L1_uc002xeu.3_Silent_p.R403R|EPB41L1_uc010zvo.1_Silent_p.R465R|EPB41L1_uc002xev.3_Silent_p.R465R|EPB41L1_uc002xew.3_Silent_p.R368R|EPB41L1_uc002xex.3_Silent_p.R434R|EPB41L1_uc002xey.3_Silent_p.R392R|EPB41L1_uc002xez.3_Silent_p.R403R NM_012156 NP_036288 Q9H4G0 E41L1_HUMAN Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA. 465 cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 37 Breast(12;0.0239) GGGGGCAACGGTCAGAGGCTG 0.602000 31 7 0 0 0.004482 0 0 MLKL 197259 broad.mit.edu 37 16 74716619 74716619 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr16:74716619C>T uc002fdb.2 - 5 1327 c.886G>A c.(886-888)Gat>Aat p.D296N MLKL_uc002fdc.2_Intron NM_152649 NP_689862 Q8NB16 MLKL_HUMAN Homo sapiens mixed lineage kinase domain-like (MLKL), transcript variant 1, mRNA. 296 Protein kinase. ATP binding|protein binding|protein kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2) 19 TTTTCCCTATCCAACAGCTCC 0.572000 56 21 0 0 0.010504 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140741427 140741427 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:140741427C>T uc003ljs.2 + 0 1725 c.1725C>T c.(1723-1725)ttC>ttT p.F575F PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003lju.2_5'Flank|PCDHGC5_uc011dar.2_Silent_p.F575F|PCDHGC5_uc011das.2_5'Flank NM_018923 NP_061746 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA. 576 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGCCCTCTTCGATATGGTGC 0.657000 34 10 0 0 0.033300 0 0 KALRN 8997 broad.mit.edu 37 3 124196142 124196142 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:124196142C>T uc003ehg.3 + 26 4273 c.4146C>T c.(4144-4146)tcC>tcT p.S1382S KALRN_uc010hrv.1_Silent_p.S1373S|KALRN_uc003ehf.1_Silent_p.S1382S|KALRN_uc011bjy.1_Silent_p.S1373S|KALRN_uc003ehh.1_Silent_p.S728S NM_001024660 NP_001019831 O60229 KALRN_HUMAN Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA. 1382 DH 1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 AGCCTGATTCCAACCAGCTTA 0.403000 60 20 0 0 0.018920 0 0 ALDOB 229 broad.mit.edu 37 9 104189764 104189764 + Splice_Site SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr9:104189764C>T uc004bbk.2 - 5 622 c.540_splice c.e5+1 p.Q180_splice NM_000035 NP_000026 P05062 ALDOB_HUMAN Homo sapiens aldolase B, fructose-bisphosphate (ALDOB), mRNA. 180 NADH oxidation|fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly centriolar satellite|cytosol ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding p.Q180H(1) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1) 24 Acute lymphoblastic leukemia(62;0.0559) GGCAGAGCACCTGCTGACAGA 0.512000 36 16 0 0 0.024245 0 0 ATXN1 6310 broad.mit.edu 37 6 16327062 16327062 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr6:16327062C>T uc003nbt.3 - 7 2451 c.1480G>A c.(1480-1482)Gtc>Atc p.V494I ATXN1_uc010jpi.3_Missense_Mutation_p.V494I|ATXN1_uc010jpj.1_Intron NM_000332 NP_001121636 P54253 ATX1_HUMAN Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA. 494 Self-association. RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) GTGCTGCCGACCGGGATGAGC 0.662000 143 59 0 0 0.014410 0 0 MYH4 4622 broad.mit.edu 37 17 10366440 10366440 + Nonsense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:10366440G>A uc002gmn.3 - 9 982 c.871C>T c.(871-873)Caa>Taa p.Q291* AK097500_uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA. 291 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.Q291E(2) NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 GACAGGATTTGATAAAATATG 0.373000 19 15 0 0 0.007413 0 0 ZNF79 7633 broad.mit.edu 37 9 130206806 130206806 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr9:130206806C>T uc004bqw.4 + 4 1241 c.827C>T c.(826-828)cCc>cTc p.P276L ZNF79_uc011maf.2_Missense_Mutation_p.P252L|ZNF79_uc011mag.2_Missense_Mutation_p.P252L NM_007135 NP_009066 Q15937 ZNF79_HUMAN Homo sapiens zinc finger protein 79 (ZNF79), mRNA. 276 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2) 28 GGAGAGAAGCCCTACAGATGC 0.532000 72 28 0 0 0.037714 0 0 OR52A5 390054 broad.mit.edu 37 11 5153503 5153503 + Missense_Mutation SNP G A A rs143161168 TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:5153503G>A uc010qyx.2 - 0 370 c.370C>T c.(370-372)Cgc>Tgc p.R124C NM_001005160 NP_001005160 Q9H2C5 O52A5_HUMAN Homo sapiens olfactory receptor, family 52, subfamily A, member 5 (OR52A5), mRNA. 124 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3) 35 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) GCCACATAGCGATCCAGGGCC 0.468000 22 10 0 0 0.008291 0 0 BTN1A1 696 broad.mit.edu 37 6 26508969 26508969 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr6:26508969G>A uc003nif.4 + 6 1205 c.1148G>A c.(1147-1149)gGa>gAa p.G383E NM_001732 NP_001723 Q13410 BT1A1_HUMAN Homo sapiens butyrophilin, subfamily 1, member A1 (BTN1A1), mRNA. 383 B30.2/SPRY. extracellular region|integral to plasma membrane receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1) 26 ATGAAGAAAGGATTTGACCCC 0.552000 124 44 0 0 0.033182 0 0 SEMA4A 64218 broad.mit.edu 37 1 156146619 156146619 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:156146619C>T uc001fnl.3 + 14 2296 c.2117C>T c.(2116-2118)cCa>cTa p.P706L SEMA4A_uc009wrq.3_Missense_Mutation_p.P706L|SEMA4A_uc001fnm.3_Missense_Mutation_p.P706L|SEMA4A_uc001fnn.3_Missense_Mutation_p.P574L|SEMA4A_uc001fno.3_Missense_Mutation_p.P706L NM_001193301 NP_071762 Q9H3S1 SEM4A_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A (SEMA4A), transcript variant 3, mRNA. 706 axon guidance integral to membrane|plasma membrane receptor activity breast(1)|ovary(2)|skin(2) 5 Hepatocellular(266;0.158) GTGGCCTCCCCATTGAGAGCA 0.622000 51 24 0 0 0.018920 0 0 SEPT8 23176 broad.mit.edu 37 5 132101113 132101113 + Missense_Mutation SNP T G G TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:132101113T>G uc003kxr.2 - 1 377 c.139A>C c.(139-141)Atc>Ctc p.I47L SEPT8_uc003kxs.1_Missense_Mutation_p.I47L|SEPT8_uc003kxu.2_Missense_Mutation_p.I47L|SEPT8_uc011cxi.1_Missense_Mutation_p.I47L|SEPT8_uc003kxv.2_Missense_Mutation_p.I47L|SEPT8_uc003kxt.2_5'UTR NM_001098811 NP_001092281 Q92599 SEPT8_HUMAN Homo sapiens septin 8 (SEPT8), transcript variant 1, mRNA. 47 cell cycle septin complex GTP binding|protein binding SEPT8/AFF4(2) kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1) 11 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ACACAGAGGATGTTGAAGCTG 0.647000 77 40 0 0 0.030466 0 0 IMPG1 3617 broad.mit.edu 37 6 76712660 76712660 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr6:76712660C>T uc003pik.1 - 11 1396 c.1266G>A c.(1264-1266)gtG>gtA p.V422V NM_001563 NP_001554 Q17R60 IMPG1_HUMAN Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA. 422 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) CTGCTCCGTCCACTGTCTCAA 0.433000 52 19 0 0 0.008871 0 0 SHKBP1 92799 broad.mit.edu 37 19 41096183 41096183 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:41096183C>T uc002oob.3 + 15 1672 c.1623C>T c.(1621-1623)ccC>ccT p.P541P SHKBP1_uc002ooc.3_Silent_p.P516P|SHKBP1_uc010xvl.1_Silent_p.P464P|SHKBP1_uc002ooe.3_Silent_p.P378P|SHKBP1_uc010xvm.2_Silent_p.P321P|SHKBP1_uc010xvn.2_Silent_p.P419P|LTBP4_uc002oog.1_5'Flank NM_138392 NP_612401 Q8TBC3 SHKB1_HUMAN Homo sapiens SH3KBP1 binding protein 1 (SHKBP1), mRNA. 541 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1) 29 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) ACGGCTCACCCACGACAGCCT 0.701000 15 4 0 0 0.014758 0 0 MAGEA6 4105 broad.mit.edu 37 X 151869684 151869684 + Missense_Mutation SNP G A A rs140660790 byFrequency TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chrX:151869684G>A uc022chf.1 + 0 374 c.374G>A c.(373-375)cGa>cAa p.R125Q MAGEA6_uc004ffq.1_Missense_Mutation_p.R125Q|MAGEA6_uc004ffr.1_Missense_Mutation_p.R125Q NM_175868 NP_787064 P43360 MAGA6_HUMAN Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA. 125 MAGE. protein binding p.R125*(1) breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) CTCAAGTATCGAGCCAGGGAG 0.532000 36 46 0 0 0.014410 0 0 GJB4 127534 broad.mit.edu 37 1 35227278 35227278 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:35227278G>A uc001bxw.4 + 0 423 c.423G>A c.(421-423)gtG>gtA p.V141V GJB4_uc001bxv.1_Silent_p.V141V NM_153212 NP_694944 Q9NTQ9 CXB4_HUMAN Homo sapiens gap junction protein, beta 4, 30.3kDa (GJB4), mRNA. 141 cell communication connexon complex|integral to membrane gap junction channel activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) AGGCCGCCGTGGATGCTGGCT 0.607000 63 19 0 0 0.008871 0 0 LOC100128164 100128164 broad.mit.edu 37 3 169664560 169664560 + RNA SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:169664560G>A uc011bpp.2 - 1 c.3243C>T Homo sapiens four and a half LIM domains 1 pseudogene (LOC100128164), transcript variant 1, non-coding RNA. TATAGCTGGAGGGACCTCACT 0.512000 13 9 0 0 0.004482 0 0 OR2M1P 388762 broad.mit.edu 37 1 248285683 248285683 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:248285683C>T uc001idy.1 + 0 246 c.246C>T c.(244-246)atC>atT p.I82I Homo sapiens olfactory receptor, family 2, subfamily M, member 1 pseudogene (OR2M1P), non-coding RNA. TCTCCTGGATCCTGGGCTCTA 0.448000 110 55 0 0 0.014410 0 0 ATP10B 23120 broad.mit.edu 37 5 160113203 160113203 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:160113203G>A uc003lym.1 - 5 1200 c.353C>T c.(352-354)aCc>aTc p.T118I ATP10B_uc003lyp.2_Missense_Mutation_p.T118I|ATP10B_uc011deg.1_Missense_Mutation_p.T162I|ATP10B_uc003lyo.2_5'Flank NM_025153 NP_079429 O94823 AT10B_HUMAN Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA. 118 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGGTAACATGGTGATTTCTCT 0.473000 24 3 0 0 0.004672 0 0 DNAH9 1770 broad.mit.edu 37 17 11648297 11648297 + Missense_Mutation SNP C T T rs149674795 TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:11648297C>T uc002gne.3 + 30 6363 c.6295C>T c.(6295-6297)Ccc>Tcc p.P2099S DNAH9_uc010coo.3_Missense_Mutation_p.P1393S NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 2099 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.P2099S(2) NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GGACCTCTTTCCCGCCCTGGA 0.557000 38 8 0 0 0.003080 0 0 STON1-GTF2A1L 286749 broad.mit.edu 37 2 48809496 48809496 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr2:48809496C>T uc002rwp.2 + 1 1838 c.1724C>T c.(1723-1725)cCa>cTa p.P575L STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.P575L|STON1-GTF2A1L_uc002rwo.4_Missense_Mutation_p.P575L|STON1-GTF2A1L_uc010fbm.3_Missense_Mutation_p.P575L|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.P575L NM_172311 NP_758515 B7ZL16 B7ZL16_HUMAN Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA. 575 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4) 91 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TTTCCTGTCCCATCGCAGTGG 0.493000 99 36 0 0 0.017118 0 0 LRRC37A3 374819 broad.mit.edu 37 17 62856147 62856147 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:62856147G>A uc002jey.2 - 10 4733 c.4117C>T c.(4117-4119)Ctg>Ttg p.L1373L LRRC37A3_uc010wqg.1_Silent_p.L491L|LRRC37A3_uc002jex.1_Silent_p.L350L|LRRC37A3_uc010wqf.1_Silent_p.L411L|LRRC37A3_uc010dek.1_Silent_p.L379L|DQ578599_uc021ubv.1_5'Flank NM_199340 NP_955372 O60309 L37A3_HUMAN Homo sapiens leucine rich repeat containing 37, member A3 (LRRC37A3), mRNA. 1373 integral to membrane NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 GATACTTCCAGAAAAGGATTT 0.383000 56 29 0 0 0.027356 0 0 RNF139 11236 broad.mit.edu 37 8 125498977 125498977 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr8:125498977G>A uc003yrc.3 + 1 1430 c.1087G>A c.(1087-1089)Gtc>Atc p.V363I NM_007218 NP_009149 Q8WU17 RN139_HUMAN Homo sapiens ring finger protein 139 (RNF139), mRNA. 363 negative regulation of cell proliferation|regulation of protein ubiquitination endoplasmic reticulum membrane|integral to membrane protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1) 20 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) ATTAACTGCAGTCCTGCATTT 0.393000 228 67 0 0 0.014410 0 0 FBN3 84467 broad.mit.edu 37 19 8176006 8176006 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:8176006G>A uc002mjf.3 - 31 4163 c.4146C>T c.(4144-4146)ccC>ccT p.P1382P NM_032447 NP_115823 Q75N90 FBN3_HUMAN Homo sapiens fibrillin 3 (FBN3), mRNA. 1382 EGF-like 21; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 GGTACCCGCCGGGCGCATTGA 0.657000 38 18 0 0 0.033300 0 0 COQ9 57017 broad.mit.edu 37 16 57485015 57485015 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr16:57485015C>T uc002elq.3 + 1 218 c.137C>T c.(136-138)tCt>tTt p.S46F COQ9_uc002elp.2_Missense_Mutation_p.S46F|COQ9_uc010vhn.2_Missense_Mutation_p.S46F|COQ9_uc010vho.2_Missense_Mutation_p.S46F|COQ9_uc010vhp.2_Missense_Mutation_p.S46F NM_020312 NP_064708 O75208 COQ9_HUMAN Homo sapiens coenzyme Q9 homolog (S. cerevisiae) (COQ9), nuclear gene encoding mitochondrial protein, mRNA. 46 ubiquinone biosynthetic process mitochondrion breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1) 16 GGGCTAAGGTCTTCAGATGAG 0.542000 28 21 0 0 0.008871 0 0 KIAA1755 85449 broad.mit.edu 37 20 36874432 36874432 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr20:36874432G>A uc002xhy.1 - 1 372 c.100C>T c.(100-102)Cgt>Tgt p.R34C KIAA1755_uc002xhz.1_Missense_Mutation_p.R34C NM_001029864 NP_001025035 Q5JYT7 K1755_HUMAN Homo sapiens KIAA1755 (KIAA1755), mRNA. 34 breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1) 54 Myeloproliferative disorder(115;0.00874) TCCAGGAGACGGAACACCTGA 0.622000 33 22 0 0 0.012319 0 0 CD300LF 146722 broad.mit.edu 37 17 72700740 72700740 + Missense_Mutation SNP T C C TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:72700740T>C uc002jlg.3 - 1 362 c.259A>G c.(259-261)Aaa>Gaa p.K87E RAB37_uc002jlc.2_Intron|RAB37_uc002jld.2_Intron|RAB37_uc010dfu.3_Intron|CD300LF_uc002jlf.3_Missense_Mutation_p.K90E|CD300LF_uc010dfw.3_Non-coding_Transcript|CD300LF_uc002jlh.3_Missense_Mutation_p.K87E|CD300LF_uc002jli.3_Missense_Mutation_p.K90E|CD300LF_uc010wra.2_Missense_Mutation_p.K87E|CD300LF_uc002jlj.1_Missense_Mutation_p.K90E NM_139018 NP_620587 Q8TDQ1 CLM1_HUMAN Homo sapiens CD300 molecule-like family member f (CD300LF), mRNA. 87 Ig-like V-type. integral to membrane|plasma membrane receptor activity endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 GTGCGGTTTTTCTGATTGTCC 0.493000 179 82 0 0 0.014410 0 0 CILP2 148113 broad.mit.edu 37 19 19656266 19656266 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:19656266G>A uc002nmw.4 + 7 3015 c.2930G>A c.(2929-2931)gGa>gAa p.G977E CILP2_uc002nmv.4_Missense_Mutation_p.G971E NM_153221 NP_694953 Q8IUL8 CILP2_HUMAN Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA. 971 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 CAGCTCTACGGACTTCGGGAT 0.672000 21 16 0 0 0.028581 0 0 SLC17A7 57030 broad.mit.edu 37 19 49933840 49933840 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:49933840G>A uc002pnp.3 - 11 1791 c.1619C>T c.(1618-1620)tCc>tTc p.S540F SLC17A7_uc002pno.3_Missense_Mutation_p.S202F NM_020309 NP_064705 Q9P2U7 VGLU1_HUMAN Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7 (SLC17A7), mRNA. 540 Pro-rich. glutamate secretion|neurotransmitter secretion cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 26 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245) GGCCCCATAGGAGGGCGGGGG 0.652000 34 13 0 0 0.016723 0 0 UBR5 51366 broad.mit.edu 37 8 103338881 103338881 + Missense_Mutation SNP G C C TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr8:103338881G>C uc003ykr.2 - 12 1947 c.1492C>G c.(1492-1494)Cct>Gct p.P498A UBR5_uc003yks.2_Missense_Mutation_p.P498A NM_015902 NP_056986 O95071 UBR5_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA. 498 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TGACTAAAAGGAACTACACCC 0.328000 18 23 0 0 0.018920 0 0 NRXN3 9369 broad.mit.edu 37 14 80328179 80328179 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr14:80328179G>A uc001xun.3 + 16 3549 c.3058G>A c.(3058-3060)Gtg>Atg p.V1020M NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc001xup.2_Non-coding_Transcript|NRXN3_uc001xuq.2_Missense_Mutation_p.V596M|NRXN3_uc010asw.3_Missense_Mutation_p.V418M|NRXN3_uc001xur.4_Missense_Mutation_p.V391M NM_004796 NP_004787 Q9HDB5 NRX3B_HUMAN Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA. 596 angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) GTCCTATCAAGTGGACGAGAC 0.572000 24 11 0 0 0.013537 0 0 UBR5 51366 broad.mit.edu 37 8 103311078 103311078 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr8:103311078G>A uc003ykr.2 - 24 3779 c.3324C>T c.(3322-3324)gcC>gcT p.A1108A UBR5_uc003yks.2_Silent_p.A1108A NM_015902 NP_056986 O95071 UBR5_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA. 1108 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) CCTCTTACTTGGCAGAAAGAA 0.333000 30 10 0 0 0.010729 0 0 PRKDC 5591 broad.mit.edu 37 8 48869985 48869985 + Missense_Mutation SNP T A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr8:48869985T>A uc003xqi.3 - 1 218 c.161A>T c.(160-162)cAg>cTg p.Q54L PRKDC_uc003xqj.3_Missense_Mutation_p.Q54L|MCM4_uc003xqk.2_5'Flank|MCM4_uc003xql.2_5'Flank|MCM4_uc011ldi.2_5'Flank|MCM4_uc010lxw.2_5'Flank NM_006904 NP_008835 P78527 PRKDC_HUMAN Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA. 54 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) TAAAGATGTCTGTAATGCTGT 0.333000 Non-homologous end-joining 12 7 0 0 0.029380 0 0 DNAH5 1767 broad.mit.edu 37 5 13920681 13920681 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:13920681C>T uc003jfd.2 - 5 748 c.706G>A c.(706-708)Gaa>Aaa p.E236K DNAH5_uc003jfe.1_Non-coding_Transcript NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 236 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TCCGTAGGTTCCTTTAGGGTT 0.353000 Kartagener syndrome 40 21 0 0 0.008871 0 0 DSP 1832 broad.mit.edu 37 6 7578716 7578716 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr6:7578716G>A uc003mxp.1 + 21 3284 c.3005G>A c.(3004-3006)cGg>cAg p.R1002Q DSP_uc003mxq.1_Missense_Mutation_p.R1002Q|DSP_uc021yle.1_Missense_Mutation_p.R1002Q NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 1002 Globular 1. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GTTCATGCTCGGTACATTGAA 0.343000 52 32 0 0 0.013726 0 0 SI 6476 broad.mit.edu 37 3 164709234 164709234 + Missense_Mutation SNP T A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:164709234T>A uc003fei.3 - 43 5078 c.5015A>T c.(5014-5016)cAa>cTa p.Q1672L NM_001041 NP_001032 P14410 SUIS_HUMAN Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA. 1672 Sucrase. carbohydrate metabolic process|polysaccharide digestion Golgi apparatus|apical plasma membrane|brush border|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) ATTAAATGTTTGAAATTGTCC 0.418000 HNSCC(35;0.089) 35 11 0 0 0.010729 0 0 NAPRT1 93100 broad.mit.edu 37 8 144659263 144659263 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr8:144659263G>A uc003yyo.4 - 4 678 c.653C>T c.(652-654)tCc>tTc p.S218F NAPRT1_uc003yym.4_Missense_Mutation_p.S218F|NAPRT1_uc003yyn.4_Missense_Mutation_p.S218F|NAPRT1_uc011lkh.2_Missense_Mutation_p.S218F Q6XQN6 PNCB_HUMAN Homo sapiens nicotinate phosphoribosyltransferase domain containing 1 (NAPRT1), mRNA. 218 nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process Golgi apparatus|cytosol|nucleus nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 6 all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146) GCCTGAAAAGGAAGTGACGAA 0.677000 37 26 0 0 0.027356 0 0 AMFR 267 broad.mit.edu 37 16 56397837 56397837 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr16:56397837G>A uc002eiy.3 - 12 1985 c.1780C>T c.(1780-1782)Cgc>Tgc p.R594C AMFR_uc002eix.3_Missense_Mutation_p.R228C NM_001144 NP_001135 Q9UKV5 AMFR2_HUMAN Homo sapiens autocrine motility factor receptor (AMFR), mRNA. 594 ER-associated protein catabolic process|endoplasmic reticulum unfolded protein response|protein oligomerization|protein polyubiquitination integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 ACTCACTTGCGAGCTTGCTGG 0.542000 22 17 0 0 0.014323 0 0 FBN1 2200 broad.mit.edu 37 15 48782180 48782180 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr15:48782180C>T uc001zwx.2 - 24 3345 c.2950G>A c.(2950-2952)Gtc>Atc p.V984I NM_000138 NP_000129 P35555 FBN1_HUMAN Homo sapiens fibrillin 1 (FBN1), mRNA. 984 TB 5. V -> I (in MFS). heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) GCTGCCCCGACGGAGCAGCAG 0.602000 52 21 0 0 0.012319 0 0 RMND5B 64777 broad.mit.edu 37 5 177569981 177569981 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:177569981G>A uc011dgf.2 + 1 549 c.537G>A c.(535-537)gaG>gaA p.E179E RMND5B_uc003mim.3_Silent_p.E138E|RMND5B_uc003min.3_Silent_p.E138E|RMND5B_uc003mio.3_Silent_p.E125E|RMND5B_uc003miq.3_Silent_p.E78E NM_022762 NP_073599 Q96G75 RMD5B_HUMAN Homo sapiens required for meiotic nuclear division 5 homolog B (S. cerevisiae) (RMND5B), mRNA. 138 CTLH. endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2) 17 all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCGTGGCCGAGGAGCTGTGCC 0.592000 41 10 0 0 0.006214 0 0 KCNB2 9312 broad.mit.edu 37 8 73848683 73848683 + Missense_Mutation SNP T C C TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr8:73848683T>C uc003xzb.3 + 2 1681 c.1093T>C c.(1093-1095)Ttc>Ctc p.F365L NM_004770 NP_004761 Q92953 KCNB2_HUMAN Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA. 365 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) TGCTACCAAGTTCACCAGTAT 0.423000 131 40 0 0 0.010771 0 0 PLA2R1 22925 broad.mit.edu 37 2 160843733 160843733 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr2:160843733C>T uc002ube.2 - 11 2183 c.1971G>A c.(1969-1971)gaG>gaA p.E657E PLA2R1_uc010zcp.2_Silent_p.E657E|PLA2R1_uc002ubf.3_Silent_p.E657E NM_007366 NP_031392 Q13018 PLA2R_HUMAN Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA. 657 endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 AGGGCCATCTCTCTTCATACT 0.493000 35 24 0 0 0.018920 0 0 ANK1 286 broad.mit.edu 37 8 41655036 41655036 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr8:41655036G>A uc003xok.3 - 0 105 c.21C>T c.(19-21)ttC>ttT p.F7F ANK1_uc003xoi.3_Silent_p.F7F|ANK1_uc003xoj.3_Silent_p.F7F|ANK1_uc003xol.3_Silent_p.F7F|ANK1_uc003xom.3_Intron NM_020476 NP_065209 P16157 ANK1_HUMAN Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA. 7 89 kDa domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) TCACTTCGCGGAAGCCCACAG 0.687000 11 7 0 0 0.004482 0 0 CUL9 23113 broad.mit.edu 37 6 43167862 43167862 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr6:43167862C>T uc003ouk.3 + 13 3427 c.3352C>T c.(3352-3354)Ctc>Ttc p.L1118F CUL9_uc003oul.3_Missense_Mutation_p.L1118F|CUL9_uc010jyk.3_Missense_Mutation_p.L270F NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN Homo sapiens cullin 9 (CUL9), mRNA. 1118 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 CTATAGCAACCTCACCTCCAG 0.567000 45 16 0 0 0.007413 0 0 VPS29 51699 broad.mit.edu 37 12 110933831 110933831 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr12:110933831C>T uc001tqy.3 - 1 241 c.181G>A c.(181-183)Gga>Aga p.G61R VPS29_uc001tqw.3_Non-coding_Transcript|VPS29_uc001tqx.3_Missense_Mutation_p.G65R|VPS29_uc001tqz.3_Non-coding_Transcript NM_016226 NP_057310 Q9UBQ0 VPS29_HUMAN Homo sapiens vacuolar protein sorting 29 homolog (S. cerevisiae) (VPS29), transcript variant 1, mRNA. 61 protein transport endosome membrane metal ion binding|phosphoserine phosphatase activity kidney(1)|large_intestine(1)|lung(1)|prostate(1) 4 TCGAAGTCTCCTCTCACAATA 0.403000 39 15 0 0 0.028581 0 0 PHAX 51808 broad.mit.edu 37 5 125939782 125939782 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:125939782G>A uc003kua.2 + 1 665 c.617G>A c.(616-618)aGg>aAg p.R206K NM_032177 NP_115553 Q9H814 PHAX_HUMAN Homo sapiens phosphorylated adaptor for RNA export (PHAX), mRNA. 206 Necessary for interaction with CBP80 (By similarity). ncRNA metabolic process|protein transport|snRNA export from nucleus|spliceosomal snRNP assembly Cajal body|cytosol RNA binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1) 8 GTCAAAGACAGGCTAGGGAAC 0.418000 10 9 0 0 0.008291 0 0 NMNAT3 349565 broad.mit.edu 37 3 139279987 139279987 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:139279987G>A uc003etj.3 - 3 664 c.624C>T c.(622-624)gcC>gcT p.A208A NMNAT3_uc010hul.3_Silent_p.A119A|NMNAT3_uc003etk.3_Silent_p.A171A|NMNAT3_uc003etl.3_Non-coding_Transcript NM_178177 NP_835471 Q96T66 NMNA3_HUMAN Homo sapiens nicotinamide nucleotide adenylyltransferase 3 (NMNAT3), transcript variant 1, mRNA. 208 water-soluble vitamin metabolic process cytosol|mitochondrion ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(4) 9 CTTGGCCCAAGGCTCGCCTGA 0.542000 70 35 0 0 0.013726 0 0 COMMD3-BMI1 100532731 broad.mit.edu 37 10 22615839 22615839 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr10:22615839C>T uc009xkg.3 + 6 597 c.562C>T c.(562-564)Cgt>Tgt p.R188C COMMD3-BMI1_uc001irh.3_Missense_Mutation_p.R45C NM_001204062 NP_001190991 P35226 BMI1_HUMAN Homo sapiens COMMD3-BMI1 readthrough (COMMD3-BMI1), mRNA. 45 Interaction with E4F1. hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent PcG protein complex|cytoplasm|nucleolus|ubiquitin ligase complex RING-like zinc finger domain binding|zinc ion binding GTGTATTGTTCGTTACCTGGA 0.363000 120 63 0 0 0.014410 0 0 CYP11B2 1585 broad.mit.edu 37 8 143996243 143996243 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr8:143996243G>A uc003yxk.1 - 3 680 c.677C>T c.(676-678)gCc>gTc p.A226V NM_000498 NP_000489 P19099 C11B2_HUMAN Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 2 (CYP11B2), nuclear gene encoding mitochondrial protein, mRNA. 226 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3) 39 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-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) Candesartan(DB00796)|Metyrapone(DB01011) GACCTCCAGGGCATGGAGGAA 0.597000 Familial Hyperaldosteronism type I 77 19 0 0 0.012319 0 0 PRTG 283659 broad.mit.edu 37 15 55930812 55930812 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr15:55930812C>T uc002adg.3 - 13 2435 c.2387G>A c.(2386-2388)cGa>cAa p.R796Q NM_173814 NP_776175 Q2VWP7 PRTG_HUMAN Homo sapiens protogenin (PRTG), mRNA. 796 Fibronectin type-III 4. multicellular organismal development integral to membrane breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) CACATGTAATCGAACGGCAAA 0.393000 22 13 0 0 0.024245 0 0 CUX1 1523 broad.mit.edu 37 7 101877387 101877387 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:101877387C>T uc003uys.4 + 21 3649 c.3522C>T c.(3520-3522)gaC>gaT p.D1174D CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Silent_p.D1163D NM_001202543 NP_001189472 P39880 CUX1_HUMAN Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA. 1163 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 CTGTCTCTGACCTCCTTGCCC 0.557000 57 50 0 0 0.014410 0 0 DDR1 780 broad.mit.edu 37 6 30862335 30862335 + Missense_Mutation SNP G T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr6:30862335G>T uc003nrv.3 + 9 1442 c.1400G>T c.(1399-1401)gGg>gTg p.G467V DDR1_uc010jse.3_Missense_Mutation_p.G467V|DDR1_uc003nrq.3_Missense_Mutation_p.G467V|DDR1_uc003nrr.3_Missense_Mutation_p.G467V|DDR1_uc003nrs.3_Missense_Mutation_p.G467V|DDR1_uc003nrt.3_Missense_Mutation_p.G467V|DDR1_uc011dms.2_Missense_Mutation_p.G485V|DDR1_uc003nru.3_Missense_Mutation_p.G467V|DDR1_uc003nry.2_Missense_Mutation_p.G467V|DDR1_uc003nrx.2_Intron|DDR1_uc003nrw.1_Intron NM_013994 NP_054700 Q08345 DDR1_HUMAN Homo sapiens discoidin domain receptor tyrosine kinase 1 (DDR1), transcript variant 3, mRNA. 467 cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1) 29 Imatinib(DB00619) TCTGTCCCTGGGGACACTATC 0.627000 113 4 3.59834e-05 3.66717e-05 0.021553 1 0 LIMK2 3985 broad.mit.edu 37 22 31674412 31674412 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr22:31674412G>A uc003akh.3 + 15 2047 c.1902G>A c.(1900-1902)cgG>cgA p.R634R LIMK2_uc003aki.3_Silent_p.R388R|LIMK2_uc003akk.3_Silent_p.R613R|LIMK2_uc011aln.2_Silent_p.R551R NM_005569 NP_005560 P53671 LIMK2_HUMAN Homo sapiens LIM domain kinase 2 (LIMK2), transcript variant 2a, mRNA. 634 mitochondrion|nucleus ATP binding|protein serine/threonine kinase activity|zinc ion binding p.R634L(1) endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1) 29 GCCTGACCCGGGACTCACCTC 0.667000 69 44 0 0 0.036044 0 0 NUCKS1 64710 broad.mit.edu 37 1 205696889 205696889 + Nonsense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:205696889G>A uc001hdb.3 - 2 383 c.112C>T c.(112-114)Cga>Tga p.R38* NM_022731 NP_073568 Q9H1E3 NUCKS_HUMAN Homo sapiens nuclear casein kinase and cyclin-dependent kinase substrate 1 (NUCKS1), mRNA. 38 nucleus endometrium(4)|large_intestine(1)|lung(9) 14 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0194) GGAGATGATCGAATTTTCTTA 0.363000 41 10 0 0 0.010729 0 0 SHANK2 22941 broad.mit.edu 37 11 70332254 70332254 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:70332254C>T uc001oqc.3 - 20 4058 c.3946G>A c.(3946-3948)Gaa>Aaa p.E1316K SHANK2_uc010rqn.2_Missense_Mutation_p.E792K|SHANK2_uc001opz.3_Missense_Mutation_p.E787K|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA. 1003 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) ACCGCCTCTTCCATGGAGCCC 0.587000 22 20 0 0 0.010504 0 0 COL11A1 1301 broad.mit.edu 37 1 103356019 103356019 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:103356019G>A uc001dum.3 - 57 4698 c.4380C>T c.(4378-4380)tcC>tcT p.S1460S COL11A1_uc001duk.3_Silent_p.S644S|COL11A1_uc001dul.3_Silent_p.S1448S|COL11A1_uc001dun.3_Silent_p.S1409S|COL11A1_uc009weh.3_Silent_p.S1332S NM_080629 NP_542196 P12107 COBA1_HUMAN Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA. 1448 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TTTCACCCTTGGAGCCAGGGT 0.338000 10 5 0 0 0.021553 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142481351 142481351 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:142481351C>T uc011ksq.2 + 2 508 c.425C>T c.(424-426)tCc>tTc p.S142F TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_Non-coding_Transcript Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA. TGCCTTATCTCCGGCTGGGGC 0.562000 8 15 0 0 0.020292 0 0 KPNA2 3838 broad.mit.edu 37 17 66039321 66039321 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:66039321C>T uc002jgk.3 + 6 904 c.772C>T c.(772-774)Cgg>Tgg p.R258W KPNA2_uc002jgl.3_Missense_Mutation_p.R258W NM_002266 NP_002257 P52292 IMA2_HUMAN Homo sapiens karyopherin alpha 2 (RAG cohort 1, importin alpha 1) (KPNA2), mRNA. 258 DNA metabolic process|G2 phase of mitotic cell cycle|M phase specific microtubule process|NLS-bearing substrate import into nucleus|interspecies interaction between organisms|regulation of DNA recombination cytoplasm|nuclear pore|nucleoplasm histone deacetylase binding|nuclear localization sequence binding|protein transporter activity breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2) 22 all_cancers(12;1.18e-09) BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24) TACCTTAGTTCGGCTCCTGCA 0.453000 171 103 0 0 0.014410 0 0 MED12L 116931 broad.mit.edu 37 3 151148112 151148112 + Missense_Mutation SNP C T T rs147600909 by1000genomes TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:151148112C>T uc003eyp.3 + 41 6458 c.6329C>T c.(6328-6330)aCc>aTc p.T2110I MED12L_uc011bnz.2_Missense_Mutation_p.T1774I NM_053002 NP_443728 Q86YW9 MD12L_HUMAN Homo sapiens mediator complex subunit 12-like (MED12L), mRNA. 2110 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TTGCAGCAGACCCAGCAGCAG 0.542000 76 21 0 0 0.018920 0 0 NEK10 152110 broad.mit.edu 37 3 27183064 27183064 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:27183064C>T uc010hfk.3 - 11 1215 c.986G>A c.(985-987)gGa>gAa p.G329E NEK10_uc010hfj.3_Missense_Mutation_p.G272E Q6ZWH5 NEK10_HUMAN Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA. 1017 ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 CACAGCAATTCCTGCTGATGC 0.343000 51 35 0 0 0.017118 0 0 SNAPC4 6621 broad.mit.edu 37 9 139272679 139272679 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr9:139272679G>A uc004chh.3 - 20 3609 c.3600C>T c.(3598-3600)ccC>ccT p.P1200P NM_003086 NP_003077 Q5SXM2 SNPC4_HUMAN Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA. 1200 Pro-rich. snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) CGGACCAAGGGGGTTCTGCTT 0.682000 22 6 0 0 0.029380 0 0 WNT5B 81029 broad.mit.edu 37 12 1748983 1748983 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr12:1748983G>A uc009zdq.3 + 3 704 c.462G>A c.(460-462)cgG>cgA p.R154R WNT5B_uc001qjj.3_Silent_p.R154R|WNT5B_uc001qjk.3_Silent_p.R154R|WNT5B_uc001qjl.3_Silent_p.R154R NM_032642 NP_116031 Q9H1J7 WNT5B_HUMAN Homo sapiens wingless-type MMTV integration site family, member 5B (WNT5B), transcript variant 1, mRNA. 154 Wnt receptor signaling pathway, calcium modulating pathway|angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled-2 binding skin(1) 1 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00109) ACCTGCCCCGGGACTGGCTGT 0.701000 40 19 0 0 0.008871 0 0 ZFHX3 463 broad.mit.edu 37 16 72991912 72991913 + Missense_Mutation DNP GG AA AA TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr16:72991912_72991913GG>AA uc002fck.3 - 1 2805_2806 c.2132_2133CC>TT c.(2131-2133)ccc>cTT p.P711L ZFHX3_uc002fcl.3_Intron NM_006885 NP_008816 Q15911 ZFHX3_HUMAN Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA. 711 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) GTGCCAGCCGGGGGTGGGGCTG 0.579000 95 37 0 0 0.004672 0 0 TEAD2 8463 broad.mit.edu 37 19 49846519 49846519 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:49846519G>A uc002pnh.3 - 10 1164 c.1058C>T c.(1057-1059)tCt>tTt p.S353F AK097351_uc002pnb.1_5'Flank|TEAD2_uc002png.3_Missense_Mutation_p.S352F|TEAD2_uc002pni.3_Missense_Mutation_p.S352F|TEAD2_uc002pnj.3_Missense_Mutation_p.S349F|TEAD2_uc010yao.2_Missense_Mutation_p.S221F|TEAD2_uc010emw.3_Missense_Mutation_p.S352F NM_003598 NP_003589 Q15562 TEAD2_HUMAN Homo sapiens TEA domain family member 2 (TEAD2), mRNA. 349 Transcriptional activation (Potential). hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.Q353H(1) central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 29 all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467) CTTGCCAAAAGAGCAGACCTT 0.597000 45 25 0 0 0.016522 0 0 TGM3 7053 broad.mit.edu 37 20 2315889 2315889 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr20:2315889C>T uc002wfx.4 + 10 1867 c.1770C>T c.(1768-1770)atC>atT p.I590I NM_003245 NP_003236 Q08188 TGM3_HUMAN Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA. 590 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity p.D589V(1) breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 39 L-Glutamine(DB00130) AGCGGGACATCATCCTGGACA 0.602000 59 22 0 0 0.016522 0 0 NUDT4 11163 broad.mit.edu 37 12 93793086 93793086 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr12:93793086C>T uc010sup.2 + 4 875 c.477C>T c.(475-477)tcC>tcT p.S159S NUDT4_uc001tcm.3_Silent_p.S158S|NUDT4_uc001tcn.3_Silent_p.S106S|NUDT4_uc010suq.2_Silent_p.S107S|NUDT4_uc001tco.3_Silent_p.S106S NM_199040 NP_950241 Q9NZJ9 NUDT4_HUMAN Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 4 (NUDT4), transcript variant 2, mRNA. 158 calcium-mediated signaling|cyclic nucleotide metabolic process|cyclic-nucleotide-mediated signaling|intracellular transport|regulation of RNA export from nucleus cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding endometrium(2)|kidney(1)|lung(2) 5 CAGTCCCTTCCCTTCCGGATA 0.473000 227 22 0 0 0.024334 0 0 BCR 613 broad.mit.edu 37 22 23653911 23653911 + Silent SNP C T T rs141798488 byFrequency TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr22:23653911C>T uc002zww.3 + 18 3806 c.3210C>T c.(3208-3210)atC>atT p.I1070I BCR_uc002zwx.3_Silent_p.I1026I|BCR_uc011aiy.2_Silent_p.I659I NM_004327 NP_004318 P11274 BCR_HUMAN Homo sapiens breakpoint cluster region (BCR), transcript variant 1, mRNA. 1070 Rho-GAP. regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity BCR/JAK2(6) central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 35 TGCCCTACATCGTGCGCCAGT 0.617000 T """ABL1, FGFR1, JAK2 """ """CML, ALL, AML""" 15 10 0 0 0.008291 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144879284 144879284 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:144879284G>A uc021ouh.1 - 26 4468 c.4166C>T c.(4165-4167)tCg>tTg p.S1389L NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.S1389L|PDE4DIP_uc001elx.4_Missense_Mutation_p.S1345L|PDE4DIP_uc001elv.4_Missense_Mutation_p.S396L NM_001198834 NP_001185763 Q5VU43 MYOME_HUMAN Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA. 1389 cellular protein complex assembly Golgi apparatus|centrosome|myofibril|nucleus enzyme binding p.S1389S(1) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CAGACTAGACGAATAATCACT 0.517000 T PDGFRB MPD 272 36 0 0 0.019004 0 0 SCAND3 114821 broad.mit.edu 37 6 28542450 28542450 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr6:28542450G>A uc003nlo.3 - 2 2650 c.2032C>T c.(2032-2034)Cca>Tca p.P678S NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN Homo sapiens SCAN domain containing 3 (SCAND3), mRNA. 678 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 GGTGAAAATGGTGTCCCTGAT 0.403000 110 47 0 0 0.014410 0 0 ERN2 10595 broad.mit.edu 37 16 23716268 23716268 + Nonsense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr16:23716268G>A uc002dma.4 - 7 1103 c.934C>T c.(934-936)Cga>Tga p.R312* ERN2_uc010bxp.3_Nonsense_Mutation_p.R312*|ERN2_uc010bxq.1_Nonsense_Mutation_p.R120* NM_033266 NP_150296 Q76MJ5 ERN2_HUMAN Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA. 264 apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) GCAGGCAGTCGGATGTGGCCC 0.677000 70 36 0 0 0.015359 0 0 CLCN1 1180 broad.mit.edu 37 7 143036388 143036389 + Missense_Mutation DNP GG AA AA TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:143036388_143036389GG>AA uc003wcr.1 + 12 1531_1532 c.1444_1445GG>AA c.(1444-1446)gga>AAa p.G482K CLCN1_uc011ktc.1_Missense_Mutation_p.G94K NM_000083 NP_000074 P35523 CLCN1_HUMAN Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA. 482 G -> R (in MCR). muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) CATACCCTGCGGAGGCTTCATG 0.505000 201 53 0 0 0.004672 0 0 C1orf109 54955 broad.mit.edu 37 1 38155520 38155520 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:38155520C>T uc010oig.2 - 1 327 c.222G>A c.(220-222)caG>caA p.Q74Q C1orf109_uc001cbo.3_Silent_p.Q73Q|C1orf109_uc001cbp.3_Silent_p.Q11Q|C1orf109_uc001cbq.1_Silent_p.Q11Q|CDCA8_uc001cbr.3_5'Flank|CDCA8_uc001cbs.3_5'Flank NM_017850 NP_060320 Q9NX04 CA109_HUMAN Homo sapiens chromosome 1 open reading frame 109 (C1orf109), mRNA. 11 lung(2)|prostate(2) 4 Myeloproliferative disorder(586;0.0393) TCAGCGCCTCCTGCACGGCAA 0.597000 42 5 0 0 0.021553 0 0 RSPH6A 81492 broad.mit.edu 37 19 46307590 46307590 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:46307590C>T uc002pdm.3 - 2 1744 c.1573G>A c.(1573-1575)Gac>Aac p.D525N RSPH6A_uc002pdl.3_Missense_Mutation_p.D261N NM_030785 NP_110412 Q9H0K4 RSH6A_HUMAN Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA. 525 Glu-rich. intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 CCCTCGAAGTCCGGGTTCTCC 0.657000 41 24 0 0 0.018920 0 0 SCNN1G 6340 broad.mit.edu 37 16 23224037 23224037 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr16:23224037G>A uc002dlm.1 + 8 1472 c.1333G>A c.(1333-1335)Gaa>Aaa p.E445K NM_001039 NP_001030 P51170 SCNNG_HUMAN Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA. 445 excretion|sensory perception of taste apical plasma membrane|integral to plasma membrane WW domain binding|ligand-gated sodium channel activity NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 34 GBM - Glioblastoma multiforme(48;0.0366) Amiloride(DB00594)|Triamterene(DB00384) CTTTGTCCAGGAAGAGCTGGG 0.587000 71 16 0 0 0.033300 0 0 NHSL2 340527 broad.mit.edu 37 X 71360111 71360111 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chrX:71360111C>T uc011mqa.2 + 5 2713 c.2713C>T c.(2713-2715)Ccc>Tcc p.P905S NHSL2_uc004eak.1_Missense_Mutation_p.P539S|NHSL2_uc010nli.2_Missense_Mutation_p.P674S NM_001013627 NP_001013649 F5H593 F5H593_HUMAN Homo sapiens NHS-like 2 (NHSL2), mRNA. 905 NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1) 28 Renal(35;0.156) CTTGGCTATGCCCCCCAGGAG 0.577000 35 3 0 0 0.004672 0 0 COPE 11316 broad.mit.edu 37 19 19016389 19016389 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:19016389C>T uc002nkk.3 - 4 535 c.493G>A c.(493-495)Gcc>Acc p.A165T COPE_uc002nkl.3_Missense_Mutation_p.A114T|COPE_uc002nkm.3_Missense_Mutation_p.A165T NM_007263 NP_009194 O14579 COPE_HUMAN Homo sapiens coatomer protein complex, subunit epsilon (COPE), transcript variant 1, mRNA. 165 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol binding|structural molecule activity breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 11 GCTCACCGGGCGAGGTCCAGG 0.662000 36 14 0 0 0.020292 0 0 POLR3K 51728 broad.mit.edu 37 16 101619 101619 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr16:101619C>T uc002cfi.2 - 1 184 c.138G>A c.(136-138)ctG>ctA p.L46L SNRNP25_uc002cfj.4_5'Flank NM_016310 NP_057394 Q9Y2Y1 RPC10_HUMAN Homo sapiens polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa (POLR3K), mRNA. 46 innate immune response|response to virus|transcription from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|zinc ion binding central_nervous_system(1)|large_intestine(1)|skin(1) 3 all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239) CCACTTCTTTCAGTTTTGGGT 0.438000 39 20 0 0 0.014323 0 0 PITPNM2 57605 broad.mit.edu 37 12 123477172 123477172 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr12:123477172G>A uc001uej.1 - 14 2477 c.2278C>T c.(2278-2280)Cac>Tac p.H760Y PITPNM2_uc001uek.1_Missense_Mutation_p.H760Y NM_020845 NP_065896 Q9BZ72 PITM2_HUMAN Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA. 760 DDHD. metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 39 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) TCCGCGGGGTGGAAGAGGTTG 0.682000 122 35 0 0 0.021022 0 0 KIAA1045 23349 broad.mit.edu 37 9 34976626 34976626 + Missense_Mutation SNP G C C TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr9:34976626G>C uc003zvq.3 + 4 916 c.738G>C c.(736-738)gaG>gaC p.E246D KIAA1045_uc003zvr.3_Missense_Mutation_p.E246D NM_015297 NP_056112 Q9UPV7 K1045_HUMAN Homo sapiens KIAA1045 (KIAA1045), mRNA. 246 calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 LUSC - Lung squamous cell carcinoma(32;0.00575) AGCAAGAAGAGCAGGCGGCCC 0.612000 57 6 0 0 0.021553 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117431982 117431982 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:117431982G>A uc003vjf.3 - 3 1360 c.1268C>T c.(1267-1269)cCa>cTa p.P423L NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA. 423 Pro-rich. breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) GTGCATAGGTGGAGCTTGCGA 0.517000 195 60 0 0 0.014410 0 0 ZNF880 400713 broad.mit.edu 37 19 52877582 52877582 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:52877582C>T uc002pzc.3 + 2 219 c.170C>T c.(169-171)tCc>tTc p.S57F ZNF880_uc002pzb.4_Non-coding_Transcript|ZNF880_uc021uyu.1_Missense_Mutation_p.S57F NM_001145434 NP_001138906 Q6PDB4 ZN880_HUMAN Homo sapiens zinc finger protein 880 (ZNF880), mRNA. 57 KRAB. regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1) 10 AGTGTTATCTCCATGTTGGAG 0.433000 13 8 0 0 0.004482 0 0 PCP4 5121 broad.mit.edu 37 21 41301006 41301006 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr21:41301006C>T uc002yyp.3 + 2 240 c.159C>T c.(157-159)ttC>ttT p.F53F NM_006198 NP_006189 P48539 PCP4_HUMAN Homo sapiens Purkinje cell protein 4 (PCP4), mRNA. 53 IQ. central nervous system development cytosol|nucleus p.F53L(2) large_intestine(2)|lung(1)|skin(1) 4 Prostate(19;2.65e-06)|all_epithelial(19;0.138) TCAGAAAATTCCAGAAGAAGA 0.448000 36 9 0 0 0.004482 0 0 RUSC2 9853 broad.mit.edu 37 9 35561090 35561090 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr9:35561090C>T uc003zww.3 + 10 4600 c.4345C>T c.(4345-4347)Ccg>Tcg p.P1449S RUSC2_uc010mkq.3_Non-coding_Transcript|RUSC2_uc003zwx.4_Missense_Mutation_p.P1449S NM_014806 NP_055621 Q8N2Y8 RUSC2_HUMAN Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA. 1449 SH3. cytosol NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) CTCCAGTCCTCCGTGGTAAGC 0.647000 19 15 0 0 0.020292 0 0 DENND2C 163259 broad.mit.edu 37 1 115137132 115137132 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:115137132C>T uc001efd.1 - 17 3095 c.2393G>A c.(2392-2394)cGa>cAa p.R798Q DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Missense_Mutation_p.R741Q NM_198459 NP_940861 Q68D51 DEN2C_HUMAN Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA. 798 NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3) 37 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GATTTCATTTCGTTCTTCCAA 0.353000 49 26 0 0 0.027356 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178554984 178554984 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:178554984G>A uc003mjw.3 - 16 2695 c.2593C>T c.(2593-2595)Ccg>Tcg p.P865S NM_014244 NP_055059 O95450 ATS2_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA. 865 TSP type-1 2. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.P865L(1) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) TTGGAGCACGGAGACCACTTC 0.582000 67 28 0 0 0.009535 0 0 TSPAN32 10077 broad.mit.edu 37 11 2334923 2334923 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:2334923G>A uc001lvy.1 + 4 531 c.394G>A c.(394-396)Gag>Aag p.E132K TSPAN32_uc001lvx.1_Missense_Mutation_p.E191K|TSPAN32_uc009ydk.1_Missense_Mutation_p.E142K|TSPAN32_uc010qxk.2_Missense_Mutation_p.E167K|TSPAN32_uc009ydl.1_Non-coding_Transcript|TSPAN32_uc001lvz.1_Missense_Mutation_p.E102K|TSPAN32_uc001lwb.1_Missense_Mutation_p.E102K|TSPAN32_uc001lwc.1_Missense_Mutation_p.E77K|TSPAN32_uc001lwd.1_5'Flank NM_139022 NP_620591 Q96QS1 TSN32_HUMAN Homo sapiens tetraspanin 32 (TSPAN32), mRNA. 132 cell-cell signaling integral to membrane breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1) 8 all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209) BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153) CCTGGTATATGAGCAGGCGAT 0.677000 10 5 0 0 0.014758 0 0 MGAM 8972 broad.mit.edu 37 7 141730492 141730492 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:141730492G>A uc003vwy.3 + 11 1459 c.1405G>A c.(1405-1407)Gac>Aac p.D469N NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 469 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TGGCCCATATGACAGGGGTTC 0.468000 94 26 0 0 0.027356 0 0 PHLPP2 23035 broad.mit.edu 37 16 71710360 71710360 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr16:71710360G>A uc002fax.3 - 7 1467 c.1461C>T c.(1459-1461)gcC>gcT p.A487A PHLPP2_uc002fav.3_Non-coding_Transcript|PHLPP2_uc010cgf.3_Silent_p.A487A NM_015020 NP_055835 Q6ZVD8 PHLP2_HUMAN Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA. 487 cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 TGTTGGAACTGGCATAGAGGG 0.502000 34 17 0 0 0.007413 0 0 HNF4A 3172 broad.mit.edu 37 20 43058205 43058205 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr20:43058205G>A uc002xma.3 + 9 1414 c.1325G>A c.(1324-1326)gGg>gAg p.G442E HNF4A_uc002xlu.3_Missense_Mutation_p.G410E|HNF4A_uc002xlv.3_Missense_Mutation_p.G420E|HNF4A_uc010ggq.3_Missense_Mutation_p.G435E|HNF4A_uc002xlz.3_Missense_Mutation_p.G432E NM_000457 NP_000448 P41235 HNF4A_HUMAN Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA. 442 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 34 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) GGTGGCTCAGGGTCTGAGCCC 0.597000 328 139 0 0 0.014410 0 0 NRG2 9542 broad.mit.edu 37 5 139251407 139251407 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:139251407G>A uc003lev.2 - 3 1241 c.1011C>T c.(1009-1011)tcC>tcT p.S337S NRG2_uc003lew.2_Silent_p.S337S|NRG2_uc003lex.2_Silent_p.S337S|NRG2_uc003ley.2_Silent_p.S337S|NRG2_uc021yed.1_Intron NM_013982 NP_053585 O14511 NRG2_HUMAN Homo sapiens neuregulin 2 (NRG2), transcript variant 3, mRNA. 337 Ser/Thr-rich. embryo development extracellular region|integral to membrane|plasma membrane growth factor activity breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 25 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCCCGACCAGGATGACAGGG 0.577000 39 19 0 0 0.007413 0 0 FAM71B 153745 broad.mit.edu 37 5 156590534 156590534 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:156590534C>T uc003lwn.3 - 1 842 c.742G>A c.(742-744)Gct>Act p.A248T NM_130899 NP_570969 Q8TC56 FA71B_HUMAN Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA. 248 Ala-rich. nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GATGGAGAAGCCGCACTAGCC 0.582000 161 22 0 0 0.014323 0 0 ZHX2 22882 broad.mit.edu 37 8 123963790 123963790 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr8:123963790C>T uc022bag.1 + 0 40 c.40C>T c.(40-42)Cgg>Tgg p.R14W ZHX2_uc003ypk.1_Missense_Mutation_p.R14W NM_014943 NP_055758 Q9Y6X8 ZHX2_HUMAN Homo sapiens zinc fingers and homeoboxes 2 (ZHX2), mRNA. 14 cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 45 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) ATGCATGGTTCGGACATCACA 0.512000 32 13 0 0 0.013537 0 0 NOS2 4843 broad.mit.edu 37 17 26108131 26108131 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:26108131G>A uc002gzu.3 - 7 1059 c.795C>T c.(793-795)atC>atT p.I265I NOS2_uc010crh.1_Silent_p.I265I|NOS2_uc010wab.1_Silent_p.I265I NM_000625 NP_000616 P35228 NOS2_HUMAN Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA. 265 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus FMN binding|NADP binding|arginine binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 56 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) CAGCATAGCGGATGAGCTGAG 0.597000 53 34 0 0 0.017118 0 0 TSC2 7249 broad.mit.edu 37 16 2134315 2134315 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr16:2134315C>T uc002con.3 + 33 4198 c.4092C>T c.(4090-4092)tcC>tcT p.S1364S TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Silent_p.S1341S|TSC2_uc002coo.3_Silent_p.S1297S|TSC2_uc010uvv.2_Silent_p.S1261S|TSC2_uc010uvw.2_Silent_p.S1249S|TSC2_uc002cop.3_Silent_p.S1120S|TSC2_uc002coq.3_Silent_p.S139S NM_000548 NP_000539 P49815 TSC2_HUMAN Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA. 1364 cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|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|TSC1-TSC2 complex|nucleus|perinuclear region of cytoplasm GTPase activator activity|protein homodimerization activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1) 56 Hepatocellular(780;0.0202) GAGTCGTCTCCTCGGAGGGTG 0.647000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 34 13 0 0 0.028581 0 0 ZNF683 257101 broad.mit.edu 37 1 26691525 26691525 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:26691525G>A uc001bmg.1 - 3 630 c.512C>T c.(511-513)gCt>gTt p.A171V ZNF683_uc001bmh.1_Missense_Mutation_p.A171V|ZNF683_uc009vsj.1_Missense_Mutation_p.A171V NM_173574 NP_775845 Q8IZ20 ZN683_HUMAN Homo sapiens zinc finger protein 683 (ZNF683), transcript variant 2, mRNA. 171 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 15 all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233) GGGGCAGAAAGCCAAGGGGCT 0.617000 13 14 0 0 0.024245 0 0 ARIH2 10425 broad.mit.edu 37 3 49002404 49002404 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:49002404C>T uc003cvb.3 + 4 688 c.376C>T c.(376-378)Cca>Tca p.P126S ARIH2_uc003cvc.3_Missense_Mutation_p.P126S|ARIH2_uc003cvf.3_Missense_Mutation_p.P44S|ARIH2_uc010hkl.3_Missense_Mutation_p.P126S NM_006321 NP_006312 O95376 ARI2_HUMAN Homo sapiens ariadne homolog 2 (Drosophila) (ARIH2), mRNA. 126 developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding p.P126A(2) cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 13 BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269) TCAGCCTAATCCATCAAAACA 0.398000 42 9 0 0 0.006214 0 0 TTN 7273 broad.mit.edu 37 2 179568880 179568880 + Missense_Mutation SNP T A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr2:179568880T>A uc021vsy.1 - 102 26710 c.26485A>T c.(26485-26487)Atc>Ttc p.I8829F TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.I5490F NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 9756 Ig-like 71. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCACCTTCGATTCTGAGTTCT 0.473000 143 13 0 0 0.028581 0 0 CXADRP2 646243 broad.mit.edu 37 15 22016238 22016238 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr15:22016238G>A uc010tzk.1 - 0 641 c.479C>T c.(478-480)tCa>tTa p.S160L Homo sapiens coxsackie virus and adenovirus receptor pseudogene 2 (CXADRP2), non-coding RNA. TGCTAACCATGAAGTGGGCAT 0.378000 30 5 0 0 0.004482 0 0 ACSM2B 348158 broad.mit.edu 37 16 20566652 20566652 + Missense_Mutation SNP T A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr16:20566652T>A uc002dhj.4 - 4 745 c.535A>T c.(535-537)Att>Ttt p.I179F ACSM2B_uc002dhk.4_Missense_Mutation_p.I179F|ACSM2B_uc010bwf.1_Missense_Mutation_p.I179F NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 179 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 AGTAGCTTAATTCTCAGAGAA 0.433000 127 65 0 0 0.014410 0 0 ARAP2 116984 broad.mit.edu 37 4 36122870 36122870 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr4:36122870C>T uc003gsq.2 - 22 4163 c.3825G>A c.(3823-3825)acG>acA p.T1275T NM_015230 NP_056045 Q8WZ64 ARAP2_HUMAN Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA. 1275 Rho-GAP. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 TTTGTCCCTTCGTTTGAAACA 0.338000 21 5 0 0 0.014758 0 0 ARL9 132946 broad.mit.edu 37 4 57389959 57389959 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr4:57389959C>T uc003hby.1 + 3 737 c.289C>T c.(289-291)Ctg>Ttg p.L97L NM_206919 NP_996802 Q6T311 ARL9_HUMAN Homo sapiens ADP-ribosylation factor-like 9 (ARL9), mRNA. 161 GTP binding lung(2) 2 Glioma(25;0.08)|all_neural(26;0.101) TGGAACCTACCTGACTAAGAA 0.468000 19 14 0 0 0.016723 0 0 KCNB2 9312 broad.mit.edu 37 8 73850264 73850264 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr8:73850264C>T uc003xzb.3 + 2 3262 c.2674C>T c.(2674-2676)Cca>Tca p.P892S NM_004770 NP_004761 Q92953 KCNB2_HUMAN Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA. 892 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) CTTGTTTGCCCCAGAAATTCA 0.413000 72 14 0 0 0.020292 0 0 DNAH10 196385 broad.mit.edu 37 12 124330546 124330546 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr12:124330546G>A uc001uft.4 + 30 5330 c.5305G>A c.(5305-5307)Gaa>Aaa p.E1769K NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA. 1769 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GTTTGACTGGGAAAGTCAGTT 0.557000 121 41 0 0 0.011902 0 0 MYO1G 64005 broad.mit.edu 37 7 45007302 45007302 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:45007302C>T uc003tmh.2 - 13 1828 c.1684G>A c.(1684-1686)Ggg>Agg p.G562R MYO1G_uc003tmg.2_Missense_Mutation_p.G324R|MYO1G_uc010kym.2_Missense_Mutation_p.G447R|MYO1G_uc003tmi.1_Missense_Mutation_p.G474R NM_033054 NP_149043 B0I1T2 MYO1G_HUMAN Homo sapiens myosin IG (MYO1G), mRNA. 562 Myosin head-like. myosin complex|plasma membrane ATP binding|actin binding|calmodulin binding|motor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4) 28 TCCTGCTGCCCGTCCGGCCAC 0.642000 93 25 0 0 0.024334 0 0 NR0B2 8431 broad.mit.edu 37 1 27239984 27239984 + Nonsense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:27239984G>A uc001bnf.3 - 0 584 c.448C>T c.(448-450)Caa>Taa p.Q150* BC016143_uc021ojq.1_Intron NM_021969 NP_068804 Q15466 NR0B2_HUMAN Homo sapiens nuclear receptor subfamily 0, group B, member 2 (NR0B2), mRNA. 150 Ligand-binding (By similarity). cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity NS(1)|large_intestine(1)|lung(3) 5 all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419) AGACAGCATTGAAGCCACTGC 0.597000 23 55 0 0 0.014410 0 0 CACNA1E 777 broad.mit.edu 37 1 181702639 181702639 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:181702639C>T uc009wxt.3 + 20 3210 c.3015C>T c.(3013-3015)ccC>ccT p.P1005P CACNA1E_uc001gow.3_Silent_p.P1005P|CACNA1E_uc009wxs.3_Silent_p.P986P|CACNA1E_uc001gox.1_Silent_p.P231P NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 1005 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CTGACACCCCCCTAGTCCTGC 0.622000 40 14 0 0 0.024245 0 0 ZNF780B 163131 broad.mit.edu 37 19 40542123 40542123 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:40542123G>A uc002omu.3 - 4 708 c.643C>T c.(643-645)Cat>Tat p.H215Y ZNF780B_uc002omv.3_Missense_Mutation_p.H67Y NM_001005851 NP_001005851 Q9Y6R6 Z780B_HUMAN Homo sapiens zinc finger protein 780B (ZNF780B), mRNA. 215 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TCACCAGTATGAAATTTCTGA 0.373000 39 11 0 0 0.013537 0 0 METAP1D 254042 broad.mit.edu 37 2 172928456 172928456 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr2:172928456C>T uc002uhk.3 + 2 289 c.216C>T c.(214-216)gaC>gaT p.D72D METAP1D_uc010zdw.2_5'UTR NM_199227 NP_954697 Q6UB28 AMP1D_HUMAN Homo sapiens methionyl aminopeptidase type 1D (mitochondrial) (METAP1D), nuclear gene encoding mitochondrial protein, mRNA. 72 N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis mitochondrion aminopeptidase activity|metal ion binding|metalloexopeptidase activity NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1) 8 AGAAGCCAGACTATGTGACGA 0.478000 14 7 0 0 0.003080 0 0 CDH10 1008 broad.mit.edu 37 5 24593395 24593395 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:24593395C>T uc003jgr.2 - 1 711 c.205G>A c.(205-207)Gga>Aga p.G69R CDH10_uc011cnu.2_Non-coding_Transcript NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA. 69 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) TAATCAGATCCTGTATATTCT 0.338000 HNSCC(23;0.051) 63 5 0 0 0.029380 0 0 PORCN 64840 broad.mit.edu 37 X 48371041 48371041 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chrX:48371041C>T uc010nie.1 + 5 778 c.620C>T c.(619-621)tCc>tTc p.S207F PORCN_uc004djr.1_Missense_Mutation_p.S207F|PORCN_uc004djs.1_Missense_Mutation_p.S207F|PORCN_uc011mlx.1_Missense_Mutation_p.S136F|PORCN_uc004dju.1_Missense_Mutation_p.S76F|PORCN_uc004djv.1_Missense_Mutation_p.S207F|PORCN_uc004djw.1_Missense_Mutation_p.S207F NM_203475 NP_982301 Q9H237 PORCN_HUMAN Homo sapiens porcupine homolog (Drosophila) (PORCN), transcript variant D, mRNA. 207 Wnt receptor signaling pathway endoplasmic reticulum membrane|integral to membrane acyltransferase activity breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CTTGTGCTGTCCACTTGCGTG 0.642000 5 22 0 0 0.021523 0 0 ZNF462 58499 broad.mit.edu 37 9 109688243 109688243 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr9:109688243C>T uc004bcz.3 + 2 2339 c.2050C>T c.(2050-2052)Cct>Tct p.P684S MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Missense_Mutation_p.P532S|ZNF462_uc004bda.3_Missense_Mutation_p.P532S NM_021224 NP_067047 Q96JM2 ZN462_HUMAN Homo sapiens zinc finger protein 462 (ZNF462), mRNA. 684 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 CAATGACTTTCCTCTAGATTT 0.438000 152 78 0 0 0.014410 0 0 EHHADH 1962 broad.mit.edu 37 3 184910290 184910290 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:184910290G>A uc003fpf.3 - 6 1972 c.1896C>T c.(1894-1896)ttC>ttT p.F632F EHHADH_uc011brs.2_Silent_p.F536F NM_001966 NP_001957 Q08426 ECHP_HUMAN Homo sapiens enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase (EHHADH), transcript variant 1, mRNA. 632 peroxisome 3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3) 24 all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21) NADH(DB00157) CCAAGATACGGAATGCTTCAT 0.458000 67 35 0 0 0.017118 0 0 TPTE 7179 broad.mit.edu 37 21 10914408 10914408 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr21:10914408C>T uc002yip.1 - 20 1679 c.1311G>A c.(1309-1311)atG>atA p.M437I TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.M419I|TPTE_uc002yir.1_Missense_Mutation_p.M399I|TPTE_uc010gkv.1_Missense_Mutation_p.M299I NM_199261 NP_954870 P56180 TPTE_HUMAN Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA. 437 C2 tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.L436H(2)|p.L436I(1)|p.M419I(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CCTTTTTCTCCATTTCTATTT 0.318000 48 4 0 0 0.009096 0 0 CNTD1 124817 broad.mit.edu 37 17 40951250 40951250 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:40951250C>T uc002ibm.4 + 0 397 c.165C>T c.(163-165)atC>atT p.I55I CCDC56_uc010wgz.1_5'Flank|CCDC56_uc002ibl.3_5'Flank|CNTD1_uc010wha.2_Intron NM_173478 NP_775749 Q8N815 CNTD1_HUMAN Homo sapiens cyclin N-terminal domain containing 1 (CNTD1), mRNA. 55 Cyclin N-terminal. central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 10 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0749) AGCCCCAGATCGTGGGTGCGG 0.602000 16 5 0 0 0.014758 0 0 ERCC6 2074 broad.mit.edu 37 10 50740971 50740971 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr10:50740971C>T uc001jhs.4 - 1 194 c.40G>A c.(40-42)Gag>Aag p.E14K ERCC6_uc009xoe.3_Missense_Mutation_p.E14K|ERCC6_uc001jhu.3_Missense_Mutation_p.E14K NM_000124 NP_000115 Q03468 ERCC6_HUMAN Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA. 14 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 CAGTCTTGCTCCTGAGTTTGA 0.408000 Direct reversal of damage;Nucleotide excision repair (NER) 36 12 0 0 0.010729 0 0 HCN1 348980 broad.mit.edu 37 5 45645406 45645406 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:45645406C>T uc003jok.3 - 1 755 c.730G>A c.(730-732)Gat>Aat p.D244N NM_021072 NP_066550 O60741 HCN1_HUMAN Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA. 244 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 ACTTCAGAATCCATTCCTTTT 0.353000 17 3 0 0 0.004672 0 0 ABCA1 19 broad.mit.edu 37 9 107599324 107599324 + Nonsense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr9:107599324C>T uc004bcl.3 - 10 1652 c.1248G>A c.(1246-1248)tgG>tgA p.W416* NM_005502 NP_005493 O95477 ABCA1_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 1 (ABCA1), mRNA. 416 Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle ATP binding|ATPase activity|anion transmembrane transporter activity|apolipoprotein A-I receptor activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding p.W416*(1) NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TGAGTTCCTCCCACATGCCTT 0.547000 28 16 0 0 0.033300 0 0 DYTN 391475 broad.mit.edu 37 2 207558009 207558010 + Missense_Mutation DNP GG AA AA TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr2:207558009_207558010GG>AA uc002vbr.1 - 8 986_987 c.869_870CC>TT c.(868-870)acc>aTT p.T290I NM_001093730 NP_001087199 A2CJ06 DYTN_HUMAN Homo sapiens dystrotelin (DYTN), mRNA. 290 plasma membrane zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1) 36 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) TGTTTCTGAGGGTCCTGAAGAG 0.490000 43 5 0 0 0.004672 0 0 PLA2G4D 283748 broad.mit.edu 37 15 42375956 42375956 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr15:42375956C>T uc001zox.3 - 6 588 c.493G>A c.(493-495)Gat>Aat p.D165N NM_178034 NP_828848 Q86XP0 PA24D_HUMAN Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA. 165 phospholipid catabolic process cytoplasmic vesicle membrane|cytosol metal ion binding|phospholipase A2 activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245) OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06) AGATGCACATCCAGGCATGAC 0.607000 121 50 0 0 0.014410 0 0 C12orf63 374467 broad.mit.edu 37 12 97136274 97136274 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr12:97136274G>A uc021rcc.1 + 18 2482 c.2404G>A c.(2404-2406)Gaa>Aaa p.E802K Q6ZTY8 CL063_HUMAN RecName: Full=Putative uncharacterized protein C12orf63; 802 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 AAATGCCCGAGAATATTTCAA 0.353000 28 12 0 0 0.010729 0 0 KLHL4 56062 broad.mit.edu 37 X 86868978 86868978 + Missense_Mutation SNP A G G TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chrX:86868978A>G uc004efa.2 + 1 703 c.521A>G c.(520-522)aAc>aGc p.N174S KLHL4_uc004efb.2_Missense_Mutation_p.N174S NM_057162 NP_476503 Q9C0H6 KLHL4_HUMAN Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA. 174 cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 AAAATGGAGAACTACTTGAAA 0.403000 7 22 0 0 0.012319 0 0 HBD 3045 broad.mit.edu 37 11 5255394 5255394 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:5255394C>T uc001maf.1 - 1 337 c.142G>A c.(142-144)Gat>Aat p.D48N NM_000519 NP_000510 P02042 HBD_HUMAN Homo sapiens hemoglobin, delta (HBD), mRNA. 48 D -> V (in Parkville; dbSNP:rs34977235). blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 16 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAGGACAGATCCCCAAAGGAC 0.522000 35 31 0 0 0.021022 0 0 HLA-G 3135 broad.mit.edu 37 6 29795861 29795861 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr6:29795861C>T uc003nnw.2 + 2 289 c.111C>T c.(109-111)tcC>tcT p.S37S HLA-G_uc021ytw.1_Non-coding_Transcript|HLA-G_uc011dmb.2_Silent_p.S9S|HLA-G_uc003raj.3_Silent_p.S42S|HLA-G_uc003nnz.3_Silent_p.S37S|HLA-G_uc010jrn.2_Silent_p.S37S|HLA-G_uc003nny.3_Non-coding_Transcript|HLA-G_uc021ytv.1_Silent_p.S37S|HLA-G_uc003ran.1_5'Flank NM_002127 NP_002118 P17693 HLAG_HUMAN Homo sapiens major histocompatibility complex, class I, G (HLA-G), mRNA. 37 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway MHC class I protein complex|integral to membrane MHC class I receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1) 21 CCGCCGTGTCCCGGCCCGGCC 0.716000 19 6 0 0 0.029380 0 0 DST 667 broad.mit.edu 37 6 56513381 56513381 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr6:56513381G>A uc021zay.1 - 9 1154 c.1028C>T c.(1027-1029)cCt>cTt p.P343L DST_uc011dxl.1_Missense_Mutation_p.P332L|DST_uc021zaz.1_Missense_Mutation_p.P303L|DST_uc003pde.2_Missense_Mutation_p.P419L NM_001723 NP_001714 Q03001 DYST_HUMAN Homo sapiens dystonin (DST), transcript variant 1e, mRNA. 303 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CAGTTCTACAGGATTATTAGG 0.338000 9 8 0 0 0.004482 0 0 FGFR2 2263 broad.mit.edu 37 10 123274775 123274775 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr10:123274775G>A uc021pzz.1 - 8 1790 c.1143C>T c.(1141-1143)taC>taT p.Y381Y FGFR2_uc021pzv.1_Silent_p.Y269Y|FGFR2_uc021pzw.1_Silent_p.Y266Y|FGFR2_uc021pzx.1_Silent_p.Y292Y|FGFR2_uc021pzy.1_Silent_p.Y382Y|FGFR2_uc010qtl.2_Intron|FGFR2_uc010qtm.2_Silent_p.Y266Y|FGFR2_uc021qaa.1_Silent_p.Y382Y|FGFR2_uc021qab.1_Silent_p.Y293Y|FGFR2_uc021qac.1_Silent_p.Y312Y|FGFR2_uc001lfn.4_Non-coding_Transcript|FGFR2_uc001lfg.4_5'UTR NM_000141 NP_000132 P21802 FGFR2_HUMAN Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA. 381 angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding p.I380V(1) breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2) 181 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) CCCCTATGCAGTAAATGGCTA 0.512000 5 Mis """gastric. NSCLC, endometrial""" """Crouzon, Pfeiffer, and Apert syndromes""" Saethre-Chotzen syndrome;Apert syndrome 73 33 0 0 0.023175 0 0 ADCY1 107 broad.mit.edu 37 7 45743040 45743040 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:45743040C>T uc003tne.4 + 14 2538 c.2520C>T c.(2518-2520)ctC>ctT p.L840L NM_021116 NP_066939 Q08828 ADCY1_HUMAN Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA. 840 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) TCTTCAACCTCCTGCCGGCCC 0.607000 83 22 0 0 0.012319 0 0 CCDC153 283152 broad.mit.edu 37 11 119061485 119061485 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:119061485G>A uc010rze.2 - 5 628 c.414C>T c.(412-414)gaC>gaT p.D138D NM_001145018 NP_001138490 Q494R4 CC153_HUMAN Homo sapiens coiled-coil domain containing 153 (CCDC153), mRNA. 138 lung(3)|stomach(1) 4 CCAGGGCCTGGTCCCGCTCTC 0.617000 35 40 0 0 0.023175 0 0 DSG1 1828 broad.mit.edu 37 18 28934899 28934899 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr18:28934899C>T uc002kwp.3 + 14 2952 c.2740C>T c.(2740-2742)Cct>Tct p.P914S DSG1_uc010xbp.2_Missense_Mutation_p.P273S NM_001942 NP_001933 Q02413 DSG1_HUMAN Homo sapiens desmoglein 1 (DSG1), mRNA. 914 calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) TATCCATCATCCTAGAGAGTC 0.468000 123 61 0 0 0.014410 0 0 C10orf71 118461 broad.mit.edu 37 10 50532253 50532253 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr10:50532253G>A uc021pqb.1 + 0 1663 c.1663G>A c.(1663-1665)Gag>Aag p.E555K C10orf71_uc021pqa.1_Missense_Mutation_p.E554K|C10orf71_uc021pqc.1_Missense_Mutation_p.E555K NM_001135196 NP_001128668 Q711Q0 CJ071_HUMAN Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA. 555 endometrium(1) 1 CCCTCCAAATGAGCTTTCTAA 0.522000 38 14 0 0 0.024245 0 0 GATA2 2624 broad.mit.edu 37 3 128199922 128199922 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:128199922G>A uc003ekm.3 - 6 1818 c.1383C>T c.(1381-1383)ccC>ccT p.P461P GATA2_uc003ekn.3_Silent_p.P447P|GATA2_uc003eko.2_Silent_p.P461P NM_001145661 NP_116027 P23769 GATA2_HUMAN Homo sapiens GATA binding protein 2 (GATA2), transcript variant 1, mRNA. 461 blood coagulation|negative regulation of Notch signaling pathway|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter nucleoplasm C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding p.H460P(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1) 79 GBM - Glioblastoma multiforme(114;0.173) GGCTGGAGGAGGGGTGGATGG 0.682000 Mis AML(CML blast transformation) 33 18 0 0 0.033300 0 0 ZNF777 27153 broad.mit.edu 37 7 149152452 149152452 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:149152452G>A uc003wfv.3 - 1 825 c.662C>T c.(661-663)gCc>gTc p.A221V NM_015694 NP_056509 Q9ULD5 ZN777_HUMAN Homo sapiens zinc finger protein 777 (ZNF777), mRNA. 221 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1) 26 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) CTCGCAGTCGGCTATCTTCTT 0.612000 75 88 0 0 0.014410 0 0 ZNF683 257101 broad.mit.edu 37 1 26691531 26691531 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:26691531G>A uc001bmg.1 - 3 624 c.506C>T c.(505-507)cCc>cTc p.P169L ZNF683_uc001bmh.1_Missense_Mutation_p.P169L|ZNF683_uc009vsj.1_Missense_Mutation_p.P169L NM_173574 NP_775845 Q8IZ20 ZN683_HUMAN Homo sapiens zinc finger protein 683 (ZNF683), transcript variant 2, mRNA. 169 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 15 all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233) GAAAGCCAAGGGGCTGGGGCT 0.602000 21 7 0 0 0.003080 0 0 DOPEY1 23033 broad.mit.edu 37 6 83850123 83850123 + Splice_Site SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr6:83850123G>A uc011dyy.2 + 23 5648 c.5388_splice c.e23+1 p.K1796_splice DOPEY1_uc003pjs.1_Splice_Site_p.K1805_splice|DOPEY1_uc010kbl.1_Splice_Site_p.K1796_splice|DOPEY1_uc003pjt.3_Splice_Site NM_001199942 NP_001186871 Q5JWR5 DOP1_HUMAN Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA. 1805 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) AGCTACAAAGGTTAGACAATT 0.378000 61 22 0 0 0.014323 0 0 MYO10 4651 broad.mit.edu 37 5 16764485 16764485 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:16764485G>A uc003jft.4 - 11 1668 c.1200C>T c.(1198-1200)tcC>tcT p.S400S MYO10_uc010itx.3_Silent_p.S23S NM_012334 NP_036466 Q9HD67 MYO10_HUMAN Homo sapiens myosin X (MYO10), mRNA. 400 Myosin head-like. axon guidance|signal transduction myosin complex ATP binding|actin binding|motor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 CCATGGCCAGGGAGTCCCTGC 0.552000 50 13 0 0 0.013537 0 0 MMP13 4322 broad.mit.edu 37 11 102819836 102819836 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:102819836C>T uc001phl.3 - 6 998 c.969G>A c.(967-969)acG>acA p.T323T NM_002427 NP_002418 P45452 MMP13_HUMAN Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA. 323 Hemopexin-like 1. collagen catabolic process|proteolysis extracellular space metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1) 27 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0144) AAAATGATTTCGTTAAAAACA 0.423000 31 15 0 0 0.020292 0 0 PCDHB4 56131 broad.mit.edu 37 5 140502848 140502848 + Missense_Mutation SNP C A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:140502848C>A uc003lip.1 + 0 1268 c.1268C>A c.(1267-1269)aCt>aAt p.T423N NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN Homo sapiens protocadherin beta 4 (PCDHB4), mRNA. 423 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding p.V422I(1) autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ATCGCCGTCACTGACTTGGGG 0.517000 62 7 5.18039e-06 5.28869e-06 0.003080 1 0 CERS3 204219 broad.mit.edu 37 15 100943031 100943031 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr15:100943031C>T uc002bwa.3 - 13 1643 c.1072G>A c.(1072-1074)Gag>Aag p.E358K CERS3_uc002bvz.3_Missense_Mutation_p.E347K|CERS3_uc002bwb.3_Missense_Mutation_p.E347K NM_178842 NP_849164 Q8IU89 CERS3_HUMAN Homo sapiens ceramide synthase 3 (CERS3), mRNA. 347 endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity tcctcttcctcttcATAATCC 0.468000 13 5 0 0 0.014758 0 0 ZNF12 7559 broad.mit.edu 37 7 6731942 6731942 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:6731942G>A uc003sqt.1 - 4 1185 c.631C>T c.(631-633)Cgt>Tgt p.R211C ZNF12_uc011jxa.1_Missense_Mutation_p.R49C|ZNF12_uc003sqs.1_Missense_Mutation_p.R173C NM_016265 NP_057349 P17014 ZNF12_HUMAN Homo sapiens zinc finger protein 12 (ZNF12), transcript variant 1, mRNA. 211 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3) 16 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.0231) TCCAAAATACGAATTTTCTGA 0.328000 32 10 0 0 0.008291 0 0 OVCH2 341277 broad.mit.edu 37 11 7722018 7722018 + Silent SNP A T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:7722018A>T uc010rbf.2 - 6 726 c.726T>A c.(724-726)ggT>ggA p.G242G NM_198185 NP_937828 Homo sapiens ovochymase 2 (gene/pseudogene) (OVCH2), mRNA. cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2) 15 Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197) ACATGAGTGAACCTCCTGAAT 0.517000 6 3 0 0 0.004672 0 0 MUC17 140453 broad.mit.edu 37 7 100696355 100696355 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:100696355G>A uc003uxp.1 + 9 13245 c.13192G>A c.(13192-13194)Ggg>Agg p.G4398R MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 4398 extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.G4398G(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CGTGGGGGCAGGGGTCGTGCT 0.592000 34 35 0 0 0.019004 0 0 SSPO 23145 broad.mit.edu 37 7 149526051 149526051 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:149526051G>A uc010lpk.3 + 105 15081 c.15081G>A c.(15079-15081)ggG>ggA p.G5027G SSPO_uc003wgh.2_Non-coding_Transcript NM_198455 NP_940857 A2VEC9 SSPO_HUMAN Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA. 5035 VWFC 3. cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TGGAGCCAGGGAGCTGCTGTC 0.657000 15 13 0 0 0.024245 0 0 FAM131C 348487 broad.mit.edu 37 1 16390059 16390059 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:16390059G>A uc001axz.4 - 1 285 c.95C>T c.(94-96)tCg>tTg p.S32L NM_182623 NP_872429 Q96AQ9 F131C_HUMAN Homo sapiens family with sequence similarity 131, member C (FAM131C), mRNA. 32 large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 8 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649) AGTGCGGCCCGAGGGCAGATC 0.617000 58 21 0 0 0.012319 0 0 OR6C65 403282 broad.mit.edu 37 12 55795184 55795184 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr12:55795184G>A uc010spl.2 + 0 872 c.872G>A c.(871-873)aGa>aAa p.R291K NM_001005518 NP_001005518 A6NJZ3 O6C65_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 65 (OR6C65), mRNA. 291 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R291K(2) cervix(1)|endometrium(2)|large_intestine(3)|lung(9) 15 TATACCTTAAGAAACCAGCAG 0.358000 36 12 0 0 0.020292 0 0 PTTG2 10744 broad.mit.edu 37 4 37962316 37962316 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr4:37962316C>T uc011bye.2 + 0 261 c.261C>T c.(259-261)agC>agT p.S87S TBC1D1_uc003gtb.3_Intron|TBC1D1_uc011byd.2_Intron|TBC1D1_uc010ifd.3_Intron NM_006607 NP_006598 Q9NZH5 PTTG2_HUMAN Homo sapiens pituitary tumor-transforming 2 (PTTG2), mRNA. 87 DNA metabolic process|chromosome organization cytoplasm|nucleus SH3 domain binding breast(1)|endometrium(1)|lung(4)|skin(1) 7 AACAGCCAAGCTTTTCTGCCA 0.418000 36 19 0 0 0.007413 0 0 OR10K1 391109 broad.mit.edu 37 1 158436236 158436236 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:158436236G>A uc010pij.2 + 0 885 c.885G>A c.(883-885)aaG>aaA p.K295K NM_001004473 NP_001004473 Q8NGX5 O10K1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA. 295 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 27 all_hematologic(112;0.0378) TGAGAAATAAGGAATTCAAAT 0.378000 48 17 0 0 0.006122 0 0 HYDIN 54768 broad.mit.edu 37 GL000192.1 160082 160082 + RNA SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chrGL000192.1:160082C>T uc010yih.1 - 11 c.2340G>A Q4G0P3 HYDIN_HUMAN Homo sapiens mRNA for KIAA1864 protein, partial cds. breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) gctcccgctccgcctcctccc 0.706000 2 3 0 0 0.004672 0 0 VWF 7450 broad.mit.edu 37 12 6103063 6103064 + Missense_Mutation DNP CC TG TG TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr12:6103063_6103064CC>TG uc001qnn.1 - 36 6812_6813 c.6562_6563GG>CA c.(6562-6564)ggg>CAg p.G2188Q VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN Homo sapiens von Willebrand factor (VWF), mRNA. 2188 blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) AACGCAGACCCCGTTGGTCCGA 0.559000 65 13 0 0 0.004672 0 0 CYP2E1 1571 broad.mit.edu 37 10 135345634 135345634 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr10:135345634C>T uc001lnj.1 + 3 527 c.494C>T c.(493-495)cCt>cTt p.P165L CYP2E1_uc001lnk.1_Missense_Mutation_p.P28L|CYP2E1_uc009ybl.1_5'UTR|CYP2E1_uc009ybm.1_Intron|CYP2E1_uc001lnl.1_5'UTR NM_000773 NP_000764 P05181 CP2E1_HUMAN Homo sapiens cytochrome P450, family 2, subfamily E, polypeptide 1 (CYP2E1), mRNA. 165 drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124) GTAGGCCAGCCTTTCGACCCC 0.557000 Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of 71 25 0 0 0.034045 0 0 LARP1 23367 broad.mit.edu 37 5 154173503 154173503 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:154173503C>T uc003lvo.3 + 5 805 c.781C>T c.(781-783)Cgt>Tgt p.R261C LARP1_uc021ygh.1_Missense_Mutation_p.R133C|LARP1_uc021ygi.1_Missense_Mutation_p.R338C|LARP1_uc010jie.1_Missense_Mutation_p.R133C NM_015315 NP_056130 Q6PKG0 LARP1_HUMAN Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA. 338 RNA binding|protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GGCTTCCTTCCGTGGCCGTGG 0.682000 57 5 0 0 0.014758 0 0 CFTR 1080 broad.mit.edu 37 7 117230474 117230474 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:117230474G>A uc003vjd.3 + 12 1879 c.1747G>A c.(1747-1749)Gaa>Aaa p.E583K CFTR_uc011knq.2_5'UTR NM_000492 NP_000483 P13569 CFTR_HUMAN Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA. 583 ABC transporter 1. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) TGTTTTAACAGAAAAAGAAAT 0.284000 Cystic Fibrosis 101 22 0 0 0.018920 0 0 ROS1 6098 broad.mit.edu 37 6 117686903 117686903 + Splice_Site SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr6:117686903C>T uc003pxp.1 - 19 3012 c.2813_splice c.e19-1 p.G938_splice ROS1_uc011ebi.1_Splice_Site|ROS1_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA. 938 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) AGGAAAAGTTCCCTACAGGAT 0.318000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 10 5 0 0 0.014758 0 0 RIOK1 83732 broad.mit.edu 37 6 7403078 7403078 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr6:7403078C>T uc003mxn.3 + 7 889 c.715C>T c.(715-717)Cct>Tct p.P239S RIOK1_uc003mxm.1_Missense_Mutation_p.P135S|RIOK1_uc003mxo.3_5'UTR NM_031480 NP_694550 Q9BRS2 RIOK1_HUMAN Homo sapiens RIO kinase 1 (yeast) (RIOK1), transcript variant 1, mRNA. 239 Protein kinase. ATP binding|protein serine/threonine kinase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(93;0.0418) TAAAGGAAACCCTAGGAAAAT 0.323000 20 8 0 0 0.004482 0 0 CCPG1 9236 broad.mit.edu 37 15 55652855 55652855 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr15:55652855C>T uc010bfk.2 - 7 1415 c.1116G>A c.(1114-1116)agG>agA p.R372R CCPG1_uc002acy.3_Silent_p.R372R|CCPG1_uc002acu.2_Silent_p.R228R|CCPG1_uc002acz.2_Silent_p.R372R|CCPG1_uc002acw.2_Silent_p.R97R|CCPG1_uc002acx.3_Intron|CCPG1_uc002acv.2_Silent_p.R372R|CCPG1_uc021smu.1_5'Flank NM_001204450 NP_001191379 Q9ULG6 CCPG1_HUMAN Homo sapiens cell cycle progression 1 (CCPG1), transcript variant 3, mRNA. 372 cell cycle integral to membrane autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3) 30 all cancers(107;0.0354) ACAGAGTCTCCCTTTGACTAA 0.398000 69 25 0 0 0.018920 0 0 WBSCR17 64409 broad.mit.edu 37 7 70880955 70880955 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:70880955G>A uc003tvy.3 + 3 670 c.670G>A c.(670-672)Gaa>Aaa p.E224K WBSCR17_uc003tvz.3_5'UTR NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA. 224 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) TCAGAAGAGGGAAGGCCTGAT 0.562000 78 20 0 0 0.014323 0 0 PLCL2 23228 broad.mit.edu 37 3 17053049 17053049 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:17053049C>T uc011awc.2 + 2 2283 c.2187C>T c.(2185-2187)gtC>gtT p.V729V PLCL2_uc011awd.2_Silent_p.V611V NM_001144382 NP_001137854 Q9UPR0 PLCL2_HUMAN Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA. 737 PI-PLC Y-box. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 GGGAGGAGGTCTCCTTCTTCA 0.502000 52 17 0 0 0.008871 0 0 FCRL1 115350 broad.mit.edu 37 1 157771850 157771850 + Silent SNP G A A rs143378896 TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:157771850G>A uc001frg.3 - 4 854 c.741C>T c.(739-741)atC>atT p.I247I FCRL1_uc001frf.3_Non-coding_Transcript|FCRL1_uc001frh.3_Silent_p.I247I|FCRL1_uc001fri.3_Silent_p.I247I|FCRL1_uc001frj.3_Non-coding_Transcript NM_052938 NP_443170 Q96LA6 FCRL1_HUMAN Homo sapiens Fc receptor-like 1 (FCRL1), transcript variant 1, mRNA. 247 Ig-like C2-type 3. integral to membrane|plasma membrane receptor activity p.I247I(6) breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6) 42 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) TCCCCAGGGTGATATCCTCGT 0.577000 54 21 0 0 0.010504 0 0 C7 730 broad.mit.edu 37 5 40958182 40958182 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:40958182G>A uc003jmh.3 + 10 1422 c.1308G>A c.(1306-1308)gtG>gtA p.V436V C7_uc011cpn.1_Non-coding_Transcript NM_000587 NP_000578 P10643 CO7_HUMAN Homo sapiens complement component 7 (C7), mRNA. 436 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) GTGCCTCTGTGAAAAAACTAT 0.408000 17 15 0 0 0.024245 0 0 TMEM8C 389827 broad.mit.edu 37 9 136384048 136384048 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr9:136384048C>T uc011mdk.2 - 2 449 c.347G>A c.(346-348)gGg>gAg p.G116E NM_001080483 NP_001073952 A6NI61 TMM8C_HUMAN Homo sapiens transmembrane protein 8C (TMEM8C), mRNA. 116 integral to membrane NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4) 8 CGAGTACACCCCGTAGCCCCA 0.617000 61 25 0 0 0.021523 0 0 PHLDB2 90102 broad.mit.edu 37 3 111603144 111603144 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:111603144C>T uc010hqa.3 + 1 631 c.220C>T c.(220-222)Cct>Tct p.P74S PHLDB2_uc003dyc.3_Missense_Mutation_p.P101S|PHLDB2_uc003dyd.3_Missense_Mutation_p.P74S|PHLDB2_uc003dyg.3_Missense_Mutation_p.P74S|PHLDB2_uc003dyh.3_Missense_Mutation_p.P74S|PHLDB2_uc003dye.4_Missense_Mutation_p.P74S|PHLDB2_uc003dyf.4_Missense_Mutation_p.P74S NM_001134438 NP_001127911 Q86SQ0 PHLB2_HUMAN Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA. 74 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 AAGCCCTTCTCCTTTGGGAAC 0.443000 154 69 0 0 0.014410 0 0 KCNK1 3775 broad.mit.edu 37 1 233807105 233807105 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:233807105C>T uc010pxo.1 + 2 1008 c.840C>T c.(838-840)ttC>ttT p.F280F NM_002245 NP_002236 O00180 KCNK1_HUMAN Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA. 280 voltage-gated potassium channel complex inward rectifier potassium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 11 all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175) Ibutilide(DB00308)|Quinidine(DB00908) GAAAAATGTTCTATGTGAAGA 0.458000 41 15 0 0 0.020292 0 0 FAR2 55711 broad.mit.edu 37 12 29460611 29460611 + Missense_Mutation SNP T G G TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr12:29460611T>G uc001rit.3 + 4 834 c.566T>G c.(565-567)aTt>aGt p.I189S FAR2_uc001ris.4_Missense_Mutation_p.I189S|FAR2_uc009zjm.3_Missense_Mutation_p.I92S|AX746523_uc001riu.1_Intron NM_018099 NP_060569 Q96K12 FACR2_HUMAN Homo sapiens fatty acyl CoA reductase 2 (FAR2), mRNA. 189 ether lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1) 29 GATGCTATTATTGACGAGATT 0.403000 73 27 0 0 0.010818 0 0 MYO15A 51168 broad.mit.edu 37 17 18046115 18046115 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:18046115C>T uc021trm.1 + 23 6090 c.5871C>T c.(5869-5871)tcC>tcT p.S1957S MYO15A_uc021trl.1_Silent_p.S1955S NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN Homo sapiens myosin XVA (MYO15A), mRNA. 1957 IQ 3.|Neck or regulatory domain. sensory perception of sound cytoplasm|myosin complex|stereocilium ATP binding|actin binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) AGTTCCGGTCCCTGGTACACG 0.597000 7 3 0 0 0.014758 0 0 TNK1 8711 broad.mit.edu 37 17 7292014 7292014 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:7292014G>A uc002ggi.4 + 10 2014 c.1782G>A c.(1780-1782)aaG>aaA p.K594K TNK1_uc002ggj.4_Silent_p.K589K|TNK1_uc010cmf.3_Non-coding_Transcript NM_001251902 NP_001238831 Q13470 TNK1_HUMAN Homo sapiens tyrosine kinase, non-receptor, 1 (TNK1), transcript variant 1, mRNA. 594 protein autophosphorylation membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1) 16 Prostate(122;0.157) TGCAGAGGAAGATTATGGAGG 0.577000 28 13 0 0 0.020292 0 0 CYC1 1537 broad.mit.edu 37 8 145151057 145151058 + Missense_Mutation DNP GG AA AA TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr8:145151057_145151058GG>AA uc003zaz.4 + 2 400_401 c.357_358GG>AA c.(355-360)caggtg>caAAtg p.V120M CYC1_uc003zay.3_Missense_Mutation_p.V61M NM_001916 NP_001907 P08574 CY1_HUMAN Homo sapiens cytochrome c-1 (CYC1), nuclear gene encoding mitochondrial protein, mRNA. 120 Cytochrome c. respiratory electron transport chain|transport cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2) 15 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TATATAAGCAGGTGTGCGCCTC 0.599000 OREG0019052 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 173 151 0 0 0.004672 0 0 DCAF11 80344 broad.mit.edu 37 14 24586912 24586912 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr14:24586912C>T uc001wlv.3 + 4 727 c.447C>T c.(445-447)tcC>tcT p.S149S NRL_uc001wlq.3_5'Flank|DCAF11_uc001wlw.3_Silent_p.S149S|DCAF11_uc001wlz.3_Intron|DCAF11_uc001wly.3_Silent_p.S105S|DCAF11_uc010tny.2_Silent_p.S16S|DCAF11_uc001wmc.3_Intron|DCAF11_uc001wmb.4_Silent_p.S123S|DCAF11_uc001wma.4_Silent_p.S149S NM_001163484 NP_079506 Q8TEB1 DCA11_HUMAN Homo sapiens DDB1 and CUL4 associated factor 11 (DCAF11), transcript variant 3, mRNA. 149 CUL4 RING ubiquitin ligase complex protein binding p.S149S(1) GAAGCTTCTCCCTTGGAGAAC 0.498000 64 42 0 0 0.011902 0 0 ZNF749 388567 broad.mit.edu 37 19 57956710 57956710 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:57956710G>A uc002qoq.2 + 2 2448 c.2194G>A c.(2194-2196)Gac>Aac p.D732N NM_001023561 NP_001018855 O43361 ZN749_HUMAN Homo sapiens zinc finger protein 749 (ZNF749), mRNA. 732 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1) 13 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177) ATGTGGGAAAGACTTCAACAA 0.393000 74 31 0 0 0.013726 0 0 PGLS 25796 broad.mit.edu 37 19 17628557 17628557 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:17628557G>A uc002ngw.3 + 3 587 c.537G>A c.(535-537)ccG>ccA p.P179P NM_012088 NP_036220 O95336 6PGL_HUMAN Homo sapiens 6-phosphogluconolactonase (PGLS), mRNA. 179 cytosol 6-phosphogluconolactonase activity endometrium(1)|lung(1) 2 GTGACTCCCCGAAGCCACCGC 0.562000 60 22 0 0 0.014323 0 0 ROBO2 6092 broad.mit.edu 37 3 77656973 77656973 + Missense_Mutation SNP A T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:77656973A>T uc011bgk.2 + 21 3816 c.3173A>T c.(3172-3174)aAa>aTa p.K1058I ROBO2_uc021xat.1_Missense_Mutation_p.K1070I|ROBO2_uc003dpy.4_Missense_Mutation_p.K1054I|ROBO2_uc003dpz.3_Missense_Mutation_p.K1058I|ROBO2_uc011bgj.2_Non-coding_Transcript|ROBO2_uc003dqa.3_Missense_Mutation_p.K181I NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA. 1054 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) AAAAAGAAGAAAAATAAAAAC 0.433000 35 11 0 0 0.010729 0 0 TUBA1B 10376 broad.mit.edu 37 12 49521861 49521861 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr12:49521861C>T uc001rtm.3 - 3 1457 c.1236G>A c.(1234-1236)ggG>ggA p.G412G TUBA1B_uc021qxn.1_Silent_p.G210G|TUBA1B_uc001rtl.3_Silent_p.G377G|TUBA1A_uc010smg.1_5'UTR NM_006082 NP_006073 P68363 TBA1B_HUMAN Homo sapiens tubulin, alpha 1b (TUBA1B), mRNA. 412 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4) 12 CTTCCTCCATCCCCTCACCCA 0.552000 98 44 0 0 0.014410 0 0 PAX3 5077 broad.mit.edu 37 2 223161825 223161826 + Missense_Mutation DNP GG AA AA TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr2:223161825_223161826GG>AA uc010fwo.3 - 1 573_574 c.192_193CC>TT c.(190-195)caccac>caTTac p.H65Y PAX3_uc002vmt.2_Missense_Mutation_p.H65Y|PAX3_uc002vmy.2_Missense_Mutation_p.H65Y|PAX3_uc002vmv.2_Missense_Mutation_p.H65Y|PAX3_uc002vmw.2_Missense_Mutation_p.H65Y|PAX3_uc002vmx.2_Missense_Mutation_p.H65Y|PAX3_uc002vmz.2_Missense_Mutation_p.H65Y|PAX3_uc002vna.2_Missense_Mutation_p.H65Y|CCDC140_uc002vnb.1_5'Flank NM_181457 NP_852122 P23760 PAX3_HUMAN Homo sapiens paired box 3 (PAX3), transcript variant PAX3, mRNA. 65 Paired. Missing (in WS1). apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.H65H(1) PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749) NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 38 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CGGATGCCGTGGTGGGCCATCT 0.658000 T """FOXO1A, NCOA1""" alveolar rhabdomyosarcoma Waardenburg syndrome; craniofacial-deafness-hand syndrome 15 5 0 0 0.004672 0 0 CYP4A11 1579 broad.mit.edu 37 1 47395968 47395968 + Missense_Mutation SNP T A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:47395968T>A uc001cqp.4 - 11 1430 c.1379A>T c.(1378-1380)aAa>aTa p.K460I NM_000778 NP_000769 Q02928 CP4AB_HUMAN Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA. 460 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) GGCAAATTGTTTCCCGATGCA 0.582000 88 31 0 0 0.010818 0 0 MMP26 56547 broad.mit.edu 37 11 5010899 5010899 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:5010899C>T uc001lzv.3 + 1 139 c.121C>T c.(121-123)Ctg>Ttg p.L41L NM_021801 NP_068573 Q9NRE1 MMP26_HUMAN Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA. 41 collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1) 22 Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227) Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191) TCAATTTTTCCTGACCAAGAA 0.463000 11 9 0 0 0.008291 0 0 TSIX 9383 broad.mit.edu 37 X 73046482 73046482 + RNA SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chrX:73046482C>T uc004ebn.2 + 0 c.34443C>T XIST_uc004ebm.1_Non-coding_Transcript Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA. TTAGGGTTCTCATCTTGGGAT 0.428000 40 55 0 0 0.014410 0 0 LRP1 4035 broad.mit.edu 37 12 57577163 57577163 + Splice_Site SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr12:57577163C>T uc001snd.3 + 35 6129 c.5663_splice c.e35-1 p.G1888_splice NM_002332 NP_002323 Q07954 LRP1_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA. 1888 aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GTCTTTCAGGCGTAGGTTCCT 0.507000 OREG0021938 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 64 24 0 0 0.030593 0 0 LRP1B 53353 broad.mit.edu 37 2 141460005 141460005 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr2:141460005G>A uc002tvj.1 - 37 7113 c.6141C>T c.(6139-6141)atC>atT p.I2047I NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 2047 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CCTCATAGTCGATGGAGATGC 0.398000 TSP Lung(27;0.18) 46 16 0 0 0.033300 0 0 TTN 7273 broad.mit.edu 37 2 179404146 179404146 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr2:179404146C>T uc021vsy.1 - 300 91167 c.90942G>A c.(90940-90942)ttG>ttA p.L30314L MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.L24009L|TTN_uc021vta.1_Silent_p.L23942L|TTN_uc021vtb.1_Silent_p.L23817L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 31241 Fibronectin type-III 121. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCTCAGATTTCAAGGGTTTGC 0.388000 26 22 0 0 0.014323 0 0 COX18 285521 broad.mit.edu 37 4 73923972 73923972 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr4:73923972G>A uc011cbc.1 - 5 970 c.864C>T c.(862-864)ttC>ttT p.F288F COX18_uc003hgm.1_Silent_p.F287F|COX18_uc003hgn.1_Silent_p.F136F|COX18_uc010iih.1_Silent_p.F287F NM_173827 NP_776188 Q8N8Q8 COX18_HUMAN Homo sapiens COX18 cytochrome c oxidase assembly homolog (S. cerevisiae) (COX18), nuclear gene encoding mitochondrial protein, mRNA. 287 protein insertion into mitochondrial membrane|respiratory chain complex IV assembly integral to mitochondrial inner membrane protein transporter activity p.F287F(2) large_intestine(4)|lung(2) 6 Breast(15;0.00096) Epithelial(6;1.26e-06)|OV - Ovarian serous cystadenocarcinoma(6;9.45e-06)|all cancers(17;2.05e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) AAAGGCCCACGAAGCTGGAGC 0.408000 23 12 0 0 0.016723 0 0 TNXB 7148 broad.mit.edu 37 6 32049920 32049920 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr6:32049920C>T uc003nzl.2 - 8 3831 c.3629G>A c.(3628-3630)cGt>cAt p.R1210H NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 1297 Fibronectin type-III 4. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 AACAAATGAACGCTCGGGCCC 0.577000 503 8 0 0 0.003080 0 0 LRRC30 339291 broad.mit.edu 37 18 7231816 7231816 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr18:7231816C>T uc010wzk.2 + 0 680 c.680C>T c.(679-681)tCg>tTg p.S227L NM_001105581 NP_001099051 A6NM36 LRC30_HUMAN Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA. 227 central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 TTCCCGAGGTCGCTTTGCCTG 0.577000 51 24 0 0 0.018920 0 0 TMEM89 440955 broad.mit.edu 37 3 48658389 48658389 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:48658389G>A uc011bbo.2 - 1 366 c.366C>T c.(364-366)ctC>ctT p.L122L NM_001008269 NP_001008270 A2RUT3 TMM89_HUMAN Homo sapiens transmembrane protein 89 (TMEM89), mRNA. 122 integral to membrane breast(1)|lung(1)|stomach(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) GGACCCCACGGAGCAGGGTGT 0.612000 64 35 0 0 0.013726 0 0 PRSS1 5644 broad.mit.edu 37 7 142460305 142460305 + Missense_Mutation SNP T C C TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:142460305T>C uc003wak.2 + 3 495 c.478T>C c.(478-480)Tgc>Cgc p.C160R TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc003wam.2_Missense_Mutation_p.C100R NM_002769 NP_002760 P07477 TRY1_HUMAN Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA. 160 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) CGAGCTGCAGTGCCTGGATGC 0.522000 472 12 0 0 0.020292 0 0 AKAP1 8165 broad.mit.edu 37 17 55183373 55183373 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:55183373C>T uc010wnl.2 + 2 830 c.548C>T c.(547-549)cCc>cTc p.P183L AKAP1_uc002iux.3_Missense_Mutation_p.P183L|AKAP1_uc021uak.1_Missense_Mutation_p.P183L|AKAP1_uc010dcm.3_Missense_Mutation_p.P183L|AKAP1_uc002iuy.3_Non-coding_Transcript NM_001242902 NP_001229831 Q92667 AKAP1_HUMAN Homo sapiens A kinase (PRKA) anchor protein 1 (AKAP1), transcript variant 2, mRNA. 183 blood coagulation cytosol|integral to membrane|mitochondrial outer membrane RNA binding|protein binding endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1) 14 Breast(9;5.46e-08) CCAGGCTACCCCGTAGTCCCC 0.577000 50 27 0 0 0.021523 0 0 BRCA2 675 broad.mit.edu 37 13 32907279 32907279 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr13:32907279C>T uc001uub.1 + 9 1891 c.1664C>T c.(1663-1665)cCa>cTa p.P555L BRCA2_uc001uua.1_Missense_Mutation_p.P432L NM_000059 NP_000050 P51587 BRCA2_HUMAN Homo sapiens breast cancer 2, early onset (BRCA2), mRNA. 555 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding p.C554F(1) NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TCCTTATGTCCAAATTTAATT 0.378000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 34 26 0 0 0.027356 0 0 ELMO3 79767 broad.mit.edu 37 16 67233464 67233464 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr16:67233464C>T uc002esa.3 + 1 289 c.246C>T c.(244-246)ccC>ccT p.P82P ELMO3_uc002esb.3_Silent_p.P82P|ELMO3_uc002esc.3_5'UTR NM_024712 NP_078988 Q96BJ8 ELMO3_HUMAN Homo sapiens engulfment and cell motility 3 (ELMO3), mRNA. 29 apoptosis|phagocytosis cytoplasm|cytoskeleton SH3 domain binding cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 18 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417) AGGCGAAGCCCCTGGCCGCTG 0.761000 33 15 0 0 0.006122 0 0 ABCA13 154664 broad.mit.edu 37 7 48392067 48392067 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:48392067C>T uc003toq.2 + 30 10695 c.10671C>T c.(10669-10671)ccC>ccT p.P3557P ABCA13_uc010kys.1_Silent_p.P631P|ABCA13_uc003tos.1_Silent_p.P383P NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA. 3557 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 CCCCTTACCCCTGCCATACCA 0.557000 16 4 0 0 0.009096 0 0 NLRP1 22861 broad.mit.edu 37 17 5456793 5456793 + Missense_Mutation SNP T C C TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:5456793T>C uc002gci.3 - 4 2996 c.2441A>G c.(2440-2442)gAc>gGc p.D814G NLRP1_uc002gcg.1_Missense_Mutation_p.D814G|NLRP1_uc002gch.4_Missense_Mutation_p.D814G|NLRP1_uc002gck.3_Missense_Mutation_p.D814G|NLRP1_uc002gcj.3_Missense_Mutation_p.D814G|NLRP1_uc002gcl.3_Missense_Mutation_p.D814G|NLRP1_uc010clh.3_Missense_Mutation_p.D814G NM_033004 NP_127497 Q9C000 NALP1_HUMAN Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA. 814 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide NALP1 inflammasome complex|cytoplasm|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) TCCACTTAGGTCCAGCTCCTT 0.567000 33 21 0 0 0.008871 0 0 CA10 56934 broad.mit.edu 37 17 49825170 49825170 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:49825170C>T uc002itv.4 - 4 1042 c.306G>A c.(304-306)ggG>ggA p.G102G CA10_uc002itw.4_Silent_p.G96G|CA10_uc002itx.4_Silent_p.G96G|CA10_uc002ity.4_Silent_p.G96G|CA10_uc002itz.2_Silent_p.G96G NM_020178 NP_064563 Q9NS85 CAH10_HUMAN Homo sapiens carbonic anhydrase X (CA10), transcript variant 2, mRNA. 96 brain development cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) TGTACATGGTCCCACTGACCT 0.537000 48 19 0 0 0.012319 0 0 AMBRA1 55626 broad.mit.edu 37 11 46465037 46465038 + Splice_Site DNP CC TT TT TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:46465037_46465038CC>TT uc001ncv.2 - 14 2955 c.2641_splice c.e14+1 p.A881_splice AMBRA1_uc010rgt.1_Splice_Site_p.A444_splice|AMBRA1_uc009ylc.1_Splice_Site_p.A849_splice|AMBRA1_uc001ncu.1_Splice_Site_p.A788_splice|AMBRA1_uc010rgu.1_Splice_Site_p.A878_splice|AMBRA1_uc001ncw.2_Splice_Site_p.A759_splice|AMBRA1_uc001ncx.2_Splice_Site_p.A818_splice NM_017749 NP_060219 Q9C0C7 AMRA1_HUMAN Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA. 878 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 39 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) CATTGACTTACCATTACTGATT 0.460000 15 6 0 0 0.004672 0 0 CALCB 797 broad.mit.edu 37 11 15098931 15098931 + Silent SNP C T T rs145827382 byFrequency TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:15098931C>T uc001mlx.1 + 3 397 c.324C>T c.(322-324)ttC>ttT p.F108F CALCB_uc009ygr.1_Silent_p.F108F NM_000728 NP_000719 P10092 CALCB_HUMAN Homo sapiens calcitonin-related polypeptide beta (CALCB), mRNA. 108 cellular calcium ion homeostasis|signal transduction|vasodilation extracellular region|soluble fraction neuropeptide hormone activity p.F108F(2) endometrium(1)|large_intestine(1)|lung(1)|skin(2) 5 AGAGCAACTTCGTGCCCACCA 0.577000 29 13 0 0 0.016723 0 0 OR5K3 403277 broad.mit.edu 37 3 98110431 98110431 + Missense_Mutation SNP T A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:98110431T>A uc011bgw.2 + 0 922 c.922T>A c.(922-924)Ttt>Att p.F308I NM_001005516 NP_001005516 A6NET4 OR5K3_HUMAN Homo sapiens olfactory receptor, family 5, subfamily K, member 3 (OR5K3), mRNA. 308 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1) 27 GAAGAGAAAATTTTGTCACAT 0.269000 34 18 0 0 0.012319 0 0 MGC70870 403340 broad.mit.edu 37 GL000205.1 117331 117331 + RNA SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chrGL000205.1:117331G>A uc002kgk.4 + 0 c.709G>A Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA. TGCCCATCCTGAAGGACCTGG 0.572000 60 4 0 0 0.009096 0 0 MOGAT3 346606 broad.mit.edu 37 7 100839468 100839468 + Splice_Site SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:100839468C>T uc003uyc.3 - 6 1038 c.871_splice c.e6+1 p.V291_splice MOGAT3_uc010lhr.3_Intron NM_178176 NP_835470 Q86VF5 MOGT3_HUMAN Homo sapiens monoacylglycerol O-acyltransferase 3 (MOGAT3), mRNA. 291 glycerol metabolic process|lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3) 22 Lung NSC(181;0.168)|all_lung(186;0.215) GGGCACTCACCCACAGTGGTG 0.667000 9 4 0 0 0.009096 0 0 ANK3 288 broad.mit.edu 37 10 61830627 61830627 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr10:61830627C>T uc001jky.3 - 36 10350 c.10012G>A c.(10012-10014)Gaa>Aaa p.E3338K ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 3338 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TCGTCCACTTCCTTTAATTTG 0.403000 81 38 0 0 0.021022 0 0 FNDC7 163479 broad.mit.edu 37 1 109270661 109270661 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:109270661C>T uc001dvx.3 + 6 1343 c.1343C>T c.(1342-1344)tCa>tTa p.S448L FNDC7_uc010ova.2_Missense_Mutation_p.S215L NM_001144937 NP_001138409 Q5VTL7 FNDC7_HUMAN Homo sapiens fibronectin type III domain containing 7 (FNDC7), mRNA. 449 Fibronectin type-III 5. extracellular region breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1) 20 all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244) AGCAATATGTCATGTACTCCC 0.483000 69 50 0 0 0.014410 0 0 TNRC6C 57690 broad.mit.edu 37 17 76083169 76083169 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:76083169C>T uc002jud.2 + 13 4397 c.3797C>T c.(3796-3798)cCt>cTt p.P1266L TNRC6C_uc002juf.2_Missense_Mutation_p.P1263L NM_018996 NP_061869 Q9HCJ0 TNR6C_HUMAN Homo sapiens trinucleotide repeat containing 6C (TNRC6C), transcript variant 2, mRNA. 1266 gene silencing by RNA|regulation of translation RNA binding|nucleotide binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) GCTCCTTACCCTCTCGGTGAG 0.577000 104 49 0 0 0.014410 0 0 NLRP13 126204 broad.mit.edu 37 19 56424075 56424075 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:56424075C>T uc010ygg.2 - 4 1133 c.1108G>A c.(1108-1110)Gat>Aat p.D370N NM_176810 NP_789780 Q86W25 NAL13_HUMAN Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA. 370 NACHT. ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) GCCTTAAGATCTCTCACAAAC 0.453000 75 22 0 0 0.018920 0 0 LRP1B 53353 broad.mit.edu 37 2 141607771 141607771 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr2:141607771G>A uc002tvj.1 - 28 5811 c.4839C>T c.(4837-4839)ttC>ttT p.F1613F LRP1B_uc010fnl.1_Silent_p.F795F NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 1613 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.D1612D(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CAGATGCATCGAAGTCTATCA 0.373000 TSP Lung(27;0.18) 48 12 0 0 0.010729 0 0 NUP107 57122 broad.mit.edu 37 12 69109417 69109417 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr12:69109417C>T uc001suf.3 + 11 1095 c.980C>T c.(979-981)gCt>gTt p.A327V NUP107_uc001sug.3_Missense_Mutation_p.A174V|NUP107_uc010stj.2_Missense_Mutation_p.A298V NM_020401 NP_065134 P57740 NU107_HUMAN Homo sapiens nucleoporin 107kDa (NUP107), mRNA. 327 carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction Nup107-160 complex|condensed chromosome kinetochore|cytosol nucleocytoplasmic transporter activity|protein binding NUP107/LGR5(2) breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2) 39 Breast(13;6.25e-06) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) GACCCTGATGCTCCCATAAGA 0.358000 72 36 0 0 0.021022 0 0 PRR23B 389151 broad.mit.edu 37 3 138739226 138739227 + Missense_Mutation DNP CC TT TT TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:138739226_138739227CC>TT uc003esy.1 - 0 542_543 c.277_278GG>AA c.(277-279)ggt>AAt p.G93N NM_001013650 NP_001013672 Q6ZRT6 PR23B_HUMAN Homo sapiens proline rich 23B (PRR23B), mRNA. 93 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GGTGTGTCCACCGAGAGACACT 0.658000 52 20 0 0 0.004672 0 0 BC063132 0 broad.mit.edu 37 GL000241.1 24643 24643 + RNA SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chrGL000241.1:24643G>A uc011mgv.2 - 4 c.570C>T Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors. AGCTCACCTGGAATCAGATAA 0.303000 32 4 0 0 0.009096 0 0 ZBTB38 253461 broad.mit.edu 37 3 141164718 141164718 + Missense_Mutation SNP A T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:141164718A>T uc010hup.3 + 1 3538 c.3491A>T c.(3490-3492)cAc>cTc p.H1164L ZBTB38_uc003etw.3_Missense_Mutation_p.H1163L|ZBTB38_uc010hun.3_Missense_Mutation_p.H1160L|ZBTB38_uc010huo.3_Missense_Mutation_p.H1163L|ZBTB38_uc003ety.3_Missense_Mutation_p.H1163L|ZBTB38_uc021xes.1_Missense_Mutation_p.H1163L NM_001080412 NP_001073881 Q8NAP3 ZBT38_HUMAN Homo sapiens zinc finger and BTB domain containing 38 (ZBTB38), mRNA. 1163 positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 41 GACGTGTGCCACGAAAACTCA 0.418000 125 54 0 0 0.014410 0 0 LLGL2 3993 broad.mit.edu 37 17 73569281 73569281 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:73569281C>T uc002joh.3 + 19 2801 c.2647C>T c.(2647-2649)Ccc>Tcc p.P883S LLGL2_uc002joi.3_Missense_Mutation_p.P883S|LLGL2_uc010dgg.2_Missense_Mutation_p.P883S|LLGL2_uc002joj.3_Missense_Mutation_p.P872S|LLGL2_uc010wsd.2_Missense_Mutation_p.P510S NM_001031803 NP_001026973 Q6P1M3 L2GL2_HUMAN Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA. 883 cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) CCTGCTCAAGCCCCAGGTGCG 0.647000 78 19 0 0 0.008871 0 0 ATP13A1 57130 broad.mit.edu 37 19 19767573 19767573 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:19767573G>A uc002nnh.4 - 6 1007 c.979C>T c.(979-981)Cgc>Tgc p.R327C ATP13A1_uc002nnf.4_5'Flank|ATP13A1_uc002nng.3_Missense_Mutation_p.R209C NM_020410 NP_065143 Q9HD20 AT131_HUMAN Homo sapiens ATPase type 13A1 (ATP13A1), mRNA. 327 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 TGTGGGGAGCGGCCTGCAGGG 0.672000 27 8 0 0 0.006214 0 0 MYO10 4651 broad.mit.edu 37 5 16701681 16701681 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:16701681G>A uc003jft.4 - 24 3291 c.2823C>T c.(2821-2823)ttC>ttT p.F941F MYO10_uc011cnc.2_5'Flank|MYO10_uc011cnd.2_Silent_p.F298F|MYO10_uc011cne.2_Silent_p.F298F|MYO10_uc010itx.3_Silent_p.F564F NM_012334 NP_036466 Q9HD67 MYO10_HUMAN Homo sapiens myosin X (MYO10), mRNA. 941 axon guidance|signal transduction myosin complex ATP binding|actin binding|motor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 GGGACTCGAGGAACTCCTGGG 0.637000 22 8 0 0 0.008291 0 0 OR6C70 390327 broad.mit.edu 37 12 55863781 55863781 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr12:55863781G>A uc010spn.2 - 0 142 c.142C>T c.(142-144)Ctg>Ttg p.L48L NM_001005499 NP_001005499 A6NIJ9 O6C70_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 70 (OR6C70), mRNA. 48 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 18 GAATCCAGCAGAATGAGGGCA 0.373000 37 15 0 0 0.020292 0 0 DCN 1634 broad.mit.edu 37 12 91558410 91558410 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr12:91558410C>T uc001tbt.3 - 2 550 c.296G>A c.(295-297)gGa>gAa p.G99E DCN_uc001tbo.3_Intron|DCN_uc001tbp.3_Intron|DCN_uc001tbq.3_Missense_Mutation_p.G99E|DCN_uc001tbr.3_Intron|DCN_uc001tbu.3_Missense_Mutation_p.G99E NM_133503 NP_598010 P07585 PGS2_HUMAN Homo sapiens decorin (DCN), transcript variant A2, mRNA. 99 organ morphogenesis extracellular space central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1) 20 CTTAAAGTCTCCATCTTTGAT 0.363000 27 14 0 0 0.020292 0 0 SLC44A2 57153 broad.mit.edu 37 19 10736962 10736962 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:10736962G>A uc002mpf.3 + 1 210 c.71G>A c.(70-72)gGa>gAa p.G24E SLC44A2_uc002mpe.4_Missense_Mutation_p.G22E NM_020428 NP_065161 Q8IWA5 CTL2_HUMAN Homo sapiens solute carrier family 44, member 2 (SLC44A2), transcript variant 1, mRNA. 24 positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane|plasma membrane choline transmembrane transporter activity|signal transducer activity NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Epithelial(33;8.7e-06)|all cancers(31;2.77e-05) Choline(DB00122) ACTTTCAAAGGACCCATTTAC 0.507000 109 31 0 0 0.021022 0 0 MGAT3 4248 broad.mit.edu 37 22 39884916 39884917 + Missense_Mutation DNP CC TT TT TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr22:39884916_39884917CC>TT uc003axv.4 + 1 1803_1804 c.1564_1565CC>TT c.(1564-1566)ccg>TTg p.P522L MGAT3_uc010gxy.3_Missense_Mutation_p.P522L NM_002409 NP_002400 Q09327 MGAT3_HUMAN Homo sapiens mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase (MGAT3), transcript variant 1, mRNA. 522 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1) 24 Melanoma(58;0.04) CGAGGGAAGGCCGCCCGCCCGG 0.678000 6 6 0 0 0.004672 0 0 WNK1 65125 broad.mit.edu 37 12 968444 968444 + Silent SNP C T T rs61736906 TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr12:968444C>T uc021qss.1 + 5 2077 c.1434C>T c.(1432-1434)ttC>ttT p.F478F WNK1_uc001qio.4_Silent_p.F478F|WNK1_uc021qst.1_Silent_p.F478F|WNK1_uc001qip.4_Silent_p.F478F|WNK1_uc001qir.4_5'Flank NM_001184985 NP_001171914 Q9H4A3 WNK1_HUMAN Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA. 478 Protein kinase. intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) ACCATGCCTTCTTCCAAGAGG 0.323000 54 12 0 0 0.013537 0 0 TTN 7273 broad.mit.edu 37 2 179568878 179568878 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr2:179568878G>A uc021vsy.1 - 102 26712 c.26487C>T c.(26485-26487)atC>atT p.I8829I TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.I5490I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 9756 Ig-like 71. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACGCACCTTCGATTCTGAGTT 0.468000 136 14 0 0 0.028581 0 0 SIRT6 51548 broad.mit.edu 37 19 4174812 4174812 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:4174812G>A uc002lzo.3 - 7 930 c.870C>T c.(868-870)ccC>ccT p.P290P SIRT6_uc002lzq.3_Silent_p.P263P|SIRT6_uc002lzp.3_3'UTR|SIRT6_uc010xid.2_Silent_p.P218P|SIRT6_uc002lzr.3_Silent_p.P191P NM_016539 NP_057623 Q8N6T7 SIRT6_HUMAN Homo sapiens sirtuin 6 (SIRT6), transcript variant 1, mRNA. 290 Pro-rich. chromatin silencing|protein ADP-ribosylation nuclear telomeric heterochromatin|nucleoplasm NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|protein binding|zinc ion binding central_nervous_system(1)|kidney(1)|lung(4)|ovary(1)|skin(1) 8 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.023)|STAD - Stomach adenocarcinoma(1328;0.18) TGGGCGGGCGGGGCAGGGGTG 0.706000 3 4 0 0 0.014758 0 0 TTC17 55761 broad.mit.edu 37 11 43513659 43513659 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:43513659C>T uc001mxi.3 + 22 3310 c.3240C>T c.(3238-3240)atC>atT p.I1080I TTC17_uc010rfj.2_Silent_p.I1080I|TTC17_uc001mxl.3_Silent_p.I136I NM_018259 NP_060729 Q96AE7 TTC17_HUMAN Homo sapiens tetratricopeptide repeat domain 17 (TTC17), mRNA. 1080 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3) 53 CAGTAGAGATCGCACCACACT 0.522000 63 46 0 0 0.011902 0 0 STAU2 27067 broad.mit.edu 37 8 74464404 74464404 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr8:74464404G>A uc003xzm.3 - 12 1714 c.1373C>T c.(1372-1374)tCg>tTg p.S458L STAU2_uc011lfh.2_Missense_Mutation_p.S354L|STAU2_uc003xzn.3_Missense_Mutation_p.S426L|STAU2_uc011lfg.2_Missense_Mutation_p.S286L|STAU2_uc003xzo.3_Missense_Mutation_p.S458L|STAU2_uc003xzq.3_Missense_Mutation_p.S238L|STAU2_uc003xzp.3_Missense_Mutation_p.S426L|STAU2_uc011lfi.2_Missense_Mutation_p.S420L|STAU2_uc010lzk.3_Missense_Mutation_p.S426L|STAU2_uc010lzl.1_Missense_Mutation_p.S286L NM_001164380 NP_001157855 Q9NUL3 STAU2_HUMAN Homo sapiens staufen, RNA binding protein, homolog 2 (Drosophila) (STAU2), transcript variant 1, mRNA. 458 Required for dendritic transport (By similarity). transport endoplasmic reticulum|microtubule|nucleolus double-stranded RNA binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1) 19 Breast(64;0.0138) Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972) TGAACTATTCGATGTGGGAGA 0.443000 124 42 0 0 0.010771 0 0 ARAP1 116985 broad.mit.edu 37 11 72408489 72408489 + Silent SNP A G G TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:72408489A>G uc001osu.3 - 20 3021 c.2832T>C c.(2830-2832)ggT>ggC p.G944G ARAP1_uc001osv.3_Silent_p.G944G|ARAP1_uc001osr.3_Silent_p.G704G|ARAP1_uc001oss.3_Silent_p.G699G|ARAP1_uc009yth.3_Silent_p.G638G|ARAP1_uc010rre.2_Silent_p.G699G NM_001040118 NP_056057 Q96P48 ARAP1_HUMAN Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA. 944 actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction Golgi cisterna membrane|cytosol|plasma membrane ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 CCCCCAGCCAACCCATGAAGT 0.642000 154 122 0 0 0.014410 0 0 HTR3B 9177 broad.mit.edu 37 11 113803741 113803741 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:113803741G>A uc001pok.3 + 5 760 c.622G>A c.(622-624)Gaa>Aaa p.E208K HTR3B_uc001pol.3_Missense_Mutation_p.E197K NM_006028 NP_006019 O95264 5HT3B_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3B (HTR3B), mRNA. 208 synaptic transmission integral to plasma membrane|postsynaptic membrane serotonin receptor activity|serotonin-activated cation-selective channel activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11) 20 all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151) CAGTGAGTGGGAACTTCTATC 0.473000 23 13 0 0 0.013537 0 0 CSMD2 114784 broad.mit.edu 37 1 34174706 34174706 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:34174706C>T uc001bxm.1 - 21 3736 c.3559G>A c.(3559-3561)Gaa>Aaa p.E1187K CSMD2_uc001bxn.1_Missense_Mutation_p.E1147K|CSMD2_uc001bxo.1_Missense_Mutation_p.E60K NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 1147 CUB 7. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) ACATCTCCTTCGGAGAGTTCG 0.428000 67 35 0 0 0.030466 0 0 TP63 8626 broad.mit.edu 37 3 189587118 189587118 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:189587118C>T uc003fry.2 + 8 1224 c.1135C>T c.(1135-1137)Cgt>Tgt p.R379C TP63_uc003frx.2_Missense_Mutation_p.R379C|TP63_uc003frz.2_Missense_Mutation_p.R379C|TP63_uc010hzc.1_Missense_Mutation_p.R379C|TP63_uc003fsa.2_Missense_Mutation_p.R285C|TP63_uc003fsb.2_Missense_Mutation_p.R285C|TP63_uc003fsc.2_Missense_Mutation_p.R285C|TP63_uc003fsd.2_Missense_Mutation_p.R285C|TP63_uc021xir.1_Missense_Mutation_p.R285C|TP63_uc010hzd.1_Missense_Mutation_p.R200C|TP63_uc003fse.1_Missense_Mutation_p.R256C NM_003722 NP_003713 Q9H3D4 P63_HUMAN Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA. 379 Interaction with HIPK2. 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|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.R379C(2) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) ACCAGCGTTTCGTCAGAACAC 0.363000 HNSCC(45;0.13) 29 13 0 0 0.024245 0 0 OR1L6 392390 broad.mit.edu 37 9 125512178 125512178 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr9:125512178C>T uc022bna.1 + 0 52 c.52C>T c.(52-54)Ctc>Ttc p.L18F NM_001004453 NP_001004453 Q8NGR2 OR1L6_HUMAN Homo sapiens olfactory receptor, family 1, subfamily L, member 6 (OR1L6), mRNA. 54 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1) 12 CCTCCTGGGCCTCTCTTCCAA 0.532000 137 59 0 0 0.014410 0 0 COL1A1 1277 broad.mit.edu 37 17 48272431 48272431 + Missense_Mutation SNP C G G TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:48272431C>G uc002iqm.3 - 19 1456 c.1330G>C c.(1330-1332)Gac>Cac p.D444H NM_000088 NP_000079 P02452 CO1A1_HUMAN Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA. 444 Triple-helical region. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) GCACCAGTGTCTCCTTTGCTG 0.622000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 73 46 0 0 0.014410 0 0 GSG1L 146395 broad.mit.edu 37 16 27856321 27856321 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr16:27856321G>A uc002doz.2 - 3 697 c.612C>T c.(610-612)ctC>ctT p.L204L GSG1L_uc010bya.1_Silent_p.L153L|GSG1L_uc010bxz.1_Silent_p.L49L|GSG1L_uc002doy.2_Silent_p.L49L NM_001109763 NP_653276 Q6UXU4 GSG1L_HUMAN Homo sapiens GSG1-like (GSG1L), transcript variant 1, mRNA. 204 integral to membrane endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4) 17 CCTCAGGACCGAGGCTCACGG 0.602000 20 9 0 0 0.004482 0 0 PRR5-ARHGAP8 553158 broad.mit.edu 37 22 45255633 45255633 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr22:45255633C>T uc003bfd.3 + 15 1807 c.1530C>T c.(1528-1530)gtC>gtT p.V510V PRR5-ARHGAP8_uc011aqi.2_Silent_p.V422V|PRR5-ARHGAP8_uc011aqj.2_Silent_p.V353V|PRR5-ARHGAP8_uc010gzv.3_Intron|PRR5-ARHGAP8_uc003bfj.3_Silent_p.V331V|PRR5-ARHGAP8_uc003bfk.3_Silent_p.V300V|PRR5-ARHGAP8_uc003bfl.3_Non-coding_Transcript NM_181335 NP_851852 Homo sapiens Rho GTPase activating protein 8 (ARHGAP8), transcript variant 2, mRNA. breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8) 30 GCCTGCGTGTCACTGGCTGCC 0.667000 30 32 0 0 0.017118 0 0 ADAM23 8745 broad.mit.edu 37 2 207482325 207482325 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr2:207482325G>A uc002vbq.3 + 25 2696 c.2473G>A c.(2473-2475)Gat>Aat p.D825N ADAM23_uc010ziv.2_Non-coding_Transcript NM_003812 NP_003803 O75077 ADA23_HUMAN Homo sapiens ADAM metallopeptidase domain 23 (ADAM23), mRNA. 825 cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding p.F824F(1) NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 51 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) GAGAAGGTTCGATCCTACTCA 0.473000 19 13 0 0 0.020292 0 0 PRPH2 5961 broad.mit.edu 37 6 42690018 42690018 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr6:42690018C>T uc003osk.3 - 0 341 c.55G>A c.(55-57)Ggg>Agg p.G19R NM_000322 NP_000313 P23942 PRPH2_HUMAN Homo sapiens peripherin 2 (retinal degeneration, slow) (PRPH2), mRNA. 19 cell adhesion|visual perception integral to membrane p.Q18H(1) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 18 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904) AGCCAGAGCCCTTGGGCCAAC 0.532000 65 25 0 0 0.027356 0 0 CDK13 8621 broad.mit.edu 37 7 40085609 40085609 + Missense_Mutation SNP T A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:40085609T>A uc003thh.4 + 5 2810 c.2528T>A c.(2527-2529)aTc>aAc p.I843N CDK13_uc003thi.4_Missense_Mutation_p.I843N|CDK13_uc011kbf.2_Missense_Mutation_p.I229N NM_003718 NP_003709 Q14004 CDK13_HUMAN Homo sapiens cyclin-dependent kinase 13 (CDK13), transcript variant 1, mRNA. 843 Protein kinase. alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding p.I843F(1) cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1) 49 TGTTCCAATATCCTTCTAAAT 0.328000 108 19 0 0 0.010504 0 0 DOCK2 1794 broad.mit.edu 37 5 169474612 169474612 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:169474612C>T uc003maf.3 + 39 4145 c.4065C>T c.(4063-4065)ttC>ttT p.F1355F DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Silent_p.F847F NM_004946 NP_004937 Q92608 DOCK2_HUMAN Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA. 1355 DHR-2.|Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCCCCTCCTTCCTGCGGGTGA 0.537000 31 18 0 0 0.033300 0 0 RECQL5 9400 broad.mit.edu 37 17 73627090 73627090 + Splice_Site SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:73627090C>T uc010dgl.3 - 11 1758 c.1549_splice c.e11-1 p.G517_splice RECQL5_uc010dgk.3_Splice_Site_p.G490_splice|RECQL5_uc002jot.4_5'Flank|C17orf109_uc002jow.2_5'Flank NM_004259 NP_004250 O94762 RECQ5_HUMAN Homo sapiens RecQ protein-like 5 (RECQL5), transcript variant 1, mRNA. 517 DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 36 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) GGGTCTTTGCCCTGGAGGACA 0.592000 Other identified genes with known or suspected DNA repair function 39 14 0 0 0.024245 0 0 KIAA1274 27143 broad.mit.edu 37 10 72298062 72298062 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr10:72298062C>T uc001jrd.4 + 11 1631 c.1350C>T c.(1348-1350)ttC>ttT p.F450F KIAA1274_uc001jre.4_5'Flank NM_014431 NP_055246 Q9ULE6 PALD_HUMAN Homo sapiens KIAA1274 (KIAA1274), mRNA. 450 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(21)|ovary(2)|prostate(4)|urinary_tract(1) 36 CCCTCAGTTTCAGCCGCTGGC 0.672000 47 13 0 0 0.020292 0 0 ADIPOQ 9370 broad.mit.edu 37 3 186570840 186570840 + Splice_Site SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:186570840G>A uc010hyy.3 + 3 128 c.-7_splice c.e3-1 ADIPOQ_uc003fra.3_Splice_Site NM_001177800 NP_004788 Q15848 ADIPO_HUMAN Homo sapiens adiponectin, C1Q and collagen domain containing (ADIPOQ), transcript variant 1, mRNA. brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of blood pressure|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor collagen|endoplasmic reticulum|extracellular space cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2) 16 all_cancers(143;1.2e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.47e-19) GBM - Glioblastoma multiforme(93;0.0776) TGGATTCCAGGGCTCAGGATG 0.572000 51 29 0 0 0.009535 0 0 KCNK10 54207 broad.mit.edu 37 14 88729741 88729741 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr14:88729741C>T uc001xwm.3 - 1 329 c.207G>A c.(205-207)caG>caA p.Q69Q KCNK10_uc001xwn.3_Silent_p.Q69Q|KCNK10_uc001xwo.3_Silent_p.Q64Q NM_138318 NP_612191 P57789 KCNKA_HUMAN Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA. 64 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity p.W69R(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 TCATGACGGTCTGCAAGCCCC 0.607000 48 39 0 0 0.023175 0 0 ABCB10 23456 broad.mit.edu 37 1 229676463 229676463 + Nonsense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:229676463G>A uc001htp.4 - 4 1136 c.1093C>T c.(1093-1095)Cga>Tga p.R365* NM_012089 NP_036221 Q9NRK6 ABCBA_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 10 (ABCB10), nuclear gene encoding mitochondrial protein, mRNA. 365 ABC transmembrane type-1. integral to mitochondrial membrane|mitochondrial inner membrane ATP binding|oligopeptide-transporting ATPase activity breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2) 31 Breast(184;0.143)|Ovarian(103;0.249) Prostate(94;0.167) CCAAAAGCTCGAACAGTTCTT 0.423000 44 27 0 0 0.027356 0 0 ICOSLG 23308 broad.mit.edu 37 21 45655373 45655373 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr21:45655373G>A uc010gpp.1 - 3 613 c.479C>T c.(478-480)tCc>tTc p.S160F ICOSLG_uc002zef.3_Missense_Mutation_p.S43F|ICOSLG_uc002zee.3_Missense_Mutation_p.S160F|ICOSLG_uc011afc.2_Missense_Mutation_p.S70F NM_015259 NP_056074 O75144 ICOSL_HUMAN Homo sapiens inducible T-cell co-stimulator ligand (ICOSLG), mRNA. 160 Ig-like C2-type. B cell activation|T cell activation|T cell costimulation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction receptor binding endometrium(2)|lung(1)|stomach(1)|urinary_tract(1) 5 Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772) GCCGTTTATGGATGTACACGT 0.567000 85 41 0 0 0.033182 0 0 TMEM180 79847 broad.mit.edu 37 10 104231132 104231132 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr10:104231132C>T uc001kvt.3 + 5 1026 c.807C>T c.(805-807)ttC>ttT p.F269F TMEM180_uc001kvs.3_Silent_p.F118F|TMEM180_uc010qql.2_5'UTR|TMEM180_uc010qqm.1_Silent_p.F118F|TMEM180_uc001kvu.3_Silent_p.F269F NM_024789 NP_079065 Q14CX5 TM180_HUMAN Homo sapiens transmembrane protein 180 (TMEM180), mRNA. 269 integral to membrane breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1) 13 Colorectal(252;0.122) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) TCCTGTGGTTCGTGAGCATGG 0.617000 64 27 0 0 0.034045 0 0 C1orf173 127254 broad.mit.edu 37 1 75038358 75038358 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:75038358G>A uc001dgg.3 - 13 3255 c.3036C>T c.(3034-3036)agC>agT p.S1012S NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA. 1012 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 CTTCCTCAGGGCTGCCCTCCG 0.517000 29 22 0 0 0.010504 0 0 MUC16 94025 broad.mit.edu 37 19 9049101 9049101 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:9049101G>A uc002mkp.3 - 4 32734 c.32530C>T c.(32530-32532)Cat>Tat p.H10844Y NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 10846 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GATTTACTATGGAAAAAAATG 0.483000 90 44 0 0 0.014410 0 0 ZNF438 220929 broad.mit.edu 37 10 31139069 31139069 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr10:31139069C>T uc010qdz.2 - 6 700 c.265G>A c.(265-267)Gag>Aag p.E89K ZNF438_uc001ivn.3_Missense_Mutation_p.E40K|ZNF438_uc010qdy.2_Missense_Mutation_p.E79K|ZNF438_uc001ivo.4_Intron|ZNF438_uc009xlg.3_Missense_Mutation_p.E89K|ZNF438_uc001ivp.4_Missense_Mutation_p.E79K|ZNF438_uc010qea.2_Missense_Mutation_p.E89K|ZNF438_uc010qeb.2_Missense_Mutation_p.E89K|ZNF438_uc010qec.1_Intron NM_182755 NP_001137241 Q7Z4V0 ZN438_HUMAN Homo sapiens zinc finger protein 438 (ZNF438), transcript variant 2, mRNA. 89 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(175;0.0587) AATGTCCCCTCCTGGCCAGCA 0.522000 51 43 0 0 0.033182 0 0 MTHFR 4524 broad.mit.edu 37 1 11856335 11856335 + Silent SNP G A A rs34279942 byFrequency TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:11856335G>A uc001atb.1 - 3 975 c.777C>T c.(775-777)ttC>ttT p.F259F MTHFR_uc001atc.2_Silent_p.F236F NM_005957 NP_005948 P42898 MTHR_HUMAN Homo sapiens methylenetetrahydrofolate reductase (NAD(P)H) (MTHFR), mRNA. 236 blood circulation|folic acid metabolic process cytosol methylenetetrahydrofolate reductase (NADPH) activity|protein binding NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116) CAAAGCGGAAGAATGTGTCAG 0.557000 192 69 0 0 0.014410 0 0 ULBP1 80329 broad.mit.edu 37 6 150291158 150291158 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr6:150291158C>T uc003qnp.3 + 3 675 c.632C>T c.(631-633)cCc>cTc p.P211L NM_025218 NP_079494 Q9BZM6 N2DL1_HUMAN Homo sapiens UL16 binding protein 1 (ULBP1), mRNA. 211 antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response MHC class I protein complex|anchored to membrane|endoplasmic reticulum MHC class I receptor activity large_intestine(3)|lung(5)|pancreas(1)|skin(1) 10 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.14e-11) TCAGAACCACCCTCTCTGGCC 0.562000 6 3 0 0 0.004672 0 0 NRXN1 9378 broad.mit.edu 37 2 50280446 50280446 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr2:50280446C>T uc021vhh.1 - 18 4922 c.4001G>A c.(4000-4002)aGa>aAa p.R1334K NRXN1_uc010fbp.3_Missense_Mutation_p.R299K|NRXN1_uc002rxb.4_Missense_Mutation_p.R1036K|NRXN1_uc021vhg.1_Missense_Mutation_p.R1404K|NRXN1_uc021vhi.1_Missense_Mutation_p.R1400K|NRXN1_uc021vhj.1_Missense_Mutation_p.R1330K NM_004801 NP_004792 Q9ULB1 NRX1A_HUMAN Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA. 1334 adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CTTTCCTCTTCTGGCTGTGCT 0.453000 88 37 0 0 0.027894 0 0 SPECC1 92521 broad.mit.edu 37 17 20013850 20013850 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:20013850G>A uc002gwq.3 + 2 368 c.258G>A c.(256-258)acG>acA p.T86T SPECC1_uc010cqx.3_Silent_p.T86T|SPECC1_uc002gwr.3_Silent_p.T86T|SPECC1_uc002gws.3_Silent_p.T86T NM_001243439 NP_001230368 Q5M775 CYTSB_HUMAN Homo sapiens sperm antigen with calponin homology and coiled-coil domains 1 (SPECC1), transcript variant 6, mRNA. 86 nucleus breast(1)|large_intestine(3)|ovary(4) 8 KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196) CGGAGCTCACGGAGAGCCGCC 0.652000 16 11 0 0 0.010729 0 0 RRBP1 6238 broad.mit.edu 37 20 17640672 17640672 + Nonsense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr20:17640672G>A uc002wpw.1 - 1 758 c.481C>T c.(481-483)Cag>Tag p.Q161* RRBP1_uc002wpu.3_5'Flank|RRBP1_uc010gcl.1_Intron|RRBP1_uc002wpv.1_Nonsense_Mutation_p.Q161*|RRBP1_uc021waw.1_Nonsense_Mutation_p.Q161*|RRBP1_uc010zrq.1_Nonsense_Mutation_p.Q161*|RRBP1_uc010zrr.1_Nonsense_Mutation_p.Q161* NM_004587 NP_004578 Q9P2E9 RRBP1_HUMAN Homo sapiens ribosome binding protein 1 homolog 180kDa (dog) (RRBP1), transcript variant 2, mRNA. 591 protein transport|translation|transmembrane transport integral to endoplasmic reticulum membrane|ribosome receptor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6) 28 GTGAGAACCTGGATGGAATTC 0.562000 16 12 0 0 0.016723 0 0 CYP21A2 1589 broad.mit.edu 37 6 32008225 32008226 + Missense_Mutation DNP CC TT TT TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr6:32008225_32008226CC>TT uc003nze.2 + 7 1089_1090 c.982_983CC>TT c.(982-984)cct>TTt p.P328F CYP21A2_uc003nzf.2_Missense_Mutation_p.P298F NM_000500 NP_000491 P08686 CP21A_HUMAN Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2), transcript variant 1, mRNA. 327 glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 11 CGAACTGGGCCCTGGTGCCTCC 0.678000 249 66 0 0 0.004672 0 0 USP31 57478 broad.mit.edu 37 16 23079464 23079464 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr16:23079464G>A uc002dll.3 - 15 3962 c.3962C>T c.(3961-3963)cCc>cTc p.P1321L USP31_uc002dlk.3_Missense_Mutation_p.P593L|USP31_uc010vca.2_Missense_Mutation_p.P624L|USP31_uc010bxm.3_Missense_Mutation_p.P609L NM_020718 NP_065769 Q70CQ4 UBP31_HUMAN Homo sapiens ubiquitin specific peptidase 31 (USP31), mRNA. 1321 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 57 GBM - Glioblastoma multiforme(48;0.0187) CGGAGACGAGGGAACTCCAGA 0.507000 88 34 0 0 0.021022 0 0 RTTN 25914 broad.mit.edu 37 18 67692000 67692000 + Missense_Mutation SNP A G G TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr18:67692000A>G uc002lkp.2 - 43 5976 c.5908T>C c.(5908-5910)Tct>Cct p.S1970P RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_Missense_Mutation_p.S1058P|RTTN_uc010dqp.2_Missense_Mutation_p.S222P NM_173630 NP_775901 Q86VV8 RTTN_HUMAN Homo sapiens rotatin (RTTN), mRNA. 1970 binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) AGCTGCAGAGAAATTTGCATC 0.388000 39 17 0 0 0.007413 0 0 INPP1 3628 broad.mit.edu 37 2 191235953 191235953 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr2:191235953C>T uc002ury.4 + 6 1725 c.1025C>T c.(1024-1026)cCa>cTa p.P342L INPP1_uc010fsb.3_Missense_Mutation_p.P342L|INPP1_uc002urx.4_Missense_Mutation_p.P342L NM_001128928 NP_002185 P49441 INPP_HUMAN Homo sapiens inositol polyphosphate-1-phosphatase (INPP1), transcript variant 1, mRNA. 342 signal transduction inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057) Lithium(DB01356) GAAAGAAATCCAGAAACAGGG 0.498000 68 4 0 0 0.009096 0 0 NMNAT3 349565 broad.mit.edu 37 3 139297868 139297868 + Missense_Mutation SNP A C C TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:139297868A>C uc003etj.3 - 1 179 c.139T>G c.(139-141)Tct>Gct p.S47A NMNAT3_uc010hul.3_Intron|NMNAT3_uc003etk.3_Missense_Mutation_p.S10A|NMNAT3_uc003etl.3_Non-coding_Transcript NM_178177 NP_835471 Q96T66 NMNA3_HUMAN Homo sapiens nicotinamide nucleotide adenylyltransferase 3 (NMNAT3), transcript variant 1, mRNA. 47 water-soluble vitamin metabolic process cytosol|mitochondrion ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(4) 9 TTGACAGGAGAGATGATACCC 0.557000 18 11 0 0 0.013537 0 0 INO80D 54891 broad.mit.edu 37 2 206869273 206869273 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr2:206869273G>A uc002vaz.4 - 10 3308 c.2903C>T c.(2902-2904)cCc>cTc p.P968L NM_017759 NP_060229 Q53TQ3 IN80D_HUMAN Homo sapiens INO80 complex subunit D (INO80D), mRNA. 0 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 26 TTGCTGCTTGGGAGAGGTGGA 0.602000 11 11 0 0 0.016723 0 0 C8B 732 broad.mit.edu 37 1 57417821 57417821 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:57417821G>A uc001cyp.3 - 4 633 c.566C>T c.(565-567)cCa>cTa p.P189L C8B_uc010oon.2_Missense_Mutation_p.P127L|C8B_uc010ooo.2_Missense_Mutation_p.P137L NM_000066 NP_000057 P07358 CO8B_HUMAN Homo sapiens complement component 8, beta polypeptide (C8B), mRNA. 189 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 52 ATCAAGAACTGGGCCCTCAAA 0.468000 106 42 0 0 0.014410 0 0 ZFAND2A 90637 broad.mit.edu 37 7 1195178 1195178 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:1195178G>A uc003skd.4 - 3 494 c.193C>T c.(193-195)Cca>Tca p.P65S ZFAND2A_uc003skc.3_Missense_Mutation_p.P65S|ZFAND2A_uc021zyp.1_Non-coding_Transcript Q8N6M9 ZFN2A_HUMAN Homo sapiens zinc finger, AN1-type domain 2A (ZFAND2A), mRNA. 65 cytoplasm|nucleus zinc ion binding lung(2)|ovary(1) 3 Ovarian(82;0.11) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15) TTTTTTACTGGGATGGGGGTA 0.458000 103 26 0 0 0.021523 0 0 LAMA3 3909 broad.mit.edu 37 18 21404449 21404449 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr18:21404449C>T uc002kuq.3 + 20 2577 c.2491C>T c.(2491-2493)Cct>Tct p.P831S LAMA3_uc002kur.3_Missense_Mutation_p.P831S NM_198129 NP_937762 Q16787 LAMA3_HUMAN Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA. 831 Domain IV 1 (domain IV B). cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGTCACTGTCCCTGGAAATGG 0.433000 95 32 0 0 0.012213 0 0 PRICKLE1 144165 broad.mit.edu 37 12 42854405 42854405 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr12:42854405C>T uc010skv.2 - 7 1989 c.1702G>A c.(1702-1704)Gag>Aag p.E568K PRICKLE1_uc001rnl.3_Missense_Mutation_p.E568K|PRICKLE1_uc010skw.2_Missense_Mutation_p.E568K|PRICKLE1_uc001rnm.3_Missense_Mutation_p.E568K|PRICKLE1_uc001rnk.1_5'Flank NM_001144881 NP_694571 Q96MT3 PRIC1_HUMAN Homo sapiens prickle homolog 1 (Drosophila) (PRICKLE1), transcript variant 2, mRNA. 568 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus cytosol|nuclear membrane zinc ion binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 all_cancers(12;4.25e-05)|Breast(8;0.176) GBM - Glioblastoma multiforme(48;0.2) GTTTCCATCTCCTCAAAATTT 0.433000 63 33 0 0 0.013726 0 0 ODZ1 10178 broad.mit.edu 37 X 123775804 123775804 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chrX:123775804G>A uc010nqy.3 - 10 1978 c.1914C>T c.(1912-1914)atC>atT p.I638I ODZ1_uc011muj.2_Silent_p.I637I|ODZ1_uc004euj.3_Silent_p.I638I NM_001163278 NP_001156750 Q9UKZ4 TEN1_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA. 638 EGF-like 4. immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 212 CTTTTACACAGATGCCATGGT 0.488000 66 93 0 0 0.014410 0 0 EXPH5 23086 broad.mit.edu 37 11 108409813 108409813 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:108409813G>A uc001pkk.3 - 2 492 c.381C>T c.(379-381)tcC>tcT p.S127S EXPH5_uc010rvz.2_5'Flank|EXPH5_uc010rvy.2_5'Flank NM_015065 NP_055880 Q149M6 Q149M6_HUMAN Homo sapiens exophilin 5 (EXPH5), mRNA. 127 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) ATGAGAACAGGGAAGCAAATG 0.408000 50 45 0 0 0.014410 0 0 POLR2I 5438 broad.mit.edu 37 19 36604965 36604965 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:36604965G>A uc002ode.3 - 4 715 c.267C>T c.(265-267)tgC>tgT p.C89C POLR2I_uc002odf.3_Non-coding_Transcript|TBCB_uc002odg.1_5'Flank NM_006233 NP_006224 P36954 RPB9_HUMAN Homo sapiens polymerase (RNA) II (DNA directed) polypeptide I, 14.5kDa (POLR2I), mRNA. 89 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|zinc ion binding kidney(1)|large_intestine(1)|ovary(1) 3 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) CCTTGTGGCCGCACCTGAGAG 0.607000 OREG0025437 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 151 4 0 0 0.021553 0 0 ABCA7 10347 broad.mit.edu 37 19 1054604 1054604 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:1054604C>T uc002lqw.4 + 27 3993 c.3762C>T c.(3760-3762)ctC>ctT p.L1254L ABCA7_uc010dsb.1_Silent_p.L1116L|ABCA7_uc002lqy.3_5'Flank NM_019112 NP_061985 Q8IZY2 ABCA7_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA. 1254 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCCTGGCCCTCGTGTTCAGCC 0.632000 27 28 0 0 0.034045 0 0 ABCC3 8714 broad.mit.edu 37 17 48755254 48755254 + Silent SNP T C C TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:48755254T>C uc002isl.3 + 23 3608 c.3528T>C c.(3526-3528)acT>acC p.T1176T ABCC3_uc002isn.3_5'Flank NM_003786 NP_003777 O15438 MRP3_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA. 1176 ABC transmembrane type-1 2. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) TCAGTGATACTAAGGTGGATG 0.572000 121 76 0 0 0.014410 0 0 IFRD2 7866 broad.mit.edu 37 3 50326110 50326110 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:50326110G>A uc003czb.3 - 12 1554 c.1554C>T c.(1552-1554)ttC>ttT p.F518F IFRD2_uc011bdp.2_Silent_p.F416F NM_006764 NP_006755 Q12894 IFRD2_HUMAN Homo sapiens interferon-related developmental regulator 2 (IFRD2), mRNA. 416 binding breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 14 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) CCTCAAAGCCGAAGCGCACTA 0.607000 19 12 0 0 0.013537 0 0 NCAM2 4685 broad.mit.edu 37 21 22804491 22804491 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr21:22804491C>T uc002yld.2 + 11 1793 c.1544C>T c.(1543-1545)tCc>tTc p.S515F NCAM2_uc011acb.2_Missense_Mutation_p.S373F NM_004540 NP_004531 O15394 NCAM2_HUMAN Homo sapiens neural cell adhesion molecule 2 (NCAM2), mRNA. 515 Fibronectin type-III 1. neuron cell-cell adhesion integral to membrane|plasma membrane breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 108 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) GCCAAGGTTTCCTTCAACAAA 0.453000 33 11 0 0 0.010729 0 0 PCDH15 65217 broad.mit.edu 37 10 55912989 55912989 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr10:55912989G>A uc010qhy.1 - 14 2065 c.1670C>T c.(1669-1671)gCt>gTt p.A557V PCDH15_uc010qhq.2_Missense_Mutation_p.A557V|PCDH15_uc010qhr.2_Missense_Mutation_p.A552V|PCDH15_uc021pqv.1_Missense_Mutation_p.A552V|PCDH15_uc021pqw.1_Missense_Mutation_p.A564V|PCDH15_uc010qht.2_Missense_Mutation_p.A559V|PCDH15_uc021pqx.1_Missense_Mutation_p.A552V|PCDH15_uc001jjv.1_Missense_Mutation_p.A530V|PCDH15_uc021pqy.1_Missense_Mutation_p.A552V|PCDH15_uc021pqz.1_Missense_Mutation_p.A530V|PCDH15_uc010qhv.1_Missense_Mutation_p.A552V|PCDH15_uc010qhw.1_Missense_Mutation_p.A515V|PCDH15_uc010qhx.1_Missense_Mutation_p.A552V|PCDH15_uc010qhz.1_Missense_Mutation_p.A552V|PCDH15_uc010qia.1_Missense_Mutation_p.A530V|PCDH15_uc001jju.1_Missense_Mutation_p.A552V|PCDH15_uc010qib.1_Missense_Mutation_p.A530V|PCDH15_uc001jjw.3_Missense_Mutation_p.A552V NM_001142763 NP_001136235 Q96QU1 PCD15_HUMAN Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA. 552 Cadherin 5. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding p.A557D(2)|p.A552D(1) NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) GTCTCCCTGAGCCCCAACAAG 0.488000 HNSCC(58;0.16) 57 25 0 0 0.024334 0 0 PCDH15 65217 broad.mit.edu 37 10 55780154 55780154 + Missense_Mutation SNP G T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr10:55780154G>T uc010qhy.1 - 20 2959 c.2564C>A c.(2563-2565)gCa>gAa p.A855E PCDH15_uc010qhq.2_Missense_Mutation_p.A855E|PCDH15_uc010qhr.2_Missense_Mutation_p.A850E|PCDH15_uc021pqv.1_Missense_Mutation_p.A850E|PCDH15_uc021pqw.1_Missense_Mutation_p.A862E|PCDH15_uc010qht.2_Missense_Mutation_p.A857E|PCDH15_uc021pqx.1_Missense_Mutation_p.A850E|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.A850E|PCDH15_uc021pqz.1_Missense_Mutation_p.A828E|PCDH15_uc010qhv.1_Missense_Mutation_p.A850E|PCDH15_uc010qhw.1_Missense_Mutation_p.A813E|PCDH15_uc010qhx.1_Missense_Mutation_p.A779E|PCDH15_uc010qhz.1_Missense_Mutation_p.A850E|PCDH15_uc010qia.1_Missense_Mutation_p.A828E|PCDH15_uc001jju.1_Missense_Mutation_p.A850E|PCDH15_uc010qib.1_Missense_Mutation_p.A828E|PCDH15_uc001jjw.3_Missense_Mutation_p.A850E NM_001142763 NP_001136235 Q96QU1 PCD15_HUMAN Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA. 850 Cadherin 8. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding p.R855Q(1) NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) AGACACATTTGCTCCAAGGTC 0.388000 HNSCC(58;0.16) 122 17 0.00400662 0.00407618 0.028581 1 0 GRM3 2913 broad.mit.edu 37 7 86469000 86469000 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:86469000G>A uc003uid.3 + 3 3269 c.2170G>A c.(2170-2172)Gaa>Aaa p.E724K GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Missense_Mutation_p.E596K|GRM3_uc010leh.3_Missense_Mutation_p.E316K NM_000840 NP_000831 Q14832 GRM3_HUMAN Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA. 724 synaptic transmission integral to plasma membrane p.R723W(1) NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) AGAGAAGCGGGAAACAGTCAT 0.498000 35 33 0 0 0.017118 0 0 CDH6 1004 broad.mit.edu 37 5 31316371 31316371 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:31316371G>A uc003jhe.2 + 8 1807 c.1447G>A c.(1447-1449)Gac>Aac p.D483N CDH6_uc003jhd.2_Missense_Mutation_p.D483N NM_004932 NP_004923 P55285 CADH6_HUMAN Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA. 483 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 AGATGTCAATGACAACGCCCC 0.338000 21 11 0 0 0.008291 0 0 HRH2 3274 broad.mit.edu 37 5 175110686 175110686 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:175110686C>T uc003mdc.4 + 1 1094 c.450C>T c.(448-450)tcC>tcT p.S150S HRH2_uc003mdd.2_Silent_p.S150S NM_001131055 NP_001124527 P25021 HRH2_HUMAN Homo sapiens histamine receptor H2 (HRH2), transcript variant 1, mRNA. 150 G-protein signaling, coupled to cyclic nucleotide second messenger|immune response integral to plasma membrane histamine receptor activity breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1) 22 all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149) Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863) TTACCCTGTCCTTTCTGTCTA 0.547000 22 14 0 0 0.020292 0 0 COL13A1 1305 broad.mit.edu 37 10 71690275 71690275 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr10:71690275G>A uc001jql.3 + 28 2153 c.1617G>A c.(1615-1617)ggG>ggA p.G539G COL13A1_uc021prz.1_Silent_p.G517G|COL13A1_uc021psa.1_Silent_p.G482G|COL13A1_uc021psb.1_Silent_p.G488G|COL13A1_uc001jqk.2_Silent_p.G517G|COL13A1_uc021psc.1_Silent_p.G520G|COL13A1_uc021psd.1_Silent_p.G517G|COL13A1_uc010qjf.2_Silent_p.G482G|COL13A1_uc021pse.1_Silent_p.G488G|COL13A1_uc021psf.1_Silent_p.G539G|COL13A1_uc021psg.1_Silent_p.G517G|COL13A1_uc021psh.1_Silent_p.G520G NM_001130103 NP_001123575 Q5TAT6 CODA1_HUMAN Homo sapiens collagen, type XIII, alpha 1 (COL13A1), transcript variant 1, mRNA. 539 Triple-helical region 3 (COL3). cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure collagen type XIII|integral to membrane extracellular matrix structural constituent|heparin binding|protein binding endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 28 Atorvastatin(DB01076)|Simvastatin(DB00641) GAGAGAAGGGGGAAAAAGGGG 0.632000 32 14 0 0 0.020292 0 0 ZNF676 163223 broad.mit.edu 37 19 22363330 22363330 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:22363330C>T uc002nqs.1 - 2 1507 c.1189G>A c.(1189-1191)Gaa>Aaa p.E397K NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN Homo sapiens zinc finger protein 676 (ZNF676), mRNA. 397 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TTGCCACATTCTTCACATTTG 0.418000 49 15 0 0 0.006122 0 0 CLCN5 1184 broad.mit.edu 37 X 49845367 49845367 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chrX:49845367C>T uc004dos.1 + 4 758 c.510C>T c.(508-510)atC>atT p.I170I CLCN5_uc004dor.1_Silent_p.I240I|CLCN5_uc004doq.1_Silent_p.I240I|CLCN5_uc004dot.1_Silent_p.I170I NM_000084 NP_000075 P51795 CLCN5_HUMAN Homo sapiens chloride channel 5 (CLCN5), transcript variant 3, mRNA. 170 excretion Golgi membrane|apical part of cell|endosome membrane|integral to plasma membrane ATP binding|antiporter activity central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1) 30 Ovarian(276;0.236) GCTCTGGAATCCCTGAGGTGA 0.388000 12 29 0 0 0.019004 0 0 OR1M1 125963 broad.mit.edu 37 19 9204508 9204508 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:9204508G>A uc010xkj.2 + 0 588 c.588G>A c.(586-588)agG>agA p.R196R NM_001004456 NP_001004456 Q8NGA1 OR1M1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily M, member 1 (OR1M1), mRNA. 196 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 CTGTGAATAGGATCTTCATCC 0.567000 84 44 0 0 0.010771 0 0 DHTKD1 55526 broad.mit.edu 37 10 12162807 12162808 + Missense_Mutation DNP CC TT TT TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr10:12162807_12162808CC>TT uc001ild.4 + 16 2779_2780 c.2680_2681CC>TT c.(2680-2682)cct>TTt p.P894F NM_018706 NP_061176 Q96HY7 DHTK1_HUMAN Homo sapiens dehydrogenase E1 and transketolase domain containing 1 (DHTKD1), nuclear gene encoding mitochondrial protein, mRNA. 894 glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding p.P894L(2) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1) 44 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) GGGCCGGCCCCCTTTGCCAGTA 0.475000 378 105 0 0 0.004672 0 0 SERPINI2 5276 broad.mit.edu 37 3 167184856 167184856 + Silent SNP T C C TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:167184856T>C uc003fes.1 - 2 566 c.495A>G c.(493-495)gaA>gaG p.E165E SERPINI2_uc003fer.1_Silent_p.E155E|SERPINI2_uc003fet.1_Silent_p.E155E NM_006217 NP_006208 O75830 SPI2_HUMAN Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA. 155 cellular component movement|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1) 41 CTGTTTTTCTTTCTACCCAGG 0.323000 47 9 0 0 0.004482 0 0 TBX5 6910 broad.mit.edu 37 12 114793507 114793507 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr12:114793507G>A uc001tvo.3 - 8 1882 c.1387C>T c.(1387-1389)Cac>Tac p.H463Y TBX5_uc001tvp.3_Missense_Mutation_p.H463Y|TBX5_uc001tvq.3_Missense_Mutation_p.H413Y NM_181486 NP_542448 Q99593 TBX5_HUMAN Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA. 463 cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) ACAGGCTGGTGGGCCACGGAG 0.662000 26 29 0 0 0.009535 0 0 LOC729264 729264 broad.mit.edu 37 16 32265026 32265026 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr16:32265026G>A uc021tgy.1 + 0 377 c.352G>A c.(352-354)Ggg>Agg p.G118R LOC729264_uc002ecy.3_Non-coding_Transcript NM_001243722 NP_001230651 Q9ULZ0 T53G3_HUMAN Homo sapiens TP53-target gene 3 protein-like (LOC729264), mRNA. 118 cytoplasm|nucleus CTCCGCGGCAGGGTTGTCAAG 0.602000 91 21 0 0 0.016522 0 0 RSAD2 91543 broad.mit.edu 37 2 7027287 7027287 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr2:7027287C>T uc002qyp.1 + 2 866 c.730C>T c.(730-732)Cgc>Tgc p.R244C NM_080657 NP_542388 Q8WXG1 RSAD2_HUMAN Homo sapiens radical S-adenosyl methionine domain containing 2 (RSAD2), mRNA. 244 defense response to virus Golgi apparatus|endoplasmic reticulum membrane catalytic activity|iron-sulfur cluster binding|metal ion binding p.R244H(1) endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1) 20 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) OV - Ovarian serous cystadenocarcinoma(76;0.191) AAACCCTGTCCGCTGGAAAGT 0.383000 24 5 0 0 0.029380 0 0 SARS2 54938 broad.mit.edu 37 19 39408363 39408363 + Splice_Site SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:39408363C>T uc010xup.1 - 13 1326 c.1166_splice c.e13+1 p.R389_splice SARS2_uc002ojz.2_Splice_Site_p.R197_splice|SARS2_uc002oka.2_Splice_Site_p.R387_splice|SARS2_uc010xuq.1_Splice_Site_p.R387_splice NM_001145901 NP_001139373 Q9NP81 SYSM_HUMAN Homo sapiens seryl-tRNA synthetase 2, mitochondrial (SARS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 387 seryl-tRNA aminoacylation mitochondrial matrix ATP binding|protein binding|serine-tRNA ligase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 15 all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) CCTCTCCACACCGGAAGTGCA 0.642000 69 22 0 0 0.012319 0 0 MYOM3 127294 broad.mit.edu 37 1 24424459 24424459 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:24424459C>T uc001bin.4 - 6 862 c.699G>A c.(697-699)aaG>aaA p.K233K MYOM3_uc001bim.4_5'Flank|MYOM3_uc001bio.3_Silent_p.K233K|MYOM3_uc001bip.1_5'UTR NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN Homo sapiens myomesin family, member 3 (MYOM3), mRNA. 233 Ig-like C2-type 1. NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) CGTGGGCGTTCTTCACTCGCA 0.587000 200 97 0 0 0.014410 0 0 SOX10 6663 broad.mit.edu 37 22 38370097 38370098 + Missense_Mutation DNP GG AA AA TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr22:38370097_38370098GG>AA uc003aun.1 - 3 1083_1084 c.805_806CC>TT c.(805-807)cct>TTt p.P269F AK098727_uc003aum.3_Intron|SOX10_uc003auo.1_Missense_Mutation_p.P269F NM_006941 NP_008872 P56693 SOX10_HUMAN Homo sapiens SRY (sex determining region Y)-box 10 (SOX10), mRNA. 269 cytoplasm|nucleus DNA binding|identical protein binding|transcription coactivator activity NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2) 20 Melanoma(58;0.045) GTCGATGTGAGGCTTCCCGCCC 0.624000 89 84 0 0 0.004672 0 0 CRTAM 56253 broad.mit.edu 37 11 122738147 122738147 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:122738147G>A uc001pyj.3 + 7 848 c.848G>A c.(847-849)aGa>aAa p.R283K CRTAM_uc001pyk.3_Missense_Mutation_p.R84K NM_019604 NP_062550 O95727 CRTAM_HUMAN Homo sapiens cytotoxic and regulatory T cell molecule (CRTAM), mRNA. 283 cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target integral to membrane|plasma membrane receptor binding breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1) 19 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308) GGACTGGCAAGAAAGAAAAGT 0.388000 24 11 0 0 0.008291 0 0 TRMT5 57570 broad.mit.edu 37 14 61446561 61446561 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr14:61446561G>A uc001xff.4 - 1 146 c.55C>T c.(55-57)Ctg>Ttg p.L19L SLC38A6_uc001xfg.2_5'Flank|SLC38A6_uc001xfh.2_5'Flank|SLC38A6_uc001xfi.3_5'Flank|SLC38A6_uc001xfj.1_5'Flank|SLC38A6_uc001xfk.3_5'Flank|SLC38A6_uc010trz.2_5'Flank NM_020810 NP_065861 Q32P41 TRMT5_HUMAN Homo sapiens TRM5 tRNA methyltransferase 5 homolog (S. cerevisiae) (TRMT5), mRNA. 19 cytoplasm tRNA (guanine-N1-)-methyltransferase activity NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1) 11 OV - Ovarian serous cystadenocarcinoma(108;0.0873) TGGCTTTCCAGTTTCAGAAAT 0.358000 32 28 0 0 0.030593 0 0 RHOH 399 broad.mit.edu 37 4 40245489 40245490 + Missense_Mutation DNP GG AA AA TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr4:40245489_40245490GG>AA uc003guz.2 + 2 1207_1208 c.483_484GG>AA c.(481-486)caggtg>caAAtg p.V162M RHOH_uc021xnp.1_Missense_Mutation_p.V162M NM_004310 NP_004301 Q15669 RHOH_HUMAN Homo sapiens ras homolog gene family, member H (RHOH), mRNA. 162 T cell differentiation|negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction cytosol|mitochondrion|plasma membrane GTP binding|GTPase inhibitor activity|Rho GTPase binding|kinase inhibitor activity kidney(1)|large_intestine(3)|lung(7)|ovary(1) 12 GAGTACAGCAGGTGTTTGAGTG 0.559000 12 11 0 0 0.004672 0 0 POTEF 728378 broad.mit.edu 37 2 130832617 130832617 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr2:130832617G>A uc010fmh.2 - 16 2828 c.2428C>T c.(2428-2430)Ctg>Ttg p.L810L NM_001099771 NP_001093241 A5A3E0 POTEF_HUMAN Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA. 810 Actin-like. cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 TTAGGGTTCAGGGTGGCCTCG 0.587000 143 64 0 0 0.014410 0 0 KCNQ3 3786 broad.mit.edu 37 8 133142162 133142162 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr8:133142162C>T uc003ytj.3 - 14 2191 c.1966G>A c.(1966-1968)Gag>Aag p.E656K KCNQ3_uc003yti.3_Missense_Mutation_p.E536K|KCNQ3_uc010mdt.3_Missense_Mutation_p.E644K NM_004519 NP_004510 O43525 KCNQ3_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA. 656 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity p.E656K(2) NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) GGGTAATACTCCGTGACCTGC 0.498000 74 81 0 0 0.014410 0 0 PIK3R5 23533 broad.mit.edu 37 17 8784242 8784242 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:8784242C>T uc002glt.3 - 17 2542 c.2475G>A c.(2473-2475)aaG>aaA p.K825K PIK3R5_uc010vuz.2_Silent_p.K825K|PIK3R5_uc021tqc.1_Silent_p.K439K|PIK3R5_uc010cob.2_Silent_p.K439K|PIK3R5_uc010coa.2_Silent_p.K439K|PIK3R5_uc002glu.4_Silent_p.K439K NM_014308 NP_001238784 Q8WYR1 PI3R5_HUMAN Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA. 825 platelet activation cytosol|membrane|nucleus breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1) 34 TCTGCAGGATCTTTCTCTCAT 0.567000 49 22 0 0 0.012319 0 0 ACSF2 80221 broad.mit.edu 37 17 48538069 48538069 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:48538069C>T uc010wmm.1 + 2 339 c.235C>T c.(235-237)Ccc>Tcc p.P79S ACSF2_uc002iqu.2_Missense_Mutation_p.P54S|ACSF2_uc010wml.1_Missense_Mutation_p.P54S|ACSF2_uc010wmn.1_Missense_Mutation_p.P54S|ACSF2_uc010wmo.1_Intron NM_025149 NP_079425 Q96CM8 ACSF2_HUMAN Homo sapiens acyl-CoA synthetase family member 2 (ACSF2), mRNA. 54 fatty acid metabolic process mitochondrion ATP binding|ligase activity endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1) 13 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) GGTCTCCACGCCCATCGGAGG 0.577000 21 5 0 0 0.003080 0 0 NRG3 10718 broad.mit.edu 37 10 83635601 83635601 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr10:83635601C>T uc021pvc.1 + 0 532 c.505C>T c.(505-507)Ccc>Tcc p.P169S NRG3_uc010qlz.1_Missense_Mutation_p.P169S|NRG3_uc021pvb.1_Non-coding_Transcript|NRG3_uc001kco.2_Missense_Mutation_p.P169S|NRG3_uc001kcp.2_5'Flank|NRG3_uc001kcq.2_5'Flank|NRG3_uc021pvd.1_5'Flank|NRG3_uc021pve.1_5'Flank|NRG3_uc021pvf.1_5'Flank|NRG3_uc021pvg.1_5'Flank|NRG3_uc021pvh.1_5'Flank|NRG3_uc021pvi.1_5'Flank NM_001010848 NP_001010848 P56975 NRG3_HUMAN Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA. 169 Ser/Thr-rich. regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) CACTCGCTTCCCCGGGCACCG 0.746000 26 14 0 0 0.024245 0 0 TMEM119 338773 broad.mit.edu 37 12 108985508 108985508 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr12:108985508C>T uc001tng.3 - 1 815 c.652G>A c.(652-654)Gaa>Aaa p.E218K TMEM119_uc021rdl.1_Missense_Mutation_p.E218K NM_181724 NP_859075 Q4V9L6 TM119_HUMAN Homo sapiens transmembrane protein 119 (TMEM119), mRNA. 218 integral to membrane large_intestine(2)|lung(3)|ovary(1)|skin(1) 7 CCCTGGACTTCCTGGTCCCCC 0.701000 89 28 0 0 0.030593 0 0 OR52I2 143502 broad.mit.edu 37 11 4608745 4608746 + Missense_Mutation DNP CT TA TA rs137965376 byFrequency TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:4608745_4608746CT>TA uc010qyh.2 + 0 725_726 c.703_704CT>TA c.(703-705)ctt>TAt p.L235Y NM_001005170 NP_001005170 Q8NH67 O52I2_HUMAN Homo sapiens olfactory receptor, family 52, subfamily I, member 2 (OR52I2), mRNA. 235 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1) 19 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) TGGTTCCTCTCTTATGGTGGGC 0.485000 92 73 0 0 0.004672 0 0 PNMA5 114824 broad.mit.edu 37 X 152158843 152158843 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chrX:152158843C>T uc022chn.1 - 0 1300 c.1300G>A c.(1300-1302)Gag>Aag p.E434K PNMA5_uc010ntx.3_Missense_Mutation_p.E434K|PNMA5_uc010ntw.3_Missense_Mutation_p.E434K|PNMA5_uc004fgy.4_Missense_Mutation_p.E434K|PNMA5_uc022chm.1_Missense_Mutation_p.E434K NM_052926 NP_443158 Q96PV4 PNMA5_HUMAN Homo sapiens paraneoplastic antigen like 5 (PNMA5), transcript variant 3, mRNA. 434 apoptosis breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Acute lymphoblastic leukemia(192;6.56e-05) GCCCCTGCCTCGTTTCCCAAC 0.612000 24 50 0 0 0.014410 0 0 GKAP1 80318 broad.mit.edu 37 9 86357495 86357495 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr9:86357495G>A uc004amy.3 - 10 1421 c.925C>T c.(925-927)Ctt>Ttt p.L309F GKAP1_uc004amz.3_Missense_Mutation_p.L258F NM_025211 NP_079487 Q5VSY0 GKAP1_HUMAN Homo sapiens G kinase anchoring protein 1 (GKAP1), transcript variant 1, mRNA. 309 signal transduction Golgi apparatus endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2) 14 ACTTGCAGAAGTATTTCTGCC 0.363000 82 18 0 0 0.006122 0 0 DBC1 1620 broad.mit.edu 37 9 121971120 121971120 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr9:121971120C>T uc004bkc.2 - 6 1478 c.1022G>A c.(1021-1023)cGc>cAc p.R341H NM_014618 NP_055433 O60477 DBC1_HUMAN Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA. 341 cell cycle arrest|cell death cytoplasm protein binding p.R341R(1) NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 GAGCTTGTAGCGGTTCTGCAG 0.552000 53 24 0 0 0.018920 0 0 ABCA8 10351 broad.mit.edu 37 17 66928525 66928525 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:66928525G>A uc002jhq.3 - 6 1041 c.701C>T c.(700-702)tCc>tTc p.S234F ABCA8_uc002jhp.3_Missense_Mutation_p.S234F|ABCA8_uc010wqq.2_Missense_Mutation_p.S234F|ABCA8_uc010wqr.2_Missense_Mutation_p.S173F|ABCA8_uc002jhr.3_Missense_Mutation_p.S234F|ABCA8_uc002jhs.3_Missense_Mutation_p.S234F|ABCA8_uc002jht.3_Missense_Mutation_p.S234F NM_007168 NP_009099 O94911 ABCA8_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA. 234 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) AATGAATGAGGAAAATGAAAT 0.378000 42 14 0 0 0.016723 0 0 SCN11A 11280 broad.mit.edu 37 3 38888816 38888816 + Missense_Mutation SNP G A A rs150988853 TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:38888816G>A uc021wvy.1 - 25 4944 c.4745C>T c.(4744-4746)tCc>tTc p.S1582F NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA. 1582 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity p.S1582F(2) NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) GACAAAGTAGGATGTGGCTAT 0.438000 46 10 0 0 0.008291 0 0 FMNL2 114793 broad.mit.edu 37 2 153481964 153481964 + Missense_Mutation SNP A G G TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr2:153481964A>G uc002tye.3 + 15 2217 c.1850A>G c.(1849-1851)aAg>aGg p.K617R FMNL2_uc010fob.3_Missense_Mutation_p.K73R|FMNL2_uc002tyf.3_Missense_Mutation_p.K66R NM_052905 NP_443137 Q96PY5 FMNL2_HUMAN Homo sapiens formin-like 2 (FMNL2), mRNA. 617 FH2. actin cytoskeleton organization cytoplasm Rho GTPase binding|actin binding central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 23 GTGAAAATTAAGAAGCCAATC 0.418000 24 12 0 0 0.010729 0 0 CES4A 283848 broad.mit.edu 37 16 67039259 67039259 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr16:67039259C>T uc002eqv.3 + 9 1381 c.1266C>T c.(1264-1266)ttC>ttT p.F422F CES4A_uc010vix.2_Silent_p.F426F|CES4A_uc002eqw.3_Silent_p.F399F|CES4A_uc010viy.2_Silent_p.F332F|CES4A_uc002eqx.3_Silent_p.F232F|CES4A_uc002eqy.3_Silent_p.F328F NM_001190201 NP_001177130 Q5XG92 EST4A_HUMAN Homo sapiens carboxylesterase 4A (CES4A), transcript variant 3, mRNA. 426 extracellular region carboxylesterase activity p.F399L(1) large_intestine(2)|liver(2)|lung(4)|ovary(1) 9 ATGCCACTTTCGTGTATGCCA 0.532000 65 41 0 0 0.036044 0 0 PPIP5K2 23262 broad.mit.edu 37 5 102537323 102537323 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:102537323G>A uc003kod.4 + 30 4239 c.3720G>A c.(3718-3720)ggG>ggA p.G1240G PPIP5K2_uc011cva.2_Non-coding_Transcript|PPIP5K2_uc003koe.3_Silent_p.G1219G|PPIP5K2_uc003kof.3_Silent_p.G422G NM_015216 NP_056031 O43314 VIP2_HUMAN Homo sapiens diphosphoinositol pentakisphosphate kinase 2 (PPIP5K2), mRNA. 1240 inositol metabolic process cytosol ATP binding|acid phosphatase activity|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 AAAACACTGGGAAAAAGAAAT 0.318000 12 9 0 0 0.004482 0 0 PTPRF 5792 broad.mit.edu 37 1 44086843 44086843 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:44086843C>T uc001cjr.3 + 32 5935 c.5595C>T c.(5593-5595)gtC>gtT p.V1865V PTPRF_uc001cjs.3_Silent_p.V1856V|PTPRF_uc001cju.3_Silent_p.V1254V|PTPRF_uc009vwt.3_Silent_p.V1425V|PTPRF_uc001cjv.3_Silent_p.V1336V|PTPRF_uc001cjw.3_Silent_p.V1091V NM_002840 NP_002831 P10586 PTPRF_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA. 1865 Tyrosine-protein phosphatase 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) AGGGCGTGGTCGACATGTTTC 0.622000 31 17 0 0 0.033300 0 0 SLC13A2 9058 broad.mit.edu 37 17 26822813 26822813 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:26822813C>T uc010wan.2 + 9 1663 c.1596C>T c.(1594-1596)ttC>ttT p.F532F SLC13A2_uc010wam.2_Silent_p.F439F|SLC13A2_uc002hbh.3_Silent_p.F483F|SLC13A2_uc010wao.2_Silent_p.F440F|SLC13A2_uc002hbi.3_Silent_p.F412F NM_001145975 NP_001139447 Q13183 S13A2_HUMAN Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA. 483 integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) CTACGATCTTCCTGCCCATCC 0.632000 64 36 0 0 0.027894 0 0 SLC30A8 169026 broad.mit.edu 37 8 118170030 118170030 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr8:118170030C>T uc003yoh.3 + 3 749 c.519C>T c.(517-519)atC>atT p.I173I SLC30A8_uc010mcz.3_Silent_p.I124I|SLC30A8_uc003yog.3_Silent_p.I124I|SLC30A8_uc011lia.2_Silent_p.I124I|SLC30A8_uc022bab.1_Silent_p.I124I NM_173851 NP_001166286 Q8IWU4 ZNT8_HUMAN Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA. 173 insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5) 41 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) ATTACCAGATCCAGGCGACTG 0.567000 567 163 0 0 0.014410 0 0 NOTCH3 4854 broad.mit.edu 37 19 15281344 15281344 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:15281344C>T uc002nan.3 - 26 4988 c.4912G>A c.(4912-4914)Gaa>Aaa p.E1638K NM_000435 NP_000426 Q9UM47 NOTC3_HUMAN Homo sapiens notch 3 (NOTCH3), mRNA. 1638 Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) ACGCTGGGTTCTGGAGGCTCC 0.701000 16 5 0 0 0.021553 0 0 SLC18A1 6570 broad.mit.edu 37 8 20004874 20004874 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr8:20004874C>T uc011kyq.2 - 15 1830 c.1359G>A c.(1357-1359)aaG>aaA p.K453K SLC18A1_uc003wzm.3_Silent_p.K453K|SLC18A1_uc011kyr.2_Intron|SLC18A1_uc003wzn.3_Silent_p.K421K|SLC18A1_uc010ltf.3_Non-coding_Transcript NM_001135691 NP_003044 P54219 VMAT1_HUMAN Homo sapiens solute carrier family 18 (vesicular monoamine), member 1 (SLC18A1), transcript variant 1, mRNA. 453 neurotransmitter transport clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction drug transmembrane transporter activity|monoamine transmembrane transporter activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 29 Colorectal(74;0.0747) AACCGATGGCCTTTACAATGG 0.537000 18 13 0 0 0.028581 0 0 EPHA6 285220 broad.mit.edu 37 3 97251218 97251218 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:97251218C>T uc010how.1 + 10 2260 c.2217C>T c.(2215-2217)gtC>gtT p.V739V EPHA6_uc011bgo.1_Non-coding_Transcript|EPHA6_uc011bgp.1_Silent_p.V105V|EPHA6_uc003drs.4_Silent_p.V131V|EPHA6_uc003drr.4_Silent_p.V131V|EPHA6_uc003drt.3_Silent_p.V131V|EPHA6_uc010hox.1_Non-coding_Transcript NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA. 644 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 TTGGAGAAGTCTGTAGTGGGC 0.383000 72 27 0 0 0.030593 0 0 GRIK4 2900 broad.mit.edu 37 11 120838011 120838011 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:120838011G>A uc001pxn.2 + 18 2661 c.2374G>A c.(2374-2376)Gag>Aag p.E792K GRIK4_uc009zaw.1_Missense_Mutation_p.E792K|GRIK4_uc009zax.1_Missense_Mutation_p.E792K NM_014619 NP_055434 Q16099 GRIK4_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 4 (GRIK4), mRNA. 792 glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 69 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) GTGCCCCAAGGAGGAAGATCA 0.532000 20 12 0 0 0.024245 0 0 PLCL1 5334 broad.mit.edu 37 2 198948543 198948543 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr2:198948543C>T uc010fsp.3 + 1 700 c.302C>T c.(301-303)tCg>tTg p.S101L PLCL1_uc002uuv.4_Missense_Mutation_p.S22L NM_006226 NP_006217 Q15111 PLCL1_HUMAN Homo sapiens phospholipase C-like 1 (PLCL1), mRNA. 101 Interaction with PPP1C. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) AGCATGCCATCGGAAAAGAAA 0.383000 18 13 0 0 0.024245 0 0 FZD2 2535 broad.mit.edu 37 17 42636670 42636670 + Missense_Mutation SNP G C C TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:42636670G>C uc002igx.2 + 0 1859 c.1614G>C c.(1612-1614)tgG>tgC p.W538C NM_001466 NP_001457 Q14332 FZD2_HUMAN Homo sapiens frizzled family receptor 2 (FZD2), mRNA. 538 G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8) 33 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) CGGGCTTCTGGATCTGGTCGG 0.627000 25 9 0 0 0.006214 0 0 ASNS 440 broad.mit.edu 37 7 97482507 97482507 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:97482507G>A uc003uot.4 - 11 1847 c.1341C>T c.(1339-1341)ctC>ctT p.L447L ASNS_uc011kin.2_Silent_p.L364L|ASNS_uc011kio.2_Silent_p.L426L|ASNS_uc003uou.4_Silent_p.L447L|ASNS_uc003uov.4_Silent_p.L447L|ASNS_uc003uox.4_Silent_p.L364L NM_133436 NP_001171548 P08243 ASNS_HUMAN Homo sapiens asparagine synthetase (glutamine-hydrolyzing) (ASNS), transcript variant 1, mRNA. 447 Asparagine synthetase. cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle cytosol|soluble fraction ATP binding|asparagine synthase (glutamine-hydrolyzing) activity ovary(1) 1 all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369) Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) TCTCTCTCAGGAGATGTTTTT 0.383000 14 23 0 0 0.018920 0 0 ANKRD52 283373 broad.mit.edu 37 12 56639219 56639219 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr12:56639219G>A uc001skm.4 - 20 2436 c.2346C>T c.(2344-2346)ccC>ccT p.P782P NM_173595 NP_775866 Q8NB46 ANR52_HUMAN Homo sapiens ankyrin repeat domain 52 (ANKRD52), mRNA. 782 protein binding endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1) 29 CGGCATCCAGGGGATCTGTGG 0.627000 25 21 0 0 0.010504 0 0 PM20D1 148811 broad.mit.edu 37 1 205801883 205801883 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:205801883G>A uc001hdj.3 - 10 1204 c.1128C>T c.(1126-1128)ctC>ctT p.L376L PM20D1_uc009xbr.3_Non-coding_Transcript NM_152491 NP_689704 Q6GTS8 P20D1_HUMAN Homo sapiens peptidase M20 domain containing 1 (PM20D1), mRNA. 376 extracellular region metal ion binding|peptidase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1) 28 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0252) TGTTCTTCGTGAGTTCTAGGA 0.463000 58 23 0 0 0.018920 0 0 PAPD4 167153 broad.mit.edu 37 5 78964810 78964811 + Missense_Mutation DNP CC TT TT TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:78964810_78964811CC>TT uc010jae.1 + 12 1585_1586 c.1167_1168CC>TT c.(1165-1170)gacctc>gaTTtc p.L390F PAPD4_uc003kgb.2_Missense_Mutation_p.L390F|PAPD4_uc010jaf.1_Missense_Mutation_p.L390F|PAPD4_uc003kga.2_Missense_Mutation_p.L386F|PAPD4_uc003kfz.2_Missense_Mutation_p.L347F NM_001114393 NP_776158 Q6PIY7 GLD2_HUMAN Homo sapiens PAP associated domain containing 4 (PAPD4), transcript variant 2, mRNA. 390 PAP-associated. RNA polyadenylation|histone mRNA catabolic process|mRNA processing cytoplasm ATP binding|metal ion binding|polynucleotide adenylyltransferase activity p.L390L(1) biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36) ACCTTGGGGACCTCTTACTGGG 0.371000 76 45 0 0 0.004672 0 0 DNAH5 1767 broad.mit.edu 37 5 13824396 13824396 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:13824396G>A uc003jfd.2 - 38 6533 c.6491C>T c.(6490-6492)aCc>aTc p.T2164I NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 2164 AAA 1 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TGCTCCCAAGGTCCGAAGAAC 0.418000 Kartagener syndrome 31 4 0 0 0.009096 0 0 SLC16A14 151473 broad.mit.edu 37 2 230911305 230911305 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr2:230911305C>T uc002vqd.2 - 3 996 c.537G>A c.(535-537)ctG>ctA p.L179L FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Silent_p.L179L|SLC16A14_uc002vqf.3_Silent_p.L179L NM_152527 NP_689740 Q7RTX9 MOT14_HUMAN Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA. 179 integral to membrane|plasma membrane symporter activity NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948) ACAGGTACTTCAGCAGCACAG 0.587000 43 40 0 0 0.011902 0 0 DNAH3 55567 broad.mit.edu 37 16 21048133 21048133 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr16:21048133G>A uc010vbe.2 - 34 4988 c.4988C>T c.(4987-4989)cCa>cTa p.P1663L NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 1663 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) GTCTGGCTTTGGAAGAACAAC 0.328000 30 20 0 0 0.012319 0 0 TMEM30A 55754 broad.mit.edu 37 6 75969155 75969155 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr6:75969155G>A uc003phw.2 - 4 871 c.593C>T c.(592-594)gCt>gTt p.A198V TMEM30A_uc003phx.2_Missense_Mutation_p.A162V NM_018247 NP_060717 Q9NV96 CC50A_HUMAN Homo sapiens transmembrane protein 30A (TMEM30A), transcript variant 1, mRNA. 198 integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CTTTTTCAAAGCGATAGGTAT 0.343000 52 21 0 0 0.008871 0 0 BRCA2 675 broad.mit.edu 37 13 32918773 32918773 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr13:32918773C>T uc001uub.1 + 11 7147 c.6920C>T c.(6919-6921)tCa>tTa p.S2307L NM_000059 NP_000050 P51587 BRCA2_HUMAN Homo sapiens breast cancer 2, early onset (BRCA2), mRNA. 2307 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TTAAAGGCTTCAAAAAGCACT 0.308000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 16 9 0 0 0.006214 0 0 NOS2 4843 broad.mit.edu 37 17 26089889 26089889 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:26089889G>A uc002gzu.3 - 21 2999 c.2735C>T c.(2734-2736)tCc>tTc p.S912F NM_000625 NP_000616 P35228 NOS2_HUMAN Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA. 912 FAD-binding FR-type. arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus FMN binding|NADP binding|arginine binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 56 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) ATCCCGGGAGGAGCTGATGGA 0.632000 10 6 0 0 0.021553 0 0 WDR53 348793 broad.mit.edu 37 3 196281221 196281221 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:196281221C>T uc003fwt.3 - 3 1409 c.938G>A c.(937-939)gGc>gAc p.G313D NM_182627 NP_872433 Q7Z5U6 WDR53_HUMAN Homo sapiens WD repeat domain 53 (WDR53), mRNA. 313 breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 13 all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00326) TAAAATGTTGCCATGTTCTTC 0.393000 80 33 0 0 0.019004 0 0 C2CD3 26005 broad.mit.edu 37 11 73759367 73759367 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:73759367G>A uc001ouu.2 - 27 5605 c.5378C>T c.(5377-5379)cCc>cTc p.P1793L C2CD3_uc001out.3_Non-coding_Transcript NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA. 1793 centrosome p.P1793L(2) NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3) 64 Breast(11;4.16e-06) GAAGGAAAAGGGACTGTATAT 0.418000 5 5 0 0 0.021553 0 0 MAGEC1 9947 broad.mit.edu 37 X 140996386 140996386 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chrX:140996386C>T uc004fbt.3 + 3 3520 c.3196C>T c.(3196-3198)Cgt>Tgt p.R1066C MAGEC1_uc010nsl.2_Missense_Mutation_p.R133C|MAGEC1_uc022cfi.1_Missense_Mutation_p.R725C NM_005462 NP_005453 O60732 MAGC1_HUMAN Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA. 1066 MAGE. protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TTCTCCTCCTCGTTACGAATT 0.493000 HNSCC(15;0.026) 51 64 0 0 0.014410 0 0 CHSY1 22856 broad.mit.edu 37 15 101719038 101719038 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr15:101719038G>A uc021sxt.1 - 2 1440 c.964C>T c.(964-966)Cgc>Tgc p.R322C CHSY1_uc010usd.2_Missense_Mutation_p.R50C NM_014918 NP_055733 Q86X52 CHSS1_HUMAN Homo sapiens chondroitin sulfate synthase 1 (CHSY1), mRNA. 322 chondroitin sulfate biosynthetic process Golgi cisterna membrane|integral to membrane N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1) 24 Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GATATCTTGCGGCTCAGCATG 0.468000 37 23 0 0 0.021523 0 0 NUP85 79902 broad.mit.edu 37 17 73214302 73214302 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:73214302C>T uc002jng.1 + 6 758 c.498C>T c.(496-498)ctC>ctT p.L166L NUP85_uc010wrv.1_Silent_p.L120L NM_024844 NP_079120 Q9BW27 NUP85_HUMAN Homo sapiens nucleoporin 85kDa (NUP85), mRNA. 166 carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction Nup107-160 complex|condensed chromosome kinetochore|cytosol|nuclear membrane|spindle protein binding endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 16 all_lung(278;0.14)|Lung NSC(278;0.168) all cancers(21;3.45e-06) TCCTCCATCTCCTTGACTGGG 0.527000 44 33 0 0 0.012213 0 0 ALS2CL 259173 broad.mit.edu 37 3 46716164 46716164 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:46716164G>A uc003cqa.2 - 20 2514 c.2321C>T c.(2320-2322)aCg>aTg p.T774M ALS2CL_uc003cpx.2_Missense_Mutation_p.T121M|ALS2CL_uc003cpy.2_Non-coding_Transcript|ALS2CL_uc003cpz.2_Missense_Mutation_p.T289M|ALS2CL_uc003cqc.2_Non-coding_Transcript|ALS2CL_uc003cqb.2_Missense_Mutation_p.T774M NM_001190707 NP_667340 Q60I27 AL2CL_HUMAN Homo sapiens ALS2 C-terminal like (ALS2CL), transcript variant 2, mRNA. 774 endosome organization|regulation of Rho protein signal transduction GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|identical protein binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2) 29 BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) CAGGTAGAGCGTGAAGAGCTC 0.567000 58 21 0 0 0.008871 0 0 C9orf86 55684 broad.mit.edu 37 9 139733721 139733722 + Missense_Mutation DNP GG AA AA TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr9:139733721_139733722GG>AA uc004cjj.1 + 11 2001_2002 c.1544_1545GG>AA c.(1543-1545)agg>aAA p.R515K C9orf86_uc004cji.1_Missense_Mutation_p.R514K|C9orf86_uc004cjk.1_Intron|C9orf86_uc004cjl.1_Intron|C9orf86_uc010nbs.1_Missense_Mutation_p.R399K|C9orf86_uc004cjn.1_Missense_Mutation_p.R308K NM_001173988 NP_001167459 Q3YEC7 PARF_HUMAN Homo sapiens chromosome 9 open reading frame 86 (C9orf86), transcript variant 3, mRNA. 514 small GTPase mediated signal transduction cytoplasm|nucleus GTP binding|protein binding endometrium(4)|kidney(1)|lung(4) 9 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183) GCTCCCACGAGGACCGCAGCAC 0.658000 13 5 0 0 0.004672 0 0 KATNB1 10300 broad.mit.edu 37 16 57785893 57785893 + Silent SNP T G G TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr16:57785893T>G uc002eml.1 + 7 932 c.558T>G c.(556-558)ccT>ccG p.P186P NM_005886 NP_005877 Q9BVA0 KTNB1_HUMAN Homo sapiens katanin p80 (WD repeat containing) subunit B 1 (KATNB1), mRNA. 186 Interaction with centrosomes.|Interaction with dynein (By similarity). cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting katanin complex|microtubule|spindle pole microtubule binding|protein heterodimerization activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_neural(199;0.223) CTGAGTTCCCTGGTCACACGG 0.637000 28 10 0 0 0.008291 0 0 NPNT 255743 broad.mit.edu 37 4 106859538 106859538 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr4:106859538C>T uc011cfd.2 + 5 769 c.556C>T c.(556-558)Cct>Tct p.P186S NPNT_uc011cfc.2_Missense_Mutation_p.P173S|NPNT_uc011cfe.2_Missense_Mutation_p.P186S|NPNT_uc003hya.3_Missense_Mutation_p.P156S|NPNT_uc011cff.2_Missense_Mutation_p.P156S NM_001184691 NP_001171620 Q6UXI9 NPNT_HUMAN Homo sapiens nephronectin (NPNT), transcript variant 3, mRNA. 156 EGF-like 4; calcium-binding (Potential). cell differentiation membrane calcium ion binding kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.41e-07) GTGCCCATCCCCTGGCCTGCA 0.522000 30 29 0 0 0.037714 0 0 SH2D3A 10045 broad.mit.edu 37 19 6755166 6755166 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:6755166G>A uc002mft.3 - 4 851 c.657C>T c.(655-657)ttC>ttT p.F219F SH2D3A_uc010xjg.2_Silent_p.F97F NM_005490 NP_005481 Q9BRG2 SH23A_HUMAN Homo sapiens SH2 domain containing 3A (SH2D3A), mRNA. 219 JNK cascade|small GTPase mediated signal transduction intracellular SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1) 24 CAGGCAGTTCGAAGGAGGGTG 0.657000 225 88 0 0 0.014410 0 0 WSCD2 9671 broad.mit.edu 37 12 108626526 108626526 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr12:108626526G>A uc001tms.3 + 6 1742 c.998G>A c.(997-999)aGa>aAa p.R333K WSCD2_uc001tmt.3_Missense_Mutation_p.R333K|WSCD2_uc001tmu.3_Missense_Mutation_p.R81K NM_014653 NP_055468 Q2TBF2 WSCD2_HUMAN Homo sapiens WSC domain containing 2 (WSCD2), mRNA. 333 integral to membrane breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 57 TGCATGGACAGAAGGTTCCTG 0.582000 37 13 0 0 0.020292 0 0 PSD 5662 broad.mit.edu 37 10 104174684 104174684 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr10:104174684C>T uc001kvg.1 - 3 1587 c.1060G>A c.(1060-1062)Gac>Aac p.D354N PSD_uc001kvh.1_5'UTR|PSD_uc009xxd.1_Missense_Mutation_p.D354N NM_002779 NP_002770 A5PKW4 PSD1_HUMAN Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA. 354 regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) GCCTCATCGTCGTCCTCATCC 0.667000 55 33 0 0 0.015359 0 0 SLC2A2 6514 broad.mit.edu 37 3 170715716 170715716 + Silent SNP G A A rs148414372 TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:170715716G>A uc003fhe.1 - 10 1860 c.1551C>T c.(1549-1551)ttC>ttT p.F517F U1_uc021xhg.1_5'Flank|SLC2A2_uc003fhf.1_Silent_p.F344F|SLC2A2_uc011bpu.1_Silent_p.F390F NM_000340 NP_000331 P11168 GTR2_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 2 (SLC2A2), mRNA. 517 carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion integral to plasma membrane|membrane fraction D-glucose transmembrane transporter activity central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14) TAGCTCCTAGGAATTTCATTT 0.398000 85 22 0 0 0.016522 0 0 MAPK8IP2 23542 broad.mit.edu 37 22 51041860 51041860 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr22:51041860C>T uc003bmx.3 + 2 497 c.380C>T c.(379-381)tCc>tTc p.S127F MAPK8IP2_uc003bmy.3_Missense_Mutation_p.S100F|MAPK8IP2_uc011asc.2_5'Flank NM_012324 NP_036456 Q13387 JIP2_HUMAN Homo sapiens mitogen-activated protein kinase 8 interacting protein 2 (MAPK8IP2), transcript variant 1, mRNA. 127 JNK-binding domain (JBD). MAPKKK cascade|behavioral fear response|dendrite morphogenesis|nonassociative learning|positive regulation of anti-apoptosis|regulation of JNK cascade|regulation of excitatory postsynaptic membrane potential|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior cytoplasm|postsynaptic density MAP-kinase scaffold activity|beta-amyloid binding|kinesin binding|protein kinase activator activity|protein kinase binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 7 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CTTATCCCCTCCCCTTCCGTG 0.697000 4 9 0 0 0.006214 0 0 HGF 3082 broad.mit.edu 37 7 81381466 81381466 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:81381466C>T uc003uhl.3 - 4 760 c.595G>A c.(595-597)Gaa>Aaa p.E199K HGF_uc003uhm.3_Missense_Mutation_p.E194K|HGF_uc003uhn.1_Missense_Mutation_p.E199K|HGF_uc003uho.1_Missense_Mutation_p.E194K|HGF_uc003uhp.3_Missense_Mutation_p.E199K NM_000601 NP_000592 P14210 HGF_HUMAN Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA. 199 Kringle 1. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity p.E199K(2) NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 TCACAGACTTCGTAGCGTACC 0.468000 61 26 0 0 0.034045 0 0 OR5M9 390162 broad.mit.edu 37 11 56230826 56230826 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:56230826G>A uc010rjj.2 - 0 52 c.52C>T c.(52-54)Cgt>Tgt p.R18C OR8U8_uc001nit.2_Intron NM_001004743 NP_001004743 Q8NGP3 OR5M9_HUMAN Homo sapiens olfactory receptor, family 5, subfamily M, member 9 (OR5M9), mRNA. 18 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R18H(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 36 Esophageal squamous(21;0.00448) AGCTCCTGACGACAGGTCAGC 0.428000 14 12 0 0 0.020292 0 0 CCNA1 8900 broad.mit.edu 37 13 37006837 37006838 + Missense_Mutation DNP GG AA AA rs113565588 byFrequency TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr13:37006837_37006838GG>AA uc001uvr.4 + 0 429_430 c.79_80GG>AA c.(79-81)gga>AAa p.G27K CCNA1_uc010teo.2_Intron|CCNA1_uc010abq.3_Intron|CCNA1_uc010abp.3_Intron|CCNA1_uc001uvs.4_Missense_Mutation_p.G27K|CCNA1_uc010abr.3_Non-coding_Transcript NM_003914 NP_001104517 P78396 CCNA1_HUMAN Homo sapiens cyclin A1 (CCNA1), transcript variant 1, mRNA. 27 G2/M transition of mitotic cell cycle|cell division|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis cytosol|microtubule cytoskeleton|nucleoplasm protein kinase binding p.E26K(1) breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 35 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242) CAGCTGGGAAGGACCGGGGCTC 0.545000 14 5 0 0 0.004672 0 0 WIZ 58525 broad.mit.edu 37 19 15538239 15538239 + Missense_Mutation SNP A T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:15538239A>T uc002nbc.3 - 3 1180 c.1157T>A c.(1156-1158)aTg>aAg p.M386K WIZ_uc002nba.4_Missense_Mutation_p.M253K|WIZ_uc002nbb.4_Missense_Mutation_p.M212K NM_021241 NP_067064 O95785 WIZ_HUMAN Homo sapiens widely interspaced zinc finger motifs (WIZ), mRNA. 1069 nucleus zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 24 GGTCACGCCCATTTGCCGCAG 0.642000 35 17 0 0 0.007413 0 0 THEMIS 387357 broad.mit.edu 37 6 128222074 128222074 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr6:128222074C>T uc011ebt.2 - 0 153 c.4G>A c.(4-6)Gca>Aca p.A2T THEMIS_uc021zfa.1_Missense_Mutation_p.A2T|THEMIS_uc010kfb.3_Intron NM_001164685 NP_001158157 Q8N1K5 THMS1_HUMAN Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA. 2 CABIT 1. T cell receptor signaling pathway|negative T cell selection|positive T cell selection cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 AGTGATAATGCCATTGCTATG 0.502000 49 36 0 0 0.023175 0 0 SSR2 6746 broad.mit.edu 37 1 155984846 155984846 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:155984846G>A uc001fmx.3 - 3 349 c.269C>T c.(268-270)tCc>tTc p.S90F SSR2_uc001fmv.3_5'Flank|SSR2_uc010pgw.2_Missense_Mutation_p.S109F NM_003145 NP_003136 P43308 SSRB_HUMAN Homo sapiens signal sequence receptor, beta (translocon-associated protein beta) (SSR2), mRNA. 90 cotranslational protein targeting to membrane endoplasmic reticulum membrane|integral to membrane signal sequence binding p.S90S(1) cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|stomach(1) 10 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) CACAGTGTGGGAGACATTGCT 0.498000 24 16 0 0 0.033300 0 0 SGSH 6448 broad.mit.edu 37 17 78188523 78188523 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:78188523G>A uc002jxz.4 - 3 484 c.397C>T c.(397-399)Ccg>Tcg p.P133S SGSH_uc002jya.4_5'UTR|SGSH_uc002jxy.2_Missense_Mutation_p.P133S|SGSH_uc010wue.1_Silent_p.T144T NM_000199 NP_000190 P51688 SPHM_HUMAN Homo sapiens N-sulfoglucosamine sulfohydrolase (SGSH), mRNA. 133 proteoglycan metabolic process lysosome N-sulfoglucosamine sulfohydrolase activity|metal ion binding|sulfuric ester hydrolase activity central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908) AAGTCAAACGGGTACACGGTC 0.597000 30 26 0 0 0.034045 0 0 MIR563 693148 broad.mit.edu 37 3 15915345 15915345 + RNA SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:15915345C>T uc021wtp.1 + 0 c.68C>T Homo sapiens microRNA 563 (MIR563), microRNA. ACATACGTTTCCCTGGTAGCC 0.388000 44 9 0 0 0.006214 0 0 FTSJD1 55783 broad.mit.edu 37 16 71319448 71319448 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr16:71319448G>A uc021tkr.1 - 0 376 c.376C>T c.(376-378)Cca>Tca p.P126S FTSJD1_uc010cga.3_Missense_Mutation_p.P126S|FTSJD1_uc002ezy.4_Missense_Mutation_p.P126S|FTSJD1_uc002ezz.4_Missense_Mutation_p.P126S NM_018348 NP_060818 Q8IYT2 FTSJ1_HUMAN Homo sapiens FtsJ methyltransferase domain containing 1 (FTSJD1), transcript variant 1, mRNA. 126 integral to membrane methyltransferase activity|nucleic acid binding breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GGAATAAGTGGAAAGCTGCAC 0.378000 47 19 0 0 0.010504 0 0 TOX2 84969 broad.mit.edu 37 20 42694499 42694499 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr20:42694499C>T uc010ggo.3 + 6 1148 c.1108C>T c.(1108-1110)Cct>Tct p.P370S TOX2_uc002xle.4_Missense_Mutation_p.P328S|TOX2_uc010ggp.3_Missense_Mutation_p.P328S|TOX2_uc002xlf.4_Missense_Mutation_p.P352S|TOX2_uc010zwk.2_Missense_Mutation_p.P248S NM_001098797 NP_116272 Q96NM4 TOX2_HUMAN Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA. 352 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2) 26 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) TGGGGCCTCCCCTGCCAGCCT 0.697000 69 21 0 0 0.012319 0 0 SLA2 84174 broad.mit.edu 37 20 35269716 35269716 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr20:35269716C>T uc002xfv.3 - 1 446 c.23G>A c.(22-24)aGa>aAa p.R8K SLA2_uc002xfu.3_Missense_Mutation_p.R8K NM_032214 NP_115590 Q9H6Q3 SLAP2_HUMAN Homo sapiens Src-like-adaptor 2 (SLA2), transcript variant 1, mRNA. 8 B cell mediated immunity|T cell activation|antigen receptor-mediated signaling pathway|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane SH3/SH2 adaptor activity|protein N-terminus binding p.R7K(1) endometrium(1)|lung(2)|skin(2) 5 Breast(12;0.114) Myeloproliferative disorder(115;0.00878) CAGAGATTTTCTTCTGCTGGG 0.557000 60 25 0 0 0.027356 0 0 CD101 9398 broad.mit.edu 37 1 117564359 117564359 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:117564359C>T uc010oxb.1 + 6 2240 c.2182C>T c.(2182-2184)Ctg>Ttg p.L728L CD101_uc009whd.3_Silent_p.L728L|CD101_uc010oxc.1_Silent_p.L728L|CD101_uc010oxd.1_Silent_p.L666L NM_004258 NP_004249 Q93033 IGSF2_HUMAN Homo sapiens CD101 molecule (CD101), transcript variant 1, mRNA. 728 Ig-like C2-type 6. cell surface receptor linked signaling pathway integral to membrane|plasma membrane hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 GCTAAAGATCCTGGAGATGGA 0.393000 15 12 0 0 0.020292 0 0 TAOK2 9344 broad.mit.edu 37 16 29998830 29998831 + Missense_Mutation DNP GG AA AA TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr16:29998830_29998831GG>AA uc010bzm.2 + 14 3293_3294 c.3258_3259GG>AA c.(3256-3261)cggggc>cgAAgc p.G1087S BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Intron|TAOK2_uc021tgf.1_Missense_Mutation_p.G967S|TAOK2_uc002dva.2_Missense_Mutation_p.G1080S|TAOK2_uc002dvc.2_Intron|TAOK2_uc002dvd.2_Missense_Mutation_p.G907S NM_016151 NP_057235 Q9UL54 TAOK2_HUMAN Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA. 1080 actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 GGGTGCGCCGGGGCATATCTCG 0.693000 71 37 0 0 0.004672 0 0 FMO2 2327 broad.mit.edu 37 1 171173094 171173094 + Missense_Mutation SNP C T T rs145420492 TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:171173094C>T uc001ghk.1 + 5 835 c.718C>T c.(718-720)Cgt>Tgt p.R240C FMO2_uc010pmd.1_Missense_Mutation_p.R20C NM_001460 NP_001451 Q99518 FMO2_HUMAN Homo sapiens flavin containing monooxygenase 2 (non-functional) (FMO2), mRNA. 240 NADPH oxidation|drug metabolic process|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity p.R240C(2) endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 22 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CACCCGGTTTCGTTCTATGCT 0.488000 34 16 0 0 0.007413 0 0 RYR3 6263 broad.mit.edu 37 15 34102840 34102840 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr15:34102840G>A uc001zhi.3 + 70 10257 c.10187G>A c.(10186-10188)cGa>cAa p.R3396Q RYR3_uc010bar.3_Missense_Mutation_p.R3391Q NM_001036 NP_001027 Q15413 RYR3_HUMAN Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA. 3396 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GCAAAATCGCGATACAGCCAT 0.547000 29 17 0 0 0.033300 0 0 ITGA11 22801 broad.mit.edu 37 15 68631854 68631854 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr15:68631854G>A uc010bib.3 - 10 1347 c.1260C>T c.(1258-1260)aaC>aaT p.N420N ITGA11_uc002ari.3_Silent_p.N420N NM_001004439 NP_001004439 Q9UKX5 ITA11_HUMAN Homo sapiens integrin, alpha 11 (ITGA11), mRNA. 420 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 52 Tirofiban(DB00775) ATGCACCATGGTTCTTGAGCT 0.622000 18 9 0 0 0.004482 0 0 SLC24A3 57419 broad.mit.edu 37 20 19698203 19698203 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr20:19698203C>T uc002wrl.3 + 15 1948 c.1751C>T c.(1750-1752)tCc>tTc p.S584F NM_020689 NP_065740 Q9HC58 NCKX3_HUMAN Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA. 584 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 CTGATCTACTCCGTAGGCTTG 0.502000 204 91 0 0 0.014410 0 0 PIK3CB 5291 broad.mit.edu 37 3 138417774 138417774 + Nonsense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:138417774C>T uc011bmq.2 - 10 1745 c.1745G>A c.(1744-1746)tGg>tAg p.W582* PIK3CB_uc011bmn.2_Nonsense_Mutation_p.W94*|PIK3CB_uc011bmo.2_Nonsense_Mutation_p.W28*|PIK3CB_uc011bmp.2_Nonsense_Mutation_p.W169* NM_006219 NP_006210 P42338 PK3CB_HUMAN Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA. 582 PI3K helical. G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 AAGTTTATTCCACTTGATTGA 0.373000 302 110 0 0 0.014410 0 0 CD300LB 124599 broad.mit.edu 37 17 72522183 72522183 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:72522183C>T uc002jkx.2 - 1 198 c.185G>A c.(184-186)aGa>aAa p.R62K CD300LB_uc010wqz.1_Missense_Mutation_p.R62K NM_174892 NP_777552 A8K4G0 CLM7_HUMAN Homo sapiens CD300 molecule-like family member b (CD300LB), mRNA. 25 Ig-like V-type. integral to membrane|plasma membrane receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1) 21 CTCTGGGGCTCTCACAGACTC 0.572000 117 44 0 0 0.014410 0 0 OR10A3 26496 broad.mit.edu 37 11 7960190 7960190 + Missense_Mutation SNP C T T rs146552050 TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:7960190C>T uc010rbi.2 - 0 878 c.878G>A c.(877-879)cGa>cAa p.R293Q NM_001003745 NP_001003745 P58181 O10A3_HUMAN Homo sapiens olfactory receptor, family 10, subfamily A, member 3 (OR10A3), mRNA. 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2) 21 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CTCACTGTTTCGTAAGCTATA 0.418000 20 16 0 0 0.006122 0 0 WNK2 65268 broad.mit.edu 37 9 96055255 96055255 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr9:96055255C>T uc004ati.1 + 22 5619 c.5619C>T c.(5617-5619)ttC>ttT p.F1873F WNK2_uc011lud.1_Silent_p.F1836F|WNK2_uc004atj.3_Silent_p.F1836F|WNK2_uc004atk.3_Silent_p.F1473F|WNK2_uc004atl.1_Silent_p.F430F NM_006648 NP_006639 Q9Y3S1 WNK2_HUMAN Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA. 1873 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 CTGGCGACTTCGTGAAGAAGG 0.706000 29 6 0 0 0.021553 0 0 HUWE1 10075 broad.mit.edu 37 X 53631699 53631699 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chrX:53631699G>A uc004dsp.3 - 25 2995 c.2593C>T c.(2593-2595)Cct>Tct p.P865S NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA. 865 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 GAGCCCCCAGGGGATTCAATG 0.572000 6 6 0 0 0.029380 0 0 TAOK1 57551 broad.mit.edu 37 17 27802791 27802791 + Splice_Site SNP T C C TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:27802791T>C uc002hdz.2 + 4 500 c.306_splice c.e4+2 p.W102_splice TAOK1_uc010wbe.2_Splice_Site_p.W102_splice NM_020791 NP_065842 Q7L7X3 TAOK1_HUMAN Homo sapiens TAO kinase 1 (TAOK1), transcript variant 1, mRNA. 102 Protein kinase. mitotic prometaphase cytosol|intracellular membrane-bounded organelle ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 Colorectal(6;0.198) ACAGCATGGGTTGGTATTTGT 0.338000 26 6 0 0 0.021553 0 0 OR13C3 138803 broad.mit.edu 37 9 107298400 107298400 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr9:107298400G>A uc004bcb.1 - 0 695 c.695C>T c.(694-696)tCa>tTa p.S232L NM_001001961 NP_001001961 Q8NGS6 O13C3_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA. 232 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1) 19 GGCCATATTTGATATCACCAT 0.398000 60 22 0 0 0.014323 0 0 MUC4 4585 broad.mit.edu 37 3 195516830 195516830 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:195516830C>T uc021xjp.1 - 1 1777 c.1621G>A c.(1621-1623)Gaa>Aaa p.E541K MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Missense_Mutation_p.E423K NM_018406 NP_060876 Q99102 MUC4_HUMAN Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA. 546 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TCTCCTGGTTCCCCTATTGCT 0.547000 146 66 0 0 0.014410 0 0 CYP4F3 4051 broad.mit.edu 37 19 15763658 15763658 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:15763658C>T uc010xok.2 + 8 1061 c.1011C>T c.(1009-1011)ctC>ctT p.L337L CYP4F3_uc010xol.2_Silent_p.L337L|CYP4F3_uc002nbj.3_Silent_p.L337L|CYP4F3_uc010xom.2_Silent_p.L188L|CYP4F3_uc002nbk.3_Silent_p.L337L|CYP4F3_uc010xon.2_Silent_p.L47L NM_001199208 NP_001186137 Q08477 CP4F3_HUMAN Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA. 337 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 CCAGTGGTCTCTCCTGGGTCC 0.597000 OREG0007254 type=TRANSCRIPTION FACTOR BINDING SITE|Gene=CYP4F3|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 48 18 0 0 0.033300 0 0 OR5H15 403274 broad.mit.edu 37 3 97887904 97887904 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:97887904G>A uc011bgu.2 + 0 361 c.361G>A c.(361-363)Gat>Aat p.D121N NM_001005515 NP_001005515 A6NDH6 O5H15_HUMAN Homo sapiens olfactory receptor, family 5, subfamily H, member 15 (OR5H15), mRNA. 121 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Y120F(1) NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1) 35 AATGGCATATGATCGCTATGT 0.373000 72 24 0 0 0.009535 0 0 LCE1E 353135 broad.mit.edu 37 1 152759990 152759990 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:152759990G>A uc021ozg.1 + 0 215 c.215G>A c.(214-216)gGa>gAa p.G72E LCE1E_uc001fan.3_Missense_Mutation_p.G72E NM_178353 NP_848130 Q5T753 LCE1E_HUMAN Homo sapiens late cornified envelope 1E (LCE1E), mRNA. 72 Cys-rich. keratinization p.G72G(1) lung(5)|stomach(1) 6 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) AGCTCTGGGGGAGGTGGCTGC 0.682000 71 32 0 0 0.012213 0 0 SUFU 51684 broad.mit.edu 37 10 104357021 104357021 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr10:104357021G>A uc001kvy.2 + 6 1072 c.881G>A c.(880-882)gGc>gAc p.G294D SUFU_uc001kvw.2_Missense_Mutation_p.G294D|SUFU_uc001kvx.3_Missense_Mutation_p.G294D|SUFU_uc009xxe.2_Non-coding_Transcript|SUFU_uc009xxf.2_Non-coding_Transcript NM_016169 NP_057253 Q9UMX1 SUFU_HUMAN Homo sapiens suppressor of fused homolog (Drosophila) (SUFU), transcript variant 1, mRNA. 294 negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development cytoplasm|nucleus identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2) 24 Colorectal(252;0.207) Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242) ATCTGCATCGGCACACAGCCC 0.617000 """D, F, S""" medulloblastoma medulloblastoma Medulloblastoma, associated with Germline SUFU Mutation OREG0020482 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 93 4 0 0 0.009096 0 0 ATG9B 285973 broad.mit.edu 37 7 150718391 150718391 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:150718391G>A uc011kvc.2 - 4 923 c.847C>T c.(847-849)Ctc>Ttc p.L283F ATG9B_uc003wig.4_Non-coding_Transcript NM_173681 NP_775952 Q674R7 ATG9B_HUMAN Homo sapiens ATG9 autophagy related 9 homolog B (S. cerevisiae) (ATG9B), mRNA. 283 autophagic vacuole assembly autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1) 14 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) ACCAGGAGGAGGACCAGCAGC 0.622000 68 20 0 0 0.012319 0 0 NAALAD2 10003 broad.mit.edu 37 11 89885592 89885592 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:89885592G>A uc001pdf.4 + 5 845 c.736G>A c.(736-738)Gga>Aga p.G246R NAALAD2_uc009yvx.3_Missense_Mutation_p.G246R|NAALAD2_uc009yvy.3_Missense_Mutation_p.G246R|NAALAD2_uc001pdd.2_Missense_Mutation_p.G246R|NAALAD2_uc001pde.3_Missense_Mutation_p.G246R NM_005467 NP_005458 Q9Y3Q0 NALD2_HUMAN Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA. 246 proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2) 59 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) AGCCCAGAGAGGAAATGTGTT 0.458000 28 22 0 0 0.016522 0 0 KTN1 3895 broad.mit.edu 37 14 56104545 56104545 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr14:56104545C>T uc001xcb.3 + 12 2067 c.1765C>T c.(1765-1767)Cat>Tat p.H589Y KTN1_uc001xcc.3_Missense_Mutation_p.H589Y|KTN1_uc001xcd.3_Missense_Mutation_p.H589Y|KTN1_uc001xce.3_Missense_Mutation_p.H589Y|KTN1_uc010trb.2_Missense_Mutation_p.H589Y|KTN1_uc001xcf.1_Missense_Mutation_p.H589Y NM_182926 NP_891556 Q86UP2 KTN1_HUMAN Homo sapiens kinectin 1 (kinesin receptor) (KTN1), transcript variant 1, mRNA. 589 microtubule-based movement endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 19 TCAGCAGTTCCATTCCCAGAT 0.373000 T RET papillary thryoid 42 38 0 0 0.027894 0 0 MUC16 94025 broad.mit.edu 37 19 9061597 9061597 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:9061597G>A uc002mkp.3 - 2 26053 c.25849C>T c.(25849-25851)Cca>Tca p.P8617S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 8619 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTCAAATTTGGAGGTGAACTG 0.483000 67 23 0 0 0.018920 0 0 STBD1 8987 broad.mit.edu 37 4 77227925 77227925 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr4:77227925G>A uc003hka.3 + 0 747 c.3G>A c.(1-3)atG>atA p.M1I FAM47E_uc003hjy.3_Intron|FAM47E_uc011cbv.2_Intron|STBD1_uc011cbw.2_Intron NM_003943 NP_003934 O95210 STBD1_HUMAN Homo sapiens starch binding domain 1 (STBD1), mRNA. 1 carbohydrate metabolic process|muscle contraction integral to plasma membrane|membrane fraction carbohydrate binding|catalytic activity|protein binding endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 13 Lung(101;0.196) TCTCAGCCATGGGCGCCGTCT 0.701000 19 21 0 0 0.016522 0 0 WNK2 65268 broad.mit.edu 37 9 96079878 96079878 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr9:96079878C>T uc004ati.1 + 28 6704 c.6704C>T c.(6703-6705)cCc>cTc p.P2235L WNK2_uc011lud.1_Missense_Mutation_p.P2198L|WNK2_uc004atj.3_Missense_Mutation_p.P2198L|WNK2_uc004atk.3_Missense_Mutation_p.P1723L NM_006648 NP_006639 Q9Y3S1 WNK2_HUMAN Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA. 2235 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 ACGGTCATTCCCGGAGCCGCC 0.657000 38 18 0 0 0.008871 0 0 GFRAL 389400 broad.mit.edu 37 6 55263984 55263984 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr6:55263984C>T uc003pcm.1 + 6 1045 c.959C>T c.(958-960)cCa>cTa p.P320L NM_207410 NP_997293 Q6UXV0 GFRAL_HUMAN Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA. 320 integral to membrane receptor activity NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 48 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) TCAGATTATCCAACCCTGTCT 0.294000 23 3 0 0 0.009096 0 0 ZNF492 57615 broad.mit.edu 37 19 22847002 22847002 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:22847002C>T uc002nqw.3 + 3 775 c.531C>T c.(529-531)gcC>gcT p.A177A NM_020855 NP_065906 Q9P255 ZN492_HUMAN Homo sapiens zinc finger protein 492 (ZNF492), mRNA. 177 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244) GTGGGAAAGCCTATAATGAGA 0.373000 14 3 0 0 0.004672 0 0 COQ5 84274 broad.mit.edu 37 12 120942760 120942760 + Silent SNP C A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr12:120942760C>A uc001tyn.3 - 4 728 c.708G>T c.(706-708)ctG>ctT p.L236L COQ5_uc010szj.2_Silent_p.L162L NM_032314 NP_115690 Q5HYK3 COQ5_HUMAN Homo sapiens coenzyme Q5 homolog, methyltransferase (S. cerevisiae) (COQ5), nuclear gene encoding mitochondrial protein, mRNA. 236 ubiquinone biosynthetic process mitochondrion methyltransferase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3) 20 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CTCCTGGTTTCAGCACCCGAT 0.473000 60 21 1.42536e-11 1.45769e-11 0.024334 1 0 ZFYVE9 9372 broad.mit.edu 37 1 52800411 52800411 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:52800411G>A uc001cto.3 + 14 3813 c.3641G>A c.(3640-3642)gGa>gAa p.G1214E ZFYVE9_uc001ctp.3_Missense_Mutation_p.G1155E NM_004799 NP_004790 O95405 ZFYV9_HUMAN Homo sapiens zinc finger, FYVE domain containing 9 (ZFYVE9), transcript variant 3, mRNA. 1214 SMAD protein complex assembly|SMAD protein import into nucleus|endocytosis|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 53 TCCTCTTCTGGATACCTTGCC 0.403000 66 20 0 0 0.016522 0 0 ASPM 259266 broad.mit.edu 37 1 197112160 197112160 + Nonsense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:197112160G>A uc001gtu.3 - 2 1479 c.1222C>T c.(1222-1224)Cag>Tag p.Q408* ASPM_uc001gtv.3_Nonsense_Mutation_p.Q408*|ASPM_uc001gtw.4_Intron NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA. 408 mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 CATGTTTGCTGAGATGTACAC 0.338000 49 22 0 0 0.012319 0 0 ZNF670 93474 broad.mit.edu 37 1 247201207 247201207 + Silent SNP A G G TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:247201207A>G uc001icd.2 - 3 931 c.714T>C c.(712-714)agT>agC p.S238S ZNF695_uc001ica.3_Intron|ZNF695_uc001icb.2_Intron|ZNF670_uc021plz.1_Silent_p.S237S NM_033213 NP_149990 Q9BS34 ZN670_HUMAN Homo sapiens zinc finger protein 670 (ZNF670), transcript variant 1, mRNA. 238 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 17 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00427) GGCGAAGAGAACTGGAAAAAG 0.388000 41 13 0 0 0.020292 0 0 OR11A1 26531 broad.mit.edu 37 6 29394788 29394788 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr6:29394788G>A uc003nmg.3 - 0 722 c.631C>T c.(631-633)Cct>Tct p.P211S NM_013937 NP_039225 Q9GZK7 O11A1_HUMAN Homo sapiens olfactory receptor, family 11, subfamily A, member 1 (OR11A1), mRNA. 211 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 19 AGTCCAAAAGGAATAGTGAGG 0.507000 30 13 0 0 0.016723 0 0 NALCN 259232 broad.mit.edu 37 13 101717760 101717761 + Silent DNP GG AA AA TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr13:101717760_101717761GG>AA uc001vox.1 - 39 4788_4789 c.4599_4600CC>TT c.(4597-4602)gtcctg>gtTTtg p.1533_1534VL>VL NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN Homo sapiens sodium leak channel, non-selective (NALCN), mRNA. 1533 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TTGTACCTCAGGACATCATGGA 0.540000 98 32 0 0 0.004672 0 0 GUCY1A2 2977 broad.mit.edu 37 11 106810890 106810890 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:106810890C>T uc009yxn.1 - 3 892 c.502G>A c.(502-504)Gaa>Aaa p.E168K GUCY1A2_uc001pjg.1_Missense_Mutation_p.E168K|GUCY1A2_uc010rvo.1_Missense_Mutation_p.E168K NM_000855 NP_000846 P33402 GCYA2_HUMAN Homo sapiens guanylate cyclase 1, soluble, alpha 2 (GUCY1A2), transcript variant 2, mRNA. 168 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding p.E167*(1) breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) TTTTGAATTTCCTCAAACTTC 0.318000 23 11 0 0 0.010729 0 0 HAUS5 23354 broad.mit.edu 37 19 36106232 36106232 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:36106232C>T uc002oam.1 + 5 480 c.429C>T c.(427-429)ctC>ctT p.L143L NM_015302 NP_056117 O94927 HAUS5_HUMAN Homo sapiens HAUS augmin-like complex, subunit 5 (HAUS5), mRNA. 143 cell division|centrosome organization|mitosis|spindle assembly HAUS complex|centrosome|microtubule|spindle NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2) 16 AGCATACGCTCCGAGATCCCA 0.652000 13 8 0 0 0.003080 0 0 LMTK3 114783 broad.mit.edu 37 19 49000828 49000828 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:49000828C>T uc002pjk.3 - 11 3585 c.3585G>A c.(3583-3585)ccG>ccA p.P1195P NM_001080434 NP_001073903 Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA. breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1) 16 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) GCCTGGCTCTCGGGGGCGCTG 0.756000 16 4 0 0 0.009096 0 0 GP1BA 2811 broad.mit.edu 37 17 4836270 4836270 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:4836270C>T uc021tnz.1 + 1 446 c.371C>T c.(370-372)tCc>tTc p.S124F GP1BA_uc021toa.1_Non-coding_Transcript|GP1BA_uc021tob.1_Missense_Mutation_p.S124F NM_000173 NP_000164 E7ES66 E7ES66_HUMAN Homo sapiens glycoprotein Ib (platelet), alpha polypeptide (GP1BA), mRNA. 124 central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1) 20 CTGGACGTCTCCTTCAACCGG 0.607000 87 8 0 0 0.006214 0 0 SEMA3A 10371 broad.mit.edu 37 7 83764220 83764220 + Missense_Mutation SNP T A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:83764220T>A uc003uhz.3 - 1 475 c.160A>T c.(160-162)Agc>Tgc p.S54C NM_006080 NP_006071 Q14563 SEM3A_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA. 54 Sema. axon guidance extracellular region|membrane receptor activity breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 TAACTGGAGCTGTTGGCCAAG 0.398000 57 12 0 0 0.024245 0 0 INVS 27130 broad.mit.edu 37 9 103035345 103035345 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr9:103035345G>A uc004bap.1 + 11 1983 c.1771G>A c.(1771-1773)Gat>Aat p.D591N INVS_uc010mta.2_Missense_Mutation_p.D495N|INVS_uc011lve.1_Missense_Mutation_p.D495N|INVS_uc004bao.1_Missense_Mutation_p.D591N|INVS_uc004baq.1_Missense_Mutation_p.D495N|INVS_uc004bar.1_Missense_Mutation_p.D495N|INVS_uc010mtb.1_Missense_Mutation_p.D265N NM_014425 NP_055240 Q9Y283 INVS_HUMAN Homo sapiens inversin (INVS), transcript variant 1, mRNA. 591 Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway cytoplasm|membrane|microtubule|nucleus|spindle calmodulin binding p.D591F(2) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(62;0.056) GTTGAGAAAAGATGCTGCTGC 0.522000 75 28 0 0 0.024334 0 0 SAMSN1 64092 broad.mit.edu 37 21 15873018 15873018 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr21:15873018C>T uc002yju.1 - 5 682 c.600G>A c.(598-600)atG>atA p.M200I SAMSN1_uc010gky.1_Missense_Mutation_p.M32I|SAMSN1_uc002yjv.1_Missense_Mutation_p.M268I NM_022136 NP_071419 Q9NSI8 SAMN1_HUMAN Homo sapiens SAM domain, SH3 domain and nuclear localization signals 1 (SAMSN1), transcript variant 1, mRNA. 200 SH3. negative regulation of B cell activation|negative regulation of adaptive immune response|negative regulation of peptidyl-tyrosine phosphorylation cytoplasm|nucleus|ruffle phosphotyrosine binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 24 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164) TCCACATCCCCATTGGTGTTT 0.378000 76 25 0 0 0.021523 0 0 VAC14 55697 broad.mit.edu 37 16 70778390 70778390 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr16:70778390G>A uc002ezm.3 - 12 1722 c.1464C>T c.(1462-1464)ctC>ctT p.L488L VAC14_uc010cfw.3_Silent_p.L254L|VAC14_uc002ezn.3_Silent_p.L53L|VAC14_uc010cfx.1_5'UTR NM_018052 NP_060522 Q08AM6 VAC14_HUMAN Homo sapiens Vac14 homolog (S. cerevisiae) (VAC14), mRNA. 488 interspecies interaction between organisms endoplasmic reticulum|endosome membrane|microsome protein binding|receptor activity breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Ovarian(137;0.0699) GGCTGGCCTGGAGGTCAGGGC 0.647000 56 26 0 0 0.030593 0 0 HCN1 348980 broad.mit.edu 37 5 45262146 45262146 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:45262146G>A uc003jok.3 - 7 2575 c.2550C>T c.(2548-2550)atC>atT p.I850I NM_021072 NP_066550 O60741 HCN1_HUMAN Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA. 850 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 GGTTCGGGGGGATGGCTCCCG 0.637000 84 16 0 0 0.028581 0 0 SH3BP5L 80851 broad.mit.edu 37 1 249119065 249119065 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:249119065C>T uc001iew.1 - 1 622 c.70G>A c.(70-72)Gag>Aag p.E24K SH3BP5L_uc001iev.1_5'UTR|MIR3124_uc021pmd.1_5'Flank NM_030645 NP_085148 Q7L8J4 3BP5L_HUMAN Homo sapiens SH3-binding domain protein 5-like (SH3BP5L), mRNA. 24 endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) ACTTCATCCTCTACAACTTCA 0.612000 121 44 0 0 0.013114 0 0 ADRA1A 148 broad.mit.edu 37 8 26627945 26627945 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr8:26627945C>T uc003xfc.1 - 1 1558 c.1122G>A c.(1120-1122)atG>atA p.M374I ADRA1A_uc010lul.1_Intron|ADRA1A_uc003xfd.1_Intron|ADRA1A_uc003xfe.1_Missense_Mutation_p.M374I|ADRA1A_uc010lum.1_Intron|ADRA1A_uc003xff.1_Intron|ADRA1A_uc003xfg.1_Missense_Mutation_p.M374I|ADRA1A_uc003xfh.1_Missense_Mutation_p.M374I NM_033303 NP_150646 P35348 ADA1A_HUMAN Homo sapiens adrenergic, alpha-1A-, receptor (ADRA1A), transcript variant 2, mRNA. 374 activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of Rho protein signal transduction|negative regulation of cell proliferation|negative regulation of synaptic transmission, GABAergic|positive regulation of ERK1 and ERK2 cascade|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction integral to plasma membrane alpha1-adrenergic receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1) 36 all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246) GGATGCGCACCATGTCCTTGT 0.552000 65 42 0 0 0.036044 0 0 DCX 1641 broad.mit.edu 37 X 110544956 110544956 + Silent SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chrX:110544956G>A uc004epd.3 - 6 1457 c.1285C>T c.(1285-1287)Ctg>Ttg p.L429L DCX_uc011msv.2_Silent_p.L434L|DCX_uc004epe.3_Silent_p.L348L|DCX_uc004epf.3_Silent_p.L353L|DCX_uc004epg.3_Silent_p.L348L NM_000555 NP_835366 O43602 DCX_HUMAN Homo sapiens doublecortin (DCX), transcript variant 1, mRNA. 429 axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1) 41 TCCAAGGACAGAGGCAGGTAC 0.413000 21 29 0 0 0.037714 0 0 PXDNL 137902 broad.mit.edu 37 8 52320801 52320801 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr8:52320801G>A uc003xqu.4 - 16 3484 c.3383C>T c.(3382-3384)tCc>tTc p.S1128F PXDNL_uc003xqt.4_Non-coding_Transcript NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA. 1128 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) ATAAGCCGCGGAGAAGAGCCT 0.572000 90 72 0 0 0.014410 0 0 RBM42 79171 broad.mit.edu 37 19 36124003 36124004 + Missense_Mutation DNP CC TT TT TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:36124003_36124004CC>TT uc002oan.3 + 5 609_610 c.533_534CC>TT c.(532-534)gcc>gTT p.A178V RBM42_uc002oap.3_Splice_Site_p.A148_splice|RBM42_uc002oaq.3_Missense_Mutation_p.A149V NM_024321 NP_077297 Q9BTD8 RBM42_HUMAN Homo sapiens RNA binding motif protein 42 (RBM42), mRNA. 178 cytoplasm|nucleus RNA binding|nucleotide binding breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1) 21 all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) TCTGCAGCAGCCGGCCCCCGCC 0.683000 131 39 0 0 0.004672 0 0 ARGFX 503582 broad.mit.edu 37 3 121305189 121305189 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:121305189C>T uc003eef.3 + 4 785 c.690C>T c.(688-690)atC>atT p.I230I NM_001012659 NP_001012677 A6NJG6 ARGFX_HUMAN Homo sapiens arginine-fifty homeobox (ARGFX), mRNA. 230 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 GBM - Glioblastoma multiforme(114;0.152) TATTCCAAATCATAGAACTGT 0.453000 113 42 0 0 0.027894 0 0 KCNH6 81033 broad.mit.edu 37 17 61611504 61611504 + Silent SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:61611504C>T uc002jay.3 + 4 1013 c.933C>T c.(931-933)ttC>ttT p.F311F KCNH6_uc002jax.1_Silent_p.F311F|KCNH6_uc010wpl.2_Silent_p.F188F|KCNH6_uc010wpm.2_Silent_p.F311F|KCNH6_uc002jaz.1_Silent_p.F311F NM_030779 NP_110406 Q9H252 KCNH6_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA. 311 regulation of transcription, DNA-dependent|signal transduction p.F311F(2) breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) ACATCATGTTCGTCGTGGACA 0.587000 163 102 0 0 0.014410 0 0 C1orf168 199920 broad.mit.edu 37 1 57185864 57185864 + Missense_Mutation SNP G A A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:57185864G>A uc001cym.4 - 17 2519 c.2113C>T c.(2113-2115)Cgt>Tgt p.R705C C1orf168_uc001cyl.3_Non-coding_Transcript NM_001004303 NP_001004303 Q5VWT5 CA168_HUMAN Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA. 705 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 TTAGAATTACGACATATCACT 0.269000 24 7 0 0 0.029380 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T rs121913377 TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 48 36 0 0 0.030466 0 0 KCNG3 170850 broad.mit.edu 37 2 42720488 42720488 + Missense_Mutation SNP C T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr2:42720488C>T uc002rsn.3 - 0 750 c.154G>A c.(154-156)Gac>Aac p.D52N MTA3_uc002rso.1_5'Flank|KCNG3_uc002rsm.3_Missense_Mutation_p.D52N NM_133329 NP_579875 Q8TAE7 KCNG3_HUMAN Homo sapiens potassium voltage-gated channel, subfamily G, member 3 (KCNG3), transcript variant 1, mRNA. 52 endoplasmic reticulum|voltage-gated potassium channel complex protein binding central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2) 6 TCGTAGTCGTCGCACACCTCG 0.682000 11 6 0 0 0.029380 0 0 WDR46 9277 broad.mit.edu 37 6 33248675 33248675 + Frame_Shift_Del DEL T - - TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr6:33248675delT uc003ods.3 - 10 1562 c.1205delA c.(1204-1206)catfs p.H402fs WDR46_uc011dra.2_Frame_Shift_Del_p.H348fs NM_005452 NP_005443 O15213 WDR46_HUMAN Homo sapiens WD repeat domain 46 (WDR46), transcript variant 1, mRNA. 402 NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1) 20 CCCTGCTCCATGGGGCAGGGT 0.632 --- 77 --- --- 31 --- GDPD3 79153 broad.mit.edu 37 16 30119700 30119700 + Frame_Shift_Del DEL G - - TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr16:30119700delG uc002dwp.3 - 7 840 c.761delC c.(760-762)tcgfs p.S254fs BOLA2_uc010bzb.1_Intron|GDPD3_uc002dwq.3_Frame_Shift_Del_p.S192fs NM_024307 NP_077283 Q7L5L3 GDPD3_HUMAN Homo sapiens glycerophosphodiester phosphodiesterase domain containing 3 (GDPD3), mRNA. 254 GDPD. glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6) 11 TCACCATTTCGAAACCACAGC 0.567 --- 170 --- --- 90 --- WDR81 124997 broad.mit.edu 37 17 1631341 1631343 + In_Frame_Del DEL GAG - - rs66598941 TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:1631341_1631343delGAG uc002ftj.2 + 0 3217_3219 c.3088_3090delGAG c.(3088-3090)gagdel p.E1033del WDR81_uc002fth.2_5'UTR|WDR81_uc010vqp.1_Intron|WDR81_uc002fti.2_Intron|WDR81_uc010vqq.1_5'Flank NM_001163809 NP_001157281 B3KXU1 B3KXU1_HUMAN Homo sapiens WD repeat domain 81 (WDR81), transcript variant 1, mRNA. 305 cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) AGGGGCTGCTGAGGAGGAGGAGA 0.695 --- 4 --- --- 4 --- DLL3 10683 broad.mit.edu 37 19 39989869 39989870 + Frame_Shift_Ins INS - T T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:39989869_39989870insT uc002olx.2 + 1 165_166 c.107_108insT c.(106-108)tctfs p.S36fs DLL3_uc010egq.3_Frame_Shift_Ins_p.S36fs|DLL3_uc002olw.2_Frame_Shift_Ins_p.S36fs NM_016941 NP_058637 Q9NYJ7 DLL3_HUMAN Homo sapiens delta-like 3 (Drosophila) (DLL3), transcript variant 1, mRNA. 36 Notch signaling pathway|skeletal system development integral to membrane Notch binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7) 19 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) CAGATCCACTCTTTCGGGCCGG 0.733 --- 3 --- --- 4 ---