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 NECAP2 55707 broad.mit.edu 37 1 16778338 16778338 + Missense_Mutation SNP G G A TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr1:16778338G>A uc001ayq.3 + 5 585 c.495G>A c.(493-495)atG>atA p.M165I NECAP2_uc001ayo.3_Missense_Mutation_p.M165I|NECAP2_uc010ocd.2_Missense_Mutation_p.M139I NM_001145277 NP_001138749 Q9NVZ3 NECP2_HUMAN Homo sapiens NECAP endocytosis associated 2 (NECAP2), transcript variant 2, mRNA. 165 endocytosis|protein transport clathrin vesicle coat|coated pit|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649) TTTAGAACATGAAGAAGAAGG 0.602 HNRNPR 10236 broad.mit.edu 37 1 23648083 23648083 + Missense_Mutation SNP A A C TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr1:23648083A>C uc001bgr.4 - 6 908 c.749T>G c.(748-750)gTt>gGt p.V250G HNRNPR_uc010odw.2_Missense_Mutation_p.V212G|HNRNPR_uc009vql.3_Missense_Mutation_p.V111G|HNRNPR_uc001bgp.4_Missense_Mutation_p.V250G|HNRNPR_uc001bgs.4_Missense_Mutation_p.V149G|HNRNPR_uc009vqk.3_Missense_Mutation_p.V149G|HNRNPR_uc010odx.2_Missense_Mutation_p.V90G NM_005826 NP_001095867 O43390 HNRPR_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein R (HNRNPR), transcript variant 2, mRNA. 250 RRM 2. catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19) AATGGATCCAACAAAAAGTCT 0.363 PUM1 9698 broad.mit.edu 37 1 31406150 31406150 + Missense_Mutation SNP C C T TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr1:31406150C>T uc001bsi.1 - 21 3582 c.3469G>A c.(3469-3471)Ggc>Agc p.G1157S PUM1_uc001bsf.1_Missense_Mutation_p.G825S|PUM1_uc001bsh.1_Missense_Mutation_p.G1159S|PUM1_uc001bsj.1_Missense_Mutation_p.G1133S|PUM1_uc010oga.1_Missense_Mutation_p.G1015S|PUM1_uc001bsk.1_Missense_Mutation_p.G1195S|PUM1_uc010ogb.1_Missense_Mutation_p.G1098S NM_014676 NP_055491 Q14671 PUM1_HUMAN Homo sapiens pumilio homolog 1 (Drosophila) (PUM1), transcript variant 2, mRNA. 1157 PUM-HD. cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) ATGTGCTTGCCATAGGTGTAC 0.537 KCNQ4 9132 broad.mit.edu 37 1 41285881 41285881 + Silent SNP C C T TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr1:41285881C>T uc001cgh.2 + 6 1072 c.990C>T c.(988-990)caC>caT p.H330H KCNQ4_uc001cgi.2_Silent_p.H330H NM_004700 NP_004691 P56696 KCNQ4_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 4 (KCNQ4), transcript variant 1, mRNA. 330 sensory perception of sound basal plasma membrane|voltage-gated potassium channel complex central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1) 26 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.38e-17) AGGAGCAGCACCGGCAGAAGC 0.617 AMPD1 270 broad.mit.edu 37 1 115215817 115215817 + Missense_Mutation SNP G G T TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr1:115215817G>T uc001efe.2 - 15 2309 c.2261C>A c.(2260-2262)gCc>gAc p.A754D DENND2C_uc001eez.3_5'Flank|AMPD1_uc001eff.2_Missense_Mutation_p.A750D NM_000036 NP_000027 P23109 AMPD1_HUMAN Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA. 721 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 45 all_epithelial(7;7.83e-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) Adenosine monophosphate(DB00131) GCGGATTTGGGCTACATTTGT 0.398 PDE4DIP 9659 broad.mit.edu 37 1 144882550 144882550 + Missense_Mutation SNP G G A TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr1:144882550G>A uc021ouh.1 - 23 3771 c.3469C>T c.(3469-3471)Cct>Tct p.P1157S 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.P1157S|PDE4DIP_uc001elx.4_Intron|PDE4DIP_uc001elv.4_Missense_Mutation_p.P164S NM_001198834 NP_001185763 Q5VU43 MYOME_HUMAN Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA. 1157 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding 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) TGCTTCCCAGGGGAACCAACC 0.522 T PDGFRB MPD IQGAP3 128239 broad.mit.edu 37 1 156532968 156532968 + Silent SNP C C T TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr1:156532968C>T uc001fpf.3 - 7 831 c.756G>A c.(754-756)ctG>ctA p.L252L IQGAP3_uc009wsb.1_Silent_p.L209L NM_178229 NP_839943 Q86VI3 IQGA3_HUMAN Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA. 252 small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3) 75 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TGGCCTGGGCCAGCATCTCTT 0.572 KCNT2 343450 broad.mit.edu 37 1 196227421 196227421 + Missense_Mutation SNP C C A TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr1:196227421C>A uc001gtd.1 - 25 3174 c.3114G>T c.(3112-3114)caG>caT p.Q1038H KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.Q971H|KCNT2_uc001gtf.1_Missense_Mutation_p.Q1014H|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc001gth.1_Missense_Mutation_p.Q542H NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA. 1038 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 TCAGTCGCTGCTGGGTTATTT 0.468 BTAF1 9044 broad.mit.edu 37 10 93756207 93756207 + Missense_Mutation SNP G G A TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr10:93756207G>A uc001khr.3 + 23 3489 c.3391G>A c.(3391-3393)Ggt>Agt p.G1131S BTAF1_uc001kht.1_Missense_Mutation_p.G569S NM_003972 NP_003963 O14981 BTAF1_HUMAN Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA. 1131 negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6) 59 Colorectal(252;0.0846) TCGTTGTGTAGGTGTCATGAG 0.423 CYP2C19 1562 broad.mit.edu 37 10 96447958 96447958 + Missense_Mutation SNP G G A TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr10:96447958G>A uc001kjv.4 + 2 734 c.408G>A c.(406-408)atG>atA p.M136I CYP2C19_uc001kjw.4_Missense_Mutation_p.M136I|CYP2C19_uc009xus.1_Missense_Mutation_p.M1I|CYP2C19_uc010qny.2_5'UTR NM_000772 NP_000763 P33261 CP2CJ_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA. 136 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) ATTTTGGGATGGGGAAGAGGA 0.478 TDRD1 56165 broad.mit.edu 37 10 115947725 115947725 + Silent SNP A A G TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr10:115947725A>G uc001lbg.1 + 1 288 c.135A>G c.(133-135)ggA>ggG p.G45G TDRD1_uc001lbf.3_Silent_p.G36G|TDRD1_uc001lbh.1_Silent_p.G36G|TDRD1_uc001lbi.1_Silent_p.G36G NM_198795 NP_942090 Q9BXT4 TDRD1_HUMAN Homo sapiens tudor domain containing 1 (TDRD1), mRNA. 45 DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5) 48 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) GAAGTCCTGGAACACTTCCTA 0.358 KRTAP5-3 387266 broad.mit.edu 37 11 1629152 1629152 + Missense_Mutation SNP C C G TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr11:1629152C>G uc001ltw.1 - 0 542 c.464G>C c.(463-465)tGc>tCc p.C155S MOB2_uc001ltq.2_Intron NM_001012708 NP_001012726 Q6L8H2 KRA53_HUMAN Homo sapiens keratin associated protein 5-3 (KRTAP5-3), mRNA. 155 11 X 4 AA repeats of C-C-X-P. keratin filament endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 8 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) GGACTGGGAGCAGCTGGGCTT 0.627 KRTAP5-3 387266 broad.mit.edu 37 11 1629156 1629156 + Missense_Mutation SNP T T A rs75371407 TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr11:1629156T>A uc001ltw.1 - 0 538 c.460A>T c.(460-462)Agc>Tgc p.S154C MOB2_uc001ltq.2_Intron NM_001012708 NP_001012726 Q6L8H2 KRA53_HUMAN Homo sapiens keratin associated protein 5-3 (KRTAP5-3), mRNA. 154 11 X 4 AA repeats of C-C-X-P. keratin filament endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 8 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) TGGGAGCAGCTGGGCTTGCAG 0.627 OR51G1 79324 broad.mit.edu 37 11 4945317 4945317 + Missense_Mutation SNP C C T TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr11:4945317C>T uc010qyr.2 - 0 253 c.253G>A c.(253-255)Ggc>Agc p.G85S NM_001005237 NP_001005237 Q8NGK1 O51G1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA. 85 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1) 25 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) CAGAAAATGCCCAGCACAGTG 0.483 OR10A6 390093 broad.mit.edu 37 11 7949483 7949483 + Missense_Mutation SNP C C T TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr11:7949483C>T uc010rbh.2 - 0 727 c.727G>A c.(727-729)Gct>Act p.A243T NM_001004461 NP_001004461 Q8NH74 O10A6_HUMAN Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA. 243 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) GTGAGGTGAGCGGCACAGGTG 0.453 KCNA4 3739 broad.mit.edu 37 11 30033870 30033870 + Missense_Mutation SNP C C T TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr11:30033870C>T uc021qfi.1 - 0 356 c.356G>A c.(355-357)aGg>aAg p.R119K KCNA4_uc001msk.3_Missense_Mutation_p.R119K NM_002233 NP_002224 P22459 KCNA4_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA. 119 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 ACTCAGCTCCCTCAGGATCTT 0.542 EHBP1L1 254102 broad.mit.edu 37 11 65349460 65349460 + Frame_Shift_Del DEL A A - TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr11:65349460delA uc001oeo.4 + 8 1582 c.1317delA c.(1315-1317)ggafs p.G439fs NM_001099409 NP_001092879 Q8N3D4 EH1L1_HUMAN Homo sapiens EH domain binding protein 1-like 1 (EHBP1L1), mRNA. 439 central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 ACACTAAGGGACCAGAGGCGA 0.597 ODZ4 26011 broad.mit.edu 37 11 78380300 78380300 + Missense_Mutation SNP C C T TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr11:78380300C>T uc001ozl.4 - 31 7553 c.7090G>A c.(7090-7092)Ggg>Agg p.G2364R ODZ4_uc001ozk.4_Missense_Mutation_p.G589R NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA. 2364 signal transduction integral to membrane p.G2364V(1) breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 AGAGGGGTCCCGATGTTGTCA 0.483 TMEM135 65084 broad.mit.edu 37 11 86778833 86778833 + Missense_Mutation SNP C C A TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr11:86778833C>A uc001pch.3 + 1 441 c.239C>A c.(238-240)gCc>gAc p.A80D TMEM135_uc010rtt.2_5'UTR|TMEM135_uc001pci.3_Missense_Mutation_p.A80D|TMEM135_uc001pcg.2_Missense_Mutation_p.A80D NM_022918 NP_075069 Q86UB9 TM135_HUMAN Homo sapiens transmembrane protein 135 (TMEM135), transcript variant 1, mRNA. 80 integral to membrane NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 17 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) GCTAATGGGGCCTTGTATATG 0.358 MTNR1B 4544 broad.mit.edu 37 11 92715081 92715081 + Missense_Mutation SNP G G A rs8192553 byFrequency TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr11:92715081G>A uc001pdk.1 + 1 795 c.692G>A c.(691-693)cGc>cAc p.R231H NM_005959 NP_005950 P49286 MTR1B_HUMAN Homo sapiens melatonin receptor 1B (MTNR1B), mRNA. 231 R -> H (in dbSNP:rs8192553). G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission integral to plasma membrane melatonin receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 33 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) Ramelteon(DB00980) CTTCAGGCCCGCAGGAAAGCC 0.582 ITPR2 3709 broad.mit.edu 37 12 26835518 26835518 + Missense_Mutation SNP C C T TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr12:26835518C>T uc001rhg.3 - 11 1654 c.1237G>A c.(1237-1239)Gtt>Att p.V413I NM_002223 NP_002214 Q14571 ITPR2_HUMAN Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA. 413 MIR 5. activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) TTTAACATAACAGGCCTCTCT 0.388 CCNT1 904 broad.mit.edu 37 12 49086898 49086898 + Missense_Mutation SNP G G A TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr12:49086898G>A uc001rsd.4 - 8 2422 c.2099C>T c.(2098-2100)tCg>tTg p.S700L CCNT1_uc009zkz.2_Missense_Mutation_p.S415L|CCNT1_uc021qxk.1_5'Flank NM_001240 NP_001231 O60563 CCNT1_HUMAN Homo sapiens cyclin T1 (CCNT1), mRNA. 700 cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm DNA binding|protein kinase binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2) 27 GCCAGATCTCGAGGAGATTCC 0.507 ITGB7 3695 broad.mit.edu 37 12 53585372 53585372 + Missense_Mutation SNP G G A rs141610554 byFrequency TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr12:53585372G>A uc009zmv.3 - 14 2436 c.2365C>T c.(2365-2367)Cgc>Tgc p.R789C ITGB7_uc001scc.3_Missense_Mutation_p.R789C|ITGB7_uc010snz.2_Non-coding_Transcript NM_000889 NP_000880 P26010 ITB7_HUMAN Homo sapiens integrin, beta 7 (ITGB7), mRNA. 789 cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response integrin complex identical protein binding|metal ion binding|receptor activity NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TCTTGAAAGCGAGGATTGATG 0.507 LEMD3 23592 broad.mit.edu 37 12 65633734 65633734 + Silent SNP G G A TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr12:65633734G>A uc001ssl.2 + 6 1973 c.1947G>A c.(1945-1947)ctG>ctA p.L649L LEMD3_uc009zqo.2_Silent_p.L648L NM_014319 NP_055134 Q9Y2U8 MAN1_HUMAN Homo sapiens LEM domain containing 3 (LEMD3), transcript variant 1, mRNA. 649 negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway integral to nuclear inner membrane|membrane fraction DNA binding|nucleotide binding|protein binding breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 36 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0104) GTGTCGTTCTGCGTTACATGA 0.294 CCT2 10576 broad.mit.edu 37 12 69985894 69985894 + Silent SNP T T G TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr12:69985894T>G uc001svb.1 + 7 799 c.705T>G c.(703-705)gcT>gcG p.A235A CCT2_uc010stl.1_Silent_p.A188A NM_006431 NP_001185771 P78371 TCPB_HUMAN Homo sapiens chaperonin containing TCP1, subunit 2 (beta) (CCT2), transcript variant 1, mRNA. 235 'de novo' posttranslational protein folding nucleus ATP binding|unfolded protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1) 24 all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187) Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) TTGAAAATGCTAAAATTCTTA 0.294 SCARB1 949 broad.mit.edu 37 12 125294730 125294730 + Nonsense_Mutation SNP C C A TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr12:125294730C>A uc001ugp.3 - 5 1085 c.832G>T c.(832-834)Gag>Tag p.E278* SCARB1_uc001ugm.4_Nonsense_Mutation_p.E278*|SCARB1_uc001ugn.4_Nonsense_Mutation_p.E278*|SCARB1_uc010tbd.2_Nonsense_Mutation_p.E278*|SCARB1_uc001ugo.4_Nonsense_Mutation_p.E278* NM_001082959 NP_001076428 Q8WTV0 SCRB1_HUMAN Homo sapiens scavenger receptor class B, member 1 (SCARB1), transcript variant 2, mRNA. 278 adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing caveola 1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1) 17 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395) Phosphatidylserine(DB00144) CGGCAGGCCTCCGGGCTGTAG 0.552 MYO16 23026 broad.mit.edu 37 13 109792874 109792874 + Frame_Shift_Del DEL G G - TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr13:109792874delG uc010agk.2 + 31 4936 c.4314delG c.(4312-4314)ctgfs p.L1438fs MYO16_uc001vqt.1_Frame_Shift_Del_p.L1416fs NM_001198950 NP_001185879 Q9Y6X6 MYO16_HUMAN Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA. 1416 Pro-rich. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) TCGAGATGCTGGGGCACGCGG 0.736 OR4K13 390433 broad.mit.edu 37 14 20502107 20502107 + Missense_Mutation SNP G G A TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr14:20502107G>A uc010tkz.2 - 0 811 c.811C>T c.(811-813)Ctt>Ttt p.L271F NM_001004714 NP_001004714 Q8NH42 OR4KD_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA. 271 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4) 24 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) AACACAGAAAGAATTTTATCT 0.378 C14orf43 91748 broad.mit.edu 37 14 74203800 74203800 + Silent SNP G G A TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr14:74203800G>A uc010tud.1 - 1 1897 c.1650C>T c.(1648-1650)gaC>gaT p.D550D C14orf43_uc001xot.3_Silent_p.D550D|C14orf43_uc001xou.3_Silent_p.D550D|C14orf43_uc010arw.2_Non-coding_Transcript NM_194278 NP_919254 Q6PJG2 CN043_HUMAN Homo sapiens chromosome 14 open reading frame 43 (C14orf43), transcript variant 1, mRNA. 550 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(4) 37 BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115) GACCCTTCCCGTCCTCATCAA 0.602 NUDT14 256281 broad.mit.edu 37 14 105642875 105642875 + Missense_Mutation SNP A A T TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr14:105642875A>T uc010tyn.2 - 3 538 c.424T>A c.(424-426)Tac>Aac p.Y142N NUDT14_uc001yqi.3_Non-coding_Transcript NM_177533 NP_803877 O95848 NUD14_HUMAN Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 14 (NUDT14), mRNA. 142 Nudix hydrolase. cytoplasm metal ion binding|protein binding|UDP-sugar diphosphatase activity cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 14 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) ACTCACCAGTATGTGGCGACC 0.642 HNSCC(42;0.11) abParts 8755 broad.mit.edu 37 14 106360394 106360394 + Splice_Site SNP G G C TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr14:106360394G>C uc021ser.1 - 3734 c.56793_splice c.e3734+1 KIAA0125_uc001ysq.3_Intron|KIAA0125_uc001ysr.3_Intron Parts of antibodies, mostly variable regions. CAGTAGGAGGGGCCTTCACAA 0.607 TJP1 7082 broad.mit.edu 37 15 30000963 30000963 + Silent SNP G G A TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr15:30000963G>A uc001zcr.3 - 24 5125 c.4650C>T c.(4648-4650)caC>caT p.H1550H TJP1_uc010azl.3_Silent_p.H1538H|TJP1_uc001zcq.3_Silent_p.H1474H|TJP1_uc001zcs.3_Silent_p.H1470H NM_003257 NP_003248 Q07157 ZO1_HUMAN Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA. 1550 cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1) 68 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) GCAGAAGATTGTGATTGAATT 0.413 BAHD1 22893 broad.mit.edu 37 15 40750817 40750817 + Missense_Mutation SNP C C T rs144910683 TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr15:40750817C>T uc001zlu.2 + 1 225 c.154C>T c.(154-156)Cgc>Tgc p.R52C BAHD1_uc001zlt.2_Missense_Mutation_p.R52C|BAHD1_uc010bbp.1_Missense_Mutation_p.R52C|BAHD1_uc001zlv.2_Missense_Mutation_p.R52C NM_014952 NP_055767 Q8TBE0 BAHD1_HUMAN Homo sapiens bromo adjacent homology domain containing 1 (BAHD1), mRNA. 52 heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin silencing complex|chromosome chromatin binding|DNA binding|protein binding NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 28 all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08) CACAGGGCGCCGCAAGAATTA 0.632 SLCO3A1 28232 broad.mit.edu 37 15 92690225 92690225 + Silent SNP C C T TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr15:92690225C>T uc002bqx.2 + 7 1725 c.1524C>T c.(1522-1524)ggC>ggT p.G508G SLCO3A1_uc002bqy.2_Silent_p.G508G|SLCO3A1_uc010boc.1_Non-coding_Transcript|SLCO3A1_uc002bqz.1_Silent_p.G450G NM_013272 NP_037404 Q9UIG8 SO3A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA. 508 Kazal-like. 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) ATCTCACGGGCTGTGCGTGCC 0.557 SSTR5 6755 broad.mit.edu 37 16 1129429 1129429 + Silent SNP C C T TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr16:1129429C>T uc021taf.1 + 1 632 c.561C>T c.(559-561)aaC>aaT p.N187N LOC146336_uc002cko.3_5'Flank|LOC146336_uc002ckp.1_5'Flank|SSTR5_uc002ckq.3_Silent_p.N187N NM_001172560 NP_001166031 P35346 SSR5_HUMAN Homo sapiens somatostatin receptor 5 (SSTR5), transcript variant 2, mRNA. 187 negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity endometrium(2)|lung(5)|prostate(1)|skin(1) 9 Hepatocellular(780;0.00369) Octreotide(DB00104) GTACCTGCAACGCCAGCTGGC 0.692 MYH8 4626 broad.mit.edu 37 17 10295897 10295897 + Missense_Mutation SNP G G A TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr17:10295897G>A uc002gmm.2 - 37 5625 c.5530C>T c.(5530-5532)Cgg>Tgg p.R1844W AK097500_uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA. 1844 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 TCATGTTTCCGTAAACCTTTA 0.433 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling STAT3 6774 broad.mit.edu 37 17 40474479 40474479 + Missense_Mutation SNP G G A TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr17:40474479G>A uc002hzl.1 - 20 2162 c.1922C>T c.(1921-1923)aCa>aTa p.T641I STAT3_uc002hzk.1_Missense_Mutation_p.T641I|STAT3_uc002hzm.1_Missense_Mutation_p.T641I|STAT3_uc010wgh.1_Missense_Mutation_p.T543I|STAT3_uc002hzn.1_Missense_Mutation_p.T641I NM_139276 NP_644805 P40763 STAT3_HUMAN Homo sapiens signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3), transcript variant 1, mRNA. 641 SH2. cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) CTGCTGCTTTGTGTATGGTTC 0.463 Hyperimmunoglobulin E Recurrent Infection Syndrome LRRC30 339291 broad.mit.edu 37 18 7231759 7231759 + Missense_Mutation SNP T T C TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr18:7231759T>C uc010wzk.2 + 0 623 c.623T>C c.(622-624)cTg>cCg p.L208P NM_001105581 NP_001099051 A6NM36 LRC30_HUMAN Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA. 208 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 ATCCAGCACCTGGCCAGCCTG 0.562 DCC 1630 broad.mit.edu 37 18 50278484 50278484 + Missense_Mutation SNP C C T TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr18:50278484C>T uc002lfe.2 + 1 768 c.152C>T c.(151-153)aCa>aTa p.T51I DCC_uc010xdr.1_5'UTR NM_005215 NP_005206 P43146 DCC_HUMAN Homo sapiens deleted in colorectal carcinoma (DCC), mRNA. 51 Ig-like C2-type 1. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) GATGCCGTCACAATGCGGGGA 0.498 MUC16 94025 broad.mit.edu 37 19 9006685 9006685 + Missense_Mutation SNP C C T TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr19:9006685C>T uc002mkp.3 - 43 39767 c.39563G>A c.(39562-39564)gGc>gAc p.G13188D MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.G5D|MUC16_uc021uog.1_Intron NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 13190 SEA 8. 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 CTTCCTGGAGCCAGGGTGACC 0.527 CYP2A13 1553 broad.mit.edu 37 19 41600897 41600897 + Silent SNP C C T TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr19:41600897C>T uc002opt.3 + 7 1204 c.1195C>T c.(1195-1197)Ctg>Ttg p.L399L NM_000766 NP_000757 Q16696 CP2AD_HUMAN Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA. 399 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2) 42 Clomipramine(DB01242)|Nicotine(DB00184) GGGCTCCGTGCTGAGAGACCC 0.557 PSG8 440533 broad.mit.edu 37 19 43258694 43258694 + Missense_Mutation SNP C C T rs148019273 byFrequency TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr19:43258694C>T uc002ouo.2 - 4 1132 c.1034G>A c.(1033-1035)cGt>cAt p.R345H PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Non-coding_Transcript|PSG8_uc002ouh.3_Missense_Mutation_p.R345H|PSG8_uc010ein.3_Missense_Mutation_p.R223H|PSG3_uc002oun.3_Intron NM_182707 NP_874366 Q9UQ74 PSG8_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA. 345 Ig-like C2-type 3. extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) TTCTCCTGAACGGTAATAGGT 0.473 CEACAM16 388551 broad.mit.edu 37 19 45208902 45208902 + Missense_Mutation SNP G G T TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr19:45208902G>T uc010xxd.2 + 4 910 c.704G>T c.(703-705)cGc>cTc p.R235L NM_001039213 NP_001034302 A7LI12 A7LI12_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 16 (CEACAM16), mRNA. 235 endometrium(3)|large_intestine(2)|lung(3)|ovary(1) 9 Lung NSC(12;0.000698)|all_lung(12;0.002) Prostate(69;0.0376)|Ovarian(192;0.231) TCCACCACCCGCACAGGCTGC 0.612 TEAD2 8463 broad.mit.edu 37 19 49862740 49862740 + Silent SNP G G A TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr19:49862740G>A uc002pnh.3 - 2 355 c.249C>T c.(247-249)atC>atT p.I83I TEAD2_uc002png.3_Silent_p.I83I|TEAD2_uc002pni.3_Silent_p.I83I|TEAD2_uc002pnj.3_Silent_p.I83I|TEAD2_uc010yao.2_5'UTR|TEAD2_uc010emw.3_Silent_p.I83I NM_003598 NP_003589 Q15562 TEAD2_HUMAN Homo sapiens TEA domain family member 2 (TEAD2), mRNA. 83 hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 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) TGTAGCGGGCGATCAGTTCAT 0.512 MXD1 4084 broad.mit.edu 37 2 70164461 70164461 + Missense_Mutation SNP T T C TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr2:70164461T>C uc002sfy.3 + 4 703 c.413T>C c.(412-414)aTt>aCt p.I138T MXD1_uc010yqp.2_Missense_Mutation_p.I138T|MXD1_uc010yqs.2_Missense_Mutation_p.I128T|MXD1_uc010yqq.2_Missense_Mutation_p.I75T|MXD1_uc010yqr.2_Non-coding_Transcript|MXD1_uc021vix.1_5'Flank NM_002357 NP_002348 Q05195 MAD1_HUMAN Homo sapiens MAX dimerization protein 1 (MXD1), transcript variant 1, mRNA. 138 cell proliferation|multicellular organismal development mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 7 AAGCTGGGCATTGAGAGGATC 0.577 RAB11FIP5 26056 broad.mit.edu 37 2 73316366 73316366 + Missense_Mutation SNP C C T TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr2:73316366C>T uc002siu.4 - 1 750 c.509G>A c.(508-510)cGc>cAc p.R170H RAB11FIP5_uc002sit.4_Missense_Mutation_p.R92H NM_015470 NP_056285 Q9BXF6 RFIP5_HUMAN Homo sapiens RAB11 family interacting protein 5 (class I) (RAB11FIP5), mRNA. 170 protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 23 CAGGTTGTTGCGCGTGAACTG 0.532 C2orf51 200523 broad.mit.edu 37 2 88828848 88828848 + Silent SNP G G A rs148580273 TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr2:88828848G>A uc002stb.2 + 3 541 c.399G>A c.(397-399)ccG>ccA p.P133P NM_152670 NP_689883 Q96LM6 TSC21_HUMAN Homo sapiens chromosome 2 open reading frame 51 (C2orf51), mRNA. 133 nucleus large_intestine(2)|lung(11)|prostate(1)|skin(1) 15 CTGACTTTCCGTGCCTCGTGG 0.572 NMS 129521 broad.mit.edu 37 2 101089991 101089991 + Missense_Mutation SNP G G A TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr2:101089991G>A uc002tan.1 + 2 180 c.173G>A c.(172-174)cGc>cAc p.R58H NM_001011717 NP_001011717 Q5H8A3 NMS_HUMAN Homo sapiens neuromedin S (NMS), mRNA. 58 neuropeptide signaling pathway|regulation of smooth muscle contraction extracellular region p.R58S(2) breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1) 14 CCTCTTTCTCGCCAACCTAAG 0.343 TTN 7273 broad.mit.edu 37 2 179457532 179457532 + Missense_Mutation SNP G G A TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr2:179457532G>A uc021vsy.1 - 248 51835 c.51610C>T c.(51610-51612)Ccg>Tcg p.P17204S MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P10899S|TTN_uc021vta.1_Missense_Mutation_p.P10832S|TTN_uc021vtb.1_Missense_Mutation_p.P10707S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 18131 Fibronectin type-III 24. 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) ACTGGCTCCGGAACATGAGCT 0.408 FN1 2335 broad.mit.edu 37 2 216288171 216288171 + Frame_Shift_Del DEL G G - TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr2:216288171delG uc002vfa.3 - 8 1561 c.1295delC c.(1294-1296)actfs p.T432fs FN1_uc002vfc.3_Frame_Shift_Del_p.T432fs|FN1_uc002vfe.3_Frame_Shift_Del_p.T432fs|FN1_uc002vff.3_Frame_Shift_Del_p.T432fs|FN1_uc002vfg.3_Frame_Shift_Del_p.T432fs|FN1_uc002vfh.3_Frame_Shift_Del_p.T432fs|FN1_uc002vfi.3_Frame_Shift_Del_p.T432fs|FN1_uc002vfj.3_Frame_Shift_Del_p.T432fs|FN1_uc002vfb.3_Frame_Shift_Del_p.T432fs|FN1_uc002vfl.3_Frame_Shift_Del_p.T432fs NM_212482 NP_997647 P02751 FINC_HUMAN Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA. 432 Collagen-binding.|Fibronectin type-II 2. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGTGCAATCAGTGTAATTGTG 0.488 ZFAND2B 130617 broad.mit.edu 37 2 220073015 220073015 + Missense_Mutation SNP A A G TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr2:220073015A>G uc002vka.3 + 4 644 c.472A>G c.(472-474)Aca>Gca p.T158A ZFAND2B_uc010zkt.2_Missense_Mutation_p.T158A|ZFAND2B_uc010fwd.1_Missense_Mutation_p.T158A|ZFAND2B_uc002vjz.1_Missense_Mutation_p.T158A|ZFAND2B_uc002vkb.1_Missense_Mutation_p.T49A NM_138802 NP_620157 Q8WV99 ZFN2B_HUMAN Homo sapiens zinc finger, AN1-type domain 2B (ZFAND2B), mRNA. 158 endoplasmic reticulum protein binding|zinc ion binding endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1) 11 Renal(207;0.0915) Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGTGGCTTCTACAAGCACTGT 0.552 SP110 3431 broad.mit.edu 37 2 231042927 231042927 + Missense_Mutation SNP G G T TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr2:231042927G>T uc002vqg.3 - 12 1633 c.1393C>A c.(1393-1395)Ccc>Acc p.P465T SP110_uc002vqh.3_Missense_Mutation_p.P465T|SP110_uc002vqi.4_Missense_Mutation_p.P465T|SP110_uc010fxk.3_Missense_Mutation_p.P463T|SP110_uc021vxx.1_Missense_Mutation_p.P471T|SP110_uc010fxj.3_Missense_Mutation_p.P108T NM_080424 NP_536349 Q9HB58 SP110_HUMAN Homo sapiens SP110 nuclear body protein (SP110), transcript variant c, mRNA. 465 SAND. interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|signal transducer activity|zinc ion binding breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169) Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097) CAGGTCACGGGGAGCTTAGAA 0.413 BMP2 650 broad.mit.edu 37 20 6758901 6758901 + Missense_Mutation SNP A A T TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr20:6758901A>T uc002wmu.1 + 2 1141 c.356A>T c.(355-357)gAa>gTa p.E119V NM_001200 NP_001191 P12643 BMP2_HUMAN Homo sapiens bone morphogenetic protein 2 (BMP2), mRNA. 119 BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1) 13 Simvastatin(DB00641) GAATCTTTGGAAGAACTACCA 0.363 PLK1S1 55857 broad.mit.edu 37 20 21143040 21143040 + Missense_Mutation SNP G G A TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr20:21143040G>A uc002wsb.3 + 4 1067 c.934G>A c.(934-936)Gag>Aag p.E312K PLK1S1_uc010zsh.2_Missense_Mutation_p.E209K|PLK1S1_uc010zsi.2_Missense_Mutation_p.E179K|PLK1S1_uc010zsj.2_Non-coding_Transcript|BC042893_uc002wsc.3_Intron|PLK1S1_uc002wsd.3_Non-coding_Transcript NM_018474 NP_060944 Q2M2Z5 KIZ_HUMAN Homo sapiens polo-like kinase 1 substrate 1 (PLK1S1), transcript variant 1, mRNA. 312 spindle organization centrosome protein kinase binding TATTGAAGTTGAGGAAAAAAG 0.448 RYBP 23429 broad.mit.edu 37 3 72427619 72427619 + Missense_Mutation SNP C C T TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr3:72427619C>T uc003dpe.3 - 3 574 c.574G>A c.(574-576)Ggg>Agg p.G192R NM_012234 NP_036366 Q8N488 RYBP_HUMAN Homo sapiens RING1 and YY1 binding protein (RYBP), mRNA. 202 Interaction with E4TF1B.|Ser-rich. apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleoplasm DNA binding|protein binding|transcription corepressor activity|zinc ion binding prostate(1)|upper_aerodigestive_tract(1) 2 Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204) BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232) CTCTCTGACCCCGAGCTGCTC 0.512 NUDT16 131870 broad.mit.edu 37 3 131101062 131101062 + Missense_Mutation SNP C C T TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr3:131101062C>T uc003eog.2 + 1 351 c.311C>T c.(310-312)cCa>cTa p.P104L LOC339874_uc003eoc.2_5'Flank|NUDT16_uc021xeb.1_Missense_Mutation_p.P58L|NUDT16_uc021xec.1_Missense_Mutation_p.P104L|NUDT16_uc011bln.2_Missense_Mutation_p.P58L NM_152395 NP_689608 Q96DE0 NUD16_HUMAN Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 16 (NUDT16), transcript variant 2, mRNA. 104 Nudix hydrolase. nucleolus|nucleoplasm hydrolase activity|metal ion binding|RNA binding large_intestine(1)|lung(6) 7 GGGTCAGGGCCACGCGTTGTG 0.692 SPSB4 92369 broad.mit.edu 37 3 140866045 140866045 + Silent SNP G G A TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr3:140866045G>A uc003ett.3 + 2 1001 c.756G>A c.(754-756)caG>caA p.Q252Q SPSB4_uc010hum.3_3'UTR NM_080862 NP_543138 Q96A44 SPSB4_HUMAN Homo sapiens splA/ryanodine receptor domain and SOCS box containing 4 (SPSB4), mRNA. 252 SOCS box. intracellular signal transduction cytoplasm protein binding biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1) 4 TGGGCCGCCAGCGCCTGCAGG 0.617 DRD5 1816 broad.mit.edu 37 4 9783859 9783859 + Missense_Mutation SNP G G A TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr4:9783859G>A uc003gmb.4 + 0 602 c.206G>A c.(205-207)cGc>cAc p.R69H NM_000798 NP_000789 P21918 DRD5_HUMAN Homo sapiens dopamine receptor D5 (DRD5), mRNA. 69 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) GTGCGGAGCCGCCACCTGCGC 0.647 FGFBP1 9982 broad.mit.edu 37 4 15938124 15938124 + Silent SNP G G T TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr4:15938124G>T uc003gom.3 - 2 427 c.132C>A c.(130-132)ggC>ggA p.G44G FGFBP1_uc021xml.1_Silent_p.G44G NM_005130 NP_005121 Q14512 FGFP1_HUMAN Homo sapiens fibroblast growth factor binding protein 1 (FGFBP1), mRNA. 44 cell-cell signaling|negative regulation of cell proliferation|signal transduction extracellular space|plasma membrane heparin binding NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1) 10 TCTGGGTGTTGCCCAGAGTGT 0.517 RFC1 5981 broad.mit.edu 37 4 39306546 39306546 + Missense_Mutation SNP C C A TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr4:39306546C>A uc003gty.2 - 14 2141 c.2001G>T c.(1999-2001)gaG>gaT p.E667D RFC1_uc003gtx.2_Missense_Mutation_p.E666D NM_001204747 NP_001191676 P35251 RFC1_HUMAN Homo sapiens replication factor C (activator 1) 1, 145kDa (RFC1), transcript variant 2, mRNA. 667 DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 16 TGTATCCCAACTCCTAATCAA 0.433 LIMCH1 22998 broad.mit.edu 37 4 41621353 41621353 + Silent SNP G G A TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr4:41621353G>A uc003gvz.4 + 5 771 c.354G>A c.(352-354)acG>acA p.T118T LIMCH1_uc003gvt.1_Silent_p.T118T|LIMCH1_uc003gwe.4_Silent_p.T277T|LIMCH1_uc003gvu.4_Silent_p.T277T|LIMCH1_uc003gvv.4_Silent_p.T277T|LIMCH1_uc003gvw.4_Silent_p.T277T|LIMCH1_uc003gvx.4_Silent_p.T277T|LIMCH1_uc003gvy.4_Silent_p.T118T|LIMCH1_uc003gwa.4_Silent_p.T118T|LIMCH1_uc011byu.2_Silent_p.T123T|LIMCH1_uc003gwc.4_Silent_p.T123T|LIMCH1_uc003gwd.4_Silent_p.T123T|LIMCH1_uc011byv.2_Silent_p.T28T|LIMCH1_uc003gwb.1_Silent_p.T125T NM_014988 NP_055803 Q9UPQ0 LIMC1_HUMAN Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA. 277 CH. actomyosin structure organization actin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 GCAATCAGACGGCCTACGTCC 0.567 UGT2B11 10720 broad.mit.edu 37 4 70080048 70080048 + Silent SNP A A C TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr4:70080048A>C uc003heh.3 - 0 402 c.393T>G c.(391-393)gtT>gtG p.V131V AK124272_uc003hei.1_Intron NM_001073 NP_001064 O75310 UDB11_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA. 131 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 42 TCTTATTTGAAACTACATCTT 0.343 FRAS1 80144 broad.mit.edu 37 4 79295398 79295398 + Missense_Mutation SNP A A T TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr4:79295398A>T uc003hlb.2 + 24 3584 c.3144A>T c.(3142-3144)aaA>aaT p.K1048N FRAS1_uc003hkw.3_Missense_Mutation_p.K1048N NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA. 1047 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 CAAAGCACAAATGCACAGGTA 0.473 NDST4 64579 broad.mit.edu 37 4 115767016 115767016 + Missense_Mutation SNP A A G TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr4:115767016A>G uc003ibu.3 - 9 2757 c.2078T>C c.(2077-2079)cTc>cCc p.L693P NDST4_uc010imw.3_Non-coding_Transcript NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA. 693 Heparan sulfate N-sulfotransferase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) GGGGTCAATGAGGATGGTGAT 0.428 ODZ3 55714 broad.mit.edu 37 4 183658027 183658027 + Missense_Mutation SNP G G T TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr4:183658027G>T uc003ivd.1 + 15 3109 c.3034G>T c.(3034-3036)Gca>Tca p.A1012S ODZ3_uc003ive.1_Missense_Mutation_p.A418S NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA. 1012 signal transduction integral to membrane NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4) 129 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) TTCCAGAGCTGCAGGGTATAA 0.388 TRIML1 339976 broad.mit.edu 37 4 189063477 189063477 + Missense_Mutation SNP G G C TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr4:189063477G>C uc003izm.1 + 2 691 c.576G>C c.(574-576)gaG>gaC p.E192D TRIML1_uc003izn.1_5'Flank NM_178556 NP_848651 Q8N9V2 TRIML_HUMAN Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA. 192 multicellular organismal development ligase activity|zinc ion binding NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 60 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) TGAAGGAAGAGGAGCAGCTGC 0.438 G3BP1 10146 broad.mit.edu 37 5 151180343 151180343 + Missense_Mutation SNP G G T TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr5:151180343G>T uc003lun.3 + 10 1278 c.1107G>T c.(1105-1107)ttG>ttT p.L369F G3BP1_uc003lum.3_Missense_Mutation_p.L369F|G3BP1_uc011dcu.2_Missense_Mutation_p.L187F|G3BP1_uc010jhz.3_Missense_Mutation_p.L187F|G3BP1_uc003luq.3_Missense_Mutation_p.L37F NM_005754 NP_938405 Q13283 G3BP1_HUMAN Homo sapiens GTPase activating protein (SH3 domain) binding protein 1 (G3BP1), transcript variant 1, mRNA. 369 RRM. Ras protein signal transduction|transport cytosol|nucleus|plasma membrane ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2) 29 all_hematologic(541;0.0338)|Medulloblastoma(196;0.091) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) TGGTGGAGTTGCGCATTAACA 0.388 GRIA1 2890 broad.mit.edu 37 5 153030021 153030021 + Missense_Mutation SNP C C T TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr5:153030021C>T uc011dcy.2 + 3 649 c.622C>T c.(622-624)Cgg>Tgg p.R208W GRIA1_uc003lva.4_Missense_Mutation_p.R198W|GRIA1_uc003luy.4_Missense_Mutation_p.R198W|GRIA1_uc003luz.4_Missense_Mutation_p.R103W|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.R118W|GRIA1_uc011dcx.2_Missense_Mutation_p.R129W|GRIA1_uc011dcz.2_Missense_Mutation_p.R208W|GRIA1_uc010jia.1_Missense_Mutation_p.R178W NM_001114183 NP_001107655 P42261 GRIA1_HUMAN Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA. 198 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding p.R208C(2)|p.R208R(1) NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GAAAAAGGAGCGGCTGGTGGT 0.542 CCNG1 900 broad.mit.edu 37 5 162869506 162869506 + Missense_Mutation SNP C C T TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr5:162869506C>T uc003lzb.3 + 5 1057 c.823C>T c.(823-825)Cgg>Tgg p.R275W CCNG1_uc011dek.1_Missense_Mutation_p.R139W|CCNG1_uc011del.2_Missense_Mutation_p.R139W|CCNG1_uc003lzc.3_Non-coding_Transcript NM_199246 NP_954854 P51959 CCNG1_HUMAN Homo sapiens cyclin G1 (CCNG1), transcript variant 2, mRNA. 275 RQLKHSYYRITHLPTIPEMVP -> LKWSLNWIITAPKNFS EAFLHNLVLWIP (in Ref. 4; AAB03903). cell division|mitosis|regulation of cyclin-dependent protein kinase activity nucleus autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(2) 12 Renal(175;0.000281) Medulloblastoma(196;0.00853)|all_neural(177;0.0408) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164) GCGTACTGCACGGCAATTGAA 0.378 PPP1R11 6992 broad.mit.edu 37 6 30035220 30035220 + Silent SNP C C A TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr6:30035220C>A uc003npb.3 + 0 289 c.33C>A c.(31-33)acC>acA p.T11T PPP1R11_uc010jrw.3_Non-coding_Transcript|PPP1R11_uc003npc.3_Non-coding_Transcript NM_021959 NP_068778 O60927 PP1RB_HUMAN Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 11 (PPP1R11), mRNA. 11 soluble fraction protein binding|protein phosphatase inhibitor activity lung(2)|ovary(1)|prostate(1)|skin(2) 6 TGAGCGAGACCGTCACTGAGA 0.632 ENPP4 22875 broad.mit.edu 37 6 46107333 46107333 + Missense_Mutation SNP G G C TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr6:46107333G>C uc003oxy.3 + 1 272 c.13G>C c.(13-15)Gta>Cta p.V5L NM_014936 NP_055751 Q9Y6X5 ENPP4_HUMAN Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) (ENPP4), mRNA. 5 integral to membrane hydrolase activity p.L4L(1) central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 18 GAAGTTATTAGTAATACTTTT 0.343 COL9A1 1297 broad.mit.edu 37 6 71004007 71004007 + Missense_Mutation SNP C C T TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr6:71004007C>T uc003pfg.4 - 4 718 c.559G>A c.(559-561)Gtg>Atg p.V187M NM_001851 NP_001842 P20849 CO9A1_HUMAN Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA. 187 Nonhelical region (NC4).|TSP N-terminal. axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding p.V187L(2) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 CTCCTCTCCACGCCAATCATG 0.433 TTK 7272 broad.mit.edu 37 6 80741263 80741263 + Missense_Mutation SNP G G A TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr6:80741263G>A uc003pjc.3 + 13 1712 c.1601G>A c.(1600-1602)gGa>gAa p.G534E TTK_uc003pjb.4_Missense_Mutation_p.G533E NM_003318 NP_003309 P33981 TTK_HUMAN Homo sapiens TTK protein kinase (TTK), transcript variant 1, mRNA. 534 Protein kinase. mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1) 53 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) ATAGGAAGTGGAGGTTCAAGC 0.279 TMEM181 57583 broad.mit.edu 37 6 159050767 159050767 + Missense_Mutation SNP G G A TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr6:159050767G>A uc003qrm.4 + 14 1620 c.1609G>A c.(1609-1611)Gag>Aag p.E537K NM_020823 NP_065874 Q9P2C4 TM181_HUMAN Homo sapiens transmembrane protein 181 (TMEM181), mRNA. 537 pathogenesis integral to membrane toxin binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1) 22 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05) ACCACCAGCCGAGTTCTTATC 0.542 FKBP9 11328 broad.mit.edu 37 7 33044873 33044873 + Missense_Mutation SNP G G A TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr7:33044873G>A uc011kal.2 + 10 1963 c.1782G>A c.(1780-1782)atG>atA p.M594I AVL9_uc011kai.2_Intron|FKBP9_uc011kak.1_Non-coding_Transcript|FKBP9_uc003tdh.3_Missense_Mutation_p.M541I|FKBP9_uc011kam.2_Missense_Mutation_p.M309I NM_007270 NP_009201 O95302 FKBP9_HUMAN Homo sapiens FK506 binding protein 9, 63 kDa (FKBP9), mRNA. 541 protein folding endoplasmic reticulum|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 39 GBM - Glioblastoma multiforme(11;0.0156) TGAAGAATATGTTCACCAACC 0.493 STK17A 9263 broad.mit.edu 37 7 43622866 43622866 + Silent SNP C C T TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr7:43622866C>T uc003tih.3 + 0 175 c.24C>T c.(22-24)ggC>ggT p.G8G NM_004760 NP_004751 Q9UEE5 ST17A_HUMAN Homo sapiens serine/threonine kinase 17a (STK17A), mRNA. 8 apoptosis|induction of apoptosis|intracellular protein kinase cascade nucleus ATP binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2) 11 AGAAGCCAGGCAGCGGCGGCT 0.766 SLC26A5 375611 broad.mit.edu 37 7 103048353 103048353 + Missense_Mutation SNP A A T TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr7:103048353A>T uc003vbz.3 - 7 1095 c.833T>A c.(832-834)tTt>tAt p.F278Y SLC26A5_uc003vbt.2_Missense_Mutation_p.F278Y|SLC26A5_uc003vbu.2_Missense_Mutation_p.F278Y|SLC26A5_uc003vbv.2_Missense_Mutation_p.F278Y|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Non-coding_Transcript|SLC26A5_uc003vbx.3_Missense_Mutation_p.F278Y NM_198999 NP_945350 P58743 S26A5_HUMAN Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA. 278 regulation of cell shape|sensory perception of sound integral to membrane secondary active sulfate transmembrane transporter activity endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5) 43 TCTCTCATTAAACTCCTTGCC 0.468 CFTR 1080 broad.mit.edu 37 7 117306983 117306983 + Missense_Mutation SNP C C T TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr7:117306983C>T uc003vjd.3 + 26 4396 c.4264C>T c.(4264-4266)Cgg>Tgg p.R1422W CFTR_uc011knq.2_Missense_Mutation_p.R828W NM_000492 NP_000483 P13569 CFTR_HUMAN Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA. 1422 ABC transporter 2. 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|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain 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) GAACAAAGTGCGGCAGTACGA 0.552 Cystic Fibrosis KIAA1549 57670 broad.mit.edu 37 7 138546043 138546043 + Missense_Mutation SNP G G C TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr7:138546043G>C uc011kql.2 - 15 5138 c.5089C>G c.(5089-5091)Ctc>Gtc p.L1697V KIAA1549_uc011kqi.2_Missense_Mutation_p.L481V|KIAA1549_uc011kqk.2_Missense_Mutation_p.L481V|KIAA1549_uc011kqj.2_Missense_Mutation_p.L1697V NM_001164665 NP_001158137 Q9HCM3 K1549_HUMAN Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA. 1697 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 GGGGCCACGAGGGCAAAGGCG 0.697 O BRAF pilocytic astrocytoma PARP12 64761 broad.mit.edu 37 7 139727128 139727128 + Missense_Mutation SNP C C A TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr7:139727128C>A uc003vvl.1 - 9 2450 c.1576G>T c.(1576-1578)Gtt>Ttt p.V526F PARP12_uc010lnf.1_Non-coding_Transcript NM_022750 NP_073587 Q9H0J9 PAR12_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA. 526 PARP catalytic. nucleus NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1) 19 Melanoma(164;0.0142) ATCTTCTGAACAAAGTAGAAA 0.512 OR2A14 135941 broad.mit.edu 37 7 143826811 143826811 + Silent SNP C C T TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr7:143826811C>T uc011kua.2 + 0 606 c.606C>T c.(604-606)tgC>tgT p.C202C NM_001001659 NP_001001659 Q96R47 O2A14_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 14 (OR2A14), mRNA. 202 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(17)|skin(1) 22 Melanoma(164;0.0783) TTGCAGCCTGCGTGTTCATCC 0.577 CNTNAP2 26047 broad.mit.edu 37 7 147092850 147092850 + Missense_Mutation SNP G G C TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr7:147092850G>C uc003weu.2 + 9 2164 c.1648G>C c.(1648-1650)Gac>Cac p.D550H MIR548I4_uc022aoo.1_Intron NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA. 550 Laminin G-like 2. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding p.D550N(2) NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TGTCAGCATTGACATGTGTGC 0.428 HNSCC(39;0.1) DLC1 10395 broad.mit.edu 37 8 13251148 13251148 + Nonsense_Mutation SNP G G A TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr8:13251148G>A uc003wwm.2 - 3 1672 c.1228C>T c.(1228-1230)Cga>Tga p.R410* DLC1_uc003wwn.3_Nonsense_Mutation_p.R410*|DLC1_uc011kxy.2_Nonsense_Mutation_p.R410* NM_182643 NP_872584 Q96QB1 RHG07_HUMAN Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA. 410 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding p.R410L(4)|p.R410*(3) NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 AAATTTACTCGTGTCTGATTT 0.423 MTUS1 57509 broad.mit.edu 37 8 17573333 17573333 + Missense_Mutation SNP A A G TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr8:17573333A>G uc003wxv.3 - 4 3001 c.2527T>C c.(2527-2529)Tat>Cat p.Y843H MTUS1_uc003wxt.3_Missense_Mutation_p.Y90H|MTUS1_uc011kyg.2_5'UTR|MTUS1_uc010lsy.3_Non-coding_Transcript|MTUS1_uc003wxw.3_Missense_Mutation_p.Y789H NM_001001924 NP_001001924 Q9ULD2 MTUS1_HUMAN Homo sapiens microtubule associated tumor suppressor 1 (MTUS1), transcript variant 1, mRNA. 843 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1) 36 Colorectal(111;0.0778) GGCTTCAAATAAAAGGATCCT 0.428 ATAD2 29028 broad.mit.edu 37 8 124382139 124382139 + Missense_Mutation SNP C C T TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr8:124382139C>T uc003yqh.4 - 6 961 c.853G>A c.(853-855)Gat>Aat p.D285N ATAD2_uc011lii.2_Missense_Mutation_p.D76N|ATAD2_uc003yqi.4_Non-coding_Transcript|ATAD2_uc003yqj.3_Missense_Mutation_p.D285N NM_014109 NP_054828 Q6PL18 ATAD2_HUMAN Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA. 285 Asp-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) tcttctccatcttcttcatct 0.358 FREM1 158326 broad.mit.edu 37 9 14789086 14789086 + Silent SNP G G A TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr9:14789086G>A uc003zlm.3 - 23 4824 c.4008C>T c.(4006-4008)tcC>tcT p.S1336S FREM1_uc010mic.3_Intron NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA. 1336 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) TCATGCCAGGGGAGAGAGGAA 0.493 TEK 7010 broad.mit.edu 37 9 27205000 27205000 + Silent SNP G G A TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr9:27205000G>A uc011lno.2 + 12 2614 c.2172G>A c.(2170-2172)ctG>ctA p.L724L TEK_uc003zqi.4_Silent_p.L767L|TEK_uc011lnp.2_Silent_p.L620L|TEK_uc003zqj.1_Silent_p.L701L NM_000459 NP_000450 Q02763 TIE2_HUMAN Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA. 767 Fibronectin type-III 3. A -> T (in dbSNP:rs4631561). angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity p.P723T(1) breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3) 15 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) TGGCCTTTCTGATCATATTGC 0.517 UBAP1 51271 broad.mit.edu 37 9 34234331 34234331 + Frame_Shift_Del DEL A A - TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr9:34234331delA uc022bfy.1 + 3 550 c.152delA c.(151-153)gaafs p.E51fs UBAP1_uc010mka.2_Intron|UBAP1_uc003zty.3_Frame_Shift_Del_p.E51fs|UBAP1_uc022bfz.1_Frame_Shift_Del_p.E51fs|UBAP1_uc003ztx.3_Frame_Shift_Del_p.E51fs|UBAP1_uc011loj.2_Frame_Shift_Del_p.E115fs|UBAP1_uc011loi.2_Intron|KIF24_uc010mkb.3_Intron|UBAP1_uc003ztz.3_Frame_Shift_Del_p.E51fs NM_001171203 NP_057609 Q9NZ09 UBAP1_HUMAN Homo sapiens ubiquitin associated protein 1 (UBAP1), transcript variant 2, mRNA. 51 UMA. cytoplasm endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1) 13 LUSC - Lung squamous cell carcinoma(29;0.00272) GTTGTCAGAGAAGTACAGGTA 0.338 VPS13A 23230 broad.mit.edu 37 9 79985216 79985216 + Missense_Mutation SNP T T C TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chr9:79985216T>C uc004akr.3 + 63 8971 c.8711T>C c.(8710-8712)cTa>cCa p.L2904P VPS13A_uc004akp.4_Missense_Mutation_p.L2904P|VPS13A_uc004akq.4_Missense_Mutation_p.L2904P|VPS13A_uc004aks.3_Missense_Mutation_p.L2865P NM_033305 NP_150648 Q96RL7 VP13A_HUMAN Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA. 2904 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 GGAATGGCACTAGGACTTAAG 0.383 FOXR2 139628 broad.mit.edu 37 X 55650313 55650313 + Missense_Mutation SNP C C T TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chrX:55650313C>T uc004duo.3 + 0 481 c.169C>T c.(169-171)Cca>Tca p.P57S NM_198451 NP_940853 Q6PJQ5 FOXR2_HUMAN Homo sapiens forkhead box R2 (FOXR2), mRNA. 57 embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|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 biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 19 AATGAAGCCCCCAGAAATGCC 0.517 YIPF6 286451 broad.mit.edu 37 X 67742720 67742720 + Missense_Mutation SNP C C A TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chrX:67742720C>A uc004dwz.3 + 5 838 c.553C>A c.(553-555)Ctt>Att p.L185I YIPF6_uc011mph.2_Missense_Mutation_p.L142I NM_173834 NP_776195 Q96EC8 YIPF6_HUMAN Homo sapiens Yip1 domain family, member 6 (YIPF6), transcript variant A, mRNA. 185 endoplasmic reticulum|integral to membrane cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1) 7 CATGGTTCGGCTTTTTGTGGT 0.408 FAM199X 139231 broad.mit.edu 37 X 103434406 103434406 + Missense_Mutation SNP T T C TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chrX:103434406T>C uc004elw.3 + 5 1425 c.1114T>C c.(1114-1116)Tcc>Ccc p.S372P FAM199X_uc004elx.3_Missense_Mutation_p.S146P NM_207318 NP_997201 Q6PEV8 F199X_HUMAN Homo sapiens family with sequence similarity 199, X-linked (FAM199X), mRNA. 372 breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1) 11 AGAGGTGCTGTCCTTGAAAGT 0.473 COL4A5 1287 broad.mit.edu 37 X 107911614 107911614 + Missense_Mutation SNP G G A rs104886391 TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chrX:107911614G>A uc022ccg.1 + 40 3872 c.3670G>A c.(3670-3672)Gaa>Aaa p.E1224K COL4A5_uc004enz.1_Missense_Mutation_p.E1224K NM_033380 NP_203699 P29400 CO4A5_HUMAN Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA. 1224 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 TCCAAAGGGCGAACCAGGCTT 0.532 Alport syndrome with Diffuse Leiomyomatosis ZNF275 10838 broad.mit.edu 37 X 152613030 152613030 + Missense_Mutation SNP C C T TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chrX:152613030C>T uc011myn.2 + 1 1600 c.698C>T c.(697-699)cCc>cTc p.P233L ZNF275_uc004fhg.2_Missense_Mutation_p.P296L|ZNF275_uc022cht.1_Missense_Mutation_p.P233L|ZNF275_uc022chu.1_5'Flank NM_001080485 NP_001073954 A6NFS0 A6NFS0_HUMAN Homo sapiens zinc finger protein 275 (ZNF275), mRNA. 296 intracellular nucleic acid binding|zinc ion binding endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 16 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TACGGGTGTCCCCACTGCGGC 0.682 SLC10A3 8273 broad.mit.edu 37 X 153716308 153716308 + Silent SNP C C A TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 796f5741-3b2d-46e5-b74f-e5a76604a401 acb44b8b-11f0-4e02-bc40-f96205ac66f9 g.chrX:153716308C>A uc022cig.1 - 0 972 c.972G>T c.(970-972)ctG>ctT p.L324L UBL4A_uc004flo.3_5'Flank|SLC10A3_uc004flr.3_Silent_p.L295L|SLC10A3_uc004flq.3_Silent_p.L324L|SLC10A3_uc004flp.3_Silent_p.L324L NM_019848 NP_062822 P09131 P3_HUMAN Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 3 (SLC10A3), transcript variant 1, mRNA. 324 organic anion transport integral to membrane bile acid:sodium symporter activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GCAGGGTCCCCAGGATCTTGG 0.607