Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut COL4A3 1285 broad.mit.edu 37 2 228157946 228157946 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr2:228157946G>A uc002vom.2 + 37 3412 c.3250G>A c.(3250-3252)Gaa>Aaa p.E1084K BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron NM_000091 NP_000082 Q01955 CO4A3_HUMAN Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA. 1084 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity p.G1083E(1) NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) AAAGAAAGGAGAAATGGGGCA 0.507000 30 5 0 0 1 0 0 MTTP 4547 broad.mit.edu 37 4 100504674 100504674 + Splice_Site SNP G T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr4:100504674G>T uc011cej.2 + 3 487 c.474_splice c.e3+1 p.K158_splice MTTP_uc003hvc.4_Splice_Site_p.K131_splice|MTTP_uc003hvb.3_Missense_Mutation_p.K131N NM_000253 NP_000244 P55157 MTP_HUMAN Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA. 131 Vitellogenin. lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1) 57 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) TCCATGGAAAGGTAAAGGGGC 0.363000 48 4 0.00198382 0.0020023 1 1 0 UROC1 131669 broad.mit.edu 37 3 126202263 126202263 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr3:126202263C>T uc010hsi.2 - 19 2073 c.2019G>A c.(2017-2019)ccG>ccA p.P673P UROC1_uc003eiz.2_Silent_p.P613P NM_001165974 NP_001159446 Q96N76 HUTU_HUMAN Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA. 613 histidine catabolic process cytosol urocanate hydratase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1) 39 GBM - Glioblastoma multiforme(114;0.17) CCTCGGCCTCCGGGGTACCGT 0.622000 51 12 0 0 1 0 0 PAX1 5075 broad.mit.edu 37 20 21687255 21687255 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr20:21687255G>A uc002wsj.2 + 1 520 c.466G>A c.(466-468)Gag>Aag p.E156K PAX1_uc010zsl.2_Missense_Mutation_p.E156K|PAX1_uc010zsm.2_Missense_Mutation_p.E132K NM_006192 NP_006183 P15863 PAX1_HUMAN Homo sapiens paired box 1 (PAX1), mRNA. 156 Paired. regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding p.E62K(1) autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 38 GCGCTACAACGAGACCGGCTC 0.652000 119 12 0 0 1 0 0 TRIM56 81844 broad.mit.edu 37 7 100731199 100731199 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr7:100731199C>T uc003uxq.3 + 2 837 c.606C>T c.(604-606)tgC>tgT p.C202C TRIM56_uc003uxr.3_Silent_p.C202C|TRIM56_uc022aiw.1_Silent_p.C202C NM_030961 NP_112223 Q9BRZ2 TRI56_HUMAN Homo sapiens tripartite motif containing 56 (TRIM56), mRNA. 202 defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon cytoplasm ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Lung NSC(181;0.136)|all_lung(186;0.182) ACCACCCCTGCCTGCCTCTGG 0.697000 20 3 0 0 1 0 0 FGL1 2267 broad.mit.edu 37 8 17743002 17743002 + Splice_Site SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr8:17743002G>A uc003wye.3 - 4 879 c.213_splice c.e4+1 p.S71_splice FGL1_uc003wxx.3_Splice_Site_p.S21_splice|FGL1_uc003wxy.3_Splice_Site_p.S21_splice|FGL1_uc003wya.3_Splice_Site_p.S21_splice|FGL1_uc003wyb.3_Splice_Site_p.S21_splice NM_201553 NP_963847 Q08830 FGL1_HUMAN Homo sapiens fibrinogen-like 1 (FGL1), transcript variant 4, mRNA. 21 signal transduction fibrinogen complex receptor binding p.S21L(1) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4) 13 Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215) GAAGCTTACCGAAATTTCCCT 0.358000 44 11 0 0 1 0 0 HCLS1 3059 broad.mit.edu 37 3 121351304 121351304 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr3:121351304G>A uc003eeh.4 - 11 1240 c.1115C>T c.(1114-1116)cCc>cTc p.P372L HCLS1_uc011bjj.2_Missense_Mutation_p.P335L|HCLS1_uc011bjk.1_Non-coding_Transcript NM_005335 NP_005326 P14317 HCLS1_HUMAN Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA. 372 erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GBM - Glioblastoma multiforme(114;0.0912) ctcaggctcgggctcaggctc 0.607000 199 78 0 0 1 0 0 ZDHHC4 55146 broad.mit.edu 37 7 6624812 6624812 + Missense_Mutation SNP T G G TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr7:6624812T>G uc003sqi.3 + 7 1020 c.662T>G c.(661-663)gTg>gGg p.V221G ZDHHC4_uc003sql.3_Missense_Mutation_p.V221G|ZDHHC4_uc003sqj.3_Missense_Mutation_p.V221G|ZDHHC4_uc003sqh.3_Missense_Mutation_p.V221G NM_001134388 NP_060576 Q9NPG8 ZDHC4_HUMAN Homo sapiens zinc finger, DHHC-type containing 4 (ZDHHC4), transcript variant 2, mRNA. 221 integral to membrane acyltransferase activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.1) CACTTGGTGGTGATGTCAGAT 0.488000 50 31 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43821242 43821242 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr15:43821242C>T uc001zrt.3 + 3 8038 c.7571C>T c.(7570-7572)tCc>tTc p.S2524F NM_002373 NP_002364 P78559 MAP1A_HUMAN Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA. 2524 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) GAGTGTCCGTCCATCACAGCT 0.577000 118 62 0 0 1 0 0 GPR153 387509 broad.mit.edu 37 1 6311561 6311561 + Silent SNP G A A rs148652706 TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:6311561G>A uc001amp.2 - 3 1076 c.816C>T c.(814-816)gaC>gaT p.D272D NM_207370 NP_997253 Q6NV75 GP153_HUMAN Homo sapiens G protein-coupled receptor 153 (GPR153), mRNA. 272 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1) 14 Ovarian(185;0.0634) all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246) GCGCTGAGGCGTCGGCCCGCA 0.701000 23 13 0 0 1 0 0 IL1RAPL2 26280 broad.mit.edu 37 X 104999313 104999313 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chrX:104999313C>T uc004elz.1 + 9 2091 c.1335C>T c.(1333-1335)atC>atT p.I445I NM_017416 NP_059112 Q9NP60 IRPL2_HUMAN Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA. 445 TIR. central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 AACTCTTCATCCCAGAAAGAG 0.373000 48 18 0 0 1 0 0 GPR39 2863 broad.mit.edu 37 2 133403025 133403025 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr2:133403025G>A uc002ttl.3 + 1 1677 c.1208G>A c.(1207-1209)aGg>aAg p.R403K LYPD1_uc002ttm.4_3'UTR|LYPD1_uc002ttn.3_3'UTR|LYPD1_uc002tto.3_3'UTR NM_001508 NP_001499 O43194 GPR39_HUMAN Homo sapiens G protein-coupled receptor 39 (GPR39), mRNA. 403 integral to plasma membrane G-protein coupled receptor activity|metal ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TCCTCTGCAAGGAGAACTGAG 0.597000 54 15 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13715825 13715825 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr12:13715825C>T uc001rbt.2 - 12 4526 c.4347G>A c.(4345-4347)ggG>ggA p.G1449G NM_000834 NP_000825 Q13224 NMDE2_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA. 1449 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding p.G1449E(1) NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TGGACTGGTTCCCTATACAGA 0.547000 103 38 0 0 1 0 0 PTPRA 5786 broad.mit.edu 37 20 3005129 3005129 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr20:3005129C>T uc010zqd.2 + 15 1826 c.1509C>T c.(1507-1509)gtC>gtT p.V503V PTPRA_uc002whj.3_Silent_p.V492V|PTPRA_uc002whk.3_Silent_p.V483V|PTPRA_uc002whl.3_Silent_p.V483V|PTPRA_uc002whm.3_Silent_p.V259V|PTPRA_uc002whn.3_Silent_p.V483V|PTPRA_uc002who.3_Silent_p.V155V NM_002836 NP_002827 P18433 PTPRA_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, A (PTPRA), transcript variant 1, mRNA. 492 axon guidance|protein phosphorylation integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 TGCAGTATGTCTTCATATACC 0.428000 162 28 0 0 1 0 0 POU2F3 25833 broad.mit.edu 37 11 120169026 120169026 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr11:120169026C>T uc021qrk.1 + 3 225 c.191C>T c.(190-192)cCa>cTa p.P64L POU2F3_uc001pxc.3_Missense_Mutation_p.P62L|POU2F3_uc010rzk.2_5'UTR|POU2F3_uc010rzl.2_5'UTR NM_001244682 NP_001231611 Q9UKI9 PO2F3_HUMAN Homo sapiens POU class 2 homeobox 3 (POU2F3), transcript variant 2, mRNA. 62 negative regulation by host of viral transcription cytoplasm sequence-specific DNA binding large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1) 17 Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;6.85e-06) TCCCATCGGCCATGCCACCTG 0.547000 139 64 0 0 1 0 0 BRPF3 27154 broad.mit.edu 37 6 36169300 36169300 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr6:36169300C>T uc003olv.4 + 1 1425 c.1201C>T c.(1201-1203)Cct>Tct p.P401S BRPF3_uc010jwb.3_Missense_Mutation_p.P401S|BRPF3_uc011dtj.2_Non-coding_Transcript|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Missense_Mutation_p.P401S NM_015695 NP_056510 Q9ULD4 BRPF3_HUMAN Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA. 401 histone H3 acetylation|platelet activation|platelet degranulation MOZ/MORF histone acetyltransferase complex|cytosol|extracellular region protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 40 GGGCGACTCCCCTAGAAGCAT 0.577000 21 5 0 0 1 0 0 C20orf26 26074 broad.mit.edu 37 20 20243646 20243646 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr20:20243646G>A uc002wru.3 + 20 2489 c.2375G>A c.(2374-2376)aGg>aAg p.R792K C20orf26_uc010zse.2_Missense_Mutation_p.R772K|C20orf26_uc002wrw.3_Non-coding_Transcript|C20orf26_uc002wrv.3_Missense_Mutation_p.R148K NM_015585 NP_056400 Q8NHU2 CT026_HUMAN Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA. 792 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) CTGACAAACAGGGAGGTTCCC 0.463000 101 16 0 0 1 0 0 SNCG 6623 broad.mit.edu 37 10 88718556 88718556 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr10:88718556G>A uc001keb.2 + 0 269 c.102G>A c.(100-102)aaG>aaA p.K34K MMRN2_uc001kea.3_5'Flank|MMRN2_uc010qmn.2_5'Flank|MMRN2_uc009xtb.2_5'Flank NM_003087 NP_003078 O76070 SYUG_HUMAN Homo sapiens synuclein, gamma (breast cancer-specific protein 1) (SNCG), mRNA. 34 4 X 11 AA tandem repeats of [EGSA]-K-T-K- [EQ]-[GQ]-V-X(4). microtubule organizing center|perinuclear region of cytoplasm|spindle protein binding endometrium(1)|skin(1) 2 AGAAGACCAAGGAGGGGGTCA 0.592000 44 9 0 0 1 0 0 TMEM132D 121256 broad.mit.edu 37 12 129563084 129563084 + Missense_Mutation SNP T C C TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr12:129563084T>C uc009zyl.1 - 7 2438 c.2110A>G c.(2110-2112)Aaa>Gaa p.K704E TMEM132D_uc001uia.2_Missense_Mutation_p.K242E NM_133448 NP_597705 Q14C87 T132D_HUMAN Homo sapiens transmembrane protein 132D (TMEM132D), mRNA. 704 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) CATACCTGTTTTGGCCTCTGC 0.592000 112 7 0 0 1 0 0 CUL7 9820 broad.mit.edu 37 6 43013087 43013087 + Silent SNP C A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr6:43013087C>A uc003otq.3 - 14 3248 c.2916G>T c.(2914-2916)acG>acT p.T972T CUL7_uc010jyg.3_Silent_p.T251T|CUL7_uc011dvb.2_Silent_p.T1056T|KLC4_uc003otr.1_Intron NM_014780 NP_055595 Q14999 CUL7_HUMAN Homo sapiens cullin 7 (CUL7), transcript variant 2, mRNA. 972 DOC. interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis anaphase-promoting complex|mitochondrion ubiquitin protein ligase binding p.T972M(1) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 49 all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) CTGGCCAGAACGTGGGCTTGG 0.592000 107 10 9.70103e-10 1.0009e-09 1 1 0 HNF4A 3172 broad.mit.edu 37 20 43042383 43042383 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr20:43042383G>A uc002xma.3 + 3 524 c.435G>A c.(433-435)gaG>gaA p.E145E HNF4A_uc002xlt.3_Silent_p.E123E|HNF4A_uc002xlu.3_Silent_p.E123E|HNF4A_uc002xlv.3_Silent_p.E123E|HNF4A_uc002xly.3_Silent_p.E145E|HNF4A_uc010ggq.3_Silent_p.E138E|HNF4A_uc002xlz.3_Silent_p.E145E NM_000457 NP_000448 P41235 HNF4A_HUMAN Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA. 145 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 34 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) CAAGCTATGAGGACAGCAGCC 0.632000 33 6 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137620554 137620554 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr9:137620554C>T uc004cfe.3 + 5 1207 c.825C>T c.(823-825)taC>taT p.Y275Y NM_000093 NP_000084 P20908 CO5A1_HUMAN Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA. 275 Nonhelical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CCTATTACTACGAATACCCCT 0.607000 114 56 0 0 1 0 0 SBK1 388228 broad.mit.edu 37 16 28331720 28331720 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr16:28331720C>T uc002dpd.3 + 3 1542 c.753C>T c.(751-753)ttC>ttT p.F251F NM_001024401 NP_001019572 Q52WX2 SBK1_HUMAN Homo sapiens SH3-binding domain kinase 1 (SBK1), mRNA. 251 Protein kinase. cytoplasm ATP binding|protein serine/threonine kinase activity kidney(1)|lung(3)|ovary(1) 5 CCGGCAACTTCCCGTGGGAGG 0.736000 38 12 0 0 1 0 0 IMPDH1 3614 broad.mit.edu 37 7 128034345 128034345 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr7:128034345G>A uc011kol.1 - 12 1616 c.1510C>T c.(1510-1512)Cat>Tat p.H504Y IMPDH1_uc011kom.1_Missense_Mutation_p.H499Y|IMPDH1_uc003vmt.2_Missense_Mutation_p.H479Y|IMPDH1_uc003vmu.2_Missense_Mutation_p.H589Y|IMPDH1_uc003vmx.2_Missense_Mutation_p.H512Y|IMPDH1_uc003vmy.2_Missense_Mutation_p.H520Y|IMPDH1_uc003vmw.2_Missense_Mutation_p.H579Y|IMPDH1_uc011kon.1_Missense_Mutation_p.H556Y|IMPDH1_uc003vmv.2_Missense_Mutation_p.H553Y|DQ596753_uc022akz.1_5'Flank|DQ595173_uc022ala.1_5'Flank NM_001142573 NP_001136045 P20839 IMDH1_HUMAN Homo sapiens IMP (inosine 5'-monophosphate) dehydrogenase 1 (IMPDH1), transcript variant 5, mRNA. 504 GMP biosynthetic process|purine base metabolic process cytosol|nucleus DNA binding|IMP dehydrogenase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3) 22 Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352) TGCAGGCCATGGACACCACCC 0.582000 31 22 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256530 115256530 + Missense_Mutation SNP G T T rs121913254 TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:115256530G>T uc009wgu.3 - 2 435 c.181C>A c.(181-183)Caa>Aaa p.Q61K NM_002524 NP_002515 P01111 RASN_HUMAN Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA. 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-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) TACTCTTCTTGTCCAGCTGTA 0.458000 Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 78 71 1.38705e-31 1.46124e-31 1 1 0 FAM55D 54827 broad.mit.edu 37 11 114453573 114453573 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr11:114453573G>A uc001ppc.3 - 2 448 c.267C>T c.(265-267)acC>acT p.T89T FAM55D_uc001ppd.3_5'UTR NM_001077639 NP_001071107 Q6UWF7 FA55D_HUMAN Homo sapiens family with sequence similarity 55, member D (FAM55D), transcript variant 1, mRNA. 89 extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906) BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938) TGTTCACGTGGGTGAAAGGTC 0.502000 89 29 0 0 1 0 0 DDO 8528 broad.mit.edu 37 6 110726086 110726086 + Nonsense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr6:110726086G>A uc003puc.3 - 3 437 c.433C>T c.(433-435)Cga>Tga p.R145* METTL24_uc003pub.2_Intron|DDO_uc003pud.3_Intron NM_003649 NP_003640 Q99489 OXDD_HUMAN Homo sapiens D-aspartate oxidase (DDO), transcript variant 1, mRNA. 117 aspartate catabolic process peroxisome D-amino-acid oxidase activity|D-aspartate oxidase activity|binding p.R145*(2) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3) 24 all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327) all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046) GTCATCTTTCGAAATCCCAGA 0.463000 30 24 0 0 1 0 0 OR6C1 390321 broad.mit.edu 37 12 55714842 55714842 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr12:55714842C>T uc010spi.2 + 0 459 c.459C>T c.(457-459)atC>atT p.I153I NM_001005182 NP_001005182 Q96RD1 OR6C1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA. 153 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 25 CATTCTTAATCATATTCCCAG 0.393000 23 3 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75875285 75875285 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr6:75875285G>A uc021zbv.1 - 12 2956 c.2921C>T c.(2920-2922)tCa>tTa p.S974L COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Missense_Mutation_p.S974L|COL12A1_uc003pht.3_Intron NM_004370 NP_004361 Q99715 COCA1_HUMAN Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA. 974 Fibronectin type-III 6. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 GGCAAATACTGAAATTCTGTA 0.423000 77 38 0 0 1 0 0 PLCB2 5330 broad.mit.edu 37 15 40588498 40588498 + Splice_Site SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr15:40588498G>A uc001zld.3 - 16 1997 c.1696_splice c.e16+1 p.Q566_splice PLCB2_uc010bbo.3_Splice_Site_p.Q562_splice|PLCB2_uc010ucm.2_Splice_Site_p.Q566_splice NM_004573 NP_004564 Q00722 PLCB2_HUMAN Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA. 566 PI-PLC Y-box. activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3) 39 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) CTAACTTACGGGCAGAGAACT 0.537000 14 5 0 0 1 0 0 DIAPH3 81624 broad.mit.edu 37 13 60413502 60413502 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr13:60413502G>A uc001vht.3 - 22 3037 c.2818C>T c.(2818-2820)Ccc>Tcc p.P940S DIAPH3_uc001vhu.3_Missense_Mutation_p.P677S NM_001042517 NP_001035982 Q9NSV4 DIAP3_HUMAN Homo sapiens diaphanous homolog 3 (Drosophila) (DIAPH3), transcript variant 1, mRNA. 940 FH2. actin cytoskeleton organization Rho GTPase binding|actin binding p.P940S(2) cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) TCAGGAGGGGGAAAGGTTTCC 0.383000 41 3 0 0 1 0 0 GAB1 2549 broad.mit.edu 37 4 144361297 144361297 + Silent SNP A G G TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr4:144361297A>G uc003ijd.3 + 5 1706 c.1347A>G c.(1345-1347)ccA>ccG p.P449P GAB1_uc003ije.3_Silent_p.P449P|GAB1_uc011chq.2_Silent_p.P346P NM_207123 NP_997006 Q13480 GAB1_HUMAN Homo sapiens GRB2-associated binding protein 1 (GAB1), transcript variant 1, mRNA. 449 Pro-rich. cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway cytosol SH3/SH2 adaptor activity breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 30 all_hematologic(180;0.158) ATTACGTCCCAATGAATCCCA 0.343000 61 37 0 0 1 0 0 EMID1 129080 broad.mit.edu 37 22 29611579 29611579 + Nonsense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr22:29611579G>A uc003aem.3 + 2 354 c.279G>A c.(277-279)tgG>tgA p.W93* EMID1_uc003aen.3_Nonsense_Mutation_p.W93* NM_133455 NP_597712 Q96A84 EMID1_HUMAN Homo sapiens EMI domain containing 1 (EMID1), mRNA. 93 EMI. collagen NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3) 12 CCCGTGAGTGGAGGTGCTGCC 0.632000 69 25 0 0 1 0 0 TTC40 54777 broad.mit.edu 37 10 134622165 134622165 + Missense_Mutation SNP G T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr10:134622165G>T uc021qbc.1 - 57 8009 c.7908C>A c.(7906-7908)ttC>ttA p.F2636L NM_001200049 NP_001186978 Q8IYW2 CJ092_HUMAN Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA. 797 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 agaggcccaggaaggggagag 0.706000 10 4 0.00909568 0.00916619 1 1 0 MUC16 94025 broad.mit.edu 37 19 9058106 9058106 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr19:9058106G>A uc002mkp.3 - 2 29544 c.29340C>T c.(29338-29340)acC>acT p.T9780T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 9782 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GAGATGAACTGGTTTTAGGCT 0.473000 39 14 0 0 1 0 0 GPR4 2828 broad.mit.edu 37 19 46094357 46094357 + Nonsense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr19:46094357C>T uc002pcm.3 - 1 1713 c.768G>A c.(766-768)tgG>tgA p.W256* OPA3_uc010xxk.2_Intron|GPR4_uc021uvw.1_Nonsense_Mutation_p.W256* NM_005282 NP_005273 P46093 GPR4_HUMAN Homo sapiens G protein-coupled receptor 4 (GPR4), mRNA. 256 integral to plasma membrane G-protein coupled receptor activity p.P255H(1) breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223) AGCCGCAGTCCCAGGGGCGGC 0.632000 93 4 0 0 1 0 0 MED12L 116931 broad.mit.edu 37 3 150877744 150877744 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr3:150877744G>A uc003eyp.3 + 6 1092 c.963G>A c.(961-963)atG>atA p.M321I MED12L_uc011bnz.2_Intron|MED12L_uc003eyn.3_Missense_Mutation_p.M321I|MED12L_uc003eyo.3_Missense_Mutation_p.M321I NM_053002 NP_443728 Q86YW9 MD12L_HUMAN Homo sapiens mediator complex subunit 12-like (MED12L), mRNA. 321 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex p.M321I(2) NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CCCACATGATGATAGGACCAA 0.607000 139 52 0 0 1 0 0 KLF4 9314 broad.mit.edu 37 9 110250264 110250264 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr9:110250264C>T uc004bdh.3 - 2 1005 c.384G>A c.(382-384)tcG>tcA p.S128S KLF4_uc004bdf.2_Silent_p.S87S|KLF4_uc022blk.1_Intron|KLF4_uc004bdg.3_Silent_p.S137S NM_004235 NP_004226 O43474 KLF4_HUMAN Homo sapiens Kruppel-like factor 4 (gut) (KLF4), mRNA. 137 Ser-rich. fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter nucleus RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2) 16 GGCCGCTGCTCGACGGCGACG 0.697000 11 5 0 0 1 0 0 OR4F17 81099 broad.mit.edu 37 19 110764 110764 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr19:110764G>A uc002loc.1 + 0 86 c.86G>A c.(85-87)gGa>gAa p.G29E OR4F17_uc002lob.1_Missense_Mutation_p.G29E NM_001005240 NP_001005240 Q8NGA8 O4F17_HUMAN Homo sapiens olfactory receptor, family 4, subfamily F, member 17 (OR4F17), mRNA. 29 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity lung(2) 2 all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTATTCTATGGAGGAATCGTG 0.413000 157 52 0 0 1 0 0 FBXO32 114907 broad.mit.edu 37 8 124518793 124518793 + Missense_Mutation SNP A G G TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr8:124518793A>G uc003yqr.3 - 6 912 c.673T>C c.(673-675)Ttc>Ctc p.F225L FBXO32_uc003yqp.2_Missense_Mutation_p.F80L|FBXO32_uc010mdk.3_Missense_Mutation_p.F132L NM_058229 NP_680482 Q969P5 FBX32_HUMAN Homo sapiens F-box protein 32 (FBXO32), transcript variant 1, mRNA. 225 F-box. autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1) 21 Lung NSC(37;1.13e-13)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) AGGTCAGTGAAGGTGAGGCCT 0.627000 66 17 0 0 1 0 0 AMBP 259 broad.mit.edu 37 9 116837244 116837244 + Missense_Mutation SNP T A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr9:116837244T>A uc004bie.4 - 2 596 c.333A>T c.(331-333)aaA>aaT p.K111N AMBP_uc011lxk.2_Missense_Mutation_p.K52N|AMBP_uc010mvc.1_Non-coding_Transcript NM_001633 NP_001624 P02760 AMBP_HUMAN Homo sapiens alpha-1-microglobulin/bikunin precursor (AMBP), mRNA. 111 cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of JNK cascade|negative regulation of immune response|protein-chromophore linkage extracellular region|plasma membrane IgA binding|calcium channel inhibitor activity|calcium oxalate binding|heme binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 11 Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064) ACTTACTGGATTTGTGATAGA 0.433000 32 30 0 0 1 0 0 GNAZ 2781 broad.mit.edu 37 22 23437892 23437892 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr22:23437892C>T uc002zwu.1 + 1 547 c.10C>T c.(10-12)Cgg>Tgg p.R4W RTDR1_uc002zwt.3_Intron NM_002073 NP_002064 P19086 GNAZ_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), alpha z polypeptide (GNAZ), mRNA. 4 endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1) 19 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.166) CATGGGATGTCGGCAAAGCTC 0.632000 31 16 0 0 1 0 0 SYNPO 11346 broad.mit.edu 37 5 150029215 150029215 + Missense_Mutation SNP C T T rs151000816 TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr5:150029215C>T uc003lsn.3 + 2 2484 c.2110C>T c.(2110-2112)Cgc>Tgc p.R704C SYNPO_uc021yfu.1_Missense_Mutation_p.R704C|SYNPO_uc003lso.4_Missense_Mutation_p.R460C|SYNPO_uc003lsp.3_Missense_Mutation_p.R460C|SYNPO_uc021yfv.1_Missense_Mutation_p.R460C NM_001166208 NP_001159681 Q8N3V7 SYNPO_HUMAN Homo sapiens synaptopodin (SYNPO), transcript variant 3, mRNA. 704 positive regulation of actin filament bundle assembly|regulation of stress fiber assembly actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction actin binding|protein binding NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2) 18 Medulloblastoma(196;0.134)|all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CAAGTCACCCCGCATCCAGGC 0.672000 15 5 0 0 1 0 0 SV2C 22987 broad.mit.edu 37 5 75597248 75597249 + Missense_Mutation DNP CC TT TT TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr5:75597248_75597249CC>TT uc003kei.1 + 11 2012_2013 c.1878_1879CC>TT c.(1876-1881)ttcctt>ttTTtt p.L627F NM_014979 NP_055794 Q496J9 SV2C_HUMAN Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA. 627 neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity p.F626S(1) NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) GCTGTTTCTTCCTTTGGTTCGG 0.480000 111 29 0 0 1 0 0 APOL4 80832 broad.mit.edu 37 22 36587426 36587426 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr22:36587426C>T uc003aox.3 - 5 975 c.750G>A c.(748-750)agG>agA p.R250R APOL4_uc003aow.3_Silent_p.R247R|APOL4_uc010gww.3_Silent_p.R93R NM_145660 NP_663693 Q9BPW4 APOL4_HUMAN Homo sapiens apolipoprotein L, 4 (APOL4), transcript variant b, mRNA. 251 lipid metabolic process|lipid transport|lipoprotein metabolic process extracellular region lipid binding lung(1) 1 CTTTAGATCTCCTGAGTGTAT 0.463000 44 16 0 0 1 0 0 GML 2765 broad.mit.edu 37 8 143921887 143921887 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr8:143921887C>T uc003yxg.3 + 1 124 c.34C>T c.(34-36)Ctc>Ttc p.L12F NM_002066 NP_002057 Q99445 GML_HUMAN Homo sapiens glycosylphosphatidylinositol anchored molecule like protein (GML), mRNA. 12 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|apoptosis|negative regulation of cell proliferation anchored to membrane|extrinsic to membrane|plasma membrane NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8) 18 all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) AGCCATGGAGCTCCCATTGGT 0.577000 66 12 0 0 1 0 0 MICB 4277 broad.mit.edu 37 6 31477560 31477560 + Splice_Site SNP G C C TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr6:31477560G>C uc003ntn.4 + 6 1141 c.1025_splice c.e6-1 p.E342_splice MICB_uc011dnm.2_Splice_Site_p.E310_splice|MICB_uc003nto.4_Splice_Site_p.E299_splice NM_005931 NP_005922 Q29980 MICB_HUMAN Homo sapiens MHC class I polypeptide-related sequence B (MICB), mRNA. 342 antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid MHC class I protein complex|integral to plasma membrane natural killer cell lectin-like receptor binding p.E342D(1) NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1) 13 CTTCTCCAGAGCTTGTGAGCC 0.522000 121 6 0 0 1 0 0 DACH1 1602 broad.mit.edu 37 13 72204733 72204733 + Nonsense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr13:72204733G>A uc021rkj.1 - 2 1510 c.1087C>T c.(1087-1089)Caa>Taa p.Q363* DACH1_uc021rkk.1_Nonsense_Mutation_p.Q363*|DACH1_uc021rkl.1_Intron NM_080759 NP_542937 Q9UI36 DACH1_HUMAN Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA. 361 Interaction with SIX6 and HDAC3 (By similarity). multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) GCTCCATGTTGGTTATTACTG 0.408000 185 55 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40430449 40430449 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr19:40430449C>T uc002omp.4 - 2 1502 c.1494G>A c.(1492-1494)atG>atA p.M498I NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 498 VWFD 1. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) ACAGCTCCACCATCGTGTACG 0.677000 10 8 0 0 1 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85500321 85500321 + Nonsense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr12:85500321G>A uc001tac.3 + 14 3416 c.3305G>A c.(3304-3306)tGg>tAg p.W1102* LRRIQ1_uc021rbo.1_Nonsense_Mutation_p.W980* NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA. 1102 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) GCCATAAAATGGTTTGATGCA 0.338000 57 21 0 0 1 0 0 DSCR10 259234 broad.mit.edu 37 21 39580279 39580279 + RNA SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr21:39580279G>A uc010gnt.2 + 2 c.401G>A Homo sapiens Down syndrome critical region gene 10 (non-protein coding) (DSCR10), non-coding RNA. ATTGTGCAGGGGTTCCCTGCG 0.512000 46 11 0 0 1 0 0 BC063132 0 broad.mit.edu 37 GL000241.1 34505 34505 + RNA SNP A C C TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chrGL000241.1:34505A>C uc011mgv.2 - 2 c.379T>G Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors. CAACATATCAAGCTGGGTttc 0.289000 38 5 0 0 1 0 0 CHD6 84181 broad.mit.edu 37 20 40141507 40141507 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr20:40141507G>A uc002xka.1 - 4 1008 c.830C>T c.(829-831)tCt>tTt p.S277F CHD6_uc002xkd.2_Missense_Mutation_p.S255F|CHD6_uc002xkc.3_Missense_Mutation_p.S312F NM_032221 NP_115597 Q8TD26 CHD6_HUMAN Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA. 277 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) GGCCAGTGTAGAGGCTGAGAG 0.502000 236 158 0 0 1 0 0 MARK1 4139 broad.mit.edu 37 1 220824054 220824054 + Missense_Mutation SNP A T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:220824054A>T uc009xdw.3 + 13 2160 c.1563A>T c.(1561-1563)aaA>aaT p.K521N MARK1_uc001hmn.4_Missense_Mutation_p.K521N|MARK1_uc010pun.2_Missense_Mutation_p.K521N|MARK1_uc001hmm.4_Missense_Mutation_p.K499N NM_018650 NP_061120 Q9P0L2 MARK1_HUMAN Homo sapiens MAP/microtubule affinity-regulating kinase 1 (MARK1), mRNA. 521 intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1) 63 GBM - Glioblastoma multiforme(131;0.0407) AGAATGGAAAAGACAGCAGGT 0.448000 95 17 0 0 1 0 0 FLNA 2316 broad.mit.edu 37 X 153585864 153585864 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chrX:153585864G>A uc004fkk.2 - 28 5132 c.4883C>T c.(4882-4884)cCc>cTc p.P1628L FLNA_uc011mzn.1_5'UTR|FLNA_uc010nuu.1_Missense_Mutation_p.P1628L NM_001110556 NP_001104026 P21333 FLNA_HUMAN Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA. 1628 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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) CGGGGAGAAGGGGATCTCGTC 0.642000 12 15 0 0 1 0 0 ALDH1L1 10840 broad.mit.edu 37 3 125828935 125828935 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr3:125828935C>T uc003eim.1 - 19 2389 c.2199G>A c.(2197-2199)aaG>aaA p.K733K ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Silent_p.K632K|ALDH1L1_uc003ein.1_Silent_p.K268K NM_012190 NP_036322 O75891 AL1L1_HUMAN Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA. 733 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 52 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) CCACCTTCATCTTCCGCACCT 0.572000 103 11 0 0 1 0 0 PROSC 11212 broad.mit.edu 37 8 37630369 37630369 + Missense_Mutation SNP T C C TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr8:37630369T>C uc003xkh.3 + 4 493 c.416T>C c.(415-417)tTa>tCa p.L139S NM_007198 NP_009129 O94903 PROSC_HUMAN Homo sapiens proline synthetase co-transcribed homolog (bacterial) (PROSC), mRNA. 139 pyridoxal phosphate binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1) 7 Lung NSC(58;0.174) BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) L-Proline(DB00172)|Pyridoxal Phosphate(DB00114) CCTGAAAGGTTAAAGGTTATG 0.438000 79 22 0 0 1 0 0 VIM 7431 broad.mit.edu 37 10 17271935 17271935 + Missense_Mutation SNP G A A rs11545550 TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr10:17271935G>A uc001iou.2 + 1 927 c.514G>A c.(514-516)Gag>Aag p.E172K BC078172_uc001iot.1_Non-coding_Transcript NM_003380 NP_003371 P08670 VIME_HUMAN Homo sapiens vimentin (VIM), mRNA. 172 Coil 1B.|Rod. cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding cytosol|intermediate filament protein C-terminus binding|structural constituent of cytoskeleton NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 AGCCCGCGTCGAGGTGGAGCG 0.672000 20 5 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34128622 34128622 + Missense_Mutation SNP T G G TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:34128622T>G uc001bxm.1 - 25 4300 c.4123A>C c.(4123-4125)Agc>Cgc p.S1375R CSMD2_uc001bxn.1_Missense_Mutation_p.S1335R|CSMD2_uc001bxo.1_Missense_Mutation_p.S248R NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 1335 CUB 8. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) AGAACCCCGCTCTCCACAGGC 0.592000 89 13 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7681646 7681646 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr17:7681646C>T uc002giu.1 + 33 5414 c.5400C>T c.(5398-5400)tcC>tcT p.S1800S NM_020877 NP_065928 Q9P225 DYH2_HUMAN Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA. 1800 AAA 1 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) GAGGGGGCTCCCCCAAAGGCC 0.582000 36 30 0 0 1 0 0 CRIPAK 285464 broad.mit.edu 37 4 1389530 1389530 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr4:1389530C>T uc003gdf.2 + 0 4191 c.1231C>T c.(1231-1233)Ctg>Ttg p.L411L NM_175918 NP_787114 Q8N1N5 CRPAK_HUMAN Homo sapiens cysteine-rich PAK1 inhibitor (CRIPAK), mRNA. 411 Interaction with PAK1. ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) GTTTCCTGTCCTGCCGGCCGA 0.527000 93 54 0 0 1 0 0 CYP4Z1 199974 broad.mit.edu 37 1 47582349 47582349 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:47582349G>A uc001cqu.1 + 10 1297 c.1294G>A c.(1294-1296)Gaa>Aaa p.E432K NM_178134 NP_835235 Q86W10 CP4Z1_HUMAN Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA. 432 endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1) 11 ATTCTCCAGGGAAAATTCTGA 0.408000 26 9 0 0 1 0 0 INTS1 26173 broad.mit.edu 37 7 1522258 1522258 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr7:1522258C>T uc003skn.2 - 26 3728 c.3627G>A c.(3625-3627)tcG>tcA p.S1209S INTS1_uc003skp.1_3'UTR NM_001080453 NP_001073922 Q8N201 INT1_HUMAN Homo sapiens integrator complex subunit 1 (INTS1), mRNA. 1209 snRNA processing integral to membrane|integrator complex|nuclear membrane p.A1209A(1) autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 62 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) GCGCCTCCTCCGATGTGTCCA 0.642000 47 10 0 0 1 0 0 ZNF322 79692 broad.mit.edu 37 9 99961447 99961447 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr9:99961447C>T uc004axd.2 - 0 406 c.347G>A c.(346-348)gGa>gAa p.G116E BC070371_uc004axb.2_5'Flank|BC070371_uc004axc.1_5'Flank|AK309476_uc010msl.1_Intron NM_024639 NP_078915 Q6U7Q0 Z322A_HUMAN Homo sapiens zinc finger protein 322 (ZNF322), transcript variant 2, mRNA. 116 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding TCTCTGATGTCCTGAAAGCAC 0.408000 182 5 0 0 1 0 0 RUVBL2 10856 broad.mit.edu 37 19 49510575 49510575 + Missense_Mutation SNP A G G TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr19:49510575A>G uc002plr.1 + 5 425 c.412A>G c.(412-414)Atc>Gtc p.I138V RUVBL2_uc010yab.2_Missense_Mutation_p.I138V|RUVBL2_uc002pls.1_Non-coding_Transcript|RUVBL2_uc010emn.1_Missense_Mutation_p.I93V NM_006666 NP_006657 Q9Y230 RUVB2_HUMAN Homo sapiens RuvB-like 2 (E. coli) (RUVBL2), mRNA. 138 DNA recombination|DNA repair|cellular response to UV|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex|MLL1 complex|NuA4 histone acetyltransferase complex|cytoplasm|membrane|nuclear matrix ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding large_intestine(1)|upper_aerodigestive_tract(1) 2 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047) GACGGAGATCATCGAAGGGGA 0.587000 56 7 0 0 1 0 0 KANK2 25959 broad.mit.edu 37 19 11303658 11303658 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr19:11303658G>A uc002mqm.3 - 1 1177 c.1098C>T c.(1096-1098)gcC>gcT p.A366A KANK2_uc021upe.1_Silent_p.A366A|KANK2_uc002mqo.4_Silent_p.A366A|KANK2_uc002mqp.1_Silent_p.A175A|KANK2_uc002mqq.3_Silent_p.A366A NM_015493 NP_056308 Q63ZY3 KANK2_HUMAN Homo sapiens KN motif and ankyrin repeat domains 2 (KANK2), transcript variant 1, mRNA. 366 endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 GCATTGCCAGGGCCCTCAGCC 0.687000 46 8 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228559909 228559909 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:228559909C>T uc009xez.1 + 93 21474 c.21430C>T c.(21430-21432)Ccc>Tcc p.P7144S OBSCN_uc001hsr.1_Missense_Mutation_p.P1773S NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 7144 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) AGAGCCTGGCCCCTCCCTGGA 0.677000 7 4 0 0 1 0 0 SPAG5 10615 broad.mit.edu 37 17 26938429 26938429 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr17:26938429G>A uc010crq.2 - 9 914 c.882C>T c.(880-882)ttC>ttT p.F294F SPAG5_uc010waq.1_Intron|SPAG5-AS1_uc021tts.1_Intron|SPAG5_uc010war.1_Intron NM_001174103 NP_001167574 Q96R06 SPAG5_HUMAN Homo sapiens uncharacterized serine/threonine-protein kinase SgK494 (SGK494), mRNA. 0 cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytoplasm|spindle pole protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 43 Lung NSC(42;0.00431) TCGCCAGAGAGAAAAGCAAGA 0.488000 12 9 0 0 1 0 0 CYP21A1P 1590 broad.mit.edu 37 6 31975146 31975146 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr6:31975146G>A uc021yve.1 + 4 1323 c.761G>A c.(760-762)gGg>gAg p.G254E Q5ST44 Q5ST44_HUMAN Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene (CYP21A1P), non-coding RNA. 250 electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen CTCCTGGAAGGGCACTTGCAC 0.602000 269 35 0 0 1 0 0 PTCHD3 374308 broad.mit.edu 37 10 27703008 27703008 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr10:27703008C>T uc001itu.2 - 0 290 c.172G>A c.(172-174)Gga>Aga p.G58R NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN Homo sapiens patched domain containing 3 (PTCHD3), mRNA. 58 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 GCCAGGGGTCCTGAGGGTTCG 0.701000 24 18 0 0 1 0 0 PKD1L2 114780 broad.mit.edu 37 16 81193307 81193307 + Silent SNP C A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr16:81193307C>A uc002fgh.1 - 22 3816 c.3816G>T c.(3814-3816)acG>acT p.T1272T PKD1L2_uc002fgg.1_Non-coding_Transcript NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA. 1272 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 TGATGCCAACCGTGAGGTCCC 0.582000 6 4 0.00024832 0.000251807 1 1 0 FLG2 388698 broad.mit.edu 37 1 152323914 152323915 + Missense_Mutation DNP CC TT TT TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:152323914_152323915CC>TT uc001ezw.4 - 2 6420_6421 c.6347_6348GG>AA c.(6346-6348)ggg>gAA p.G2116E AK056431_uc001ezv.3_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN Homo sapiens filaggrin family member 2 (FLG2), mRNA. 2116 calcium ion binding|structural molecule activity p.G2116W(2) NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGTGTGAGACCCCTGAGTGCAC 0.535000 511 80 0 0 1 0 0 SEMA5B 54437 broad.mit.edu 37 3 122645310 122645310 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr3:122645310G>A uc003efz.1 - 8 1369 c.1065C>T c.(1063-1065)taC>taT p.Y355Y SEMA5B_uc011bju.1_Silent_p.Y297Y|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Silent_p.Y355Y|SEMA5B_uc010hro.1_Silent_p.Y297Y|SEMA5B_uc010hrp.1_Non-coding_Transcript NM_001031702 NP_001026872 Q9P283 SEM5B_HUMAN Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA. 355 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) GCTCGTTATAGTAGAAGGGGA 0.597000 44 9 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57600439 57600439 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr12:57600439C>T uc001snd.3 + 75 12240 c.11774C>T c.(11773-11775)tCc>tTc p.S3925F NM_002332 NP_002323 Q07954 LRP1_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA. 3925 aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GGCACCATCTCCTACCGCAGC 0.607000 55 26 0 0 1 0 0 ISLR 3671 broad.mit.edu 37 15 74467763 74467763 + Silent SNP C T T rs138253214 TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr15:74467763C>T uc002axg.1 + 1 846 c.564C>T c.(562-564)atC>atT p.I188I ISLR_uc002axh.1_Silent_p.I188I|ISLR_uc021sqf.1_Silent_p.I188I NM_005545 NP_958934 O14498 ISLR_HUMAN Homo sapiens immunoglobulin superfamily containing leucine-rich repeat (ISLR), transcript variant 1, mRNA. 188 LRRCT. cell adhesion extracellular region p.I188I(2) central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1) 20 CCTGCGGCATCGTGTGGCTCA 0.637000 40 7 0 0 1 0 0 CKAP4 10970 broad.mit.edu 37 12 106633346 106633346 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr12:106633346G>A uc001tlk.3 - 1 1349 c.1265C>T c.(1264-1266)tCc>tTc p.S422F NM_006825 NP_006816 Q07065 CKAP4_HUMAN Homo sapiens cytoskeleton-associated protein 4 (CKAP4), mRNA. 422 ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1) 20 CACCTGCATGGAGAGCACCCC 0.657000 53 24 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113323217 113323217 + Silent SNP A T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr8:113323217A>T uc003ynu.3 - 49 8034 c.7875T>A c.(7873-7875)ccT>ccA p.P2625P CSMD3_uc003yns.3_Silent_p.P1827P|CSMD3_uc003ynt.3_Silent_p.P2585P|CSMD3_uc011lhx.2_Silent_p.P2521P|CSMD3_uc003ynw.1_Silent_p.P336P NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 2625 Sushi 14. integral to membrane|plasma membrane p.P2625S(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CTTGACAGGCAGGGACTGGCG 0.428000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 45 10 0 0 1 0 0 TTC6 319089 broad.mit.edu 37 14 38265520 38265520 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr14:38265520G>A uc001wuj.3 + 1 105 c.3G>A c.(1-3)atG>atA p.M1I TTC6_uc001wug.3_Intron|TTC6_uc001wuh.3_Missense_Mutation_p.M1I|TTC6_uc001wui.3_Non-coding_Transcript SubName: Full=TTC6 protein; central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 14 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176) GBM - Glioblastoma multiforme(112;0.00551) TTCTTATGATGAAATATTATG 0.234000 7 6 0 0 1 0 0 MYO1A 4640 broad.mit.edu 37 12 57441807 57441807 + Nonsense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr12:57441807G>A uc001smw.4 - 2 436 c.196C>T c.(196-198)Caa>Taa p.Q66* MYO1A_uc010sqz.2_5'Flank|MYO1A_uc009zpd.3_Nonsense_Mutation_p.Q66* NM_005379 NP_005370 Q9UBC5 MYO1A_HUMAN Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA. 66 Myosin head-like. sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex ATP binding|actin binding|calmodulin binding|motor activity breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3) 50 GTATAGTCTTGATATTTGGCA 0.483000 44 9 0 0 1 0 0 CNKSR3 154043 broad.mit.edu 37 6 154568615 154568616 + Missense_Mutation DNP GG AA AA TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr6:154568615_154568616GG>AA uc021zhc.1 - 13 1931_1932 c.1426_1427CC>TT c.(1426-1428)ccc>TTc p.P476F CNKSR3_uc003qpw.3_Missense_Mutation_p.P15F|CNKSR3_uc003qpx.3_Missense_Mutation_p.P14F|CNKSR3_uc010kjh.3_Missense_Mutation_p.P15F|CNKSR3_uc021zhd.1_Missense_Mutation_p.P59F|CNKSR3_uc021zhe.1_Intron NM_173515 NP_775786 Q6P9H4 CNKR3_HUMAN Homo sapiens CNKSR family member 3 (CNKSR3), mRNA. 0 DUF1170. negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport cytoplasm|membrane breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 15 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627) CTGACGCAAGGGAACCTGCTGA 0.426000 43 26 0 0 1 0 0 GALNTL6 442117 broad.mit.edu 37 4 173804030 173804030 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr4:173804030G>A uc003isv.3 + 7 1749 c.1013G>A c.(1012-1014)gGa>gAa p.G338E NM_001034845 NP_001030017 Q49A17 GLTL6_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 (GALNTL6), mRNA. 338 Catalytic subdomain B. Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 45 GAAATCTGGGGAGGAGAACAG 0.418000 60 41 0 0 1 0 0 ATP9B 374868 broad.mit.edu 37 18 77105508 77105508 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr18:77105508C>T uc002lmx.3 + 21 2567 c.2553C>T c.(2551-2553)ccC>ccT p.P851P ATP9B_uc002lmw.1_Silent_p.P851P|ATP9B_uc002lmz.1_Silent_p.P545P|ATP9B_uc002lna.3_5'UTR|ATP9B_uc002lnb.1_5'UTR|ATP9B_uc010drb.3_5'Flank NM_198531 NP_940933 O43861 ATP9B_HUMAN Homo sapiens ATPase, class II, type 9B (ATP9B), mRNA. 851 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1) 38 Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171) OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405) GCTGCTCACCCACCCAGAAGG 0.602000 56 39 0 0 1 0 0 SERPINE2 5270 broad.mit.edu 37 2 224842293 224842293 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr2:224842293G>A uc010zlr.1 - 7 1297 c.1160C>T c.(1159-1161)cCt>cTt p.P387L SERPINE2_uc002vnu.2_Missense_Mutation_p.P376L|SERPINE2_uc002vnv.2_Missense_Mutation_p.P375L NM_001136530 NP_001130000 P07093 GDN_HUMAN Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2 (SERPINE2), transcript variant 4, mRNA. 376 negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule heparin binding|receptor binding|serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1) 17 Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797) Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902) AAACAGAAAAGGTCTGTCTAC 0.408000 137 20 0 0 1 0 0 DENND2C 163259 broad.mit.edu 37 1 115167889 115167889 + Silent SNP T C C TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:115167889T>C uc001efd.1 - 3 1419 c.717A>G c.(715-717)gaA>gaG p.E239E DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Silent_p.E239E NM_198459 NP_940861 Q68D51 DEN2C_HUMAN Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA. 239 NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3) 37 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) AAGAGTTATTTTCACAGTATT 0.363000 30 34 0 0 1 0 0 TUBA3C 7278 broad.mit.edu 37 13 19751121 19751121 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr13:19751121G>A uc009zzj.3 - 3 1107 c.1002C>T c.(1000-1002)acC>acT p.T334T NM_006001 NP_525125 Q13748 TBA3C_HUMAN Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA. 334 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) TGGTCTTGATGGTGGCGATGG 0.527000 77 4 0 0 1 0 0 ADAM33 80332 broad.mit.edu 37 20 3652111 3652111 + Silent SNP G T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr20:3652111G>T uc002wit.3 - 16 2025 c.1938C>A c.(1936-1938)gcC>gcA p.A646A ADAM33_uc002wiq.1_5'Flank|ADAM33_uc002wir.1_Silent_p.A646A|ADAM33_uc002wis.3_Intron|ADAM33_uc002wiu.3_Intron|AX748440_uc002wiv.1_5'Flank|ADAM33_uc002wiw.1_Non-coding_Transcript|ADAM33_uc010gba.1_Intron NM_025220 NP_079496 Q9BZ11 ADA33_HUMAN Homo sapiens ADAM metallopeptidase domain 33 (ADAM33), transcript variant 1, mRNA. 646 Cys-rich. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3) 29 GCTCCTGGAAGGCATTCTTCC 0.647000 77 24 2.52088e-20 2.63013e-20 1 1 0 CTAGE1 64693 broad.mit.edu 37 18 19996183 19996183 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr18:19996183G>A uc002ktv.1 - 0 1696 c.1592C>T c.(1591-1593)cCa>cTa p.P531L NM_172241 NP_758441 Q96RT6 CTGE2_HUMAN Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA. 531 integral to membrane cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1) 27 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) AGGATTCCCTGGGCCTCTGGA 0.532000 141 28 0 0 1 0 0 BTN3A3 10384 broad.mit.edu 37 6 26444501 26444501 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr6:26444501C>T uc003nhz.3 + 3 645 c.402C>T c.(400-402)taC>taT p.Y134Y BTN3A3_uc011dkn.2_Silent_p.Y92Y|BTN3A3_uc021ynh.1_Silent_p.Y92Y NM_006994 NP_008925 O00478 BT3A3_HUMAN Homo sapiens butyrophilin, subfamily 3, member A3 (BTN3A3), transcript variant 1, mRNA. 134 Ig-like V-type 1. integral to membrane cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 GTGACTTCTACGAAAAAGCCC 0.502000 112 5 0 0 1 0 0 FLRT2 23768 broad.mit.edu 37 14 86088594 86088594 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr14:86088594C>T uc021rxf.1 + 0 736 c.736C>T c.(736-738)Cct>Tct p.P246S FLRT2_uc001xvr.3_Missense_Mutation_p.P246S|FLRT2_uc010atd.3_Missense_Mutation_p.P246S NM_013231 NP_037363 O43155 FLRT2_HUMAN Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA. 246 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) GTCCCACCCTCCTCCCGATCT 0.512000 66 20 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100678470 100678470 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr7:100678470C>T uc003uxp.1 + 2 3826 c.3773C>T c.(3772-3774)tCc>tTc p.S1258F MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 1258 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GAAACCAGTTCCTCTCCTACA 0.522000 429 71 0 0 1 0 0 SLC12A1 6557 broad.mit.edu 37 15 48500146 48500146 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr15:48500146G>A uc001zwn.4 + 1 446 c.230G>A c.(229-231)gGa>gAa p.G77E SLC12A1_uc010uew.1_Intron|SLC12A1_uc010bem.3_Missense_Mutation_p.G77E|SLC12A1_uc010uex.2_Missense_Mutation_p.G77E NM_000338 NP_000329 Q13621 S12A1_HUMAN Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 1 (SLC12A1), transcript variant 1, mRNA. 77 potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1) 59 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) CTCCAAAGTGGAGAAACTGCT 0.428000 51 21 0 0 1 0 0 SLC5A5 6528 broad.mit.edu 37 19 17985483 17985483 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr19:17985483G>A uc002nhr.4 + 3 833 c.486G>A c.(484-486)ctG>ctA p.L162L NM_000453 NP_000444 Q92911 SC5A5_HUMAN Homo sapiens solute carrier family 5 (sodium iodide symporter), member 5 (SLC5A5), mRNA. 162 cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process integral to membrane|nucleus|plasma membrane iodide transmembrane transporter activity|sodium:iodide symporter activity NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 TGACCGGGCTGGACATCTGGG 0.607000 36 8 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90041078 90041078 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr5:90041078C>T uc003kju.3 + 50 10861 c.10765C>T c.(10765-10767)Cct>Tct p.P3589S GPR98_uc003kjt.3_Missense_Mutation_p.P1295S|GPR98_uc003kjv.3_Missense_Mutation_p.P1189S NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 3589 Calx-beta 23. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TGACTTTATTCCTAGGTAGGT 0.338000 51 11 0 0 1 0 0 PITRM1 10531 broad.mit.edu 37 10 3201173 3201173 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr10:3201173G>A uc009xhv.2 - 9 1138 c.1069C>T c.(1069-1071)Ccc>Tcc p.P357S PITRM1_uc001igr.2_Missense_Mutation_p.P357S|PITRM1_uc001igt.2_Missense_Mutation_p.P357S|PITRM1_uc010qah.2_Missense_Mutation_p.P325S|PITRM1_uc001igu.1_Missense_Mutation_p.P349S|PITRM1_uc010qai.2_Missense_Mutation_p.P328S NM_001242307 NP_001229236 E7ES23 E7ES23_HUMAN Homo sapiens pitrilysin metallopeptidase 1 (PITRM1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 325 proteolysis metalloendopeptidase activity|zinc ion binding breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3) 33 GGAGAATTGGGCCCAGAAGTC 0.413000 46 9 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100701293 100701293 + Nonsense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr7:100701293C>T uc003uxp.1 + 12 13503 c.13450C>T c.(13450-13452)Cag>Tag p.Q4484* MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 4484 extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GATCCGAATTCAGAGGCCTCA 0.483000 62 13 0 0 1 0 0 ACSM2B 348158 broad.mit.edu 37 16 20570715 20570715 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr16:20570715C>T uc002dhj.4 - 3 442 c.232G>A c.(232-234)Gaa>Aaa p.E78K ACSM2B_uc002dhk.4_Missense_Mutation_p.E78K|ACSM2B_uc010bwf.1_Missense_Mutation_p.E78K NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 78 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 CACATTAATTCCTTCCCCTTC 0.557000 15 5 0 0 1 0 0 PCDH17 27253 broad.mit.edu 37 13 58298965 58298965 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr13:58298965G>A uc001vhq.1 + 3 3909 c.3017G>A c.(3016-3018)cGa>cAa p.R1006Q PCDH17_uc010aec.1_Missense_Mutation_p.R1005Q|PCDH17_uc001vhr.1_Missense_Mutation_p.R95Q NM_001040429 NP_001035519 O14917 PCD17_HUMAN Homo sapiens protocadherin 17 (PCDH17), mRNA. 1006 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) AAAGACAAGCGAGAGCACACT 0.448000 57 13 0 0 1 0 0 PCDHB12 56124 broad.mit.edu 37 5 140590082 140590082 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr5:140590082G>A uc003liz.3 + 0 1792 c.1603G>A c.(1603-1605)Gac>Aac p.D535N PCDHB12_uc011dak.2_Missense_Mutation_p.D198N NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN Homo sapiens protocadherin beta 12 (PCDHB12), mRNA. 535 Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGGCGCCACAGACCACGGCTC 0.672000 62 25 0 0 1 0 0 GLIS1 148979 broad.mit.edu 37 1 53975665 53975665 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:53975665G>A uc001cvr.1 - 7 1961 c.1394C>T c.(1393-1395)cCc>cTc p.P465L NM_147193 NP_671726 Q8NBF1 GLIS1_HUMAN Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA. 465 Pro-rich. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4) 24 CCCCTTCAGGGGGCTGACTAT 0.692000 9 5 0 0 1 0 0 MBD5 55777 broad.mit.edu 37 2 149226897 149226897 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr2:149226897C>T uc002twm.4 + 8 2382 c.1385C>T c.(1384-1386)tCa>tTa p.S462L MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002twn.1_5'Flank NM_018328 NP_060798 Q9P267 MBD5_HUMAN Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA. 462 chromosome|nucleus DNA binding|chromatin binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) AGATCACGCTCATCTTCCACA 0.522000 33 9 0 0 1 0 0 PAX6 5080 broad.mit.edu 37 11 31815594 31815594 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr11:31815594C>T uc009yjr.3 - 8 1220 c.751G>A c.(751-753)Gaa>Aaa p.E251K PAX6_uc001mtd.4_Missense_Mutation_p.E251K|PAX6_uc001mte.4_Missense_Mutation_p.E251K|PAX6_uc001mtg.4_Missense_Mutation_p.E265K|PAX6_uc001mtf.4_Missense_Mutation_p.E251K|PAX6_uc001mth.4_Missense_Mutation_p.E251K|PAX6_uc021qfl.1_Missense_Mutation_p.E265K|PAX6_uc021qfm.1_Missense_Mutation_p.E265K|PAX6_uc021qfn.1_Missense_Mutation_p.E251K NM_001127612 NP_001121084 P26367 PAX6_HUMAN Homo sapiens paired box 6 (PAX6), transcript variant 3, mRNA. 251 blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception cytoplasm|nuclear chromatin R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2) 35 Lung SC(675;0.225) ATTCTTGCTTCAGGTAGATCT 0.408000 Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation 102 53 0 0 1 0 0 FGGY 55277 broad.mit.edu 37 1 59787382 59787382 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:59787382C>T uc009wac.3 + 1 373 c.161C>T c.(160-162)tCc>tTc p.S54F FGGY_uc001czg.2_5'UTR|FGGY_uc001czh.2_Non-coding_Transcript|FGGY_uc001czi.4_Missense_Mutation_p.S54F|FGGY_uc001czl.4_Missense_Mutation_p.S54F NM_001113411 NP_001106882 Q96C11 FGGY_HUMAN Homo sapiens FGGY carbohydrate kinase domain containing (FGGY), transcript variant 1, mRNA. 54 carbohydrate metabolic process|cell death|neuron homeostasis kinase activity|phosphotransferase activity, alcohol group as acceptor p.A53A(1)|p.G54E(1)|p.A53T(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(7;7.36e-05) CATGAGCAGTCCTCCGAGGAC 0.532000 18 7 0 0 1 0 0 PUS10 150962 broad.mit.edu 37 2 61236123 61236123 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr2:61236123G>A uc010fci.3 - 2 214 c.154C>T c.(154-156)Ctg>Ttg p.L52L PUS10_uc002sao.3_Silent_p.L52L|PUS10_uc010ypk.2_5'UTR NM_144709 NP_653310 Q3MIT2 PUS10_HUMAN Homo sapiens pseudouridylate synthase 10 (PUS10), mRNA. 52 pseudouridine synthesis|tRNA processing RNA binding|pseudouridine synthase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2) 22 LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113) TCAGTTTCCAGAAATTTCTGT 0.348000 15 4 0 0 1 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38572412 38572412 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr19:38572412C>T uc002ohk.3 + 2 716 c.207C>T c.(205-207)ccC>ccT p.P69P NM_015073 NP_055888 O60292 SI1L3_HUMAN Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA. 69 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) GCCCCAGCCCCACCACTCCCG 0.716000 18 5 0 0 1 0 0 FOLH1 2346 broad.mit.edu 37 11 49208268 49208268 + Silent SNP T C C TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr11:49208268T>C uc001ngy.3 - 4 828 c.567A>G c.(565-567)gaA>gaG p.E189E FOLH1_uc009yly.3_Silent_p.E174E|FOLH1_uc009ylz.3_Silent_p.E174E|FOLH1_uc001ngz.3_Silent_p.E189E|FOLH1_uc009yma.3_5'UTR NM_004476 NP_001180402 Q04609 FOLH1_HUMAN Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA. 189 proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) TCATGTCCCGTTCCAATTTAA 0.348000 63 5 0 0 1 0 0 FKBP5 2289 broad.mit.edu 37 6 35554884 35554884 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr6:35554884G>A uc011dte.1 - 7 970 c.767C>T c.(766-768)tCc>tTc p.S256F FKBP5_uc003okx.2_Missense_Mutation_p.S256F|FKBP5_uc011dtf.1_Missense_Mutation_p.S77F|FKBP5_uc003oky.2_Missense_Mutation_p.S256F|FKBP5_uc003okz.2_Missense_Mutation_p.P226S NM_001145776 NP_004108 Q13451 FKBP5_HUMAN Homo sapiens FK506 binding protein 5 (FKBP5), transcript variant 3, mRNA. 256 protein folding cytoplasm|membrane|nucleus FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2) 17 CATCTCCCAGGATTCTTTGGC 0.428000 153 34 0 0 1 0 0 OTUD7B 56957 broad.mit.edu 37 1 149915967 149915967 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:149915967G>A uc001etn.3 - 11 2677 c.2321C>T c.(2320-2322)tCc>tTc p.S774F NM_020205 NP_064590 Q6GQQ9 OTU7B_HUMAN Homo sapiens OTU domain containing 7B (OTUD7B), mRNA. 774 negative regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|microtubule cytoskeleton|nucleus DNA binding|cysteine-type peptidase activity|protein binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247) ATTGCTATAGGAATCAGCCAC 0.592000 54 23 0 0 1 0 0 ACTL8 81569 broad.mit.edu 37 1 18149839 18149839 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:18149839G>A uc001bat.3 + 1 552 c.336G>A c.(334-336)aaG>aaA p.K112K NM_030812 NP_110439 Q9H568 ACTL8_HUMAN Homo sapiens actin-like 8 (ACTL8), mRNA. 112 cytoplasm|cytoskeleton NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 28 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) CGGACCGAAAGAAGATGCTGG 0.582000 39 8 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3239262 3239262 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chrX:3239262C>T uc004crg.4 - 4 4621 c.4464G>A c.(4462-4464)atG>atA p.M1488I NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 1488 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CTGGCTCCTTCATCCGGGCAG 0.493000 29 11 0 0 1 0 0 FHDC1 85462 broad.mit.edu 37 4 153896865 153896865 + Missense_Mutation SNP A T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr4:153896865A>T uc003inf.2 + 10 2497 c.2422A>T c.(2422-2424)Atg>Ttg p.M808L NM_033393 NP_203751 Q9C0D6 FHDC1_HUMAN Homo sapiens FH2 domain containing 1 (FHDC1), mRNA. 808 actin cytoskeleton organization actin binding ARFIP1/FHDC1(2) NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 43 all_hematologic(180;0.093) GGATGGCTCCATGTCCTCTGG 0.647000 118 19 0 0 1 0 0 VASN 114990 broad.mit.edu 37 16 4431850 4431850 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr16:4431850G>A uc021tch.1 + 0 972 c.972G>A c.(970-972)gaG>gaA p.E324E CORO7-PAM16_uc002cwe.3_Intron|CORO7-PAM16_uc002cwf.3_Intron|CORO7-PAM16_uc002cwg.4_Intron|CORO7-PAM16_uc002cwh.4_Intron|CORO7-PAM16_uc010uxh.2_Intron|CORO7-PAM16_uc010uxi.2_Intron|CORO7-PAM16_uc002cwi.1_Intron|CORO7-PAM16_uc010uxj.1_Intron|CORO7-PAM16_uc010btp.1_Intron|VASN_uc002cwj.1_Silent_p.E324E NM_138440 NP_612449 Q6EMK4 VASN_HUMAN Homo sapiens vasorin (VASN), mRNA. 324 LRRCT. extracellular region|integral to membrane breast(1)|lung(3)|prostate(1)|skin(1) 6 CCAGCCCTGAGGAGACGCGCT 0.682000 24 4 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89938673 89938673 + Splice_Site SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr5:89938673G>A uc003kju.3 + 13 2464 c.2368_splice c.e13-1 p.E790_splice GPR98_uc003kjt.3_Splice_Site NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 790 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GTTTTTAAAGGAAGGAGAATC 0.373000 81 18 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201016272 201016272 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:201016272G>A uc001gvv.3 - 37 4866 c.4639C>T c.(4639-4641)Cgg>Tgg p.R1547W NM_000069 NP_000060 Q13698 CAC1S_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA. 1547 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TTCTTGGGCCGATAGCCATAA 0.517000 117 18 0 0 1 0 0 NYAP2 57624 broad.mit.edu 37 2 226446754 226446754 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr2:226446754C>T uc002voe.2 + 3 796 c.621C>T c.(619-621)ttC>ttT p.F207F NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_5'UTR NM_020864 NP_065915 Q9P242 K1486_HUMAN Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA. 207 GCACATCTTTCGATGAAACGT 0.567000 242 29 0 0 1 0 0 ZIC1 7545 broad.mit.edu 37 3 147131324 147131324 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr3:147131324G>A uc003ewe.3 + 2 2049 c.1330G>A c.(1330-1332)Gaa>Aaa p.E444K NM_003412 NP_003403 Q15915 ZIC1_HUMAN Homo sapiens Zic family member 1 (ZIC1), mRNA. 444 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.N443K(1) central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 63 CAATTTTAACGAATGGTACGT 0.473000 73 7 0 0 1 0 0 CYP4F22 126410 broad.mit.edu 37 19 15654826 15654826 + Silent SNP A G G TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr19:15654826A>G uc002nbh.4 + 8 1151 c.984A>G c.(982-984)gaA>gaG p.E328E NM_173483 NP_775754 Q6NT55 CP4FN_HUMAN Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 22 (CYP4F22), mRNA. 328 endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen p.E328K(1) endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 37 TCCGAGCCGAAGCAGACACCT 0.547000 54 9 0 0 1 0 0 ZFP82 284406 broad.mit.edu 37 19 36883943 36883943 + Silent SNP T G G TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr19:36883943T>G uc002ody.1 - 4 1534 c.1299A>C c.(1297-1299)ctA>ctC p.L433L NM_133466 NP_597723 Q8N141 ZFP82_HUMAN Homo sapiens zinc finger protein 82 homolog (mouse) (ZFP82), mRNA. 433 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GTTGTGAAAGTAGTCTGAAGG 0.408000 75 19 0 0 1 0 0 CDH8 1006 broad.mit.edu 37 16 61823266 61823266 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr16:61823266G>A uc002eog.2 - 7 2353 c.1398C>T c.(1396-1398)atC>atT p.I466I CDH8_uc002eoh.3_Silent_p.I235I NM_001796 NP_001787 P55286 CADH8_HUMAN Homo sapiens cadherin 8, type 2 (CDH8), mRNA. 466 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) CAGTAGCAATGATTGTTATGT 0.403000 58 10 0 0 1 0 0 SLC34A1 6569 broad.mit.edu 37 5 176813004 176813005 + Missense_Mutation DNP GG AA AA TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr5:176813004_176813005GG>AA uc003mgk.4 + 2 230_231 c.126_127GG>AA c.(124-129)ccgggg>ccAAgg p.G43R SLC34A1_uc021yis.1_Missense_Mutation_p.G43R NM_003052 NP_003043 Q06495 NPT2A_HUMAN Homo sapiens solute carrier family 34 (sodium phosphate), member 1 (SLC34A1), transcript variant 1, mRNA. 43 phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport brush border membrane|integral to plasma membrane protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ACAGGATCCCGGGGACCTCTGC 0.688000 73 6 0 0 1 0 0 TAS2R16 50833 broad.mit.edu 37 7 122634823 122634823 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr7:122634823C>T uc003vkl.1 - 0 932 c.866G>A c.(865-867)gGa>gAa p.G289E NM_016945 NP_058641 Q9NYV7 T2R16_HUMAN Homo sapiens taste receptor, type 2, member 16 (TAS2R16), mRNA. 289 detection of chemical stimulus involved in sensory perception of bitter taste endoplasmic reticulum|external side of plasma membrane|trans-Golgi network bitter taste receptor activity|protein binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 CTAGCACTTTCCCTTTAGAAT 0.418000 120 47 0 0 1 0 0 TRIM22 10346 broad.mit.edu 37 11 5730400 5730400 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr11:5730400C>T uc001mbr.3 + 7 1398 c.1019C>T c.(1018-1020)tCt>tTt p.S340F TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron|TRIM22_uc010qzm.2_Missense_Mutation_p.S168F|TRIM22_uc009yes.3_Missense_Mutation_p.S336F|OR56B1_uc001mbs.1_Intron|OR56B1_uc009yev.1_Intron NM_006074 NP_006065 Q8IYM9 TRI22_HUMAN Homo sapiens tripartite motif containing 22 (TRIM22), transcript variant 1, mRNA. 340 B30.2/SPRY. immune response|interspecies interaction between organisms|protein trimerization|response to virus Cajal body|Golgi apparatus|nuclear speck ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2) 23 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14) TGTGATTTTTCTGCTTTTGGT 0.443000 80 12 0 0 1 0 0 FGFR1 2260 broad.mit.edu 37 8 38275784 38275784 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr8:38275784C>T uc022aua.1 - 9 2334 c.1392G>A c.(1390-1392)gaG>gaA p.E464E FGFR1_uc010lwf.3_Non-coding_Transcript|FGFR1_uc011lbu.2_Silent_p.E495E|FGFR1_uc011lbv.2_Silent_p.E462E|FGFR1_uc011lbw.2_Silent_p.E375E|FGFR1_uc003xlp.3_Silent_p.E462E|FGFR1_uc022aub.1_Silent_p.E462E|FGFR1_uc022auc.1_Silent_p.E375E|FGFR1_uc022aud.1_Silent_p.E373E|FGFR1_uc010lwk.3_Silent_p.E454E NM_023110 NP_075598 P11362 FGFR1_HUMAN Homo sapiens fibroblast growth factor receptor 1 (FGFR1), transcript variant 1, mRNA. 464 MAPKKK cascade|axon guidance|cell growth|insulin receptor signaling pathway|positive regulation of cell proliferation|skeletal system development extracellular region|integral to plasma membrane|membrane fraction ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity FGFR1/ZNF703(2) breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 50 all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442) Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065) Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24) Palifermin(DB00039) CTTCGGGAAGCTCATACTCAG 0.537000 1 T """BCR, FOP, ZNF198, CEP1""" """MPD, NHL""" """Pfeiffer syndrome, Kallman syndrome""" 99 24 0 0 1 0 0 CERS6 253782 broad.mit.edu 37 2 169417815 169417815 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr2:169417815G>A uc002uec.1 + 2 514 c.390G>A c.(388-390)acG>acA p.T130T CERS6_uc002ueb.1_Silent_p.T130T NM_203463 NP_982288 Q6ZMG9 CERS6_HUMAN Homo sapiens ceramide synthase 6 (CERS6), transcript variant 2, mRNA. 130 TLC. endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity GCACGCTGACGAGGTTCTGTG 0.463000 85 17 0 0 1 0 0 KRT26 353288 broad.mit.edu 37 17 38928152 38928152 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr17:38928152G>A uc002hvf.3 - 0 260 c.214C>T c.(214-216)Ctt>Ttt p.L72F NM_181539 NP_853517 Q7Z3Y9 K1C26_HUMAN Homo sapiens keratin 26 (KRT26), mRNA. 72 Gly-rich.|Head. intermediate filament structural molecule activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5) 16 Breast(137;0.00526) TCATTGCCAAGAAAACCAGCA 0.522000 106 19 0 0 1 0 0 PLGRKT 55848 broad.mit.edu 37 9 5361160 5361160 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr9:5361160G>A uc003zjc.3 - 4 521 c.240C>T c.(238-240)ttC>ttT p.F80F PLGRKT_uc003zjd.3_Silent_p.F80F NM_018465 NP_060935 Q9HBL7 CI046_HUMAN Homo sapiens chromosome 9 open reading frame 46 (C9orf46), mRNA. 80 integral to membrane TCGGGACCAGGAAGGCTGGCT 0.343000 36 9 0 0 1 0 0 HOMER1 9456 broad.mit.edu 37 5 78734972 78734972 + Splice_Site SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr5:78734972C>T uc003kfy.3 - 5 1491 c.388_splice c.e5-1 p.E130_splice HOMER1_uc010jab.3_Splice_Site_p.E130_splice|HOMER1_uc010jac.3_Intron|HOMER1_uc010jad.3_Intron NM_004272 NP_004263 Q86YM7 HOME1_HUMAN Homo sapiens homer homolog 1 (Drosophila) (HOMER1), mRNA. 130 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1) 14 Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36) CCTGCGGATTCCTTTAAAAAA 0.408000 46 11 0 0 1 0 0 SHOX2 6474 broad.mit.edu 37 3 157820545 157820545 + Silent SNP A G G TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr3:157820545A>G uc003fbs.3 - 2 688 c.549T>C c.(547-549)ttT>ttC p.F183F SHOX2_uc003fbr.3_Silent_p.F159F|SHOX2_uc010hvw.3_Silent_p.F159F NM_003030 NP_003021 O60902 SHOX2_HUMAN Homo sapiens short stature homeobox 2 (SHOX2), transcript variant 1, mRNA. 159 nervous system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1) 20 Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043) GGGTCTCGTCAAAAAGCCTCT 0.582000 109 8 0 0 1 0 0 KEL 3792 broad.mit.edu 37 7 142651282 142651282 + Missense_Mutation SNP C T T rs61729044 TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr7:142651282C>T uc003wcb.3 - 7 1123 c.913G>A c.(913-915)Gac>Aac p.D305N NM_000420 NP_000411 P23276 KELL_HUMAN Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA. 305 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding p.D305E(1) central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) TTGAGCTGGTCGATAGTGACC 0.557000 36 4 0 0 1 0 0 GLIS3 169792 broad.mit.edu 37 9 3828306 3828306 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr9:3828306G>A uc003zhx.1 - 10 3472 c.2759C>T c.(2758-2760)cCt>cTt p.P920L GLIS3_uc010mhf.1_Missense_Mutation_p.P314L|GLIS3_uc003zhv.1_Non-coding_Transcript|GLIS3_uc003zhw.1_Missense_Mutation_p.P765L NM_001042413 NP_001035878 Q8NEA6 GLIS3_HUMAN Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA. 765 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) GAGCTGGCTAGGACAGCGGTC 0.537000 24 6 0 0 1 0 0 EPHA6 285220 broad.mit.edu 37 3 97167461 97167461 + Missense_Mutation SNP T G G TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr3:97167461T>G uc010how.1 + 6 1824 c.1781T>G c.(1780-1782)gTc>gGc p.V594G EPHA6_uc011bgo.1_Non-coding_Transcript|EPHA6_uc011bgp.1_5'UTR|EPHA6_uc003drs.4_5'UTR|EPHA6_uc003drr.4_5'UTR|EPHA6_uc003drt.3_5'UTR|EPHA6_uc010hox.1_Non-coding_Transcript NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA. 499 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 GCCCCCAGTGTCATCATCACA 0.443000 90 11 0 0 1 0 0 UBE3D 90025 broad.mit.edu 37 6 83754240 83754240 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr6:83754240G>A uc003pjp.2 - 3 612 c.504C>T c.(502-504)ttC>ttT p.F168F UBE3D_uc011dyx.1_Non-coding_Transcript|UBE3D_uc003pjr.3_Silent_p.F136F NM_198920 NP_944602 Q7Z6J8 UB2CB_HUMAN Homo sapiens ubiquitin-conjugating enzyme E2C binding protein (UBE2CBP), mRNA. 168 cytoplasm ligase activity AATTCACCAAGAAGAAAGAGT 0.418000 94 14 0 0 1 0 0 COMMD4 54939 broad.mit.edu 37 15 75632213 75632213 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr15:75632213C>T uc002azy.3 + 6 610 c.553C>T c.(553-555)Ctg>Ttg p.L185L COMMD4_uc010umf.1_3'UTR|COMMD4_uc002azz.3_Intron|COMMD4_uc002baa.3_Intron|COMMD4_uc010umg.2_3'UTR NM_017828 NP_060298 Q9H0A8 COMD4_HUMAN Homo sapiens COMM domain containing 4 (COMMD4), mRNA. 185 COMM. cytoplasm protein binding breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1) 10 CCAGGTCCTCCTGGCAGGTGA 0.642000 44 26 0 0 1 0 0 C14orf159 80017 broad.mit.edu 37 14 91681796 91681796 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr14:91681796C>T uc001xyw.2 + 12 1964 c.1612C>T c.(1612-1614)Ctg>Ttg p.L538L C14orf159_uc001xyz.2_Silent_p.L409L|C14orf159_uc001xzb.2_Silent_p.L533L|C14orf159_uc001xyx.2_Silent_p.L481L|C14orf159_uc001xzc.2_Silent_p.L533L|C14orf159_uc001xza.2_Silent_p.L538L|C14orf159_uc001xyv.2_Silent_p.L498L|C14orf159_uc001xze.2_Silent_p.L533L NM_001102368 NP_001095838 Q7Z3D6 CN159_HUMAN Homo sapiens chromosome 14 open reading frame 159 (C14orf159), transcript variant 4, mRNA. 533 mitochondrion NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(154;0.0191)|all_epithelial(191;0.241) Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207) ACTCTACATCCTGTACTCATG 0.542000 59 25 0 0 1 0 0 DRD3 1814 broad.mit.edu 37 3 113847728 113847728 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr3:113847728G>A uc003ebd.2 - 7 1461 c.1038C>T c.(1036-1038)ttC>ttT p.F346F DRD3_uc010hqn.1_Silent_p.F346F|DRD3_uc003ebb.1_Silent_p.F313F|DRD3_uc003ebc.1_Silent_p.F346F NM_000796 NP_000787 P35462 DRD3_HUMAN Homo sapiens dopamine receptor D3 (DRD3), transcript variant a, mRNA. 346 Agonist binding. G-protein coupled receptor internalization|activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1) 36 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) CATGGGTCAAGAAGAAGGGCA 0.498000 164 53 0 0 1 0 0 OR51T1 401665 broad.mit.edu 37 11 4903346 4903346 + Missense_Mutation SNP C A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr11:4903346C>A uc010qyp.2 + 0 298 c.298C>A c.(298-300)Cta>Ata p.L100I NM_001004759 NP_001004759 Q8NGJ9 O51T1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily T, member 1 (OR51T1), mRNA. 73 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) AGCTGTTGATCTATGTCTGAC 0.448000 43 7 4.68919e-08 4.82274e-08 1 1 0 RGPD3 653489 broad.mit.edu 37 2 107049701 107049701 + Nonsense_Mutation SNP G T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr2:107049701G>T uc010ywi.1 - 15 2303 c.2246C>A c.(2245-2247)tCa>tAa p.S749* NM_001144013 NP_001137485 A6NKT7 RGPD3_HUMAN Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA. 749 intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 CTGCATGACTGACTTAAGCAT 0.358000 247 44 2.14255e-21 2.2426e-21 1 1 0 DBC1 1620 broad.mit.edu 37 9 121930123 121930123 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr9:121930123C>T uc004bkc.2 - 7 1981 c.1525G>A c.(1525-1527)Gag>Aag p.E509K NM_014618 NP_055433 O60477 DBC1_HUMAN Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA. 509 cell cycle arrest|cell death cytoplasm protein binding p.E509D(1) NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 AGGCGGATCTCGTTGCTGATG 0.552000 45 7 0 0 1 0 0 NUP214 8021 broad.mit.edu 37 9 134074074 134074074 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr9:134074074C>T uc004cag.3 + 28 5304 c.5193C>T c.(5191-5193)gtC>gtT p.V1731V NUP214_uc004cah.3_Silent_p.V1721V|NUP214_uc004cai.3_Silent_p.V1161V|NUP214_uc010mzg.3_Non-coding_Transcript|NUP214_uc011mcg.2_Silent_p.V557V|NUP214_uc011mcf.1_Silent_p.V508V|NUP214_uc010mzh.1_Silent_p.V245V|NUP214_uc010mzi.1_Silent_p.V245V NM_005085 NP_005076 P35658 NU214_HUMAN Homo sapiens nucleoporin 214kDa (NUP214), mRNA. 1731 11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) AGGCCTCAGTCTTTGGGCAGT 0.597000 T """DEK, SET, ABL1""" """AML, T-ALL""" 75 19 0 0 1 0 0 CD93 22918 broad.mit.edu 37 20 23065183 23065183 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr20:23065183G>A uc002wsv.3 - 0 1795 c.1647C>T c.(1645-1647)atC>atT p.I549I NM_012072 NP_036204 Q9NPY3 C1QR1_HUMAN Homo sapiens CD93 molecule (CD93), mRNA. 549 cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) TGGCGTGATGGATGCTGGGCT 0.627000 83 32 0 0 1 0 0 PALLD 23022 broad.mit.edu 37 4 169632953 169632953 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr4:169632953C>T uc011cjx.2 + 9 2054 c.1843C>T c.(1843-1845)Ccc>Tcc p.P615S PALLD_uc003iru.3_Missense_Mutation_p.P615S|PALLD_uc003irv.3_Missense_Mutation_p.P233S NM_001166108 NP_001159580 Q8WX93 PALLD_HUMAN Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA. 615 cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding p.P615P(1) breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4) 48 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) CGGAGTCCATCCCAGCCGTGG 0.507000 Pancreatic Cancer, Familial Clustering of 33 21 0 0 1 0 0 FGFR4 2264 broad.mit.edu 37 5 176516672 176516672 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr5:176516672G>A uc003mfl.3 + 1 236 c.69G>A c.(67-69)gaG>gaA p.E23E FGFR4_uc003mfm.3_Silent_p.E23E|FGFR4_uc011dfu.2_Silent_p.E23E|FGFR4_uc011dfv.1_Non-coding_Transcript|FGFR4_uc003mfn.1_Silent_p.E23E|FGFR4_uc011dfw.1_Silent_p.E23E|FGFR4_uc003mfo.3_Silent_p.E23E NM_002011 NP_998812 P22455 FGFR4_HUMAN Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA. 23 Ig-like C2-type 1. insulin receptor signaling pathway|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 34 all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Palifermin(DB00039) TGTCCCTGGAGGCCTCTGAGG 0.642000 TSP Lung(9;0.080) 15 7 0 0 1 0 0 PCNXL3 399909 broad.mit.edu 37 11 65401774 65401774 + Missense_Mutation SNP T G G TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr11:65401774T>G uc001oey.2 + 27 4648 c.4648T>G c.(4648-4650)Ttt>Gtt p.F1550V PCNXL3_uc001oez.2_Missense_Mutation_p.F437V|MIR4690_uc021qln.1_5'Flank NM_032223 NP_115599 Q9H6A9 PCX3_HUMAN Homo sapiens pecanex-like 3 (Drosophila) (PCNXL3), mRNA. 1550 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1) 13 GCTGCCCTCCTTTTGTGCTGT 0.657000 10 5 0 0 1 0 0 RDH16 8608 broad.mit.edu 37 12 57351007 57351007 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr12:57351007C>T uc001smi.4 - 0 412 c.240G>A c.(238-240)gtG>gtA p.V80V RDH16_uc009zpa.3_Missense_Mutation_p.D22N NM_003708 NP_003699 O75452 RDH16_HUMAN Homo sapiens retinol dehydrogenase 16 (all-trans) (RDH16), mRNA. 80 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome binding|electron carrier activity|retinol dehydrogenase activity haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9) 16 CATCCAGGGTCACCGTCTCCA 0.592000 77 65 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117718530 117718530 + Splice_Site SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr12:117718530C>T uc001twn.2 - 8 2235 c.1524_splice c.e8+1 p.E508_splice NOS1_uc021ren.1_Splice_Site_p.E172_splice|NOS1_uc021reo.1_Splice_Site_p.E172_splice|NOS1_uc001twm.2_Splice_Site_p.E508_splice NM_001204218 NP_001191147 P29475 NOS1_HUMAN Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA. 508 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) ACGCTCGCACCTCTGTGAACT 0.592000 115 15 0 0 1 0 0 ELP3 55140 broad.mit.edu 37 8 28017827 28017827 + Silent SNP T C C TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr8:28017827T>C uc003xgo.4 + 12 1487 c.1339T>C c.(1339-1341)Ttg>Ctg p.L447L ELP3_uc003xgn.4_Silent_p.L432L|ELP3_uc011las.2_Silent_p.L328L|ELP3_uc011lat.2_Silent_p.L328L|ELP3_uc011laq.2_Silent_p.L375L|ELP3_uc011lar.2_Silent_p.L355L NM_018091 NP_060561 Q9H9T3 ELP3_HUMAN Homo sapiens elongation protein 3 homolog (S. cerevisiae) (ELP3), mRNA. 447 N-acetyltransferase. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA-directed RNA polymerase II, holoenzyme|cytoplasm|nucleolus|transcription elongation factor complex histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183) TCAAGACATTTTGATTGGCCT 0.433000 64 7 0 0 1 0 0 CNTFR 1271 broad.mit.edu 37 9 34552752 34552752 + Nonsense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr9:34552752C>T uc003zup.2 - 7 1163 c.869G>A c.(868-870)tGg>tAg p.W290* CNTFR_uc003zuq.2_Nonsense_Mutation_p.W290*|CNTFR_uc022bgg.1_Nonsense_Mutation_p.W290* NM_147164 NP_671693 P26992 CNTFR_HUMAN Homo sapiens ciliary neurotrophic factor receptor (CNTFR), transcript variant 1, mRNA. 290 Fibronectin type-III 2. nervous system development anchored to membrane|extrinsic to membrane|plasma membrane ciliary neurotrophic factor receptor activity|receptor binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1) 15 all_epithelial(49;0.0899) STAD - Stomach adenocarcinoma(86;0.212) GBM - Glioblastoma multiforme(74;0.00494) CCAGTCACTCCATGTCCCAAT 0.632000 76 29 0 0 1 0 0 GCM2 9247 broad.mit.edu 37 6 10877478 10877478 + Missense_Mutation SNP A G G TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr6:10877478A>G uc003mzn.4 - 1 310 c.238T>C c.(238-240)Tcg>Ccg p.S80P SYCP2L_uc011dim.1_Intron NM_004752 NP_004743 O75603 GCM2_HUMAN Homo sapiens glial cells missing homolog 2 (Drosophila) (GCM2), mRNA. 80 cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 30 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) CCCAGGCACGACTTCTTGAGG 0.617000 62 33 0 0 1 0 0 OLFM4 10562 broad.mit.edu 37 13 53624176 53624176 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr13:53624176C>T uc001vhl.3 + 4 899 c.803C>T c.(802-804)tCt>tTt p.S268F OLFM4_uc001vhk.2_Intron NM_006418 NP_006409 Q6UX06 OLFM4_HUMAN Homo sapiens olfactomedin 4 (OLFM4), mRNA. 268 Olfactomedin-like. cell adhesion extracellular space breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1) 39 Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.13e-08) AGAGGGTTTTCTTATCTATAT 0.468000 78 6 0 0 1 0 0 PGAP3 93210 broad.mit.edu 37 17 37844120 37844120 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr17:37844120G>A uc002hsj.3 - 0 191 c.148C>T c.(148-150)Cgc>Tgc p.R50C ERBB2_uc010cwa.3_5'Flank|ERBB2_uc002hsm.3_5'Flank|PGAP3_uc010wej.2_Missense_Mutation_p.R50C|PGAP3_uc002hsk.3_Missense_Mutation_p.R50C|PGAP3_uc010cvz.3_Missense_Mutation_p.R50C|ERBB2_uc002hsl.3_5'Flank NM_033419 NP_219487 Q96FM1 PGAP3_HUMAN Homo sapiens post-GPI attachment to proteins 3 (PGAP3), mRNA. 50 GPI anchor biosynthetic process Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane hydrolase activity, acting on ester bonds breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 TGGCGGGAGCGGAAGTGATTC 0.657000 1 4 0 0 1 0 0 SMPD4 55627 broad.mit.edu 37 2 130929996 130929996 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr2:130929996G>A uc002tqq.2 - 7 1851 c.702C>T c.(700-702)ttC>ttT p.F234F SMPD4_uc002tqp.2_5'UTR|SMPD4_uc010yzy.2_Intron|SMPD4_uc010yzz.2_Intron|SMPD4_uc002tqs.2_Silent_p.F102F|SMPD4_uc002tqr.2_Silent_p.F234F|SMPD4_uc010zaa.2_Silent_p.F121F|SMPD4_uc010zab.2_Silent_p.F161F|SMPD4_uc002tqt.2_Silent_p.F112F|SMPD4_uc010zac.2_Intron|SMPD4_uc010zad.2_Intron NM_017951 NP_060421 Q9NXE4 NSMA3_HUMAN Homo sapiens sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) (SMPD4), transcript variant 2, mRNA. 195 sphingomyelin catabolic process Golgi membrane|endoplasmic reticulum membrane|integral to membrane|trans-Golgi network metal ion binding|protein binding|sphingomyelin phosphodiesterase D activity|sphingomyelin phosphodiesterase activity p.W233C(1) breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Colorectal(110;0.1) Phosphatidylserine(DB00144) CGGTGGGCAGGAACCATGACA 0.582000 29 6 0 0 1 0 0 ALPPL2 251 broad.mit.edu 37 2 233272030 233272030 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr2:233272030C>T uc002vss.4 + 2 272 c.219C>T c.(217-219)atC>atT p.I73I NM_031313 NP_112603 P10696 PPBN_HUMAN Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA. 73 phosphorylation anchored to membrane|plasma membrane alkaline phosphatase activity|metal ion binding breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1) 13 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) Amifostine(DB01143)|Levamisole(DB00848) CTGCCAGGATCCTAAAAGGGC 0.602000 68 10 0 0 1 0 0 CARD6 84674 broad.mit.edu 37 5 40854355 40854355 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr5:40854355C>T uc003jmg.3 + 2 2996 c.2921C>T c.(2920-2922)tCc>tTc p.S974F NM_032587 NP_115976 Q9BX69 CARD6_HUMAN Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA. 974 Pro-rich. apoptosis|regulation of apoptosis intracellular NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 CAGACAAAATCCTGTCAGTCC 0.522000 185 73 0 0 1 0 0 SYK 6850 broad.mit.edu 37 9 93650893 93650893 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr9:93650893C>T uc004aqz.3 + 12 2024 c.1819C>T c.(1819-1821)Ctg>Ttg p.L607L SYK_uc004ara.3_Silent_p.L584L|SYK_uc004arb.3_Silent_p.L584L|SYK_uc004arc.3_Silent_p.L607L|SYK_uc011ltt.2_Non-coding_Transcript|SYK_uc011ltr.2_Non-coding_Transcript|SYK_uc011lts.2_Non-coding_Transcript NM_003177 NP_003168 P43405 KSYK_HUMAN Homo sapiens spleen tyrosine kinase (SYK), transcript variant 1, mRNA. 607 Protein kinase. cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly T cell receptor complex|cytosol ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2) 26 TCTCATGAATCTGTGCTGGAC 0.473000 T """ETV6, ITK""" """MDS, peripheral T-cell lymphoma""" 10 4 0 0 1 0 0 DNAJC6 9829 broad.mit.edu 37 1 65874423 65874423 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:65874423G>A uc001dce.1 + 16 2792 c.2591G>A c.(2590-2592)aGa>aAa p.R864K DNAJC6_uc001dcd.1_Missense_Mutation_p.R807K|DNAJC6_uc010opc.1_Missense_Mutation_p.R794K NM_014787 NP_055602 O75061 AUXI_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 6 (DNAJC6), mRNA. 807 J. cellular membrane organization|post-Golgi vesicle-mediated transport cytosol SH3 domain binding|heat shock protein binding|protein tyrosine phosphatase activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1) 39 GCTGAGATGAGAAAGGAGGAA 0.433000 33 16 0 0 1 0 0 EYA4 2070 broad.mit.edu 37 6 133785973 133785973 + Missense_Mutation SNP A C C TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr6:133785973A>C uc011ecs.2 + 9 1097 c.781A>C c.(781-783)Acg>Ccg p.T261P EYA4_uc011ecq.2_Missense_Mutation_p.T207P|EYA4_uc011ecr.2_Missense_Mutation_p.T207P|EYA4_uc003qec.4_Missense_Mutation_p.T261P|EYA4_uc003qed.4_Missense_Mutation_p.T261P|EYA4_uc003qee.4_Missense_Mutation_p.T238P|BC041459_uc003qef.1_Intron NM_004100 NP_004091 O95677 EYA4_HUMAN Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA. 261 DNA repair|anatomical structure morphogenesis|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1) 48 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) TTCCAATTCAACGAATTTCAG 0.303000 18 6 0 0 1 0 0 ZNF492 57615 broad.mit.edu 37 19 22846965 22846965 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr19:22846965G>A uc002nqw.3 + 3 738 c.494G>A c.(493-495)gGa>gAa p.G165E NM_020855 NP_065906 Q9P255 ZN492_HUMAN Homo sapiens zinc finger protein 492 (ZNF492), mRNA. 165 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244) ATTCATAGTGGAGAGAAACCC 0.333000 16 3 0 0 1 0 0 MOSPD2 158747 broad.mit.edu 37 X 14937839 14937839 + Nonsense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chrX:14937839C>T uc004cwi.3 + 14 1589 c.1465C>T c.(1465-1467)Cag>Tag p.Q489* MOSPD2_uc004cwj.3_Nonsense_Mutation_p.Q426* NM_152581 NP_001170946 Q8NHP6 MSPD2_HUMAN Homo sapiens motile sperm domain containing 2 (MOSPD2), transcript variant 1, mRNA. 489 integral to membrane structural molecule activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Hepatocellular(33;0.183) AGACCAAGTTCAGCGTTGTAT 0.393000 78 92 0 0 1 0 0 SPAG16 79582 broad.mit.edu 37 2 214878744 214878744 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr2:214878744C>T uc002veq.3 + 12 1562 c.1470C>T c.(1468-1470)tcC>tcT p.S490S SPAG16_uc010fuz.2_Silent_p.S341S|SPAG16_uc002ver.3_Silent_p.S436S|SPAG16_uc010zjk.2_Silent_p.S396S NM_024532 NP_078808 Q8N0X2 SPG16_HUMAN Homo sapiens sperm associated antigen 16 (SPAG16), transcript variant 1, mRNA. 490 cilium assembly cilium axoneme|flagellar axoneme endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 56 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) TTCCTTTCTCCAATACTCTTC 0.363000 108 17 0 0 1 0 0 FASTKD5 60493 broad.mit.edu 37 20 3128187 3128187 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr20:3128187G>A uc021vzx.1 - 0 1530 c.1530C>T c.(1528-1530)ctC>ctT p.L510L LOC100134015_uc002whv.1_Intron|UBOX5_uc002whw.3_Intron|UBOX5_uc002whx.3_Intron|UBOX5_uc002why.1_Intron|FASTKD5_uc002whz.3_Silent_p.L510L NM_021826 NP_068598 Q7L8L6 FAKD5_HUMAN Homo sapiens FAST kinase domains 5 (FASTKD5), mRNA. 510 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2) 19 GTTCCTTAAGGAGGTCAAACT 0.453000 37 9 0 0 1 0 0 PRODH2 58510 broad.mit.edu 37 19 36297576 36297576 + Splice_Site SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr19:36297576C>T uc002obx.1 - 7 1080 c.1062_splice c.e7+1 p.K354_splice NM_021232 NP_067055 Q9UF12 PROD2_HUMAN Homo sapiens proline dehydrogenase (oxidase) 2 (PRODH2), mRNA. 354 glutamate biosynthetic process|proline catabolic process proline dehydrogenase activity haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) ACACTGCACACCTTTAGACAG 0.652000 45 11 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139153554 139153554 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr8:139153554G>A uc003yuy.3 - 16 3848 c.3677C>T c.(3676-3678)tCg>tTg p.S1226L FAM135B_uc003yux.3_Missense_Mutation_p.S1127L|FAM135B_uc003yuz.3_Non-coding_Transcript NM_015912 NP_056996 Q49AJ0 F135B_HUMAN Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA. 1226 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TGTGAGGACCGATCGGATGAT 0.547000 HNSCC(54;0.14) 59 24 0 0 1 0 0 SPTBN1 6711 broad.mit.edu 37 2 54851971 54851971 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr2:54851971G>A uc002rxu.3 + 10 1462 c.1213G>A c.(1213-1215)Gaa>Aaa p.E405K SPTBN1_uc002rxv.1_Missense_Mutation_p.E405K|SPTBN1_uc002rxx.3_Missense_Mutation_p.E392K NM_003128 NP_003119 Q01082 SPTB2_HUMAN Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA. 405 actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) AGCGGAACACGAAAGAGAACT 0.473000 24 12 0 0 1 0 0 OR8H2 390151 broad.mit.edu 37 11 55873216 55873216 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr11:55873216G>A uc010riy.2 + 0 698 c.698G>A c.(697-699)gGa>gAa p.G233E NM_001005200 NP_001005200 Q8N162 OR8H2_HUMAN Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA. 233 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 61 Esophageal squamous(21;0.00693) TCCACTTCAGGAAAGCAGAAA 0.368000 HNSCC(53;0.14) 30 15 0 0 1 0 0 KPRP 448834 broad.mit.edu 37 1 152733095 152733095 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:152733095C>T uc001fal.1 + 1 1089 c.1031C>T c.(1030-1032)cCt>cTt p.P344L KPRP_uc021ozf.1_Missense_Mutation_p.P344L NM_001025231 NP_001020402 Q5T749 KPRP_HUMAN Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA. 344 Pro-rich. cytoplasm NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CAGAGGTGTCCTGTTGAGATT 0.657000 47 24 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175306679 175306679 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:175306679G>A uc001gkp.1 - 16 3600 c.3519C>T c.(3517-3519)gaC>gaT p.D1173D TNR_uc009wwu.1_Silent_p.D1173D NM_003285 NP_003276 Q92752 TENR_HUMAN Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA. 1173 Fibrinogen C-terminal. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) AGCCGCCCCCGTCGGTGGTCA 0.502000 63 23 0 0 1 0 0 PPP4R1 9989 broad.mit.edu 37 18 9557371 9557371 + Nonsense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr18:9557371G>A uc002koe.1 - 14 2156 c.2038C>T c.(2038-2040)Cga>Tga p.R680* PPP4R1_uc002kof.2_Nonsense_Mutation_p.R97*|PPP4R1_uc010wzo.1_Nonsense_Mutation_p.R526*|PPP4R1_uc002kod.1_Nonsense_Mutation_p.R663* NM_001042388 NP_001035847 Q8TF05 PP4R1_HUMAN Homo sapiens protein phosphatase 4, regulatory subunit 1 (PPP4R1), transcript variant 1, mRNA. 680 protein phosphorylation|signal transduction protein phosphatase 4 complex protein binding|protein phosphatase type 4 regulator activity large_intestine(1)|skin(2) 3 AGAGTTCGTCGAACTTTCCAC 0.358000 92 18 0 0 1 0 0 GFM1 85476 broad.mit.edu 37 3 158364577 158364577 + Missense_Mutation SNP T C C TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr3:158364577T>C uc003fce.3 + 3 520 c.413T>C c.(412-414)tTg>tCg p.L138S GFM1_uc003fcd.3_Missense_Mutation_p.L138S|GFM1_uc003fcg.3_Missense_Mutation_p.L50S NM_024996 NP_079272 Q96RP9 EFGM_HUMAN Homo sapiens G elongation factor, mitochondrial 1 (GFM1), nuclear gene encoding mitochondrial protein, mRNA. 138 mitochondrial translational elongation mitochondrion GTP binding|GTPase activity|translation elongation factor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2) 22 Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043) CTGAGAGTGTTGGATGGTGCA 0.448000 32 6 0 0 1 0 0 FRRS1L 23732 broad.mit.edu 37 9 111899872 111899872 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr9:111899872C>T uc004bdw.1 - 4 898 c.898G>A c.(898-900)Gct>Act p.A300T NM_014334 NP_055149 Q9P0K9 CI004_HUMAN Homo sapiens chromosome 9 open reading frame 4 (C9orf4), mRNA. 300 integral to membrane CGCTCTGAAGCCGGCGGTGAG 0.388000 106 24 0 0 1 0 0 OR12D2 26529 broad.mit.edu 37 6 29365202 29365202 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr6:29365202C>T uc003nmf.4 + 0 787 c.726C>T c.(724-726)tcC>tcT p.S242S NM_013936 NP_039224 P58182 O12D2_HUMAN Homo sapiens olfactory receptor, family 12, subfamily D, member 2 (OR12D2), mRNA. 242 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S242T(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 31 CTTGTGCCTCCCACTTCATGG 0.433000 128 28 0 0 1 0 0 CERS2 29956 broad.mit.edu 37 1 150940569 150940570 + Nonsense_Mutation DNP GG AA AA TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:150940569_150940570GG>AA uc001evy.3 - 3 825_826 c.399_400CC>TT c.(397-402)ttccga>ttTTga p.R134* CERS2_uc001evz.3_Nonsense_Mutation_p.R134*|CERS2_uc009wmh.3_5'UTR NM_181746 NP_859530 Q96G23 CERS2_HUMAN Homo sapiens ceramide synthase 2 (CERS2), transcript variant 1, mRNA. 134 TLC. endoplasmic reticulum membrane|integral to membrane|nuclear membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity CTGGCTTCTCGGAACTTCTTGA 0.619000 72 20 0 0 1 0 0 EPHB1 2047 broad.mit.edu 37 3 134898705 134898705 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr3:134898705C>T uc003eqt.3 + 9 2138 c.1763C>T c.(1762-1764)tCc>tTc p.S588F EPHB1_uc003equ.3_Missense_Mutation_p.S149F NM_004441 NP_004432 P54762 EPHB1_HUMAN Homo sapiens EPH receptor B1 (EPHB1), mRNA. 588 integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 CAACAAGGCTCCCCAGGGATG 0.493000 169 54 0 0 1 0 0 NF1P2 440225 broad.mit.edu 37 15 21134198 21134198 + Splice_Site SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr15:21134198C>T uc001ytv.1 - 2 c.308_splice c.e2+1 Homo sapiens neurofibromin 1 pseudogene 2 (NF1P2), non-coding RNA. ATGCACTTACCCACTGAGAAC 0.433000 90 16 0 0 1 0 0 ESYT1 23344 broad.mit.edu 37 12 56528177 56528177 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr12:56528177C>T uc001sjr.3 + 14 1745 c.1627C>T c.(1627-1629)Cta>Tta p.L543L ESYT1_uc001sjq.3_Silent_p.L533L NM_001184796 NP_001171725 Q9BSJ8 ESYT1_HUMAN Homo sapiens extended synaptotagmin-like protein 1 (ESYT1), transcript variant 1, mRNA. 533 C2 2. integral to membrane breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 28 CCGGTTCTTCCTACAAGACCC 0.507000 198 23 0 0 1 0 0 CXorf22 170063 broad.mit.edu 37 X 35974126 35974126 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chrX:35974126C>T uc004ddj.3 + 7 1289 c.1223C>T c.(1222-1224)cCt>cTt p.P408L CXorf22_uc010ngv.3_Non-coding_Transcript NM_152632 NP_689845 Q6ZTR5 CX022_HUMAN Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA. 408 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 ACAGGACTTCCTGTTTTACTA 0.373000 35 53 0 0 1 0 0 KCND3 3752 broad.mit.edu 37 1 112524501 112524501 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:112524501G>A uc001ebu.1 - 1 1328 c.848C>T c.(847-849)tCc>tTc p.S283F KCND3_uc001ebv.1_Missense_Mutation_p.S283F NM_004980 NP_004971 Q9UK17 KCND3_HUMAN Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA. 283 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) GAAGGCGCCGGACACGTCCTC 0.602000 47 49 0 0 1 0 0 WDR37 22884 broad.mit.edu 37 10 1175199 1175199 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr10:1175199C>T uc009xhm.1 + 13 1576 c.1403C>T c.(1402-1404)cCc>cTc p.P468L WDR37_uc001igf.1_Missense_Mutation_p.P467L|WDR37_uc009xhn.1_Non-coding_Transcript|WDR37_uc001igg.1_Non-coding_Transcript NM_014023 NP_054742 Q9Y2I8 WDR37_HUMAN Homo sapiens WD repeat domain 37 (WDR37), mRNA. 467 breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1) 17 all_epithelial(10;0.0449)|Colorectal(49;0.142) Epithelial(11;0.134) GAAGACCACCCCGTGTGCAAT 0.483000 47 19 0 0 1 0 0 C15orf39 56905 broad.mit.edu 37 15 75498827 75498827 + Silent SNP G C C TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr15:75498827G>C uc002azp.4 + 1 758 c.438G>C c.(436-438)ctG>ctC p.L146L C15orf39_uc002azq.4_Silent_p.L146L|C15orf39_uc021sqm.1_5'UTR|C15orf39_uc002azr.4_5'Flank NM_015492 NP_056307 Q6ZRI6 CO039_HUMAN Homo sapiens chromosome 15 open reading frame 39 (C15orf39), mRNA. 146 autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 16 CAACTTGTCTGGGGGAAGGAG 0.627000 58 5 0 0 1 0 0 KLHL30 377007 broad.mit.edu 37 2 239054411 239054411 + Missense_Mutation SNP T A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr2:239054411T>A uc002vxr.2 + 4 1195 c.1088T>A c.(1087-1089)aTg>aAg p.M363K NM_198582 NP_940984 Q0D2K2 KLH30_HUMAN Homo sapiens kelch-like 30 (Drosophila) (KLHL30), mRNA. 363 lung(4) 4 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) GTGGCGCCCATGCTGAAGCCC 0.667000 11 4 0 0 1 0 0 GSTO1 9446 broad.mit.edu 37 10 106015023 106015023 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr10:106015023G>A uc001kya.3 + 1 356 c.137G>A c.(136-138)gGa>gAa p.G46E GSTO1_uc021pxr.1_Missense_Mutation_p.G18E|GSTO1_uc021pxs.1_Missense_Mutation_p.G46E NM_004832 NP_001177932 P78417 GSTO1_HUMAN Homo sapiens glutathione S-transferase omega 1 (GSTO1), transcript variant 1, mRNA. 46 GST N-terminal. xenobiotic metabolic process cytosol glutathione transferase activity|monodehydroascorbate reductase (NADH) activity large_intestine(1)|lung(1)|stomach(1) 3 Colorectal(252;0.102)|Breast(234;0.122) Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147) Glutathione(DB00143) AAGGCCAAGGGAATCAGGTGG 0.711000 45 9 0 0 1 0 0 SPACA7 122258 broad.mit.edu 37 13 113030777 113030777 + Silent SNP G A A rs146975122 byFrequency TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr13:113030777G>A uc001vsd.2 + 0 127 c.78G>A c.(76-78)ccG>ccA p.P26P NM_145248 NP_660291 Q96KW9 SPAC7_HUMAN Homo sapiens sperm acrosome associated 7 (SPACA7), mRNA. 26 extracellular region p.R25W(1) large_intestine(5)|lung(4)|skin(3)|urinary_tract(1) 13 AGCTCCGGCCGAGAACCGTGA 0.597000 21 5 0 0 1 0 0 KCNK1 3775 broad.mit.edu 37 1 233750003 233750003 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:233750003G>A uc010pxo.1 + 0 254 c.86G>A c.(85-87)gGc>gAc p.G29D NM_002245 NP_002236 O00180 KCNK1_HUMAN Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA. 29 voltage-gated potassium channel complex inward rectifier potassium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 11 all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175) Ibutilide(DB00308)|Quinidine(DB00908) CTGGTGCTGGGCTACTTGCTC 0.677000 34 7 0 0 1 0 0 PACSIN2 11252 broad.mit.edu 37 22 43272327 43272327 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr22:43272327G>A uc010gzg.3 - 9 1386 c.1164C>T c.(1162-1164)taC>taT p.Y388Y PACSIN2_uc003bdg.4_Silent_p.Y388Y|PACSIN2_uc003bdf.4_Silent_p.Y347Y NM_007229 NP_009160 Q9UNF0 PACN2_HUMAN Homo sapiens protein kinase C and casein kinase substrate in neurons 2 (PACSIN2), transcript variant 2, mRNA. 388 actin cytoskeleton organization|endocytosis cytoplasmic membrane-bounded vesicle transporter activity NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1) 19 Glioma(61;0.222) GGGTCTTCTCGTAGCTGCTCA 0.632000 74 25 0 0 1 0 0 GUCA1B 2979 broad.mit.edu 37 6 42162358 42162358 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr6:42162358C>T uc003orz.3 - 0 337 c.201G>A c.(199-201)aaG>aaA p.K67K NM_002098 NP_002089 Q9UMX6 GUC1B_HUMAN Homo sapiens guanylate cyclase activator 1B (retina) (GUCA1B), mRNA. 67 EF-hand 2. body fluid secretion|cell-cell signaling|receptor guanylyl cyclase signaling pathway|visual perception plasma membrane calcium ion binding|calcium sensitive guanylate cyclase activator activity p.K67N(2) large_intestine(3)|lung(3)|skin(2) 8 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00154)|STAD - Stomach adenocarcinoma(11;0.00177) TTACCCCATTCTTGTCGAAGG 0.572000 49 17 0 0 1 0 0 SEMA5B 54437 broad.mit.edu 37 3 122632481 122632481 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr3:122632481G>A uc003efz.1 - 15 2484 c.2180C>T c.(2179-2181)tCc>tTc p.S727F SEMA5B_uc011bju.1_Missense_Mutation_p.S669F|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Missense_Mutation_p.S727F|SEMA5B_uc010hro.1_Missense_Mutation_p.S669F|SEMA5B_uc003efy.1_5'Flank NM_001031702 NP_001026872 Q9P283 SEM5B_HUMAN Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA. 727 TSP type-1 2. cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) GGAGCCCCAGGAAGCCCAGAA 0.672000 22 13 0 0 1 0 0 MDH1B 130752 broad.mit.edu 37 2 207620021 207620021 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr2:207620021C>T uc002vbs.3 - 4 677 c.622G>A c.(622-624)Gcc>Acc p.A208T MDH1B_uc010ziw.2_Intron|MDH1B_uc002vbt.3_Intron|MDH1B_uc010fui.3_Missense_Mutation_p.A208T|MDH1B_uc021vvm.1_Missense_Mutation_p.A110T NM_001039845 NP_001034934 Q5I0G3 MDH1B_HUMAN Homo sapiens malate dehydrogenase 1B, NAD (soluble) (MDH1B), mRNA. 208 carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle binding|malate dehydrogenase activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1) 34 LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145) ATGACGTGGGCCTGGCGGAAG 0.587000 28 9 0 0 1 0 0 TLL2 7093 broad.mit.edu 37 10 98145939 98145939 + Missense_Mutation SNP C T T rs61738801 byFrequency TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr10:98145939C>T uc001kml.2 - 14 2127 c.1886G>A c.(1885-1887)gGa>gAa p.G629E NM_012465 NP_036597 Q9Y6L7 TLL2_HUMAN Homo sapiens tolloid-like 2 (TLL2), mRNA. 629 CUB 3. cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) GGTGATGGTTCCATTCAGCTT 0.547000 60 33 0 0 1 0 0 SPEG 10290 broad.mit.edu 37 2 220355525 220355525 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr2:220355525G>A uc010fwg.3 + 37 9232 c.9232G>A c.(9232-9234)Ggc>Agc p.G3078S NM_005876 NP_005867 Q15772 SPEG_HUMAN Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA. 3078 Protein kinase 2. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CTACCTCCACGGCCACCACGT 0.577000 80 10 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179516203 179516203 + Missense_Mutation SNP T G G TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr2:179516203T>G uc021vsy.1 - 160 32447 c.32222A>C c.(32221-32223)aAg>aCg p.K10741T MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_Non-coding_Transcript|TTN_uc002umx.1_5'UTR NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 11668 Glu-rich.|Pro-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R10740T(1) 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) GGCTTCTGGCTTTTTGGGAAC 0.478000 61 18 0 0 1 0 0 SLC43A2 124935 broad.mit.edu 37 17 1479899 1479899 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr17:1479899G>A uc002fsu.3 - 13 1859 c.1552C>T c.(1552-1554)Cct>Tct p.P518S SLC43A2_uc002fsv.3_Missense_Mutation_p.P514S NM_152346 NP_689559 Q8N370 LAT4_HUMAN Homo sapiens solute carrier family 43, member 2 (SLC43A2), mRNA. 514 cellular nitrogen compound metabolic process|ion transport integral to membrane|plasma membrane endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1) 12 UCEC - Uterine corpus endometrioid carcinoma (25;0.0883) ACCCACAGAGGGTCTCCCTGG 0.662000 28 22 0 0 1 0 0 FAM113B 91523 broad.mit.edu 37 12 47629042 47629042 + Nonsense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr12:47629042C>T uc001rpq.3 + 1 721 c.196C>T c.(196-198)Cag>Tag p.Q66* FAM113B_uc001rpn.3_Nonsense_Mutation_p.Q66*|FAM113B_uc021qxi.1_Nonsense_Mutation_p.Q66* NM_138371 NP_612380 Q96HM7 F113B_HUMAN Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA. 66 hydrolase activity NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10) 35 Renal(347;0.138)|Lung SC(27;0.192) GGACGGAGGCCAGCGGGGCCA 0.607000 57 23 0 0 1 0 0 LIPG 9388 broad.mit.edu 37 18 47101807 47101807 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr18:47101807G>A uc002ldv.3 + 4 892 c.640G>A c.(640-642)Gat>Aat p.D214N LIPG_uc002ldu.1_Missense_Mutation_p.D214N|LIPG_uc010xdh.2_Intron NM_006033 NP_006024 Q9Y5X9 LIPE_HUMAN Homo sapiens lipase, endothelial (LIPG), mRNA. 214 cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport extracellular space heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2) 18 GGACGATGCAGATTTTGTGGA 0.562000 51 17 0 0 1 0 0 OR2M5 127059 broad.mit.edu 37 1 248308755 248308755 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:248308755C>T uc010pze.2 + 0 306 c.306C>T c.(304-306)ttC>ttT p.F102F NM_001004690 NP_001004690 A3KFT3 OR2M5_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA. 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) CACAAATTTTCTTCTATGTAT 0.458000 298 143 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179640771 179640771 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr2:179640771C>T uc021vsy.1 - 27 6045 c.5820G>A c.(5818-5820)agG>agA p.R1940R TTN_uc021vsz.1_Silent_p.R1894R|TTN_uc021vta.1_Silent_p.R1894R|TTN_uc021vtb.1_Silent_p.R1894R|TTN_uc002unb.2_Silent_p.R1940R|AK123298_uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 1940 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.T1940T(1) 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) CAGGAGCTCTCCTAAGGACAG 0.453000 156 37 0 0 1 0 0 PRB3 5544 broad.mit.edu 37 12 11420865 11420865 + Silent SNP T C C TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr12:11420865T>C uc001qzs.3 - 2 356 c.318A>G c.(316-318)ggA>ggG p.G106G PRB4_uc001qzf.1_Intron NM_006249 NP_006240 Q04118 PRB3_HUMAN Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA. 106 10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich. extracellular region Gram-negative bacterial cell surface binding breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5) 25 OV - Ovarian serous cystadenocarcinoma(49;0.201) ACTGGTTTCCTCCTTGTGGGG 0.632000 524 43 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129906710 129906710 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr10:129906710G>A uc001lke.3 - 12 3589 c.3394C>T c.(3394-3396)Cca>Tca p.P1132S MKI67_uc001lkf.3_Missense_Mutation_p.P772S|MKI67_uc009yav.1_Missense_Mutation_p.P707S|MKI67_uc009yaw.1_Missense_Mutation_p.P282S NM_002417 NP_002408 P46013 KI67_HUMAN Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA. 1132 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TCTGGTGGTGGAGATTTGCAG 0.463000 172 130 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994042 140994042 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chrX:140994042C>T uc004fbt.3 + 3 1176 c.852C>T c.(850-852)ttC>ttT p.F284F MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'UTR NM_005462 NP_005453 O60732 MAGC1_HUMAN Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA. 284 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TGAGTCTTTTCCAGAGTTCCC 0.493000 HNSCC(15;0.026) 37 18 0 0 1 0 0 MYOM1 8736 broad.mit.edu 37 18 3215039 3215039 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr18:3215039G>A uc002klp.3 - 1 517 c.183C>T c.(181-183)ttC>ttT p.F61F MYOM1_uc002klq.3_Silent_p.F61F NM_003803 NP_003794 P52179 MYOM1_HUMAN Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA. 61 striated muscle myosin thick filament structural constituent of muscle NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 ACGCCCGACGGAAGGCCTCGG 0.682000 42 32 0 0 1 0 0 OR10K1 391109 broad.mit.edu 37 1 158435665 158435665 + Missense_Mutation SNP T C C TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:158435665T>C uc010pij.2 + 0 314 c.314T>C c.(313-315)cTc>cCc p.L105P NM_001004473 NP_001004473 Q8NGX5 O10K1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA. 105 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 27 all_hematologic(112;0.0378) TTTTCCTTCCTCTTCTTTGGC 0.502000 169 4 0 0 1 0 0 CPXM1 56265 broad.mit.edu 37 20 2774947 2774947 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr20:2774947G>A uc002wgu.3 - 13 2168 c.2094C>T c.(2092-2094)ttC>ttT p.F698F CPXM1_uc010gas.3_Silent_p.F624F NM_019609 NP_062555 Q96SM3 CPXM1_HUMAN Homo sapiens carboxypeptidase X (M14 family), member 1 (CPXM1), transcript variant 1, mRNA. 698 cell adhesion|proteolysis metallocarboxypeptidase activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 TGGTGAGCACGAAATTGCAGG 0.642000 27 24 0 0 1 0 0 CAPRIN2 65981 broad.mit.edu 37 12 30867933 30867933 + Silent SNP T C C TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr12:30867933T>C uc001rji.1 - 14 3361 c.2610A>G c.(2608-2610)agA>agG p.R870R CAPRIN2_uc001rjf.1_Silent_p.R666R|CAPRIN2_uc001rjg.1_Silent_p.R537R|CAPRIN2_uc001rjh.1_Silent_p.R820R|CAPRIN2_uc001rjk.4_Silent_p.R869R|CAPRIN2_uc001rjj.1_Silent_p.R536R|CAPRIN2_uc001rjl.4_Silent_p.R814R|CAPRIN2_uc001rjm.1_3'UTR NM_001002259 NP_001002259 Q6IMN6 CAPR2_HUMAN Homo sapiens caprin family member 2 (CAPRIN2), transcript variant 1, mRNA. 870 negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter mitochondrion|receptor complex RNA binding|receptor binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 48 all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) TGGTTATTAATCTCCCACCAC 0.428000 102 27 0 0 1 0 0 DRD3 1814 broad.mit.edu 37 3 113890705 113890705 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr3:113890705G>A uc003ebd.2 - 2 558 c.135C>T c.(133-135)ttC>ttT p.F45F DRD3_uc010hqn.1_Silent_p.F45F|DRD3_uc003ebb.1_Silent_p.F45F|DRD3_uc003ebc.1_Silent_p.F45F NM_000796 NP_000787 P35462 DRD3_HUMAN Homo sapiens dopamine receptor D3 (DRD3), transcript variant a, mRNA. 45 G-protein coupled receptor internalization|activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding p.F45Y(1) central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1) 36 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) GGCCATTGCCGAAGACGATGG 0.612000 63 15 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170127589 170127589 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr2:170127589G>A uc002ues.3 - 15 2358 c.2145C>T c.(2143-2145)tcC>tcT p.S715S LRP2_uc010zdf.1_Intron NM_004525 NP_004516 P98164 LRP2_HUMAN Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA. 715 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome SH3 domain binding|calcium ion binding|receptor activity biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TAGCAACTTGGGATGAAAAAA 0.433000 33 12 0 0 1 0 0 ZNF300 91975 broad.mit.edu 37 5 150275940 150275940 + Missense_Mutation SNP A C C TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr5:150275940A>C uc021yfx.1 - 6 1337 c.909T>G c.(907-909)caT>caG p.H303Q ZNF300_uc021yfy.1_Missense_Mutation_p.H287Q|ZNF300_uc021yfz.1_Missense_Mutation_p.H251Q NM_001172831 NP_001166303 Q96RE9 ZN300_HUMAN Homo sapiens zinc finger protein 300 (ZNF300), transcript variant 1, mRNA. 287 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2) 27 Medulloblastoma(196;0.109)|all_hematologic(541;0.131) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GAATTCTTTGATGTACAATGA 0.368000 69 7 0 0 1 0 0 OR7G1 125962 broad.mit.edu 37 19 9226362 9226362 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr19:9226362G>A uc021uoi.1 - 0 78 c.78C>T c.(76-78)atC>atT p.I26I OR7G1_uc002mks.1_Silent_p.I26I NM_001005192 NP_001005192 Q8NGA0 OR7G1_HUMAN Homo sapiens olfactory receptor, family 7, subfamily G, member 1 (OR7G1), mRNA. 26 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2) 20 GGCTGAAAGGGATTAACTTCA 0.483000 90 13 0 0 1 0 0 IL1RL1 9173 broad.mit.edu 37 2 102965706 102965706 + Splice_Site SNP G T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr2:102965706G>T uc002tbu.1 + 10 1556 c.1285_splice c.e10+1 p.D429_splice IL18R1_uc002tbw.4_Intron NM_016232 NP_057316 Q01638 ILRL1_HUMAN Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA. 429 TIR. innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1) 16 ACCTGGAGAAGGTAAAGCTAT 0.388000 55 14 1.15088e-07 1.18179e-07 1 1 0 DFNA5 1687 broad.mit.edu 37 7 24738754 24738754 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr7:24738754C>T uc010kus.1 - 9 1470 c.1382G>A c.(1381-1383)aGa>aAa p.R461K DFNA5_uc003sxa.1_Missense_Mutation_p.R461K|DFNA5_uc010kut.1_Missense_Mutation_p.R297K NM_001127453 NP_001120926 O60443 DFNA5_HUMAN Homo sapiens deafness, autosomal dominant 5 (DFNA5), transcript variant 2, mRNA. 461 sensory perception of sound endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1) 19 TGACTTCAGTCTCTCCAGACT 0.453000 31 23 0 0 1 0 0 ANPEP 290 broad.mit.edu 37 15 90342782 90342782 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr15:90342782C>T uc002bop.4 - 12 2120 c.1828G>A c.(1828-1830)Gat>Aat p.D610N NM_001150 NP_001141 P15144 AMPN_HUMAN Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA. 610 Metalloprotease. angiogenesis|cell differentiation|interspecies interaction between organisms ER-Golgi intermediate compartment|cytosol|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 57 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) CTGAAGAGATCGTTCTGGGCT 0.592000 95 49 0 0 1 0 0 RPS6KL1 83694 broad.mit.edu 37 14 75376523 75376523 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr14:75376523C>T uc010tux.2 - 6 1521 c.993G>A c.(991-993)agG>agA p.R331R RPS6KL1_uc010asd.2_Non-coding_Transcript|RPS6KL1_uc001xqx.1_Silent_p.R83R|RPS6KL1_uc021rwp.1_Silent_p.R300R NM_031464 NP_113652 Q9Y6S9 RPKL1_HUMAN Homo sapiens ribosomal protein S6 kinase-like 1 (RPS6KL1), mRNA. 331 Protein kinase. ribosome ATP binding|protein serine/threonine kinase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(234;0.00658) GGCCAGCCCTCCTAGCTTGAA 0.682000 9 7 0 0 1 0 0 POM121 9883 broad.mit.edu 37 7 72413237 72413237 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr7:72413237C>T uc003twk.2 + 10 2705 c.2705C>T c.(2704-2706)tCc>tTc p.S902F POM121_uc003twj.3_Missense_Mutation_p.S637F|POM121_uc010lam.1_Missense_Mutation_p.S637F NM_172020 NP_742017 Q96HA1 P121A_HUMAN Homo sapiens POM121 membrane glycoprotein (POM121), mRNA. 902 Pore side (Potential).|Thr-rich. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) TTCAGCCAGTCCCTGCACACT 0.647000 234 72 0 0 1 0 0 TBX19 9095 broad.mit.edu 37 1 168278023 168278023 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:168278023G>A uc001gfl.3 + 6 1011 c.960G>A c.(958-960)tcG>tcA p.S320S TBX19_uc001gfj.4_Silent_p.S188S|TBX19_uc001gfm.3_Silent_p.S23S NM_005149 NP_005140 O60806 TBX19_HUMAN Homo sapiens T-box 19 (TBX19), mRNA. 320 anatomical structure morphogenesis nucleus DNA binding NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1) 34 all_hematologic(923;0.215) AAGTTTTCTCGGGACCTGACA 0.463000 77 25 0 0 1 0 0 B4GALNT3 283358 broad.mit.edu 37 12 654081 654081 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr12:654081C>T uc001qii.1 + 4 481 c.481C>T c.(481-483)Ccc>Tcc p.P161S B4GALNT3_uc001qij.1_Missense_Mutation_p.P63S NM_173593 NP_775864 Q6L9W6 B4GN3_HUMAN Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA. 161 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) TGCTGTGTCCCCCAAATGGAC 0.532000 52 40 0 0 1 0 0 RIMS3 9783 broad.mit.edu 37 1 41101626 41101626 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:41101626G>A uc001cfu.1 - 3 786 c.321C>T c.(319-321)tcC>tcT p.S107S RIMS3_uc001cfv.1_Silent_p.S107S NM_014747 NP_055562 Q9UJD0 RIMS3_HUMAN Homo sapiens regulating synaptic membrane exocytosis 3 (RIMS3), mRNA. 107 neurotransmitter transport cell junction|synapse NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.47e-17) TCCCATCGGTGGACTCCCGGC 0.687000 62 10 0 0 1 0 0 SLC30A4 7782 broad.mit.edu 37 15 45782997 45782997 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr15:45782997G>A uc001zvj.3 - 3 933 c.621C>T c.(619-621)atC>atT p.I207I NM_013309 NP_037441 O14863 ZNT4_HUMAN Homo sapiens solute carrier family 30 (zinc transporter), member 4 (SLC30A4), mRNA. 207 regulation of sequestering of zinc ion|response to toxin endosome membrane|integral to membrane|late endosome zinc ion transmembrane transporter activity endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1) 15 Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06) AGTTCATATGGATAGTTCTTT 0.343000 36 16 0 0 1 0 0 ADAM21 8747 broad.mit.edu 37 14 70926354 70926354 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr14:70926354C>T uc021rvq.1 + 0 2138 c.2138C>T c.(2137-2139)cCc>cTc p.P713L ADAM21_uc001xmd.3_Missense_Mutation_p.P713L NM_003813 NP_003804 Q9UKJ8 ADA21_HUMAN Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA. 713 proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 31 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) TGTTCTGGTCCCAAAGAAACT 0.373000 51 13 0 0 1 0 0 DPP6 1804 broad.mit.edu 37 7 154143320 154143320 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr7:154143320C>T uc003wlk.3 + 1 394 c.265C>T c.(265-267)Ccg>Tcg p.P89S DPP6_uc003wli.3_Missense_Mutation_p.P25S|DPP6_uc003wlj.3_Missense_Mutation_p.P89S|DPP6_uc010lqh.1_Missense_Mutation_p.P27S|DPP6_uc003wlm.3_Missense_Mutation_p.P27S|DPP6_uc011kvq.2_Missense_Mutation_p.P27S NM_130797 NP_570629 P42658 DPP6_HUMAN Homo sapiens dipeptidyl-peptidase 6 (DPP6), transcript variant 1, mRNA. 89 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) GAGTAACCCTCCGCAGAGGAA 0.423000 40 24 0 0 1 0 0 POLR3D 661 broad.mit.edu 37 8 22107920 22107920 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr8:22107920C>T uc003xbl.3 + 8 1169 c.1086C>T c.(1084-1086)tcC>tcT p.S362S POLR3D_uc003xbm.3_Silent_p.S362S|POLR3D_uc011kze.2_Non-coding_Transcript NM_001722 NP_001713 P05423 RPC4_HUMAN Homo sapiens polymerase (RNA) III (DNA directed) polypeptide D, 44kDa (POLR3D), mRNA. 362 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1) 13 Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061) AGCTGGTGTCCGTGGGCCTTG 0.532000 31 13 0 0 1 0 0 MAP2K6 5608 broad.mit.edu 37 17 67522831 67522831 + Missense_Mutation SNP G C C TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr17:67522831G>C uc002jij.3 + 9 1150 c.862G>C c.(862-864)Gtt>Ctt p.V288L NM_002758 NP_002749 P52564 MP2K6_HUMAN Homo sapiens mitogen-activated protein kinase kinase 6 (MAP2K6), mRNA. 288 Protein kinase. DNA damage induced protein phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|cell cycle arrest|innate immune response|muscle cell differentiation|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1) 20 Breast(10;6.05e-10) TGCAGAGTTTGTTGACTTTAC 0.473000 38 6 0 0 1 0 0 CHST12 55501 broad.mit.edu 37 7 2473033 2473033 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr7:2473033C>T uc003smc.3 + 1 922 c.759C>T c.(757-759)tcC>tcT p.S253S CHST12_uc003smd.3_Silent_p.S253S|CHST12_uc021zyu.1_Silent_p.S253S|CHST12_uc021zyv.1_Silent_p.S253S NM_001243794 NP_001230723 Q9NRB3 CHSTC_HUMAN Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 12 (CHST12), transcript variant 1, mRNA. 253 dermatan sulfate biosynthetic process integral to Golgi membrane 3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 21 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13) GCCTGATCTCCGCCTTCCGCA 0.627000 110 18 0 0 1 0 0 C15orf2 23742 broad.mit.edu 37 15 24921754 24921754 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr15:24921754G>A uc001ywo.3 + 0 1214 c.740G>A c.(739-741)gGa>gAa p.G247E NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 247 cell differentiation|multicellular organismal development|spermatogenesis p.A246A(1) NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8) 140 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) AGCCAGGCCGGATGTGCCCGG 0.622000 42 23 0 0 1 0 0 NELL2 4753 broad.mit.edu 37 12 45169860 45169860 + Missense_Mutation SNP G C C TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr12:45169860G>C uc010skz.1 - 8 1111 c.986C>G c.(985-987)aCc>aGc p.T329S NELL2_uc001rof.3_Missense_Mutation_p.T278S|NELL2_uc001rog.2_Missense_Mutation_p.T279S|NELL2_uc001roh.2_Missense_Mutation_p.T279S|NELL2_uc009zkd.2_Missense_Mutation_p.T278S|NELL2_uc010sla.1_Missense_Mutation_p.T302S|NELL2_uc001roi.1_Missense_Mutation_p.T279S|NELL2_uc010slb.1_Missense_Mutation_p.T278S|NELL2_uc001roj.2_Missense_Mutation_p.T279S NM_001145107 NP_006150 Q99435 NELL2_HUMAN Homo sapiens NEL-like 2 (chicken) (NELL2), transcript variant 1, mRNA. 279 VWFC 1. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) TCGGTAGGTGGTTCCCTTCAT 0.468000 36 5 0 0 1 0 0 SPERT 220082 broad.mit.edu 37 13 46287885 46287885 + Missense_Mutation SNP A T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr13:46287885A>T uc001van.1 + 2 805 c.725A>T c.(724-726)aAg>aTg p.K242M SPERT_uc001vao.2_Missense_Mutation_p.K206M NM_152719 NP_689932 Q8NA61 SPERT_HUMAN Homo sapiens spermatid associated (SPERT), mRNA. 242 cytoplasmic membrane-bounded vesicle NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 15 Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;7.26e-05) CCCCGTGGCAAGGAGGACAGC 0.682000 14 7 0 0 1 0 0 PMS1 5378 broad.mit.edu 37 2 190670413 190670413 + Silent SNP T C C TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr2:190670413T>C uc002urh.4 + 3 880 c.351T>C c.(349-351)ttT>ttC p.F117F PMS1_uc010zga.1_Silent_p.F117F|PMS1_uc010zgb.1_Silent_p.F56F|PMS1_uc002urk.4_Silent_p.F117F|PMS1_uc002uri.4_Silent_p.F117F|PMS1_uc010zgc.2_Intron|PMS1_uc010zgd.2_Intron|PMS1_uc002urj.3_Non-coding_Transcript|PMS1_uc010fry.1_Silent_p.F117F|PMS1_uc010frz.3_Silent_p.F117F|PMS1_uc010zfz.1_Silent_p.F117F NM_000534 NP_000525 P54277 PMS1_HUMAN Homo sapiens PMS1 postmeiotic segregation increased 1 (S. cerevisiae) (PMS1), transcript variant 1, mRNA. 117 mismatch repair|reciprocal meiotic recombination MutLalpha complex ATP binding|ATPase activity|mismatched DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751) CTGATAATTTTAGCACCCAGT 0.353000 """Mis, N""" """colorectal, endometrial, ovarian""" Direct reversal of damage;Mismatch excision repair (MMR) 58 4 0 0 1 0 0 ZNF350 59348 broad.mit.edu 37 19 52469189 52469189 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr19:52469189G>A uc002pyd.3 - 4 745 c.517C>T c.(517-519)Cat>Tat p.H173Y BC014606_uc002pyc.3_Intron NM_021632 NP_067645 Q9GZX5 ZN350_HUMAN Homo sapiens zinc finger protein 350 (ZNF350), mRNA. 173 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix|transcriptional repressor complex DNA binding|protein binding|zinc ion binding breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 all_neural(266;0.0505) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179) ATTGCAGTATGAAGTCGTTCA 0.378000 59 51 0 0 1 0 0 PRRC2C 23215 broad.mit.edu 37 1 171501964 171501964 + Silent SNP A G G TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:171501964A>G uc010pmg.2 + 11 1997 c.1731A>G c.(1729-1731)ctA>ctG p.L577L PRRC2C_uc001ghr.1_Silent_p.L579L NM_015172 NP_055987 Q9Y520 PRC2C_HUMAN Homo sapiens proline-rich coiled-coil 2C (PRRC2C), mRNA. 577 Glu-rich. protein C-terminus binding aaaaagaaCTACAAAAGATGA 0.373000 18 3 0 0 1 0 0 GABRB1 2560 broad.mit.edu 37 4 47405721 47405721 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr4:47405721C>T uc003gxh.3 + 6 1202 c.828C>T c.(826-828)gtC>gtT p.V276V GABRB1_uc011bze.2_Silent_p.V206V NM_000812 NP_000803 P18505 GBRB1_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA. 276 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) CAGCCAGAGTCGCACTAGGTA 0.398000 35 16 0 0 1 0 0 CEP104 9731 broad.mit.edu 37 1 3756225 3756225 + Nonsense_Mutation SNP C A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:3756225C>A uc001aky.2 - 6 1041 c.682G>T c.(682-684)Gaa>Taa p.E228* CEP104_uc010nzm.1_Non-coding_Transcript|CEP104_uc001akz.3_Nonsense_Mutation_p.E228* NM_014704 NP_055519 O60308 CE104_HUMAN Homo sapiens centrosomal protein 104kDa (CEP104), mRNA. 228 centriole binding breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3) 39 TCATAGCGTTCCTTTTGGACA 0.383000 129 14 4.93089e-13 5.11993e-13 1 1 0 SLAMF6 114836 broad.mit.edu 37 1 160492959 160492959 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:160492959G>A uc001fwe.2 - 0 94 c.24C>T c.(22-24)ctC>ctT p.L8L SLAMF6_uc010pji.2_Silent_p.L8L|SLAMF6_uc001fwd.2_Silent_p.L8L|SLAMF6_uc010pjh.2_Silent_p.L8L|SLAMF6_uc010pjj.2_Silent_p.L8L|SLAMF6_uc009wtm.2_Silent_p.L8L NM_001184714 NP_001171643 Q96DU3 SLAF6_HUMAN Homo sapiens SLAM family member 6 (SLAMF6), transcript variant 1, mRNA. 8 integral to membrane|plasma membrane receptor activity p.S7L(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4) 22 all_cancers(52;1.05e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0923) AGACAAACAGGAGCGATTGGA 0.473000 38 14 0 0 1 0 0 LRRC15 131578 broad.mit.edu 37 3 194080161 194080161 + Missense_Mutation SNP C G G rs141299685 TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr3:194080161C>G uc003ftt.3 - 2 1755 c.1630G>C c.(1630-1632)Ggg>Cgg p.G544R LRRC15_uc003ftu.3_Missense_Mutation_p.G538R|LRRC15_uc021xiy.1_Missense_Mutation_p.G538R NM_001135057 NP_570843 Q8TF66 LRC15_HUMAN Homo sapiens leucine rich repeat containing 15 (LRRC15), transcript variant 1, mRNA. 538 integral to membrane p.G538W(1) biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.94e-05) ATGGCCAGCCCGCTCTGGGCC 0.592000 65 8 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 70042896 70042896 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr6:70042896G>A uc010kak.3 + 22 3460 c.3184G>A c.(3184-3186)Gcc>Acc p.A1062T BAI3_uc003pev.4_Missense_Mutation_p.A1062T|BAI3_uc011dxx.2_Missense_Mutation_p.A268T NM_001704 NP_001695 O60242 BAI3_HUMAN Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA. 1062 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) CAAACACAGAGCCGGGTAAGC 0.393000 11 6 0 0 1 0 0 KLHDC7A 127707 broad.mit.edu 37 1 18808875 18808875 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:18808875G>A uc001bax.3 + 0 1452 c.1400G>A c.(1399-1401)cGc>cAc p.R467H KLHDC7A_uc009vpg.3_Missense_Mutation_p.R249H NM_152375 NP_689588 Q5VTJ3 KLD7A_HUMAN Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA. 467 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CAGGTGCTGCGCAGCCCGGAC 0.642000 102 22 0 0 1 0 0 RET 5979 broad.mit.edu 37 10 43606732 43606732 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr10:43606732C>T uc001jal.3 + 6 1531 c.1341C>T c.(1339-1341)gcC>gcT p.A447A RET_uc001jak.1_Silent_p.A447A|RET_uc010qez.1_Silent_p.A193A NM_020975 NP_066124 P07949 RET_HUMAN Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA. 447 homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) CCTCTGGTGCCAACTGCAGCA 0.597000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 110 26 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72993824 72993824 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr16:72993824G>A uc002fck.3 - 1 894 c.221C>T c.(220-222)cCc>cTc p.P74L ZFHX3_uc002fcl.3_Intron NM_006885 NP_008816 Q15911 ZFHX3_HUMAN Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA. 74 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) CTTGCTGGCGGGCTCGGAGGG 0.711000 20 10 0 0 1 0 0 IGFN1 91156 broad.mit.edu 37 1 201195154 201195154 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:201195154C>T uc001gwc.3 + 21 10819 c.10689C>T c.(10687-10689)ccC>ccT p.P3563P IGFN1_uc001gwb.3_Non-coding_Transcript NM_001164586 NP_001158058 Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA. autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 GCATCCTCCCCGGCCACGAAT 0.667000 62 13 0 0 1 0 0 CHD9 80205 broad.mit.edu 37 16 53191433 53191433 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr16:53191433C>T uc002ehb.3 + 0 1596 c.1432C>T c.(1432-1434)Cac>Tac p.H478Y CHD9_uc002egy.3_Missense_Mutation_p.H478Y|CHD9_uc002egz.1_Missense_Mutation_p.H478Y|CHD9_uc002ehc.3_Missense_Mutation_p.H478Y NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA. 478 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) TGACAGAAATCACCTATGTTT 0.413000 35 10 0 0 1 0 0 NRK 203447 broad.mit.edu 37 X 105152793 105152793 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chrX:105152793G>A uc004emd.3 + 12 1463 c.1160G>A c.(1159-1161)gGg>gAg p.G387E NRK_uc010npc.1_Missense_Mutation_p.G55E NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Homo sapiens Nik related kinase (NRK), mRNA. 387 ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 GTCCTGCATGGGGAACCCTCT 0.537000 HNSCC(51;0.14) 20 16 0 0 1 0 0 ODZ1 10178 broad.mit.edu 37 X 123785786 123785786 + Silent SNP T G G TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chrX:123785786T>G uc010nqy.3 - 7 1621 c.1557A>C c.(1555-1557)gtA>gtC p.V519V ODZ1_uc011muj.2_Silent_p.V518V|ODZ1_uc004euj.3_Silent_p.V519V NM_001163278 NP_001156750 Q9UKZ4 TEN1_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA. 519 immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 212 TTAACACGAATACTTGCTCCA 0.408000 40 36 0 0 1 0 0 USP33 23032 broad.mit.edu 37 1 78184297 78184297 + Missense_Mutation SNP A C C TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:78184297A>C uc001dht.3 - 16 2161 c.1814T>G c.(1813-1815)gTa>gGa p.V605G USP33_uc001dhs.3_Missense_Mutation_p.V326G|USP33_uc001dhu.3_Missense_Mutation_p.V574G|USP33_uc001dhv.3_Missense_Mutation_p.V410G|USP33_uc001dhw.3_Missense_Mutation_p.V597G NM_015017 NP_963918 Q8TEY7 UBP33_HUMAN Homo sapiens ubiquitin specific peptidase 33 (USP33), transcript variant 1, mRNA. 605 axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process VCB complex|perinuclear region of cytoplasm G-protein-coupled receptor binding|cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 44 AAAGTTTTGTACTTTACAAAA 0.274000 49 3 0 0 1 0 0 GPR137C 283554 broad.mit.edu 37 14 53100254 53100254 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr14:53100254G>A uc001wzt.4 + 5 922 c.922G>A c.(922-924)Gta>Ata p.V308I GPR137C_uc001wzu.4_Missense_Mutation_p.V292I NM_001099652 NP_001093122 Q8N3F9 G137C_HUMAN Homo sapiens G protein-coupled receptor 137C (GPR137C), mRNA. 292 integral to membrane NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 8 Breast(41;0.0716) ACAGGCTCATGTAGAAGACAT 0.398000 28 19 0 0 1 0 0 PTPRN2 5799 broad.mit.edu 37 7 157370803 157370803 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr7:157370803G>A uc003wno.3 - 17 2647 c.2526C>T c.(2524-2526)atC>atT p.I842I PTPRN2_uc003wnp.3_Silent_p.I825I|PTPRN2_uc003wnq.3_Silent_p.I813I|PTPRN2_uc003wnr.3_Silent_p.I804I|PTPRN2_uc011kwa.2_Silent_p.I865I NM_002847 NP_002838 Q92932 PTPR2_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA. 842 Tyrosine-protein phosphatase. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) TCAGCATGACGATCACCACGC 0.592000 33 33 0 0 1 0 0 PLA2G3 50487 broad.mit.edu 37 22 31532893 31532893 + Splice_Site SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr22:31532893C>T uc003aka.3 - 5 1328 c.1199_splice c.e5+1 p.R400_splice NM_015715 NP_056530 Q9NZ20 PA2G3_HUMAN Homo sapiens phospholipase A2, group III (PLA2G3), mRNA. 400 cilium morphogenesis|lipid catabolic process|phospholipid metabolic process centriole|extracellular space|plasma membrane calcium ion binding|calcium-dependent phospholipase A2 activity large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 18 AGGGGCCTCACCGGCGCGTGC 0.682000 28 8 0 0 1 0 0 CYP4F12 66002 broad.mit.edu 37 19 15795921 15795921 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr19:15795921C>T uc002nbl.3 + 8 1148 c.1029C>T c.(1027-1029)aaC>aaT p.N343N NM_023944 NP_076433 Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA. NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) TCCTGTACAACCTTGCGAGGC 0.592000 41 18 0 0 1 0 0 C3AR1 719 broad.mit.edu 37 12 8212039 8212039 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr12:8212039C>T uc001qtv.1 - 1 835 c.743G>A c.(742-744)aGg>aAg p.R248K C3AR1_uc021quj.1_Missense_Mutation_p.R248K NM_004054 NP_004045 Q16581 C3AR_HUMAN Homo sapiens complement component 3a receptor 1 (C3AR1), mRNA. 248 blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response integral to plasma membrane C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1) 20 Kidney(36;0.0893) ACTTGTTAACCTAGCAGAACC 0.423000 86 4 0 0 1 0 0 PLA2G4A 5321 broad.mit.edu 37 1 186925441 186925441 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:186925441C>T uc001gsc.3 + 13 1749 c.1544C>T c.(1543-1545)tCc>tTc p.S515F PLA2G4A_uc010pos.2_Missense_Mutation_p.S455F NM_024420 NP_077734 P47712 PA24A_HUMAN Homo sapiens phospholipase A2, group IVA (cytosolic, calcium-dependent) (PLA2G4A), mRNA. 515 PLA2c. phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation cytosol|endoplasmic reticulum membrane calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1) 53 Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103) ACACAGGACTCCTTTGATGAT 0.438000 142 61 0 0 1 0 0 KDM5B 10765 broad.mit.edu 37 1 202777350 202777351 + Missense_Mutation DNP AG CA CA TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:202777350_202777351AG>CA uc009xag.3 - 0 199_200 c.83_84CT>TG c.(82-84)cct>cTG p.P28L KDM5B_uc001gyf.3_Missense_Mutation_p.P28L|KDM5B_uc001gyg.1_5'Flank NM_006618 NP_006609 Q9UGL1 KDM5B_HUMAN Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA. 28 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 ACTCGGGTGGAGGCAGGAACTC 0.703000 54 20 0 0 1 0 0 CSRP2BP 57325 broad.mit.edu 37 20 18143519 18143519 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr20:18143519C>T uc021wbb.1 + 5 2038 c.1601C>T c.(1600-1602)tCc>tTc p.S534F CSRP2BP_uc002wqk.3_Missense_Mutation_p.S406F|CSRP2BP_uc010zru.2_Missense_Mutation_p.S405F NM_020536 NP_065397 Q9H8E8 CSR2B_HUMAN Homo sapiens CSRP2 binding protein (CSRP2BP), transcript variant 1, mRNA. 534 histone H3 acetylation Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm LIM domain binding|N-acetyltransferase activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1) 34 GGAGGAATTTCCAGACTTCCA 0.453000 56 22 0 0 1 0 0 SAFB 6294 broad.mit.edu 37 19 5653155 5653155 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr19:5653155C>T uc002mcg.3 + 9 1494 c.1323C>T c.(1321-1323)gcC>gcT p.A441A SAFB_uc002mcf.3_Silent_p.A441A|SAFB_uc002mce.4_Silent_p.A441A|SAFB_uc010xis.2_Silent_p.A372A|SAFB_uc010xit.2_Silent_p.A284A|SAFB_uc010xir.2_Silent_p.A441A|SAFB_uc010xiu.2_Silent_p.A240A NM_001201338 NP_001188267 Q15424 SAFB1_HUMAN Homo sapiens scaffold attachment factor B (SAFB), transcript variant 1, mRNA. 441 RRM. chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus RNA binding|double-stranded DNA binding|nucleotide binding|protein binding breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1) 23 UCEC - Uterine corpus endometrioid carcinoma (162;0.000222) TGACAAATGCCCGGAGTCCTG 0.542000 43 6 0 0 1 0 0 DEFB124 245937 broad.mit.edu 37 20 30060796 30060796 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr20:30060796G>A uc002wvz.1 - 0 21 c.21C>T c.(19-21)ttC>ttT p.F7F BC016143_uc021wbr.1_5'Flank|REM1_uc002wwa.3_5'Flank NM_001037500 NP_001032589 Q8NES8 DB124_HUMAN Homo sapiens defensin, beta 124 (DEFB124), mRNA. 7 defense response to bacterium extracellular region Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) GAGCCACAAGGAACAGAAGCA 0.562000 72 9 0 0 1 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125175121 125175121 + Silent SNP C A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr2:125175121C>A uc010flu.3 + 3 847 c.483C>A c.(481-483)ccC>ccA p.P161P CNTNAP5_uc002tno.3_Silent_p.P161P NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA. 161 F5/8 type C. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) AATGGAATCCCAGTGGGAAGA 0.507000 19 4 5.9392e-07 6.06994e-07 1 1 0 KIAA0513 9764 broad.mit.edu 37 16 85112545 85112545 + Missense_Mutation SNP C A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr16:85112545C>A uc002fiu.3 + 7 1058 c.838C>A c.(838-840)Ccc>Acc p.P280T KIAA0513_uc010voj.2_Missense_Mutation_p.P280T|KIAA0513_uc002fit.3_Missense_Mutation_p.P280T NM_014732 NP_055547 O60268 K0513_HUMAN Homo sapiens KIAA0513 (KIAA0513), mRNA. 280 cytoplasm breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1) 18 BRCA - Breast invasive adenocarcinoma(80;0.234) CGCGTACAGCCCCGAGGACGA 0.607000 77 6 0.0293803 0.029471 1 1 0 SGK223 157285 broad.mit.edu 37 8 8235435 8235435 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr8:8235435C>T uc003wsh.4 - 1 484 c.484G>A c.(484-486)Gtc>Atc p.V162I NM_001080826 NP_001074295 Q86YV5 SG223_HUMAN Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA. 162 ATP binding|non-membrane spanning protein tyrosine kinase activity TGCAGGCCGACCATGGTGTAA 0.602000 69 23 0 0 1 0 0 CCDC134 79879 broad.mit.edu 37 22 42209358 42209358 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr22:42209358C>T uc003bbh.1 + 4 510 c.401C>T c.(400-402)tCc>tTc p.S134F bK250D10.C22.8_uc003bba.1_Intron|CCDC134_uc011apg.1_Intron NM_024821 NP_079097 Q9H6E4 CC134_HUMAN Homo sapiens coiled-coil domain containing 134 (CCDC134), mRNA. 134 extracellular region large_intestine(1)|lung(2)|ovary(2)|skin(1) 6 GACCACAACTCCAACTGGAAC 0.577000 95 30 0 0 1 0 0 CDC45 8318 broad.mit.edu 37 22 19502376 19502376 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr22:19502376C>T uc011aha.2 + 14 1496 c.1418C>T c.(1417-1419)tCc>tTc p.S473F CDC45_uc011agz.1_Missense_Mutation_p.S436F|CDC45_uc002zpr.3_Missense_Mutation_p.S441F|CDC45_uc002zpt.3_Missense_Mutation_p.S395F NM_001178010 NP_001171481 O75419 CDC45_HUMAN Homo sapiens cell division cycle 45 homolog (S. cerevisiae) (CDC45), transcript variant 1, mRNA. 441 DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle centrosome|nucleoplasm protein binding p.L473L(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 19 CTCGTCATCTCCCAGGGGCCT 0.592000 90 68 0 0 1 0 0 PRPF38A 84950 broad.mit.edu 37 1 52879611 52879611 + Missense_Mutation SNP C T T rs142879021 TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:52879611C>T uc001ctv.4 + 5 873 c.670C>T c.(670-672)Cgt>Tgt p.R224C PRPF38A_uc001ctw.4_Silent_p.P34P NM_032864 NP_116253 Q8NAV1 PR38A_HUMAN Homo sapiens PRP38 pre-mRNA processing factor 38 (yeast) domain containing A (PRPF38A), mRNA. 224 Arg-rich. RNA splicing|mRNA processing spliceosomal complex cervix(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|stomach(1) 9 GGACAAGCCCCGTCGCTCTCC 0.532000 39 7 0 0 1 0 0 HOXB3 3213 broad.mit.edu 37 17 46628027 46628027 + Missense_Mutation SNP G T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr17:46628027G>T uc002inn.3 - 1 1365 c.965C>A c.(964-966)cCt>cAt p.P322H HOXB3_uc010wlm.2_Missense_Mutation_p.P249H|HOXB3_uc010dbf.3_Missense_Mutation_p.P322H|HOXB3_uc010dbg.3_Missense_Mutation_p.P322H|HOXB3_uc002ino.3_Missense_Mutation_p.P322H|HOXB3_uc010wlk.2_Missense_Mutation_p.P190H|HOXB3_uc010wll.2_Missense_Mutation_p.P249H NM_002146 NP_002137 P14651 HXB3_HUMAN Homo sapiens homeobox B3 (HOXB3), mRNA. 322 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1) 30 CGGGGTCGGAGGGTACTTCTG 0.701000 OREG0024516 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 127 20 1.85244e-09 1.90822e-09 1 1 0 NOS1 4842 broad.mit.edu 37 12 117691498 117691498 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr12:117691498C>T uc001twn.2 - 17 3406 c.2695G>A c.(2695-2697)Gat>Aat p.D899N NOS1_uc021ren.1_Missense_Mutation_p.D529N|NOS1_uc021reo.1_Missense_Mutation_p.D529N|NOS1_uc001twm.2_Missense_Mutation_p.D865N NM_001204218 NP_001191147 P29475 NOS1_HUMAN Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA. 865 Flavodoxin-like. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) TCGGGCCCATCGCCTGATGAT 0.562000 76 34 0 0 1 0 0 AADACL4 343066 broad.mit.edu 37 1 12726437 12726437 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:12726437C>T uc001auf.3 + 3 915 c.915C>T c.(913-915)ggC>ggT p.G305G NM_001013630 NP_001013652 Q5VUY2 ADCL4_HUMAN Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA. 305 integral to membrane carboxylesterase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1) 17 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384) GGTCTCCCGGCCCTTTTAATG 0.502000 103 81 0 0 1 0 0 KCTD16 57528 broad.mit.edu 37 5 143586400 143586400 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr5:143586400C>T uc003lnm.1 + 2 752 c.123C>T c.(121-123)tcC>tcT p.S41S KCTD16_uc003lnn.1_Silent_p.S41S NM_020768 NP_065819 Q68DU8 KCD16_HUMAN Homo sapiens potassium channel tetramerisation domain containing 16 (KCTD16), mRNA. 41 BTB. cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 21 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) CTCGCCATTCCACATTGATAA 0.478000 42 11 0 0 1 0 0 NMBR 4829 broad.mit.edu 37 6 142399728 142399729 + Missense_Mutation DNP AT GA GA TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr6:142399728_142399729AT>GA uc003qiu.3 - 1 875_876 c.734_735AT>TC c.(733-735)aat>aTC p.N245I NM_002511 NP_002502 P28336 NMBR_HUMAN Homo sapiens neuromedin B receptor (NMBR), mRNA. 245 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger cytoplasm|integral to plasma membrane bombesin receptor activity breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013) CTCCAGGAAGATTGTGTGCGCT 0.356000 26 9 0 0 1 0 0 USP48 84196 broad.mit.edu 37 1 22073613 22073613 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:22073613G>A uc010odq.2 - 7 1176 c.938C>T c.(937-939)aCc>aTc p.T313I USP48_uc001bfb.3_Missense_Mutation_p.T313I|USP48_uc009vqc.3_Missense_Mutation_p.T313I|USP48_uc001bfc.3_Missense_Mutation_p.T313I|USP48_uc001bfe.1_Missense_Mutation_p.T313I|USP48_uc001bff.3_Missense_Mutation_p.T313I NM_032236 NP_115612 Q86UV5 UBP48_HUMAN Homo sapiens ubiquitin specific peptidase 48 (USP48), transcript variant 1, mRNA. 313 ubiquitin-dependent protein catabolic process mitochondrion|nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753) GCCAATGTAGGTATTCAGCTT 0.313000 26 4 0 0 1 0 0 OR1I1 126370 broad.mit.edu 37 19 15198407 15198407 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr19:15198407C>T uc010xoe.2 + 0 531 c.531C>T c.(529-531)ttC>ttT p.F177F NM_001004713 NP_001004713 O60431 OR1I1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily I, member 1 (OR1I1), mRNA. 177 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2) 20 TCTCCCACTTCTTCTGTGACC 0.557000 69 10 0 0 1 0 0 DKKL1 27120 broad.mit.edu 37 19 49867985 49867985 + Nonsense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr19:49867985C>T uc002pnk.3 + 1 371 c.157C>T c.(157-159)Caa>Taa p.Q53* TEAD2_uc002pni.3_5'Flank|TEAD2_uc002pnj.3_5'Flank|TEAD2_uc010yao.2_5'Flank|TEAD2_uc010emw.3_5'Flank|DKKL1_uc021uxk.1_5'UTR|DKKL1_uc021uxl.1_Nonsense_Mutation_p.Q53* NM_014419 NP_001184231 Q9UK85 DKKL1_HUMAN Homo sapiens dickkopf-like 1 (DKKL1), transcript variant 1, mRNA. 53 anatomical structure morphogenesis extracellular space protein binding|signal transducer activity large_intestine(2)|upper_aerodigestive_tract(1) 3 all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456) GAGCCTACTCCAAGGCTTCAG 0.577000 98 12 0 0 1 0 0 IFT80 57560 broad.mit.edu 37 3 159995214 159995214 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr3:159995214G>A uc021xgr.1 - 16 2025 c.1979C>T c.(1978-1980)tCa>tTa p.S660L IFT80_uc003fda.3_Non-coding_Transcript|IFT80_uc003fdb.2_Missense_Mutation_p.S523L|IFT80_uc021xgq.1_Missense_Mutation_p.S658L|IFT80_uc003fde.2_Missense_Mutation_p.S523L|IFT80_uc003fdd.2_Missense_Mutation_p.S343L NM_020800 NP_065851 Q9P2H3 IFT80_HUMAN Homo sapiens intraflagellar transport 80 homolog (Chlamydomonas) (IFT80), transcript variant 1, mRNA. 660 cilium axoneme|microtubule basal body NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) GGCCATTTTTGATTCTTTAGA 0.313000 43 10 0 0 1 0 0 AMBRA1 55626 broad.mit.edu 37 11 46419476 46419476 + Missense_Mutation SNP C A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr11:46419476C>A uc001ncv.2 - 19 3744 c.3430G>T c.(3430-3432)Ggt>Tgt p.G1144C AMBRA1_uc010rgt.1_3'UTR|AMBRA1_uc009ylc.1_Missense_Mutation_p.G1112C|AMBRA1_uc001ncu.1_Missense_Mutation_p.G1051C|AMBRA1_uc010rgu.1_Missense_Mutation_p.G1141C|AMBRA1_uc001ncw.2_Missense_Mutation_p.G1022C|AMBRA1_uc001ncx.2_Missense_Mutation_p.G1081C NM_017749 NP_060219 Q9C0C7 AMRA1_HUMAN Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA. 1141 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle p.W1143C(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 39 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) CCACTGGCACCATACTCTGAA 0.627000 41 3 1 1 1 1 0 SAFB2 9667 broad.mit.edu 37 19 5587889 5587889 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr19:5587889G>A uc002mcd.3 - 18 2840 c.2628C>T c.(2626-2628)gcC>gcT p.A876A NM_014649 NP_055464 Q14151 SAFB2_HUMAN Homo sapiens scaffold attachment factor B2 (SAFB2), mRNA. 876 Gly-rich.|Interacts with SAFB1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|RNA binding|nucleotide binding|protein binding endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 UCEC - Uterine corpus endometrioid carcinoma (162;0.000228) CTTGCCACCTGGCGTGCTCCC 0.687000 25 5 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31311980 31311980 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr18:31311980G>A uc010dmg.1 + 8 983 c.928G>A c.(928-930)Gaa>Aaa p.E310K ASXL3_uc002kxq.2_Missense_Mutation_p.E17K NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA. 310 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 TCTAAATAATGAATTCTTTGC 0.378000 68 21 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179552841 179552841 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr2:179552841C>T uc021vsy.1 - 123 28801 c.28576G>A c.(28576-28578)Gaa>Aaa p.E9526K TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6187K|TTN_uc010fre.1_Intron NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 10453 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) TGTTTACCTTCATATTCTGTA 0.393000 70 13 0 0 1 0 0 PTCH2 8643 broad.mit.edu 37 1 45292715 45292715 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:45292715G>A uc010olf.2 - 16 2566 c.2554C>T c.(2554-2556)Cca>Tca p.P852S PTCH2_uc021omv.1_Missense_Mutation_p.P852S|PTCH2_uc010olg.2_Missense_Mutation_p.P550S NM_003738 NP_003729 Q9Y6C5 PTC2_HUMAN Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA. 852 protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) AGCTCGGGTGGAATCAGTCCC 0.627000 Basal Cell Nevus syndrome 153 60 0 0 1 0 0 ANKRD5 63926 broad.mit.edu 37 20 10030861 10030861 + Splice_Site SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr20:10030861G>A uc002wno.3 + 7 2036 c.1643_splice c.e7+1 p.G548_splice LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Splice_Site_p.G548_splice|ANKRD5_uc010gbz.3_Splice_Site_p.G359_splice NM_022096 NP_942093 Q9NU02 ANKR5_HUMAN Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA. 548 calcium ion binding breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 37 TTGAAAAAGGGTACGCGTCTC 0.398000 32 10 0 0 1 0 0 EYA2 2139 broad.mit.edu 37 20 45633718 45633718 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr20:45633718C>T uc002xsm.3 + 3 667 c.293C>T c.(292-294)tCc>tTc p.S98F EYA2_uc010ghp.3_Missense_Mutation_p.S98F|EYA2_uc002xsq.3_Missense_Mutation_p.S98F NM_005244 NP_005235 O00167 EYA2_HUMAN Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA. 98 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0241) GGAATCCCTTCCTACAGTGAG 0.512000 55 9 0 0 1 0 0 CHRDL2 25884 broad.mit.edu 37 11 74414498 74414498 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr11:74414498G>A uc001ovh.3 - 7 1051 c.798C>T c.(796-798)caC>caT p.H266H CHRDL2_uc001ovg.3_Silent_p.H150H|CHRDL2_uc001ovi.3_Silent_p.H266H|CHRDL2_uc001ovj.1_Non-coding_Transcript|CHRDL2_uc001ovk.1_Intron NM_015424 NP_056239 Q6WN34 CRDL2_HUMAN Homo sapiens chordin-like 2 (CHRDL2), mRNA. 266 VWFC 3. cartilage development|cell differentiation|ossification extracellular region|mitochondrion endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2) 15 Hepatocellular(1;0.098) GGAAGGCCGGGTGCCACACCT 0.647000 12 12 0 0 1 0 0 GPS2 2874 broad.mit.edu 37 17 7224553 7224553 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr17:7224553C>T uc002gga.1 - 19 3245 c.3238G>A c.(3238-3240)Ggt>Agt p.G1080S GPS2_uc002gfy.1_5'Flank|GPS2_uc002gfz.1_5'Flank|GPS2_uc002ggb.1_Missense_Mutation_p.G1078S NM_032442 NP_115818 Q13227 GPS2_HUMAN Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA. 0 JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter transcriptional repressor complex GTPase inhibitor activity|protein binding|transcription corepressor activity breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4) 24 Prostate(122;0.157) ATTGACACACCGCGGACTGGC 0.577000 26 17 0 0 1 0 0 CYP3A43 64816 broad.mit.edu 37 7 99454465 99454465 + Missense_Mutation SNP G T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr7:99454465G>T uc003ury.1 + 8 911 c.808G>T c.(808-810)Gat>Tat p.D270Y CYP3A43_uc003urx.1_Missense_Mutation_p.D270Y|CYP3A43_uc003urz.1_Missense_Mutation_p.D270Y|CYP3A43_uc003usa.1_Non-coding_Transcript|CYP3A43_uc010lgi.1_Missense_Mutation_p.D160Y|CYP3A43_uc003usb.1_Missense_Mutation_p.D130Y NM_022820 NP_073731 Q9HB55 CP343_HUMAN Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 43 (CYP3A43), transcript variant 1, mRNA. 270 Missing (in allele CYP3A43*2). xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Cetirizine(DB00341)|Doxycycline(DB00254) GCATCGAGTAGATTTCTTTCA 0.438000 70 30 1.62565e-12 1.68528e-12 1 1 0 KCNA5 3741 broad.mit.edu 37 12 5155058 5155058 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr12:5155058C>T uc001qni.3 + 0 1974 c.1745C>T c.(1744-1746)cCc>cTc p.P582L NM_002234 NP_002225 P22460 KCNA5_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA. 582 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 GGCAGCTGCCCCCTAGAGAAG 0.602000 44 5 0 0 1 0 0 GSTO2 119391 broad.mit.edu 37 10 106037800 106037800 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr10:106037800C>T uc001kyb.3 + 3 920 c.292C>T c.(292-294)Cca>Tca p.P98S GSTO2_uc010qqx.2_Missense_Mutation_p.P98S|GSTO2_uc010qqw.1_Missense_Mutation_p.P98S|GSTO2_uc001kyc.3_Missense_Mutation_p.P70S|GSTO2_uc021pxu.1_Missense_Mutation_p.P70S|GSTO2_uc010qqy.2_Missense_Mutation_p.P70S NM_183239 NP_001177943 Q9H4Y5 GSTO2_HUMAN Homo sapiens glutathione S-transferase omega 2 (GSTO2), transcript variant 1, mRNA. 98 GST N-terminal. water-soluble vitamin metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 11 Colorectal(252;0.178) Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155) Glutathione(DB00143) TGATGCTTATCCAGGAAGGAA 0.408000 19 17 0 0 1 0 0 GDF5OS 554250 broad.mit.edu 37 20 34021881 34021881 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr20:34021881C>T uc002xcj.3 + 1 367 c.292C>T c.(292-294)Cgt>Tgt p.R98C GDF5_uc010gfc.1_Silent_p.T444T|GDF5_uc002xck.1_Silent_p.T444T Homo sapiens growth differentiation factor 5 opposite strand, mRNA (cDNA clone MGC:99835 IMAGE:6650156), complete cds. cervix(1)|endometrium(4)|lung(4) 9 CTGCATGATTCGTGGGCTCCA 0.612000 36 24 0 0 1 0 0 TPBG 7162 broad.mit.edu 37 6 83075656 83075657 + Missense_Mutation DNP GG AA AA TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr6:83075656_83075657GG>AA uc003pjn.4 + 2 1914_1915 c.978_979GG>AA c.(976-981)ccggaa>ccAAaa p.E327K TPBG_uc003pjo.3_Missense_Mutation_p.E327K|TPBG_uc021zcc.1_Missense_Mutation_p.E327K NM_006670 NP_006661 Q13641 TPBG_HUMAN Homo sapiens trophoblast glycoprotein (TPBG), transcript variant 1, mRNA. 327 LRRCT. cell adhesion integral to plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1) 15 all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897) BRCA - Breast invasive adenocarcinoma(397;0.107) GTGCATATCCGGAAAAAATGAG 0.545000 54 23 0 0 1 0 0 ZNF184 7738 broad.mit.edu 37 6 27420654 27420654 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr6:27420654C>T uc003njj.3 - 4 1495 c.684G>A c.(682-684)ggG>ggA p.G228G ZNF184_uc010jqv.3_Silent_p.G228G|ZNF184_uc003nji.3_Silent_p.G228G NM_007149 NP_009080 Q99676 ZN184_HUMAN Homo sapiens zinc finger protein 184 (ZNF184), mRNA. 228 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 48 TAAAGGCTTTCCCACATTCAT 0.383000 150 7 0 0 1 0 0 PPM1E 22843 broad.mit.edu 37 17 56833374 56833374 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr17:56833374C>T uc002iwx.3 + 0 143 c.16C>T c.(16-18)Cct>Tct p.P6S PPM1E_uc010ddd.3_5'UTR NM_014906 NP_055721 Q8WY54 PPM1E_HUMAN Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1E (PPM1E), mRNA. 6 protein dephosphorylation cytoplasm|nucleolus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2) 33 Medulloblastoma(34;0.127)|all_neural(34;0.237) BRCA - Breast invasive adenocarcinoma(1;5.76e-11) CGGCTGCATCCCTGAGGAGAA 0.667000 35 45 0 0 1 0 0 C15orf27 123591 broad.mit.edu 37 15 76463419 76463419 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr15:76463419C>T uc002bbq.3 + 6 754 c.599C>T c.(598-600)gCc>gTc p.A200V C15orf27_uc010bkp.3_Missense_Mutation_p.A16V|C15orf27_uc002bbr.3_Missense_Mutation_p.A16V NM_152335 NP_689548 Q2M3C6 CO027_HUMAN Homo sapiens chromosome 15 open reading frame 27 (C15orf27), mRNA. 200 integral to membrane endometrium(1)|large_intestine(1)|lung(10)|pancreas(1) 13 CCCTGGGACGCCATCAGCCTC 0.602000 12 5 0 0 1 0 0 WASH3P 374666 broad.mit.edu 37 15 102515299 102515299 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr15:102515299G>A uc002cdi.3 + 8 1943 c.523G>A c.(523-525)Ggc>Agc p.G175S WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA. p.G374S(10) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TGGGGGCATCGGCAAGGCCAA 0.652000 29 5 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53084615 53084616 + Missense_Mutation DNP CC TT TT TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr8:53084615_53084616CC>TT uc003xqz.2 - 4 961_962 c.805_806GG>AA c.(805-807)ggc>AAc p.G269N ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.G234N|ST18_uc011lds.1_Missense_Mutation_p.G174N|ST18_uc003xra.2_Missense_Mutation_p.G269N|ST18_uc003xrb.2_Missense_Mutation_p.G269N NM_014682 NP_055497 O60284 ST18_HUMAN Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA. 269 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) CTGGGCATTGCCATCCAGGGGT 0.495000 71 19 0 0 1 0 0 DPY19L2P1 554236 broad.mit.edu 37 7 35142691 35142691 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr7:35142691G>A uc003teq.1 - 18 1972 c.865C>T c.(865-867)Ctt>Ttt p.L289F DPY19L2P1_uc003tep.1_Intron|DPY19L2P1_uc010kwz.1_Intron Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA. CTGCGAAAAAGCCAGCCAAAG 0.358000 29 7 0 0 1 0 0 PPP6R3 55291 broad.mit.edu 37 11 68326071 68326071 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr11:68326071C>T uc001onv.3 + 7 1036 c.769C>T c.(769-771)Cac>Tac p.H257Y PPP6R3_uc001onw.3_Missense_Mutation_p.H257Y|PPP6R3_uc001ony.4_Missense_Mutation_p.H257Y|PPP6R3_uc001onx.3_Missense_Mutation_p.H257Y|PPP6R3_uc009ysh.3_Missense_Mutation_p.H257Y|PPP6R3_uc001onu.3_Missense_Mutation_p.H257Y|PPP6R3_uc010rqc.2_Intron|PPP6R3_uc010rqd.2_5'UTR NM_001164160 NP_001157632 Q5H9R7 PP6R3_HUMAN Homo sapiens protein phosphatase 6, regulatory subunit 3 (PPP6R3), transcript variant 4, mRNA. 257 regulation of phosphoprotein phosphatase activity cytoplasm|nucleus protein phosphatase binding breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 AAATATTTTCCACAAGGAGAA 0.363000 44 37 0 0 1 0 0 SLC8A1 6546 broad.mit.edu 37 2 40656238 40656238 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr2:40656238C>T uc002rrx.3 - 0 1207 c.1183G>A c.(1183-1185)Gag>Aag p.E395K SLC8A1_uc002rry.3_Missense_Mutation_p.E395K|SLC8A1_uc002rsb.2_Missense_Mutation_p.E395K|SLC8A1_uc002rrz.3_Missense_Mutation_p.E395K|SLC8A1_uc002rsa.3_Missense_Mutation_p.E395K|SLC8A1_uc002rsd.4_Missense_Mutation_p.E395K|SLC8A1_uc010fan.1_Missense_Mutation_p.E395K|SLC8A1_uc002rsc.1_Missense_Mutation_p.E395K NM_021097 NP_066920 P32418 NAC1_HUMAN Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA. 395 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) GTGTTGACCTCGTGCATGCTG 0.468000 40 11 0 0 1 0 0 APOO 79135 broad.mit.edu 37 X 23897032 23897032 + Splice_Site SNP C A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chrX:23897032C>A uc004dax.3 - 3 475 c.237_splice c.e3+1 p.Q79_splice APOO_uc004day.4_Splice_Site NM_024122 NP_077027 Q9BUR5 APOO_HUMAN Homo sapiens apolipoprotein O (APOO), transcript variant 1, mRNA. 79 lipid transport high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1) 9 ACAGTTGTACCTGACACCAGG 0.458000 48 30 5.45727e-16 5.67556e-16 1 1 0 ENDOU 8909 broad.mit.edu 37 12 48110143 48110143 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr12:48110143G>A uc001rpu.2 - 5 850 c.691C>T c.(691-693)Ctc>Ttc p.L231F ENDOU_uc010sll.2_5'UTR|ENDOU_uc001rpt.2_Missense_Mutation_p.L190F|ENDOU_uc010slm.2_Missense_Mutation_p.L168F|AL831948_uc001rpv.3_5'Flank NM_001172439 NP_001165910 P21128 ENDOU_HUMAN Homo sapiens endonuclease, polyU-specific (ENDOU), transcript variant 1, mRNA. 231 female pregnancy|immune response|proteolysis cytoplasm|extracellular space|plasma membrane RNA binding|endoribonuclease activity|growth factor activity|manganese ion binding|polysaccharide binding|scavenger receptor activity|serine-type peptidase activity autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1) 14 ATCTCTCTGAGGAAGGCGTCC 0.582000 OREG0021752 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 114 30 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55943354 55943354 + Splice_Site SNP C A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr10:55943354C>A uc010qhy.1 - 14 1851 c.1456_splice c.e14-1 p.I486_splice PCDH15_uc010qhq.2_Splice_Site_p.I486_splice|PCDH15_uc010qhr.2_Splice_Site_p.I481_splice|PCDH15_uc021pqv.1_Splice_Site_p.I481_splice|PCDH15_uc021pqw.1_Splice_Site_p.I493_splice|PCDH15_uc010qht.2_Splice_Site_p.I488_splice|PCDH15_uc021pqx.1_Splice_Site_p.I481_splice|PCDH15_uc001jjv.1_Splice_Site_p.I459_splice|PCDH15_uc021pqy.1_Splice_Site_p.I481_splice|PCDH15_uc021pqz.1_Splice_Site_p.I459_splice|PCDH15_uc010qhv.1_Splice_Site_p.I481_splice|PCDH15_uc010qhw.1_Splice_Site_p.I444_splice|PCDH15_uc010qhx.1_Splice_Site_p.I481_splice|PCDH15_uc010qhz.1_Splice_Site_p.I481_splice|PCDH15_uc010qia.1_Splice_Site_p.I459_splice|PCDH15_uc001jju.1_Splice_Site_p.I481_splice|PCDH15_uc010qib.1_Splice_Site_p.I459_splice|PCDH15_uc001jjw.3_Splice_Site_p.I481_splice NM_001142763 NP_001136235 Q96QU1 PCD15_HUMAN Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA. 481 Cadherin 4. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) ATGCTGTTATCTTTGGGAGGA 0.368000 HNSCC(58;0.16) 62 14 3.41278e-10 3.52672e-10 1 1 0 CASC3 22794 broad.mit.edu 37 17 38320146 38320146 + Missense_Mutation SNP G C C TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr17:38320146G>C uc010cwt.1 + 6 1493 c.1198G>C c.(1198-1200)Gag>Cag p.E400Q CASC3_uc010cws.1_Missense_Mutation_p.E400Q|CASC3_uc002hue.3_Missense_Mutation_p.E400Q NM_007359 NP_031385 O15234 CASC3_HUMAN Homo sapiens cancer susceptibility candidate 3 (CASC3), mRNA. 400 Necessary for localization in cytoplasmic stress granules. RNA splicing|mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm RNA binding|identical protein binding|ubiquitin protein ligase binding endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2) 16 TAGGCCCATTGAGAAGAAATC 0.562000 180 4 0 0 1 0 0 SPICE1 152185 broad.mit.edu 37 3 113187000 113187000 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr3:113187000G>A uc003eag.4 - 9 1432 c.1141C>T c.(1141-1143)Cgg>Tgg p.R381W SPICE1_uc003eaf.4_Non-coding_Transcript|SPICE1_uc003eah.1_Missense_Mutation_p.R277W NM_144718 NP_653319 Q8N0Z3 SPICE_HUMAN Homo sapiens spindle and centriole associated protein 1 (SPICE1), mRNA. 381 cell division|mitosis centriole|spindle protein binding NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1) 33 TTAAGGTACCGAACCAGGCGA 0.473000 114 4 0 0 1 0 0 USP9X 8239 broad.mit.edu 37 X 41043842 41043842 + Silent SNP T C C TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chrX:41043842T>C uc004dfb.3 + 22 4105 c.3472T>C c.(3472-3474)Ttg>Ctg p.L1158L USP9X_uc004dfc.3_Silent_p.L1158L NM_001039590 NP_001034679 Q93008 USP9X_HUMAN Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA. 1158 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 AGCCAAGCTTTTGCTAACTGC 0.453000 5 18 0 0 1 0 0 DAOA 267012 broad.mit.edu 37 13 106142360 106142360 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr13:106142360C>T uc001vqb.3 + 3 666 c.392C>T c.(391-393)aCc>aTc p.T131I DAOA-AS1_uc021rmh.1_Non-coding_Transcript|DAOA_uc010tjf.2_Missense_Mutation_p.T60I|DAOA_uc001vpz.3_Non-coding_Transcript|DAOA_uc010agd.3_Non-coding_Transcript|DAOA_uc010tjg.2_Missense_Mutation_p.T103I|DAOA_uc001vqc.3_Non-coding_Transcript|DAOA_uc001vqe.3_Non-coding_Transcript NM_172370 NP_001155286 P59103 DAOA_HUMAN Homo sapiens D-amino acid oxidase activator (DAOA), transcript variant 1, mRNA. 131 Golgi apparatus endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1) 13 Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169) cgaatgtggacctgcaactac 0.468000 19 6 0 0 1 0 0 ARHGAP9 64333 broad.mit.edu 37 12 57868244 57868244 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr12:57868244G>A uc001sod.3 - 17 2208 c.2015C>T c.(2014-2016)tCc>tTc p.S672F ARHGAP9_uc001sny.3_Non-coding_Transcript|ARHGAP9_uc001snz.3_Missense_Mutation_p.S398F|ARHGAP9_uc001soa.3_Missense_Mutation_p.S271F|ARHGAP9_uc001sob.3_Missense_Mutation_p.S582F|ARHGAP9_uc001soc.3_Missense_Mutation_p.S582F|ARHGAP9_uc001soe.1_Missense_Mutation_p.S661F NM_032496 NP_115885 Q9BRR9 RHG09_HUMAN Homo sapiens Rho GTPase activating protein 9 (ARHGAP9), transcript variant 1, mRNA. 601 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1) 30 GBM - Glioblastoma multiforme(3;3.37e-34) CCTCCCATCGGAGGTGACCGC 0.507000 64 5 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117718532 117718532 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr12:117718532C>T uc001twn.2 - 7 2233 c.1522G>A c.(1522-1524)Gag>Aag p.E508K NOS1_uc021ren.1_Missense_Mutation_p.E172K|NOS1_uc021reo.1_Missense_Mutation_p.E172K|NOS1_uc001twm.2_Missense_Mutation_p.E508K NM_001204218 NP_001191147 P29475 NOS1_HUMAN Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA. 508 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) GCTCGCACCTCTGTGAACTGC 0.592000 118 13 0 0 1 0 0 C2orf16 84226 broad.mit.edu 37 2 27804745 27804745 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr2:27804745C>T uc002rkz.4 + 0 5357 c.5306C>T c.(5305-5307)cCc>cTc p.P1769L ZNF512_uc010ylw.2_5'Flank|ZNF512_uc002rlb.3_5'Flank|ZNF512_uc010ylx.2_5'Flank|ZNF512_uc002rlc.3_5'Flank|ZNF512_uc002rla.3_5'Flank|ZNF512_uc010ylv.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.2_5'Flank NM_032266 NP_115642 Q68DN1 CB016_HUMAN Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA. 1769 27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich. breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) CATTGCAGTCCCTCTGAGAGA 0.527000 190 49 0 0 1 0 0 TLR4 7099 broad.mit.edu 37 9 120474738 120474738 + Missense_Mutation SNP G C C TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr9:120474738G>C uc004bjz.3 + 2 623 c.332G>C c.(331-333)gGa>gCa p.G111A TLR4_uc004bkb.3_5'UTR|TLR4_uc004bka.3_Missense_Mutation_p.G71A NM_138554 NP_612564 O00206 TLR4_HUMAN Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA. 111 I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity p.G111*(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 ATATTGACAGGAAACCCCATC 0.433000 35 8 0 0 1 0 0 HS3ST1 9957 broad.mit.edu 37 4 11401063 11401063 + Missense_Mutation SNP C A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr4:11401063C>A uc003gmq.3 - 1 890 c.567G>T c.(565-567)aaG>aaT p.K189N HS3ST1_uc021xmg.1_Missense_Mutation_p.K189N NM_005114 NP_005105 O14792 HS3S1_HUMAN Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 1 (HS3ST1), mRNA. 189 Golgi lumen|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3) 15 GGTTGAGGGCCTTGTAGTCCA 0.587000 43 12 9.31168e-06 9.50171e-06 1 1 0 GPRIN2 9721 broad.mit.edu 37 10 46999656 46999656 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr10:46999656C>T uc001jec.3 + 2 911 c.776C>T c.(775-777)cCc>cTc p.P259L GPRIN2_uc021ppt.1_Missense_Mutation_p.P259L NM_014696 NP_055511 O60269 GRIN2_HUMAN Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA. 259 breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 18 CTGGCCTTTCCCAAACTAGTG 0.622000 140 15 0 0 1 0 0 GPR139 124274 broad.mit.edu 37 16 20043064 20043064 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr16:20043064G>A uc002dgu.1 - 1 1217 c.1055C>T c.(1054-1056)tCc>tTc p.S352F GPR139_uc010vaw.1_Missense_Mutation_p.S259F NM_001002911 NP_001002911 Q6DWJ6 GP139_HUMAN Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA. 352 integral to membrane|plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 30 GAATCACGGGGATACTTTTAT 0.473000 78 20 0 0 1 0 0 NR3C2 4306 broad.mit.edu 37 4 149357561 149357561 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr4:149357561G>A uc003ilj.4 - 1 815 c.452C>T c.(451-453)cCt>cTt p.P151L NR3C2_uc003ilk.4_Missense_Mutation_p.P151L|NR3C2_uc010iph.3_Non-coding_Transcript NM_000901 NP_000892 P08235 MCR_HUMAN Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA. 151 Modulating. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) TAGAGTGGAAGGACGATGGCC 0.468000 103 8 0 0 1 0 0 NEU4 129807 broad.mit.edu 37 2 242758178 242758178 + Missense_Mutation SNP C G G TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr2:242758178C>G uc002wcp.2 + 3 1792 c.1298C>G c.(1297-1299)tCc>tGc p.S433C NEU4_uc010fzr.3_Missense_Mutation_p.S420C|NEU4_uc002wcm.3_Missense_Mutation_p.S420C|NEU4_uc002wco.2_Missense_Mutation_p.S420C|NEU4_uc002wcn.2_Missense_Mutation_p.S432C NM_001167599 NP_001161074 Q8WWR8 NEUR4_HUMAN Homo sapiens sialidase 4 (NEU4), transcript variant 2, mRNA. 420 lysosomal lumen|organelle inner membrane exo-alpha-sialidase activity|protein binding breast(1)|lung(10)|prostate(2)|skin(2) 15 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825) AGCGGCTACTCCGACCTGGCG 0.652000 26 8 0 0 1 0 0 RPTOR 57521 broad.mit.edu 37 17 78919516 78919517 + Missense_Mutation DNP CC TT TT TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr17:78919516_78919517CC>TT uc002jyt.1 + 25 3880_3881 c.3075_3076CC>TT c.(3073-3078)gtcccc>gtTTcc p.P1026S RPTOR_uc010wug.1_Missense_Mutation_p.P868S NM_020761 NP_065812 Q8N122 RPTOR_HUMAN Homo sapiens regulatory associated protein of MTOR, complex 1 (RPTOR), transcript variant 1, mRNA. 1026 TOR signaling cascade|cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|positive regulation of protein serine/threonine kinase activity TORC1 complex|cytosol|lysosome protein complex binding breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 44 ACCCCGGCGTCCCCTCTGTGGT 0.564000 46 32 0 0 1 0 0 TMC7 79905 broad.mit.edu 37 16 19058518 19058518 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr16:19058518C>T uc002dfp.2 + 11 1817 c.1687C>T c.(1687-1689)Ctt>Ttt p.L563F TMC7_uc002dfq.3_Missense_Mutation_p.L563F|TMC7_uc010vap.2_Missense_Mutation_p.L453F NM_024847 NP_079123 Q7Z402 TMC7_HUMAN Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA. 563 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 28 TTTCTCACCCCTTCTCCCTGC 0.502000 321 80 0 0 1 0 0 PRKAA2 5563 broad.mit.edu 37 1 57169955 57169955 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:57169955C>T uc001cyk.4 + 6 1171 c.1100C>T c.(1099-1101)cCa>cTa p.P367L NM_006252 NP_006243 P54646 AAPK2_HUMAN Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA. 367 carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1) 23 AAACCTCATCCAGAAAGGATG 0.473000 76 29 0 0 1 0 0 PMS1 5378 broad.mit.edu 37 2 190742075 190742075 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr2:190742075G>A uc002urh.4 + 12 3241 c.2712G>A c.(2710-2712)atG>atA p.M904I PMS1_uc002urk.4_Missense_Mutation_p.M865I|PMS1_uc002uri.4_Missense_Mutation_p.M742I|PMS1_uc010zgc.2_Missense_Mutation_p.M728I|PMS1_uc010zgd.2_Missense_Mutation_p.M728I|PMS1_uc002urj.3_Non-coding_Transcript|PMS1_uc010frz.3_Missense_Mutation_p.M220I|PMS1_uc002url.3_Missense_Mutation_p.M527I|PMS1_uc002urm.3_Non-coding_Transcript NM_000534 NP_000525 P54277 PMS1_HUMAN Homo sapiens PMS1 postmeiotic segregation increased 1 (S. cerevisiae) (PMS1), transcript variant 1, mRNA. 904 mismatch repair|reciprocal meiotic recombination MutLalpha complex ATP binding|ATPase activity|mismatched DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751) TCTACAGAATGAAGCACCAGT 0.373000 """Mis, N""" """colorectal, endometrial, ovarian""" Direct reversal of damage;Mismatch excision repair (MMR) 61 7 0 0 1 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103092762 103092762 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr11:103092762C>T uc001phn.1 + 57 9255 c.9111C>T c.(9109-9111)ttC>ttT p.F3037F DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Silent_p.F3037F NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA. 3037 Stalk (By similarity). Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) ATTTTAGTTTCCTTGCAAAAA 0.284000 14 7 0 0 1 0 0 LRP4 4038 broad.mit.edu 37 11 46920197 46920197 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr11:46920197G>A uc001ndn.4 - 6 951 c.708C>T c.(706-708)ttC>ttT p.F236F LRP4_uc009ylh.2_Silent_p.F187F NM_002334 NP_002325 O75096 LRP4_HUMAN Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA. 236 LDL-receptor class A 6. Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) TGTCACACATGAACTCCCCAG 0.582000 145 41 0 0 1 0 0 CENPJ 55835 broad.mit.edu 37 13 25478124 25478124 + Missense_Mutation SNP G C C TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr13:25478124G>C uc001upt.4 - 7 3018 c.2765C>G c.(2764-2766)gCt>gGt p.A922G CENPJ_uc010tdf.2_Non-coding_Transcript|CENPJ_uc010aaf.3_Non-coding_Transcript|CENPJ_uc001upu.3_5'UTR NM_018451 NP_060921 Q9HC77 CENPJ_HUMAN Homo sapiens centromere protein J (CENPJ), mRNA. 922 G2/M transition of mitotic cell cycle|cell division|centriole replication|microtubule nucleation|microtubule polymerization centriole|cytosol|gamma-tubulin small complex|microtubule protein domain specific binding|tubulin binding endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) TGCGTTCTCAGCTTTAAACTT 0.373000 62 68 0 0 1 0 0 SERPINB3 6317 broad.mit.edu 37 18 61323087 61323087 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr18:61323087G>A uc002lji.3 - 7 1121 c.977C>T c.(976-978)tCt>tTt p.S326F SERPINB3_uc002ljg.3_Intron|SERPINB3_uc010dqa.3_Missense_Mutation_p.S274F NM_006919 NP_008850 P29508 SPB3_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA. 326 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 TAGGACTCCAGATAGCACGAG 0.537000 104 30 0 0 1 0 0 ISLR 3671 broad.mit.edu 37 15 74468480 74468480 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr15:74468480C>T uc002axg.1 + 1 1563 c.1281C>T c.(1279-1281)tcC>tcT p.S427S ISLR_uc002axh.1_Silent_p.S427S|ISLR_uc021sqf.1_Silent_p.S427S NM_005545 NP_958934 O14498 ISLR_HUMAN Homo sapiens immunoglobulin superfamily containing leucine-rich repeat (ISLR), transcript variant 1, mRNA. 427 cell adhesion extracellular region central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1) 20 TCCTCACCTCCTTCTAGCCCC 0.642000 44 11 0 0 1 0 0 OR1I1 126370 broad.mit.edu 37 19 15198809 15198809 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr19:15198809C>T uc010xoe.2 + 0 933 c.933C>T c.(931-933)ccC>ccT p.P311P NM_001004713 NP_001004713 O60431 OR1I1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily I, member 1 (OR1I1), mRNA. 311 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2) 20 TGGCCGTCCCCTGTCCTAGGC 0.537000 34 11 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8203090 8203090 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr19:8203090C>T uc002mjf.3 - 8 1153 c.1136G>A c.(1135-1137)cGa>cAa p.R379Q NM_032447 NP_115823 Q75N90 FBN3_HUMAN Homo sapiens fibrillin 3 (FBN3), mRNA. 379 proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 GGGGTTGAGTCGCGCTGGCCC 0.662000 33 4 0 0 1 0 0 NIPA1 123606 broad.mit.edu 37 15 23052681 23052681 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr15:23052681G>A uc001yvc.3 - 3 417 c.392C>T c.(391-393)gCa>gTa p.A131V NIPA1_uc001yvd.3_5'UTR|NIPA1_uc001yve.3_Missense_Mutation_p.A56V NM_144599 NP_001135747 Q7RTP0 NIPA1_HUMAN Homo sapiens non imprinted in Prader-Willi/Angelman syndrome 1 (NIPA1), transcript variant 1, mRNA. 131 cell death early endosome|integral to membrane|plasma membrane endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1) 15 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165) GACGGAGCCTGCACAGCTTAG 0.458000 128 11 0 0 1 0 0 ZC3H7A 29066 broad.mit.edu 37 16 11870214 11870214 + Splice_Site SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr16:11870214G>A uc002dbk.3 - 6 745 c.547_splice c.e6-1 p.L183_splice ZC3H7A_uc002dbl.3_Splice_Site_p.L183_splice|ZC3H7A_uc002dbm.2_Splice_Site_p.L183_splice NM_014153 NP_054872 Q8IWR0 Z3H7A_HUMAN Homo sapiens zinc finger CCCH-type containing 7A (ZC3H7A), mRNA. 183 nucleus nucleic acid binding|zinc ion binding breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2) 25 TTTAATGAGAGCTGAAATAAA 0.338000 90 17 0 0 1 0 0 GDF5OS 554250 broad.mit.edu 37 20 34021681 34021681 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr20:34021681C>T uc002xcj.3 + 1 167 c.92C>T c.(91-93)aCc>aTc p.T31I GDF5_uc010gfc.1_Intron|GDF5_uc002xck.1_3'UTR Homo sapiens growth differentiation factor 5 opposite strand, mRNA (cDNA clone MGC:99835 IMAGE:6650156), complete cds. cervix(1)|endometrium(4)|lung(4) 9 GGATGTGCCACCCAGGAAGAC 0.557000 67 15 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155200072 155200072 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr3:155200072G>A uc021xge.1 - 22 4044 c.3767C>T c.(3766-3768)cCg>cTg p.P1256L PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.P1218L NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA. 1256 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity p.P1218L(1)|p.P1256L(1) NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TATCAGCTCCGGAGATGAGCA 0.473000 84 21 0 0 1 0 0 UBE4A 9354 broad.mit.edu 37 11 118245671 118245671 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr11:118245671C>T uc001psw.3 + 8 1312 c.1177C>T c.(1177-1179)Cca>Tca p.P393S UBE4A_uc001psv.3_Missense_Mutation_p.P400S NM_001204077 NP_001191006 Q14139 UBE4A_HUMAN Homo sapiens ubiquitination factor E4A (UBE4A), transcript variant 2, mRNA. 393 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 56 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) CCAGCTCTCTCCAGAAACCAA 0.443000 50 13 0 0 1 0 0 WASF3 10810 broad.mit.edu 37 13 27216397 27216397 + Splice_Site SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr13:27216397G>A uc001uqv.3 + 3 216 c.-9_splice c.e3-1 WASF3_uc001uqw.3_Splice_Site NM_006646 NP_006637 Q9UPY6 WASF3_HUMAN Homo sapiens WAS protein family, member 3 (WASF3), mRNA. actin filament polymerization cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2) 22 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) TCAATTTTCAGATTGTGAACC 0.388000 53 32 0 0 1 0 0 PSG11 5680 broad.mit.edu 37 19 43523192 43523192 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr19:43523192G>A uc002ovm.1 - 2 546 c.439C>T c.(439-441)Ccc>Tcc p.P147S PSG4_uc010xwk.1_Intron|PSG11_uc002ovp.1_Missense_Mutation_p.P25S|PSG11_uc002ovo.1_Missense_Mutation_p.P25S NM_002785 NP_002776 Q9UQ72 PSG11_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 11 (PSG11), transcript variant 1, mRNA. 147 Ig-like C2-type 1. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 26 Prostate(69;0.00682) GAGGGCTTGGGAGTCTCCACT 0.507000 85 87 0 0 1 0 0 ELANE 1991 broad.mit.edu 37 19 855687 855687 + Missense_Mutation SNP G A A rs112990855 TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr19:855687G>A uc002lqb.3 + 3 528 c.490G>A c.(490-492)Ggg>Agg p.G164R NM_001972 NP_001963 P08246 ELNE_HUMAN Homo sapiens elastase, neutrophil expressed (ELANE), mRNA. 164 Peptidase S1. cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of interleukin-8 biosynthetic process|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV cell surface|extracellular region|stored secretory granule bacterial cell surface binding|cytokine binding|heparin binding p.G164G(1) breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1) 13 Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019) CAGGAACCGTGGGATCGCCAG 0.711000 104 42 0 0 1 0 0 CDH8 1006 broad.mit.edu 37 16 61823256 61823256 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr16:61823256C>T uc002eog.2 - 7 2363 c.1408G>A c.(1408-1410)Gaa>Aaa p.E470K CDH8_uc002eoh.3_Missense_Mutation_p.E239K NM_001796 NP_001787 P55286 CADH8_HUMAN Homo sapiens cadherin 8, type 2 (CDH8), mRNA. 470 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) TTACTAATTTCAGTAGCAATG 0.393000 42 25 0 0 1 0 0 DUOX1 53905 broad.mit.edu 37 15 45454089 45454090 + Missense_Mutation DNP GG AA AA TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr15:45454089_45454090GG>AA uc001zus.1 + 30 4356_4357 c.4010_4011GG>AA c.(4009-4011)cgg>cAA p.R1337Q DUOX1_uc001zut.1_Missense_Mutation_p.R1337Q|DUOX1_uc010bee.1_Missense_Mutation_p.R717Q NM_017434 NP_787954 Q9NRD9 DUOX1_HUMAN Homo sapiens dual oxidase 1 (DUOX1), transcript variant 1, mRNA. 1337 FAD-binding FR-type. cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane NAD(P)H oxidase activity|NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1) 57 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) CTGCACATCCGGGCAGCAGGGC 0.634000 42 6 0 0 1 0 0 ZNF626 199777 broad.mit.edu 37 19 20807376 20807376 + Missense_Mutation SNP T C C TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr19:20807376T>C uc002npb.1 - 3 1457 c.1307A>G c.(1306-1308)cAg>cGg p.Q436R ZNF626_uc002npc.1_Missense_Mutation_p.Q360R NM_001076675 NP_001070143 Q68DY1 ZN626_HUMAN Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA. 436 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|lung(3)|skin(1) 6 GATTGAGGACTGGTTGAAGGC 0.388000 38 8 0 0 1 0 0 MARC2 54996 broad.mit.edu 37 1 220955194 220955194 + Missense_Mutation SNP A G G TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:220955194A>G uc001hmq.3 + 6 1157 c.959A>G c.(958-960)gAa>gGa p.E320G MARC2_uc001hmr.3_Missense_Mutation_p.E320G|MARC2_uc009xdx.3_Intron NM_017898 NP_060368 Q969Z3 MOSC2_HUMAN Homo sapiens mitochondrial amidoxime reducing component 2 (MARC2), nuclear gene encoding mitochondrial protein, mRNA. 320 MOSC. mitochondrial outer membrane|peroxisome molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding TATTCAGTGGAAAAAATTGGA 0.433000 171 4 0 0 1 0 0 MUC13 56667 broad.mit.edu 37 3 124646490 124646490 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr3:124646490G>A uc003ehq.2 - 1 439 c.400C>T c.(400-402)Cct>Tct p.P134S NM_033049 NP_149038 Q9H3R2 MUC13_HUMAN Homo sapiens mucin 13, cell surface associated (MUC13), mRNA. 134 Thr-rich. extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1) 18 GTTTCAGAAGGAACCATTGTG 0.443000 251 18 0 0 1 0 0 HERC2P3 283755 broad.mit.edu 37 15 20651276 20651277 + Missense_Mutation DNP CC TT TT TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr15:20651276_20651277CC>TT uc001ytg.3 - 16 2380_2381 c.1671_1672GG>AA c.(1669-1674)gaggaa>gaAAaa p.E558K HERC2P3_uc010tyx.1_Non-coding_Transcript|HERC2P3_uc001yth.4_Missense_Mutation_p.E558K|HERC2P3_uc010tyy.2_Missense_Mutation_p.E558K Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA. central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 TTCATATCTTCCTCAACGCTGT 0.475000 139 4 0 0 1 0 0 PLA2G4D 283748 broad.mit.edu 37 15 42375496 42375496 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr15:42375496C>T uc001zox.3 - 7 667 c.572G>A c.(571-573)gGg>gAg p.G191E NM_178034 NP_828848 Q86XP0 PA24D_HUMAN Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA. 191 phospholipid catabolic process cytoplasmic vesicle membrane|cytosol metal ion binding|phospholipase A2 activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245) OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06) CTCATAGGACCCCTTCAGCAC 0.607000 37 12 0 0 1 0 0 TSPO2 222642 broad.mit.edu 37 6 41011331 41011331 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr6:41011331G>A uc003opj.3 + 2 510 c.209G>A c.(208-210)gGg>gAg p.G70E UNC5CL_uc010jxe.1_Intron|TSPO2_uc003opk.3_Intron|TSPO2_uc011dub.2_Missense_Mutation_p.G70E NM_001010873 NP_001153198 Q5TGU0 TSPO2_HUMAN Homo sapiens translocator protein 2 (TSPO2), transcript variant 1, mRNA. 70 transport endoplasmic reticulum membrane|integral to membrane cholesterol binding|receptor activity breast(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 GACCTGGGAGGGGGCTTGGGG 0.577000 104 19 0 0 1 0 0 FERMT3 83706 broad.mit.edu 37 11 63987250 63987250 + Silent SNP C G G TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr11:63987250C>G uc001nyl.2 + 8 1217 c.1068C>G c.(1066-1068)ctC>ctG p.L356L FERMT3_uc001nym.2_Silent_p.L356L NM_178443 NP_848537 Q86UX7 URP2_HUMAN Homo sapiens fermitin family member 3 (FERMT3), transcript variant URP2LF, mRNA. 356 FERM.|PH. integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin cell junction|cell projection|podosome integrin binding breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 18 AGGACCATCTCCGAATCTTTC 0.622000 76 48 0 0 1 0 0 DNER 92737 broad.mit.edu 37 2 230456371 230456371 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr2:230456371C>T uc002vpv.3 - 1 657 c.510G>A c.(508-510)caG>caA p.Q170Q NM_139072 NP_620711 Q8NFT8 DNER_HUMAN Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA. 170 Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 63 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) TCACCGTTGCCTGAGAGCGAG 0.537000 34 27 0 0 1 0 0 TOR1AIP1 26092 broad.mit.edu 37 1 179887286 179887286 + Missense_Mutation SNP A T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:179887286A>T uc001gnq.3 + 9 1882 c.1664A>T c.(1663-1665)gAc>gTc p.D555V NM_015602 NP_056417 Q5JTV8 TOIP1_HUMAN Homo sapiens torsin A interacting protein 1 (TOR1AIP1), mRNA. 555 integral to membrane|nuclear inner membrane breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1) 18 ATGGACCCAGACAAACTGAAT 0.423000 93 13 0 0 1 0 0 RBPJL 11317 broad.mit.edu 37 20 43936803 43936803 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr20:43936803C>T uc002xns.3 + 1 115 c.43C>T c.(43-45)Cct>Tct p.P15S MATN4_uc002xnp.2_Intron|MATN4_uc002xnn.2_Intron|MATN4_uc002xno.2_Intron|MATN4_uc010zwr.1_5'Flank|MATN4_uc002xnr.1_Intron|RBPJL_uc002xnt.3_Missense_Mutation_p.P15S NM_014276 NP_055091 Q9UBG7 RBPJL_HUMAN Homo sapiens recombination signal binding protein for immunoglobulin kappa J region-like (RBPJL), mRNA. 15 signal transduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Myeloproliferative disorder(115;0.0122) GCCTCCCAATCCTTTGACTCA 0.602000 82 28 0 0 1 0 0 TMEM67 91147 broad.mit.edu 37 8 94827549 94827549 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr8:94827549C>T uc011lgk.2 + 26 2852 c.2781C>T c.(2779-2781)ttC>ttT p.F927F TMEM67_uc003yga.4_Silent_p.F846F|TMEM67_uc011lgl.2_Silent_p.F326F NM_153704 NP_714915 Q5HYA8 MKS3_HUMAN Homo sapiens transmembrane protein 67 (TMEM67), transcript variant 1, mRNA. 927 ER-associated protein catabolic process|cilium assembly|negative regulation of centrosome duplication centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body unfolded protein binding breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1) 41 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.00896) GTTATTCTTTCAGCAGTGTCC 0.294000 3 3 0 0 1 0 0 EPHB1 2047 broad.mit.edu 37 3 134670822 134670822 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr3:134670822G>A uc003eqt.3 + 2 1108 c.733G>A c.(733-735)Gaa>Aaa p.E245K EPHB1_uc010htz.2_Non-coding_Transcript|EPHB1_uc011bly.2_Intron NM_004441 NP_004432 P54762 EPHB1_HUMAN Homo sapiens EPH receptor B1 (EPHB1), mRNA. 245 Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 CGGGGATGGGGAATGGATGGT 0.582000 189 39 0 0 1 0 0 ZCCHC4 29063 broad.mit.edu 37 4 25316963 25316963 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr4:25316963C>T uc003grl.4 + 2 306 c.270C>T c.(268-270)gcC>gcT p.A90A NM_024936 NP_079212 Q9H5U6 ZCHC4_HUMAN Homo sapiens zinc finger, CCHC domain containing 4 (ZCCHC4), mRNA. 90 methyltransferase activity|nucleic acid binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1) 9 Breast(46;0.0503) GACTTGCTGCCCGAGAAGCTC 0.438000 88 43 0 0 1 0 0 ATMIN 23300 broad.mit.edu 37 16 81077755 81077755 + Missense_Mutation SNP A G G TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr16:81077755A>G uc002ffz.1 + 3 1670 c.1652A>G c.(1651-1653)gAg>gGg p.E551G ATMIN_uc002fga.2_Missense_Mutation_p.E393G|ATMIN_uc010vnn.1_Missense_Mutation_p.E322G|ATMIN_uc002fgb.1_Missense_Mutation_p.E393G NM_015251 NP_056066 O43313 ATMIN_HUMAN Homo sapiens ATM interactor (ATMIN), mRNA. 551 response to DNA damage stimulus nucleus zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 20 CCTCAGAATGAGCCTAAGACT 0.338000 27 7 0 0 1 0 0 SIRPB2 284759 broad.mit.edu 37 20 1460494 1460494 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr20:1460494C>T uc002wfg.2 - 1 530 c.302G>A c.(301-303)cGg>cAg p.R101Q SIRPB2_uc002wfh.3_Intron|SIRPB2_uc010zpr.1_Intron NM_001122962 NP_001116434 Q5JXA9 SIRB2_HUMAN Homo sapiens signal-regulatory protein beta 2 (SIRPB2), transcript variant 1, mRNA. 101 Ig-like V-type 1. integral to membrane endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 TTCTGATGTCCGTTGGATCAT 0.448000 72 18 0 0 1 0 0 CD163 9332 broad.mit.edu 37 12 7635291 7635291 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr12:7635291G>A uc001qsz.3 - 13 3323 c.3195C>T c.(3193-3195)ttC>ttT p.F1065F CD163_uc001qta.3_Silent_p.F1065F|CD163_uc009zfw.2_Silent_p.F1098F NM_004244 NP_004235 Q86VB7 C163A_HUMAN Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA. 1065 acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 ATAATGCGACGAAAATGGCCA 0.423000 84 44 0 0 1 0 0 THSD4 79875 broad.mit.edu 37 15 72030342 72030342 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr15:72030342G>A uc002atb.1 + 9 1981 c.1902G>A c.(1900-1902)ggG>ggA p.G634G THSD4_uc010ukg.1_Silent_p.G274G|THSD4_uc002ate.2_Silent_p.G274G NM_024817 NP_079093 Q6ZMP0 THSD4_HUMAN Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA. 634 proteinaceous extracellular matrix metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 CGACCTGTGGGAAAGGTGAGC 0.627000 30 5 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215932006 215932006 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:215932006C>T uc001hku.1 - 57 11707 c.11320G>A c.(11320-11322)Gaa>Aaa p.E3774K NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 3774 Fibronectin type-III 23. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GGATAGATTTCTTCTGGTGTT 0.343000 HNSCC(13;0.011) 77 8 0 0 1 0 0 SPDYE1 285955 broad.mit.edu 37 7 44044749 44044749 + Silent SNP T G G TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr7:44044749T>G uc003tjf.3 + 3 691 c.555T>G c.(553-555)ctT>ctG p.L185L POLR2J4_uc003tjc.2_Intron|POLR2J4_uc003tjd.3_Intron|POLR2J4_uc010kxw.2_Intron|POLR2J4_uc003tje.4_Intron|AX747182_uc003tjg.1_Non-coding_Transcript NM_175064 NP_778234 Q8NFV5 SPDE1_HUMAN Homo sapiens speedy homolog E1 (Xenopus laevis) (SPDYE1), mRNA. 185 endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1) 11 AGTATCTCCTTGCTATGGTCA 0.537000 319 5 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117698398 117698398 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr12:117698398C>T uc001twn.2 - 13 2950 c.2239G>A c.(2239-2241)Gcc>Acc p.A747T NOS1_uc021ren.1_Missense_Mutation_p.A411T|NOS1_uc021reo.1_Missense_Mutation_p.A411T|NOS1_uc001twm.2_Missense_Mutation_p.A747T NM_001204218 NP_001191147 P29475 NOS1_HUMAN Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA. 747 Calmodulin-binding (Potential). multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) ATCAGCTTGGCCGAGAACTTG 0.517000 41 20 0 0 1 0 0 PTPN5 84867 broad.mit.edu 37 11 18755128 18755128 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr11:18755128G>A uc001mpd.3 - 9 1486 c.1055C>T c.(1054-1056)tCc>tTc p.S352F PTPN5_uc001mpb.3_Missense_Mutation_p.S320F|PTPN5_uc001mpc.3_Missense_Mutation_p.S352F|PTPN5_uc010rdj.2_Missense_Mutation_p.S296F|PTPN5_uc001mpf.3_Missense_Mutation_p.S328F|PTPN5_uc001mpe.3_Missense_Mutation_p.S320F|PTPN5_uc010rdk.2_Missense_Mutation_p.S297F NM_006906 NP_116170 P54829 PTN5_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) (PTPN5), transcript variant 1, mRNA. 352 Tyrosine-protein phosphatase. integral to membrane phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4) 27 ATTGATGTAGGAACTCAGAGG 0.582000 75 26 0 0 1 0 0 LUZP2 338645 broad.mit.edu 37 11 25071647 25071647 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr11:25071647C>T uc001mqs.3 + 9 1103 c.829C>T c.(829-831)Cca>Tca p.P277S LUZP2_uc009yif.3_Missense_Mutation_p.P191S|LUZP2_uc009yig.3_Missense_Mutation_p.P235S NM_001009909 NP_001009909 Q86TE4 LUZP2_HUMAN Homo sapiens leucine zipper protein 2 (LUZP2), transcript variant 1, mRNA. 277 extracellular region central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 32 GGAAGGAAATCCAAGTACCAC 0.368000 25 11 0 0 1 0 0 GTF3C5 9328 broad.mit.edu 37 9 135926235 135926235 + Missense_Mutation SNP C G G TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr9:135926235C>G uc004ccj.4 + 3 975 c.638C>G c.(637-639)cCc>cGc p.P213R GTF3C5_uc010mzz.2_Missense_Mutation_p.P88R|GTF3C5_uc004cci.4_Missense_Mutation_p.P213R NM_001122823 NP_001116295 Q9Y5Q8 TF3C5_HUMAN Homo sapiens general transcription factor IIIC, polypeptide 5, 63kDa (GTF3C5), transcript variant 1, mRNA. 213 transcription factor TFIIIC complex DNA binding|protein binding p.R212H(1) endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1) 21 OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05) GCCCGGCGCCCCCACAATGCC 0.592000 90 13 0 0 1 0 0 LPO 4025 broad.mit.edu 37 17 56320340 56320340 + Splice_Site SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr17:56320340G>A uc002ivt.3 + 2 315 c.-1_splice c.e2-1 LPO_uc010dco.2_Splice_Site|LPO_uc010wnr.1_Splice_Site|LPO_uc010wns.2_Splice_Site|LPO_uc010dcp.3_Splice_Site NM_006151 NP_006142 P22079 PERL_HUMAN Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 TCGTTTCAGTGATGAGGGTCC 0.532000 137 9 0 0 1 0 0 STRN4 29888 broad.mit.edu 37 19 47241454 47241455 + Nonsense_Mutation DNP GG AA AA TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr19:47241454_47241455GG>AA uc002pfm.3 - 2 459_460 c.426_427CC>TT c.(424-429)aaccag>aaTTag p.Q143* STRN4_uc002pfl.3_Nonsense_Mutation_p.Q143*|STRN4_uc010xyf.2_Non-coding_Transcript|STRN4_uc010xyg.1_Non-coding_Transcript NM_001039877 NP_001034966 Q9NRL3 STRN4_HUMAN Homo sapiens striatin, calmodulin binding protein 4 (STRN4), transcript variant 2, mRNA. 143 cytoplasm|membrane armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035) TTCTCCCCCTGGTTCAGGTCTG 0.490000 90 36 0 0 1 0 0 ZBTB32 27033 broad.mit.edu 37 19 36207628 36207628 + Missense_Mutation SNP T G G TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr19:36207628T>G uc002oay.3 + 5 1648 c.1438T>G c.(1438-1440)Tgt>Ggt p.C480G ZBTB32_uc002oaz.3_Non-coding_Transcript|MLL2_uc021usu.1_5'Flank|MLL2_uc021usv.1_5'Flank NM_014383 NP_055198 Q9Y2Y4 ZBT32_HUMAN Homo sapiens zinc finger and BTB domain containing 32 (ZBTB32), mRNA. 480 DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleoplasm DNA binding|protein binding|transcription corepressor activity|zinc ion binding large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 14 all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GACCTCTCCCTGTTGTCCTTC 0.627000 OREG0025433 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 114 28 0 0 1 0 0 TSHZ1 10194 broad.mit.edu 37 18 72998544 72998544 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr18:72998544C>T uc002lly.3 + 1 1610 c.1047C>T c.(1045-1047)aaC>aaT p.N349N TSHZ1_uc021uln.1_Silent_p.N349N NM_005786 NP_005777 Q6ZSZ6 TSH1_HUMAN Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA. 394 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2) 42 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) CGCCCAATAACCGCTATGGCT 0.622000 39 21 0 0 1 0 0 CILP 8483 broad.mit.edu 37 15 65495735 65495735 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr15:65495735C>T uc002aon.2 - 6 1174 c.993G>A c.(991-993)aaG>aaA p.K331K NM_003613 NP_003604 O75339 CILP1_HUMAN Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA. 331 Ig-like C2-type. negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 TCCCTGTGGCCTTACAGCACA 0.507000 73 8 0 0 1 0 0 CACNA1I 8911 broad.mit.edu 37 22 40073418 40073418 + Missense_Mutation SNP A C C TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr22:40073418A>C uc003ayc.3 + 29 4927 c.4927A>C c.(4927-4929)Aag>Cag p.K1643Q CACNA1I_uc003ayd.3_Missense_Mutation_p.K1608Q|CACNA1I_uc003aye.3_Missense_Mutation_p.K1558Q|CACNA1I_uc003ayf.3_Missense_Mutation_p.K1523Q NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA. 1643 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) GCTCTTTGGGAAGCTGGGTGA 0.672000 17 4 0 0 1 0 0 BFSP2 8419 broad.mit.edu 37 3 133119318 133119318 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr3:133119318G>A uc003epn.1 + 0 529 c.391G>A c.(391-393)Gag>Aag p.E131K NM_003571 NP_003562 Q13515 BFSP2_HUMAN Homo sapiens beaded filament structural protein 2, phakinin (BFSP2), mRNA. 131 Rod. response to stimulus|visual perception cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1) 13 AGTCAGTCAGGAGCTGGAAAC 0.607000 81 6 0 0 1 0 0 INSRR 3645 broad.mit.edu 37 1 156812956 156812956 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:156812956G>A uc010pht.2 - 16 3265 c.2966C>T c.(2965-2967)tCt>tTt p.S989F NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron NM_014215 NP_055030 P14616 INSRR_HUMAN Homo sapiens insulin receptor-related receptor (INSRR), mRNA. 989 Protein kinase. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CATCCCAAAAGAGCCCTGGCC 0.602000 44 14 0 0 1 0 0 HTR3C 170572 broad.mit.edu 37 3 183777966 183777966 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr3:183777966G>A uc003fmk.3 + 8 1204 c.1170G>A c.(1168-1170)ggG>ggA p.G390G NM_130770 NP_570126 Q8WXA8 5HT3C_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member C (HTR3C), mRNA. 390 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2) 32 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) AGTTAGCAGGGAAGAAGCTGG 0.607000 37 15 0 0 1 0 0 IFIT5 24138 broad.mit.edu 37 10 91177851 91177851 + Nonsense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr10:91177851C>T uc010qnh.2 + 1 1126 c.895C>T c.(895-897)Caa>Taa p.Q299* IFIT5_uc010qng.1_Nonsense_Mutation_p.Q251* NM_012420 NP_036552 Q13325 IFIT5_HUMAN Homo sapiens interferon-induced protein with tetratricopeptide repeats 5 (IFIT5), mRNA. 299 binding endometrium(1)|large_intestine(4)|lung(4) 9 ACAAATGATCCAAATCAAGAA 0.418000 79 50 0 0 1 0 0 IVD 3712 broad.mit.edu 37 15 40708539 40708539 + Silent SNP C A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr15:40708539C>A uc001zls.3 + 10 1459 c.1125C>A c.(1123-1125)gcC>gcA p.A375A IVD_uc001zlq.2_Silent_p.A345A|IVD_uc001zlr.2_Silent_p.A78A NM_002225 NP_002216 P26440 IVD_HUMAN Homo sapiens isovaleryl-CoA dehydrogenase (IVD), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 372 leucine catabolic process mitochondrial matrix flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity kidney(1)|lung(5)|ovary(2)|prostate(1) 9 all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-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;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808) CACAGGTAGCCCTGGACGGCA 0.607000 56 5 1.6384e-10 1.6958e-10 1 1 0 ATP7B 540 broad.mit.edu 37 13 52542710 52542710 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr13:52542710C>T uc001vfw.2 - 3 1734 c.1577G>A c.(1576-1578)gGa>gAa p.G526E ATP7B_uc001vfy.2_Missense_Mutation_p.G415E|ATP7B_uc010adv.2_Intron|ATP7B_uc001vfx.2_Missense_Mutation_p.G526E|ATP7B_uc010tgt.1_Missense_Mutation_p.G526E|ATP7B_uc010tgu.1_Missense_Mutation_p.G526E|ATP7B_uc010tgv.1_Missense_Mutation_p.G526E|ATP7B_uc010tgw.1_Intron NM_000053 NP_000044 P35670 ATP7B_HUMAN Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA. 526 HMA 5. ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) CTCTGCCTTTCCTGCCATCAA 0.537000 Wilson disease 30 21 0 0 1 0 0 LMX1A 4009 broad.mit.edu 37 1 165173226 165173226 + Missense_Mutation SNP T A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:165173226T>A uc001gcz.2 - 8 1234 c.1040A>T c.(1039-1041)aAc>aTc p.N347I LMX1A_uc021pdz.1_Missense_Mutation_p.N347I|LMX1A_uc021pdy.1_Missense_Mutation_p.N98I|LMX1A_uc001gcw.2_Missense_Mutation_p.N65I NM_001174069 NP_796372 Q8TE12 LMX1A_HUMAN Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA. 347 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) ATCACCCAGGTTACTGAGGGA 0.512000 109 25 0 0 1 0 0 PCDHB8 56128 broad.mit.edu 37 5 140558223 140558223 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr5:140558223G>A uc011dai.2 + 0 853 c.608G>A c.(607-609)cGa>cAa p.R203Q PCDHB16_uc003liv.3_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN Homo sapiens protocadherin beta 8 (PCDHB8), mRNA. 203 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.D202Y(2) NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCGCTGGACCGAGAGGAAGAA 0.532000 75 4 0 0 1 0 0 CYP2A13 1553 broad.mit.edu 37 19 41601665 41601665 + Splice_Site SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr19:41601665G>A uc002opt.3 + 9 1313 c.1304_splice c.e9-1 p.G435_splice NM_000766 NP_000757 Q16696 CP2AD_HUMAN Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA. 435 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) TCCTCCTCAGGAAAGCGGTAC 0.577000 93 12 0 0 1 0 0 CORO1C 23603 broad.mit.edu 37 12 109046152 109046152 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr12:109046152G>A uc009zva.3 - 7 1105 c.1056C>T c.(1054-1056)tcC>tcT p.S352S CORO1C_uc001tnj.3_Silent_p.S299S|CORO1C_uc010sxf.2_Silent_p.S262S NM_014325 NP_055140 Q9ULV4 COR1C_HUMAN Homo sapiens coronin, actin binding protein, 1C (CORO1C), transcript variant 1, mRNA. 299 actin cytoskeleton organization|phagocytosis|signal transduction actin cytoskeleton actin filament binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4) 24 GGACGTACGGGGATTCATCCG 0.458000 63 37 0 0 1 0 0 GPRIN2 9721 broad.mit.edu 37 10 46999128 46999128 + Missense_Mutation SNP G A A rs149580948 TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr10:46999128G>A uc001jec.3 + 2 383 c.248G>A c.(247-249)cGa>cAa p.R83Q GPRIN2_uc021ppt.1_Missense_Mutation_p.R83Q NM_014696 NP_055511 O60269 GRIN2_HUMAN Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA. 83 p.R83P(2) breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 18 CCCAAGGCGCGACCCAGTGCT 0.697000 111 13 0 0 1 0 0 OR9K2 441639 broad.mit.edu 37 12 55524417 55524417 + Nonsense_Mutation SNP A T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr12:55524417A>T uc010spe.2 + 0 865 c.865A>T c.(865-867)Aga>Tga p.R289* NM_001005243 NP_001005243 Q8NGE7 OR9K2_HUMAN Homo sapiens olfactory receptor, family 9, subfamily K, member 2 (OR9K2), mRNA. 289 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2) 31 CACTCCTGACAGATTTCCTGA 0.453000 133 22 0 0 1 0 0 GNAT3 346562 broad.mit.edu 37 7 80088100 80088100 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr7:80088100C>T uc011kgu.2 - 7 952 c.952G>A c.(952-954)Gaa>Aaa p.E318K CD36_uc003uhc.3_Intron NM_001102386 NP_001095856 A8MTJ3 GNAT3_HUMAN Homo sapiens guanine nucleotide binding protein, alpha transducing 3 (GNAT3), mRNA. 318 G-protein signaling, coupled to cAMP nucleotide second messenger|detection of chemical stimulus involved in sensory perception of bitter taste|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity endometrium(1)|large_intestine(2)|lung(5)|ovary(1) 9 GAATAAATTTCCTTATCTTCT 0.333000 15 3 0 0 1 0 0 RNFT2 84900 broad.mit.edu 37 12 117217066 117217066 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr12:117217066C>T uc009zwn.3 + 6 1028 c.795C>T c.(793-795)atC>atT p.I265I RNFT2_uc001twb.4_Silent_p.I265I|RNFT2_uc001twa.4_Silent_p.I175I|RNFT2_uc001twc.4_Silent_p.I13I NM_001109903 NP_001103373 Q96EX2 RNFT2_HUMAN Homo sapiens ring finger protein, transmembrane 2 (RNFT2), transcript variant 1, mRNA. 265 integral to membrane zinc ion binding endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1) 6 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.034) TTGTGGGGATCGCAGACTTTG 0.542000 131 65 0 0 1 0 0 C1orf106 55765 broad.mit.edu 37 1 200880953 200880953 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:200880953C>T uc001gvo.3 + 8 1629 c.1587C>T c.(1585-1587)ccC>ccT p.P529P C1orf106_uc010ppm.2_Silent_p.P444P NM_018265 NP_001136041 Q3KP66 CA106_HUMAN Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA. 529 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 CTGAGAGCCCCCTGCCGCCTG 0.726000 32 4 0 0 1 0 0 APOL2 23780 broad.mit.edu 37 22 36623971 36623971 + Missense_Mutation SNP T C C TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr22:36623971T>C uc011amm.2 - 5 872 c.829A>G c.(829-831)Acc>Gcc p.T277A APOL2_uc003aoz.3_Missense_Mutation_p.T165A|APOL2_uc003apa.3_Missense_Mutation_p.T165A NM_145637 NP_663612 Q9BQE5 APOL2_HUMAN Homo sapiens apolipoprotein L, 2 (APOL2), transcript variant beta, mRNA. 165 acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development endoplasmic reticulum membrane|extracellular region high-density lipoprotein particle binding|lipid binding|receptor binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2) 9 ACACTGCAGGTAATCCCAGCC 0.552000 58 14 0 0 1 0 0 EARS2 124454 broad.mit.edu 37 16 23546250 23546250 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr16:23546250G>A uc002dlu.3 - 3 949 c.917C>T c.(916-918)tCc>tTc p.S306F EARS2_uc002dlr.4_Non-coding_Transcript|EARS2_uc002dls.4_Non-coding_Transcript|EARS2_uc002dlt.4_Missense_Mutation_p.S306F NM_001083614 NP_001077083 Q5JPH6 SYEM_HUMAN Homo sapiens glutamyl-tRNA synthetase 2, mitochondrial (putative) (EARS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 306 glutamyl-tRNA aminoacylation mitochondrial matrix ATP binding|RNA binding|glutamate-tRNA ligase activity central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 GBM - Glioblastoma multiforme(48;0.0353) L-Glutamic Acid(DB00142) GTCCAACAAGGAATCGGGCAG 0.577000 15 7 0 0 1 0 0 KRT76 51350 broad.mit.edu 37 12 53164932 53164932 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr12:53164932G>A uc001sax.3 - 6 1389 c.1335C>T c.(1333-1335)gcC>gcT p.A445A NM_015848 NP_056932 Q01546 K22O_HUMAN Homo sapiens keratin 76 (KRT76), mRNA. 445 Coil 2.|Rod. cytoskeleton organization keratin filament structural molecule activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CTTGGAGCTTGGCATTGGCGT 0.552000 80 20 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54308062 54308062 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr15:54308062G>A uc021smr.1 + 0 2962 c.2962G>A c.(2962-2964)Gaa>Aaa p.E988K UNC13C_uc021sms.1_Missense_Mutation_p.E988K NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA. 988 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GGCAGAGTTGGAAGAGAAGAT 0.408000 5 5 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140209973 140209973 + Missense_Mutation SNP A G G rs138889909 byFrequency TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr5:140209973A>G uc003lho.2 + 0 2324 c.2297A>G c.(2296-2298)aAg>aGg p.K766R PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dab.2_Missense_Mutation_p.K766R NM_018909 NP_061732 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA. 751 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCCCACCCAAGATGGATCTC 0.572000 43 9 0 0 1 0 0 PION 54103 broad.mit.edu 37 7 76984935 76984935 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr7:76984935G>A uc003ugf.3 - 14 1136 c.1057C>T c.(1057-1059)Cat>Tat p.H353Y PION_uc003ugg.1_Missense_Mutation_p.H138Y NM_017439 NP_059135 A4D1B5 GSAP_HUMAN Homo sapiens pigeon homolog (Drosophila) (PION), mRNA. 353 beta-amyloid formation|regulation of proteolysis trans-Golgi network beta-amyloid binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 TGGAAGAAATGACCAGGTAAG 0.403000 47 30 0 0 1 0 0 IKZF4 64375 broad.mit.edu 37 12 56428793 56428794 + Missense_Mutation DNP CC TT TT TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr12:56428793_56428794CC>TT uc001sjb.1 + 8 1595_1596 c.1436_1437CC>TT c.(1435-1437)ccc>cTT p.P479L IKZF4_uc010sqa.1_Missense_Mutation_p.P432L|IKZF4_uc001sjc.1_Missense_Mutation_p.P479L|IKZF4_uc001sjd.1_Missense_Mutation_p.P377L|IKZF4_uc009zoi.1_Missense_Mutation_p.P434L|IKZF4_uc001sje.1_Missense_Mutation_p.P438L NM_022465 NP_071910 Q9H2S9 IKZF4_HUMAN Homo sapiens IKAROS family zinc finger 4 (Eos) (IKZF4), mRNA. 479 negative regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1) 8 UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123) GGTCCCCCACCCCAGCCACCTC 0.658000 19 26 0 0 1 0 0 KIAA0368 23392 broad.mit.edu 37 9 114176709 114176709 + Splice_Site SNP C G G TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr9:114176709C>G uc004bfe.1 - 20 2521 c.2521_splice c.e20+1 p.G841_splice 5S_rRNA_uc022blx.1_5'Flank|KIAA0368_uc010muc.1_Splice_Site_p.G663_splice NM_001080398 NP_001073867 Homo sapiens KIAA0368 (KIAA0368), mRNA. NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 ATATTCCTACCTCCAACACCT 0.413000 45 12 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29599955 29599955 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr13:29599955G>A uc001usl.4 + 0 1208 c.1150G>A c.(1150-1152)Gga>Aga p.G384R NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA. 374 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 CCTTGGGGTGGGAAGAGGCAA 0.592000 21 15 0 0 1 0 0 C9orf172 389813 broad.mit.edu 37 9 139740806 139740806 + Missense_Mutation SNP A T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr9:139740806A>T uc011meh.2 + 0 1940 c.1940A>T c.(1939-1941)gAg>gTg p.E647V PHPT1_uc011mei.2_5'Flank|PHPT1_uc004cjq.4_5'Flank NM_001080482 NP_001073951 C9J069 CI172_HUMAN Homo sapiens chromosome 9 open reading frame 172 (C9orf172), mRNA. 647 endometrium(2)|large_intestine(1)|lung(6) 9 gccccgggAGAGGCGGCCGAC 0.791000 14 4 0 0 1 0 0 TBC1D19 55296 broad.mit.edu 37 4 26756568 26756568 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr4:26756568G>A uc003gsf.4 + 20 1850 c.1580G>A c.(1579-1581)tGa>tAa p.*527* TBC1D19_uc011bxu.2_Silent_p.*462* NM_018317 NP_060787 Q8N5T2 TBC19_HUMAN Homo sapiens TBC1 domain family, member 19 (TBC1D19), mRNA. 0 intracellular Rab GTPase activator activity breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 17 Breast(46;0.0503) ACTGTCACCTGATCTTCTTCA 0.323000 53 8 0 0 1 0 0 ATP5C1 509 broad.mit.edu 37 10 7842043 7842043 + Missense_Mutation SNP T G G TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr10:7842043T>G uc001iju.3 + 5 704 c.626T>G c.(625-627)gTt>gGt p.V209G ATP5C1_uc009xiq.1_Missense_Mutation_p.V209G|ATP5C1_uc010qbc.1_Missense_Mutation_p.V160G|ATP5C1_uc001ijv.3_Missense_Mutation_p.V209G NM_001001973 NP_001001973 P36542 ATPG_HUMAN Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1 (ATP5C1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 209 oxidative phosphorylation|respiratory electron transport chain mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 16 CTTAATACCGTTGCAAGTGCT 0.338000 89 18 0 0 1 0 0 RBMS3 27303 broad.mit.edu 37 3 29781274 29781274 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr3:29781274G>A uc003cel.3 + 4 833 c.463G>A c.(463-465)Gag>Aag p.E155K RBMS3_uc010hfq.3_Missense_Mutation_p.E155K|RBMS3_uc003cek.3_Missense_Mutation_p.E155K|RBMS3_uc010hfr.3_Missense_Mutation_p.E155K|RBMS3_uc003cem.3_Missense_Mutation_p.E154K NM_001003793 NP_001003793 Q6XE24 RBMS3_HUMAN Homo sapiens RNA binding motif, single stranded interacting protein 3 (RBMS3), transcript variant 1, mRNA. 155 RRM 2. cytoplasm RNA binding|nucleotide binding breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 11 Ovarian(412;0.0956) GGATGAGCAGGAGCTTGAGAA 0.418000 138 26 0 0 1 0 0 ATP10A 57194 broad.mit.edu 37 15 25928525 25928525 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr15:25928525G>A uc010ayu.3 - 16 3506 c.3400C>T c.(3400-3402)Ccc>Tcc p.P1134S NM_024490 NP_077816 O60312 AT10A_HUMAN Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA. 1134 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) ACGAGCGGGGGAAGTGACGAG 0.522000 31 18 0 0 1 0 0 C11orf35 256329 broad.mit.edu 37 11 557449 557449 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr11:557449G>A uc001lpx.3 - 6 726 c.663C>T c.(661-663)gcC>gcT p.A221A AX748330_uc001lpy.3_5'Flank|BC031953_uc001lpz.3_5'Flank NM_173573 NP_775844 Q8IXW0 CK035_HUMAN Homo sapiens chromosome 11 open reading frame 35 (C11orf35), mRNA. 221 NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1) 8 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) GATACCGGCGGGCAACGCTGT 0.617000 5 5 0 0 1 0 0 BC080605 0 broad.mit.edu 37 9 68413568 68413568 + RNA SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr9:68413568G>A uc004aex.3 + 0 c.123G>A Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763). TCCCCCAGTGGCGCCGGATCT 0.607000 1 2 0 0 1 0 0 FUT5 2527 broad.mit.edu 37 19 5866709 5866709 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr19:5866709G>A uc002mdo.4 - 1 1199 c.1028C>T c.(1027-1029)tCc>tTc p.S343F FUT5_uc010duo.3_Missense_Mutation_p.S343F|FUT5_uc021uno.1_Missense_Mutation_p.S343F NM_002034 NP_002025 Q11128 FUT5_HUMAN Homo sapiens fucosyltransferase 5 (alpha (1,3) fucosyltransferase) (FUT5), mRNA. 343 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 12 CCAGCTGAAGGAGCGAGGCCG 0.632000 51 15 0 0 1 0 0 LRRN1 57633 broad.mit.edu 37 3 3886862 3886862 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr3:3886862G>A uc003bpt.4 + 1 1298 c.537G>A c.(535-537)ttG>ttA p.L179L SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Silent_p.L179L NM_020873 NP_065924 Q6UXK5 LRRN1_HUMAN Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA. 179 integral to membrane NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 26 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) CCAACAAATTGAAAGTTATTG 0.383000 70 23 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26423240 26423240 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr22:26423240G>A uc003abz.1 + 42 7550 c.7300G>A c.(7300-7302)Gaa>Aaa p.E2434K MYO18B_uc003aca.1_Missense_Mutation_p.E2315K|MYO18B_uc010guy.1_Missense_Mutation_p.E2316K|MYO18B_uc010guz.1_Missense_Mutation_p.E2314K|MYO18B_uc011aka.1_Missense_Mutation_p.E1588K|MYO18B_uc011akb.1_Missense_Mutation_p.E1947K|MYO18B_uc010gva.1_Missense_Mutation_p.E417K|MYO18B_uc010gvb.1_Non-coding_Transcript NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN Homo sapiens myosin XVIIIB (MYO18B), mRNA. 2434 nucleus|sarcomere|unconventional myosin complex ATP binding|actin binding|motor activity p.D2433N(1) NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CCTCGACTACGAACGCAAGAC 0.562000 121 71 0 0 1 0 0 GYS2 2998 broad.mit.edu 37 12 21733377 21733377 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr12:21733377G>A uc001rfb.3 - 1 457 c.202C>T c.(202-204)Cca>Tca p.P68S NM_021957 NP_068776 P54840 GYS2_HUMAN Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA. 68 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 TCAAAATATGGACCTATCAGA 0.408000 95 13 0 0 1 0 0 UBN2 254048 broad.mit.edu 37 7 138958809 138958809 + Nonsense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr7:138958809G>A uc011kqr.2 + 10 1962 c.1962G>A c.(1960-1962)tgG>tgA p.W654* UBN2_uc003vuv.3_Nonsense_Mutation_p.W377* NM_173569 NP_775840 Q6ZU65 UBN2_HUMAN Homo sapiens ubinuclein 2 (UBN2), mRNA. 654 NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 42 CTAAGGGCTGGATGCAGGCAA 0.358000 31 25 0 0 1 0 0 CACNA1I 8911 broad.mit.edu 37 22 39966806 39966806 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr22:39966806G>A uc003ayc.3 + 0 49 c.49G>A c.(49-51)Gct>Act p.A17T CACNA1I_uc003ayd.3_Missense_Mutation_p.A17T NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA. 17 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) AGCCCCAGCCGCTGAGCCAGG 0.692000 31 23 0 0 1 0 0 PLXNB2 23654 broad.mit.edu 37 22 50716104 50716104 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr22:50716104G>A uc003bkv.4 - 32 5205 c.5112C>T c.(5110-5112)gtC>gtT p.V1704V PLXNB2_uc003bkt.1_Silent_p.V496V|PLXNB2_uc003bku.1_Silent_p.V689V NM_012401 NP_036533 O15031 PLXB2_HUMAN Homo sapiens plexin B2 (PLXNB2), mRNA. 1704 regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CCACCTCGTGGACATGCACGT 0.622000 128 43 0 0 1 0 0 INADL 10207 broad.mit.edu 37 1 62330003 62330003 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:62330003G>A uc001dab.3 + 19 2647 c.2533G>A c.(2533-2535)Gag>Aag p.E845K INADL_uc009waf.1_Missense_Mutation_p.E845K|INADL_uc001daa.2_Missense_Mutation_p.E845K|INADL_uc001dad.3_Missense_Mutation_p.E542K|INADL_uc001dac.3_Non-coding_Transcript NM_176877 NP_795352 Q8NI35 INADL_HUMAN Homo sapiens InaD-like (Drosophila) (INADL), mRNA. 845 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 AAAAGAGATAGAGCAAAGCAA 0.368000 50 20 0 0 1 0 0 DPYSL2 1808 broad.mit.edu 37 8 26510829 26510829 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr8:26510829C>T uc003xfb.2 + 12 1974 c.1543C>T c.(1543-1545)Cca>Tca p.P515S DPYSL2_uc003xfa.3_Missense_Mutation_p.P620S|DPYSL2_uc011lah.2_Missense_Mutation_p.P479S NM_001386 NP_001377 Q16555 DPYL2_HUMAN Homo sapiens dihydropyrimidinase-like 2 (DPYSL2), transcript variant 2, mRNA. 515 axon guidance|pyrimidine base catabolic process|signal transduction cytosol dihydropyrimidinase activity|protein binding breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1) 20 all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183) GACAGTCACTCCAGCCTCCTC 0.592000 218 45 0 0 1 0 0 CYB5RL 606495 broad.mit.edu 37 1 54645014 54645014 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:54645014G>A uc009vzo.3 - 6 872 c.552C>T c.(550-552)ctC>ctT p.L184L CYB5RL_uc001cww.3_Silent_p.L74L|CYB5RL_uc001cwy.4_Silent_p.L36L|CYB5RL_uc001cwx.4_Non-coding_Transcript NM_001031672 NP_001026842 Q6IPT4 NB5R5_HUMAN Homo sapiens cytochrome b5 reductase-like (CYB5RL), mRNA. 184 cytochrome-b5 reductase activity endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1) 8 CCAGCAAGAGGAGCTCACCAT 0.542000 18 11 0 0 1 0 0 KCNB1 3745 broad.mit.edu 37 20 47989977 47989977 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr20:47989977C>T uc002xur.1 - 1 2286 c.2120G>A c.(2119-2121)gGa>gAa p.G707E KCNB1_uc002xus.1_Missense_Mutation_p.G707E NM_004975 NP_004966 Q14721 KCNB1_HUMAN Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA. 707 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity p.A706S(1) central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) ACACTCCAGTCCAGCGACAGC 0.597000 59 13 0 0 1 0 0 GRAMD2 196996 broad.mit.edu 37 15 72459431 72459431 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr15:72459431C>T uc002atq.3 - 5 399 c.375G>A c.(373-375)gtG>gtA p.V125V GRAMD2_uc010bis.2_Silent_p.V125V NM_001012642 NP_001012660 Q8IUY3 GRAM2_HUMAN Homo sapiens GRAM domain containing 2 (GRAMD2), mRNA. 125 GRAM. integral to membrane cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 13 CAGGAATGACCACCTGAGAGG 0.567000 38 12 0 0 1 0 0 SERPINB6 5269 broad.mit.edu 37 6 2948628 2948628 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr6:2948628G>A uc003muk.3 - 5 3030 c.1035C>T c.(1033-1035)ttC>ttT p.F345F SERPINB6_uc003mui.3_Silent_p.F228F|SERPINB6_uc003muj.3_Non-coding_Transcript|SERPINB6_uc003mul.3_Silent_p.F345F|SERPINB6_uc003mum.3_Silent_p.F345F|SERPINB6_uc003mun.3_Silent_p.F345F|SERPINB6_uc003muo.3_Silent_p.F345F NM_004568 NP_004559 P35237 SPB6_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 6 (SERPINB6), transcript variant 1, mRNA. 345 regulation of proteolysis centrosome|cytosol|protein complex protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2) 17 Ovarian(93;0.0412) all_hematologic(90;0.0895) Drotrecogin alfa(DB00055) AGCGGGGGACGAATCTGGCAC 0.582000 35 15 0 0 1 0 0 KIAA1467 57613 broad.mit.edu 37 12 13221575 13221575 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr12:13221575C>T uc001rbi.3 + 8 1321 c.1298C>T c.(1297-1299)cCt>cTt p.P433L KIAA1467_uc021qvn.1_Non-coding_Transcript NM_020853 NP_065904 A2RU67 K1467_HUMAN Homo sapiens KIAA1467 (KIAA1467), mRNA. 433 integral to membrane NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4) 36 Prostate(47;0.184) BRCA - Breast invasive adenocarcinoma(232;0.157) CAGCCTACTCCTGGATATTTC 0.423000 97 25 0 0 1 0 0 SHANK3 85358 broad.mit.edu 37 22 51160283 51160283 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr22:51160283C>T uc003bne.1 + 21 4070 c.4070C>T c.(4069-4071)cCc>cTc p.P1357L SHANK3_uc003bnf.1_Missense_Mutation_p.P804L NM_001080420 NP_001073889 F2Z3L0 F2Z3L0_HUMAN Homo sapiens SH3 and multiple ankyrin repeat domains 3 (SHANK3), mRNA. 1357 central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5) 8 all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.22) TCAGGGAAGCCCAGCAGTGAG 0.711000 11 3 0 0 1 0 0 SV2C 22987 broad.mit.edu 37 5 75581618 75581618 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr5:75581618G>A uc003kei.1 + 5 1194 c.1060G>A c.(1060-1062)Gat>Aat p.D354N NM_014979 NP_055794 Q496J9 SV2C_HUMAN Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA. 354 neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) TGGAAAACATGATGAAGCTTG 0.473000 42 4 0 0 1 0 0 RAI1 10743 broad.mit.edu 37 17 17696911 17696911 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr17:17696911C>T uc002grm.3 + 2 1118 c.649C>T c.(649-651)Ccc>Tcc p.P217S RAI1_uc002grn.1_Missense_Mutation_p.P217S NM_030665 NP_109590 Q7Z5J4 RAI1_HUMAN Homo sapiens retinoic acid induced 1 (RAI1), mRNA. 217 Gln-rich. cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) CCAGTCCTTCCCCACCTCCTC 0.622000 46 14 0 0 1 0 0 F2 2147 broad.mit.edu 37 11 46750213 46750213 + Splice_Site SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr11:46750213G>A uc001ndf.4 + 11 1342 c.1299_splice c.e11-1 p.R433_splice NM_000506 NP_000497 P00734 THRB_HUMAN Homo sapiens coagulation factor II (thrombin) (F2), mRNA. 433 Peptidase S1. STAT protein import into nucleus|activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|tyrosine phosphorylation of STAT protein Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular space|plasma membrane|soluble fraction calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 27 all_lung(304;0.000414)|Lung NSC(402;0.0011) BRCA - Breast invasive adenocarcinoma(625;0.146) Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898) GGTCTCTGCAGGTACGAGCGA 0.537000 59 14 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136566574 136566574 + Nonsense_Mutation SNP C A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr2:136566574C>A uc002tuu.1 - 7 3354 c.3343G>T c.(3343-3345)Gag>Tag p.E1115* NM_002299 NP_002290 P09848 LPH_HUMAN Homo sapiens lactase (LCT), mRNA. 1115 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) CCCTTCTGCTCCTGCCTGTAT 0.582000 90 25 3.69857e-22 3.87753e-22 1 1 0 TIMP4 7079 broad.mit.edu 37 3 12200284 12200284 + Silent SNP C G G rs150776929 TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr3:12200284C>G uc003bwo.3 - 0 568 c.57G>C c.(55-57)gcG>gcC p.A19A SYN2_uc003bwl.1_Intron|SYN2_uc003bwm.3_Intron|SYN2_uc003bwn.3_Intron NM_003256 NP_003247 Q99727 TIMP4_HUMAN Homo sapiens TIMP metallopeptidase inhibitor 4 (TIMP4), mRNA. 19 metal ion binding|metalloendopeptidase inhibitor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 11 GCCGCAGCAACGCCAGCAGCC 0.706000 36 7 0 0 1 0 0 MEN1 4221 broad.mit.edu 37 11 64571809 64571809 + Silent SNP G T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr11:64571809G>T uc001obj.3 - 9 1918 c.1845C>A c.(1843-1845)ctC>ctA p.L615L MAP4K2_uc001obh.3_5'Flank|MAP4K2_uc001obi.3_5'Flank|MAP4K2_uc010rnp.1_5'Flank|MEN1_uc001obk.3_Silent_p.L615L|MEN1_uc001obl.3_Silent_p.L575L|MEN1_uc001obm.3_Silent_p.L610L|MEN1_uc001obn.3_Silent_p.L615L|MEN1_uc001obo.3_Silent_p.L615L|MEN1_uc001obq.3_Silent_p.L615L|MEN1_uc001obr.3_Silent_p.L615L NM_130800 NP_570716 O00255 MEN1_HUMAN Homo sapiens multiple endocrine neoplasia I (MEN1), transcript variant e1B, mRNA. 615 DNA repair|MAPKKK cascade|histone lysine methylation|negative regulation of JNK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to UV|response to gamma radiation|transcription, DNA-dependent chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction R-SMAD binding|Y-form DNA binding|double-stranded DNA binding|four-way junction DNA binding|protein N-terminus binding|protein binding, bridging|transcription regulatory region DNA binding NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2) 337 CAGTAGTTCAGAGGCCTTTGC 0.592000 """D, Mis, N, F, S""" """parathyroid tumors, Pancreatic neuroendocrine tumors""" """parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid""" Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated 87 52 7.34454e-26 7.72484e-26 1 1 0 C9orf174 100499483 broad.mit.edu 37 9 100092778 100092778 + Missense_Mutation SNP A G G TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr9:100092778A>G uc011lut.2 + 31 3558 c.2552A>G c.(2551-2553)gAg>gGg p.E851G C9orf174_uc004axe.2_Missense_Mutation_p.E851G|C9orf174_uc011lus.2_Missense_Mutation_p.E669G|C9orf174_uc004axg.2_Missense_Mutation_p.E712G|C9orf174_uc004axh.2_Non-coding_Transcript|C9orf174_uc010msm.1_Non-coding_Transcript|C9orf174_uc004axf.3_Missense_Mutation_p.E712G|C9orf174_uc011luv.1_Missense_Mutation_p.E709G NM_020893 NP_065944 Q9P1Z9 CI174_HUMAN Homo sapiens chromosome 9 open reading frame 174 (C9orf174), mRNA. 851 Glu-rich. integral to membrane breast(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(1) 16 ATAACTGAAGAGGTGCTGGGG 0.453000 40 6 0 0 1 0 0 SLC25A19 60386 broad.mit.edu 37 17 73274334 73274334 + Missense_Mutation SNP G T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr17:73274334G>T uc002jns.4 - 3 1452 c.542C>A c.(541-543)aCc>aAc p.T181N SLC25A19_uc010dge.3_Missense_Mutation_p.T124N|SLC25A19_uc002jnv.4_Missense_Mutation_p.T181N|SLC25A19_uc002jnu.4_Missense_Mutation_p.T181N|SLC25A19_uc002jnw.4_Missense_Mutation_p.T181N|SLC25A19_uc002jnt.4_Missense_Mutation_p.T181N NM_021734 NP_068380 Q9HC21 TPC_HUMAN Homo sapiens solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 (SLC25A19), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 181 integral to membrane|mitochondrial inner membrane binding|deoxynucleotide transmembrane transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 9 all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08) all cancers(21;6.82e-07)|Epithelial(20;6.86e-06) GGCGATCAAGGTGGGAGCCAA 0.557000 226 27 1.55811e-20 1.62825e-20 1 1 0 HEATR4 399671 broad.mit.edu 37 14 73989171 73989171 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr14:73989171G>A uc021rwe.1 - 2 1034 c.686C>T c.(685-687)tCc>tTc p.S229F HEATR4_uc021rwf.1_Missense_Mutation_p.S182F|HEATR4_uc010tub.1_Missense_Mutation_p.S229F NM_001220484 NP_001207413 Homo sapiens HEAT repeat containing 4 (HEATR4), transcript variant 1, mRNA. breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719) CTTGTTGGGGGATGCCCCAGG 0.607000 41 22 0 0 1 0 0 THSD4 79875 broad.mit.edu 37 15 72020956 72020956 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr15:72020956G>A uc002atb.1 + 7 1505 c.1426G>A c.(1426-1428)Gag>Aag p.E476K THSD4_uc002atd.1_Missense_Mutation_p.E150K|THSD4_uc010ukg.1_Missense_Mutation_p.E116K|THSD4_uc002ate.2_Missense_Mutation_p.E116K NM_024817 NP_079093 Q6ZMP0 THSD4_HUMAN Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA. 476 proteinaceous extracellular matrix metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 AGGAAAATACGAGGGCGGAGG 0.507000 125 27 0 0 1 0 0 SSTR3 6753 broad.mit.edu 37 22 37603702 37603702 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr22:37603702G>A uc003ara.3 - 1 203 c.141C>T c.(139-141)atC>atT p.I47I SSTR3_uc003arb.3_Silent_p.I47I|SSTR3_uc021wos.1_Silent_p.I47I NM_001051 NP_001042 P32745 SSR3_HUMAN Homo sapiens somatostatin receptor 3 (SSTR3), mRNA. 47 G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation integral to plasma membrane|nonmotile primary cilium somatostatin receptor activity NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1) 14 AGACCAGGGGGATCAGAACGC 0.667000 120 16 0 0 1 0 0 MAPK3 5595 broad.mit.edu 37 16 30133193 30133193 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr16:30133193C>T uc002dws.3 - 1 405 c.305G>A c.(304-306)gGc>gAc p.G102D BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.3_5'UTR|MAPK3_uc002dwv.4_Missense_Mutation_p.G102D|MAPK3_uc002dwt.3_Missense_Mutation_p.G102D NM_002746 NP_002737 P27361 MK03_HUMAN Homo sapiens mitogen-activated protein kinase 3 (MAPK3), transcript variant 1, mRNA. 102 Protein kinase. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter cytosol|nucleoplasm ATP binding|MAP kinase activity|phosphatase binding Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605) GTCTCGGATGCCGATGACATT 0.607000 26 3 0 0 1 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41039576 41039576 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr5:41039576C>T uc003jmj.4 - 19 2525 c.2035G>A c.(2035-2037)Gaa>Aaa p.E679K HEATR7B2_uc003jmi.4_Missense_Mutation_p.E234K NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA. 679 binding breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4) 133 AAAAACTTTTCCTGATTTTGG 0.333000 6 5 0 0 1 0 0 GNAS 2778 broad.mit.edu 37 20 57428441 57428441 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr20:57428441G>A uc002xzw.3 + 0 406 c.121G>A c.(121-123)Gct>Act p.A41T GNAS-AS1_uc002xzs.2_5'Flank|GNAS_uc021wfl.1_Intron|GNAS_uc002xzt.3_Intron|GNAS_uc010gjq.3_Intron|GNAS_uc002xzv.3_Non-coding_Transcript NM_080425 NP_001070958 P63092 GNAS2_HUMAN Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA. 0 G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) TGCCCCCGGTGCTGGGCCTAG 0.632000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 5 4 0 0 1 0 0 ADCY10 55811 broad.mit.edu 37 1 167798536 167798536 + Missense_Mutation SNP T C C TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:167798536T>C uc001ger.3 - 25 4017 c.3719A>G c.(3718-3720)aAt>aGt p.N1240S ADCY10_uc009wvj.3_Non-coding_Transcript|ADCY10_uc010plj.2_Missense_Mutation_p.N1087S|ADCY10_uc009wvk.3_Missense_Mutation_p.N1148S NM_018417 NP_001161221 Q96PN6 ADCYA_HUMAN Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA. 1240 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction ATP binding|adenylate cyclase activity|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 CAGTGCAGTATTCATTTGCAT 0.418000 84 4 0 0 1 0 0 PRDX1 5052 broad.mit.edu 37 1 45980606 45980606 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:45980606G>A uc001coc.3 - 3 637 c.322C>T c.(322-324)Ccg>Tcg p.P108S PRDX1_uc001cob.3_Missense_Mutation_p.P108S|PRDX1_uc001coa.3_Missense_Mutation_p.P108S|PRDX1_uc021omw.1_Missense_Mutation_p.P108S NM_181696 NP_859048 Q06830 PRDX1_HUMAN Homo sapiens peroxiredoxin 1 (PRDX1), transcript variant 2, mRNA. 108 Thioredoxin. cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|skeletal system development melanosome|mitochondrion|nucleus protein binding|thioredoxin peroxidase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1) 12 Acute lymphoblastic leukemia(166;0.155) GTGCGCTTCGGGTCTGATACC 0.458000 153 23 0 0 1 0 0 DIAPH3 81624 broad.mit.edu 37 13 60545107 60545107 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr13:60545107G>A uc001vht.3 - 15 2057 c.1838C>T c.(1837-1839)cCa>cTa p.P613L DIAPH3_uc001vhu.3_Missense_Mutation_p.P350L|DIAPH3_uc001vhv.3_Missense_Mutation_p.P191L NM_001042517 NP_001035982 Q9NSV4 DIAP3_HUMAN Homo sapiens diaphanous homolog 3 (Drosophila) (DIAPH3), transcript variant 1, mRNA. 613 FH1.|Pro-rich. P -> L (in Ref. 3; BAE96351). actin cytoskeleton organization Rho GTPase binding|actin binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) CAGGGGAGGTGGTGGAGGCAC 0.547000 52 5 0 0 1 0 0 PNN 5411 broad.mit.edu 37 14 39650381 39650383 + Missense_Mutation DNP TC AT AT rs1065618 TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr14:39650381_39650383TC>AT uc001wuw.4 + 8 1565_1567 c.1468_1470TC>AT c.(1468-1470)tcc>AT p.S490del NM_002687 NP_002678 Q9H307 PININ_HUMAN Homo sapiens pinin, desmosome associated protein (PNN), mRNA. 490 Gln-rich. cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck DNA binding|protein binding|structural molecule activity breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1) 27 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0119) tcaatcccagtcccaaccAGTAC 0.522000 42 9 0 0 1 0 0 CFB 629 broad.mit.edu 37 6 31914840 31914840 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr6:31914840C>T uc003nyj.4 + 2 633 c.355C>T c.(355-357)Ccc>Tcc p.P119S CFB_uc011dor.2_Missense_Mutation_p.P621S|CFB_uc011dos.1_3'UTR|CFB_uc003nyi.2_Missense_Mutation_p.P119S NM_001710 NP_001701 P00751 CFAB_HUMAN Homo sapiens complement factor B (CFB), mRNA. 119 Sushi 2. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 GCCCCGGTCTCCCTACTACAA 0.537000 55 47 0 0 1 0 0 GAB1 2549 broad.mit.edu 37 4 144361299 144361299 + Missense_Mutation SNP T A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr4:144361299T>A uc003ijd.3 + 5 1708 c.1349T>A c.(1348-1350)aTg>aAg p.M450K GAB1_uc003ije.3_Missense_Mutation_p.M450K|GAB1_uc011chq.2_Missense_Mutation_p.M347K NM_207123 NP_997006 Q13480 GAB1_HUMAN Homo sapiens GRB2-associated binding protein 1 (GAB1), transcript variant 1, mRNA. 450 Pro-rich. cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway cytosol SH3/SH2 adaptor activity breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 30 all_hematologic(180;0.158) TACGTCCCAATGAATCCCAAT 0.353000 61 38 0 0 1 0 0 KRTAP12-3 386683 broad.mit.edu 37 21 46077965 46077965 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr21:46077965C>T uc002zft.3 + 0 117 c.69C>T c.(67-69)tcC>tcT p.S23S TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron NM_198697 NP_941970 P60328 KR123_HUMAN Homo sapiens keratin associated protein 12-3 (KRTAP12-3), mRNA. 23 14 X 5 AA approximate repeats. intermediate filament central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 GCCAGGCATCCTGCTATGTGC 0.672000 114 62 0 0 1 0 0 abParts 0 broad.mit.edu 37 14 106452777 106452777 + RNA SNP T G G TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr14:106452777T>G uc021ser.1 - 2607 c.45183A>C Parts of antibodies, mostly variable regions. GCCCTGAAACTTCTGTGCATA 0.557000 166 5 0 0 1 0 0 CXorf36 79742 broad.mit.edu 37 X 45059938 45059938 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chrX:45059938C>T uc004dgg.2 - 0 209 c.134G>A c.(133-135)aGa>aAa p.R45K CXorf36_uc004dgi.3_Missense_Mutation_p.R45K NM_176819 NP_789789 Q9H7Y0 CX036_HUMAN Homo sapiens chromosome X open reading frame 36 (CXorf36), transcript variant 1, mRNA. 45 extracellular region endometrium(1)|large_intestine(2)|lung(4) 7 GTAGCTGGTTCTGACTTGGGG 0.502000 25 7 0 0 1 0 0 RASAL1 8437 broad.mit.edu 37 12 113557192 113557192 + Nonsense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr12:113557192C>T uc001tun.2 - 6 786 c.485G>A c.(484-486)tGg>tAg p.W162* RASAL1_uc010syp.2_Nonsense_Mutation_p.W162*|RASAL1_uc001tul.3_Nonsense_Mutation_p.W162*|RASAL1_uc001tum.2_Nonsense_Mutation_p.W162*|RASAL1_uc010syq.2_Nonsense_Mutation_p.W162*|RASAL1_uc001tuo.4_Nonsense_Mutation_p.W162*|RASAL1_uc010syr.2_Nonsense_Mutation_p.W162* NM_001193520 NP_001180449 O95294 RASL1_HUMAN Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA. 162 C2 2. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|metal ion binding|phospholipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2) 43 CTGGCTGCCCCAAAACACACG 0.587000 8 4 0 0 1 0 0 DGKG 1608 broad.mit.edu 37 3 185879415 185879415 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr3:185879415G>A uc003fqa.3 - 23 2791 c.2254C>T c.(2254-2256)Ccc>Tcc p.P752S DGKG_uc003fqb.3_Missense_Mutation_p.P713S|DGKG_uc003fqc.3_Missense_Mutation_p.P727S|DGKG_uc011brx.2_Missense_Mutation_p.P693S NM_001346 NP_001337 P49619 DGKG_HUMAN Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA. 752 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 42 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) TGCATCCAGGGTTCTCCATCC 0.463000 48 14 0 0 1 0 0 ZFP90 146198 broad.mit.edu 37 16 68598373 68598373 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr16:68598373C>T uc010cff.3 + 4 1975 c.1683C>T c.(1681-1683)gcC>gcT p.A561A ZFP90_uc002ewb.3_3'UTR|ZFP90_uc002ewc.3_3'UTR|ZFP90_uc002ewd.3_Silent_p.A561A|ZFP90_uc002ewe.3_Silent_p.A561A NM_133458 NP_597715 Q8TF47 ZFP90_HUMAN Homo sapiens zinc finger protein 90 homolog (mouse) (ZFP90), mRNA. 561 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946) GTGGGAAAGCCTTTAGTCAAA 0.438000 92 57 0 0 1 0 0 IGSF1 3547 broad.mit.edu 37 X 130412495 130412495 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chrX:130412495G>A uc004ewe.4 - 11 2279 c.1996C>T c.(1996-1998)Cat>Tat p.H666Y IGSF1_uc004ewd.3_Missense_Mutation_p.H661Y|IGSF1_uc022cdv.1_Missense_Mutation_p.H652Y|IGSF1_uc004ewf.2_Missense_Mutation_p.H641Y NM_001170961 NP_001164432 Q8N6C5 IGSF1_HUMAN Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA. 661 Ig-like C2-type 6. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 TCCCATGAATGGCAGTGGTAG 0.637000 24 31 0 0 1 0 0 IKBKE 9641 broad.mit.edu 37 1 206649565 206649565 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:206649565C>T uc001hdz.2 + 5 978 c.400C>T c.(400-402)Cgc>Tgc p.R134C IKBKE_uc009xbu.2_Missense_Mutation_p.R134C|IKBKE_uc001hea.2_Missense_Mutation_p.R49C|IKBKE_uc009xbv.2_Missense_Mutation_p.R134C NM_014002 NP_001180250 Q14164 IKKE_HUMAN Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon (IKBKE), transcript variant 1, mRNA. 134 Protein kinase. DNA damage response, signal transduction resulting in induction of apoptosis|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway PML body|cytosol|endosome membrane|plasma membrane ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding p.R134R(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2) 32 Breast(84;0.137) CATTGTGCATCGCGACATCAA 0.627000 54 6 0 0 1 0 0 HIPK1 204851 broad.mit.edu 37 1 114511114 114511114 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:114511114G>A uc001eem.3 + 12 2776 c.2615G>A c.(2614-2616)aGt>aAt p.S872N HIPK1_uc001eel.3_Missense_Mutation_p.S872N|HIPK1_uc001een.3_Missense_Mutation_p.S872N|HIPK1_uc001eeo.3_Missense_Mutation_p.S498N|HIPK1_uc001eep.3_Missense_Mutation_p.S478N|HIPK1_uc001eeq.3_Missense_Mutation_p.S164N NM_198268 NP_938010 Q86Z02 HIPK1_HUMAN Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA. 872 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2) 39 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GTTGGGAGCAGTCCCCTCCGC 0.493000 67 71 0 0 1 0 0 C5orf20 140947 broad.mit.edu 37 5 134782113 134782113 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr5:134782113G>A uc003lav.3 - 0 926 c.686C>T c.(685-687)cCa>cTa p.P229L NM_130848 NP_570900 Q8TF63 DCNP1_HUMAN Homo sapiens chromosome 5 open reading frame 20 (C5orf20), mRNA. 229 Ser-rich. nucleus endometrium(1)|lung(1)|prostate(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AGAATGCAGTGGAGGTTGTTG 0.572000 52 11 0 0 1 0 0 LOC390660 390660 broad.mit.edu 37 15 82620559 82620559 + RNA SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr15:82620559G>A uc021ssl.1 + 18 c.4039G>A LOC390660_uc010bls.1_Non-coding_Transcript Homo sapiens FLJ00317 protein (LOC390660), non-coding RNA. TGGTTGTCAGGAACGCCGGCT 0.647000 25 8 0 0 1 0 0 RAD51C 5889 broad.mit.edu 37 17 56811484 56811485 + Missense_Mutation DNP GG AA AA TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr17:56811484_56811485GG>AA uc002iwu.3 + 8 1074_1075 c.1032_1033GG>AA c.(1030-1035)caggga>caAAga p.G345R RAD51C_uc010ddc.3_Non-coding_Transcript|RAD51C_uc002iww.3_Non-coding_Transcript NM_058216 NP_478123 O43502 RA51C_HUMAN Homo sapiens RAD51 homolog C (S. cerevisiae) (RAD51C), transcript variant 1, mRNA. 345 DNA repair|blood coagulation mitochondrion|nucleoplasm|perinuclear region of cytoplasm ATP binding|DNA binding|DNA-dependent ATPase activity upper_aerodigestive_tract(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) TTCAGCCTCAGGGATTTAGAGA 0.342000 Homologous recombination Hereditary Breast-Ovarian Cancer, non-BRCA1/2 4 11 0 0 1 0 0 PRPSAP1 5635 broad.mit.edu 37 17 74308964 74308964 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr17:74308964G>A uc010wtb.1 - 8 898 c.677C>T c.(676-678)tCc>tTc p.S226F PRPSAP1_uc010wta.1_Missense_Mutation_p.S329F NM_002766 NP_002757 Q14558 KPRA_HUMAN Homo sapiens phosphoribosyl pyrophosphate synthetase-associated protein 1 (PRPSAP1), mRNA. 300 nucleotide biosynthetic process enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity p.P226P(1) cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 17 GTCTACGGAGGACTCCTCAAT 0.483000 85 14 0 0 1 0 0 MYOM3 127294 broad.mit.edu 37 1 24387573 24387573 + Splice_Site SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:24387573C>T uc001bin.4 - 35 4135 c.3972_splice c.e35-1 p.K1324_splice MYOM3_uc001bil.4_Splice_Site_p.K217_splice|MYOM3_uc001bim.4_Splice_Site_p.K981_splice NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN Homo sapiens myomesin family, member 3 (MYOM3), mRNA. 1324 NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) GGCCAAGGTTCTGAAAAACAG 0.488000 75 25 0 0 1 0 0 HOOK2 29911 broad.mit.edu 37 19 12883636 12883636 + Nonsense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr19:12883636G>A uc002muy.2 - 4 517 c.346C>T c.(346-348)Cag>Tag p.Q116* HOOK2_uc002muz.2_Nonsense_Mutation_p.Q116* NM_013312 NP_037444 Q96ED9 HOOK2_HUMAN Homo sapiens hook homolog 2 (Drosophila) (HOOK2), transcript variant 1, mRNA. 116 Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with microtubules. early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport FHF complex|centrosome|microtubule identical protein binding|microtubule binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1) 20 AGCACCAGCTGAAGCAGCTTG 0.597000 69 8 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70905965 70905965 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr16:70905965G>A uc002ezr.3 - 64 11214 c.11063C>T c.(11062-11064)tCa>tTa p.S3688L NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 3689 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) AATTGTAGCTGAAACAGGCCA 0.438000 41 23 0 0 1 0 0 OR6B1 135946 broad.mit.edu 37 7 143701854 143701854 + Missense_Mutation SNP C A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr7:143701854C>A uc003wdt.1 + 0 765 c.765C>A c.(763-765)ttC>ttA p.F255L NM_001005281 NP_001005281 O95007 OR6B1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily B, member 1 (OR6B1), mRNA. 255 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 27 Melanoma(164;0.0783) CCATTATTTTCATGTATGCTC 0.423000 86 44 1.15183e-24 1.20952e-24 1 1 0 MYH1 4619 broad.mit.edu 37 17 10401113 10401113 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr17:10401113C>T uc002gmo.3 - 30 4397 c.4303G>A c.(4303-4305)Gat>Aat p.D1435N AK097500_uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA. 1435 muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity p.D1435N(2) NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 CTCTCAACATCAATCATGAGG 0.458000 89 4 0 0 1 0 0 SLC6A3 6531 broad.mit.edu 37 5 1422077 1422077 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr5:1422077G>A uc003jck.3 - 4 832 c.706C>T c.(706-708)Ccg>Tcg p.P236S NM_001044 NP_001035 Q01959 SC6A3_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA. 236 cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) TGCCACCGCGGAGGCCCCAGG 0.662000 47 18 0 0 1 0 0 TH 7054 broad.mit.edu 37 11 2190934 2190934 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr11:2190934G>A uc001lvq.3 - 2 370 c.351C>T c.(349-351)ttC>ttT p.F117F TH_uc001lvp.3_Silent_p.F113F|TH_uc001lvr.3_Silent_p.F86F|TH_uc010qxj.2_Silent_p.F90F|TH_uc001lvs.3_Silent_p.F86F|TH_uc001lvt.3_Silent_p.F90F|TH_uc009ydh.1_5'Flank NM_199292 NP_954986 P07101 TY3H_HUMAN Homo sapiens tyrosine hydroxylase (TH), transcript variant 1, mRNA. 117 dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum protein binding|tyrosine 3-monooxygenase activity NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1) 11 all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416) Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239) BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154) L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360) CCCTCGGGGAGAAGAGCAGGT 0.667000 30 9 0 0 1 0 0 ZNF724P 440519 broad.mit.edu 37 19 23415043 23415043 + Missense_Mutation SNP T C C TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr19:23415043T>C uc021uru.1 - 1 184 c.56A>G c.(55-57)cAa>cGa p.Q19R Homo sapiens zinc finger protein 724, pseudogene (ZNF724P), non-coding RNA. endometrium(3)|kidney(1)|lung(2)|ovary(2) 8 GTCCAGGCATTGCCACTCCTC 0.423000 121 27 0 0 1 0 0 PRIM2 5558 broad.mit.edu 37 6 57512603 57512603 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr6:57512603C>T uc003pdx.3 + 14 1515 c.1428C>T c.(1426-1428)gtC>gtT p.V476V NM_000947 NP_000938 P49643 PRI2_HUMAN Homo sapiens primase, DNA, polypeptide 2 (58kDa) (PRIM2), mRNA. 477 DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm 4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1) 59 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) AACCAAGTGTCCAGAAAACCA 0.398000 306 22 0 0 1 0 0 GRM7 2917 broad.mit.edu 37 3 7348231 7348231 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr3:7348231C>T uc003bqm.2 + 3 1199 c.925C>T c.(925-927)Ctt>Ttt p.L309F GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.L309F|GRM7_uc003bql.2_Missense_Mutation_p.L309F|GRM7_uc003bqn.1_5'UTR NM_000844 NP_000835 Q14831 GRM7_HUMAN Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA. 309 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) TGGCCATTTTCTTTGGGTGGG 0.473000 46 12 0 0 1 0 0 ZNFX1 57169 broad.mit.edu 37 20 47865792 47865792 + Missense_Mutation SNP C A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr20:47865792C>A uc002xui.3 - 13 4016 c.3769G>T c.(3769-3771)Ggc>Tgc p.G1257C NM_021035 NP_066363 Q9P2E3 ZNFX1_HUMAN Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA. 1257 metal ion binding cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 60 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) AGCATGGGGCCTATTTGATTG 0.517000 114 18 3.32936e-07 3.40801e-07 1 1 0 RNF40 9810 broad.mit.edu 37 16 30779532 30779532 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr16:30779532C>T uc002dzq.3 + 12 2480 c.1660C>T c.(1660-1662)Cct>Tct p.P554S RNF40_uc010caa.3_Missense_Mutation_p.P554S|RNF40_uc010cab.3_Missense_Mutation_p.P454S|RNF40_uc010vfa.2_Intron|RNF40_uc010vfb.2_Missense_Mutation_p.P246S|RNF40_uc002dzr.3_Missense_Mutation_p.P554S|RNF40_uc010vfc.1_5'Flank NM_014771 NP_055586 O75150 BRE1B_HUMAN Homo sapiens ring finger protein 40 (RNF40), transcript variant 1, mRNA. 554 histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process nucleus|synaptosome|ubiquitin ligase complex protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2) 30 Colorectal(24;0.198) TGGGCCAGGCCCTGTCAGTAC 0.632000 54 23 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124358207 124358208 + Missense_Mutation DNP CC TT TT TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr12:124358207_124358208CC>TT uc001uft.4 + 44 7559_7560 c.7534_7535CC>TT c.(7534-7536)ccc>TTc p.P2512F NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA. 2512 AAA 3 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TTACGGCCCACCCATGGGAAAA 0.480000 15 5 0 0 1 0 0 HOXA3 3200 broad.mit.edu 37 7 27148121 27148121 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr7:27148121C>T uc011jzl.2 - 2 945 c.745G>A c.(745-747)Gat>Aat p.D249N HOXA3_uc003syk.3_Missense_Mutation_p.D249N NM_030661 NP_705895 O43365 HXA3_HUMAN Homo sapiens homeobox A3 (HOXA3), transcript variant 1, mRNA. 249 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1) 29 CCCTTCTGATCCTTTTTGTAC 0.602000 125 58 0 0 1 0 0 VPS35 55737 broad.mit.edu 37 16 46702913 46702913 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr16:46702913G>A uc002eef.4 - 12 1675 c.1576C>T c.(1576-1578)Cgc>Tgc p.R526C VPS35_uc002eed.3_Missense_Mutation_p.R347C|VPS35_uc002eee.3_Missense_Mutation_p.R487C NM_018206 NP_060676 Q96QK1 VPS35_HUMAN Homo sapiens vacuolar protein sorting 35 homolog (S. cerevisiae) (VPS35), mRNA. 526 R -> G (in Ref. 5; BAA91790). protein transport|retrograde transport, endosome to Golgi cytosol|endosome|membrane protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1) 23 all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) AGTGTGAAGCGAATCCGCTGA 0.368000 60 18 0 0 1 0 0 AGBL1 123624 broad.mit.edu 37 15 86807791 86807791 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr15:86807791G>A uc002blz.1 + 9 1331 c.1251G>A c.(1249-1251)ccG>ccA p.P417P AGBL1_uc002bma.1_Silent_p.P148P|AGBL1_uc002bmb.1_Silent_p.P111P NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA. 417 P -> L (in dbSNP:rs8029810). C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 AGGCTTCCCCGAAAGCAGATG 0.428000 72 48 0 0 1 0 0 DHRS7C 201140 broad.mit.edu 37 17 9676088 9676088 + Nonsense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr17:9676088C>T uc010vvb.2 - 4 739 c.726G>A c.(724-726)tgG>tgA p.W242* DHRS7C_uc010cof.3_Nonsense_Mutation_p.W241* NM_001220493 NP_001207422 A6NNS2 DRS7C_HUMAN Homo sapiens dehydrogenase/reductase (SDR family) member 7C (DHRS7C), transcript variant 1, mRNA. 242 extracellular region binding|oxidoreductase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9) 15 TCTCACATTTCCAAATGGAAG 0.547000 24 18 0 0 1 0 0 ACSM1 116285 broad.mit.edu 37 16 20673152 20673152 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr16:20673152G>A uc002dhm.1 - 5 1024 c.956C>T c.(955-957)tCt>tTt p.S319F ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Missense_Mutation_p.S319F NM_052956 NP_443188 Q08AH1 ACSM1_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA. 319 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2) 42 TCGATATATAGATGATACCCC 0.368000 36 5 0 0 1 0 0 PLCL2 23228 broad.mit.edu 37 3 17052819 17052819 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr3:17052819C>T uc011awc.2 + 2 2053 c.1957C>T c.(1957-1959)Cca>Tca p.P653S PLCL2_uc011awd.2_Missense_Mutation_p.P535S NM_001144382 NP_001137854 Q9UPR0 PLCL2_HUMAN Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA. 661 PI-PLC Y-box. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 CAATGAAAATCCAGGGGACTT 0.393000 77 20 0 0 1 0 0 ANKFN1 162282 broad.mit.edu 37 17 54403646 54403646 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr17:54403646G>A uc002iun.1 + 2 162 c.127G>A c.(127-129)Gat>Aat p.D43N NM_153228 NP_694960 Q8N957 ANKF1_HUMAN Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA. 43 NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1) 53 AAGCCAATGTGATTTATTGAA 0.408000 20 46 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228504556 228504556 + Missense_Mutation SNP A T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:228504556A>T uc009xez.1 + 50 13476 c.13432A>T c.(13432-13434)Agc>Tgc p.S4478C OBSCN_uc001hsn.3_Missense_Mutation_p.S4478C NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 4478 Ig-like 46. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GCCGGATGACAGCGACTGGAC 0.706000 9 4 0 0 1 0 0 NOBOX 135935 broad.mit.edu 37 7 144101650 144101650 + Splice_Site SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr7:144101650G>A uc022aoj.1 - 2 210 c.210_splice c.e2+1 p.S70_splice NM_001080413 NP_001073882 O60393 NOBOX_HUMAN Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA. 70 cell differentiation|oogenesis nucleus sequence-specific DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1) 26 Melanoma(164;0.14) ccCCCGTACTGATTTGAGGGT 0.557000 29 26 0 0 1 0 0 PLA2G3 50487 broad.mit.edu 37 22 31534276 31534276 + Nonsense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr22:31534276C>T uc003aka.3 - 2 897 c.768G>A c.(766-768)tgG>tgA p.W256* NM_015715 NP_056530 Q9NZ20 PA2G3_HUMAN Homo sapiens phospholipase A2, group III (PLA2G3), mRNA. 256 Phospholipase A2-like. cilium morphogenesis|lipid catabolic process|phospholipid metabolic process centriole|extracellular space|plasma membrane calcium ion binding|calcium-dependent phospholipase A2 activity large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 18 CCCACCAGTACCACGCCACAC 0.617000 30 10 0 0 1 0 0 KRT28 162605 broad.mit.edu 37 17 38955845 38955845 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr17:38955845G>A uc002hvh.1 - 0 367 c.301C>T c.(301-303)Ctg>Ttg p.L101L NM_181535 NP_853513 Q7Z3Y7 K1C28_HUMAN Homo sapiens keratin 28 (KRT28), mRNA. 101 Coil 1A.|Rod. cytoplasm|intermediate filament structural molecule activity NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 Breast(137;0.000301) ACATTATCCAGGTAGGATGCC 0.468000 104 17 0 0 1 0 0 EPHA6 285220 broad.mit.edu 37 3 97124035 97124035 + Nonsense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr3:97124035C>T uc010how.1 + 5 1691 c.1648C>T c.(1648-1650)Caa>Taa p.Q550* NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA. 455 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 CTGGGCATCCCAAAATAGCAT 0.413000 11 4 0 0 1 0 0 EYS 346007 broad.mit.edu 37 6 66053984 66053984 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr6:66053984C>T uc011dxu.1 - 9 2084 c.1546G>A c.(1546-1548)Gat>Aat p.D516N EYS_uc003peq.3_Missense_Mutation_p.D516N|EYS_uc003per.1_Missense_Mutation_p.D516N|EYS_uc021zbn.1_Missense_Mutation_p.D516N NM_001142800 NP_001136272 Q5T1H1 EYS_HUMAN Homo sapiens eyes shut homolog (Drosophila) (EYS), transcript variant 1, mRNA. 516 response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 TCTTCAGGATCGTTCACATAG 0.373000 31 26 0 0 1 0 0 NDNF 79625 broad.mit.edu 37 4 121958627 121958627 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr4:121958627G>A uc003idq.1 - 3 1026 c.499C>T c.(499-501)Cca>Tca p.P167S NM_024574 NP_078850 Q8TB73 CD031_HUMAN Homo sapiens neuron-derived neurotrophic factor (NDNF), mRNA. 167 breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1) 29 TCAGATTCTGGAGTTGTGGTG 0.463000 82 29 0 0 1 0 0 PARD3B 117583 broad.mit.edu 37 2 206166306 206166306 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr2:206166306G>A uc002var.2 + 17 2718 c.2511G>A c.(2509-2511)acG>acA p.T837T PARD3B_uc010fub.2_Silent_p.T837T|PARD3B_uc002vao.2_Silent_p.T837T|PARD3B_uc002vap.2_Silent_p.T775T|PARD3B_uc002vaq.2_Silent_p.T768T NM_205863 NP_689739 Q8TEW8 PAR3L_HUMAN Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA. 837 Lys-rich. cell cycle|cell division endomembrane system|tight junction breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) TCAAAAAAACgaaagagaagg 0.433000 57 13 0 0 1 0 0 CYP2D7P1 1564 broad.mit.edu 37 22 42537686 42537686 + Splice_Site SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr22:42537686C>T uc003bci.3 - 6 955 c.574_splice c.e6-1 p.A192_splice CYP2D7P1_uc003bcg.3_Splice_Site|CYP2D7P1_uc010gyv.3_Intron|CYP2D7P1_uc010gyw.3_Splice_Site|CYP2D7P1_uc021wqk.1_Splice_Site|CYP2D7P1_uc010gyx.1_Intron Homo sapiens cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1 (CYP2D7P1), non-coding RNA. endometrium(1) 1 TCCCCTTGGCCTGAGCAGGGC 0.602000 38 5 0 0 1 0 0 PCDH20 64881 broad.mit.edu 37 13 61987197 61987197 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr13:61987197C>T uc001vid.4 - 1 1399 c.1035G>A c.(1033-1035)gtG>gtA p.V345V PCDH20_uc010thj.2_Silent_p.V345V NM_022843 NP_073754 Q8N6Y1 PCD20_HUMAN Homo sapiens protocadherin 20 (PCDH20), mRNA. 318 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 58 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) AGTCTTTATCCACAGCCTGGA 0.428000 75 8 0 0 1 0 0 KIRREL 55243 broad.mit.edu 37 1 158063187 158063187 + Silent SNP C A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:158063187C>A uc001frn.4 + 11 1934 c.1530C>A c.(1528-1530)atC>atA p.I510I KIRREL_uc010pib.2_Silent_p.I410I|KIRREL_uc009wsq.3_Silent_p.I346I|KIRREL_uc001fro.4_Silent_p.I324I NM_018240 NP_060710 Q96J84 KIRR1_HUMAN Homo sapiens kin of IRRE like (Drosophila) (KIRREL), mRNA. 510 integral to membrane NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1) 38 all_hematologic(112;0.0378) TCCTGCTCATCTTCTTCTTCA 0.597000 133 4 0.014758 0.0148264 1 1 0 PKHD1 5314 broad.mit.edu 37 6 51889700 51889700 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr6:51889700C>T uc003pah.1 - 31 5184 c.4908G>A c.(4906-4908)ctG>ctA p.L1636L PKHD1_uc003pai.3_Silent_p.L1636L NM_138694 NP_619639 P08F94 PKHD1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA. 1636 IPT/TIG 11. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) CCTCTATTTCCAGGGCAACAG 0.483000 72 33 0 0 1 0 0 GCC2 9648 broad.mit.edu 37 2 109088547 109088547 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr2:109088547G>A uc002tec.3 + 5 2916 c.2762G>A c.(2761-2763)aGg>aAg p.R921K GCC2_uc002ted.3_Missense_Mutation_p.R820K NM_181453 NP_852118 Q8IWJ2 GCC2_HUMAN Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA. 921 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 TTACGAGATAGGAGAGCAGAG 0.274000 53 11 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 30934665 30934665 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr19:30934665G>A uc002nsu.1 + 1 334 c.196G>A c.(196-198)Gag>Aag p.E66K ZNF536_uc010edd.1_Missense_Mutation_p.E66K NM_014717 NP_055532 O15090 ZN536_HUMAN Homo sapiens zinc finger protein 536 (ZNF536), mRNA. 66 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) ATCCCTGGAGGAGAAGGCCCA 0.682000 86 15 0 0 1 0 0 AMDHD1 144193 broad.mit.edu 37 12 96356164 96356164 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr12:96356164G>A uc001tel.2 + 5 951 c.845G>A c.(844-846)aGc>aAc p.S282N AMDHD1_uc009zth.2_Missense_Mutation_p.S173N NM_152435 NP_689648 Q96NU7 HUTI_HUMAN Homo sapiens amidohydrolase domain containing 1 (AMDHD1), mRNA. 282 histidine catabolic process to glutamate and formamide cytosol imidazolonepropionase activity|metal ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1) 22 CAGGCAATCAGCCACCTGGAA 0.512000 34 5 0 0 1 0 0 PDS5A 23244 broad.mit.edu 37 4 39929628 39929628 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr4:39929628G>A uc003guv.4 - 2 835 c.295C>T c.(295-297)Cgt>Tgt p.R99C PDS5A_uc003guw.4_Missense_Mutation_p.R99C NM_001100399 NP_001093869 Q29RF7 PDS5A_HUMAN Homo sapiens PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) (PDS5A), transcript variant 1, mRNA. 99 cell division|mitosis|negative regulation of DNA replication chromatin|nucleus identical protein binding breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1) 39 GCATAGATACGAAAGATATCA 0.398000 36 13 0 0 1 0 0 GPX1 2876 broad.mit.edu 37 3 49395482 49395482 + Missense_Mutation SNP G C C TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr3:49395482G>C uc021wxw.1 - 0 310 c.230C>G c.(229-231)cCg>cGg p.P77R GPX1_uc021wxx.1_Missense_Mutation_p.P77R NM_000581 NP_000572 P07203 GPX1_HUMAN Homo sapiens glutathione peroxidase 1 (GPX1), transcript variant 1, mRNA. 77 UV protection|anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion cytosol|mitochondrion SH3 domain binding|endopeptidase inhibitor activity|glutathione peroxidase activity breast(1)|large_intestine(2)|lung(1) 4 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Glutathione(DB00143) CTGGTTGCACGGGAAGCCGAG 0.726000 30 3 0 0 1 0 0 TLX3 30012 broad.mit.edu 37 5 170736487 170736487 + Missense_Mutation SNP G T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr5:170736487G>T uc003mbf.3 + 0 200 c.118G>T c.(118-120)Ggc>Tgc p.G40C AX746723_uc003mbe.1_5'Flank NM_021025 NP_066305 O43711 TLX3_HUMAN Homo sapiens T-cell leukemia homeobox 3 (TLX3), mRNA. 40 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GGGCCCCGACGGCGCCAGCTA 0.756000 T BCL11B T-ALL 9 4 1.23904e-05 1.26037e-05 1 1 0 SURF6 6838 broad.mit.edu 37 9 136200572 136200572 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr9:136200572G>A uc004cdb.4 - 2 453 c.375C>T c.(373-375)atC>atT p.I125I NM_006753 NP_006744 O75683 SURF6_HUMAN Homo sapiens surfeit 6 (SURF6), mRNA. 125 granular component DNA binding|RNA binding endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 12 OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05) GGGCCTCCTGGATCTTCTCAT 0.637000 21 4 0 0 1 0 0 MUC20 200958 broad.mit.edu 37 3 195447909 195447909 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr3:195447909C>T uc010hzo.3 + 0 157 c.31C>T c.(31-33)Ctt>Ttt p.L11F NM_152673 NP_689886 Q8N307 MUC20_HUMAN Homo sapiens mucin 20, cell surface associated (MUC20), transcript variant L, mRNA. 11 protein homooligomerization apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1) 23 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) GGCTCTGCCCCTTTTCTTCTT 0.617000 10 3 0 0 1 0 0 MICAL3 57553 broad.mit.edu 37 22 18382265 18382265 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr22:18382265G>A uc002zng.4 - 6 1250 c.897C>T c.(895-897)ttC>ttT p.F299F MICAL3_uc011agl.2_Silent_p.F299F|MICAL3_uc002znh.2_Silent_p.F299F|MICAL3_uc002znj.1_5'UTR|MICAL3_uc002znk.1_Silent_p.F299F|MICAL3_uc002znl.1_Intron|MICAL3_uc010grf.3_Silent_p.F299F|MICAL3_uc011agm.1_Silent_p.F299F NM_015241 NP_056056 Q7RTP6 MICA3_HUMAN Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA. 299 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) CTGTCATAACGAAATAGTGTG 0.413000 11 6 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50734115 50734115 + Nonsense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr18:50734115C>T uc002lfe.2 + 10 2405 c.1789C>T c.(1789-1791)Cga>Tga p.R597* DCC_uc010xdr.1_Nonsense_Mutation_p.R445*|DCC_uc010dpf.2_Nonsense_Mutation_p.R252* NM_005215 NP_005206 P43146 DCC_HUMAN Homo sapiens deleted in colorectal carcinoma (DCC), mRNA. 597 Fibronectin type-III 2. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane p.R597Q(1) 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) ATATAGTCTTCGATTCTTAGC 0.373000 54 17 0 0 1 0 0 PDIA2 64714 broad.mit.edu 37 16 335627 335627 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr16:335627C>T uc002cgn.1 + 11 2151 c.1043C>T c.(1042-1044)gCg>gTg p.A348V LUC7L_uc021szo.1_Intron|PDIA2_uc002cgo.1_Missense_Mutation_p.A348V|PDIA2_uc010bqt.1_Missense_Mutation_p.A193V NM_006849 NP_006840 Q13087 PDIA2_HUMAN Homo sapiens protein disulfide isomerase family A, member 2 (PDIA2), mRNA. 348 apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia endoplasmic reticulum lumen electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding p.A348E(2) breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 17 all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186) AAGAAGTATGCGCCTGTGGAT 0.582000 50 3 0 0 1 0 0 IL3 3562 broad.mit.edu 37 5 131396680 131396680 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr5:131396680G>A uc003kwe.1 + 1 236 c.183G>A c.(181-183)ggG>ggA p.G61G NM_000588 NP_000579 P08700 IL3_HUMAN Homo sapiens interleukin 3 (colony-stimulating factor, multiple) (IL3), mRNA. 61 cell-cell signaling|immune response|nervous system development|positive regulation of DNA replication|positive regulation of cell proliferation|positive regulation of survival gene product expression|positive regulation of tyrosine phosphorylation of Stat5 protein extracellular space cytokine activity|growth factor activity|interleukin-3 receptor binding central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2) 10 all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105) Amlexanox(DB01025) ACCTCAATGGGGAAGACCAAG 0.557000 35 10 0 0 1 0 0 USP54 159195 broad.mit.edu 37 10 75277247 75277247 + Silent SNP C A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr10:75277247C>A uc001juo.3 - 17 2954 c.2937G>T c.(2935-2937)ggG>ggT p.G979G USP54_uc010qkk.2_Silent_p.G161G|USP54_uc001juk.3_Silent_p.G67G|USP54_uc001jul.3_Silent_p.G67G|USP54_uc001jum.3_Non-coding_Transcript|USP54_uc001jun.3_Non-coding_Transcript NM_152586 NP_689799 Q70EL1 UBP54_HUMAN Homo sapiens ubiquitin specific peptidase 54 (USP54), mRNA. 979 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 30 Prostate(51;0.0112) TCTCAGTCCACCCTGGTGCTT 0.512000 37 3 0.115264 0.115442 1 1 0 CASC5 57082 broad.mit.edu 37 15 40914789 40914789 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr15:40914789C>T uc010bbs.1 + 10 2566 c.2405C>T c.(2404-2406)cCt>cTt p.P802L CASC5_uc010ucq.1_Missense_Mutation_p.P626L|CASC5_uc001zme.3_Missense_Mutation_p.P776L|CASC5_uc010bbt.1_Missense_Mutation_p.P776L NM_170589 NP_733468 Q8NG31 CASC5_HUMAN Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA. 802 CenH3-containing nucleosome assembly at centromere|acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) GGATTTGGTCCTTCTGAACTA 0.388000 39 7 0 0 1 0 0 CC2D1A 54862 broad.mit.edu 37 19 14037523 14037524 + Missense_Mutation DNP CC TA TA TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr19:14037523_14037524CC>TA uc002mxo.2 + 18 2357_2358 c.2058_2059CC>TA c.(2056-2061)ttcccc>ttTAcc p.P687T CC2D1A_uc002mxp.2_Missense_Mutation_p.P687T|CC2D1A_uc010dzh.2_Missense_Mutation_p.P256T|CC2D1A_uc002mxq.1_Missense_Mutation_p.P332T NM_017721 NP_060191 Q6P1N0 C2D1A_HUMAN Homo sapiens coiled-coil and C2 domain containing 1A (CC2D1A), mRNA. 687 C2. positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|plasma membrane DNA binding|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 27 OV - Ovarian serous cystadenocarcinoma(19;3.49e-23) GGTTTGACTTCCCCTATCCCAA 0.624000 130 24 0 0 1 0 0 TCF20 6942 broad.mit.edu 37 22 42607377 42607378 + Missense_Mutation DNP GG AA AA TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr22:42607377_42607378GG>AA uc003bcj.1 - 0 4068_4069 c.3934_3935CC>TT c.(3934-3936)cct>TTt p.P1312F TCF20_uc003bck.1_Missense_Mutation_p.P1312F NM_005650 NP_005641 Q9UGU0 TCF20_HUMAN Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA. 1312 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 ATCTCTCTTAGGGATAGACTTG 0.470000 181 29 0 0 1 0 0 TMPRSS7 344805 broad.mit.edu 37 3 111785270 111785270 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr3:111785270C>T uc010hqb.2 + 10 1379 c.1209C>T c.(1207-1209)tcC>tcT p.S403S TMPRSS7_uc011bhr.1_Silent_p.S258S NM_001042575 NP_001036040 Q7RTY8 TMPS7_HUMAN Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA. 529 CUB 2. proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 ATACCAGCTCCTTCAGGCAGC 0.507000 97 36 0 0 1 0 0 LTA 4049 broad.mit.edu 37 6 31541284 31541284 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr6:31541284C>T uc011dnu.1 + 3 645 c.432C>T c.(430-432)ttC>ttT p.F144F LTA_uc003nue.1_Silent_p.F144F|LTA_uc003nuf.3_Intron|LTA_uc003nuh.3_Intron|LTA_uc003nug.3_Intron|LTA_uc010jsr.3_Intron|TNF_uc003nui.3_5'Flank NM_001159740 NP_001153212 P01374 TNFB_HUMAN Homo sapiens lymphotoxin alpha (TNF superfamily, member 1) (LTA), transcript variant 1, mRNA. 144 cell-cell signaling|induction of apoptosis|signal transduction extracellular space|membrane cytokine activity|tumor necrosis factor receptor binding p.P143A(1) endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1) 9 Etanercept(DB00005) AGTACCCCTTCCATGTGCCTC 0.617000 120 55 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140263791 140263791 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr5:140263791C>T uc003lif.2 + 0 1938 c.1938C>T c.(1936-1938)cgC>cgT p.R646R PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Silent_p.R646R|PCDHAC2_uc003lid.3_Silent_p.R646R NM_018904 NP_061727 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA. 657 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCACCACCGCCTTCTGGTGC 0.706000 63 12 0 0 1 0 0 GPR123 84435 broad.mit.edu 37 10 134906683 134906683 + Missense_Mutation SNP A T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr10:134906683A>T uc001llw.3 + 9 1954 c.1954A>T c.(1954-1956)Agg>Tgg p.R652W GPR123_uc001llx.4_Intron Q86SQ6 GP123_HUMAN Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA. 213 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3) 14 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) CCTCACCCGCAGGGAGGAAGA 0.557000 5 3 0 0 1 0 0 ODF4 146852 broad.mit.edu 37 17 8243540 8243540 + Silent SNP C A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr17:8243540C>A uc002gle.1 + 0 353 c.171C>A c.(169-171)tcC>tcA p.S57S NM_153007 NP_694552 Q2M2E3 ODFP4_HUMAN Homo sapiens outer dense fiber of sperm tails 4 (ODF4), mRNA. 57 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1) 8 GTAACAGGTCCTTGGGCCAGC 0.592000 34 8 0.000274275 0.000277693 1 1 0 SH2D3C 10044 broad.mit.edu 37 9 130509465 130509465 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr9:130509465G>A uc004bsc.3 - 5 1367 c.1225C>T c.(1225-1227)Ccc>Tcc p.P409S SH2D3C_uc010mxo.3_Missense_Mutation_p.P249S|SH2D3C_uc004bry.3_Missense_Mutation_p.P251S|SH2D3C_uc004brz.4_Missense_Mutation_p.P55S|SH2D3C_uc011mak.2_Missense_Mutation_p.P55S|SH2D3C_uc004bsb.3_Missense_Mutation_p.P341S|SH2D3C_uc004bsa.3_Missense_Mutation_p.P252S NM_170600 NP_733745 Q8N5H7 SH2D3_HUMAN Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA. 409 JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 TCGGAGATGGGCGACATGGGT 0.622000 54 13 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179643732 179643732 + Missense_Mutation SNP T G G TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr2:179643732T>G uc021vsy.1 - 23 4302 c.4077A>C c.(4075-4077)gaA>gaC p.E1359D TTN_uc021vsz.1_Missense_Mutation_p.E1313D|TTN_uc021vta.1_Missense_Mutation_p.E1313D|TTN_uc021vtb.1_Missense_Mutation_p.E1313D|TTN_uc002unb.2_Missense_Mutation_p.E1359D|AK123298_uc002unc.1_Intron NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 1359 Ig-like 5. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.L1359>?(1) 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) TGTAGATTCCTTCATCTTCTG 0.438000 43 5 0 0 1 0 0 MUM1 84939 broad.mit.edu 37 19 1360163 1360163 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr19:1360163C>T uc002lrz.2 + 4 356 c.246C>T c.(244-246)ccC>ccT p.P82P MUM1_uc010dsi.2_Silent_p.P13P|MUM1_uc002lsb.2_Silent_p.P13P|MUM1_uc010xgm.1_Silent_p.P81P|MUM1_uc002lsc.1_Silent_p.P13P NM_032853 NP_116242 Q2TAK8 MUM1_HUMAN Homo sapiens melanoma associated antigen (mutated) 1 (MUM1), transcript variant 1, mRNA. 81 DNA repair|chromatin organization nucleus nucleosome binding|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTGCGGCACCCCTGGAAGAAC 0.577000 OREG0025088 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 49 4 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18023102 18023102 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr17:18023102G>A uc021trm.1 + 0 1207 c.988G>A c.(988-990)Gat>Aat p.D330N MYO15A_uc021trl.1_Missense_Mutation_p.D330N NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN Homo sapiens myosin XVA (MYO15A), mRNA. 330 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium ATP binding|actin binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) CAGCTACCACGATGGGTACGA 0.612000 41 46 0 0 1 0 0 DSG3 1830 broad.mit.edu 37 18 29054139 29054139 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr18:29054139G>A uc002kws.3 + 14 2266 c.2157G>A c.(2155-2157)atG>atA p.M719I DSG3_uc002kwt.3_Missense_Mutation_p.M1I NM_001944 NP_001935 P32926 DSG3_HUMAN Homo sapiens desmoglein 3 (DSG3), mRNA. 719 cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CTTCAGGAATGGAAATGACCA 0.478000 57 16 0 0 1 0 0 SEL1L3 23231 broad.mit.edu 37 4 25835099 25835099 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr4:25835099C>T uc003gru.4 - 3 1105 c.953G>A c.(952-954)gGc>gAc p.G318D NM_015187 NP_056002 Q68CR1 SE1L3_HUMAN Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA. 318 integral to membrane binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2) 14 AGAAGGTGTGCCGTACATCTC 0.368000 40 5 0 0 1 0 0 DNTTIP1 116092 broad.mit.edu 37 20 44439731 44439731 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr20:44439731C>T uc002xpk.3 + 12 955 c.887C>T c.(886-888)tCc>tTc p.S296F UBE2C_uc002xpl.3_5'Flank|UBE2C_uc002xpm.3_5'Flank|UBE2C_uc002xpn.3_5'Flank|UBE2C_uc002xpo.3_5'Flank|UBE2C_uc002xpp.3_5'Flank|UBE2C_uc002xpq.3_5'Flank NM_052951 NP_443183 Q9H147 TDIF1_HUMAN Homo sapiens deoxynucleotidyltransferase, terminal, interacting protein 1 (DNTTIP1), mRNA. 296 nucleus breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1) 9 Myeloproliferative disorder(115;0.0122) GAATTGAAATCCTTTGTCCTA 0.498000 147 21 0 0 1 0 0 PGLS 25796 broad.mit.edu 37 19 17628188 17628188 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr19:17628188C>T uc002ngw.3 + 2 538 c.488C>T c.(487-489)cCc>cTc p.P163L NM_012088 NP_036220 O95336 6PGL_HUMAN Homo sapiens 6-phosphogluconolactonase (PGLS), mRNA. 163 cytosol 6-phosphogluconolactonase activity endometrium(1)|lung(1) 2 CCAGACCACCCCCTCCTACAG 0.637000 114 30 0 0 1 0 0 KCNT2 343450 broad.mit.edu 37 1 196295881 196295881 + Nonsense_Mutation SNP C A A rs149408068 TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:196295881C>A uc001gtd.1 - 18 2302 c.2242G>T c.(2242-2244)Gaa>Taa p.E748* KCNT2_uc009wyt.1_Intron|KCNT2_uc001gte.1_Nonsense_Mutation_p.E698*|KCNT2_uc001gtf.1_Nonsense_Mutation_p.E748*|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Nonsense_Mutation_p.E748*|KCNT2_uc001gth.1_Nonsense_Mutation_p.E269* NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA. 748 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 GGATTAAGTTCTTTCTTTGGT 0.289000 42 7 1.12685e-05 1.14805e-05 1 1 0 TRPC1 7220 broad.mit.edu 37 3 142511691 142511691 + Missense_Mutation SNP A T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr3:142511691A>T uc003evc.3 + 8 1599 c.1463A>T c.(1462-1464)gAt>gTt p.D488V TRPC1_uc003evb.3_Missense_Mutation_p.D454V|TRPC1_uc011bni.1_Intron NM_001251845 NP_001238774 P48995 TRPC1_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 1 (TRPC1), transcript variant 1, mRNA. 488 axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion cytosol|integral to plasma membrane protein binding|store-operated calcium channel activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1) 37 GATCGGAAGGATTGGGATGCA 0.368000 49 20 0 0 1 0 0 HIST1H2AA 221613 broad.mit.edu 37 6 25726741 25726741 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr6:25726741C>T uc003nfc.3 - 0 50 c.15G>A c.(13-15)ggG>ggA p.G5G HIST1H2BA_uc003nfd.3_5'Flank NM_170745 NP_734466 Q96QV6 H2A1A_HUMAN Homo sapiens histone cluster 1, H2aa (HIST1H2AA), mRNA. 5 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|endometrium(2)|large_intestine(2)|lung(8) 13 CTCCCTGCTTCCCTCGTCCAG 0.522000 111 24 0 0 1 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84506853 84506853 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr15:84506853G>A uc002bjz.4 + 6 837 c.613G>A c.(613-615)Gat>Aat p.D205N ADAMTSL3_uc002bjy.1_Missense_Mutation_p.D205N|ADAMTSL3_uc010bmt.1_Missense_Mutation_p.D205N NM_207517 NP_997400 P82987 ATL3_HUMAN Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA. 205 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) AGTGGGCTGCGATCGGCAACT 0.562000 43 15 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 69002832 69002832 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr8:69002832C>T uc003xxv.1 + 19 2159 c.2132C>T c.(2131-2133)gCt>gTt p.A711V PREX2_uc003xxu.1_Missense_Mutation_p.A711V|PREX2_uc011lez.1_Missense_Mutation_p.A646V NM_024870 NP_079146 Q70Z35 PREX2_HUMAN Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA. 711 PDZ 2. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 GCTGCAGCAGCTGGTCTTCAC 0.393000 57 7 0 0 1 0 0 DCAF12L1 139170 broad.mit.edu 37 X 125686565 125686565 + Missense_Mutation SNP C G G TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chrX:125686565C>G uc022cds.1 - 0 27 c.27G>C c.(25-27)agG>agC p.R9S DCAF12L1_uc004eul.3_Missense_Mutation_p.R9S NM_178470 NP_848565 Q5VU92 DC121_HUMAN Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA. 9 breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 CTTTCCGTTTCCTGCTACCTG 0.721000 31 14 0 0 1 0 0 FGF8 2253 broad.mit.edu 37 10 103530212 103530212 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr10:103530212G>A uc001ktp.2 - 5 678 c.576C>T c.(574-576)ttC>ttT p.F192F FGF8_uc001kts.2_Silent_p.F163F|FGF8_uc009xwr.2_Silent_p.F99F|FGF8_uc001ktq.2_Silent_p.F203F|FGF8_uc001ktr.2_Silent_p.F174F|FGF8_uc021pxg.1_Silent_p.F99F NM_033164 NP_001193318 P55075 FGF8_HUMAN Homo sapiens fibroblast growth factor 8 (androgen-induced) (FGF8), transcript variant E, mRNA. 192 bone development|dopaminergic neuron differentiation|fibroblast growth factor receptor signaling pathway|gastrulation|gonad development|insulin receptor signaling pathway|mesonephros development|metanephros development|negative regulation of cardiac muscle tissue development|neuroepithelial cell differentiation|odontogenesis|positive regulation of cell division|positive regulation of cell proliferation extracellular region|extracellular space growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(2) 5 Colorectal(252;0.122) Epithelial(162;3.94e-09)|all cancers(201;2.13e-07) GCCGCTTCATGAAGTGGACCT 0.672000 13 6 0 0 1 0 0 PTPRA 5786 broad.mit.edu 37 20 2998506 2998506 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr20:2998506G>A uc010zqd.2 + 11 1338 c.1021G>A c.(1021-1023)Gaa>Aaa p.E341K PTPRA_uc002whj.3_Missense_Mutation_p.E330K|PTPRA_uc002whk.3_Missense_Mutation_p.E321K|PTPRA_uc002whl.3_Missense_Mutation_p.E321K|PTPRA_uc002whm.3_Missense_Mutation_p.E97K|PTPRA_uc002whn.3_Missense_Mutation_p.E321K|PTPRA_uc002who.3_5'UTR NM_002836 NP_002827 P18433 PTPRA_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, A (PTPRA), transcript variant 1, mRNA. 330 Tyrosine-protein phosphatase 1. axon guidance|protein phosphorylation integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 GATGATCTGGGAACAAAACAC 0.428000 51 13 0 0 1 0 0 OAS3 4940 broad.mit.edu 37 12 113403550 113403550 + Splice_Site SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr12:113403550G>A uc001tug.3 + 12 2491 c.2404_splice c.e12-1 p.G802_splice NM_006187 NP_006178 Q9Y6K5 OAS3_HUMAN Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA. 802 OAS domain 3. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway microsome ATP binding|RNA binding|nucleotidyltransferase activity breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2) 27 CCTCTCCAGGGTGGCTCTTCA 0.567000 6 5 0 0 1 0 0 CHRNB3 1142 broad.mit.edu 37 8 42587504 42587504 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr8:42587504C>T uc003xpi.1 + 4 1182 c.1054C>T c.(1054-1056)Cat>Tat p.H352Y NM_000749 NP_000740 Q05901 ACHB3_HUMAN Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA. 352 synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 25 all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869) CATGAAAGATCATGTGGATCG 0.453000 78 17 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144940370 144940370 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr8:144940370G>A uc003zaa.1 - 0 7065 c.7052C>T c.(7051-7053)cCc>cTc p.P2351L NM_031308 NP_112598 P58107 EPIPL_HUMAN Homo sapiens epiplakin 1 (EPPK1), mRNA. 2351 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GCTGTGCACGGGGTCGATGAC 0.687000 699 8 0 0 1 0 0 TAOK1 57551 broad.mit.edu 37 17 27837968 27837968 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr17:27837968C>T uc002hdz.2 + 14 1856 c.1662C>T c.(1660-1662)tcC>tcT p.S554S TAOK1_uc010wbe.2_Silent_p.S554S|TAOK1_uc002heb.1_Silent_p.S380S NM_020791 NP_065842 Q7L7X3 TAOK1_HUMAN Homo sapiens TAO kinase 1 (TAOK1), transcript variant 1, mRNA. 554 mitotic prometaphase cytosol|intracellular membrane-bounded organelle ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 Colorectal(6;0.198) TTCTCGAGTCCCAGAAAAGAG 0.333000 44 53 0 0 1 0 0 BCOR 54880 broad.mit.edu 37 X 39933022 39933022 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chrX:39933022G>A uc004den.4 - 3 1869 c.1577C>T c.(1576-1578)tCg>tTg p.S526L BCOR_uc004dep.4_Missense_Mutation_p.S526L|BCOR_uc004deo.4_Missense_Mutation_p.S526L|BCOR_uc004dem.4_Missense_Mutation_p.S526L|BCOR_uc004deq.4_Missense_Mutation_p.S526L NM_001123385 NP_001116857 Q6W2J9 BCOR_HUMAN Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA. 526 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding p.M525I(1) breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 GTTTTTCAGCGACATGCTTTT 0.537000 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 21 21 0 0 1 0 0 PLEKHG4 25894 broad.mit.edu 37 16 67321007 67321007 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr16:67321007C>T uc010cef.3 + 17 3329 c.3030C>T c.(3028-3030)tcC>tcT p.S1010S PLEKHG4_uc002eso.4_Silent_p.S1010S|PLEKHG4_uc002esp.4_Silent_p.S817S|PLEKHG4_uc002esq.4_Silent_p.S1010S|PLEKHG4_uc002ess.4_Silent_p.S1010S|PLEKHG4_uc010ceg.3_Silent_p.S929S NM_001129728 NP_056247 Q58EX7 PKHG4_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4 (PLEKHG4), transcript variant 3, mRNA. 1010 PH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119) TGCAGGCCTCCAGCCTGGCTA 0.622000 42 10 0 0 1 0 0 TSNARE1 203062 broad.mit.edu 37 8 143365802 143365802 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr8:143365802G>A uc003ywj.3 - 9 1377 c.1338C>T c.(1336-1338)tcC>tcT p.S446S TSNARE1_uc011lju.2_Silent_p.S444S|TSNARE1_uc003ywk.3_Silent_p.S445S|TSNARE1_uc003ywl.4_Silent_p.S226S NM_145003 NP_659440 Q96NA8 TSNA1_HUMAN Homo sapiens t-SNARE domain containing 1 (TSNARE1), mRNA. 445 t-SNARE coiled-coil homology. vesicle-mediated transport integral to membrane breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1) 20 all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CTGACACCATGGAGGCCAAGT 0.617000 62 10 0 0 1 0 0 ANKRD17 26057 broad.mit.edu 37 4 74124036 74124036 + Missense_Mutation SNP T C C TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr4:74124036T>C uc003hgp.3 - 0 467 c.350A>G c.(349-351)gAg>gGg p.E117G ANKRD17_uc003hgq.3_Missense_Mutation_p.E117G|ANKRD17_uc003hgr.3_Missense_Mutation_p.E117G NM_032217 NP_115593 O75179 ANR17_HUMAN Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA. 117 interspecies interaction between organisms cytoplasm|nucleus RNA binding NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CTCTTCTTCCTCGCTGTTGTT 0.642000 148 6 0 0 1 0 0 TPO 7173 broad.mit.edu 37 2 1488424 1488424 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr2:1488424G>A uc002qwr.3 + 8 1481 c.1395G>A c.(1393-1395)caG>caA p.Q465Q TPO_uc010ewj.3_Non-coding_Transcript|TPO_uc002qww.3_Silent_p.Q465Q|TPO_uc002qwx.3_Silent_p.Q465Q|TPO_uc002qwu.3_Silent_p.Q465Q|TPO_uc010yio.2_Silent_p.Q292Q|TPO_uc010yip.2_Silent_p.Q465Q|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.3_Non-coding_Transcript NM_001206744 NP_001193673 P07202 PERT_HUMAN Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA. 465 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) CCTTCCAGCAGTACGTGGGTC 0.587000 28 5 0 0 1 0 0 GATA2 2624 broad.mit.edu 37 3 128199961 128199961 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr3:128199961G>A uc003ekm.3 - 6 1779 c.1344C>T c.(1342-1344)caC>caT p.H448H GATA2_uc003ekn.3_Silent_p.H434H|GATA2_uc003eko.2_Silent_p.H448H NM_001145661 NP_116027 P23769 GATA2_HUMAN Homo sapiens GATA binding protein 2 (GATA2), transcript variant 1, mRNA. 448 blood coagulation|negative regulation of Notch signaling pathway|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter nucleoplasm C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1) 79 GBM - Glioblastoma multiforme(114;0.173) TGTGTCCGGAGTGGCTGAAGG 0.657000 Mis AML(CML blast transformation) 68 60 0 0 1 0 0 ZNF408 79797 broad.mit.edu 37 11 46726603 46726603 + Silent SNP C A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr11:46726603C>A uc001nde.2 + 4 1634 c.1353C>A c.(1351-1353)tcC>tcA p.S451S ZNF408_uc010rgw.2_Silent_p.S443S NM_024741 NP_079017 Q9H9D4 ZN408_HUMAN Homo sapiens zinc finger protein 408 (ZNF408), transcript variant 1, mRNA. 451 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GCCGGCCCTCCCTGCGGCTGC 0.677000 70 19 1.9806e-07 2.03058e-07 1 1 0 TLN2 83660 broad.mit.edu 37 15 62989953 62989953 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr15:62989953G>A uc002alb.4 + 11 1359 c.1359G>A c.(1357-1359)ccG>ccA p.P453P NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN Homo sapiens talin 2 (TLN2), mRNA. 453 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 TGGCGCTGCCGGCCGTGATGC 0.642000 80 38 0 0 1 0 0 ZNF470 388566 broad.mit.edu 37 19 57088123 57088123 + Missense_Mutation SNP A G G TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr19:57088123A>G uc002qnl.4 + 5 1002 c.326A>G c.(325-327)cAg>cGg p.Q109R ZNF470_uc010etn.3_Intron NM_001001668 NP_001001668 Q6ECI4 ZN470_HUMAN Homo sapiens zinc finger protein 470 (ZNF470), mRNA. 109 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 41 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0294) TCTTTAAACCAGGATATTTAT 0.323000 58 4 0 0 1 0 0 CCDC141 285025 broad.mit.edu 37 2 179702087 179702087 + Missense_Mutation SNP A T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr2:179702087A>T uc002une.2 - 22 3977 c.3859T>A c.(3859-3861)Ttt>Att p.F1287I CCDC141_uc002unf.1_Missense_Mutation_p.F766I NM_173648 NP_775919 Q6ZP82 CC141_HUMAN Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA. 712 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) GGCCTCTCAAAATGACTTGAA 0.498000 63 13 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3817765 3817765 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr16:3817765C>T uc002cvv.3 - 15 3410 c.3206G>A c.(3205-3207)gGc>gAc p.G1069D CREBBP_uc002cvw.3_Missense_Mutation_p.G1031D NM_004380 NP_004371 Q92793 CBP_HUMAN Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA. 1069 N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia cytoplasm|nuclear body MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding p.G1069D(2)|p.G1069S(1) NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) AGAGGCTGTGCCGTTACTGCT 0.428000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 106 4 0 0 1 0 0 ESPNP 284729 broad.mit.edu 37 1 17046488 17046488 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:17046488G>A uc001azn.1 - 0 165 c.51C>T c.(49-51)tcC>tcT p.S17S Homo sapiens espin pseudogene (ESPNP), non-coding RNA. GAAGCCTCAGGGAGGGGAAGT 0.617000 109 7 0 0 1 0 0 DEK 7913 broad.mit.edu 37 6 18258628 18258628 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr6:18258628G>A uc003ncr.1 - 2 347 c.154C>T c.(154-156)Ctc>Ttc p.L52F DEK_uc011djf.1_Intron|DEK_uc011djg.1_Non-coding_Transcript NM_003472 NP_003463 P35659 DEK_HUMAN Homo sapiens DEK oncogene (DEK), transcript variant 1, mRNA. 52 chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication nucleus DNA binding|histone binding endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 7 Ovarian(93;0.00769)|Breast(50;0.0495) all_hematologic(90;0.053) OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332) TCCACGATGAGACTCTTTTCT 0.328000 T NUP214 AML 63 24 0 0 1 0 0 PZP 5858 broad.mit.edu 37 12 9321521 9321521 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr12:9321521G>A uc001qvl.3 - 16 2080 c.2051C>T c.(2050-2052)tCg>tTg p.S684L PZP_uc009zgl.3_Missense_Mutation_p.S553L|PZP_uc010sgo.1_5'Flank|PZP_uc009zgm.1_Missense_Mutation_p.S16L NM_002864 NP_002855 Homo sapiens pregnancy-zone protein (PZP), mRNA. breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 GACTGAACACGACTTTGGTTT 0.363000 71 25 0 0 1 0 0 NCOR1 9611 broad.mit.edu 37 17 15965063 15965063 + Nonsense_Mutation SNP C A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr17:15965063C>A uc002gpo.3 - 36 5802 c.5533G>T c.(5533-5535)Gaa>Taa p.E1845* NCOR1_uc002gpn.3_Intron|NCOR1_uc002gpm.3_Nonsense_Mutation_p.E365*|NCOR1_uc010vwb.2_Nonsense_Mutation_p.E429*|NCOR1_uc010coy.3_Nonsense_Mutation_p.E753*|NCOR1_uc010vwc.2_Nonsense_Mutation_p.E655* NM_006311 NP_006302 O75376 NCOR1_HUMAN Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA. 1845 Interaction with C1D (By similarity). cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) CTGGCAGCTTCATGCTTACTC 0.507000 80 23 7.88262e-20 8.21107e-20 1 1 0 CILP 8483 broad.mit.edu 37 15 65490069 65490069 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr15:65490069G>A uc002aon.2 - 8 2736 c.2555C>T c.(2554-2556)cCc>cTc p.P852L NM_003613 NP_003604 O75339 CILP1_HUMAN Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA. 852 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 GTTGAGATAGGGCTGAGGGAC 0.527000 92 19 0 0 1 0 0 CD209 30835 broad.mit.edu 37 19 7811348 7811348 + Missense_Mutation SNP T G G TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr19:7811348T>G uc002mht.2 - 2 243 c.176A>C c.(175-177)cAa>cCa p.Q59P CD209_uc010xju.1_Missense_Mutation_p.Q59P|CD209_uc010dvp.2_Intron|CD209_uc002mhr.2_Intron|CD209_uc002mhs.2_Intron|CD209_uc002mhu.2_Missense_Mutation_p.Q59P|CD209_uc010dvq.2_Missense_Mutation_p.Q59P|CD209_uc002mhq.2_Missense_Mutation_p.Q59P|CD209_uc002mhv.2_Intron|CD209_uc002mhx.2_Intron|CD209_uc002mhw.2_Intron|CD209_uc010dvr.2_Missense_Mutation_p.Q59P NM_021155 NP_066978 Q9NNX6 CD209_HUMAN Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA. 59 cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 CCCCTGACCTTGGACAAGGAG 0.632000 76 15 0 0 1 0 0 PKN3 29941 broad.mit.edu 37 9 131476520 131476520 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr9:131476520G>A uc004bvw.3 + 10 1750 c.1357G>A c.(1357-1359)Gcc>Acc p.A453T PKN3_uc010myh.3_Missense_Mutation_p.A453T|PKN3_uc022bom.1_Non-coding_Transcript NM_013355 NP_037487 Q6P5Z2 PKN3_HUMAN Homo sapiens protein kinase N3 (PKN3), mRNA. 453 signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein binding|protein kinase C activity breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 CGGCATGGCGGCCTGGGGGCG 0.647000 110 26 0 0 1 0 0 TRHDE 29953 broad.mit.edu 37 12 72666940 72666940 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr12:72666940G>A uc001sxa.3 + 0 412 c.382G>A c.(382-384)Gag>Aag p.E128K LOC283392_uc010stv.2_5'UTR|LOC283392_uc021rat.1_5'Flank NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA. 128 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 GCCGTCGGAGGAGGAGCGGGA 0.711000 24 10 0 0 1 0 0 CNTN2 6900 broad.mit.edu 37 1 205035721 205035721 + Missense_Mutation SNP C T T rs2305276 TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:205035721C>T uc001hbr.3 + 14 2238 c.1969C>T c.(1969-1971)Cgg>Tgg p.R657W CNTN2_uc001hbq.1_Missense_Mutation_p.R548W|CNTN2_uc001hbs.3_Missense_Mutation_p.R445W NM_005076 NP_005067 Q02246 CNTN2_HUMAN Homo sapiens contactin 2 (axonal) (CNTN2), mRNA. 657 Fibronectin type-III 1. R -> W (in dbSNP:rs2305276). axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 54 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) GAAGCAGGTTCGGACCAGTAA 0.602000 30 7 0 0 1 0 0 KIAA1468 57614 broad.mit.edu 37 18 59895603 59895603 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr18:59895603C>T uc002lil.3 + 7 1435 c.1220C>T c.(1219-1221)cCt>cTt p.P407L KIAA1468_uc002lik.1_Missense_Mutation_p.P407L|KIAA1468_uc010xel.2_Missense_Mutation_p.P407L|KIAA1468_uc002lim.3_Missense_Mutation_p.P51L NM_020854 NP_065905 Q9P260 K1468_HUMAN Homo sapiens KIAA1468 (KIAA1468), mRNA. 407 binding autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Colorectal(73;0.186) GTTCAGCCTCCTTTGGATCAG 0.423000 101 18 0 0 1 0 0 EPHA5 2044 broad.mit.edu 37 4 66280088 66280088 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr4:66280088G>A uc003hcy.3 - 6 1794 c.1601C>T c.(1600-1602)tCa>tTa p.S534L EPHA5_uc003hcx.3_Missense_Mutation_p.S465L|EPHA5_uc003hcz.3_Missense_Mutation_p.S534L|EPHA5_uc011cah.2_Missense_Mutation_p.S534L|EPHA5_uc011cai.2_Missense_Mutation_p.S534L|EPHA5_uc003hda.2_Missense_Mutation_p.S534L NM_004439 NP_004430 P54756 EPHA5_HUMAN Homo sapiens EPH receptor A5 (EPHA5), transcript variant 1, mRNA. 534 Fibronectin type-III 2. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 GACATAAACTGAAGCTGGTTT 0.423000 TSP Lung(17;0.13) 41 32 0 0 1 0 0 COBLL1 22837 broad.mit.edu 37 2 165586572 165586572 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr2:165586572G>A uc002ucp.3 - 2 506 c.284C>T c.(283-285)cCa>cTa p.P95L COBLL1_uc002ucq.3_Missense_Mutation_p.P95L|COBLL1_uc010zcw.2_Missense_Mutation_p.P148L|COBLL1_uc010zcx.2_Missense_Mutation_p.P141L|COBLL1_uc002ucs.1_Non-coding_Transcript NM_014900 NP_055715 Q53SF7 COBL1_HUMAN Homo sapiens COBL-like 1 (COBLL1), mRNA. 133 central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 47 GTAACTTGATGGATTTAAGTG 0.343000 29 20 0 0 1 0 0 NACC1 112939 broad.mit.edu 37 19 13248977 13248977 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr19:13248977C>T uc002mwm.3 + 5 1509 c.1341C>T c.(1339-1341)ttC>ttT p.F447F NM_052876 NP_443108 Q96RE7 NACC1_HUMAN Homo sapiens nucleus accumbens associated 1, BEN and BTB (POZ) domain containing (NACC1), mRNA. 447 BEN. negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent cytoplasm|nuclear body endometrium(3)|large_intestine(2)|lung(3)|skin(1) 9 GCCAGAACTTCGCCCCCAACT 0.642000 162 4 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38828377 38828377 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr6:38828377C>T uc021yzh.1 + 42 6212 c.6103C>T c.(6103-6105)Cgt>Tgt p.R2035C DNAH8_uc003ooe.2_Missense_Mutation_p.R1818C NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 ATGTACTGATCGTCTTGTTAT 0.289000 15 6 0 0 1 0 0 SAMD9L 219285 broad.mit.edu 37 7 92760770 92760770 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr7:92760770G>A uc003umh.1 - 4 5731 c.4515C>T c.(4513-4515)tcC>tcT p.S1505S SAMD9L_uc003umj.1_Silent_p.S1505S|SAMD9L_uc003umi.1_Silent_p.S1505S|SAMD9L_uc010lfb.1_Silent_p.S1505S|SAMD9L_uc003umk.1_Silent_p.S1505S|SAMD9L_uc010lfc.1_Silent_p.S1505S|SAMD9L_uc010lfd.1_Silent_p.S1505S|SAMD9L_uc022ahh.1_Silent_p.S1505S NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA. 1505 p.S1505F(1) central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) TGTGCCAGAGGGAATTTGTAT 0.423000 80 12 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140187583 140187583 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr5:140187583G>A uc003lhi.2 + 0 912 c.811G>A c.(811-813)Gaa>Aaa p.E271K PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.E271K|PCDHAC2_uc011daa.2_Missense_Mutation_p.E271K NM_018907 NP_061730 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA. 286 Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGATTTAGACGAAGGATTGAA 0.343000 49 11 0 0 1 0 0 SLC22A15 55356 broad.mit.edu 37 1 116609279 116609279 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:116609279C>T uc001egb.4 + 10 1634 c.1504C>T c.(1504-1506)Cgc>Tgc p.R502C NM_018420 NP_060890 Q8IZD6 S22AF_HUMAN Homo sapiens solute carrier family 22, member 15 (SLC22A15), mRNA. 502 ion transport integral to membrane transmembrane transporter activity endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1) 17 Lung SC(450;0.184) all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) GTATTCGTATCGCAGGCTGGG 0.478000 13 3 0 0 1 0 0 GCNT3 9245 broad.mit.edu 37 15 59911080 59911080 + Nonsense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr15:59911080C>T uc002age.3 + 2 1092 c.643C>T c.(643-645)Cag>Tag p.Q215* GCNT3_uc002agd.3_Nonsense_Mutation_p.Q215*|GCNT3_uc021smz.1_Nonsense_Mutation_p.Q215* NM_004751 NP_004742 O95395 GCNT3_HUMAN Homo sapiens glucosaminyl (N-acetyl) transferase 3, mucin type (GCNT3), mRNA. 215 protein O-linked glycosylation Golgi membrane|integral to membrane|membrane fraction N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 AGACTTGCTCCAGAGCTCAGT 0.498000 130 23 0 0 1 0 0 SIRPB1 10326 broad.mit.edu 37 20 1551573 1551573 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr20:1551573G>A uc010gai.3 - 3 1061 c.962C>T c.(961-963)gCc>gTc p.A321V SIRPB1_uc002wfk.4_Intron NM_006065 NP_006056 O00241 SIRB1_HUMAN Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA. 321 Ig-like C1-type 2. cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 GTCCCTGTGGGCACAGGTGTT 0.552000 127 22 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 120959317 120959317 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr3:120959317C>T uc003eec.4 + 13 1503 c.1363C>T c.(1363-1365)Ctt>Ttt p.L455F STXBP5L_uc011bji.2_Missense_Mutation_p.L455F NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA. 455 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) AGCTTGGAACCTTGGAGCACA 0.323000 41 19 0 0 1 0 0 UNC80 285175 broad.mit.edu 37 2 210658513 210658513 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr2:210658513C>T uc010zjc.1 + 6 948 c.868C>T c.(868-870)Cac>Tac p.H290Y UNC80_uc021vvx.1_Missense_Mutation_p.H290Y|UNC80_uc002vdj.1_Missense_Mutation_p.H290Y NM_032504 NP_115893 Q8N2C7 UNC80_HUMAN Homo sapiens unc-80 homolog (C. elegans) (UNC80), transcript variant 1, mRNA. 290 integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1) 20 TTCAGGCTGTCACCGAGGAAA 0.483000 44 30 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138330013 138330013 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr2:138330013G>A uc002tva.1 + 15 3220 c.3220G>A c.(3220-3222)Gat>Aat p.D1074N THSD7B_uc010zbj.1_Intron NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) TGGAGCAGTGGATAGCAACCT 0.433000 23 14 0 0 1 0 0 OVCH1 341350 broad.mit.edu 37 12 29608202 29608202 + Nonsense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr12:29608202C>T uc001rix.1 - 19 2417 c.2417G>A c.(2416-2418)tGg>tAg p.W806* NM_183378 NP_899234 Q7RTY7 OVCH1_HUMAN Homo sapiens ovochymase 1 (OVCH1), mRNA. 806 Peptidase S1 2. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3) 92 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) TGATTGGATCCAGTCCAAGAA 0.418000 51 38 0 0 1 0 0 ZFP161 7541 broad.mit.edu 37 18 5291963 5291963 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr18:5291963G>A uc002kmq.3 - 3 406 c.244C>T c.(244-246)Cgt>Tgt p.R82C ZFP161_uc002kmr.3_Missense_Mutation_p.R82C|ZFP161_uc010dkp.3_Missense_Mutation_p.R82C|ZFP161_uc021ugn.1_Missense_Mutation_p.R82C NM_001243702 NP_001230631 O43829 ZF161_HUMAN Homo sapiens zinc finger protein 161 homolog (mouse) (ZFP161), transcript variant 3, mRNA. 82 BTB. negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R82H(1) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1) 22 ATATCAGAACGAAGAAAATCT 0.373000 53 7 0 0 1 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107459632 107459632 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr2:107459632C>T uc002tdq.3 - 1 921 c.802G>A c.(802-804)Gag>Aag p.E268K ST6GAL2_uc002tdr.3_Missense_Mutation_p.E268K|ST6GAL2_uc002tds.3_Missense_Mutation_p.E268K NM_001142351 NP_115917 Q96JF0 SIAT2_HUMAN Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA. 268 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 AAGGGCGCCTCGGTGCCGTCC 0.766000 5 4 0 0 1 0 0 GEM 2669 broad.mit.edu 37 8 95262811 95262811 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr8:95262811C>T uc003ygi.3 - 4 742 c.618G>A c.(616-618)ggG>ggA p.G206G GEM_uc003ygj.3_Silent_p.G206G NM_181702 NP_859053 P55040 GEM_HUMAN Homo sapiens GTP binding protein overexpressed in skeletal muscle (GEM), transcript variant 2, mRNA. 206 cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction internal side of plasma membrane GDP binding|GTP binding|GTPase activity|calmodulin binding|magnesium ion binding endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 22 Breast(36;4.65e-06) Myeloproliferative disorder(644;0.204) BRCA - Breast invasive adenocarcinoma(8;0.00691) CACAGGCTCTCCCTTCTGGGA 0.532000 20 5 0 0 1 0 0 MDGA2 161357 broad.mit.edu 37 14 47342753 47342753 + Missense_Mutation SNP C G G TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr14:47342753C>G uc001wwj.4 - 13 2793 c.2635G>C c.(2635-2637)Ggc>Cgc p.G879R MDGA2_uc001wwh.4_Missense_Mutation_p.G12R|MDGA2_uc001wwi.4_Missense_Mutation_p.G581R|MDGA2_uc010ani.3_Missense_Mutation_p.G370R NM_001113498 NP_878250 Q7Z553 MDGA2_HUMAN Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA. 810 MAM. spinal cord motor neuron differentiation anchored to membrane|plasma membrane breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 GCCTTTTCGCCTTCCAATCTG 0.368000 82 26 0 0 1 0 0 AGXT2L1 64850 broad.mit.edu 37 4 109674142 109674142 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr4:109674142C>T uc003hzc.3 - 5 708 c.527G>A c.(526-528)gGa>gAa p.G176E AGXT2L1_uc010imc.3_Missense_Mutation_p.G170E|AGXT2L1_uc011cfm.2_Missense_Mutation_p.G136E|AGXT2L1_uc011cfn.2_Missense_Mutation_p.G103E|AGXT2L1_uc011cfo.2_Missense_Mutation_p.G118E NM_031279 NP_112569 Q8TBG4 AT2L1_HUMAN Homo sapiens alanine-glyoxylate aminotransferase 2-like 1 (AGXT2L1), transcript variant 1, mRNA. 176 cellular amino acid metabolic process mitochondrion alanine-glyoxylate transaminase activity|pyridoxal phosphate binding autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(1) 25 OV - Ovarian serous cystadenocarcinoma(123;0.000281) TCTATATTTTCCTCTGTAAGT 0.383000 37 14 0 0 1 0 0 SCN3A 6328 broad.mit.edu 37 2 165987910 165987910 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr2:165987910G>A uc002ucx.3 - 15 2901 c.2409C>T c.(2407-2409)ttC>ttT p.F803F SCN3A_uc002ucy.3_Silent_p.F754F|SCN3A_uc002ucz.3_Silent_p.F754F|SCN3A_uc002uda.1_Silent_p.F623F|SCN3A_uc002udb.1_Silent_p.F623F NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA. 803 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) TTTCTGCTGTGAAAATCCCAG 0.358000 83 12 0 0 1 0 0 LMNB2 84823 broad.mit.edu 37 19 2438167 2438167 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr19:2438167G>A uc002lvy.3 - 3 705 c.618C>T c.(616-618)ttC>ttT p.F206F NM_032737 NP_116126 Q03252 LMNB2_HUMAN Homo sapiens lamin B2 (LMNB2), mRNA. 206 Coil 1B.|Rod. nuclear inner membrane structural molecule activity NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCACCTCCTCGAACACACTCT 0.627000 81 18 0 0 1 0 0 CNR1 1268 broad.mit.edu 37 6 88855056 88855056 + Splice_Site SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr6:88855056C>T uc010kbz.3 - 2 68 c.-62_splice c.e2-1 CNR1_uc011dzr.2_Splice_Site|CNR1_uc011dzs.2_Splice_Site|CNR1_uc003pmq.4_Splice_Site|CNR1_uc011dzt.2_Splice_Site|CNR1_uc010kca.3_Splice_Site|CNR1_uc021zco.1_5'Flank NM_016083 NP_057167 P21554 CNR1_HUMAN Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA. G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1) 37 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) AGGGGGCAATCCTAAGAGGAG 0.433000 25 13 0 0 1 0 0 NMI 9111 broad.mit.edu 37 2 152128175 152128175 + Missense_Mutation SNP A C C TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr2:152128175A>C uc002txi.2 - 6 1036 c.706T>G c.(706-708)Tct>Gct p.S236A NM_004688 NP_004679 Q13287 NMI_HUMAN Homo sapiens N-myc (and STAT) interactor (NMI), mRNA. 236 JAK-STAT cascade|inflammatory response|transcription from RNA polymerase II promoter cytoplasm|nucleus nucleotide binding|protein binding|transcription cofactor activity endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 BRCA - Breast invasive adenocarcinoma(221;0.0571) GTGTATGGAGAAACAGTAACT 0.343000 73 18 0 0 1 0 0 PALMD 54873 broad.mit.edu 37 1 100154714 100154714 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:100154714G>A uc001dsg.3 + 6 1341 c.898G>A c.(898-900)Gaa>Aaa p.E300K NM_017734 NP_060204 Q9NP74 PALMD_HUMAN Homo sapiens palmdelphin (PALMD), mRNA. 300 regulation of cell shape cytoplasm|membrane central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2) 31 all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216) Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201) TGGTGTAAATGAATCCATACA 0.448000 47 11 0 0 1 0 0 NBEAP1 606 broad.mit.edu 37 15 20876534 20876534 + Missense_Mutation SNP C A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr15:20876534C>A uc010tze.1 - 1 286 c.79G>T c.(79-81)Gat>Tat p.D27Y NBEAP1_uc010tzd.2_Non-coding_Transcript Homo sapiens neurobeachin pseudogene 1 (NBEAP1), non-coding RNA. GATAAACCATCAAGGTATTTT 0.353000 52 5 0.014758 0.0148264 1 1 0 AL117485 0 broad.mit.edu 37 22 18844763 18844763 + RNA SNP T C C TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr22:18844763T>C uc002zoe.3 + 3 c.2017T>C AL117485_uc002zof.3_5'Flank Homo sapiens cDNA FLJ76361 complete cds. TCACAGCCTCTGAGGGCAGCA 0.562000 16 3 0 0 1 0 0 IKZF4 64375 broad.mit.edu 37 12 56429091 56429091 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr12:56429091C>T uc001sjb.1 + 8 1893 c.1734C>T c.(1732-1734)gtC>gtT p.V578V IKZF4_uc010sqa.1_Silent_p.V531V|IKZF4_uc001sjc.1_Silent_p.V578V|IKZF4_uc001sjd.1_Silent_p.V476V|IKZF4_uc009zoi.1_Silent_p.V533V|IKZF4_uc001sje.1_Silent_p.V537V NM_022465 NP_071910 Q9H2S9 IKZF4_HUMAN Homo sapiens IKAROS family zinc finger 4 (Eos) (IKZF4), mRNA. 578 negative regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1) 8 UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123) CCCACATTGTCCGGGGGGAGC 0.552000 276 33 0 0 1 0 0 MIOX 55586 broad.mit.edu 37 22 50926457 50926457 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr22:50926457G>A uc003bll.1 + 3 434 c.320G>A c.(319-321)cGg>cAg p.R107Q MIOX_uc003blm.1_Missense_Mutation_p.R107Q|MIOX_uc003bln.1_Missense_Mutation_p.R107Q NM_017584 NP_060054 Q9UGB7 MIOX_HUMAN Homo sapiens myo-inositol oxygenase (MIOX), mRNA. 107 inositol catabolic process cytoplasm|inclusion body aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 13 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GAGGGCATCCGGAAGGCCCAC 0.652000 42 24 0 0 1 0 0 CAPZA3 93661 broad.mit.edu 37 12 18891239 18891239 + Nonsense_Mutation SNP A T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr12:18891239A>T uc001rdy.3 + 0 195 c.37A>T c.(37-39)Aga>Tga p.R13* PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank NM_033328 NP_201585 Q96KX2 CAZA3_HUMAN Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA. 13 actin cytoskeleton organization|actin filament capping F-actin capping protein complex actin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) Hepatocellular(102;0.194) GGACAAGGAAAGAGTAATTCG 0.428000 86 5 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94139701 94139701 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr14:94139701G>A uc001ybv.1 + 39 6376 c.6293G>A c.(6292-6294)cGa>cAa p.R2098Q UNC79_uc001ybs.1_Missense_Mutation_p.R2076Q NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA. 2253 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 CTTTAGGAACGAGATAAATTC 0.368000 36 38 0 0 1 0 0 ATP6V1C1 528 broad.mit.edu 37 8 104054585 104054585 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr8:104054585C>T uc003ykz.4 + 2 395 c.150C>T c.(148-150)gtC>gtT p.V50V ATP6V1C1_uc010mbz.3_5'UTR|ATP6V1C1_uc003yla.3_Silent_p.V50V|ATP6V1C1_uc011lhl.2_Intron NM_001695 NP_001686 P21283 VATC1_HUMAN Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1 (ATP6V1C1), mRNA. 50 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain protein binding|proton-transporting ATPase activity, rotational mechanism breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1) 13 Lung NSC(17;0.000427)|all_lung(17;0.000533) OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133) CGTTGGATGTCTTGGTTGGCT 0.353000 77 40 0 0 1 0 0 TRPM2 7226 broad.mit.edu 37 21 45786783 45786783 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr21:45786783C>T uc010gpt.1 + 3 670 c.570C>T c.(568-570)ttC>ttT p.F190F TRPM2_uc002zet.1_Silent_p.F190F|TRPM2_uc002zeu.1_Silent_p.F190F|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.F190F|TRPM2_uc002zex.1_5'Flank NM_003307 NP_003298 O94759 TRPM2_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA. 190 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 AGAGCATTTTCCGCAGAGGCC 0.642000 19 13 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82583161 82583161 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr7:82583161C>T uc003uhx.2 - 4 7397 c.7108G>A c.(7108-7110)Gaa>Aaa p.E2370K PCLO_uc003uhv.2_Missense_Mutation_p.E2370K|PCLO_uc010lec.3_5'Flank NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 2301 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GCAGGTTTTTCCTGACCAAAG 0.438000 36 4 0 0 1 0 0 VGLL3 389136 broad.mit.edu 37 3 87017853 87017853 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr3:87017853G>A uc003dqn.3 - 2 1188 c.824C>T c.(823-825)cCc>cTc p.P275L NM_016206 NP_057290 A8MV65 VGLL3_HUMAN Homo sapiens vestigial like 3 (Drosophila) (VGLL3), mRNA. 275 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11) 19 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) GTCACACTGGGGAGCAGGAAT 0.562000 31 3 0 0 1 0 0 RNF213 57674 broad.mit.edu 37 17 78321333 78321333 + Silent SNP G A A rs147557959 TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr17:78321333G>A uc002jyh.2 + 29 9488 c.9345G>A c.(9343-9345)ccG>ccA p.P3115P RNF213_uc021uen.1_Silent_p.P3066P NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN SubName: Full=Uncharacterized protein; 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) ACCAGCAGCCGGAGATTATTT 0.512000 36 64 0 0 1 0 0 RERGL 79785 broad.mit.edu 37 12 18234202 18234202 + Nonsense_Mutation SNP T A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr12:18234202T>A uc001rdq.3 - 5 735 c.541A>T c.(541-543)Aag>Tag p.K181* NM_024730 NP_079006 Q9H628 RERGL_HUMAN Homo sapiens RERG/RAS-like (RERGL), mRNA. 181 Small GTPase-like. signal transduction membrane GTP binding|GTPase activity endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 17 GGACGTCTCTTTTCTTTGAGT 0.388000 40 11 0 0 1 0 0 KIF21B 23046 broad.mit.edu 37 1 200967693 200967693 + Silent SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:200967693G>A uc001gvs.2 - 13 2213 c.1896C>T c.(1894-1896)ttC>ttT p.F632F KIF21B_uc009wzl.2_Silent_p.F632F|KIF21B_uc001gvr.2_Silent_p.F632F|KIF21B_uc010ppn.2_Silent_p.F632F NM_001252100 NP_001239029 O75037 KI21B_HUMAN Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA. 632 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 GGTCCGCCTGGAAGTTCACCT 0.612000 43 24 0 0 1 0 0 USHBP1 83878 broad.mit.edu 37 19 17370465 17370465 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr19:17370465G>A uc002nfs.1 - 5 958 c.845C>T c.(844-846)cCc>cTc p.P282L USHBP1_uc002nfr.1_5'Flank|USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Missense_Mutation_p.P218L|USHBP1_uc010eam.1_Missense_Mutation_p.P210L NM_031941 NP_114147 Q8N6Y0 USBP1_HUMAN Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA. 282 PDZ domain binding p.P282R(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 GGGCTGGTTGGGAAGAGACCC 0.572000 176 29 0 0 1 0 0 LUC7L2 51631 broad.mit.edu 37 7 139092010 139092010 + Missense_Mutation SNP G T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr7:139092010G>T uc011kqt.2 + 6 1033 c.799G>T c.(799-801)Gat>Tat p.D267Y LUC7L2_uc011kqs.2_Missense_Mutation_p.D198Y|LUC7L2_uc003vuy.3_Missense_Mutation_p.D200Y|LUC7L2_uc003vux.3_Missense_Mutation_p.D201Y|LUC7L2_uc003vuz.1_Missense_Mutation_p.D148Y|LUC7L2_uc003vva.3_Missense_Mutation_p.D148Y NM_001244584 NP_001231513 Q9Y383 LC7L2_HUMAN Homo sapiens LUC7-like 2 (S. cerevisiae) (LUC7L2), transcript variant 2, mRNA. 201 Arg/Ser-rich. enzyme binding|metal ion binding NS(2)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1) 16 Melanoma(164;0.242) AGGACTTCATGATAATGACAG 0.393000 62 12 6.40141e-05 6.50143e-05 1 1 0 HLA-DOA 3111 broad.mit.edu 37 6 32974972 32974972 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr6:32974972G>A uc003ocr.3 - 3 710 c.634C>T c.(634-636)Cca>Tca p.P212S HLA-DOA_uc010juj.3_Intron|HLA-DOA_uc010jui.3_3'UTR NM_002119 NP_002110 P06340 DOA_HUMAN Homo sapiens major histocompatibility complex, class II, DO alpha (HLA-DOA), mRNA. 212 Connecting peptide. T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway MHC class II protein complex|endosome membrane|integral to membrane|lysosomal membrane MHC class II receptor activity NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1) 9 GCATCTGGTGGTGGAATAGGC 0.572000 110 59 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176526002 176526002 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:176526002G>A uc001gkz.3 + 1 1708 c.544G>A c.(544-546)Gaa>Aaa p.E182K PAPPA2_uc001gky.1_Missense_Mutation_p.E182K|PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 182 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding p.E182K(3)|p.E182*(2) NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 AACCCTGAACGAACCCAAACC 0.587000 123 37 0 0 1 0 0 SOLH 6650 broad.mit.edu 37 16 597758 597758 + Missense_Mutation SNP C G G TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr16:597758C>G uc002chi.3 + 3 1283 c.920C>G c.(919-921)aCc>aGc p.T307S SOLH_uc002chh.1_Missense_Mutation_p.T307S NM_005632 NP_005623 O75808 CAN15_HUMAN Homo sapiens small optic lobes homolog (Drosophila) (SOLH), mRNA. 307 proteolysis intracellular calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Hepatocellular(780;0.00335) GAGGGTGGCACCAGCCGCGTA 0.706000 20 6 0 0 1 0 0 PCDH17 27253 broad.mit.edu 37 13 58207422 58207422 + Missense_Mutation SNP T C C TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr13:58207422T>C uc001vhq.1 + 0 1634 c.742T>C c.(742-744)Tac>Cac p.Y248H PCDH17_uc010aec.1_Missense_Mutation_p.Y248H NM_001040429 NP_001035519 O14917 PCD17_HUMAN Homo sapiens protocadherin 17 (PCDH17), mRNA. 248 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) GGCGCCATCCTACTTGGTGGA 0.597000 54 8 0 0 1 0 0 IKZF2 22807 broad.mit.edu 37 2 213872200 213872200 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr2:213872200G>A uc002vem.3 - 7 1634 c.1465C>T c.(1465-1467)Cac>Tac p.H489Y IKZF2_uc010fuu.3_Missense_Mutation_p.H344Y|IKZF2_uc002vej.3_Missense_Mutation_p.H436Y|IKZF2_uc002vek.3_Non-coding_Transcript|IKZF2_uc010fuv.3_Missense_Mutation_p.H415Y|IKZF2_uc002vel.3_Missense_Mutation_p.H410Y|IKZF2_uc010fuw.3_Missense_Mutation_p.H263Y|IKZF2_uc010fux.3_Missense_Mutation_p.H263Y|IKZF2_uc010fuy.3_Missense_Mutation_p.H417Y|IKZF2_uc002ven.3_Missense_Mutation_p.H463Y|IKZF2_uc002vei.3_Missense_Mutation_p.H267Y NM_016260 NP_057344 Q9UKS7 IKZF2_HUMAN Homo sapiens IKAROS family zinc finger 2 (Helios) (IKZF2), transcript variant 1, mRNA. 489 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) CAACCCATGTGAATGGTGTAC 0.498000 123 38 0 0 1 0 0 CLCN7 1186 broad.mit.edu 37 16 1502836 1502836 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr16:1502836C>T uc002clv.2 - 14 1383 c.1273G>A c.(1273-1275)Gcc>Acc p.A425T CLCN7_uc002clw.2_Missense_Mutation_p.A401T NM_001287 NP_001278 P51798 CLCN7_HUMAN Homo sapiens chloride channel 7 (CLCN7), transcript variant 1, mRNA. 425 integral to membrane|lysosomal membrane ATP binding|antiporter activity|voltage-gated chloride channel activity breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2) 24 Hepatocellular(780;0.0893) GCAACTGTGGCCGTGACGGCG 0.677000 9 4 0 0 1 0 0 ASH1L 55870 broad.mit.edu 37 1 155448478 155448478 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:155448478G>A uc009wqq.3 - 2 4663 c.4183C>T c.(4183-4185)Ccc>Tcc p.P1395S ASH1L_uc001fkt.3_Missense_Mutation_p.P1395S|ASH1L_uc009wqr.1_Missense_Mutation_p.P1395S NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA. 1395 Pro-rich. DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|chromosome|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) AATCCTATGGGAGCAGCTGTA 0.453000 68 18 0 0 1 0 0 ELF3 1999 broad.mit.edu 37 1 201980309 201980309 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:201980309C>T uc001gxg.4 + 0 3237 c.45C>T c.(43-45)ttC>ttT p.F15F ELF3_uc001gxi.4_Silent_p.F15F|ELF3_uc001gxh.4_Silent_p.F15F NM_004433 NP_004424 P78545 ELF3_HUMAN Homo sapiens E74-like factor 3 (ets domain transcription factor, epithelial-specific ) (ELF3), transcript variant 1, mRNA. 15 epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 20 GCAACTACTTCAGTGCGATGT 0.577000 108 42 0 0 1 0 0 TAF1 6872 broad.mit.edu 37 X 70602452 70602452 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chrX:70602452C>T uc004dzu.4 + 9 1652 c.1601C>T c.(1600-1602)tCt>tTt p.S534F BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Missense_Mutation_p.S555F NM_138923 NP_620278 P21675 TAF1_HUMAN Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA. 534 G1 phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|TBP-class protein binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|transcription coactivator activity breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 124 Renal(35;0.156) all_lung(315;0.000321) AAGGAATCATCTCTGAAGAAG 0.433000 35 15 0 0 1 0 0 BAG4 9530 broad.mit.edu 37 8 38065264 38065264 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr8:38065264C>T uc003xky.2 + 2 895 c.613C>T c.(613-615)Cca>Tca p.P205S BAG4_uc003xkz.2_Missense_Mutation_p.P169S NM_004874 NP_004865 O95429 BAG4_HUMAN Homo sapiens BCL2-associated athanogene 4 (BAG4), transcript variant 1, mRNA. 205 anti-apoptosis|apoptosis|protein folding cytoplasm|nucleus receptor signaling protein activity p.P205S(2) breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1) 11 Colorectal(12;0.000442) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121) GGGGCAGGTTCCAGGATATCC 0.478000 41 9 0 0 1 0 0 GGT6 124975 broad.mit.edu 37 17 4461724 4461724 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr17:4461724C>T uc010vsc.2 - 3 1146 c.1086G>A c.(1084-1086)gtG>gtA p.V362V GGT6_uc010vsb.2_Silent_p.V208V|GGT6_uc002fyd.4_Silent_p.V356V|GGT6_uc002fyc.4_Silent_p.V324V NM_001122890 NP_001116362 Q6P531 GGT6_HUMAN Homo sapiens gamma-glutamyltransferase 6 (GGT6), transcript variant 1, mRNA. 356 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 CGCTGCTGTCCACGGCGGCCA 0.667000 26 16 0 0 1 0 0 C9orf172 389813 broad.mit.edu 37 9 139740250 139740250 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr9:139740250C>T uc011meh.2 + 0 1384 c.1384C>T c.(1384-1386)Ccg>Tcg p.P462S NM_001080482 NP_001073951 C9J069 CI172_HUMAN Homo sapiens chromosome 9 open reading frame 172 (C9orf172), mRNA. 462 endometrium(2)|large_intestine(1)|lung(6) 9 CCGAGAAGACCCGTTGGGCCG 0.761000 12 6 0 0 1 0 0 LAMB4 22798 broad.mit.edu 37 7 107688540 107688540 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr7:107688540C>T uc010ljo.1 - 27 4223 c.4139G>A c.(4138-4140)gGa>gAa p.G1380E LAMB4_uc003vey.2_Missense_Mutation_p.G1380E|LAMB4_uc010ljp.1_Missense_Mutation_p.G349E NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN Homo sapiens laminin, beta 4 (LAMB4), mRNA. 1380 Domain alpha. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 TGGCACATTTCCTGGATCTCC 0.502000 113 36 0 0 1 0 0 FGFR2 2263 broad.mit.edu 37 10 123239527 123239527 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr10:123239527C>T uc021pzz.1 - 17 2957 c.2310G>A c.(2308-2310)ttG>ttA p.L770L FGFR2_uc021pzv.1_Silent_p.L658L|FGFR2_uc021pzw.1_Silent_p.L655L|FGFR2_uc021pzx.1_Intron|FGFR2_uc021pzy.1_Silent_p.L771L|FGFR2_uc010qtl.2_Silent_p.L654L|FGFR2_uc010qtm.2_Silent_p.L653L|FGFR2_uc001lfg.4_Silent_p.L378L|FGFR2_uc001lfk.1_Non-coding_Transcript NM_000141 NP_000132 P21802 FGFR2_HUMAN Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA. 770 Protein kinase. angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding p.L770V(1) breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2) 181 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) GGCTGAGGTCCAAGTATTCCT 0.448000 5 Mis """gastric. NSCLC, endometrial""" """Crouzon, Pfeiffer, and Apert syndromes""" Saethre-Chotzen syndrome;Apert syndrome 102 22 0 0 1 0 0 CHD5 26038 broad.mit.edu 37 1 6212510 6212510 + Missense_Mutation SNP A T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:6212510A>T uc001amb.2 - 5 943 c.832T>A c.(832-834)Ttc>Atc p.F278I NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA. 278 Lys-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) ATCCCCCCGAAGCGGAACTTG 0.537000 35 4 0 0 1 0 0 SLC5A7 60482 broad.mit.edu 37 2 108624964 108624964 + Silent SNP A G G TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr2:108624964A>G uc002tdv.3 + 7 1215 c.939A>G c.(937-939)acA>acG p.T313T SLC5A7_uc010ywm.2_Silent_p.T66T|SLC5A7_uc010fjj.3_Silent_p.T313T|SLC5A7_uc010ywn.2_Silent_p.T200T NM_021815 NP_068587 Q9GZV3 SC5A7_HUMAN Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA. 313 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) CCAAGACTACAGAAGAGGCAG 0.418000 29 4 0 0 1 0 0 PTPRU 10076 broad.mit.edu 37 1 29611308 29611308 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr1:29611308C>T uc001bru.3 + 13 2374 c.2245C>T c.(2245-2247)Ctg>Ttg p.L749L PTPRU_uc009vtq.3_Silent_p.L749L|PTPRU_uc009vtr.3_Silent_p.L749L|PTPRU_uc001brw.3_Silent_p.L749L NM_005704 NP_005695 Q92729 PTPRU_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA. 749 canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 79 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) GGGGCTTATCCTGGGCATCTG 0.597000 66 13 0 0 1 0 0 TIGIT 201633 broad.mit.edu 37 3 114014634 114014634 + Missense_Mutation SNP G A A rs146935299 by1000genomes TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr3:114014634G>A uc003ebg.2 + 1 1059 c.304G>A c.(304-306)Gat>Aat p.D102N NM_173799 NP_776160 Q495A1 TIGIT_HUMAN Homo sapiens T cell immunoreceptor with Ig and ITIM domains (TIGIT), mRNA. 102 Ig-like V-type. negative regulation of T cell activation|negative regulation of interleukin-12 production|positive regulation of interleukin-10 production cell surface|integral to membrane|plasma membrane protein binding p.D102N(2) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1) 17 GACCGTGAACGATACAGGGGA 0.567000 59 24 0 0 1 0 0 PRODH 5625 broad.mit.edu 37 22 18905833 18905833 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr22:18905833G>A uc002zok.4 - 11 1627 c.1423C>T c.(1423-1425)Cac>Tac p.H475Y PRODH_uc002zoj.4_Missense_Mutation_p.H365Y|PRODH_uc002zol.4_Missense_Mutation_p.H367Y NM_016335 NP_057419 O43272 PROD_HUMAN Homo sapiens proline dehydrogenase (oxidase) 1 (PRODH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 475 glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process mitochondrial inner membrane|mitochondrial matrix proline dehydrogenase activity breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1) 9 L-Proline(DB00172) GCGCACCTGTGGTACATGGCG 0.642000 87 7 0 0 1 0 0 ZNF277 11179 broad.mit.edu 37 7 111981074 111981074 + Missense_Mutation SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr7:111981074C>T uc003vge.2 + 10 1286 c.1157C>T c.(1156-1158)cCc>cTc p.P386L ZNF277_uc003vgf.2_Missense_Mutation_p.P308L NM_021994 NP_068834 Q9NRM2 ZN277_HUMAN Homo sapiens zinc finger protein 277 (ZNF277), mRNA. 386 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 15 TCGCTGCTCCCCGATAGAAAG 0.403000 77 14 0 0 1 0 0 SERPINA9 327657 broad.mit.edu 37 14 94935942 94935942 + Missense_Mutation SNP A G G TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr14:94935942A>G uc001ydf.3 - 1 451 c.290T>C c.(289-291)cTg>cCg p.L97P SERPINA9_uc001yde.3_Intron|SERPINA9_uc010avc.3_Intron|SERPINA9_uc001ydg.3_Missense_Mutation_p.L61P|SERPINA9_uc001ydh.1_Missense_Mutation_p.L97P|SERPINA9_uc001ydi.1_Missense_Mutation_p.L61P NM_175739 NP_783866 Q86WD7 SPA9_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 (SERPINA9), transcript variant A, mRNA. 79 regulation of proteolysis cytoplasm|extracellular region|membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17) 21 all_cancers(154;0.0691)|all_epithelial(191;0.233) Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24) GAGCATGGCCAGGGAAGTGGA 0.582000 49 9 0 0 1 0 0 KCNG2 26251 broad.mit.edu 37 18 77659242 77659242 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr18:77659242G>A uc010xfl.2 + 1 827 c.827G>A c.(826-828)gGg>gAg p.G276E NM_012283 NP_036415 Q9UJ96 KCNG2_HUMAN Homo sapiens potassium voltage-gated channel, subfamily G, member 2 (KCNG2), mRNA. 276 energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion voltage-gated potassium channel complex delayed rectifier potassium channel activity breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4) 18 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244) GGCCCGGGCGGGACCAAGCTC 0.711000 31 5 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138421106 138421106 + Missense_Mutation SNP G A A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr2:138421106G>A uc002tva.1 + 24 4522 c.4522G>A c.(4522-4524)Gat>Aat p.D1508N THSD7B_uc010zbj.1_Non-coding_Transcript NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) AAAAATACATGATATTTTTAA 0.363000 16 13 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140167135 140167135 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr5:140167135C>T uc003lhb.2 + 0 1260 c.1260C>T c.(1258-1260)gtC>gtT p.V420V PCDHAC2_uc003lha.2_Silent_p.V420V|PCDHAC2_uc003lgz.3_Silent_p.V420V NM_018900 NP_061723 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA. 434 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCTGTCGGTCTATGAGCTGG 0.637000 140 47 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179485339 179485339 + Silent SNP C T T TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr2:179485339C>T uc021vsy.1 - 196 38430 c.38205G>A c.(38203-38205)agG>agA p.R12735R MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.R6430R|TTN_uc021vta.1_Silent_p.R6363R|TTN_uc021vtb.1_Silent_p.R6238R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 13662 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) GCTCAACAATCCTAAGGTCTT 0.318000 36 6 0 0 1 0 0 NEU4 129807 broad.mit.edu 37 2 242757930 242757953 + In_Frame_Del DEL GCAGCCTCGGGGGGATGGCCCCAG - - TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr2:242757930_242757953delGCAGCCTCGGGGGGATGGCCCCAG uc002wcp.2 + 3 1544_1567 c.1050_1073delGCAGCCTCGGGGGGATGGCCCCAG c.(1048-1074)ctgcagcctcggggggatggccccagg>ctg p.QPRGDGPR351del NEU4_uc010fzr.3_In_Frame_Del_p.QPRGDGPR338del|NEU4_uc002wcm.3_In_Frame_Del_p.QPRGDGPR338del|NEU4_uc002wco.2_In_Frame_Del_p.QPRGDGPR338del|NEU4_uc002wcn.2_In_Frame_Del_p.QPRGDGPR350del NM_001167599 NP_001161074 Q8WWR8 NEUR4_HUMAN Homo sapiens sialidase 4 (NEU4), transcript variant 2, mRNA. 338 Pro-rich. lysosomal lumen|organelle inner membrane exo-alpha-sialidase activity|protein binding breast(1)|lung(10)|prostate(2)|skin(2) 15 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825) TCAGCCGTCTGCAGCCTCGGGGGGATGGCCCCAGGCAGCCTGGC 0.714 --- 27 --- --- 11 --- MMP12 4321 broad.mit.edu 37 11 102738795 102738796 + Splice_Site INS - T T rs33924686 by1000genomes TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr11:102738795_102738796insT uc001phk.3 - 5 727 c.630_splice c.e5+1 p.T210_splice NM_002426 NP_002417 P39900 MMP12_HUMAN Homo sapiens matrix metallopeptidase 12 (macrophage elastase) (MMP12), mRNA. 210 positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding p.N211fs*20(2) autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) AGGAACAAGTGGTGCCTAAGAA 0.416 --- 3 --- --- 3 --- PPAP2C 8612 broad.mit.edu 37 19 290980 290981 + Frame_Shift_Del DEL GC - - TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b970591-a78b-43cb-bbac-d05c8e1e0fcb 3183690e-077e-4025-a16a-420ab5f53114 g.chr19:290980_290981delGC uc002loh.3 - 0 189_190 c.86_87delGC c.(85-87)cgcfs p.R29fs PPAP2C_uc002loi.3_Intron|PPAP2C_uc002loj.3_Intron NM_177543 NP_803545 O43688 LPP2_HUMAN Homo sapiens phosphatidic acid phosphatase type 2C (PPAP2C), transcript variant 3, mRNA. 0 sphingolipid metabolic process integral to membrane|plasma membrane phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1) 5 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGGGATGGAGGCGCGCGCGCGG 0.807 --- 4 --- --- 2 ---