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 PRAMEF20 645425 broad.mit.edu 37 1 13743092 13743092 + Missense_Mutation SNP G G A TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr1:13743092G>A uc009voa.1 + 1 380 c.281G>A c.(280-282)cGt>cAt p.R94H NM_001099852 NP_001093584 Q5VT98 PRA20_HUMAN Homo sapiens PRAME family member 20 (PRAMEF20), mRNA. 94 endometrium(1)|kidney(1)|large_intestine(1)|ovary(1) 4 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.5e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000156)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CACAGGGTTCGTCTCAGGTGA 0.607 HTR1D 3352 broad.mit.edu 37 1 23520158 23520158 + Missense_Mutation SNP C C T TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr1:23520158C>T uc001bgn.3 - 0 1065 c.555G>A c.(553-555)atG>atA p.M185I NM_000864 NP_000855 P28221 5HT1D_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1D (HTR1D), mRNA. 185 G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission integral to plasma membrane serotonin receptor activity NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 9 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185) Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315) GACAGTCCGACATCTCCTCCT 0.592 MTF1 4520 broad.mit.edu 37 1 38305766 38305766 + Missense_Mutation SNP C C T TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr1:38305766C>T uc001cce.1 - 2 614 c.473G>A c.(472-474)cGa>cAa p.R158Q MTF1_uc009vvj.1_5'UTR NM_005955 NP_005946 Q14872 MTF1_HUMAN Homo sapiens metal-regulatory transcription factor 1 (MTF1), mRNA. 158 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1) 31 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) CTGGTGGGTTCGCAGGTTGCC 0.527 IL12RB2 3595 broad.mit.edu 37 1 67861543 67861543 + Missense_Mutation SNP C C T rs141507006 TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr1:67861543C>T uc001ddu.3 + 15 3000 c.2360C>T c.(2359-2361)aCg>aTg p.T787M IL12RB2_uc010oqi.2_3'UTR|IL12RB2_uc010oqj.2_3'UTR|IL12RB2_uc010oqk.2_Non-coding_Transcript|IL12RB2_uc010oql.2_Missense_Mutation_p.T701M|IL12RB2_uc010oqm.2_3'UTR|IL12RB2_uc010oqn.2_Non-coding_Transcript NM_001559 NP_001550 Q99665 I12R2_HUMAN Homo sapiens interleukin 12 receptor, beta 2 (IL12RB2), mRNA. 787 positive regulation of cell proliferation|positive regulation of interferon-gamma production integral to plasma membrane cytokine receptor activity p.T787T(1) breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 45 TGTCCCTGGACGGTGCTCCCA 0.582 LRRC8D 55144 broad.mit.edu 37 1 90400304 90400304 + Silent SNP C C G TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr1:90400304C>G uc021opq.1 + 0 1677 c.1677C>G c.(1675-1677)ctC>ctG p.L559L LRRC8D_uc001dnm.3_Silent_p.L559L|LRRC8D_uc001dnn.3_Silent_p.L559L NM_018103 NP_060573 Q7L1W4 LRC8D_HUMAN Homo sapiens leucine rich repeat containing 8 family, member D (LRRC8D), transcript variant 2, mRNA. 559 integral to membrane protein binding breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1) 29 all_lung(203;0.0894)|Lung NSC(277;0.227) all cancers(265;0.0109)|Epithelial(280;0.0427) TGTATTTGCTCAAAAACCTTC 0.418 C1orf85 112770 broad.mit.edu 37 1 156264001 156264001 + Silent SNP T T A TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr1:156264001T>A uc001foh.3 - 3 619 c.606A>T c.(604-606)cgA>cgT p.R202R C1orf85_uc001fof.4_5'Flank NM_144580 NP_653181 Q8WWB7 NCUG1_HUMAN Homo sapiens chromosome 1 open reading frame 85 (C1orf85), mRNA. 202 positive regulation of transcription from RNA polymerase II promoter cytosol|integral to membrane|lysosomal membrane|nucleus ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3) 14 Hepatocellular(266;0.158) GTTGGGCTGGTCGGCTGGACC 0.592 NTRK1 4914 broad.mit.edu 37 1 156841494 156841494 + Nonsense_Mutation SNP G G A TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr1:156841494G>A uc001fqh.1 + 6 853 c.797G>A c.(796-798)tGg>tAg p.W266* NTRK1_uc001fqf.1_Nonsense_Mutation_p.W236*|NTRK1_uc009wsi.1_Intron|NTRK1_uc001fqi.1_Nonsense_Mutation_p.W266*|NTRK1_uc009wsk.1_Nonsense_Mutation_p.W266* NM_002529 NP_002520 P04629 NTRK1_HUMAN Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA. 266 Ig-like C2-type 1. activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) GTGACGTGCTGGGCAGAGAAC 0.592 T """TPM3, TPR, TFG""" papillary thyroid TSP Lung(10;0.080) SPTA1 6708 broad.mit.edu 37 1 158592861 158592861 + Missense_Mutation SNP G G A TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr1:158592861G>A uc001fst.1 - 42 6231 c.6032C>T c.(6031-6033)gCc>gTc p.A2011V NM_003126 NP_003117 P02549 SPTA1_HUMAN Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA. 2011 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.A2011V(12)|p.A2011A(2) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CAGCAGAGCGGCATAACGCTC 0.483 SIPA1L2 57568 broad.mit.edu 37 1 232574923 232574923 + Missense_Mutation SNP G G A TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr1:232574923G>A uc001hvg.3 - 12 4120 c.3962C>T c.(3961-3963)tCc>tTc p.S1321F SIPA1L2_uc001hvf.3_Missense_Mutation_p.S395F NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA. 1321 Ser-rich. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) GGAGATGGTGGACGCGTAGCC 0.602 SORBS1 10580 broad.mit.edu 37 10 97096883 97096883 + Missense_Mutation SNP C C G TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr10:97096883C>G uc001kkp.3 - 27 3079 c.3034G>C c.(3034-3036)Gag>Cag p.E1012Q SORBS1_uc001kkk.3_Intron|SORBS1_uc001kkl.3_Intron|SORBS1_uc001kkn.3_Intron|SORBS1_uc001kkm.3_Intron|SORBS1_uc001kko.3_Intron|SORBS1_uc001kkq.3_Intron|SORBS1_uc001kkr.3_Intron|SORBS1_uc001kks.3_Intron|SORBS1_uc001kkt.3_Intron|SORBS1_uc001kku.3_Intron|SORBS1_uc001kkv.3_Intron|SORBS1_uc001kkw.3_Missense_Mutation_p.E966Q|SORBS1_uc010qoe.2_Intron NM_001034954 NP_001030126 Q9BX66 SRBS1_HUMAN Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 3, mRNA. 1012 focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens actin binding|insulin receptor binding|SH3/SH2 adaptor activity NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) ATAGAAGCCTCTGGCAGAGGA 0.607 OR10Q1 219960 broad.mit.edu 37 11 57996044 57996044 + Missense_Mutation SNP C C T TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr11:57996044C>T uc010rkd.2 - 0 347 c.304G>A c.(304-306)Ggg>Agg p.G102R NM_001004471 NP_001004471 Q8NGQ4 O10Q1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily Q, member 1 (OR10Q1), mRNA. 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G102V(1) autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2) 35 Breast(21;0.0589) ATTTGGGCCCCACATCCAGCC 0.547 GAB2 9846 broad.mit.edu 37 11 77934481 77934481 + Missense_Mutation SNP C C T TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr11:77934481C>T uc001ozh.3 - 5 1646 c.1544G>A c.(1543-1545)cGc>cAc p.R515H GAB2_uc001ozg.3_Missense_Mutation_p.R477H NM_080491 NP_036428 Q9UQC2 GAB2_HUMAN Homo sapiens GRB2-associated binding protein 2 (GAB2), transcript variant 1, mRNA. 515 osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation cytosol|plasma membrane phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity INTS4/GAB2(2) NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.58e-23) TTTGAGGTTGCGGTTGACAGG 0.547 PDGFD 80310 broad.mit.edu 37 11 103797801 103797801 + Missense_Mutation SNP T T C TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr11:103797801T>C uc001phq.3 - 5 1198 c.826A>G c.(826-828)Aat>Gat p.N276D PDGFD_uc001php.3_Missense_Mutation_p.N270D NM_025208 NP_079484 Q9GZP0 PDGFD_HUMAN Homo sapiens platelet derived growth factor D (PDGFD), transcript variant 1, mRNA. 276 positive regulation of cell division endoplasmic reticulum lumen|extracellular region|Golgi membrane growth factor activity biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165) BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111) ACCGAGTAATTCCTGGGAGTG 0.478 CD163 9332 broad.mit.edu 37 12 7639374 7639374 + Missense_Mutation SNP G G A TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr12:7639374G>A uc001qsz.3 - 9 2307 c.2179C>T c.(2179-2181)Cgc>Tgc p.R727C CD163_uc001qta.3_Missense_Mutation_p.R727C|CD163_uc009zfw.2_Missense_Mutation_p.R760C NM_004244 NP_004235 Q86VB7 C163A_HUMAN Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA. 727 SRCR 7. 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 CCAGCACAGCGACCTCCTCCA 0.458 GUCY2C 2984 broad.mit.edu 37 12 14840978 14840978 + Silent SNP G G A TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr12:14840978G>A uc001rcd.3 - 1 374 c.237C>T c.(235-237)aaC>aaT p.N79N GUCY2C_uc009zhz.2_Silent_p.N79N NM_004963 NP_004954 P25092 GUC2C_HUMAN Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA. 79 intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 TGAAAGTAGCGTTCACAGTCA 0.433 RERGL 79785 broad.mit.edu 37 12 18237578 18237578 + Missense_Mutation SNP G G T TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr12:18237578G>T uc001rdq.3 - 4 402 c.208C>A c.(208-210)Ctc>Atc p.L70I NM_024730 NP_079006 Q9H628 RERGL_HUMAN Homo sapiens RERG/RAS-like (RERGL), mRNA. 70 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 TCACTTGTGAGGGAGAATTTT 0.383 C12orf40 283461 broad.mit.edu 37 12 40114778 40114778 + Missense_Mutation SNP A A G TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr12:40114778A>G uc001rmc.3 + 12 1851 c.1684A>G c.(1684-1686)Aat>Gat p.N562D C12orf40_uc009zjv.1_Intron NM_001031748 NP_001026918 Q86WS4 CL040_HUMAN Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA. 562 p.N562D(4) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2) 38 AGTGAAAAATAATACAGATCA 0.393 C12orf40 283461 broad.mit.edu 37 12 40114932 40114932 + Missense_Mutation SNP A A G TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr12:40114932A>G uc001rmc.3 + 12 2005 c.1838A>G c.(1837-1839)cAg>cGg p.Q613R C12orf40_uc009zjv.1_Intron NM_001031748 NP_001026918 Q86WS4 CL040_HUMAN Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA. 613 breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2) 38 GTTGCCATACAGTGTGATCTA 0.408 C12orf40 283461 broad.mit.edu 37 12 40114983 40114983 + Missense_Mutation SNP A A C TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr12:40114983A>C uc001rmc.3 + 12 2056 c.1889A>C c.(1888-1890)aAc>aCc p.N630T C12orf40_uc009zjv.1_Intron NM_001031748 NP_001026918 Q86WS4 CL040_HUMAN Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA. 630 p.N630S(2) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2) 38 TCTCTTTGCAACCTTGAAAGG 0.363 SLC2A13 114134 broad.mit.edu 37 12 40153845 40153845 + Missense_Mutation SNP C C T TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr12:40153845C>T uc010skm.2 - 9 1981 c.1930G>A c.(1930-1932)Gct>Act p.A644T C12orf40_uc009zjv.1_Intron NM_052885 NP_443117 Q96QE2 MYCT_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 13 (SLC2A13), mRNA. 644 integral to membrane|plasma membrane myo-inositol:hydrogen symporter activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 29 Lung NSC(34;0.105)|all_lung(34;0.123) ACATCAGAAGCATCATTGTCA 0.383 HNSCC(50;0.14) HOXC5 3222 broad.mit.edu 37 12 54427115 54427115 + Missense_Mutation SNP A A C TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr12:54427115A>C uc001sew.3 + 0 284 c.209A>C c.(208-210)cAc>cCc p.H70P HOXC5_uc001set.3_Intron|HOXC4_uc001seu.3_Intron|MIR615_uc021qyl.1_5'Flank NM_018953 NP_061826 Q00444 HXC5_HUMAN Homo sapiens homeobox C5 (HOXC5), transcript variant 1, mRNA. 70 regulation of transcription from RNA polymerase II promoter cell junction|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.H70P(2)|p.A69D(1) cervix(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(2)|urinary_tract(1) 12 CCCCGGGCTCACCCCGACCGC 0.672 R3HDM2 22864 broad.mit.edu 37 12 57677642 57677642 + Missense_Mutation SNP C C G TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr12:57677642C>G uc009zpm.1 - 10 1129 c.1094G>C c.(1093-1095)aGt>aCt p.S365T R3HDM2_uc010srn.1_Non-coding_Transcript|R3HDM2_uc001snu.2_Missense_Mutation_p.S26T|R3HDM2_uc001snr.2_Missense_Mutation_p.S92T|R3HDM2_uc001sns.2_Missense_Mutation_p.S365T|R3HDM2_uc001snt.2_Missense_Mutation_p.S379T NM_014925 NP_055740 Q9Y2K5 R3HD2_HUMAN Homo sapiens R3H domain containing 2 (R3HDM2), mRNA. 365 Ser-rich. nucleus nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 22 GCCGCCTTTACTGCTGCCGAT 0.532 PTPRR 5801 broad.mit.edu 37 12 71286523 71286523 + Missense_Mutation SNP G G A TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr12:71286523G>A uc001swi.2 - 1 707 c.293C>T c.(292-294)gCc>gTc p.A98V NM_002849 NP_570897 Q15256 PTPRR_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA. 98 in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) ACCATCCATGGCCAGCAGATT 0.458 MYF5 4617 broad.mit.edu 37 12 81110965 81110965 + Silent SNP G G A TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr12:81110965G>A uc001szg.2 + 0 258 c.123G>A c.(121-123)gcG>gcA p.A41A NM_005593 NP_005584 P13349 MYF5_HUMAN Homo sapiens myogenic factor 5 (MYF5), mRNA. 41 muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1) 30 CCTTCGGAGCGCACAAAGCAG 0.617 ALX1 8092 broad.mit.edu 37 12 85695019 85695019 + Missense_Mutation SNP G G A TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr12:85695019G>A uc001tae.4 + 3 751 c.747G>A c.(745-747)atG>atA p.M249I NM_006982 NP_008913 Q15699 ALX1_HUMAN Homo sapiens ALX homeobox 1 (ALX1), mRNA. 249 brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1) 26 GBM - Glioblastoma multiforme(134;0.134) CCTCCTGTATGACACCTTATT 0.453 HAL 3034 broad.mit.edu 37 12 96389510 96389510 + Missense_Mutation SNP C C T TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr12:96389510C>T uc001tem.1 - 1 476 c.179G>A c.(178-180)gGc>gAc p.G60D HAL_uc010sux.1_Missense_Mutation_p.G60D|HAL_uc009zti.1_Non-coding_Transcript|HAL_uc010suw.1_5'UTR NM_002108 NP_002099 P42357 HUTH_HUMAN Homo sapiens histidine ammonia-lyase (HAL), mRNA. 60 biosynthetic process|histidine catabolic process cytosol histidine ammonia-lyase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 34 L-Histidine(DB00117) CAGGCCCAGGCCCTTGCACCG 0.642 KL 9365 broad.mit.edu 37 13 33629339 33629339 + Missense_Mutation SNP T T C TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr13:33629339T>C uc001uus.3 + 2 1494 c.1486T>C c.(1486-1488)Ttc>Ctc p.F496L KL_uc001uur.1_Missense_Mutation_p.F189L NM_004795 NP_004786 Q9UEF7 KLOT_HUMAN Homo sapiens klotho (KL), mRNA. 496 Glycosyl hydrolase-1 1. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) TTCAGCCTTGTTCTACCAAAA 0.463 MYO16 23026 broad.mit.edu 37 13 109859183 109859183 + Silent SNP G G A TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr13:109859183G>A uc010agk.2 + 34 6264 c.5642G>A c.(5641-5643)tGa>tAa p.*1881* MYO16_uc001vqt.1_Silent_p.*1859* NM_001198950 NP_001185879 Q9Y6X6 MYO16_HUMAN Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA. 0 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) ACCACCATTTGATGTGGCCTG 0.572 OR5AU1 390445 broad.mit.edu 37 14 21623219 21623219 + Silent SNP G G A TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr14:21623219G>A uc010tlp.2 - 0 966 c.966C>T c.(964-966)gaC>gaT p.D322D NM_001004731 NP_001004731 Q8NGC0 O5AU1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily AU, member 1 (OR5AU1), mRNA. 322 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1) 21 all_cancers(95;0.00238) Epithelial(56;6.88e-07)|all cancers(55;6.02e-06) GBM - Glioblastoma multiforme(265;0.0192) CAACTGTGCGGTCCTGGGTCA 0.493 HEATR5A 25938 broad.mit.edu 37 14 31782317 31782317 + Missense_Mutation SNP C C T TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr14:31782317C>T uc001wrf.4 - 27 4483 c.4298G>A c.(4297-4299)aGa>aAa p.R1433K HEATR5A_uc010ami.3_Missense_Mutation_p.R1038K NM_015473 NP_056288 Q86XA9 HTR5A_HUMAN Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA. 1427 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1) 26 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) TGATCCATTTCTGATACCGTC 0.398 SRP54 6729 broad.mit.edu 37 14 35470222 35470222 + Missense_Mutation SNP T T C TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr14:35470222T>C uc001wso.3 + 3 602 c.251T>C c.(250-252)gTg>gCg p.V84A SRP54_uc010tpp.2_Missense_Mutation_p.V35A|SRP54_uc010tpq.2_Missense_Mutation_p.V20A NM_003136 NP_003127 P61011 SRP54_HUMAN Homo sapiens signal recognition particle 54kDa (SRP54), transcript variant 1, mRNA. 84 G-domain. GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 14 Breast(36;0.0545)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243) GBM - Glioblastoma multiforme(112;0.0396) AAAGAACTTGTGAAGGTAAAA 0.313 SPINT1 6692 broad.mit.edu 37 15 41137192 41137192 + Missense_Mutation SNP G G A TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr15:41137192G>A uc001zna.3 + 1 644 c.440G>A c.(439-441)cGc>cAc p.R147H SPINT1_uc001znb.3_Missense_Mutation_p.R147H|SPINT1_uc001znc.3_Missense_Mutation_p.R147H|SPINT1_uc010ucs.2_Missense_Mutation_p.R147H NM_181642 NP_857593 O43278 SPIT1_HUMAN Homo sapiens serine peptidase inhibitor, Kunitz type 1 (SPINT1), transcript variant 1, mRNA. 147 extracellular region|membrane fraction protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 16 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166) GAAGTGTACCGCTCCTACCGC 0.582 TPSAB1 7177 broad.mit.edu 37 16 1291199 1291199 + Missense_Mutation SNP A A G TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr16:1291199A>G uc002ckz.3 + 2 159 c.107A>G c.(106-108)gAg>gGg p.E36G TPSAB1_uc010uux.2_5'UTR NM_003294 NP_003285 P20231 TRYB2_HUMAN Homo sapiens tryptase alpha/beta 1 (TPSAB1), mRNA. 36 Peptidase S1. proteolysis extracellular region protein binding|serine-type endopeptidase activity NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1) 10 Hepatocellular(780;0.00369) GGGGGTCAGGAGGCCCCCAGG 0.711 MYH11 4629 broad.mit.edu 37 16 15813552 15813552 + Missense_Mutation SNP G G C TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr16:15813552G>C uc002ddx.3 - 35 5100 c.4993C>G c.(4993-4995)Caa>Gaa p.Q1665E MYH11_uc002ddv.3_Missense_Mutation_p.Q1665E|MYH11_uc002ddw.3_Missense_Mutation_p.Q1658E|MYH11_uc002ddy.3_Missense_Mutation_p.Q1658E|MYH11_uc010bvg.3_Missense_Mutation_p.Q1490E|NDE1_uc010uzy.2_Intron|NDE1_uc002dds.3_Intron|MYH11_uc010bvh.3_Missense_Mutation_p.Q364E|NDE1_uc002ddz.1_5'Flank NM_001040114 NP_001035203 P35749 MYH11_HUMAN Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA. 1658 axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 AGCTCTCTTTGAAAGTCCTTC 0.517 T CBFB AML SMG1 23049 broad.mit.edu 37 16 18830977 18830977 + Splice_Site SNP C C T TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr16:18830977C>T uc002dfm.3 - 56 10105 c.9742_splice c.e56-1 p.E3248_splice SMG1_uc010bwb.3_Splice_Site_p.E3108_splice|SMG1_uc010bwa.3_Splice_Site_p.E1979_splice NM_015092 NP_055907 Q96Q15 SMG1_HUMAN Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA. 3248 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 CTAGCTTCTCCTATAAAAGCC 0.413 DNAH3 55567 broad.mit.edu 37 16 21123036 21123036 + Silent SNP G G A TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr16:21123036G>A uc010vbe.2 - 13 2010 c.2010C>T c.(2008-2010)gcC>gcT p.A670A DNAH3_uc002die.2_Silent_p.A610A NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 670 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) CATGATTTAGGGCCGTAGCAT 0.418 PRKCB 5579 broad.mit.edu 37 16 24166173 24166173 + Missense_Mutation SNP A A G TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr16:24166173A>G uc002dmd.3 + 9 1431 c.1234A>G c.(1234-1236)Acc>Gcc p.T412A PRKCB_uc002dme.3_Missense_Mutation_p.T412A NM_212535 NP_997700 P05771 KPCB_HUMAN Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA. 412 Protein kinase. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) CTGCTTCCAGACCATGGTAAC 0.582 OR3A2 4995 broad.mit.edu 37 17 3181702 3181702 + Missense_Mutation SNP G G C TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr17:3181702G>C uc002fvg.3 - 0 567 c.528C>G c.(526-528)aaC>aaG p.N176K NM_002551 NP_002542 P47893 OR3A2_HUMAN Homo sapiens olfactory receptor, family 3, subfamily A, member 2 (OR3A2), mRNA. 176 sensory perception of smell integral to plasma membrane olfactory receptor activity ovary(1) 1 GGCCACAGAAGTTGAGCGTGG 0.567 KRT40 125115 broad.mit.edu 37 17 39140113 39140113 + Missense_Mutation SNP C C T TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr17:39140113C>T uc010cxh.1 - 2 574 c.413G>A c.(412-414)cGt>cAt p.R138H KRT40_uc002hvq.1_Non-coding_Transcript NM_182497 NP_872303 Q6A162 K1C40_HUMAN Homo sapiens keratin 40 (KRT40), mRNA. 138 Coil 1B.|Rod. intermediate filament structural molecule activity p.R138P(2) endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 9 Breast(137;0.00043) GTTGAAGTAACGCTGATAATC 0.483 CDC27 996 broad.mit.edu 37 17 45219612 45219612 + Frame_Shift_Del DEL A A - TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr17:45219612delA uc002ile.4 - 10 1506 c.1379delT c.(1378-1380)ctafs p.L460fs CDC27_uc002ild.4_Frame_Shift_Del_p.L454fs|CDC27_uc002ilf.4_Frame_Shift_Del_p.L454fs|CDC27_uc010wkp.2_Frame_Shift_Del_p.L393fs|CDC27_uc010wkq.1_Intron NM_001114091 NP_001107563 P30260 CDC27_HUMAN Homo sapiens cell division cycle 27 homolog (S. cerevisiae) (CDC27), transcript variant 1, mRNA. 454 Missing (in Ref. 1; AAA60471). anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 TGCTTTTTGTAGATTAAAGGC 0.308 SERPINB3 6318 broad.mit.edu 37 18 61309010 61309010 + Missense_Mutation SNP G G A TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr18:61309010G>A uc002ljf.3 - 3 421 c.335C>T c.(334-336)aCg>aTg p.T112M SERPINB3_uc002lje.3_Missense_Mutation_p.T112M|SERPINB3_uc002ljg.3_Intron NM_002974 NP_002965 P29508 SPB3_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA. 112 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity p.T112T(2)|p.T112M(1) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 AAATTGATACGTCTTTTCTCC 0.423 BEST2 54831 broad.mit.edu 37 19 12863444 12863444 + Missense_Mutation SNP G G A TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr19:12863444G>A uc002mux.3 + 0 38 c.38G>A c.(37-39)cGc>cAc p.R13H NM_017682 NP_060152 Q8NFU1 BEST2_HUMAN Homo sapiens bestrophin 2 (BEST2), mRNA. 13 membrane depolarization|sensory perception of smell chloride channel complex|cilium|plasma membrane chloride channel activity breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1) 12 GCGAACGCCCGCTTCGGTGGC 0.657 SLC35E1 79939 broad.mit.edu 37 19 16664592 16664592 + Silent SNP G G A rs139815009 TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr19:16664592G>A uc010xph.2 - 5 1149 c.1131C>T c.(1129-1131)caC>caT p.H377H MED26_uc002nee.2_Non-coding_Transcript NM_024881 NP_079157 Q96K37 S35E1_HUMAN Homo sapiens solute carrier family 35, member E1 (SLC35E1), mRNA. 377 transport integral to membrane central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1) 15 GATAGTCCCCGTGCTGGGGGA 0.582 FCGBP 8857 broad.mit.edu 37 19 40411954 40411954 + Missense_Mutation SNP T T C TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr19:40411954T>C uc002omp.4 - 6 3682 c.3674A>G c.(3673-3675)gAg>gGg p.E1225G NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 1225 Cys-rich. 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) GCTGGAGGACTCACAGGACAC 0.677 CYP2B6 1555 broad.mit.edu 37 19 41515193 41515193 + Nonsense_Mutation SNP C C T TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr19:41515193C>T uc002opr.1 + 4 722 c.715C>T c.(715-717)Cag>Tag p.Q239* CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Intron NM_000767 NP_000758 P20813 CP2B6_HUMAN Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA. 239 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) CAAAAACCTGCAGGAAATCAA 0.522 APOB 338 broad.mit.edu 37 2 21229086 21229086 + Missense_Mutation SNP C C G TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr2:21229086C>G uc002red.3 - 25 10782 c.10654G>C c.(10654-10656)Gga>Cga p.G3552R NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 3552 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GTGGCTTCTCCAGCAAAATTT 0.443 APOB 338 broad.mit.edu 37 2 21245793 21245793 + Missense_Mutation SNP G G A TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr2:21245793G>A uc002red.3 - 17 2854 c.2726C>T c.(2725-2727)tCg>tTg p.S909L NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 909 Heparin-binding. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CTCCAGACCCGACTCGTGGAA 0.498 NEB 4703 broad.mit.edu 37 2 152476016 152476016 + Silent SNP G G A TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr2:152476016G>A uc021vrb.1 - 67 10121 c.10092C>T c.(10090-10092)ccC>ccT p.P3364P NEB_uc002txu.3_Silent_p.P3607P|NEB_uc021vrc.1_Silent_p.P3607P|NEB_uc010fnx.3_Silent_p.P3352P|NEB_uc021vrd.1_Silent_p.P3364P NM_004543 NP_004534 P20929 NEBU_HUMAN Homo sapiens nebulin (NEB), transcript variant 3, mRNA. 3364 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) CATTCTGGTCGGGCAGGCAGA 0.483 ZNF142 7701 broad.mit.edu 37 2 219509392 219509392 + Missense_Mutation SNP C C T TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr2:219509392C>T uc002vin.3 - 7 2283 c.1847G>A c.(1846-1848)gGg>gAg p.G616E ZNF142_uc002vil.3_Missense_Mutation_p.G577E|ZNF142_uc010fvt.3_Missense_Mutation_p.G453E|ZNF142_uc002vim.3_Missense_Mutation_p.G453E NM_001105537 NP_001099007 P52746 ZN142_HUMAN Homo sapiens zinc finger protein 142 (ZNF142), mRNA. 616 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.W616L(1) breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) CTGCATGGCCCCTTCTGGCTC 0.607 ASB18 401036 broad.mit.edu 37 2 237103656 237103656 + Silent SNP G G A TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr2:237103656G>A uc010znh.2 - 5 1260 c.1260C>T c.(1258-1260)acC>acT p.T420T NM_212556 NP_997721 Q6ZVZ8 ASB18_HUMAN Homo sapiens ankyrin repeat and SOCS box containing 18 (ASB18), mRNA. 420 SOCS box. intracellular signal transduction large_intestine(1)|lung(3)|ovary(1)|prostate(1) 6 all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815) Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244) GGCAGCGTGGGGTGAGGGCCA 0.557 BPIFA3 128861 broad.mit.edu 37 20 31811632 31811632 + Missense_Mutation SNP T T C TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr20:31811632T>C uc002wyr.3 + 1 351 c.143T>C c.(142-144)cTc>cCc p.L48P BPIFA3_uc002wys.3_Missense_Mutation_p.L48P NM_178466 NP_848561 Q9BQP9 SPLC3_HUMAN Homo sapiens BPI fold containing family A, member 3 (BPIFA3), transcript variant 1, mRNA. 48 extracellular region lipid binding GCTCAGGGCCTCATAAAGCAC 0.552 CASS4 57091 broad.mit.edu 37 20 55021057 55021057 + Silent SNP G G A TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr20:55021057G>A uc002xxp.2 + 4 786 c.561_splice c.e4+1 p.K187_splice CASS4_uc002xxq.4_Splice_Site_p.K187_splice|CASS4_uc010zze.1_Splice_Site_p.K133_splice|CASS4_uc002xxr.2_Splice_Site_p.K187_splice|CASS4_uc010gio.2_Splice_Site_p.K187_splice NM_001164116 NP_065089 Q9NQ75 CASS4_HUMAN Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA. 187 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 TGGTCCTGAAGGTGAGCCTTG 0.622 SCN10A 6336 broad.mit.edu 37 3 38743393 38743393 + Nonsense_Mutation SNP G G A TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr3:38743393G>A uc003ciq.3 - 25 4594 c.4594C>T c.(4594-4596)Cag>Tag p.Q1532* NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 1532 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) AAGTAGTACTGCCTCAAAGCG 0.483 CCR5 1234 broad.mit.edu 37 3 46414869 46414869 + Missense_Mutation SNP C C T TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr3:46414869C>T uc003cpo.4 + 2 598 c.476C>T c.(475-477)gCg>gTg p.A159V CCR5_uc010hjd.3_Missense_Mutation_p.A159V|CCR5_uc021wxb.1_Missense_Mutation_p.A159V NM_001100168 NP_001093638 P51681 CCR5_HUMAN Homo sapiens chemokine (C-C motif) receptor 5 (gene/pseudogene) (CCR5), transcript variant B, mRNA. 159 cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection endosome|external side of plasma membrane|integral to plasma membrane actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02) Maraviroc(DB04835) GCTGTGTTTGCGTCTCTCCCA 0.468 SEMA3G 56920 broad.mit.edu 37 3 52469856 52469856 + Silent SNP C C T TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr3:52469856C>T uc003dea.1 - 15 2112 c.2112G>A c.(2110-2112)aaG>aaA p.K704K NM_020163 NP_064548 Q9NS98 SEM3G_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA. 704 multicellular organismal development extracellular region|membrane receptor activity kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1) 18 BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333) TGTACCAGGCCTTGGGTGGGG 0.642 EAF2 55840 broad.mit.edu 37 3 121573665 121573665 + Missense_Mutation SNP A A T TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr3:121573665A>T uc003een.3 + 2 432 c.333A>T c.(331-333)aaA>aaT p.K111N EAF2_uc003eeo.3_Intron NM_018456 NP_060926 Q96CJ1 EAF2_HUMAN Homo sapiens ELL associated factor 2 (EAF2), mRNA. 111 apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1) 9 GBM - Glioblastoma multiforme(114;0.0972) CTGTAAAAAAAACAAGGTATG 0.254 MBNL1 4154 broad.mit.edu 37 3 152163096 152163096 + Missense_Mutation SNP A A T TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr3:152163096A>T uc003ezm.3 + 3 1364 c.575A>T c.(574-576)aAt>aTt p.N192I MBNL1_uc003ezh.3_Missense_Mutation_p.N192I|MBNL1_uc003ezi.3_Missense_Mutation_p.N192I|MBNL1_uc003ezj.3_Missense_Mutation_p.N135I|MBNL1_uc003ezl.3_Missense_Mutation_p.N192I|MBNL1_uc003ezp.3_Missense_Mutation_p.N192I|MBNL1_uc003ezn.3_Missense_Mutation_p.N124I|MBNL1_uc003ezo.3_Missense_Mutation_p.N124I|MBNL1_uc010hvp.3_Missense_Mutation_p.N100I NM_207293 NP_997176 Q9NR56 MBNL1_HUMAN Homo sapiens muscleblind-like (Drosophila) (MBNL1), transcript variant 3, mRNA. 192 embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development nucleus|stress granule double-stranded RNA binding|protein binding|zinc ion binding p.G191D(1) endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) CAACGTGGCAATTGCAACCGA 0.403 PIK3CA 5290 broad.mit.edu 37 3 178916876 178916876 + Missense_Mutation SNP G G A rs121913287 TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr3:178916876G>A uc003fjk.3 + 1 420 c.263G>A c.(262-264)cGa>cAa p.R88Q NM_006218 NP_006209 P42336 PK3CA_HUMAN Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA. 88 PI3K-ABD. R -> Q (in cancer; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.R88Q(102) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) GAAACAAGACGACTTTGTGAC 0.363 R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SKUT1_SOFT_TISSUE)|R88Q(SNGM_ENDOMETRIUM) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) TXK 7294 broad.mit.edu 37 4 48106929 48106929 + Silent SNP A A G TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr4:48106929A>G uc003gxx.4 - 5 576 c.490T>C c.(490-492)Ttg>Ctg p.L164L TXK_uc003gxy.1_Silent_p.L164L NM_003328 NP_003319 P42681 TXK_HUMAN Homo sapiens TXK tyrosine kinase (TXK), mRNA. 164 SH2. cytoplasm ATP binding|non-membrane spanning protein tyrosine kinase activity p.L163L(1) breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2) 25 TCTTGTCTCAATAGATGTTCT 0.254 CCDC158 339965 broad.mit.edu 37 4 77283442 77283442 + Missense_Mutation SNP C C A TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr4:77283442C>A uc003hkb.4 - 11 2010 c.1857G>T c.(1855-1857)aaG>aaT p.K619N NM_001042784 NP_001036249 Q5M9N0 CD158_HUMAN Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA. 619 breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1) 56 GCTCCCGGATCTTTGCATCTT 0.393 DNAH5 1767 broad.mit.edu 37 5 13871097 13871097 + Missense_Mutation SNP C C T TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr5:13871097C>T uc003jfd.2 - 23 3655 c.3613G>A c.(3613-3615)Gcc>Acc p.A1205T NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 1205 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GCAGTCAGGGCGAACTTCAAG 0.403 Kartagener syndrome HEATR7B2 133558 broad.mit.edu 37 5 41051145 41051145 + Silent SNP T T C TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr5:41051145T>C uc003jmj.4 - 12 1768 c.1278A>G c.(1276-1278)gaA>gaG p.E426E HEATR7B2_uc003jmi.4_5'UTR NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA. 426 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 CTCGGACAGATTCCTCTTCCT 0.423 PCDHAC2 56145 broad.mit.edu 37 5 140181903 140181903 + Missense_Mutation SNP T T C TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr5:140181903T>C uc003lhf.2 + 0 1121 c.1121T>C c.(1120-1122)gTg>gCg p.V374A PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.V374A NM_018906 NP_061729 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA. 389 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) CTGATCAGCGTGTCCGACCGC 0.483 GLRA1 2741 broad.mit.edu 37 5 151230995 151230995 + Missense_Mutation SNP T T A TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr5:151230995T>A uc003lut.3 - 6 1155 c.868A>T c.(868-870)Acc>Tcc p.T290S GLRA1_uc003lur.3_Missense_Mutation_p.T290S|GLRA1_uc003lus.3_Missense_Mutation_p.T207S NM_001146040 NP_001139512 P23415 GLRA1_HUMAN Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant 1, mRNA. 290 muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 23 all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GTGGTCATGGTGAGCACAGTG 0.547 ZNF165 7718 broad.mit.edu 37 6 28056507 28056507 + Silent SNP A A G TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr6:28056507A>G uc021yro.1 + 3 1544 c.717A>G c.(715-717)aaA>aaG p.K239K ZNF165_uc003nkh.3_Silent_p.K239K|ZNF165_uc003nki.4_Silent_p.K239K|ZSCAN12P1_uc003nkj.4_5'Flank NM_003447 NP_003438 P49910 ZN165_HUMAN Homo sapiens zinc finger protein 165 (ZNF165), mRNA. 239 viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 AATGGGAAAAAGAATCAGGGG 0.433 SLC26A8 116369 broad.mit.edu 37 6 35922972 35922972 + Missense_Mutation SNP A A T TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr6:35922972A>T uc003olm.3 - 16 2300 c.2189T>A c.(2188-2190)aTg>aAg p.M730K SLC26A8_uc010jwa.3_Non-coding_Transcript|SLC26A8_uc003olk.3_Missense_Mutation_p.M312K|SLC26A8_uc003oll.3_Missense_Mutation_p.M625K|SLC26A8_uc003oln.3_Missense_Mutation_p.M730K NM_001193476 NP_443193 Q96RN1 S26A8_HUMAN Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA. 730 Interaction with RACGAP1.|STAS. cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 46 GTAGTGTACCATGGAGAAATC 0.547 EPM2A 7957 broad.mit.edu 37 6 145948736 145948736 + Missense_Mutation SNP C C T TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr6:145948736C>T uc003qkw.3 - 3 1169 c.812G>A c.(811-813)gGc>gAc p.G271D EPM2A_uc003qkv.3_Missense_Mutation_p.G271D|EPM2A_uc010khr.3_Silent_p.G190G|EPM2A_uc003qkx.3_Missense_Mutation_p.G133D|EPM2A_uc003qku.3_Missense_Mutation_p.G117D NM_005670 NP_005661 O95278 EPM2A_HUMAN Homo sapiens epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) (EPM2A), transcript variant 1, mRNA. 271 Tyrosine-protein phosphatase. glycogen metabolic process cytosol|endoplasmic reticulum|nucleus|plasma membrane|polysome carbohydrate binding|identical protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1) 7 Ovarian(120;0.162) OV - Ovarian serous cystadenocarcinoma(155;3.38e-07)|GBM - Glioblastoma multiforme(68;0.0203) GGTGGAGCGGCCCACCCCAGC 0.632 C7orf10 79783 broad.mit.edu 37 7 40899925 40899925 + Silent SNP G G C TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr7:40899925G>C uc022acd.1 + 14 1287 c.1263G>C c.(1261-1263)gtG>gtC p.V421V C7orf10_uc003thn.2_Silent_p.V395V|C7orf10_uc003tho.2_Silent_p.V347V|C7orf10_uc003thp.2_Non-coding_Transcript NM_001193311 NP_001180240 Q9HAC7 CG010_HUMAN Homo sapiens chromosome 7 open reading frame 10 (C7orf10), transcript variant 1, mRNA. 395 transferase activity endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2) 18 GCCCAGCTGTGAGATACAGTA 0.527 C7orf10 79783 broad.mit.edu 37 7 40899950 40899950 + Missense_Mutation SNP G G C TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr7:40899950G>C uc022acd.1 + 14 1312 c.1288G>C c.(1288-1290)Gag>Cag p.E430Q C7orf10_uc003thn.2_Missense_Mutation_p.E404Q|C7orf10_uc003tho.2_Missense_Mutation_p.E356Q|C7orf10_uc003thp.2_Non-coding_Transcript NM_001193311 NP_001180240 Q9HAC7 CG010_HUMAN Homo sapiens chromosome 7 open reading frame 10 (C7orf10), transcript variant 1, mRNA. 404 transferase activity endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2) 18 CAAGATGTCAGAGGCCAGGCC 0.552 STEAP4 79689 broad.mit.edu 37 7 87912074 87912074 + Missense_Mutation SNP C C A rs79363691 TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr7:87912074C>A uc022agz.1 - 3 1089 c.866G>T c.(865-867)tGc>tTc p.C289F STEAP4_uc003ujs.3_Missense_Mutation_p.C289F|STEAP4_uc010lek.3_Intron NM_001205315 NP_001192244 Q687X5 STEA4_HUMAN Homo sapiens STEAP family member 4 (STEAP4), transcript variant 2, mRNA. 289 Ferric oxidoreductase. fat cell differentiation|ion transport|iron ion homeostasis Golgi membrane|integral to membrane|plasma membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3) 15 Esophageal squamous(14;0.00802) CTGCTTTCGGCAAAGCATCCA 0.478 EZH2 2146 broad.mit.edu 37 7 148506237 148506237 + Silent SNP A A T TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr7:148506237A>T uc003wfd.2 - 18 2299 c.2106T>A c.(2104-2106)gtT>gtA p.V702V EZH2_uc022aov.1_Silent_p.V621V|EZH2_uc011kug.2_Silent_p.V651V|EZH2_uc003wfb.2_Silent_p.V707V|EZH2_uc003wfc.2_Silent_p.V663V|EZH2_uc011kuh.2_Silent_p.V693V NM_001203247 NP_001190176 Q15910 EZH2_HUMAN Homo sapiens enhancer of zeste homolog 2 (Drosophila) (EZH2), transcript variant 3, mRNA. 702 SET. negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|histone-lysine N-methyltransferase activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3) 359 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00239) GATCACCGTTAACCATCATAA 0.443 Mis DLBCL ZFHX4 79776 broad.mit.edu 37 8 77766549 77766549 + Silent SNP G G A TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr8:77766549G>A uc003yau.2 + 9 7779 c.7392G>A c.(7390-7392)tcG>tcA p.S2464S ZFHX4_uc003yaw.1_Silent_p.S2419S NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 2419 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S2448S(2) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GACCTCCCTCGGCCTCTCAAA 0.537 HNSCC(33;0.089) IARS 3376 broad.mit.edu 37 9 95050515 95050515 + Missense_Mutation SNP C C T TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr9:95050515C>T uc004art.1 - 2 426 c.169G>A c.(169-171)Gga>Aga p.G57R IARS_uc004ars.1_5'UTR|IARS_uc004aru.3_Missense_Mutation_p.G57R|IARS_uc010mqr.2_Intron|IARS_uc010mqt.2_Missense_Mutation_p.M12I NM_013417 NP_038203 P41252 SYIC_HUMAN Homo sapiens isoleucyl-tRNA synthetase (IARS), transcript variant long, mRNA. 57 isoleucyl-tRNA aminoacylation cytosol|nucleus|soluble fraction ATP binding|isoleucine-tRNA ligase activity|protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 35 L-Isoleucine(DB00167) AGTATATGTCCATAGTGAGGC 0.368 DNM1 1759 broad.mit.edu 37 9 130965824 130965824 + Silent SNP G G A TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chr9:130965824G>A uc022bob.1 + 0 162 c.75G>A c.(73-75)caG>caA p.Q25Q CIZ1_uc004btw.3_Intron|CIZ1_uc004btv.3_Intron|DNM1_uc022bnx.1_Silent_p.Q25Q|DNM1_uc022bny.1_Silent_p.Q25Q|DNM1_uc022bnz.1_Silent_p.Q25Q|DNM1_uc022boa.1_Silent_p.Q25Q NM_004408 NP_004399 Q05193 DYN1_HUMAN Homo sapiens dynamin 1 (DNM1), transcript variant 1, mRNA. 25 receptor-mediated endocytosis microtubule GTP binding|GTPase activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2) 32 CCATCGGCCAGAACGCGGACC 0.692 CDKL5 6792 broad.mit.edu 37 X 18622176 18622176 + Missense_Mutation SNP C C G TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chrX:18622176C>G uc004cym.3 + 11 1385 c.1132C>G c.(1132-1134)Cca>Gca p.P378A CDKL5_uc004cyn.3_Missense_Mutation_p.P378A|CDKL5_uc022btn.1_Missense_Mutation_p.P369A NM_003159 NP_003150 O76039 CDKL5_HUMAN Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA. 378 neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation dendrite cytoplasm|dendritic growth cone|nucleus ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1) 44 Hepatocellular(33;0.183) TAGTCTTAGTCCACTGCACAC 0.522 PHEX 5251 broad.mit.edu 37 X 22051086 22051086 + Translation_Start_Site SNP A A T TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chrX:22051086A>T uc004dah.3 + 0 PHEX_uc011mjr.2_5'UTR NM_000444 NP_000435 P78562 PHEX_HUMAN Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), mRNA. biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development integral to plasma membrane aminopeptidase activity|metalloendopeptidase activity|zinc ion binding breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 42 AACCACGAAAAGTGACTTTCT 0.502 DCAF8L1 139425 broad.mit.edu 37 X 27998447 27998447 + Silent SNP G G C TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chrX:27998447G>C uc004dbx.1 - 0 1120 c.1005C>G c.(1003-1005)gtC>gtG p.V335V NM_001017930 NP_001017930 A6NGE4 DC8L1_HUMAN Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA. 335 p.V335V(2) NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 56 TATACAGTCCGACTTTCTTAT 0.418 CXorf22 170063 broad.mit.edu 37 X 35966473 35966473 + Missense_Mutation SNP T T A TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chrX:35966473T>A uc004ddj.3 + 3 626 c.560T>A c.(559-561)aTt>aAt p.I187N CXorf22_uc010ngv.3_Non-coding_Transcript NM_152632 NP_689845 Q6ZTR5 CX022_HUMAN Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA. 187 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 CCCATCCTCATTTTTCCAACT 0.403 OTC 5009 broad.mit.edu 37 X 38260563 38260563 + Missense_Mutation SNP G G C rs68026851 TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chrX:38260563G>C uc004def.4 + 4 636 c.422G>C c.(421-423)cGa>cCa p.R141P NM_000531 NP_000522 P00480 OTC_HUMAN Homo sapiens ornithine carbamoyltransferase (OTC), nuclear gene encoding mitochondrial protein, mRNA. 141 R -> P (in OTCD).|R -> Q (in OTCD; activity is 100-fold lower; most common point mutation). arginine biosynthetic process|urea cycle mitochondrial matrix|ornithine carbamoyltransferase complex ornithine carbamoyltransferase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 L-Citrulline(DB00155)|L-Ornithine(DB00129) GTATTGGCTCGAGTGTATAAA 0.378 MAOB 4129 broad.mit.edu 37 X 43626865 43626865 + Missense_Mutation SNP C C G TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chrX:43626865C>G uc004dfz.4 - 15 1587 c.1411_splice c.e15-1 p.D471_splice MAOB_uc011mkx.2_Splice_Site|MAOB_uc011mky.2_Splice_Site_p.D455_splice NM_000898 NP_000889 P27338 AOFB_HUMAN Homo sapiens monoamine oxidase B (MAOB), nuclear gene encoding mitochondrial protein, mRNA. 471 xenobiotic metabolic process integral to membrane|mitochondrial outer membrane electron carrier activity|primary amine oxidase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5) 21 Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752) GCAGGGACATCCTAGGTTCAG 0.493 ATRX 546 broad.mit.edu 37 X 76938530 76938530 + Nonsense_Mutation SNP C C A TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chrX:76938530C>A uc004ecp.4 - 8 2450 c.2218G>T c.(2218-2220)Gag>Tag p.E740* ATRX_uc004ecq.4_Nonsense_Mutation_p.E702*|ATRX_uc004eco.4_Nonsense_Mutation_p.E525*|ATRX_uc004ecr.2_Nonsense_Mutation_p.E672*|ATRX_uc010nlx.1_Nonsense_Mutation_p.E711*|ATRX_uc010nly.1_Nonsense_Mutation_p.E685* NM_000489 NP_000480 P46100 ATRX_HUMAN Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA. 740 E -> G (in dbSNP:rs1051680). DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) CTGCTCACCTCTTTGAGGATT 0.358 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome RPL36A-HNRNPH2 6173 broad.mit.edu 37 X 100646547 100646547 + Missense_Mutation SNP C C T TCGA-06-6391-01A-11D-1696-08 TCGA-06-6391-10A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40fc77dc-46df-4487-925f-1d87c5326661 db316976-37ef-47d9-b41d-895875794399 g.chrX:100646547C>T uc022cag.1 + 1 258 c.212C>T c.(211-213)gCc>gTc p.A71V RPL36A-HNRNPH2_uc022cah.1_Missense_Mutation_p.A71V|BTK_uc010nno.2_5'Flank|RPL36A-HNRNPH2_uc004ehj.2_Missense_Mutation_p.A71V|RPL36A-HNRNPH2_uc004ehk.3_Missense_Mutation_p.A35V NM_001199973 NP_001186902 Homo sapiens RPL36A-HNRNPH2 readthrough (RPL36A-HNRNPH2), transcript variant 1, mRNA. TCTCTGTACGCCCAGGGTAAG 0.483