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 t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut KRT75 9119 broad.mit.edu 37 12 52826917 52826917 + Silent SNP C C T TCGA-RY-A83Y-01A-11D-A36O-08 TCGA-RY-A83Y-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd64d5e-ef83-4d59-afee-255bf044af2e 4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18 g.chr12:52826917C>T ENST00000252245.5 - 2 838 c.618G>A c.(616-618)gaG>gaA p.E206E NM_004693.2 NP_004684.2 O95678 K2C75_HUMAN keratin 75 206 Coil 1B.|Rod. keratin filament structural molecule activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(357;0.192) GCCGTCGGAGCTCACTGGTAT 0.552000 50 68 0 0 1 0 0 HIVEP2 3097 broad.mit.edu 37 6 143091825 143091825 + Missense_Mutation SNP T T C TCGA-RY-A83Y-01A-11D-A36O-08 TCGA-RY-A83Y-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd64d5e-ef83-4d59-afee-255bf044af2e 4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18 g.chr6:143091825T>C ENST00000367603.2 - 5 4793 c.4051A>G c.(4051-4053)Aca>Gca p.T1351A HIVEP2_ENST00000367604.1_Missense_Mutation_p.T1351A|HIVEP2_ENST00000012134.2_Missense_Mutation_p.T1351A NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 1351 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) GAAATGCTTGTGTACATGACA 0.498000 5 73 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179463526 179463526 + Missense_Mutation SNP C C T TCGA-RY-A83Y-01A-11D-A36O-08 TCGA-RY-A83Y-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd64d5e-ef83-4d59-afee-255bf044af2e 4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18 g.chr2:179463526C>T ENST00000589042.1 - 291 57135 c.56911G>A c.(56911-56913)Gtg>Atg p.V18971M TTN_ENST00000591111.1_Missense_Mutation_p.V17330M|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V9906M|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V10098M|TTN_ENST00000359218.5_Missense_Mutation_p.V10031M|TTN_ENST00000342992.6_Missense_Mutation_p.V16403M|TTN-AS1_ENST00000456053.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 17330 Fibronectin type-III 37. 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) GCTGGACCCACGCCAGCAGCA 0.428000 73 96 0 0 1 0 0 AUTS2 26053 broad.mit.edu 37 7 70231294 70231294 + Missense_Mutation SNP A A G TCGA-RY-A83Y-01A-11D-A36O-08 TCGA-RY-A83Y-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd64d5e-ef83-4d59-afee-255bf044af2e 4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18 g.chr7:70231294A>G ENST00000342771.4 + 9 1984 c.1663A>G c.(1663-1665)Atc>Gtc p.I555V AUTS2_ENST00000406775.2_Missense_Mutation_p.I555V NM_015570.2 NP_056385.1 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 555 breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) ACCCACCGCCATCATGCCGAC 0.617000 27 32 0 0 1 0 0 CDKN2C 1031 broad.mit.edu 37 1 51439739 51439739 + Nonsense_Mutation SNP G G T TCGA-RY-A83Y-01A-11D-A36O-08 TCGA-RY-A83Y-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd64d5e-ef83-4d59-afee-255bf044af2e 4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18 g.chr1:51439739G>T ENST00000262662.1 + 4 2338 c.304G>T c.(304-306)Gaa>Taa p.E102* CDKN2C_ENST00000371761.3_Nonsense_Mutation_p.E102*|CDKN2C_ENST00000396148.1_Nonsense_Mutation_p.E102* P42773 CDN2C_HUMAN cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) 102 cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|protein kinase binding p.0?(11)|p.?(1) central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1) 23 GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151) CGAGGATAATGAAGGGAACCT 0.532000 D """glioma, MM""" 29 9 4.22769e-11 4.33339e-11 1 1 0 OR1G1 8390 broad.mit.edu 37 17 3029996 3029996 + Missense_Mutation SNP T T C TCGA-RY-A83Y-01A-11D-A36O-08 TCGA-RY-A83Y-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd64d5e-ef83-4d59-afee-255bf044af2e 4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18 g.chr17:3029996T>C ENST00000328890.2 - 1 879 c.850A>G c.(850-852)Atg>Gtg p.M284V NM_003555.1 NP_003546.1 P47890 OR1G1_HUMAN olfactory receptor, family 1, subfamily G, member 1 284 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(3)|skin(3) 11 GGATTCAACATTGGAGTTACC 0.428000 4 63 0 0 1 0 0 AGPAT9 84803 broad.mit.edu 37 4 84519288 84519288 + Missense_Mutation SNP G G A TCGA-RY-A83Y-01A-11D-A36O-08 TCGA-RY-A83Y-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd64d5e-ef83-4d59-afee-255bf044af2e 4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18 g.chr4:84519288G>A ENST00000395226.2 + 11 1299 c.1081G>A c.(1081-1083)Gcc>Acc p.A361T AGPAT9_ENST00000264409.4_Missense_Mutation_p.A361T NM_001256421.1 NP_001243350.1 Q53EU6 GPAT3_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 9 361 phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane glycerol-3-phosphate O-acyltransferase activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3) 13 Hepatocellular(203;0.114) GACCAGCTGGGCCATCGTCTG 0.453000 32 50 0 0 1 0 0 ATP5B 506 broad.mit.edu 37 12 57037371 57037371 + Splice_Site SNP C C T TCGA-RY-A83Y-01A-11D-A36O-08 TCGA-RY-A83Y-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd64d5e-ef83-4d59-afee-255bf044af2e 4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18 g.chr12:57037371C>T ENST00000262030.3 - 5 658 c.607_splice c.e5-1 p.G203_splice ATP5B_ENST00000552919.1_Splice_Site_p.G203_splice NM_001686.3 NP_001677.2 P06576 ATPB_HUMAN ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide 203 angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 ACCAAAAAGCCCTATAAGAGG 0.393000 27 42 0 0 1 0 0 MAN1A1 4121 broad.mit.edu 37 6 119510998 119510998 + Silent SNP G G A TCGA-RY-A83Y-01A-11D-A36O-08 TCGA-RY-A83Y-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd64d5e-ef83-4d59-afee-255bf044af2e 4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18 g.chr6:119510998G>A ENST00000368468.3 - 10 1818 c.1377C>T c.(1375-1377)atC>atT p.I459I NM_005907.3 NP_005898.2 P33908 MA1A1_HUMAN mannosidase, alpha, class 1A, member 1 459 post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity p.I459I(2) central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3) 24 all_epithelial(87;0.173) OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115) TCCACTCTGCGATATAAGTTA 0.498000 7 50 0 0 1 0 0 CASKIN2 57513 broad.mit.edu 37 17 73498194 73498194 + Silent SNP T T C TCGA-RY-A83Y-01A-11D-A36O-08 TCGA-RY-A83Y-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd64d5e-ef83-4d59-afee-255bf044af2e 4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18 g.chr17:73498194T>C ENST00000321617.3 - 18 3547 c.2961A>G c.(2959-2961)tcA>tcG p.S987S CASKIN2_ENST00000433559.2_Silent_p.S905S NM_020753.3 NP_065804.2 Q8WXE0 CSKI2_HUMAN CASK interacting protein 2 987 Pro-rich. cytoplasm endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) TAACAGTGTCTGATTCCGTGA 0.677000 18 22 0 0 1 0 0 UBE2W 55284 broad.mit.edu 37 8 74737473 74737473 + Missense_Mutation SNP T T C TCGA-RY-A83Y-01A-11D-A36O-08 TCGA-RY-A83Y-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd64d5e-ef83-4d59-afee-255bf044af2e 4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18 g.chr8:74737473T>C ENST00000517608.1 - 3 206 c.206A>G c.(205-207)gAc>gGc p.D69G UBE2W_ENST00000419880.3_Missense_Mutation_p.D80G|UBE2W_ENST00000453587.2_Missense_Mutation_p.D40G|RP11-463D19.2_ENST00000358757.5_Missense_Mutation_p.D40G|UBE2W_ENST00000602593.1_Missense_Mutation_p.D40G|UBE2W_ENST00000602969.1_Missense_Mutation_p.D51G Q96B02 UBE2W_HUMAN ubiquitin-conjugating enzyme E2W (putative) 40 protein K11-linked ubiquitination|protein monoubiquitination ATP binding|protein binding|ubiquitin-protein ligase activity kidney(1)|lung(1) 2 Breast(64;0.0311) Epithelial(68;0.0235)|all cancers(69;0.0687)|BRCA - Breast invasive adenocarcinoma(89;0.069) ACCTTCCATGTCTACAATCCA 0.373000 6 2 0 0 1 0 0 SEMA7A 8482 broad.mit.edu 37 15 74708176 74708176 + Missense_Mutation SNP C C T TCGA-RY-A83Y-01A-11D-A36O-08 TCGA-RY-A83Y-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd64d5e-ef83-4d59-afee-255bf044af2e 4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18 g.chr15:74708176C>T ENST00000261918.4 - 8 1500 c.952G>A c.(952-954)Gac>Aac p.D318N SEMA7A_ENST00000542748.1_Missense_Mutation_p.D153N|SEMA7A_ENST00000543145.2_Missense_Mutation_p.D304N NM_003612.3 NP_003603.1 O75326 SEM7A_HUMAN semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group) 318 Sema. axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response anchored to membrane|external side of plasma membrane receptor activity breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1) 30 ACCCTGGTGTCCCTCCACTGG 0.592000 8 22 0 0 1 0 0 NTRK3 4916 broad.mit.edu 37 15 88576211 88576211 + Missense_Mutation SNP T T C TCGA-RY-A83Y-01A-11D-A36O-08 TCGA-RY-A83Y-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd64d5e-ef83-4d59-afee-255bf044af2e 4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18 g.chr15:88576211T>C ENST00000394480.1 - 14 1783 c.1462A>G c.(1462-1464)Atc>Gtc p.I488V NTRK3_ENST00000540489.2_Missense_Mutation_p.I488V|NTRK3_ENST00000360948.2_Missense_Mutation_p.I488V|NTRK3_ENST00000357724.2_Missense_Mutation_p.I480V|NTRK3_ENST00000317501.3_Missense_Mutation_p.I488V|NTRK3_ENST00000542733.2_Missense_Mutation_p.I390V|NTRK3_ENST00000558676.1_Missense_Mutation_p.I480V|NTRK3_ENST00000355254.2_Missense_Mutation_p.I488V|NTRK3_ENST00000558306.1_5'UTR|NTRK3_ENST00000557856.1_Missense_Mutation_p.I480V NM_001243101.1|NM_002530.3 NP_001230030.1|NP_002521.2 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 488 transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) GGCGTGGTGATGCCGTGGTTG 0.607000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 18 13 0 0 1 0 0 KLHL10 317719 broad.mit.edu 37 17 40001799 40001799 + Missense_Mutation SNP T T C TCGA-RY-A83Y-01A-11D-A36O-08 TCGA-RY-A83Y-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd64d5e-ef83-4d59-afee-255bf044af2e 4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18 g.chr17:40001799T>C ENST00000293303.4 + 3 1259 c.1106T>C c.(1105-1107)gTg>gCg p.V369A NM_152467.3 NP_689680.2 Q6JEL2 KLH10_HUMAN kelch-like family member 10 369 cytoplasm breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 26 Breast(137;0.000162) TGGCATCAGGTGGCCCCGATG 0.438000 38 74 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77761931 77761931 + Missense_Mutation SNP G G C TCGA-RY-A83Y-01A-11D-A36O-08 TCGA-RY-A83Y-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd64d5e-ef83-4d59-afee-255bf044af2e 4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18 g.chr8:77761931G>C ENST00000521891.2 + 8 4277 c.3829G>C c.(3829-3831)Gag>Cag p.E1277Q ZFHX4_ENST00000050961.6_Missense_Mutation_p.E1232Q|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E1232Q|ZFHX4_ENST00000518282.1_Missense_Mutation_p.E1251Q NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1232 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 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) AGACTGTGTGGAGAAGCTGCT 0.428000 HNSCC(33;0.089) 3 32 0 0 1 0 0 SMARCD2 6603 broad.mit.edu 37 17 61911857 61911857 + Missense_Mutation SNP G G A TCGA-RY-A83Y-01A-11D-A36O-08 TCGA-RY-A83Y-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd64d5e-ef83-4d59-afee-255bf044af2e 4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18 g.chr17:61911857G>A ENST00000448276.2 - 7 1163 c.898C>T c.(898-900)Ctc>Ttc p.L300F SMARCD2_ENST00000225742.9_Missense_Mutation_p.L225F|SMARCD2_ENST00000323347.10_Missense_Mutation_p.L252F NM_001098426.1 NP_001091896.1 Q92925 SMRD2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 300 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent SWI/SNF complex protein binding|transcription coactivator activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1) 8 ATGAGCAGGAGGGTGCACTTG 0.602000 OREG0024642 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 41 83 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-RY-A83Y-01A-11D-A36O-08 TCGA-RY-A83Y-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd64d5e-ef83-4d59-afee-255bf044af2e 4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 32 47 0 0 1 0 0 ACSL6 23305 broad.mit.edu 37 5 131309076 131309076 + Silent SNP G G A TCGA-RY-A83Y-01A-11D-A36O-08 TCGA-RY-A83Y-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd64d5e-ef83-4d59-afee-255bf044af2e 4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18 g.chr5:131309076G>A ENST00000379264.2 - 12 1194 c.1086C>T c.(1084-1086)caC>caT p.H362H ACSL6_ENST00000431707.1_Silent_p.H317H|ACSL6_ENST00000379249.3_Silent_p.H337H|ACSL6_ENST00000379246.1_Silent_p.H348H|ACSL6_ENST00000357096.1_Intron|ACSL6_ENST00000544770.1_Silent_p.H246H|ACSL6_ENST00000296869.4_Silent_p.H362H|ACSL6_ENST00000543479.1_Silent_p.H337H|ACSL6_ENST00000379255.1_Intron|ACSL6_ENST00000379240.1_Silent_p.H337H|ACSL6_ENST00000379272.2_Silent_p.H352H|ACSL6_ENST00000379244.1_Silent_p.H337H NM_001009185.2 NP_001009185.1 Q9UKU0 ACSL6_HUMAN acyl-CoA synthetase long-chain family member 6 337 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 35 all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CACGCCCTCCGTGGCAATAGA 0.552000 21 14 0 0 1 0 0 FAM71B 153745 broad.mit.edu 37 5 156593091 156593091 + Missense_Mutation SNP C C T TCGA-RY-A83Y-01A-11D-A36O-08 TCGA-RY-A83Y-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd64d5e-ef83-4d59-afee-255bf044af2e 4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18 g.chr5:156593091C>T ENST00000302938.4 - 1 184 c.89G>A c.(88-90)cGa>cAa p.R30Q NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 30 nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTACAATTGTCGTTGCAGGTC 0.403000 8 128 0 0 1 0 0 HAO2 51179 broad.mit.edu 37 1 119934802 119934802 + Nonsense_Mutation SNP C C T TCGA-RY-A83Y-01A-11D-A36O-08 TCGA-RY-A83Y-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd64d5e-ef83-4d59-afee-255bf044af2e 4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18 g.chr1:119934802C>T ENST00000361035.4 + 7 1163 c.880C>T c.(880-882)Cga>Tga p.R294* HAO2_ENST00000325945.3_Nonsense_Mutation_p.R281* NM_001005783.1 NP_001005783.1 Q9NYQ3 HAOX2_HUMAN hydroxyacid oxidase 2 (long chain) 281 FMN hydroxy acid dehydrogenase. LGA -> HED (in Ref. 2; AAF14000). fatty acid alpha-oxidation peroxisome (S)-2-hydroxy-acid oxidase activity p.R281*(1) breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 30 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856) TGGCGGGGTCCGAACTGGCAA 0.527000 24 4 0 0 1 0 0 MYL5 4636 broad.mit.edu 37 4 672778 672778 + Missense_Mutation SNP G G C TCGA-RY-A83Y-01A-11D-A36O-08 TCGA-RY-A83Y-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd64d5e-ef83-4d59-afee-255bf044af2e 4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18 g.chr4:672778G>C ENST00000506838.1 + 4 2544 c.20G>C c.(19-21)gGc>gCc p.G7A MYL5_ENST00000505477.1_Missense_Mutation_p.G7A|MYL5_ENST00000400159.2_Missense_Mutation_p.G48A|MYL5_ENST00000511290.1_Missense_Mutation_p.G7A Q02045 MYL5_HUMAN myosin, light chain 5, regulatory 48 regulation of muscle contraction muscle myosin complex calcium ion binding|structural constituent of muscle endometrium(1)|kidney(1)|lung(1) 3 AACCGAGATGGCTTCATTGAC 0.627000 27 66 0 0 1 0 0 RPL26L1 51121 broad.mit.edu 37 5 172395514 172395514 + Missense_Mutation SNP A A G TCGA-RY-A83Y-01A-11D-A36O-08 TCGA-RY-A83Y-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd64d5e-ef83-4d59-afee-255bf044af2e 4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18 g.chr5:172395514A>G ENST00000521476.1 + 3 345 c.221A>G c.(220-222)tAc>tGc p.Y74C RPL26L1_ENST00000265100.2_Missense_Mutation_p.Y74C|RPL26L1_ENST00000519974.1_Missense_Mutation_p.Y74C|RPL26L1_ENST00000519239.1_Missense_Mutation_p.Y74C Q9UNX3 RL26L_HUMAN ribosomal protein L26-like 1 74 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|large ribosomal subunit structural constituent of ribosome breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1) 7 Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GTCCAGGTGTACAGAAAGAAA 0.478000 5 174 0 0 1 0 0 TDRD7 23424 broad.mit.edu 37 9 100204054 100204054 + Missense_Mutation SNP G G A TCGA-RY-A83Y-01A-11D-A36O-08 TCGA-RY-A83Y-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd64d5e-ef83-4d59-afee-255bf044af2e 4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18 g.chr9:100204054G>A ENST00000355295.4 + 6 1047 c.752G>A c.(751-753)gGc>gAc p.G251D TDRD7_ENST00000422139.2_Missense_Mutation_p.G177D NM_014290.2 NP_055105.2 Q8NHU6 TDRD7_HUMAN tudor domain containing 7 251 Lotus/OST-HTH 2. lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis chromatoid body mRNA binding endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(62;0.158) CATAACAATGGCATTTGGATA 0.343000 28 55 0 0 1 0 0 PCDH7 5099 broad.mit.edu 37 4 30921804 30921804 + Silent SNP G G A TCGA-RY-A83Y-01A-11D-A36O-08 TCGA-RY-A83Y-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd64d5e-ef83-4d59-afee-255bf044af2e 4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18 g.chr4:30921804G>A ENST00000543491.1 + 2 3204 c.3204G>A c.(3202-3204)gtG>gtA p.V1068V PCDH7_ENST00000509925.1_3'UTR O60245 PCDH7_HUMAN protocadherin 7 0 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 55 TTTCTGTTGTGAGTCAGCCTC 0.428000 19 39 0 0 1 0 0 PYGL 5836 broad.mit.edu 37 14 51382685 51382685 + Nonsense_Mutation SNP C C T TCGA-RY-A83Y-01A-11D-A36O-08 TCGA-RY-A83Y-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd64d5e-ef83-4d59-afee-255bf044af2e 4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18 g.chr14:51382685C>T ENST00000216392.7 - 10 1429 c.1097G>A c.(1096-1098)tGg>tAg p.W366* PYGL_ENST00000544180.2_Nonsense_Mutation_p.W332*|PYGL_ENST00000532462.1_Nonsense_Mutation_p.W366* NM_002863.4 NP_002854.3 P06737 PYGL_HUMAN phosphorylase, glycogen, liver 366 glucose homeostasis|glucose metabolic process|glycogen catabolic process cytosol|soluble fraction AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3) 25 all_epithelial(31;0.00825)|Breast(41;0.148) Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140) GGTGAGCTCCCATGCCTGGGG 0.632000 23 32 0 0 1 0 0 RASGRP1 10125 broad.mit.edu 37 15 38793398 38793398 + Missense_Mutation SNP G G T TCGA-RY-A83Y-01A-11D-A36O-08 TCGA-RY-A83Y-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd64d5e-ef83-4d59-afee-255bf044af2e 4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18 g.chr15:38793398G>T ENST00000310803.5 - 13 1806 c.1629C>A c.(1627-1629)aaC>aaA p.N543K RASGRP1_ENST00000558164.1_Missense_Mutation_p.N508K|RASGRP1_ENST00000450598.2_Missense_Mutation_p.N508K|RASGRP1_ENST00000559830.1_Missense_Mutation_p.N508K|RASGRP1_ENST00000539159.1_Missense_Mutation_p.N495K|RASGRP1_ENST00000561180.1_Missense_Mutation_p.N594K NM_001128602.1|NM_005739.3 NP_001122074.1|NP_005730.2 O95267 GRP1_HUMAN RAS guanyl releasing protein 1 (calcium and DAG-regulated) 543 cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574) GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248) TCTCTTGGAAGTTGTGAGGAA 0.522000 25 34 4.72057e-08 4.72057e-08 1 1 0 FUBP1 8880 broad.mit.edu 37 1 78429797 78429797 + Nonsense_Mutation SNP G G A TCGA-RY-A83Y-01A-11D-A36O-08 TCGA-RY-A83Y-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd64d5e-ef83-4d59-afee-255bf044af2e 4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18 g.chr1:78429797G>A ENST00000370767.1 - 12 1078 c.991C>T c.(991-993)Cga>Tga p.R331* FUBP1_ENST00000370768.2_Nonsense_Mutation_p.R331*|FUBP1_ENST00000436586.2_Nonsense_Mutation_p.R352* Q96AE4 FUBP1_HUMAN far upstream element (FUSE) binding protein 1 331 KH 3. transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3) 17 TGTTGACATCGGTCTGGAGGT 0.323000 """F, N""" oligodendroglioma 48 18 0 0 1 0 0 ARHGAP25 9938 broad.mit.edu 37 2 69046419 69046419 + Nonsense_Mutation SNP C C T TCGA-RY-A83Y-01A-11D-A36O-08 TCGA-RY-A83Y-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd64d5e-ef83-4d59-afee-255bf044af2e 4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18 g.chr2:69046419C>T ENST00000295381.3 + 9 1584 c.1165C>T c.(1165-1167)Cga>Tga p.R389* ARHGAP25_ENST00000479844.1_Nonsense_Mutation_p.R83*|ARHGAP25_ENST00000409220.1_Nonsense_Mutation_p.R383*|ARHGAP25_ENST00000409030.3_Nonsense_Mutation_p.R382*|ARHGAP25_ENST00000409202.3_Nonsense_Mutation_p.R390*|ARHGAP25_ENST00000497079.1_Nonsense_Mutation_p.R383*|ARHGAP25_ENST00000467265.1_Nonsense_Mutation_p.R350* NM_001007231.2 NP_001007232.2 P42331 RHG25_HUMAN Rho GTPase activating protein 25 389 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 52 TGAAGACCTCCGAATTTCTAG 0.532000 36 48 0 0 1 0 0 MAPKBP1 23005 broad.mit.edu 37 15 42107938 42107938 + Silent SNP G G A rs143874014 TCGA-RY-A83Y-01A-11D-A36O-08 TCGA-RY-A83Y-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd64d5e-ef83-4d59-afee-255bf044af2e 4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18 g.chr15:42107938G>A ENST00000457542.2 + 12 1720 c.1434G>A c.(1432-1434)tcG>tcA p.S478S MAPKBP1_ENST00000514566.1_Silent_p.S478S|MAPKBP1_ENST00000456763.2_Silent_p.S484S|MAPKBP1_ENST00000260357.7_Silent_p.S317S|MAPKBP1_ENST00000221214.6_Silent_p.S361S NM_014994.2 NP_055809.2 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 1 484 breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) GCATCCGCTCGGTGTGTGTCA 0.597000 18 19 0 0 1 0 0 PLA2G4E 123745 broad.mit.edu 37 15 42298316 42298316 + Missense_Mutation SNP C C T TCGA-RY-A83Y-01A-11D-A36O-08 TCGA-RY-A83Y-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd64d5e-ef83-4d59-afee-255bf044af2e 4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18 g.chr15:42298316C>T ENST00000399518.3 - 4 883 c.397G>A c.(397-399)Gtg>Atg p.V133M PLA2G4E_ENST00000413860.2_Missense_Mutation_p.V104M NM_001206670.1 NP_001193599.1 Q3MJ16 PA24E_HUMAN phospholipase A2, group IVE 115 C2. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1) 16 all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273) OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06) AACTCTAGCACGTTCTAGGGG 0.507000 25 39 0 0 1 0 0 PCDHA2 0 broad.mit.edu 37 5 140176522 140176522 + Missense_Mutation SNP C C T TCGA-RY-A83Y-01A-11D-A36O-08 TCGA-RY-A83Y-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd64d5e-ef83-4d59-afee-255bf044af2e 4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18 g.chr5:140176522C>T ENST00000526136.1 + 1 1973 c.1973C>T c.(1972-1974)gCg>gTg p.A658V PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A658V|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A658V|PCDHA1_ENST00000394633.3_Intron NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCGAACCAGCGTTGACAGCC 0.662000 42 65 0 0 1 0 0 PLEKHG6 55200 broad.mit.edu 37 12 6425456 6425456 + Silent SNP C C T TCGA-RY-A83Y-01A-11D-A36O-08 TCGA-RY-A83Y-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd64d5e-ef83-4d59-afee-255bf044af2e 4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18 g.chr12:6425456C>T ENST00000449001.2 + 6 1040 c.546C>T c.(544-546)agC>agT p.S182S PLEKHG6_ENST00000396988.3_Silent_p.S214S|PLEKHG6_ENST00000011684.7_Silent_p.S214S|PLEKHG6_ENST00000536531.1_Silent_p.S214S NM_001144857.1 NP_001138329.1 Q3KR16 PKHG6_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 6 214 DH. regulation of Rho protein signal transduction cleavage furrow|cytoplasm|spindle pole GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4) 23 ATGTCCCCAGCCTGATTCGAA 0.622000 5 0 0 0 1 0 0 CHPF2 54480 broad.mit.edu 37 7 150932567 150932567 + Missense_Mutation SNP C C T rs56366346 by1000genomes TCGA-RY-A83Y-01A-11D-A36O-08 TCGA-RY-A83Y-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd64d5e-ef83-4d59-afee-255bf044af2e 4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18 g.chr7:150932567C>T ENST00000035307.2 + 2 2210 c.697C>T c.(697-699)Cgg>Tgg p.R233W CHPF2_ENST00000495645.1_Missense_Mutation_p.R225W NM_019015.1 NP_061888.1 Q9P2E5 CHPF2_HUMAN chondroitin polymerizing factor 2 233 Golgi cisterna membrane|integral to membrane N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3) 17 CCTGTTGTCACGGAGTCTCCT 0.602000 42 68 0 0 1 0 0 KIF15 56992 broad.mit.edu 37 3 44879796 44879796 + Silent SNP T T C TCGA-RY-A83Y-01A-11D-A36O-08 TCGA-RY-A83Y-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd64d5e-ef83-4d59-afee-255bf044af2e 4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18 g.chr3:44879796T>C ENST00000326047.4 + 27 3350 c.3201T>C c.(3199-3201)caT>caC p.H1067H KIF15_ENST00000425755.1_Silent_p.H702H NM_020242.2 NP_064627.1 Q9NS87 KIF15_HUMAN kinesin family member 15 1067 blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5) 36 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) ACCTGGCTCATGCCACTGAGC 0.468000 19 22 0 0 1 0 0 CPXCR1 53336 broad.mit.edu 37 X 88008826 88008826 + Silent SNP A A G TCGA-RY-A83Y-01A-11D-A36O-08 TCGA-RY-A83Y-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd64d5e-ef83-4d59-afee-255bf044af2e 4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18 g.chrX:88008826A>G ENST00000276127.4 + 3 670 c.411A>G c.(409-411)tcA>tcG p.S137S CPXCR1_ENST00000373111.1_Silent_p.S137S NM_033048.5 NP_149037.4 Q8N123 CPXCR_HUMAN CPX chromosome region, candidate 1 137 intracellular zinc ion binding NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2) 40 TTTCAACTTCATGGAGAGTCC 0.388000 26 9 0 0 1 0 0 FBXO2 26232 broad.mit.edu 37 1 11710604 11710604 + Frame_Shift_Del DEL C C - TCGA-RY-A83Y-01A-11D-A36O-08 TCGA-RY-A83Y-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd64d5e-ef83-4d59-afee-255bf044af2e 4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18 g.chr1:11710604delC ENST00000354287.4 - 2 651 c.310delG c.(310-312)agfs p.E106fs NM_012168.5 NP_036300.2 Q9UK22 FBX2_HUMAN F-box protein 2 106 glycoprotein catabolic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|endoplasmic reticulum|membrane|microsome|SCF ubiquitin ligase complex sugar binding|ubiquitin-protein ligase activity kidney(1)|large_intestine(1)|lung(4) 6 Ovarian(185;0.249) Lung NSC(185;9.37e-06)|all_lung(284;1.39e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649) CGCTCCTCCTCCACGCCGCCC 0.697 2 4 --- --- --- --- CCT7 10574 broad.mit.edu 37 2 73474935 73474936 + Frame_Shift_Ins INS - - AA TCGA-RY-A83Y-01A-11D-A36O-08 TCGA-RY-A83Y-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd64d5e-ef83-4d59-afee-255bf044af2e 4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18 g.chr2:73474935_73474936insAA ENST00000539919.1 + 8 903_904 c.532_533insAA c.(532-534)cgcfs p.R178fs CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000540468.1_Frame_Shift_Ins_p.R135fs|CCT7_ENST00000537131.1_Frame_Shift_Ins_p.R122fs|CCT7_ENST00000398422.2_Frame_Shift_Ins_p.R18fs|CCT7_ENST00000538797.1_Frame_Shift_Ins_p.R94fs|CCT7_ENST00000258091.5_Frame_Shift_Ins_p.R222fs NM_001166285.1 NP_001159757.1 Q99832 TCPH_HUMAN chaperonin containing TCP1, subunit 7 (eta) 222 'de novo' posttranslational protein folding ATP binding|unfolded protein binding breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1) 7 GACTTTCTCTTACGCTGGGTTT 0.381 25 40 --- --- --- --- NIPBL 25836 broad.mit.edu 37 5 37051937 37051937 + Frame_Shift_Del DEL G G - TCGA-RY-A83Y-01A-11D-A36O-08 TCGA-RY-A83Y-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd64d5e-ef83-4d59-afee-255bf044af2e 4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18 g.chr5:37051937delG ENST00000282516.8 + 41 7510 c.7011delG c.(7009-7011)aafs p.K2337fs NIPBL_ENST00000448238.2_Frame_Shift_Del_p.K2337fs NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 2337 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) TGCGGAACAAGGCTGATCAGC 0.318 36 54 --- --- --- --- LCP2 3937 broad.mit.edu 37 5 169695476 169695476 + Frame_Shift_Del DEL G G - TCGA-RY-A83Y-01A-11D-A36O-08 TCGA-RY-A83Y-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd64d5e-ef83-4d59-afee-255bf044af2e 4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18 g.chr5:169695476delG ENST00000046794.5 - 8 1149 c.534delC c.(532-534)ccfs p.P178fs NM_005565.3 NP_005556.1 Q13094 LCP2_HUMAN lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa) 178 immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway cytosol protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 23 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0109)|all_neural(177;0.0146) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) OV - Ovarian serous cystadenocarcinoma(192;0.247) TTTTCCCAGAGGGGGGCCGGT 0.652 OREG0017023 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- --- ZAN 7455 broad.mit.edu 37 7 100369721 100369721 + RNA DEL T T - TCGA-RY-A83Y-01A-11D-A36O-08 TCGA-RY-A83Y-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd64d5e-ef83-4d59-afee-255bf044af2e 4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18 g.chr7:100369721delT ENST00000542585.1 + 0 5573 ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ctctaaattcttttttttttt 0.532 2 4 --- --- --- --- RP11-274B21.1 0 broad.mit.edu 37 7 128210234 128210235 + RNA INS - - TT rs57917869 TCGA-RY-A83Y-01A-11D-A36O-08 TCGA-RY-A83Y-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd64d5e-ef83-4d59-afee-255bf044af2e 4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18 g.chr7:128210234_128210235insTT ENST00000605862.1 + 0 189 agttttagttcttTTTTTTTTT 0.441 3 5 --- --- --- --- ZBTB5 9925 broad.mit.edu 37 9 37440681 37440682 + Frame_Shift_Del DEL AG AG - TCGA-RY-A83Y-01A-11D-A36O-08 TCGA-RY-A83Y-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd64d5e-ef83-4d59-afee-255bf044af2e 4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18 g.chr9:37440681_37440682delAG ENST00000307750.4 - 2 2055_2056 c.1867_1868delCT c.(1867-1869)gfs p.L623fs NM_014872.2 NP_055687.1 O15062 ZBTB5_HUMAN zinc finger and BTB domain containing 5 623 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1) 8 GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226) TGTCAAAGTCAGAAAAGTTTTG 0.470 32 65 --- --- --- --- AC002331.1 0 broad.mit.edu 37 16 26599065 26599068 + RNA DEL ACAG ACAG - rs71134607 TCGA-RY-A83Y-01A-11D-A36O-08 TCGA-RY-A83Y-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd64d5e-ef83-4d59-afee-255bf044af2e 4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18 g.chr16:26599065_26599068delACAG ENST00000443373.1 - 0 104 ACATACAGACacagacagacagac 0.353 2 4 --- --- --- --- KIAA0753 9851 broad.mit.edu 37 17 6524258 6524259 + Frame_Shift_Del DEL CA CA - TCGA-RY-A83Y-01A-11D-A36O-08 TCGA-RY-A83Y-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd64d5e-ef83-4d59-afee-255bf044af2e 4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18 g.chr17:6524258_6524259delCA ENST00000361413.3 - 7 1522_1523 c.1164_1165delTG c.(1162-1167)agaafs p.SE388fs KIAA0753_ENST00000542606.1_Frame_Shift_Del_p.SE89fs|KIAA0753_ENST00000572370.1_Frame_Shift_Del_p.SE89fs NM_014804.2 NP_055619.2 Q2KHM9 K0753_HUMAN KIAA0753 388 centrosome endometrium(4)|large_intestine(11)|lung(5)|prostate(4) 24 COAD - Colon adenocarcinoma(228;0.157) CTCCGAATTTCACTGAAACATT 0.441 43 79 --- --- --- --- CIC 23152 broad.mit.edu 37 19 42794540 42794550 + Frame_Shift_Del DEL TTCCTCCTCAG TTCCTCCTCAG - TCGA-RY-A83Y-01A-11D-A36O-08 TCGA-RY-A83Y-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd64d5e-ef83-4d59-afee-255bf044af2e 4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18 g.chr19:42794540_42794550delTTCCTCCTCAG ENST00000572681.2 + 11 4415_4425 c.4347_4357delTTCCTCCTCAG c.(4345-4359)gcccfs p.ASSSA1449fs CIC_ENST00000575354.2_Frame_Shift_Del_p.ASSSA540fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.ASSSA540fs Q96RK0 CIC_HUMAN capicua transcriptional repressor 540 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) CCTCGCCTGCTTCCTCCTCAGCCTCGGCAGC 0.687 """Mis, F, S""" oligodendroglioma 26 11 --- --- --- --- FERMT1 55612 broad.mit.edu 37 20 6078223 6078223 + Frame_Shift_Del DEL A A - TCGA-RY-A83Y-01A-11D-A36O-08 TCGA-RY-A83Y-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd64d5e-ef83-4d59-afee-255bf044af2e 4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18 g.chr20:6078223delA ENST00000217289.4 - 7 1693 c.905delT c.(904-906)tafs p.L302fs FERMT1_ENST00000536936.1_Frame_Shift_Del_p.L45fs NM_017671.4 NP_060141.3 Q9BQL6 FERM1_HUMAN fermitin family member 1 302 FERM. cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation cytosol|focal adhesion|ruffle membrane binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 17 AATTTCTTCTAAGAGAATGGC 0.403 43 54 --- --- --- ---