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 OR10J5 127385 broad.mit.edu 37 1 159505463 159505463 + Missense_Mutation SNP C C T TCGA-FG-7634-01A-11D-2086-08 TCGA-FG-7634-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc668076-5204-4c1b-8591-9ad354c15a6d a5d74526-2420-4363-859f-becb06afe263 g.chr1:159505463C>T ENST00000334857.2 - 1 379 c.335G>A c.(334-336)tGc>tAc p.C112Y NM_001004469.1 NP_001004469.1 Q8NHC4 O10J5_HUMAN olfactory receptor, family 10, subfamily J, member 5 112 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 22 all_hematologic(112;0.0429) AAGCAGGAAGCAATTATTAGT 0.468000 39 50 0 0 1 0 0 PCDH9 5101 broad.mit.edu 37 13 67800158 67800158 + Silent SNP T T C TCGA-FG-7634-01A-11D-2086-08 TCGA-FG-7634-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc668076-5204-4c1b-8591-9ad354c15a6d a5d74526-2420-4363-859f-becb06afe263 g.chr13:67800158T>C ENST00000544246.1 - 2 3106 c.2415A>G c.(2413-2415)caA>caG p.Q805Q PCDH9_ENST00000377861.3_Silent_p.Q805Q|PCDH9_ENST00000377865.2_Silent_p.Q805Q|PCDH9_ENST00000456367.1_Silent_p.Q805Q|PCDH9_ENST00000328454.5_Silent_p.Q805Q NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 805 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) TTTGATAGGGTTGGCTACTAT 0.483000 13 180 0 0 1 0 0 OTUD4 54726 broad.mit.edu 37 4 146059006 146059006 + Missense_Mutation SNP G G A TCGA-FG-7634-01A-11D-2086-08 TCGA-FG-7634-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc668076-5204-4c1b-8591-9ad354c15a6d a5d74526-2420-4363-859f-becb06afe263 g.chr4:146059006G>A ENST00000454497.2 - 21 2863 c.2726C>T c.(2725-2727)aCt>aTt p.T909I OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I|OTUD4_ENST00000455611.2_Intron NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 973 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) AACAGGCACAGTTTCTCTCTC 0.463000 7 163 0 0 1 0 0 PCDH7 5099 broad.mit.edu 37 4 30725853 30725853 + Missense_Mutation SNP G G C TCGA-FG-7634-01A-11D-2086-08 TCGA-FG-7634-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc668076-5204-4c1b-8591-9ad354c15a6d a5d74526-2420-4363-859f-becb06afe263 g.chr4:30725853G>C ENST00000361762.2 + 1 3817 c.2809G>C c.(2809-2811)Gac>Cac p.D937H PCDH7_ENST00000543491.1_Missense_Mutation_p.D937H NM_002589.2 NP_002580.2 O60245 PCDH7_HUMAN protocadherin 7 937 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 GCCTAAAAAGGACAAGAAAAA 0.398000 14 34 0 0 1 0 0 SLFN11 91607 broad.mit.edu 37 17 33679774 33679774 + Nonsense_Mutation SNP C C T TCGA-FG-7634-01A-11D-2086-08 TCGA-FG-7634-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc668076-5204-4c1b-8591-9ad354c15a6d a5d74526-2420-4363-859f-becb06afe263 g.chr17:33679774C>T ENST00000394566.1 - 7 2579 c.2307G>A c.(2305-2307)tgG>tgA p.W769* SLFN11_ENST00000308377.4_Nonsense_Mutation_p.W769* NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1 NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1 Q7Z7L1 SLN11_HUMAN schlafen family member 11 769 nucleus ATP binding autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2) 50 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CACCCTGGGACCATTCGGCTT 0.443000 19 30 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42798840 42798840 + Missense_Mutation SNP G G A TCGA-FG-7634-01A-11D-2086-08 TCGA-FG-7634-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc668076-5204-4c1b-8591-9ad354c15a6d a5d74526-2420-4363-859f-becb06afe263 g.chr19:42798840G>A ENST00000572681.2 + 20 7198 c.7130G>A c.(7129-7131)cGg>cAg p.R2377Q CIC_ENST00000160740.3_Missense_Mutation_p.R1469Q|CIC_ENST00000575354.2_Missense_Mutation_p.R1471Q Q96RK0 CIC_HUMAN capicua transcriptional repressor 1471 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) GACCAGCGCCGGGCCCTGGTC 0.612000 """Mis, F, S""" oligodendroglioma 33 24 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856730 53856730 + Silent SNP G G A TCGA-FG-7634-01A-11D-2086-08 TCGA-FG-7634-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc668076-5204-4c1b-8591-9ad354c15a6d a5d74526-2420-4363-859f-becb06afe263 g.chr19:53856730G>A ENST00000458035.1 + 4 2919 c.2802G>A c.(2800-2802)aaG>aaA p.K934K ZNF845_ENST00000595091.1_Silent_p.K934K NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 934 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K934K(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TAATTCATAAGACAATTCATA 0.368000 4 36 0 0 1 0 0 PDE6C 5146 broad.mit.edu 37 10 95381756 95381756 + Missense_Mutation SNP C C T rs143673530 byFrequency TCGA-FG-7634-01A-11D-2086-08 TCGA-FG-7634-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc668076-5204-4c1b-8591-9ad354c15a6d a5d74526-2420-4363-859f-becb06afe263 g.chr10:95381756C>T ENST00000371447.3 + 4 929 c.791C>T c.(790-792)gCg>gTg p.A264V NM_006204.3 NP_006195.3 P51160 PDE6C_HUMAN phosphodiesterase 6C, cGMP-specific, cone, alpha prime 264 GAF 2. visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.123) TTTCACAAAGCGCTCTACACG 0.388000 36 57 0 0 1 0 0 GLB1L 79411 broad.mit.edu 37 2 220103270 220103270 + Missense_Mutation SNP G G A TCGA-FG-7634-01A-11D-2086-08 TCGA-FG-7634-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc668076-5204-4c1b-8591-9ad354c15a6d a5d74526-2420-4363-859f-becb06afe263 g.chr2:220103270G>A ENST00000295759.7 - 13 1487 c.1174C>T c.(1174-1176)Ccc>Tcc p.P392S GLB1L_ENST00000409640.1_Missense_Mutation_p.P302S|GLB1L_ENST00000392089.2_Missense_Mutation_p.P392S|GLB1L_ENST00000356283.3_Missense_Mutation_p.P302S|GLB1L_ENST00000497855.1_5'UTR Q6UWU2 GLB1L_HUMAN galactosidase, beta 1-like 392 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559) Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGCCCACGGGGGCAAAGCAAG 0.448000 35 65 0 0 1 0 0 F2 2147 broad.mit.edu 37 11 46742097 46742097 + Splice_Site SNP G G A TCGA-FG-7634-01A-11D-2086-08 TCGA-FG-7634-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc668076-5204-4c1b-8591-9ad354c15a6d a5d74526-2420-4363-859f-becb06afe263 g.chr11:46742097G>A ENST00000311907.5 + 3 321 c.265_splice c.e3+1 p.A89_splice F2_ENST00000530231.1_Splice_Site_p.A89_splice NM_000506.3 NP_000497.1 P00734 THRB_HUMAN coagulation factor II (thrombin) 89 Gla. activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 27 all_lung(304;0.000414)|Lung NSC(402;0.0011) BRCA - Breast invasive adenocarcinoma(625;0.146) Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898) CAAGTACACAGGTGAGCACCG 0.532000 4 106 0 0 1 0 0 GGA1 26088 broad.mit.edu 37 22 38014515 38014515 + Missense_Mutation SNP C C T TCGA-FG-7634-01A-11D-2086-08 TCGA-FG-7634-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc668076-5204-4c1b-8591-9ad354c15a6d a5d74526-2420-4363-859f-becb06afe263 g.chr22:38014515C>T ENST00000406772.1 + 5 698 c.46C>T c.(46-48)Cgc>Tgc p.R16C GGA1_ENST00000405147.3_Missense_Mutation_p.R89C|GGA1_ENST00000381756.5_Missense_Mutation_p.R106C|GGA1_ENST00000337437.4_Intron|GGA1_ENST00000325180.8_Missense_Mutation_p.R89C|GGA1_ENST00000343632.4_Missense_Mutation_p.R89C NM_001172688.1 NP_001166159.1 Q9UJY5 GGA1_HUMAN golgi-associated, gamma adaptin ear containing, ARF binding protein 1 89 intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|endosome membrane|Golgi apparatus part protein binding breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1) 10 Melanoma(58;0.0574) GGGCAAGTTCCGCTTTCTCAA 0.617000 4 51 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178916645 178916645 + Missense_Mutation SNP G G C TCGA-FG-7634-01A-11D-2086-08 TCGA-FG-7634-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc668076-5204-4c1b-8591-9ad354c15a6d a5d74526-2420-4363-859f-becb06afe263 g.chr3:178916645G>C ENST00000263967.3 + 2 189 c.32G>C c.(31-33)tGg>tCg p.W11S NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 11 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.W11L(2)|p.L10_M16del(1)|p.E9_R19del(1) 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) GGTGAACTGTGGGGCATCCAC 0.403000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 29 28 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856702 53856702 + Missense_Mutation SNP G G A rs150688663 by1000genomes TCGA-FG-7634-01A-11D-2086-08 TCGA-FG-7634-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc668076-5204-4c1b-8591-9ad354c15a6d a5d74526-2420-4363-859f-becb06afe263 g.chr19:53856702G>A ENST00000458035.1 + 4 2891 c.2774G>A c.(2773-2775)cGt>cAt p.R925H ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 925 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R925H(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 AAAACCTTCCGTCACAATTCA 0.363000 4 43 0 0 1 0 0 SFTA3 253970 broad.mit.edu 37 14 36946257 36946257 + Silent SNP G G A TCGA-FG-7634-01A-11D-2086-08 TCGA-FG-7634-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc668076-5204-4c1b-8591-9ad354c15a6d a5d74526-2420-4363-859f-becb06afe263 g.chr14:36946257G>A ENST00000518529.2 - 3 855 c.180C>T c.(178-180)tgC>tgT p.C60C SFTA3_ENST00000518987.1_Intron|RP11-896J10.3_ENST00000521945.1_RNA NM_001101341.1 NP_001094811.1 P0C7M3 SFTA3_HUMAN surfactant associated 3 60 p.C60C(1) breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1) 7 GACTTGGCACGCAAACAGCGA 0.517000 9 142 0 0 1 0 0 PLIN2 123 broad.mit.edu 37 9 19116570 19116570 + Silent SNP G G A TCGA-FG-7634-01A-11D-2086-08 TCGA-FG-7634-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc668076-5204-4c1b-8591-9ad354c15a6d a5d74526-2420-4363-859f-becb06afe263 g.chr9:19116570G>A ENST00000276914.2 - 8 1169 c.990C>T c.(988-990)tcC>tcT p.S330S PLIN2_ENST00000411567.1_Silent_p.S249S NM_001122.3 NP_001113.2 Q99541 PLIN2_HUMAN perilipin 2 330 cellular lipid metabolic process endoplasmic reticulum|extracellular region|lipid particle breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 19 CTTGGATGTTGGACAGGAGGG 0.493000 4 158 0 0 1 0 0 ZNF347 84671 broad.mit.edu 37 19 53652555 53652555 + Silent SNP G G A TCGA-FG-7634-01A-11D-2086-08 TCGA-FG-7634-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc668076-5204-4c1b-8591-9ad354c15a6d a5d74526-2420-4363-859f-becb06afe263 g.chr19:53652555G>A ENST00000452676.2 - 3 507 c.81C>T c.(79-81)ccC>ccT p.P27P ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Silent_p.P27P|ZNF347_ENST00000601469.2_Silent_p.P27P NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 27 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P27P(1) endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) TCCTCTGAGCGGGGTCCAGGC 0.502000 49 45 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124358200 124358200 + Silent SNP C C T TCGA-FG-7634-01A-11D-2086-08 TCGA-FG-7634-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc668076-5204-4c1b-8591-9ad354c15a6d a5d74526-2420-4363-859f-becb06afe263 g.chr12:124358200C>T ENST00000409039.3 + 45 7552 c.7527C>T c.(7525-7527)taC>taT p.Y2509Y NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2509 AAA 3 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) AAGATACTTACGGCCCACCCA 0.473000 6 14 0 0 1 0 0 CELSR1 9620 broad.mit.edu 37 22 46790148 46790148 + Missense_Mutation SNP G G A TCGA-FG-7634-01A-11D-2086-08 TCGA-FG-7634-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc668076-5204-4c1b-8591-9ad354c15a6d a5d74526-2420-4363-859f-becb06afe263 g.chr22:46790148G>A ENST00000262738.3 - 14 5854 c.5855C>T c.(5854-5856)cCg>cTg p.P1952L NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 1952 EGF-like 7; calcium-binding. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) TCTGGGGCACGGAAGGTCGAG 0.562000 5 44 0 0 1 0 0 BEND3 57673 broad.mit.edu 37 6 107391126 107391126 + Silent SNP G G A TCGA-FG-7634-01A-11D-2086-08 TCGA-FG-7634-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc668076-5204-4c1b-8591-9ad354c15a6d a5d74526-2420-4363-859f-becb06afe263 g.chr6:107391126G>A ENST00000429433.2 - 5 1918 c.1269C>T c.(1267-1269)ttC>ttT p.F423F BEND3_ENST00000369042.1_Silent_p.F423F NM_001080450.2 NP_001073919.1 Q5T5X7 BEND3_HUMAN BEN domain containing 3 423 BEN 2. central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3) 30 TGCGGTGGTCGAAGAGCTCGG 0.622000 3 60 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-FG-7634-01A-11D-2086-08 TCGA-FG-7634-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc668076-5204-4c1b-8591-9ad354c15a6d a5d74526-2420-4363-859f-becb06afe263 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_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 38 55 0 0 1 0 0 ACAD11 84129 broad.mit.edu 37 3 132277850 132277850 + Missense_Mutation SNP G G A TCGA-FG-7634-01A-11D-2086-08 TCGA-FG-7634-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc668076-5204-4c1b-8591-9ad354c15a6d a5d74526-2420-4363-859f-becb06afe263 g.chr3:132277850G>A ENST00000264990.6 - 20 3279 c.2308C>T c.(2308-2310)Cgg>Tgg p.R770W ACAD11_ENST00000545291.1_Missense_Mutation_p.R295W|ACAD11_ENST00000355458.3_Missense_Mutation_p.R666W NM_032169.4 NP_115545.3 acyl-CoA dehydrogenase family, member 11 breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 36 GCTTGGTCCCGCAGCTCCATT 0.463000 3 51 0 0 1 0 0 IQSEC3 440073 broad.mit.edu 37 12 280470 280470 + Missense_Mutation SNP A A T TCGA-FG-7634-01A-11D-2086-08 TCGA-FG-7634-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc668076-5204-4c1b-8591-9ad354c15a6d a5d74526-2420-4363-859f-becb06afe263 g.chr12:280470A>T ENST00000382841.2 + 13 2675 c.2263A>T c.(2263-2265)Att>Ttt p.I755F IQSEC3_ENST00000537151.1_Intron|IQSEC3_ENST00000538872.1_Intron|RP11-598F7.6_ENST00000537295.1_lincRNA|IQSEC3_ENST00000326261.4_Intron NM_015232.1 NP_056047.1 Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 0 SEC7. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) AAGAGATACAATTAAAAGTTA 0.493000 55 84 0 0 1 0 0 GABRA4 2557 broad.mit.edu 37 4 46967171 46967171 + Missense_Mutation SNP G G A TCGA-FG-7634-01A-11D-2086-08 TCGA-FG-7634-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc668076-5204-4c1b-8591-9ad354c15a6d a5d74526-2420-4363-859f-becb06afe263 g.chr4:46967171G>A ENST00000264318.3 - 8 1932 c.950C>T c.(949-951)aCc>aTc p.T317I NM_000809.3|NM_001204266.1|NM_001204267.1 NP_000800.2|NP_001191195.1|NP_001191196.1 P48169 GBRA4_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 4 317 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GTCCATGGCGGTAGCATAGGA 0.433000 4 145 0 0 1 0 0 ABCA1 19 broad.mit.edu 37 9 107645364 107645364 + Missense_Mutation SNP C C T rs138438101 TCGA-FG-7634-01A-11D-2086-08 TCGA-FG-7634-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc668076-5204-4c1b-8591-9ad354c15a6d a5d74526-2420-4363-859f-becb06afe263 g.chr9:107645364C>T ENST00000374736.3 - 5 771 c.377G>A c.(376-378)cGc>cAc p.R126H ABCA1_ENST00000374733.1_Missense_Mutation_p.R66H|ABCA1_ENST00000423487.2_Missense_Mutation_p.R126H NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 126 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding p.R126H(1) NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CAGAACTTTGCGCATGTCCTT 0.453000 6 64 0 0 1 0 0 EPHX2 2053 broad.mit.edu 37 8 27401706 27401706 + Missense_Mutation SNP C C A TCGA-FG-7634-01A-11D-2086-08 TCGA-FG-7634-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc668076-5204-4c1b-8591-9ad354c15a6d a5d74526-2420-4363-859f-becb06afe263 g.chr8:27401706C>A ENST00000521400.1 + 18 1964 c.1534C>A c.(1534-1536)Ccc>Acc p.P512T EPHX2_ENST00000517536.1_Missense_Mutation_p.P329T|EPHX2_ENST00000518379.1_Missense_Mutation_p.P480T|EPHX2_ENST00000380476.3_Missense_Mutation_p.P459T|EPHX2_ENST00000521780.1_Missense_Mutation_p.P446T NM_001979.5 NP_001970.2 P34913 HYES_HUMAN epoxide hydrolase 2, cytoplasmic 512 Epoxide hydrolase. aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction epoxide hydrolase activity|metal ion binding|protein homodimerization activity cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1) 27 Ovarian(32;2.61e-05)|all_epithelial(46;0.207) UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157) Tamoxifen(DB00675) CTTTCAGATTCCCCACCTGAA 0.572000 50 132 1.77791e-30 1.77791e-30 1 1 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-FG-7634-01A-11D-2086-08 TCGA-FG-7634-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc668076-5204-4c1b-8591-9ad354c15a6d a5d74526-2420-4363-859f-becb06afe263 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 66 0 0 1 0 0 LILRA2 0 broad.mit.edu 37 19 55086389 55086389 + Missense_Mutation SNP G G A TCGA-FG-7634-01A-11D-2086-08 TCGA-FG-7634-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc668076-5204-4c1b-8591-9ad354c15a6d a5d74526-2420-4363-859f-becb06afe263 g.chr19:55086389G>A ENST00000251377.3 + 5 677 c.544G>A c.(544-546)Gtg>Atg p.V182M LILRA2_ENST00000391737.1_Missense_Mutation_p.V170M|LILRA2_ENST00000391738.3_Missense_Mutation_p.V182M|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.V182M leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 p.V182M(1) breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) CATCTTCTCCGTGGGCCCCGT 0.562000 60 39 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367767 145367767 + Missense_Mutation SNP G G A rs77484671 TCGA-FG-7634-01A-11D-2086-08 TCGA-FG-7634-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc668076-5204-4c1b-8591-9ad354c15a6d a5d74526-2420-4363-859f-becb06afe263 g.chr1:145367767G>A ENST00000342960.5 + 83 10398 c.10363G>A c.(10363-10365)Gaa>Aaa p.E3455K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3455 p.E3455K(5) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) atcaaagaaggaaagaagaag 0.423000 4 38 0 0 1 0 0 SEH1L 81929 broad.mit.edu 37 18 12955479 12955479 + Silent SNP A A G rs140218685 byFrequency TCGA-FG-7634-01A-11D-2086-08 TCGA-FG-7634-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc668076-5204-4c1b-8591-9ad354c15a6d a5d74526-2420-4363-859f-becb06afe263 g.chr18:12955479A>G ENST00000262124.11 + 3 307 c.180A>G c.(178-180)gtA>gtG p.V60V SEH1L_ENST00000399892.2_Silent_p.V60V NM_031216.3 NP_112493.2 Q96EE3 SEH1_HUMAN SEH1-like (S. cerevisiae) 60 attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1) 11 GTGGATCTGTATGGCGTGTGA 0.398000 4 83 0 0 1 0 0 OR4A5 81318 broad.mit.edu 37 11 51411931 51411931 + Silent SNP C C T rs140587389 byFrequency TCGA-FG-7634-01A-11D-2086-08 TCGA-FG-7634-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc668076-5204-4c1b-8591-9ad354c15a6d a5d74526-2420-4363-859f-becb06afe263 g.chr11:51411931C>T ENST00000319760.6 - 1 517 c.465G>A c.(463-465)gcG>gcA p.A155A NM_001005272.3 NP_001005272.3 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, member 5 155 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A155A(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 49 all_lung(304;0.236) CAATTTGAAACGCAGAATGTA 0.453000 21 32 0 0 1 0 0 NCBP2L 392517 broad.mit.edu 37 X 107037824 107037824 + Missense_Mutation SNP G G A TCGA-FG-7634-01A-11D-2086-08 TCGA-FG-7634-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc668076-5204-4c1b-8591-9ad354c15a6d a5d74526-2420-4363-859f-becb06afe263 g.chrX:107037824G>A ENST00000372379.1 + 1 374 c.374G>A c.(373-375)cGc>cAc p.R125H nuclear cap binding protein subunit 2-like large_intestine(1)|lung(2)|skin(1)|urinary_tract(1) 5 CAGTATGGTCGCGGTAAATCT 0.463000 3 57 0 0 1 0 0 CDK12 51755 broad.mit.edu 37 17 37676268 37676268 + Missense_Mutation SNP G G A TCGA-FG-7634-01A-11D-2086-08 TCGA-FG-7634-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc668076-5204-4c1b-8591-9ad354c15a6d a5d74526-2420-4363-859f-becb06afe263 g.chr17:37676268G>A ENST00000447079.4 + 11 3056 c.3023G>A c.(3022-3024)cGg>cAg p.R1008Q CDK12_ENST00000430627.2_Missense_Mutation_p.R1008Q NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 1008 Protein kinase. mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 CCTAGTAAGCGGTGCACAGCT 0.473000 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 59 160 0 0 1 0 0 TYW1B 441250 broad.mit.edu 37 7 72209576 72209576 + RNA SNP C C G rs147711959 by1000genomes TCGA-FG-7634-01A-11D-2086-08 TCGA-FG-7634-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc668076-5204-4c1b-8591-9ad354c15a6d a5d74526-2420-4363-859f-becb06afe263 g.chr7:72209576C>G ENST00000438125.1 - 0 579 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity CTCGGAGCATCGACTATGACA 0.413000 3 91 0 0 1 0 0 ZBTB40 9923 broad.mit.edu 37 1 22838561 22838563 + In_Frame_Del DEL AAG AAG - TCGA-FG-7634-01A-11D-2086-08 TCGA-FG-7634-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc668076-5204-4c1b-8591-9ad354c15a6d a5d74526-2420-4363-859f-becb06afe263 g.chr1:22838561_22838563delAAG ENST00000404138.1 + 12 2906_2908 c.2395_2397delAAG c.(2395-2397)del p.K803del ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del|ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 803 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) CGATGCCCCCAAGAAGAAGAAGA 0.517 9 45 --- --- --- --- ZNF148 7707 broad.mit.edu 37 3 124952387 124952387 + Frame_Shift_Del DEL T T - TCGA-FG-7634-01A-11D-2086-08 TCGA-FG-7634-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc668076-5204-4c1b-8591-9ad354c15a6d a5d74526-2420-4363-859f-becb06afe263 g.chr3:124952387delT ENST00000360647.4 - 9 1668 c.1183delA c.(1183-1185)ttfs p.I395fs ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000484491.1_Frame_Shift_Del_p.I395fs|ZNF148_ENST00000485866.1_Frame_Shift_Del_p.I395fs|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000492394.1_Frame_Shift_Del_p.I395fs NM_021964.2 NP_068799.2 Q9UQR1 ZN148_HUMAN zinc finger protein 148 395 cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3) 28 TTACTATTAATTTTTTTGAGA 0.383 46 22 --- --- --- --- RRP36 88745 broad.mit.edu 37 6 42989434 42989451 + In_Frame_Del DEL CGGGGCCCGACGTCCCCG CGGGGCCCGACGTCCCCG - TCGA-FG-7634-01A-11D-2086-08 TCGA-FG-7634-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc668076-5204-4c1b-8591-9ad354c15a6d a5d74526-2420-4363-859f-becb06afe263 g.chr6:42989434_42989451delCGGGGCCCGACGTCCCCG ENST00000244496.5 + 1 52_69 c.42_59delCGGGGCCCGACGTCCCCG c.(40-60)gcc>gc p.AGARRPR14del NM_033112.2 NP_149103.1 Q96EU6 RRP36_HUMAN ribosomal RNA processing 36 homolog (S. cerevisiae) 14 ribosomal small subunit biogenesis|rRNA processing nucleolus NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1) 11 gggccggggccggggcccgacgtccccgcggggcccgg 0.784 3 5 --- --- --- --- ABCB4 5244 broad.mit.edu 37 7 87074281 87074282 + Frame_Shift_Ins INS - - A TCGA-FG-7634-01A-11D-2086-08 TCGA-FG-7634-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc668076-5204-4c1b-8591-9ad354c15a6d a5d74526-2420-4363-859f-becb06afe263 g.chr7:87074281_87074282insA ENST00000265723.4 - 10 1126_1127 c.1015_1016insT c.(1015-1017)aatfs p.N339fs ABCB4_ENST00000358400.3_Frame_Shift_Ins_p.N339fs|ABCB4_ENST00000545634.1_Frame_Shift_Ins_p.N339fs|ABCB4_ENST00000453593.1_Frame_Shift_Ins_p.N339fs|ABCB4_ENST00000359206.3_Frame_Shift_Ins_p.N339fs NM_000443.3|NM_018849.2 NP_000434.1|NP_061337.1 P21439 MDR3_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 4 339 ABC transmembrane type-1 1. cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity p.S339fs*3(1) breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) AATTAGGATTGAAAAAAAAACC 0.347 7 42 --- --- --- --- LRP1 4035 broad.mit.edu 37 12 57605740 57605742 + In_Frame_Del DEL TGC TGC - TCGA-FG-7634-01A-11D-2086-08 TCGA-FG-7634-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc668076-5204-4c1b-8591-9ad354c15a6d a5d74526-2420-4363-859f-becb06afe263 g.chr12:57605740_57605742delTGC ENST00000243077.3 + 87 13755_13757 c.13289_13291delTGC c.(13288-13293)ttg>t p.LL4432del NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 4432 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CCTCTGCTGTTGCTGCTGCTGCT 0.557 8 304 --- --- --- --- ACE 1636 broad.mit.edu 37 17 61560474 61560474 + Frame_Shift_Del DEL G G - TCGA-FG-7634-01A-11D-2086-08 TCGA-FG-7634-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc668076-5204-4c1b-8591-9ad354c15a6d a5d74526-2420-4363-859f-becb06afe263 g.chr17:61560474delG ENST00000290866.4 + 9 1451 c.1427delG c.(1426-1428)tgfs p.W476fs ACE_ENST00000538928.1_Intron|ACE_ENST00000428043.1_Frame_Shift_Del_p.W476fs|ACE_ENST00000584529.1_Intron NM_000789.3 NP_000780.1 P12821 ACE_HUMAN angiotensin I converting enzyme 476 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) CAGTGGCGCTGGGGGGTCTTT 0.532 8 377 --- --- --- --- BPTF 2186 broad.mit.edu 37 17 65940454 65940456 + In_Frame_Del DEL CAC CAC - rs143937013 TCGA-FG-7634-01A-11D-2086-08 TCGA-FG-7634-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc668076-5204-4c1b-8591-9ad354c15a6d a5d74526-2420-4363-859f-becb06afe263 g.chr17:65940454_65940456delCAC ENST00000321892.4 + 22 7105_7107 c.7044_7046delCAC c.(7042-7047)agc>ag p.ST2348del BPTF_ENST00000424123.3_In_Frame_Del_p.ST2209del|BPTF_ENST00000306378.6_In_Frame_Del_p.ST2222del|BPTF_ENST00000335221.5_In_Frame_Del_p.ST2348del Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 2348 Thr-rich. brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) CCACAGCCAGCACCACCACCACC 0.542 8 191 --- --- --- --- CLEC17A 388512 broad.mit.edu 37 19 14694175 14694176 + In_Frame_Ins INS - - GGA rs34295949 TCGA-FG-7634-01A-11D-2086-08 TCGA-FG-7634-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc668076-5204-4c1b-8591-9ad354c15a6d a5d74526-2420-4363-859f-becb06afe263 g.chr19:14694175_14694176insGGA ENST00000547437.1 + 2 127_128 c.50_51insGGA c.(49-51)aga>aGGAga p.17_17R>RR CLEC17A_ENST00000417570.1_In_Frame_Ins_p.17_17R>RR|CLEC17A_ENST00000397439.2_In_Frame_Ins_p.17_17R>RR NM_207390.3 NP_997273.3 Q6ZS10 CL17A_HUMAN C-type lectin domain family 17, member A 17 cell surface|integral to membrane fucose binding|mannose binding|metal ion binding|receptor activity GAAGGGACCATGGAGGAGGAGG 0.579 4 8 --- --- --- ---