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 FLNA 0 broad.mit.edu 37 X 153580679 153580679 + Silent SNP G G A TCGA-ET-A2MX-01A-11D-A23M-08 TCGA-ET-A2MX-11C-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6818a84d-3c69-4a28-b435-cc24bc054277 598b09bc-2542-4146-89d3-fdbb1bbe1f60 g.chrX:153580679G>A ENST00000422373.1 - 40 6863 c.6615C>T c.(6613-6615)agC>agT p.S2205S FLNA_ENST00000369850.3_Silent_p.S2213S|FLNA_ENST00000369856.3_Silent_p.S346S|FLNA_ENST00000360319.4_Silent_p.S2205S|FLNA_ENST00000344736.4_Silent_p.S2173S NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 2213 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TGTACTTCACGCTGACTGTGT 0.647000 4 32 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102292770 102292770 + RNA SNP C C T rs149751844 by1000genomes TCGA-ET-A2MX-01A-11D-A23M-08 TCGA-ET-A2MX-11C-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6818a84d-3c69-4a28-b435-cc24bc054277 598b09bc-2542-4146-89d3-fdbb1bbe1f60 g.chr15:102292770C>T ENST00000561463.1 + 0 816 AGCGGCGCGACGAGATGCTGC 0.597000 3 26 0 0 1 0 0 HSP90AA1 3320 broad.mit.edu 37 14 102548619 102548619 + Missense_Mutation SNP G G A TCGA-ET-A2MX-01A-11D-A23M-08 TCGA-ET-A2MX-11C-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6818a84d-3c69-4a28-b435-cc24bc054277 598b09bc-2542-4146-89d3-fdbb1bbe1f60 g.chr14:102548619G>A ENST00000334701.7 - 11 2565 c.2284C>T c.(2284-2286)Cat>Tat p.H762Y HSP90AA1_ENST00000216281.8_Missense_Mutation_p.H640Y NM_001017963.2 NP_001017963.2 P07900 HS90A_HUMAN heat shock protein 90kDa alpha (cytosolic), class A member 1 640 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1) 28 Rifabutin(DB00615) ATAATGGAATGGTCAGGGTTT 0.448000 6 195 0 0 1 0 0 RNF113A 7737 broad.mit.edu 37 X 119005413 119005413 + Missense_Mutation SNP C C T TCGA-ET-A2MX-01A-11D-A23M-08 TCGA-ET-A2MX-11C-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6818a84d-3c69-4a28-b435-cc24bc054277 598b09bc-2542-4146-89d3-fdbb1bbe1f60 g.chrX:119005413C>T ENST00000371442.2 - 1 378 c.164G>A c.(163-165)cGa>cAa p.R55Q NM_006978.2 NP_008909.1 O15541 R113A_HUMAN ring finger protein 113A 55 nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6) 15 CTTTTCCGGTCGAACCACAGT 0.607000 9 152 0 0 1 0 0 MAN1C1 57134 broad.mit.edu 37 1 26107493 26107493 + Missense_Mutation SNP C C A TCGA-ET-A2MX-01A-11D-A23M-08 TCGA-ET-A2MX-11C-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6818a84d-3c69-4a28-b435-cc24bc054277 598b09bc-2542-4146-89d3-fdbb1bbe1f60 g.chr1:26107493C>A ENST00000374332.4 + 10 1870 c.1540C>A c.(1540-1542)Ctg>Atg p.L514M MAN1C1_ENST00000374329.1_Missense_Mutation_p.L285M|MAN1C1_ENST00000263979.3_Missense_Mutation_p.L334M NM_020379.2 NP_065112.1 Q9NR34 MA1C1_HUMAN mannosidase, alpha, class 1C, member 1 514 post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2) 25 Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232) UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803) GGCCACCCAGCTGAGCGAGAG 0.612000 4 119 1 1 1 1 0 CARF 79800 broad.mit.edu 37 2 203806639 203806639 + Missense_Mutation SNP A A G TCGA-ET-A2MX-01A-11D-A23M-08 TCGA-ET-A2MX-11C-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6818a84d-3c69-4a28-b435-cc24bc054277 598b09bc-2542-4146-89d3-fdbb1bbe1f60 g.chr2:203806639A>G ENST00000320443.8 + 3 1057 c.14A>G c.(13-15)aAt>aGt p.N5S CARF_ENST00000428585.1_Missense_Mutation_p.N5S|CARF_ENST00000545253.1_Intron|CARF_ENST00000444724.1_Missense_Mutation_p.N5S|CARF_ENST00000434998.1_Intron|WDR12_ENST00000477723.1_Intron|CARF_ENST00000471271.1_3'UTR|CARF_ENST00000456821.2_Intron|CARF_ENST00000545262.1_Missense_Mutation_p.N5S|CARF_ENST00000414439.1_Intron|CARF_ENST00000402905.2_Missense_Mutation_p.N5S|CARF_ENST00000438828.2_Missense_Mutation_p.N5S calcium responsive transcription factor GAACAATCTAATGATTCATTA 0.343000 6 78 0 0 1 0 0 C9orf123 0 broad.mit.edu 37 9 7799725 7799725 + Missense_Mutation SNP G G A TCGA-ET-A2MX-01A-11D-A23M-08 TCGA-ET-A2MX-11C-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6818a84d-3c69-4a28-b435-cc24bc054277 598b09bc-2542-4146-89d3-fdbb1bbe1f60 g.chr9:7799725G>A ENST00000358227.4 - 1 342 c.10C>T c.(10-12)Cgg>Tgg p.R4W C9orf123_ENST00000484082.1_Intron NM_033428.1 NP_219500.1 Q96GE9 CI123_HUMAN 4 integral to membrane lung(1) 1 all_cancers(3;0.0539)|Lung NSC(3;3.36e-05)|all_lung(3;0.000156)|all_epithelial(3;0.0356) GBM - Glioblastoma multiforme(50;0.0561) TGGGACAACCGAGACCCCATG 0.642000 20 28 0 0 1 0 0 OR5I1 10798 broad.mit.edu 37 11 55702995 55702995 + Missense_Mutation SNP C C G TCGA-ET-A2MX-01A-11D-A23M-08 TCGA-ET-A2MX-11C-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6818a84d-3c69-4a28-b435-cc24bc054277 598b09bc-2542-4146-89d3-fdbb1bbe1f60 g.chr11:55702995C>G ENST00000301532.3 - 1 881 c.882G>C c.(880-882)ttG>ttC p.L294F NM_006637.1 NP_006628.1 Q13606 OR5I1_HUMAN olfactory receptor, family 5, subfamily I, member 1 294 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 CTTTATTTCTCAAACTATAAA 0.358000 11 16 0 0 1 0 0 GPR45 11250 broad.mit.edu 37 2 105859266 105859266 + Silent SNP C C T TCGA-ET-A2MX-01A-11D-A23M-08 TCGA-ET-A2MX-11C-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6818a84d-3c69-4a28-b435-cc24bc054277 598b09bc-2542-4146-89d3-fdbb1bbe1f60 g.chr2:105859266C>T ENST00000258456.1 + 1 1067 c.951C>T c.(949-951)tcC>tcT p.S317S NM_007227.3 NP_009158.3 Q9Y5Y3 GPR45_HUMAN G protein-coupled receptor 45 317 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 28 ACCTCAAGTCCGTCTTCAACC 0.552000 7 135 0 0 1 0 0 LILRB5 0 broad.mit.edu 37 19 54754946 54754946 + Silent SNP G G A rs146755009 by1000genomes TCGA-ET-A2MX-01A-11D-A23M-08 TCGA-ET-A2MX-11C-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6818a84d-3c69-4a28-b435-cc24bc054277 598b09bc-2542-4146-89d3-fdbb1bbe1f60 g.chr19:54754946G>A ENST00000450632.1 - 13 1766 c.1689C>T c.(1687-1689)ccC>ccT p.P563P LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 570 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) ACAGTGGGGAGGGAGGAGAGG 0.577000 3 21 0 0 1 0 0 IL17RB 55540 broad.mit.edu 37 3 53898851 53898851 + Missense_Mutation SNP T T C TCGA-ET-A2MX-01A-11D-A23M-08 TCGA-ET-A2MX-11C-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6818a84d-3c69-4a28-b435-cc24bc054277 598b09bc-2542-4146-89d3-fdbb1bbe1f60 g.chr3:53898851T>C ENST00000288167.3 + 11 1034 c.1025T>C c.(1024-1026)aTa>aCa p.I342T NM_018725.3 NP_061195.2 Q9NRM6 I17RB_HUMAN interleukin 17 receptor B 342 SEFIR. defense response|regulation of cell growth extracellular region|integral to plasma membrane cytokine receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1) 13 BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118) CCATCTGAAATATGTTTCCAT 0.393000 5 86 0 0 1 0 0 TNC 3371 broad.mit.edu 37 9 117849425 117849425 + Silent SNP G G A TCGA-ET-A2MX-01A-11D-A23M-08 TCGA-ET-A2MX-11C-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6818a84d-3c69-4a28-b435-cc24bc054277 598b09bc-2542-4146-89d3-fdbb1bbe1f60 g.chr9:117849425G>A ENST00000350763.4 - 3 996 c.585C>T c.(583-585)caC>caT p.H195H TNC_ENST00000535648.1_Silent_p.H195H|TNC_ENST00000542877.1_Silent_p.H195H|TNC_ENST00000341037.4_Silent_p.H195H|TNC_ENST00000537320.1_Silent_p.H195H|TNC_ENST00000346706.3_Silent_p.H195H|TNC_ENST00000340094.3_Silent_p.H195H|TNC_ENST00000345230.3_Silent_p.H195H|TNC_ENST00000423613.2_Silent_p.H195H NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 195 EGF-like 2. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 GGCCTCGAAGGTGACAGTTGC 0.622000 51 48 0 0 1 0 0 DCTD 1635 broad.mit.edu 37 4 183815718 183815718 + Silent SNP C C T TCGA-ET-A2MX-01A-11D-A23M-08 TCGA-ET-A2MX-11C-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6818a84d-3c69-4a28-b435-cc24bc054277 598b09bc-2542-4146-89d3-fdbb1bbe1f60 g.chr4:183815718C>T ENST00000438320.2 - 4 575 c.285G>A c.(283-285)tcG>tcA p.S95S DCTD_ENST00000357067.3_Silent_p.S106S|DCTD_ENST00000510370.1_Silent_p.S95S NM_001921.2 NP_001912.2 P32321 DCTD_HUMAN dCMP deaminase 95 S -> L (in Ref. 6; AAH01286). nucleotide biosynthetic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide metabolic process cytosol dCMP deaminase activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|urinary_tract(1) 18 all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202) all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419) TCACATCGGTCGAATTTTTGT 0.438000 14 33 0 0 1 0 0 NCOA3 8202 broad.mit.edu 37 20 46279860 46279860 + Silent SNP G G A rs151060280 byFrequency TCGA-ET-A2MX-01A-11D-A23M-08 TCGA-ET-A2MX-11C-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6818a84d-3c69-4a28-b435-cc24bc054277 598b09bc-2542-4146-89d3-fdbb1bbe1f60 g.chr20:46279860G>A ENST00000372004.3 + 20 3990 c.3774G>A c.(3772-3774)caG>caA p.Q1258Q NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 1262 Acetyltransferase.|Poly-Gln. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding p.Q1262Q(1) breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 agcagcagcagcagcaacagc 0.567000 4 29 0 0 1 0 0 CEP120 153241 broad.mit.edu 37 5 122717833 122717833 + Missense_Mutation SNP C C T TCGA-ET-A2MX-01A-11D-A23M-08 TCGA-ET-A2MX-11C-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6818a84d-3c69-4a28-b435-cc24bc054277 598b09bc-2542-4146-89d3-fdbb1bbe1f60 g.chr5:122717833C>T ENST00000306467.5 - 14 2379 c.2075G>A c.(2074-2076)cGa>cAa p.R692Q CEP120_ENST00000328236.5_Missense_Mutation_p.R692Q|CEP120_ENST00000306481.6_Missense_Mutation_p.R666Q Q8N960 CE120_HUMAN centrosomal protein 120kDa 692 centrosome breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 29 TTCTCTTTCTCGGTCCCTTTT 0.363000 22 27 0 0 1 0 0 STIM1 6786 broad.mit.edu 37 11 4107718 4107718 + Nonsense_Mutation SNP C C T TCGA-ET-A2MX-01A-11D-A23M-08 TCGA-ET-A2MX-11C-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6818a84d-3c69-4a28-b435-cc24bc054277 598b09bc-2542-4146-89d3-fdbb1bbe1f60 g.chr11:4107718C>T ENST00000300737.4 + 11 2055 c.1486C>T c.(1486-1488)Cag>Tag p.Q496* STIM1_ENST00000527651.1_Nonsense_Mutation_p.Q496*|STIM1_ENST00000533977.1_Nonsense_Mutation_p.Q323* NM_003156.3 NP_003147.2 Q13586 STIM1_HUMAN stromal interaction molecule 1 496 activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule calcium ion binding|microtubule plus-end binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233) BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141) CCCTAGCCTGCAGAGCAGTGT 0.587000 4 21 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49440047 49440047 + Missense_Mutation SNP C C T TCGA-ET-A2MX-01A-11D-A23M-08 TCGA-ET-A2MX-11C-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6818a84d-3c69-4a28-b435-cc24bc054277 598b09bc-2542-4146-89d3-fdbb1bbe1f60 g.chr12:49440047C>T ENST00000301067.7 - 16 4578 c.4579G>A c.(4579-4581)Gaa>Aaa p.E1527K NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D TCTCACCGTTCACAGTGGCGG 0.542000 12 18 0 0 1 0 0 ERF 2077 broad.mit.edu 37 19 42753122 42753122 + Missense_Mutation SNP G G A rs1063897 TCGA-ET-A2MX-01A-11D-A23M-08 TCGA-ET-A2MX-11C-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6818a84d-3c69-4a28-b435-cc24bc054277 598b09bc-2542-4146-89d3-fdbb1bbe1f60 g.chr19:42753122G>A ENST00000222329.4 - 4 1299 c.1142C>T c.(1141-1143)cCg>cTg p.P381L AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_Missense_Mutation_p.P306L NM_006494.2 NP_006485.2 P50548 ERF_HUMAN Ets2 repressor factor 381 P -> R (in Ref. 1; AAA86686). cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1) 17 Prostate(69;0.00682) GAGTGGGGGCGGCTGGAGCTT 0.692000 11 140 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-ET-A2MX-01A-11D-A23M-08 TCGA-ET-A2MX-11C-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6818a84d-3c69-4a28-b435-cc24bc054277 598b09bc-2542-4146-89d3-fdbb1bbe1f60 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 3 43 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100369720 100369721 + RNA INS - - T TCGA-ET-A2MX-01A-11D-A23M-08 TCGA-ET-A2MX-11C-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6818a84d-3c69-4a28-b435-cc24bc054277 598b09bc-2542-4146-89d3-fdbb1bbe1f60 g.chr7:100369720_100369721insT ENST00000542585.1 + 0 5573 ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_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) cctctaaattcttttttttttt 0.535 3 3 --- --- --- --- PATL1 219988 broad.mit.edu 37 11 59423492 59423492 + Frame_Shift_Del DEL A A - TCGA-ET-A2MX-01A-11D-A23M-08 TCGA-ET-A2MX-11C-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6818a84d-3c69-4a28-b435-cc24bc054277 598b09bc-2542-4146-89d3-fdbb1bbe1f60 g.chr11:59423492delA ENST00000300146.9 - 7 834 c.750delT c.(748-750)ttfs p.F250fs NM_152716.2 NP_689929.2 Q86TB9 PATL1_HUMAN protein associated with topoisomerase II homolog 1 (yeast) 250 Pro-rich.|Region N; interaction with decapping machinery. cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA cytoplasmic mRNA processing body protein binding|RNA binding central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2) 11 CACTAGGAGGAAAAGGGTGAC 0.438 2 4 --- --- --- --- GAS6 2621 broad.mit.edu 37 13 114542718 114542718 + Frame_Shift_Del DEL C C - TCGA-ET-A2MX-01A-11D-A23M-08 TCGA-ET-A2MX-11C-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6818a84d-3c69-4a28-b435-cc24bc054277 598b09bc-2542-4146-89d3-fdbb1bbe1f60 g.chr13:114542718delC ENST00000357389.3 - 5 601 c.449delG c.(448-450)gcfs p.G150fs GAS6_ENST00000355761.4_Frame_Shift_Del_p.G96fs|GAS6_ENST00000327773.6_Frame_Shift_Del_p.G150fs Q14393 GAS6_HUMAN growth arrest-specific 6 150 EGF-like 1; calcium-binding (Potential). cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen calcium ion binding|receptor agonist activity central_nervous_system(4)|ovary(1) 5 Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188) GCAGAGCCGGCCCCCCCAGCC 0.647 7 176 --- --- --- --- RP11-44F14.1 0 broad.mit.edu 37 16 53403272 53403273 + RNA INS - - A TCGA-ET-A2MX-01A-11D-A23M-08 TCGA-ET-A2MX-11C-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6818a84d-3c69-4a28-b435-cc24bc054277 598b09bc-2542-4146-89d3-fdbb1bbe1f60 g.chr16:53403272_53403273insA ENST00000565421.1 - 0 1344_1345 gactccatctcaaaaaaaaaag 0.436 2 4 --- --- --- --- RP11-640N20.8 0 broad.mit.edu 37 17 30415976 30415976 + RNA DEL A A - TCGA-ET-A2MX-01A-11D-A23M-08 TCGA-ET-A2MX-11C-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6818a84d-3c69-4a28-b435-cc24bc054277 598b09bc-2542-4146-89d3-fdbb1bbe1f60 g.chr17:30415976delA ENST00000581225.1 - 0 151 RP11-640N20.6_ENST00000358484.4_RNA ATTGCAGGATAAATCTCTAGG 0.264 2 4 --- --- --- --- NOTCH3 4854 broad.mit.edu 37 19 15272238 15272238 + Frame_Shift_Del DEL G G - TCGA-ET-A2MX-01A-11D-A23M-08 TCGA-ET-A2MX-11C-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6818a84d-3c69-4a28-b435-cc24bc054277 598b09bc-2542-4146-89d3-fdbb1bbe1f60 g.chr19:15272238delG ENST00000263388.2 - 33 6276 c.6201delC c.(6199-6201)ccfs p.P2067fs NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 2067 Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) ccgccTTCCCGGGGGGCCTCC 0.751 2 4 --- --- --- ---