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 PCED1A 64773 broad.mit.edu 37 20 2819730 2819730 + Splice_Site SNP T T C TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c050703-20d7-4a67-b723-9cbc4cc37a16 d5dd4291-df71-420d-b1be-6d3e725adc60 g.chr20:2819730T>C ENST00000360652.2 - 4 707 c.e4-2 PCED1A_ENST00000356872.3_Intron NM_022760.3 NP_073597.2 PC-esterase domain containing 1A CAGCTCCCCCTACCCACCCCC 0.652000 4 43 0 0 1 0 0 GZMH 2999 broad.mit.edu 37 14 25076910 25076910 + Missense_Mutation SNP C C T TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c050703-20d7-4a67-b723-9cbc4cc37a16 d5dd4291-df71-420d-b1be-6d3e725adc60 g.chr14:25076910C>T ENST00000216338.4 - 3 291 c.247G>A c.(247-249)Gag>Aag p.E83K RP11-104E19.1_ENST00000557736.1_RNA|GZMH_ENST00000382548.4_Missense_Mutation_p.E83K|GZMH_ENST00000557220.2_Intron|RP11-104E19.1_ENST00000555300.1_RNA NM_033423.3 NP_219491.1 P20718 GRAH_HUMAN granzyme H (cathepsin G-like 2, protein h-CCPX) 83 Peptidase S1. apoptosis|cytolysis|proteolysis cytoplasm serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1) 12 GBM - Glioblastoma multiforme(265;0.0267) TGGGTCCGCTCCTGTTCCTTG 0.537000 15 119 0 0 1 0 0 SPATA31D5P 347127 broad.mit.edu 37 9 84532697 84532697 + RNA SNP T T G rs145537028 by1000genomes TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c050703-20d7-4a67-b723-9cbc4cc37a16 d5dd4291-df71-420d-b1be-6d3e725adc60 g.chr9:84532697T>G ENST00000527857.1 + 0 2719 NR_026851.1 CCCAGGAGATTTCCTTCCTTA 0.438000 3 23 0 0 1 0 0 TSC1 7248 broad.mit.edu 37 9 135800990 135800990 + Missense_Mutation SNP A A G TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c050703-20d7-4a67-b723-9cbc4cc37a16 d5dd4291-df71-420d-b1be-6d3e725adc60 g.chr9:135800990A>G ENST00000298552.3 - 5 568 c.347T>C c.(346-348)tTa>tCa p.L116S TSC1_ENST00000403810.1_Missense_Mutation_p.L116S|TSC1_ENST00000545250.1_Intron|TSC1_ENST00000475903.1_5'UTR|TSC1_ENST00000440111.2_Missense_Mutation_p.L116S NM_000368.4|NM_001162426.1|NM_001162427.1 NP_000359.1|NP_001155898.1|NP_001155899.1 Q92574 TSC1_HUMAN tuberous sclerosis 1 116 activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 65 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) ACATTTTAGTAAAGAAGGCAA 0.403000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 23 27 0 0 1 0 0 TOX2 84969 broad.mit.edu 37 20 42695418 42695418 + Missense_Mutation SNP C C G TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c050703-20d7-4a67-b723-9cbc4cc37a16 d5dd4291-df71-420d-b1be-6d3e725adc60 g.chr20:42695418C>G ENST00000358131.5 + 7 1559 c.1351C>G c.(1351-1353)Cct>Gct p.P451A TOX2_ENST00000435864.2_Missense_Mutation_p.P347A|TOX2_ENST00000423191.1_Missense_Mutation_p.P427A|TOX2_ENST00000341197.3_Missense_Mutation_p.P469A|TOX2_ENST00000372999.1_Missense_Mutation_p.P427A NM_001098798.1 NP_001092268.1 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 451 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2) 26 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) ATCCTGCTCACCTGGCCCATC 0.637000 23 118 0 0 1 0 0 XIST 7503 broad.mit.edu 37 X 73072158 73072158 + RNA SNP T T C TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c050703-20d7-4a67-b723-9cbc4cc37a16 d5dd4291-df71-420d-b1be-6d3e725adc60 g.chrX:73072158T>C ENST00000429829.1 - 0 430 NR_001564.2 AAGGCAGGTATCCACGGCCCC 0.448000 6 6 0 0 1 0 0 OR13G1 441933 broad.mit.edu 37 1 247835492 247835492 + Silent SNP C C G TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c050703-20d7-4a67-b723-9cbc4cc37a16 d5dd4291-df71-420d-b1be-6d3e725adc60 g.chr1:247835492C>G ENST00000359688.2 - 1 873 c.852G>C c.(850-852)ccG>ccC p.P284P RP11-634B7.4_ENST00000449298.1_RNA NM_001005487.1 NP_001005487.1 Q8NGZ3 O13G1_HUMAN olfactory receptor, family 13, subfamily G, member 1 284 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2) 35 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TGTACACCATCGGGTTTAATG 0.438000 21 75 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228855802 228855802 + Nonsense_Mutation SNP G G A TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c050703-20d7-4a67-b723-9cbc4cc37a16 d5dd4291-df71-420d-b1be-6d3e725adc60 g.chr2:228855802G>A ENST00000392056.3 - 11 4919 c.4873C>T c.(4873-4875)Cga>Tga p.R1625* SPHKAP_ENST00000344657.5_Nonsense_Mutation_p.R1596* NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1625 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) AGAGTGGCTCGGAGCTCGGCA 0.537000 13 40 0 0 1 0 0 PPP1R35 221908 broad.mit.edu 37 7 100033016 100033016 + Silent SNP G G C TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c050703-20d7-4a67-b723-9cbc4cc37a16 d5dd4291-df71-420d-b1be-6d3e725adc60 g.chr7:100033016G>C ENST00000292330.2 - 4 919 c.729C>G c.(727-729)ctC>ctG p.L243L PPP1R35_ENST00000476185.1_5'UTR|RP11-758P17.2_ENST00000492523.1_RNA NM_145030.2 NP_659467.1 Q8TAP8 CG047_HUMAN protein phosphatase 1, regulatory subunit 35 243 TCCGGTGCATGAGGAAGGTGT 0.507000 17 50 0 0 1 0 0 FUT9 10690 broad.mit.edu 37 6 96651666 96651666 + Missense_Mutation SNP G G T TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c050703-20d7-4a67-b723-9cbc4cc37a16 d5dd4291-df71-420d-b1be-6d3e725adc60 g.chr6:96651666G>T ENST00000302103.5 + 3 961 c.635G>T c.(634-636)aGc>aTc p.S212I NM_006581.3 NP_006572.2 Q9Y231 FUT9_HUMAN fucosyltransferase 9 (alpha (1,3) fucosyltransferase) 212 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) CTAAGCAAAAGCATTGAAATC 0.378000 4 32 0.00024832 0.000259781 1 1 0 CADPS 8618 broad.mit.edu 37 3 62385096 62385096 + Silent SNP G G A TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c050703-20d7-4a67-b723-9cbc4cc37a16 d5dd4291-df71-420d-b1be-6d3e725adc60 g.chr3:62385096G>A ENST00000383710.4 - 30 4396 c.4047C>T c.(4045-4047)gaC>gaT p.D1349D CADPS_ENST00000283269.9_Silent_p.D1310D|CADPS_ENST00000357948.3_Silent_p.D1270D NM_003716.3 NP_003707.2 Q9ULU8 CAPS1_HUMAN Ca++-dependent secretion activator 1349 Mediates targeting and association with DCVs (By similarity). exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding p.D1310D(1) breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2) 92 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) CGTCTTCTTCGTCTTCCTCAT 0.493000 20 83 0 0 1 0 0 CDH7 1005 broad.mit.edu 37 18 63548012 63548012 + Missense_Mutation SNP C C G TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c050703-20d7-4a67-b723-9cbc4cc37a16 d5dd4291-df71-420d-b1be-6d3e725adc60 g.chr18:63548012C>G ENST00000397968.2 + 12 2666 c.2240C>G c.(2239-2241)tCt>tGt p.S747C CDH7_ENST00000323011.3_Missense_Mutation_p.S747C NM_004361.2 NP_004352.2 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 747 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) TCACTCAGCTCTTTAGATTCC 0.463000 9 73 0 0 1 0 0 KRT4 3851 broad.mit.edu 37 12 53207742 53207742 + Missense_Mutation SNP G G T TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c050703-20d7-4a67-b723-9cbc4cc37a16 d5dd4291-df71-420d-b1be-6d3e725adc60 g.chr12:53207742G>T ENST00000293774.4 - 1 593 c.323C>A c.(322-324)tCc>tAc p.S108Y KRT4_ENST00000458244.2_Missense_Mutation_p.S34Y|KRT4_ENST00000551956.1_Missense_Mutation_p.S34Y B4DRS2 B4DRS2_HUMAN keratin 4 34 keratin filament structural molecule activity endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2) 29 TCCAGACATGGAGACTGAGCT 0.602000 27 157 3.28513e-13 3.54585e-13 1 1 0 LRRC10 376132 broad.mit.edu 37 12 70004097 70004097 + Silent SNP G G A TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c050703-20d7-4a67-b723-9cbc4cc37a16 d5dd4291-df71-420d-b1be-6d3e725adc60 g.chr12:70004097G>A ENST00000361484.3 - 1 845 c.522C>T c.(520-522)ctC>ctT p.L174L NM_201550.2 NP_963844.2 Q5BKY1 LRC10_HUMAN leucine rich repeat containing 10 174 nucleus large_intestine(2)|lung(6) 8 all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187) Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) GGTTGCCCGAGAGCCAGATGG 0.602000 7 69 0 0 1 0 0 STAB1 23166 broad.mit.edu 37 3 52536035 52536035 + Silent SNP C C T TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c050703-20d7-4a67-b723-9cbc4cc37a16 d5dd4291-df71-420d-b1be-6d3e725adc60 g.chr3:52536035C>T ENST00000321725.6 + 4 421 c.345C>T c.(343-345)ggC>ggT p.G115G NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 115 EGF-like 1. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) GCCCTGGGGGCGCTGAGACCC 0.647000 5 40 0 0 1 0 0 SNRNP200 23020 broad.mit.edu 37 2 96964641 96964641 + Missense_Mutation SNP G G C TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c050703-20d7-4a67-b723-9cbc4cc37a16 d5dd4291-df71-420d-b1be-6d3e725adc60 g.chr2:96964641G>C ENST00000323853.5 - 7 871 c.794C>G c.(793-795)gCa>gGa p.A265G SNRNP200_ENST00000349783.5_Missense_Mutation_p.A265G NM_014014.4 NP_054733.2 O75643 U520_HUMAN small nuclear ribonucleoprotein 200kDa (U5) 265 catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1) 90 CAGCCAAAATGCATCAATATC 0.468000 16 63 0 0 1 0 0 MMP20 9313 broad.mit.edu 37 11 102465485 102465485 + Missense_Mutation SNP A A C TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c050703-20d7-4a67-b723-9cbc4cc37a16 d5dd4291-df71-420d-b1be-6d3e725adc60 g.chr11:102465485A>C ENST00000260228.2 - 7 969 c.957T>G c.(955-957)atT>atG p.I319M MMP20_ENST00000544938.1_5'UTR NM_004771.3 NP_004762.2 O60882 MMP20_HUMAN matrix metallopeptidase 20 319 Hemopexin-like 1. proteolysis|regulation of enamel mineralization extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13) BRCA - Breast invasive adenocarcinoma(274;0.0161) GTCTCCAGAAAATCCTATGGG 0.418000 5 25 0 0 1 0 0 PRSS37 136242 broad.mit.edu 37 7 141537820 141537820 + Silent SNP G G A TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c050703-20d7-4a67-b723-9cbc4cc37a16 d5dd4291-df71-420d-b1be-6d3e725adc60 g.chr7:141537820G>A ENST00000350549.3 - 3 641 c.270C>T c.(268-270)aaC>aaT p.N90N PRSS37_ENST00000438520.1_Silent_p.N90N NM_001008270.2|NM_001171951.1 NP_001008271.2|NP_001165422.1 A4D1T9 PRS37_HUMAN protease, serine, 37 90 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3) 15 TATGACTGTAGTTCCAGTAGC 0.517000 26 126 0 0 1 0 0 CDH15 1013 broad.mit.edu 37 16 89245906 89245906 + Missense_Mutation SNP G G A TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c050703-20d7-4a67-b723-9cbc4cc37a16 d5dd4291-df71-420d-b1be-6d3e725adc60 g.chr16:89245906G>A ENST00000289746.2 + 2 190 c.125G>A c.(124-126)cGc>cAc p.R42H CDH15_ENST00000521087.1_3'UTR NM_004933.2 NP_004924.1 P55291 CAD15_HUMAN cadherin 15, type 1, M-cadherin (myotubule) 42 adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane calcium ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(80;0.0261) GCCCTGAGCCGCGTGCGGAGG 0.667000 8 105 0 0 1 0 0 NME7 29922 broad.mit.edu 37 1 169267939 169267939 + Missense_Mutation SNP G G C TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c050703-20d7-4a67-b723-9cbc4cc37a16 d5dd4291-df71-420d-b1be-6d3e725adc60 g.chr1:169267939G>C ENST00000367811.3 - 6 759 c.503C>G c.(502-504)gCt>gGt p.A168G NME7_ENST00000472647.1_Missense_Mutation_p.A132G|NME7_ENST00000469474.1_5'UTR NM_013330.3 NP_037462.1 Q9Y5B8 NDK7_HUMAN NME/NM23 family member 7 168 CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process centrosome ATP binding|metal ion binding|nucleoside diphosphate kinase activity central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1) 16 all_hematologic(923;0.208) TTCACATATAGCATCATCTCT 0.408000 5 47 0 0 1 0 0 PELI3 246330 broad.mit.edu 37 11 66238754 66238754 + Missense_Mutation SNP G G A TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c050703-20d7-4a67-b723-9cbc4cc37a16 d5dd4291-df71-420d-b1be-6d3e725adc60 g.chr11:66238754G>A ENST00000349459.6 + 3 478 c.194G>A c.(193-195)cGa>cAa p.R65Q PELI3_ENST00000524466.1_Missense_Mutation_p.R89Q|PELI3_ENST00000320740.7_Missense_Mutation_p.R89Q|PELI3_ENST00000531856.1_Intron NM_001098510.1 NP_001091980.1 Q8N2H9 PELI3_HUMAN pellino E3 ubiquitin protein ligase family member 3 89 cytosol protein binding p.R89Q(1) breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1) 15 GGCCGCCGGCGAAGCCGCCTG 0.597000 20 160 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25430615 25430615 + RNA SNP G G T TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c050703-20d7-4a67-b723-9cbc4cc37a16 d5dd4291-df71-420d-b1be-6d3e725adc60 g.chr15:25430615G>T ENST00000424208.1 + 0 476 NR_003305.1 GAAGAATTGCGTTAGGCCCTT 0.587000 7 34 0.00307968 0.00312564 1 1 0 UNC5D 137970 broad.mit.edu 37 8 35542149 35542149 + Silent SNP C C A TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c050703-20d7-4a67-b723-9cbc4cc37a16 d5dd4291-df71-420d-b1be-6d3e725adc60 g.chr8:35542149C>A ENST00000453357.2 + 6 842 c.786C>A c.(784-786)cgC>cgA p.R262R UNC5D_ENST00000420357.1_Intron|UNC5D_ENST00000404895.2_Silent_p.R267R|UNC5D_ENST00000287272.2_Intron|UNC5D_ENST00000416672.1_Silent_p.R267R Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 267 TSP type-1 1. apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) GCAATGTTCGCTGTGGTAGAG 0.512000 8 80 3.09899e-07 3.29267e-07 1 1 0 ASZ1 136991 broad.mit.edu 37 7 117024807 117024807 + Silent SNP C C T rs143262073 byFrequency TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c050703-20d7-4a67-b723-9cbc4cc37a16 d5dd4291-df71-420d-b1be-6d3e725adc60 g.chr7:117024807C>T ENST00000284629.2 - 6 722 c.660G>A c.(658-660)gaG>gaA p.E220E NM_130768.2 NP_570124.1 Q8WWH4 ASZ1_HUMAN ankyrin repeat, SAM and basic leucine zipper domain containing 1 220 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body signal transducer activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1) 24 Lung NSC(10;0.00156)|all_lung(10;0.00175) STAD - Stomach adenocarcinoma(10;0.000512) TTTTTGCAATCTCACTTGGCA 0.338000 14 55 0 0 1 0 0 GCOM1 145781 broad.mit.edu 37 15 57910304 57910304 + Nonsense_Mutation SNP C C G TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c050703-20d7-4a67-b723-9cbc4cc37a16 d5dd4291-df71-420d-b1be-6d3e725adc60 g.chr15:57910304C>G ENST00000574161.1 + 3 355 c.236C>G c.(235-237)tCa>tGa p.S79* MYZAP_ENST00000267853.5_Nonsense_Mutation_p.S79*|GCOM1_ENST00000380560.2_Nonsense_Mutation_p.S79*|GCOM1_ENST00000380569.2_Nonsense_Mutation_p.S79*|GCOM1_ENST00000572390.1_Nonsense_Mutation_p.S79*|GCOM1_ENST00000380568.3_Nonsense_Mutation_p.S79*|GCOM1_ENST00000380561.2_Nonsense_Mutation_p.S79*|GCOM1_ENST00000587652.1_Nonsense_Mutation_p.S79*|MYZAP_ENST00000380565.4_Nonsense_Mutation_p.S79*|GCOM1_ENST00000396180.1_Nonsense_Mutation_p.S79*|POLR2M_ENST00000380563.2_5'UTR NM_001018100.3 NP_001018110.1 P0CAP1 GCOM1_HUMAN 79 intracellular signal transduction extrinsic to internal side of plasma membrane|I band endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1) 18 GTGCGAAGATCAGATCAAAAT 0.413000 8 52 0 0 1 0 0 FAR2 55711 broad.mit.edu 37 12 29474808 29474808 + Missense_Mutation SNP C C T TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c050703-20d7-4a67-b723-9cbc4cc37a16 d5dd4291-df71-420d-b1be-6d3e725adc60 g.chr12:29474808C>T ENST00000182377.4 + 10 1476 c.1208C>T c.(1207-1209)aCg>aTg p.T403M FAR2_ENST00000547116.1_Missense_Mutation_p.T306M|FAR2_ENST00000536681.2_Missense_Mutation_p.T403M NM_018099.3 NP_060569.3 Q96K12 FACR2_HUMAN fatty acyl CoA reductase 2 403 ether lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1) 29 GAATGGAGCACGTACAATACA 0.428000 12 58 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179459236 179459236 + Missense_Mutation SNP C C G TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c050703-20d7-4a67-b723-9cbc4cc37a16 d5dd4291-df71-420d-b1be-6d3e725adc60 g.chr2:179459236C>G ENST00000589042.1 - 296 58209 c.57985G>C c.(57985-57987)Gag>Cag p.E19329Q TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E17688Q|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E10389Q|TTN_ENST00000460472.2_Missense_Mutation_p.E10264Q|TTN_ENST00000342992.6_Missense_Mutation_p.E16761Q|TTN_ENST00000342175.6_Missense_Mutation_p.E10456Q|TTN-AS1_ENST00000456053.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 17688 Fibronectin type-III 40. 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) TGGAACTTCTCAGTCCCAATG 0.378000 12 53 0 0 1 0 0 DHX38 9785 broad.mit.edu 37 16 72141583 72141583 + Missense_Mutation SNP C C T TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c050703-20d7-4a67-b723-9cbc4cc37a16 d5dd4291-df71-420d-b1be-6d3e725adc60 g.chr16:72141583C>T ENST00000268482.3 + 21 3358 c.2849C>T c.(2848-2850)cCg>cTg p.P950L DHX38_ENST00000536867.1_Missense_Mutation_p.P262L NM_014003.3 NP_054722.2 Q92620 PRP16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 38 950 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding p.P950Q(1) endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 48 Ovarian(137;0.125) GTGGAGTTCCCGCTGGACCCT 0.572000 30 177 0 0 1 0 0 USP53 54532 broad.mit.edu 37 4 120160999 120160999 + Missense_Mutation SNP A A G TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c050703-20d7-4a67-b723-9cbc4cc37a16 d5dd4291-df71-420d-b1be-6d3e725adc60 g.chr4:120160999A>G ENST00000450251.1 + 1 629 c.85A>G c.(85-87)Acc>Gcc p.T29A USP53_ENST00000274030.6_Missense_Mutation_p.T29A Q70EK8 UBP53_HUMAN ubiquitin specific peptidase 53 29 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 27 ACTAGCCCCTACCAAAGGCTT 0.373000 7 26 0 0 1 0 0 LOC643201 643201 broad.mit.edu 37 5 175574097 175574097 + RNA SNP A A G TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c050703-20d7-4a67-b723-9cbc4cc37a16 d5dd4291-df71-420d-b1be-6d3e725adc60 g.chr5:175574097A>G ENST00000515403.1 - 0 2671 RP11-826N14.4_ENST00000510029.1_lincRNA NR_036494.1 TCTTCTCCTGAGTCCTGAATC 0.423000 2 4 0 0 1 0 0 MXRA8 54587 broad.mit.edu 37 1 1289446 1289446 + Missense_Mutation SNP C C T rs150058708 byFrequency TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c050703-20d7-4a67-b723-9cbc4cc37a16 d5dd4291-df71-420d-b1be-6d3e725adc60 g.chr1:1289446C>T ENST00000309212.6 - 8 1216 c.1186G>A c.(1186-1188)Gac>Aac p.D396N MXRA8_ENST00000342753.4_Missense_Mutation_p.D295N|MXRA8_ENST00000445648.2_Missense_Mutation_p.D396N NM_032348.2 NP_115724.1 Q9BRK3 MXRA8_HUMAN matrix-remodelling associated 8 396 integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) AGCATCTGGTCCCCTGCAGCC 0.642000 5 73 0 0 1 0 0 KIAA1841 84542 broad.mit.edu 37 2 61298781 61298781 + Missense_Mutation SNP C C T TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c050703-20d7-4a67-b723-9cbc4cc37a16 d5dd4291-df71-420d-b1be-6d3e725adc60 g.chr2:61298781C>T ENST00000402291.1 + 4 432 c.191C>T c.(190-192)tCg>tTg p.S64L KIAA1841_ENST00000356719.2_Missense_Mutation_p.S64L|KIAA1841_ENST00000453873.1_Missense_Mutation_p.S64L|KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000295031.5_Missense_Mutation_p.S64L NM_001129993.1 NP_001123465.1 Q6NSI8 K1841_HUMAN KIAA1841 64 breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 25 Epithelial(17;0.193) AGTGGAAGCTCGCCTGTTGAC 0.358000 17 61 0 0 1 0 0 KEAP1 9817 broad.mit.edu 37 19 10610133 10610133 + Nonsense_Mutation SNP G G A TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c050703-20d7-4a67-b723-9cbc4cc37a16 d5dd4291-df71-420d-b1be-6d3e725adc60 g.chr19:10610133G>A ENST00000171111.5 - 2 1124 c.577C>T c.(577-579)Cag>Tag p.Q193* KEAP1_ENST00000393623.2_Nonsense_Mutation_p.Q193*|KEAP1_ENST00000588024.1_5'UTR NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 193 BACK. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) CAGCCAATCTGCTCAGCGAAG 0.597000 11 26 0 0 1 0 0 TCERG1L 256536 broad.mit.edu 37 10 133107514 133107514 + Missense_Mutation SNP T T C TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c050703-20d7-4a67-b723-9cbc4cc37a16 d5dd4291-df71-420d-b1be-6d3e725adc60 g.chr10:133107514T>C ENST00000368642.4 - 2 476 c.391A>G c.(391-393)Aca>Gca p.T131A NM_174937.3 NP_777597.2 Q5VWI1 TCRGL_HUMAN transcription elongation regulator 1-like 131 cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09) all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276) AGCTCCACTGTGGAAGAGGGG 0.527000 6 52 0 0 1 0 0 SH3D19 152503 broad.mit.edu 37 4 152070686 152070686 + Missense_Mutation SNP C C G TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c050703-20d7-4a67-b723-9cbc4cc37a16 d5dd4291-df71-420d-b1be-6d3e725adc60 g.chr4:152070686C>G ENST00000409598.4 - 10 2110 c.943G>C c.(943-945)Ggt>Cgt p.G315R SH3D19_ENST00000304527.4_Missense_Mutation_p.G315R|SH3D19_ENST00000427414.2_Missense_Mutation_p.G279R|SH3D19_ENST00000455740.1_Missense_Mutation_p.G315R|SH3D19_ENST00000409252.2_Missense_Mutation_p.G315R|SH3D19_ENST00000424281.1_Missense_Mutation_p.G279R|SH3D19_ENST00000514152.1_Missense_Mutation_p.G315R Q5HYK7 SH319_HUMAN SH3 domain containing 19 315 Pro-rich. cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport cytosol|Golgi apparatus|nucleus|plasma membrane proline-rich region binding autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1) 20 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.138) CGCACAAAACCTCCTGTTTGA 0.413000 6 50 0 0 1 0 0 SDHAP3 728609 broad.mit.edu 37 5 1593326 1593326 + RNA SNP G G A rs6872202 by1000genomes TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c050703-20d7-4a67-b723-9cbc4cc37a16 d5dd4291-df71-420d-b1be-6d3e725adc60 g.chr5:1593326G>A ENST00000436493.2 - 0 299 ACCATGTACCGAGGCACAGGC 0.582000 4 51 0 0 1 0 0 RAF1 5894 broad.mit.edu 37 3 12645699 12645699 + Missense_Mutation SNP G G A rs80338796 TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c050703-20d7-4a67-b723-9cbc4cc37a16 d5dd4291-df71-420d-b1be-6d3e725adc60 g.chr3:12645699G>A ENST00000251849.4 - 7 1209 c.770C>T c.(769-771)tCg>tTg p.S257L RAF1_ENST00000442415.2_Missense_Mutation_p.S257L|RAF1_ENST00000542177.1_Missense_Mutation_p.S176L|RAF1_ENST00000534997.1_Missense_Mutation_p.S42L NM_002880.3 NP_002871.1 P04049 RAF1_HUMAN v-raf-1 murine leukemia viral oncogene homolog 1 257 S -> L (in NS5 and LEOPARD2; shows in vitro greater kinase activity and enhanced ERK activation than wild-type). activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission cytosol|mitochondrial outer membrane|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity p.S257L(3)|p.S257W(1) ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6) biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 32 Sorafenib(DB00398) TGTGGATGTCGACCTCTGCCT 0.527000 T SRGAP3 pilocytic astrocytoma Noonan syndrome 16 47 0 0 1 0 0 FHL2 2274 broad.mit.edu 37 2 105990143 105990143 + Silent SNP G G A TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c050703-20d7-4a67-b723-9cbc4cc37a16 d5dd4291-df71-420d-b1be-6d3e725adc60 g.chr2:105990143G>A ENST00000409177.1 - 3 673 c.552C>T c.(550-552)tgC>tgT p.C184C AC012360.6_ENST00000457290.2_RNA|FHL2_ENST00000322142.8_Silent_p.C68C|FHL2_ENST00000336660.5_Intron|FHL2_ENST00000393353.3_Silent_p.C68C|FHL2_ENST00000408995.1_Silent_p.C68C|FHL2_ENST00000409807.1_Silent_p.C68C|FHL2_ENST00000393352.3_Silent_p.C68C|FHL2_ENST00000344213.4_Silent_p.C178C|FHL2_ENST00000358129.4_Silent_p.C68C Q14192 FHL2_HUMAN four and a half LIM domains 2 68 LIM zinc-binding 3. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent actin cytoskeleton|focal adhesion|nucleus androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 9 TGCACTGCGAGCAGTGGAAAC 0.562000 11 38 0 0 1 0 0 ADAM2 2515 broad.mit.edu 37 8 39624673 39624673 + Splice_Site SNP A A G TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c050703-20d7-4a67-b723-9cbc4cc37a16 d5dd4291-df71-420d-b1be-6d3e725adc60 g.chr8:39624673A>G ENST00000265708.4 - 13 1413 c.1311_splice c.e13+1 p.L437_splice ADAM2_ENST00000347580.4_Splice_Site_p.L418_splice|ADAM2_ENST00000379853.2_Splice_Site_p.L311_splice|ADAM2_ENST00000521880.1_Splice_Site_p.L437_splice NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 437 Disintegrin. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) AGCTCTTACTAGACAGTTTTC 0.348000 6 102 0 0 1 0 0 PHLDA3 23612 broad.mit.edu 37 1 201437845 201437845 + Nonsense_Mutation SNP G G A TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c050703-20d7-4a67-b723-9cbc4cc37a16 d5dd4291-df71-420d-b1be-6d3e725adc60 g.chr1:201437845G>A ENST00000367311.3 - 1 467 c.70C>T c.(70-72)Cag>Tag p.Q24* PHLDA3_ENST00000367309.1_Nonsense_Mutation_p.Q24* NM_012396.3 NP_036528.1 Q9Y5J5 PHLA3_HUMAN pleckstrin homology-like domain, family A, member 3 24 PH. anatomical structure morphogenesis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of protein kinase B signaling cascade cytoplasm|intracellular membrane-bounded organelle|plasma membrane identical protein binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-5-phosphate binding lung(1)|prostate(1) 2 TTCCACAGCTGCAGCAGCCCG 0.721000 7 29 0 0 1 0 0 ZC3H10 84872 broad.mit.edu 37 12 56514721 56514721 + Silent SNP T T C TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c050703-20d7-4a67-b723-9cbc4cc37a16 d5dd4291-df71-420d-b1be-6d3e725adc60 g.chr12:56514721T>C ENST00000257940.2 + 3 651 c.375T>C c.(373-375)ctT>ctC p.L125L RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA NM_032786.1 NP_116175.1 Q96K80 ZC3HA_HUMAN zinc finger CCCH-type containing 10 125 nucleic acid binding|zinc ion binding breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1) 11 OV - Ovarian serous cystadenocarcinoma(18;0.12) GCCTTGGCCTTTCACCGGCTG 0.562000 17 54 0 0 1 0 0 REG1B 5968 broad.mit.edu 37 2 79313557 79313557 + Missense_Mutation SNP G G A TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c050703-20d7-4a67-b723-9cbc4cc37a16 d5dd4291-df71-420d-b1be-6d3e725adc60 g.chr2:79313557G>A ENST00000305089.3 - 4 337 c.257C>T c.(256-258)tCa>tTa p.S86L NM_006507.3 NP_006498.1 P48304 REG1B_HUMAN regenerating islet-derived 1 beta 86 C-type lectin. cell proliferation extracellular region sugar binding central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 51 CTTAATCAGTGAGGCCACGAA 0.498000 12 60 0 0 1 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45128685 45128685 + RNA SNP T T C rs145089594 by1000genomes TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c050703-20d7-4a67-b723-9cbc4cc37a16 d5dd4291-df71-420d-b1be-6d3e725adc60 g.chr17:45128685T>C ENST00000575173.1 - 0 418 TTCCAGGATATGGCTATACTG 0.303000 5 82 0 0 1 0 0 PCK1 5105 broad.mit.edu 37 20 56137915 56137915 + Silent SNP C C T TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c050703-20d7-4a67-b723-9cbc4cc37a16 d5dd4291-df71-420d-b1be-6d3e725adc60 g.chr20:56137915C>T ENST00000319441.4 + 4 734 c.570C>T c.(568-570)gtC>gtT p.V190V PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Silent_p.V58V NM_002591.3 NP_002582.3 P35558 PCKGC_HUMAN phosphoenolpyruvate carboxykinase 1 (soluble) 190 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 34 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) GGGAGTTTGTCAAATGCCTCC 0.512000 13 38 0 0 1 0 0 HIST1H3I 8354 broad.mit.edu 37 6 27839923 27839923 + Missense_Mutation SNP C C G TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c050703-20d7-4a67-b723-9cbc4cc37a16 d5dd4291-df71-420d-b1be-6d3e725adc60 g.chr6:27839923C>G ENST00000328488.2 - 1 176 c.171G>C c.(169-171)aaG>aaC p.K57N NM_003533.2 NP_003524.1 P68431 H31_HUMAN histone cluster 1, H3i 57 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 GCTCGGTCGACTTCTGGTAGC 0.652000 15 112 0 0 1 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121650424 121650424 + Missense_Mutation SNP A A T TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c050703-20d7-4a67-b723-9cbc4cc37a16 d5dd4291-df71-420d-b1be-6d3e725adc60 g.chr7:121650424A>T ENST00000393386.2 + 12 1735 c.1324A>T c.(1324-1326)Att>Ttt p.I442F PTPRZ1_ENST00000449182.1_Missense_Mutation_p.I442F NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 442 central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 AGAAGGCGCTATTGTGAATCC 0.378000 11 57 0 0 1 0 0 LAPTM4B 55353 broad.mit.edu 37 8 98863681 98863681 + Silent SNP G G A TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c050703-20d7-4a67-b723-9cbc4cc37a16 d5dd4291-df71-420d-b1be-6d3e725adc60 g.chr8:98863681G>A ENST00000445593.2 + 7 1613 c.933G>A c.(931-933)ccG>ccA p.P311P LAPTM4B_ENST00000521545.2_Silent_p.P220P NM_018407.4 NP_060877.3 Q86VI4 LAP4B_HUMAN lysosomal protein transmembrane 4 beta 364 transport endomembrane system|integral to membrane protein binding p.P311P(1) breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1) 10 Breast(36;1.59e-06) OV - Ovarian serous cystadenocarcinoma(57;0.149) AGGAGCCACCGCCACCTTACG 0.517000 4 50 0 0 1 0 0 MICALL2 79778 broad.mit.edu 37 7 1482021 1482021 + Silent SNP C C A rs146147189 TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c050703-20d7-4a67-b723-9cbc4cc37a16 d5dd4291-df71-420d-b1be-6d3e725adc60 g.chr7:1482021C>A ENST00000297508.7 - 7 1693 c.1518G>T c.(1516-1518)cgG>cgT p.R506R MICALL2_ENST00000405088.4_Silent_p.R294R NM_182924.3 NP_891554.1 Q8IY33 MILK2_HUMAN MICAL-like 2 506 cytoplasm|cytoskeleton zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2) 19 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15) GGCCAAGCACCCGGGGAGACG 0.642000 32 150 7.11191e-15 7.80016e-15 1 1 0 OBSCN 84033 broad.mit.edu 37 1 228459861 228459861 + Silent SNP C C T TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c050703-20d7-4a67-b723-9cbc4cc37a16 d5dd4291-df71-420d-b1be-6d3e725adc60 g.chr1:228459861C>T ENST00000570156.2 + 20 5999 c.5925C>T c.(5923-5925)gaC>gaT p.D1975D RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000359599.6_Silent_p.D447D NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 956 Ig-like 19. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GCCAGGCGGACGCCGGGGAGT 0.647000 14 49 0 0 1 0 0 IRX2 153572 broad.mit.edu 37 5 2748509 2748509 + Missense_Mutation SNP G G A TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c050703-20d7-4a67-b723-9cbc4cc37a16 d5dd4291-df71-420d-b1be-6d3e725adc60 g.chr5:2748509G>A ENST00000382611.6 - 3 1561 c.1313C>T c.(1312-1314)cCg>cTg p.P438L IRX2_ENST00000302057.5_Missense_Mutation_p.P438L NM_001134222.1 NP_001127694.1 Q9BZI1 IRX2_HUMAN iroquois homeobox 2 438 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2) 26 GBM - Glioblastoma multiforme(108;0.204) GGACTCGAGCGGGTGCGCGCC 0.781000 3 3 0 0 1 0 0 GIT2 9815 broad.mit.edu 37 12 110385177 110385177 + Missense_Mutation SNP C C T TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c050703-20d7-4a67-b723-9cbc4cc37a16 d5dd4291-df71-420d-b1be-6d3e725adc60 g.chr12:110385177C>T ENST00000360185.4 - 14 1539 c.1375G>A c.(1375-1377)Ggc>Agc p.G459S GIT2_ENST00000338373.5_Intron|GIT2_ENST00000354574.4_Missense_Mutation_p.G461S|GIT2_ENST00000551209.1_Missense_Mutation_p.G458S|GIT2_ENST00000355312.3_Missense_Mutation_p.G509S|GIT2_ENST00000356259.4_Intron|GIT2_ENST00000457474.2_Missense_Mutation_p.G461S|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000547815.1_3'UTR|GIT2_ENST00000553118.1_Intron|GIT2_ENST00000343646.5_Missense_Mutation_p.G429S|GIT2_ENST00000361006.5_Missense_Mutation_p.G509S Q14161 GIT2_HUMAN G protein-coupled receptor kinase interacting ArfGAP 2 509 regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway nucleoplasm ARF GTPase activator activity|protein binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4) 27 GGCCTACTGCCCCGGGCAGAC 0.537000 12 68 0 0 1 0 0 PIK3CD 5293 broad.mit.edu 37 1 9781597 9781597 + Missense_Mutation SNP G G C TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c050703-20d7-4a67-b723-9cbc4cc37a16 d5dd4291-df71-420d-b1be-6d3e725adc60 g.chr1:9781597G>C ENST00000536656.1 + 15 2187 c.1979G>C c.(1978-1980)cGg>cCg p.R660P PIK3CD_ENST00000361110.2_Missense_Mutation_p.R660P|PIK3CD_ENST00000377346.4_Missense_Mutation_p.R636P|PIK3CD_ENST00000543390.1_Missense_Mutation_p.R303P O00329 PK3CD_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta 636 phosphatidylinositol-mediated signaling|protein phosphorylation phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 all_lung(157;0.222) all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419) CTGCTGGACCGGGCCCTGGCC 0.617000 OREG0013082 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 56 0 0 1 0 0 PCDH10 57575 broad.mit.edu 37 4 134073569 134073571 + In_Frame_Del DEL CTG CTG - TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c050703-20d7-4a67-b723-9cbc4cc37a16 d5dd4291-df71-420d-b1be-6d3e725adc60 g.chr4:134073569_134073571delCTG ENST00000264360.4 + 1 3100_3102 c.2274_2276delCTG c.(2272-2277)ctc>ct p.LC758del NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 758 Cys-rich. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) ATTGCTGCCTCTGCTGCTGCTGC 0.581 7 68 --- --- --- --- STK11 6794 broad.mit.edu 37 19 1220615 1220616 + Frame_Shift_Del DEL GA GA - TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c050703-20d7-4a67-b723-9cbc4cc37a16 d5dd4291-df71-420d-b1be-6d3e725adc60 g.chr19:1220615_1220616delGA ENST00000326873.7 + 5 1806_1807 c.633_634delGA c.(631-636)cgccfs p.RT211fs NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 211 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.?(2)|p.T212fs*75(1) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) ACACCTGCCGGACCAGCCAGGG 0.723 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 6 8 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11085863 11085864 + RNA INS - - C TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c050703-20d7-4a67-b723-9cbc4cc37a16 d5dd4291-df71-420d-b1be-6d3e725adc60 g.chr21:11085863_11085864insC ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) catcaccaccaccaccatcacc 0.579 3 4 --- --- --- --- CYP2D7 1564 broad.mit.edu 37 22 42537119 42537120 + RNA INS - - A rs142656198 by1000genomes TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c050703-20d7-4a67-b723-9cbc4cc37a16 d5dd4291-df71-420d-b1be-6d3e725adc60 g.chr22:42537119_42537120insA ENST00000435101.1 - 0 296 CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000358097.4_RNA endometrium(1) 1 GGGCTACCACCGGGGCTGATGC 0.614 2 4 --- --- --- ---