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 TRIM24 8805 broad.mit.edu 37 7 138263957 138263957 + Silent SNP T T C TCGA-RY-A840-01A-11D-A36O-08 TCGA-RY-A840-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91848fc-8730-434f-acab-791488ffe5eb 2a99e03f-024c-4750-81e0-7bcf3014ef3c g.chr7:138263957T>C ENST00000343526.4 + 15 2480 c.2265T>C c.(2263-2265)taT>taC p.Y755Y TRIM24_ENST00000415680.2_Silent_p.Y721Y O15164 TIF1A_HUMAN tripartite motif containing 24 755 Nuclear receptor binding site (NRBS). cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter cytoplasm chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 40 AGGCCAATTATCCAAGAAGCA 0.398000 37 47 0 0 1 0 0 ACSM2B 348158 broad.mit.edu 37 16 20576155 20576155 + Nonsense_Mutation SNP G G A TCGA-RY-A840-01A-11D-A36O-08 TCGA-RY-A840-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91848fc-8730-434f-acab-791488ffe5eb 2a99e03f-024c-4750-81e0-7bcf3014ef3c g.chr16:20576155G>A ENST00000329697.6 - 2 181 c.13C>T c.(13-15)Cga>Tga p.R5* ACSM2B_ENST00000565322.1_Intron|ACSM2B_ENST00000567001.1_Nonsense_Mutation_p.R5*|ACSM2B_ENST00000565232.1_Nonsense_Mutation_p.R5*|ACSM2B_ENST00000414188.2_Nonsense_Mutation_p.R5* NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 5 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding p.R5*(1) breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 TGAACTTTTCGCAGCCAATGC 0.493000 31 27 0 0 1 0 0 CCDC106 29903 broad.mit.edu 37 19 56160918 56160918 + Missense_Mutation SNP A A C TCGA-RY-A840-01A-11D-A36O-08 TCGA-RY-A840-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91848fc-8730-434f-acab-791488ffe5eb 2a99e03f-024c-4750-81e0-7bcf3014ef3c g.chr19:56160918A>C ENST00000586790.1 + 3 1185 c.281A>C c.(280-282)gAc>gCc p.D94A CCDC106_ENST00000591578.1_Missense_Mutation_p.D94A|CCDC106_ENST00000591241.1_Missense_Mutation_p.D59A|CCDC106_ENST00000308964.3_Missense_Mutation_p.D94A|CCDC106_ENST00000588740.1_Missense_Mutation_p.D94A Q9BWC9 CC106_HUMAN coiled-coil domain containing 106 94 nucleus endometrium(2)|large_intestine(3)|lung(5)|skin(1) 11 Colorectal(82;0.00403)|Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.105) TGCCAGCTGGACAAATTCATC 0.602000 10 3 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-RY-A840-01A-11D-A36O-08 TCGA-RY-A840-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91848fc-8730-434f-acab-791488ffe5eb 2a99e03f-024c-4750-81e0-7bcf3014ef3c g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 5 50 0 0 1 0 0 COL13A1 1305 broad.mit.edu 37 10 71690264 71690264 + Missense_Mutation SNP G G A TCGA-RY-A840-01A-11D-A36O-08 TCGA-RY-A840-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91848fc-8730-434f-acab-791488ffe5eb 2a99e03f-024c-4750-81e0-7bcf3014ef3c g.chr10:71690264G>A ENST00000356340.3 + 28 2142 c.1606G>A c.(1606-1608)Gga>Aga p.G536R COL13A1_ENST00000522165.1_Missense_Mutation_p.G517R|COL13A1_ENST00000357811.3_Missense_Mutation_p.G514R|COL13A1_ENST00000398969.3_Missense_Mutation_p.G479R|COL13A1_ENST00000398974.3_Missense_Mutation_p.G524R|COL13A1_ENST00000354547.3_Missense_Mutation_p.G514R|COL13A1_ENST00000520133.1_Missense_Mutation_p.G485R|COL13A1_ENST00000398968.3_Missense_Mutation_p.G517R|COL13A1_ENST00000398978.3_Missense_Mutation_p.G536R|COL13A1_ENST00000517713.1_Missense_Mutation_p.G514R|COL13A1_ENST00000398966.3_Missense_Mutation_p.G514R|COL13A1_ENST00000398964.3_Missense_Mutation_p.G507R|COL13A1_ENST00000520267.1_Missense_Mutation_p.G479R|COL13A1_ENST00000398973.3_Missense_Mutation_p.G536R|COL13A1_ENST00000398972.3_Missense_Mutation_p.G536R|COL13A1_ENST00000398971.3_Missense_Mutation_p.G536R Q5TAT6 CODA1_HUMAN collagen, type XIII, alpha 1 536 Triple-helical region 3 (COL3). cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure collagen type XIII|integral to membrane extracellular matrix structural constituent|heparin binding|protein binding endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 28 Atorvastatin(DB01076)|Simvastatin(DB00641) AGGGAGCCCAGGAGAGAAGGG 0.632000 14 11 0 0 1 0 0 KRTAP10-8 386681 broad.mit.edu 37 21 46032420 46032420 + Missense_Mutation SNP G G C rs143687357 TCGA-RY-A840-01A-11D-A36O-08 TCGA-RY-A840-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91848fc-8730-434f-acab-791488ffe5eb 2a99e03f-024c-4750-81e0-7bcf3014ef3c g.chr21:46032420G>C ENST00000334662.2 + 1 425 c.403G>C c.(403-405)Gtg>Ctg p.V135L TSPEAR_ENST00000323084.4_Intron NM_198695.2 NP_941968.2 P60410 KR108_HUMAN keratin associated protein 10-8 135 19 X 5 AA repeats of C-C-X(3). keratin filament breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 17 CGTGTGCTGCGTGTCCATCTG 0.632000 79 102 0 0 1 0 0 GML 2765 broad.mit.edu 37 8 143922564 143922564 + Missense_Mutation SNP C C T rs138790796 by1000genomes TCGA-RY-A840-01A-11D-A36O-08 TCGA-RY-A840-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91848fc-8730-434f-acab-791488ffe5eb 2a99e03f-024c-4750-81e0-7bcf3014ef3c g.chr8:143922564C>T ENST00000220940.1 + 3 194 c.104C>T c.(103-105)gCg>gTg p.A35V NM_002066.2 NP_002057.1 Q99445 GML_HUMAN glycosylphosphatidylinositol anchored molecule like 35 UPAR/Ly6. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation anchored to membrane|extrinsic to membrane|plasma membrane NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8) 18 all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) CATGACTGTGCGGTCATAAAT 0.463000 4 130 0 0 1 0 0 FAM65C 140876 broad.mit.edu 37 20 49236599 49236599 + Missense_Mutation SNP G G A rs148432777 TCGA-RY-A840-01A-11D-A36O-08 TCGA-RY-A840-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91848fc-8730-434f-acab-791488ffe5eb 2a99e03f-024c-4750-81e0-7bcf3014ef3c g.chr20:49236599G>A ENST00000327979.2 - 3 592 c.181C>T c.(181-183)Cgg>Tgg p.R61W FAM65C_ENST00000045083.2_Missense_Mutation_p.R61W|FAM65C_ENST00000535356.1_Missense_Mutation_p.R65W Q96MK2 FA65C_HUMAN family with sequence similarity 65, member C 61 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GACCCCTTCCGCAGCGTGCCG 0.547000 56 59 0 0 1 0 0 STX3 6809 broad.mit.edu 37 11 59564807 59564807 + Silent SNP T T C TCGA-RY-A840-01A-11D-A36O-08 TCGA-RY-A840-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91848fc-8730-434f-acab-791488ffe5eb 2a99e03f-024c-4750-81e0-7bcf3014ef3c g.chr11:59564807T>C ENST00000535361.1 + 9 1274 c.727T>C c.(727-729)Ttg>Ctg p.L243L STX3_ENST00000337979.4_Silent_p.L280L|STX3_ENST00000529177.1_Intron|STX3_ENST00000437946.2_Intron|STX3_ENST00000300150.7_Silent_p.L249L Q13277 STX3_HUMAN syntaxin 3 280 t-SNARE coiled-coil homology. cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule arachidonic acid binding|SNAP receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1) 13 CATTTTAGCATTGATTATTGG 0.388000 8 81 0 0 1 0 0 CPAMD8 27151 broad.mit.edu 37 19 17015311 17015311 + Missense_Mutation SNP G G A TCGA-RY-A840-01A-11D-A36O-08 TCGA-RY-A840-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91848fc-8730-434f-acab-791488ffe5eb 2a99e03f-024c-4750-81e0-7bcf3014ef3c g.chr19:17015311G>A ENST00000443236.1 - 31 4251 c.4220C>T c.(4219-4221)aCa>aTa p.T1407I NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 1360 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 GCTCAAGAATGTGCCCTTGTC 0.582000 25 36 0 0 1 0 0 SCAMP3 10067 broad.mit.edu 37 1 155226515 155226515 + Missense_Mutation SNP C C T TCGA-RY-A840-01A-11D-A36O-08 TCGA-RY-A840-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91848fc-8730-434f-acab-791488ffe5eb 2a99e03f-024c-4750-81e0-7bcf3014ef3c g.chr1:155226515C>T ENST00000355379.3 - 7 1047 c.769G>A c.(769-771)Gcc>Acc p.A257T SCAMP3_ENST00000302631.3_Missense_Mutation_p.A283T|SCAMP3_ENST00000472397.1_5'UTR NM_052837.2 NP_443069.1 O14828 SCAM3_HUMAN secretory carrier membrane protein 3 283 post-Golgi vesicle-mediated transport|protein transport integral to membrane breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1) 19 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) AAGAGCAGGGCGACCAGCAGC 0.582000 16 30 0 0 1 0 0 NEDD8 4738 broad.mit.edu 37 14 24687634 24687634 + Silent SNP G G A TCGA-RY-A840-01A-11D-A36O-08 TCGA-RY-A840-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91848fc-8730-434f-acab-791488ffe5eb 2a99e03f-024c-4750-81e0-7bcf3014ef3c g.chr14:24687634G>A ENST00000250495.5 - 2 208 c.22C>T c.(22-24)Ctg>Ttg p.L8L NEDD8_ENST00000524927.1_Silent_p.L8L|NEDD8-MDP1_ENST00000604306.1_5'UTR|NEDD8-MDP1_ENST00000534348.1_Silent_p.L8L NM_006156.2 NP_006147.1 neural precursor cell expressed, developmentally down-regulated 8 breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2) 5 GBM - Glioblastoma multiforme(265;0.0186) TTTCCGGTCAGCGTCTGAAAC 0.423000 3 23 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-RY-A840-01A-11D-A36O-08 TCGA-RY-A840-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91848fc-8730-434f-acab-791488ffe5eb 2a99e03f-024c-4750-81e0-7bcf3014ef3c 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 27 59 0 0 1 0 0 FGD2 221472 broad.mit.edu 37 6 36989372 36989372 + Missense_Mutation SNP G G A TCGA-RY-A840-01A-11D-A36O-08 TCGA-RY-A840-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91848fc-8730-434f-acab-791488ffe5eb 2a99e03f-024c-4750-81e0-7bcf3014ef3c g.chr6:36989372G>A ENST00000274963.8 + 12 1489 c.1318G>A c.(1318-1320)Gag>Aag p.E440K NM_173558.3 NP_775829.2 Q7Z6J4 FGD2_HUMAN FYVE, RhoGEF and PH domain containing 2 440 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 25 AGACATCCAGGAGCAGGAGGT 0.557000 OREG0017395 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 9 0 0 1 0 0 ANO7 50636 broad.mit.edu 37 2 242135327 242135327 + Missense_Mutation SNP G G A TCGA-RY-A840-01A-11D-A36O-08 TCGA-RY-A840-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91848fc-8730-434f-acab-791488ffe5eb 2a99e03f-024c-4750-81e0-7bcf3014ef3c g.chr2:242135327G>A ENST00000402530.3 + 4 638 c.535G>A c.(535-537)Gca>Aca p.A179T ANO7_ENST00000402430.3_Intron|ANO7_ENST00000274979.8_Intron NM_001001666.3 NP_001001666.1 Q6IWH7 ANO7_HUMAN anoctamin 7 0 cell junction|chloride channel complex|cytosol chloride channel activity NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 32 TGACCTTGCCGCATGAGGCCT 0.632000 12 15 0 0 1 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261693 39261693 + Missense_Mutation SNP A A T rs113059833 by1000genomes TCGA-RY-A840-01A-11D-A36O-08 TCGA-RY-A840-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91848fc-8730-434f-acab-791488ffe5eb 2a99e03f-024c-4750-81e0-7bcf3014ef3c g.chr17:39261693A>T ENST00000391415.1 + 1 110 c.53A>T c.(52-54)gAc>gTc p.D18V NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 18 keratin filament p.D18V(1) central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 TGCGGCCAAGACCTCTGTCAG 0.627000 5 31 0 0 1 0 0 TNFAIP8 25816 broad.mit.edu 37 5 118728917 118728917 + Silent SNP C C T TCGA-RY-A840-01A-11D-A36O-08 TCGA-RY-A840-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91848fc-8730-434f-acab-791488ffe5eb 2a99e03f-024c-4750-81e0-7bcf3014ef3c g.chr5:118728917C>T ENST00000504771.2 + 2 2215 c.438C>T c.(436-438)caC>caT p.H146H TNFAIP8_ENST00000274456.6_Silent_p.H136H|TNFAIP8_ENST00000504642.1_Silent_p.H148H|TNFAIP8_ENST00000503646.1_Silent_p.H146H|TNFAIP8_ENST00000415806.2_3'UTR|TNFAIP8_ENST00000513374.1_Silent_p.H158H NM_014350.2 NP_055165.2 O95379 TFIP8_HUMAN tumor necrosis factor, alpha-induced protein 8 146 anti-apoptosis|apoptosis|negative regulation of anti-apoptosis cytoplasm caspase inhibitor activity|protein binding ovary(1) 1 all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231) Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829) TTCAGCGCCACCTCACTGCCA 0.408000 34 57 0 0 1 0 0 ZNF733P 0 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-RY-A840-01A-11D-A36O-08 TCGA-RY-A840-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91848fc-8730-434f-acab-791488ffe5eb 2a99e03f-024c-4750-81e0-7bcf3014ef3c g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 7 23 0 0 1 0 0 CDH4 1002 broad.mit.edu 37 20 60427938 60427938 + Silent SNP C C T rs146532439 byFrequency TCGA-RY-A840-01A-11D-A36O-08 TCGA-RY-A840-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91848fc-8730-434f-acab-791488ffe5eb 2a99e03f-024c-4750-81e0-7bcf3014ef3c g.chr20:60427938C>T ENST00000360469.5 + 6 949 c.861C>T c.(859-861)gaC>gaT p.D287D CDH4_ENST00000543233.1_Silent_p.D213D NM_001794.3 NP_001785.2 P55283 CADH4_HUMAN cadherin 4, type 1, R-cadherin (retinal) 287 Cadherin 2. adherens junction organization|cell junction assembly calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) GCTCCGTGGACGAGGGCTCCA 0.597000 43 86 0 0 1 0 0 FCRL2 79368 broad.mit.edu 37 1 157737385 157737385 + Silent SNP C C T TCGA-RY-A840-01A-11D-A36O-08 TCGA-RY-A840-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91848fc-8730-434f-acab-791488ffe5eb 2a99e03f-024c-4750-81e0-7bcf3014ef3c g.chr1:157737385C>T ENST00000469986.1 - 1 179 c.39G>A c.(37-39)agG>agA p.R13R FCRL2_ENST00000392274.3_Intron|FCRL2_ENST00000361516.3_Intron|FCRL2_ENST00000368181.4_Intron Q96LA5 FCRL2_HUMAN Fc receptor-like 2 0 cell-cell signaling integral to membrane|plasma membrane|soluble fraction receptor activity|SH3/SH2 adaptor activity central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2) 51 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CAGCAAAGGGCCTGGCCCCAT 0.448000 47 39 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72821618 72821618 + Silent SNP A A G rs112443847 TCGA-RY-A840-01A-11D-A36O-08 TCGA-RY-A840-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91848fc-8730-434f-acab-791488ffe5eb 2a99e03f-024c-4750-81e0-7bcf3014ef3c g.chr16:72821618A>G ENST00000268489.5 - 10 11229 c.10557T>C c.(10555-10557)ggT>ggC p.G3519G AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2605G NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3519 Poly-Gly. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.G3519G(3) NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) cgccgccgccaccgccgccgc 0.716000 3 38 0 0 1 0 0 FAM3B 54097 broad.mit.edu 37 21 42694893 42694893 + Silent SNP C C G TCGA-RY-A840-01A-11D-A36O-08 TCGA-RY-A840-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91848fc-8730-434f-acab-791488ffe5eb 2a99e03f-024c-4750-81e0-7bcf3014ef3c g.chr21:42694893C>G ENST00000398652.3 + 3 246 c.180C>G c.(178-180)gcC>gcG p.A60A FAM3B_ENST00000398647.3_Intron|FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000398646.3_Silent_p.A44A|FAM3B_ENST00000357985.2_Silent_p.A21A P58499 FAM3B_HUMAN family with sequence similarity 3, member B 21 apoptosis|insulin secretion extracellular space cytokine activity central_nervous_system(2)|endometrium(1)|lung(2) 5 Prostate(19;1.57e-07)|all_epithelial(19;0.0404) CCTTGTGTGCCTGGTATTCGG 0.607000 35 36 0 0 1 0 0 GRIN1 2902 broad.mit.edu 37 9 140062230 140062230 + Missense_Mutation SNP A A G TCGA-RY-A840-01A-11D-A36O-08 TCGA-RY-A840-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91848fc-8730-434f-acab-791488ffe5eb 2a99e03f-024c-4750-81e0-7bcf3014ef3c g.chr9:140062230A>G ENST00000315048.3 + 20 3802 c.2705A>G c.(2704-2706)tAc>tGc p.Y902C GRIN1_ENST00000371553.3_Missense_Mutation_p.Y923C|GRIN1_ENST00000371555.4_3'UTR|GRIN1_ENST00000371550.4_3'UTR|GRIN1_ENST00000371560.3_Missense_Mutation_p.Y886C|GRIN1_ENST00000371561.3_3'UTR|GRIN1_ENST00000371559.4_Missense_Mutation_p.Y865C|GRIN1_ENST00000371546.4_3'UTR Q05586 NMDZ1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 1 0 ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095) L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) TTGCAGCAGTACCATCCCACT 0.682000 3 39 0 0 1 0 0 HLA-V 0 broad.mit.edu 37 6 29761676 29761676 + RNA SNP C C G TCGA-RY-A840-01A-11D-A36O-08 TCGA-RY-A840-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91848fc-8730-434f-acab-791488ffe5eb 2a99e03f-024c-4750-81e0-7bcf3014ef3c g.chr6:29761676C>G ENST00000457107.1 + 0 902 gagagggtttcatattcaaga 0.493000 3 20 0 0 1 0 0 LRRK1 79705 broad.mit.edu 37 15 101528897 101528897 + Silent SNP G G A TCGA-RY-A840-01A-11D-A36O-08 TCGA-RY-A840-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91848fc-8730-434f-acab-791488ffe5eb 2a99e03f-024c-4750-81e0-7bcf3014ef3c g.chr15:101528897G>A ENST00000284395.5 + 6 883 c.483G>A c.(481-483)ggG>ggA p.G161G LRRK1_ENST00000388948.3_Silent_p.G164G|LRRK1_ENST00000532029.2_Silent_p.G164G Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 164 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GCCAGCGAGGGCACCTGGGGG 0.627000 56 57 0 0 1 0 0 LCP1 3936 broad.mit.edu 37 13 46717525 46717525 + Missense_Mutation SNP G G A TCGA-RY-A840-01A-11D-A36O-08 TCGA-RY-A840-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91848fc-8730-434f-acab-791488ffe5eb 2a99e03f-024c-4750-81e0-7bcf3014ef3c g.chr13:46717525G>A ENST00000398576.2 - 15 1656 c.1268C>T c.(1267-1269)gCc>gTc p.A423V LCP1_ENST00000323076.2_Missense_Mutation_p.A423V P13796 PLSL_HUMAN lymphocyte cytosolic protein 1 (L-plastin) 423 Actin-binding 2.|CH 3. regulation of intracellular protein transport|T cell activation involved in immune response cell junction|cytosol|ruffle membrane calcium ion binding breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1) 34 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.39e-05) GATGACCAGGGCATCTGATAA 0.413000 T BCL6 NHL 3 58 0 0 1 0 0 SMARCA4 6597 broad.mit.edu 37 19 11134287 11134287 + Missense_Mutation SNP G G A TCGA-RY-A840-01A-11D-A36O-08 TCGA-RY-A840-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91848fc-8730-434f-acab-791488ffe5eb 2a99e03f-024c-4750-81e0-7bcf3014ef3c g.chr19:11134287G>A ENST00000358026.2 + 20 3237 c.2953G>A c.(2953-2955)Gag>Aag p.E985K SMARCA4_ENST00000344626.4_Missense_Mutation_p.E985K|SMARCA4_ENST00000541122.2_Missense_Mutation_p.E985K|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E985K|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E985K|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E985K|SMARCA4_ENST00000413806.3_Missense_Mutation_p.E985K|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E985K|SMARCA4_ENST00000429416.3_Missense_Mutation_p.E985K NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 985 chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) GAAGGAAGTCGAGGCCCAGTT 0.592000 """F, N, Mis""" NSCLC 8 10 0 0 1 0 0 CLUH 23277 broad.mit.edu 37 17 2594051 2594051 + Missense_Mutation SNP A A T TCGA-RY-A840-01A-11D-A36O-08 TCGA-RY-A840-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91848fc-8730-434f-acab-791488ffe5eb 2a99e03f-024c-4750-81e0-7bcf3014ef3c g.chr17:2594051A>T ENST00000570628.1 - 26 3872 c.3767T>A c.(3766-3768)cTg>cAg p.L1256Q CLUH_ENST00000575014.1_Missense_Mutation_p.L1189Q|CLUH_ENST00000538975.1_Missense_Mutation_p.L1256Q|CLUH_ENST00000435359.1_Missense_Mutation_p.L1256Q clustered mitochondria (cluA/CLU1) homolog CTCGGCTTTCAGATTCTCCAG 0.662000 4 52 0 0 1 0 0 OSTCP1 0 broad.mit.edu 37 6 159262511 159262512 + RNA INS - - A TCGA-RY-A840-01A-11D-A36O-08 TCGA-RY-A840-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91848fc-8730-434f-acab-791488ffe5eb 2a99e03f-024c-4750-81e0-7bcf3014ef3c g.chr6:159262511_159262512insA ENST00000522287.1 - 0 831_832 NR_028496.1 GTCAGCAGGGGAAAAAAAAATA 0.332 2 4 --- --- --- --- AC005077.5 0 broad.mit.edu 37 7 75804672 75804673 + RNA INS - - A TCGA-RY-A840-01A-11D-A36O-08 TCGA-RY-A840-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91848fc-8730-434f-acab-791488ffe5eb 2a99e03f-024c-4750-81e0-7bcf3014ef3c g.chr7:75804672_75804673insA ENST00000437494.1 + 0 57 catctcgaaccaaaaaaaaaag 0.545 2 4 --- --- --- --- MMP12 4321 broad.mit.edu 37 11 102737945 102737945 + RNA DEL A A - rs28381681 TCGA-RY-A840-01A-11D-A36O-08 TCGA-RY-A840-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91848fc-8730-434f-acab-791488ffe5eb 2a99e03f-024c-4750-81e0-7bcf3014ef3c g.chr11:102737945delA ENST00000532855.1 - 0 1007 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) GTTTTCTGACAAAAAAAATTT 0.338 6 0 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102299886 102299887 + RNA INS - - G TCGA-RY-A840-01A-11D-A36O-08 TCGA-RY-A840-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91848fc-8730-434f-acab-791488ffe5eb 2a99e03f-024c-4750-81e0-7bcf3014ef3c g.chr15:102299886_102299887insG ENST00000561463.1 + 0 7932_7933 AACCTGTACTCGCGTCGGAACC 0.589 4 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11049382 11049382 + RNA DEL T T - TCGA-RY-A840-01A-11D-A36O-08 TCGA-RY-A840-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91848fc-8730-434f-acab-791488ffe5eb 2a99e03f-024c-4750-81e0-7bcf3014ef3c g.chr21:11049382delT ENST00000470054.1 - 0 659 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) TTACACAAACTTTTAGCGCCT 0.333 14 200 --- --- --- --- CACNA1F 778 broad.mit.edu 37 X 49062190 49062190 + Frame_Shift_Del DEL C C - TCGA-RY-A840-01A-11D-A36O-08 TCGA-RY-A840-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx f91848fc-8730-434f-acab-791488ffe5eb 2a99e03f-024c-4750-81e0-7bcf3014ef3c g.chrX:49062190delC ENST00000376265.2 - 47 5650 c.5589delG c.(5587-5589)ggfs p.G1863fs CACNA1F_ENST00000376251.1_Frame_Shift_Del_p.G1798fs|CACNA1F_ENST00000323022.5_Frame_Shift_Del_p.G1852fs NM_005183.2 NP_005174.2 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, alpha 1F subunit 1863 axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Verapamil(DB00661) TGCCGAGGTACCCCTCCCCCG 0.647 8 2 --- --- --- ---