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 ITGB6 3694 broad.mit.edu 37 2 161052119 161052119 + Silent SNP C C T TCGA-TM-A84S-01A-11D-A36O-08 TCGA-TM-A84S-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04900639-99a7-4c20-944b-77fab59a174a 59753c32-0a08-46aa-94cc-cc88d0455862 g.chr2:161052119C>T ENST00000283249.2 - 4 591 c.354G>A c.(352-354)gcG>gcA p.A118A ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000428609.2_Silent_p.A76A|ITGB6_ENST00000409872.1_Silent_p.A118A|ITGB6_ENST00000409967.2_Silent_p.A118A P18564 ITB6_HUMAN integrin, beta 6 118 cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development integrin complex receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 GCAGAGTCTGCGCACCACCTG 0.532000 3 48 0 0 1 0 0 CCDC88A 55704 broad.mit.edu 37 2 55566774 55566774 + Silent SNP T T C TCGA-TM-A84S-01A-11D-A36O-08 TCGA-TM-A84S-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04900639-99a7-4c20-944b-77fab59a174a 59753c32-0a08-46aa-94cc-cc88d0455862 g.chr2:55566774T>C ENST00000436346.1 - 13 2185 c.1344A>G c.(1342-1344)aaA>aaG p.K448K AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000413716.2_Silent_p.K448K|CCDC88A_ENST00000336838.6_Silent_p.K448K|CCDC88A_ENST00000263630.8_Silent_p.K448K|AC012358.8_ENST00000599352.1_RNA NM_001135597.1|NM_001254943.1 NP_001129069.1|NP_001241872.1 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A 448 activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 69 GGCCCAGGGATTTCTGGGGTG 0.338000 4 50 0 0 1 0 0 MGAT4B 11282 broad.mit.edu 37 5 179228989 179228989 + Silent SNP C C T TCGA-TM-A84S-01A-11D-A36O-08 TCGA-TM-A84S-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04900639-99a7-4c20-944b-77fab59a174a 59753c32-0a08-46aa-94cc-cc88d0455862 g.chr5:179228989C>T ENST00000337755.5 - 1 1009 c.123G>A c.(121-123)acG>acA p.T41T MGAT4B_ENST00000292591.7_Intron|MGAT4B_ENST00000521305.1_Intron NM_054013.3 NP_463459.1 Q9UQ53 MGT4B_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B 0 N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1) 13 all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GTAGGCAAGCCGTCACGAGGG 0.627000 OREG0017110 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 69 0 0 1 0 0 CTSV 1515 broad.mit.edu 37 9 99800203 99800203 + Silent SNP G G C TCGA-TM-A84S-01A-11D-A36O-08 TCGA-TM-A84S-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04900639-99a7-4c20-944b-77fab59a174a 59753c32-0a08-46aa-94cc-cc88d0455862 g.chr9:99800203G>C ENST00000259470.5 - 2 372 c.123C>G c.(121-123)ggC>ggG p.G41G CTSV_ENST00000479932.1_5'UTR|CTSV_ENST00000538255.1_Silent_p.G41G NM_001333.3 NP_001324.2 cathepsin V TACCAACCGCGCCATATAATC 0.478000 5 69 0 0 1 0 0 KCNIP1 0 broad.mit.edu 37 5 170160874 170160874 + Missense_Mutation SNP T T C TCGA-TM-A84S-01A-11D-A36O-08 TCGA-TM-A84S-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04900639-99a7-4c20-944b-77fab59a174a 59753c32-0a08-46aa-94cc-cc88d0455862 g.chr5:170160874T>C ENST00000328939.4 + 7 1112 c.575T>C c.(574-576)tTa>tCa p.L192S KCNIP1_ENST00000411494.1_Missense_Mutation_p.L203S|KCNIP1_ENST00000520740.1_Missense_Mutation_p.L164S|KCNIP1_ENST00000377360.4_Missense_Mutation_p.L201S|KCNIP1_ENST00000390656.4_Missense_Mutation_p.L192S|KCNIP1_ENST00000434108.1_Missense_Mutation_p.L217S NM_001034837.1|NM_014592.2 NP_001030009.1|NP_055407.1 Q9NZI2 KCIP1_HUMAN Kv channel interacting protein 1 203 EF-hand 4. detection of calcium ion|signal transduction|synaptic transmission plasma membrane potassium channel activity|voltage-gated ion channel activity autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 18 Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297) Medulloblastoma(196;0.0109)|all_neural(177;0.0177) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ATCGTAACTTTAGATGAATTT 0.428000 4 45 0 0 1 0 0 FKBP8 23770 broad.mit.edu 37 19 18652528 18652528 + Missense_Mutation SNP C C T TCGA-TM-A84S-01A-11D-A36O-08 TCGA-TM-A84S-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04900639-99a7-4c20-944b-77fab59a174a 59753c32-0a08-46aa-94cc-cc88d0455862 g.chr19:18652528C>T ENST00000597960.2 - 2 373 c.253G>A c.(253-255)Gcc>Acc p.A85T FKBP8_ENST00000596558.1_Missense_Mutation_p.A85T|FKBP8_ENST00000453489.2_Missense_Mutation_p.A114T|FKBP8_ENST00000544835.2_Missense_Mutation_p.A85T|FKBP8_ENST00000222308.3_Missense_Mutation_p.A85T Q14318 FKBP8_HUMAN FK506 binding protein 8, 38kDa 85 Glu-rich. apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding integral to endoplasmic reticulum membrane|mitochondrial membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1) 15 GGGGCTGGGGCGGGCTCGGGC 0.692000 15 25 0 0 1 0 0 SIRPB1 10326 broad.mit.edu 37 20 1585397 1585397 + Missense_Mutation SNP T T C rs148754551 by1000genomes TCGA-TM-A84S-01A-11D-A36O-08 TCGA-TM-A84S-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04900639-99a7-4c20-944b-77fab59a174a 59753c32-0a08-46aa-94cc-cc88d0455862 g.chr20:1585397T>C ENST00000279477.7 - 3 806 c.742A>G c.(742-744)Acc>Gcc p.T248A SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|SIRPB1_ENST00000381605.4_Intron|RP4-576H24.4_ENST00000564763.1_Intron NM_001135844.2 NP_001129316.1 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 248 cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding p.T248A(5) central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 CCTCGGATGGTCTCAGACAAG 0.627000 3 27 0 0 1 0 0 MYO19 80179 broad.mit.edu 37 17 34862971 34862971 + Missense_Mutation SNP C C T TCGA-TM-A84S-01A-11D-A36O-08 TCGA-TM-A84S-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04900639-99a7-4c20-944b-77fab59a174a 59753c32-0a08-46aa-94cc-cc88d0455862 g.chr17:34862971C>T ENST00000431794.3 - 17 1997 c.1475G>A c.(1474-1476)cGc>cAc p.R492H MYO19_ENST00000268852.9_Intron NM_001163735.1 NP_001157207.1 Q96H55 MYO19_HUMAN myosin XIX 492 Myosin head-like. mitochondrial outer membrane|myosin complex actin binding|ATP binding|motor activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1) 20 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) TCGATTGAGGCGGCATTCCTG 0.637000 7 43 0 0 1 0 0 AFF4 27125 broad.mit.edu 37 5 132262879 132262879 + Silent SNP A A G TCGA-TM-A84S-01A-11D-A36O-08 TCGA-TM-A84S-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04900639-99a7-4c20-944b-77fab59a174a 59753c32-0a08-46aa-94cc-cc88d0455862 g.chr5:132262879A>G ENST00000265343.5 - 5 1363 c.984T>C c.(982-984)ccT>ccC p.P328P AFF4_ENST00000491831.1_5'UTR|AFF4_ENST00000378595.3_Silent_p.P328P NM_014423.3 NP_055238.1 Q9UHB7 AFF4_HUMAN AF4/FMR2 family, member 4 328 Ser-rich. transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity SEPT8/AFF4(2) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2) 43 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TTAGAGGGGGAGGCCATGAAT 0.333000 3 48 0 0 1 0 0 GRAP2 9402 broad.mit.edu 37 22 40343126 40343126 + Missense_Mutation SNP A A G TCGA-TM-A84S-01A-11D-A36O-08 TCGA-TM-A84S-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04900639-99a7-4c20-944b-77fab59a174a 59753c32-0a08-46aa-94cc-cc88d0455862 g.chr22:40343126A>G ENST00000344138.4 + 2 279 c.16A>G c.(16-18)Aag>Gag p.K6E GRAP2_ENST00000544756.1_5'UTR|GRAP2_ENST00000543252.1_Missense_Mutation_p.K6E|GRAP2_ENST00000478445.1_Intron|GRAP2_ENST00000540310.1_Intron|GRAP2_ENST00000399090.2_Intron|GRAP2_ENST00000407075.3_Missense_Mutation_p.K6E NM_004810.2 NP_004801.1 O75791 GRAP2_HUMAN GRB2-related adaptor protein 2 6 SH3 1. cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway cytosol SH3/SH2 adaptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 14 AGCTGTTGCCAAGTTTGATTT 0.527000 5 73 0 0 1 0 0 PPIP5K1 9677 broad.mit.edu 37 15 43827518 43827518 + Missense_Mutation SNP C C T TCGA-TM-A84S-01A-11D-A36O-08 TCGA-TM-A84S-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04900639-99a7-4c20-944b-77fab59a174a 59753c32-0a08-46aa-94cc-cc88d0455862 g.chr15:43827518C>T ENST00000420765.1 - 31 3838 c.3656G>A c.(3655-3657)gGg>gAg p.G1219E PPIP5K1_ENST00000334933.4_Missense_Mutation_p.G1194E|PPIP5K1_ENST00000360301.4_Missense_Mutation_p.G1194E|PPIP5K1_ENST00000396923.3_Missense_Mutation_p.G1219E|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.G1195E|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.G1215E|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.G1192E|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.G1192E NM_001130858.2 NP_001124330.1 Q6PFW1 VIP1_HUMAN diphosphoinositol pentakisphosphate kinase 1 1219 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity large_intestine(1) 1 TGCTCCACTCCCAGGGGTCTC 0.527000 32 58 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-TM-A84S-01A-11D-A36O-08 TCGA-TM-A84S-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04900639-99a7-4c20-944b-77fab59a174a 59753c32-0a08-46aa-94cc-cc88d0455862 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 30 51 0 0 1 0 0 SLC45A2 51151 broad.mit.edu 37 5 33951714 33951714 + Silent SNP G G A TCGA-TM-A84S-01A-11D-A36O-08 TCGA-TM-A84S-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04900639-99a7-4c20-944b-77fab59a174a 59753c32-0a08-46aa-94cc-cc88d0455862 g.chr5:33951714G>A ENST00000382102.3 - 5 1158 c.1101C>T c.(1099-1101)gtC>gtT p.V367V SLC45A2_ENST00000342059.3_Silent_p.V308V|SLC45A2_ENST00000296589.4_Silent_p.V367V|SLC45A2_ENST00000509381.1_3'UTR|SLC45A2_ENST00000345083.5_Silent_p.V259V NM_001012509.2 NP_001012527.1 Q9UMX9 S45A2_HUMAN solute carrier family 45, member 2 367 melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception integral to membrane|melanosome membrane breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 ATCCAACCTCGACTCCTCTTT 0.453000 16 103 0 0 1 0 0 TLK1 9874 broad.mit.edu 37 2 171863512 171863512 + Missense_Mutation SNP C C G TCGA-TM-A84S-01A-11D-A36O-08 TCGA-TM-A84S-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04900639-99a7-4c20-944b-77fab59a174a 59753c32-0a08-46aa-94cc-cc88d0455862 g.chr2:171863512C>G ENST00000442919.2 - 15 1949 c.1334G>C c.(1333-1335)tGg>tCg p.W445S TLK1_ENST00000360843.3_Missense_Mutation_p.W514S|TLK1_ENST00000521943.1_Missense_Mutation_p.W445S|TLK1_ENST00000431350.2_Missense_Mutation_p.W493S|TLK1_ENST00000434911.2_Missense_Mutation_p.W397S NM_012290.4 NP_036422.3 Q9UKI8 TLK1_HUMAN tousled-like kinase 1 493 cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 33 CTCATCTCTCCAGCTTTTATT 0.294000 16 55 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27101006 27101006 + Nonsense_Mutation SNP C C T TCGA-TM-A84S-01A-11D-A36O-08 TCGA-TM-A84S-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04900639-99a7-4c20-944b-77fab59a174a 59753c32-0a08-46aa-94cc-cc88d0455862 g.chr1:27101006C>T ENST00000324856.7 + 18 4659 c.4288C>T c.(4288-4290)Cag>Tag p.Q1430* ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q1047*|ARID1A_ENST00000540690.1_Intron NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1430 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) TGTATACAACCAGTATGGCAA 0.627000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 9 39 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178952072 178952072 + Missense_Mutation SNP A A G TCGA-TM-A84S-01A-11D-A36O-08 TCGA-TM-A84S-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04900639-99a7-4c20-944b-77fab59a174a 59753c32-0a08-46aa-94cc-cc88d0455862 g.chr3:178952072A>G ENST00000263967.3 + 21 3284 c.3127A>G c.(3127-3129)Atg>Gtg p.M1043V NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 1043 PI3K/PI4K. M -> I (in cancer; shows an increase in lipid kinase activity). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.M1043V(22) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) CATGAAACAAATGAATGATGC 0.368000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 6 49 0 0 1 0 0 ARHGAP9 64333 broad.mit.edu 37 12 57867389 57867389 + Missense_Mutation SNP C C T TCGA-TM-A84S-01A-11D-A36O-08 TCGA-TM-A84S-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04900639-99a7-4c20-944b-77fab59a174a 59753c32-0a08-46aa-94cc-cc88d0455862 g.chr12:57867389C>T ENST00000393797.2 - 20 2483 c.2291G>A c.(2290-2292)tGc>tAc p.C764Y ARHGAP9_ENST00000430041.2_Missense_Mutation_p.C490Y|ARHGAP9_ENST00000424809.2_Intron|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.C674Y|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.C693Y|ARHGAP9_ENST00000550288.1_3'UTR Q9BRR9 RHG09_HUMAN Rho GTPase activating protein 9 693 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1) 30 GBM - Glioblastoma multiforme(3;3.37e-34) TCCTGACCTGCATAAATGCTC 0.517000 11 44 0 0 1 0 0 ZNF18 7566 broad.mit.edu 37 17 11881794 11881794 + Missense_Mutation SNP G G T TCGA-TM-A84S-01A-11D-A36O-08 TCGA-TM-A84S-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04900639-99a7-4c20-944b-77fab59a174a 59753c32-0a08-46aa-94cc-cc88d0455862 g.chr17:11881794G>T ENST00000322748.3 - 9 1734 c.1130C>A c.(1129-1131)cCt>cAt p.P377H ZNF18_ENST00000580306.1_Missense_Mutation_p.P377H|ZNF18_ENST00000580613.1_Intron|ZNF18_ENST00000454073.3_Missense_Mutation_p.P376H NM_144680.2 NP_653281.2 P17022 ZNF18_HUMAN zinc finger protein 18 377 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4) 14 Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233) TCCTGAATGAGGATTAGGCAA 0.532000 32 60 1.7881e-09 1.7881e-09 1 1 0 ZNF844 284391 broad.mit.edu 37 19 12187394 12187394 + Missense_Mutation SNP T T C TCGA-TM-A84S-01A-11D-A36O-08 TCGA-TM-A84S-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04900639-99a7-4c20-944b-77fab59a174a 59753c32-0a08-46aa-94cc-cc88d0455862 g.chr19:12187394T>C ENST00000439326.3 + 4 1634 c.1459T>C c.(1459-1461)Ttt>Ctt p.F487L ZNF844_ENST00000441304.2_3'UTR NM_001136501.1 NP_001129973.1 Q08AG5 ZN844_HUMAN zinc finger protein 844 487 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.F487L(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1) 10 GCCTTCATTTTTTCCACTTCC 0.448000 3 72 0 0 1 0 0 ADCY9 115 broad.mit.edu 37 16 4016307 4016307 + Silent SNP G G A rs146365616 TCGA-TM-A84S-01A-11D-A36O-08 TCGA-TM-A84S-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04900639-99a7-4c20-944b-77fab59a174a 59753c32-0a08-46aa-94cc-cc88d0455862 g.chr16:4016307G>A ENST00000294016.3 - 11 4069 c.3531C>T c.(3529-3531)atC>atT p.I1177I NM_001116.3 NP_001107.2 O60503 ADCY9_HUMAN adenylate cyclase 9 1177 Guanylate cyclase 2. activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 TGGTGGTGCCGATGACCCCGG 0.607000 12 86 0 0 1 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43944836 43944836 + Missense_Mutation SNP C C T TCGA-TM-A84S-01A-11D-A36O-08 TCGA-TM-A84S-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04900639-99a7-4c20-944b-77fab59a174a 59753c32-0a08-46aa-94cc-cc88d0455862 g.chr12:43944836C>T ENST00000389420.3 - 2 328 c.329G>A c.(328-330)gGa>gAa p.G110E ADAMTS20_ENST00000553158.1_Missense_Mutation_p.G110E NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 110 proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CTCCGGGGTTCCCAAGTGCAC 0.657000 4 21 0 0 1 0 0 TTI1 9675 broad.mit.edu 37 20 36641143 36641143 + Missense_Mutation SNP G G A TCGA-TM-A84S-01A-11D-A36O-08 TCGA-TM-A84S-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04900639-99a7-4c20-944b-77fab59a174a 59753c32-0a08-46aa-94cc-cc88d0455862 g.chr20:36641143G>A ENST00000373448.2 - 3 1314 c.1076C>T c.(1075-1077)gCa>gTa p.A359V TTI1_ENST00000487362.1_Intron|TTI1_ENST00000449821.1_Missense_Mutation_p.A359V|TTI1_ENST00000373447.3_Missense_Mutation_p.A359V NM_014657.1 NP_055472.1 O43156 TTI1_HUMAN TELO2 interacting protein 1 359 binding breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 47 TTTTTGATCTGCAAAATGTCT 0.478000 4 142 0 0 1 0 0 ITGB3 3690 broad.mit.edu 37 17 45377877 45377877 + Missense_Mutation SNP A A G TCGA-TM-A84S-01A-11D-A36O-08 TCGA-TM-A84S-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04900639-99a7-4c20-944b-77fab59a174a 59753c32-0a08-46aa-94cc-cc88d0455862 g.chr17:45377877A>G ENST00000560629.1 + 12 1912 c.1912A>G c.(1912-1914)Agc>Ggc p.S638G ITGB3_ENST00000559488.1_Silent_p.G649G|ITGB3_ENST00000435993.2_Silent_p.G602G P05106 ITB3_HUMAN integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) 0 activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 39 Abciximab(DB00054)|Tirofiban(DB00775) TTGACCGGGGAGCCCTACATG 0.483000 3 39 0 0 1 0 0 ZNF577 84765 broad.mit.edu 37 19 52375975 52375975 + Missense_Mutation SNP G G A TCGA-TM-A84S-01A-11D-A36O-08 TCGA-TM-A84S-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04900639-99a7-4c20-944b-77fab59a174a 59753c32-0a08-46aa-94cc-cc88d0455862 g.chr19:52375975G>A ENST00000420592.1 - 6 2424 c.1091C>T c.(1090-1092)cCg>cTg p.P364L ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000451628.2_Missense_Mutation_p.P364L|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000301399.5_Missense_Mutation_p.P423L Q9BSK1 ZN577_HUMAN zinc finger protein 577 423 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P416Q(1) breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019) TAACAATGGCGGGGTTCCTGA 0.428000 5 53 0 0 1 0 0 AARS 16 broad.mit.edu 37 16 70295033 70295033 + Missense_Mutation SNP G G C TCGA-TM-A84S-01A-11D-A36O-08 TCGA-TM-A84S-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04900639-99a7-4c20-944b-77fab59a174a 59753c32-0a08-46aa-94cc-cc88d0455862 g.chr16:70295033G>C ENST00000261772.8 - 13 1842 c.1699C>G c.(1699-1701)Cag>Gag p.Q567E AARS_ENST00000564359.1_5'UTR NM_001605.2 NP_001596.2 P49588 SYAC_HUMAN alanyl-tRNA synthetase 567 alanyl-tRNA aminoacylation|tRNA processing cytosol|soluble fraction alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0365) BRCA - Breast invasive adenocarcinoma(221;0.161) L-Alanine(DB00160) CCTCGGACCTGAGCATTCTTC 0.398000 19 39 0 0 1 0 0 NRDE2 55051 broad.mit.edu 37 14 90784399 90784399 + Silent SNP T T C TCGA-TM-A84S-01A-11D-A36O-08 TCGA-TM-A84S-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04900639-99a7-4c20-944b-77fab59a174a 59753c32-0a08-46aa-94cc-cc88d0455862 g.chr14:90784399T>C ENST00000354366.3 - 2 355 c.123A>G c.(121-123)caA>caG p.Q41Q NRDE2_ENST00000357904.3_Intron|NRDE2_ENST00000557106.1_5'UTR NM_017970.3 NP_060440.2 NRDE-2, necessary for RNA interference, domain containing CTTCAGTTTGTTGGCTCAGGG 0.428000 47 94 0 0 1 0 0 TRBV29-1 0 broad.mit.edu 37 7 142448200 142448207 + RNA DEL GGTGGAAA GGTGGAAA - rs149832120 by1000genomes TCGA-TM-A84S-01A-11D-A36O-08 TCGA-TM-A84S-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04900639-99a7-4c20-944b-77fab59a174a 59753c32-0a08-46aa-94cc-cc88d0455862 g.chr7:142448200_142448207delGGTGGAAA ENST00000422143.2 + 0 101 GTTAACACTGGGTGGAAAGGTGGAAAGA 0.457 4 3 --- --- --- --- RP11-308D16.4 0 broad.mit.edu 37 X 136030245 136030245 + RNA DEL T T - TCGA-TM-A84S-01A-11D-A36O-08 TCGA-TM-A84S-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04900639-99a7-4c20-944b-77fab59a174a 59753c32-0a08-46aa-94cc-cc88d0455862 g.chrX:136030245delT ENST00000424306.1 + 0 2052 GAGAACCTGCTTTTTTTTTTT 0.438 3 5 --- --- --- ---