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 BOD1L1 259282 broad.mit.edu 37 4 13597501 13597501 + Missense_Mutation SNP C C T TCGA-ET-A4KN-01A-11D-A257-08 TCGA-ET-A4KN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 178d0486-cb0d-4979-8bdf-bb3fe99149bd e3d4072c-07ef-4978-a687-43828578a9b3 g.chr4:13597501C>T uc003gmz.1 - 11 8204 c.8087G>A c.(8086-8088)gGa>gAa p.G2696E NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA. 2696 DNA binding ACTTGGCTTTCCCCCACACAG 0.378000 16 123 0 0 1 0 0 PTK2B 2185 broad.mit.edu 37 8 27291612 27291612 + Missense_Mutation SNP G G A TCGA-ET-A4KN-01A-11D-A257-08 TCGA-ET-A4KN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 178d0486-cb0d-4979-8bdf-bb3fe99149bd e3d4072c-07ef-4978-a687-43828578a9b3 g.chr8:27291612G>A uc003xfn.2 + 16 1916 c.1108G>A c.(1108-1110)Ggt>Agt p.G370S PTK2B_uc022ate.1_Missense_Mutation_p.G370S|PTK2B_uc003xfp.2_Missense_Mutation_p.G370S|PTK2B_uc003xfq.2_Missense_Mutation_p.G370S|PTK2B_uc010luq.1_Missense_Mutation_p.G128S|PTK2B_uc003xfr.1_Missense_Mutation_p.G116S NM_173174 NP_775268 Q14289 FAK2_HUMAN Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA. 370 apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) CTTCCTAGATGGTGAGAAGCG 0.582000 22 89 0 0 1 0 0 MMP2 4313 broad.mit.edu 37 16 55516924 55516924 + Missense_Mutation SNP C C G TCGA-ET-A4KN-01A-11D-A257-08 TCGA-ET-A4KN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 178d0486-cb0d-4979-8bdf-bb3fe99149bd e3d4072c-07ef-4978-a687-43828578a9b3 g.chr16:55516924C>G uc002ehz.4 + 1 568 c.257C>G c.(256-258)aCa>aGa p.T86R MMP2_uc010vhd.2_Missense_Mutation_p.T10R|MMP2_uc010ccc.3_Missense_Mutation_p.T36R NM_004530 NP_004521 P08253 MMP2_HUMAN Homo sapiens matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) (MMP2), transcript variant 1, mRNA. 86 angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding p.T86T(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 58 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) CTGCCCCAGACAGGTGATCTT 0.532000 12 81 0 0 1 0 0 MON2 23041 broad.mit.edu 37 12 62986421 62986421 + Silent SNP C C T TCGA-ET-A4KN-01A-11D-A257-08 TCGA-ET-A4KN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 178d0486-cb0d-4979-8bdf-bb3fe99149bd e3d4072c-07ef-4978-a687-43828578a9b3 g.chr12:62986421C>T uc001sre.3 + 34 5437 c.5046C>T c.(5044-5046)tgC>tgT p.C1682C MON2_uc010ssn.2_Silent_p.C1676C|MON2_uc009zqj.3_3'UTR|MON2_uc010ssl.2_Silent_p.C1610C|MON2_uc010ssm.2_Silent_p.C1653C|MON2_uc001srf.3_Silent_p.C1445C|MON2_uc001srg.3_Silent_p.C551C NM_015026 NP_055841 Q7Z3U7 MON2_HUMAN Homo sapiens MON2 homolog (S. cerevisiae) (MON2), mRNA. 1683 Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 57 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) TAGTAGAATGCATCACCTGTT 0.393000 22 43 0 0 1 0 0 ADD2 119 broad.mit.edu 37 2 70900084 70900084 + Missense_Mutation SNP G G A TCGA-ET-A4KN-01A-11D-A257-08 TCGA-ET-A4KN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 178d0486-cb0d-4979-8bdf-bb3fe99149bd e3d4072c-07ef-4978-a687-43828578a9b3 g.chr2:70900084G>A uc021vjc.1 - 14 2061 c.1796C>T c.(1795-1797)gCt>gTt p.A599V ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Missense_Mutation_p.L628F|ADD2_uc002sgz.3_Missense_Mutation_p.A599V NM_001185054 NP_001608 P35612 ADDB_HUMAN Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA. 599 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding F-actin capping protein complex|cytoplasm|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2) 36 CACTGGAGAAGCAGGTGCAGA 0.512000 6 29 0 0 1 0 0 ITGA7 3679 broad.mit.edu 37 12 56091578 56091578 + Missense_Mutation SNP T T G TCGA-ET-A4KN-01A-11D-A257-08 TCGA-ET-A4KN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 178d0486-cb0d-4979-8bdf-bb3fe99149bd e3d4072c-07ef-4978-a687-43828578a9b3 g.chr12:56091578T>G uc001shh.3 - 8 1542 c.1322A>C c.(1321-1323)aAg>aCg p.K441T ITGA7_uc001shg.3_Missense_Mutation_p.K437T|ITGA7_uc010sps.2_Missense_Mutation_p.K344T|ITGA7_uc009znw.3_5'Flank|ITGA7_uc009znx.3_Missense_Mutation_p.K324T NM_001144996 NP_001138468 Q13683 ITA7_HUMAN Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA. 481 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 GCCGAAGCTCTTGATGCCCAC 0.622000 7 121 0 0 1 0 0 MED11 400569 broad.mit.edu 37 17 4634849 4634849 + Missense_Mutation SNP G G A TCGA-ET-A4KN-01A-11D-A257-08 TCGA-ET-A4KN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 178d0486-cb0d-4979-8bdf-bb3fe99149bd e3d4072c-07ef-4978-a687-43828578a9b3 g.chr17:4634849G>A uc002fyp.3 + 0 127 c.65G>A c.(64-66)gGc>gAc p.G22D NM_001001683 NP_001001683 Q9P086 MED11_HUMAN Homo sapiens mediator complex subunit 11 (MED11), mRNA. 22 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex protein binding lung(2)|ovary(2) 4 CGGGAAATCGGCGCCATCCTT 0.577000 OREG0024104 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 37 0 0 1 0 0 C16orf5 29965 broad.mit.edu 37 16 4563025 4563025 + Silent SNP G G A TCGA-ET-A4KN-01A-11D-A257-08 TCGA-ET-A4KN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 178d0486-cb0d-4979-8bdf-bb3fe99149bd e3d4072c-07ef-4978-a687-43828578a9b3 g.chr16:4563025G>A uc002cwv.3 - 4 532 c.282C>T c.(280-282)taC>taT p.Y94Y C16orf5_uc002cww.3_Silent_p.Y94Y|C16orf5_uc010uxl.2_Intron|C16orf5_uc010uxm.2_Intron|C16orf5_uc010btu.3_Intron|C16orf5_uc002cwu.3_Silent_p.Y94Y NM_001199054 NP_001185983 Q9H305 LITFL_HUMAN Homo sapiens chromosome 16 open reading frame 5 (C16orf5), transcript variant 1, mRNA. 94 Pro-rich. DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis|tumor necrosis factor-mediated signaling pathway nucleus NS(1)|endometrium(1)|lung(2)|ovary(1) 5 Ovarian(90;0.17) CTGGGGGGTAGTAGCCCATGG 0.657000 3 3 0 0 1 0 0 PRC1 9055 broad.mit.edu 37 15 91517940 91517940 + Nonsense_Mutation SNP G G A TCGA-ET-A4KN-01A-11D-A257-08 TCGA-ET-A4KN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 178d0486-cb0d-4979-8bdf-bb3fe99149bd e3d4072c-07ef-4978-a687-43828578a9b3 g.chr15:91517940G>A uc002bqm.3 - 9 1382 c.1225C>T c.(1225-1227)Cga>Tga p.R409* PRC1_uc002bqn.3_Nonsense_Mutation_p.R409*|PRC1_uc002bqo.3_Nonsense_Mutation_p.R409*|PRC1_uc010uqs.2_Nonsense_Mutation_p.R368* NM_003981 NP_003972 O43663 PRC1_HUMAN Homo sapiens protein regulator of cytokinesis 1 (PRC1), transcript variant 1, mRNA. 409 Spectrin-fold. cytokinesis|mitotic spindle elongation cytoplasm|nucleus|spindle microtubule|spindle pole protein binding endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2) 25 Lung NSC(78;0.0987)|all_lung(78;0.175) AATTCAATTCGTGCCTTCAAC 0.413000 9 199 0 0 1 0 0 GLI2 2736 broad.mit.edu 37 2 121729541 121729541 + Missense_Mutation SNP G G A TCGA-ET-A4KN-01A-11D-A257-08 TCGA-ET-A4KN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 178d0486-cb0d-4979-8bdf-bb3fe99149bd e3d4072c-07ef-4978-a687-43828578a9b3 g.chr2:121729541G>A uc010flp.3 + 6 1114 c.1084G>A c.(1084-1086)Gtc>Atc p.V362I GLI2_uc002tmq.1_Missense_Mutation_p.V34I|GLI2_uc002tmr.1_Missense_Mutation_p.V34I|GLI2_uc002tmt.4_Missense_Mutation_p.V34I|GLI2_uc002tmu.4_Missense_Mutation_p.V34I|GLI2_uc010flo.1_Missense_Mutation_p.V237I|GLI2_uc002tmw.1_Missense_Mutation_p.V362I NM_005270 NP_005261 P10070 GLI2_HUMAN Homo sapiens GLI family zinc finger 2 (GLI2), mRNA. 362 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) TGAGTCGGCCGTCAGCAGCAC 0.592000 12 47 0 0 1 0 0 CDKN1A 1026 broad.mit.edu 37 6 36651904 36651904 + Missense_Mutation SNP G G C rs143419412 byFrequency TCGA-ET-A4KN-01A-11D-A257-08 TCGA-ET-A4KN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 178d0486-cb0d-4979-8bdf-bb3fe99149bd e3d4072c-07ef-4978-a687-43828578a9b3 g.chr6:36651904G>C uc011dtq.2 + 1 154 c.128G>C c.(127-129)cGt>cCt p.R43P CDKN1A_uc021yzb.1_Missense_Mutation_p.R9P|CDKN1A_uc021yzc.1_Missense_Mutation_p.R9P|CDKN1A_uc003omm.4_Missense_Mutation_p.R9P|CDKN1A_uc003omn.3_Missense_Mutation_p.R9P NM_078467 NP_510867 P38936 CDN1A_HUMAN Homo sapiens cyclin-dependent kinase inhibitor 1A (p21, Cip1) (CDKN1A), transcript variant 2, mRNA. 9 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|stress-induced premature senescence PCNA-p21 complex|cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5) 15 GGGGATGTCCGTCAGAACCCA 0.632000 7 32 0 0 1 0 0