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 NFAT5 10725 broad.mit.edu 37 16 69729160 69729160 + Silent SNP A A G TCGA-EM-A22K-01A-11D-A17V-08 TCGA-EM-A22K-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04cb54da-f53f-4bdd-9f67-42bf9140da17 b31f64cf-a428-415f-8380-0eb6d368cfd2 g.chr16:69729160A>G uc002exl.2 + 13 4872 c.4536A>G c.(4534-4536)caA>caG p.Q1512Q NFAT5_uc002exj.2_Silent_p.Q1418Q|NFAT5_uc002exk.2_Silent_p.Q1418Q|NFAT5_uc002exn.2_Silent_p.Q1511Q|NFAT5_uc002exm.2_Silent_p.Q1494Q|NFAT5_uc002exo.2_Intron|NFAT5_uc002exi.3_Silent_p.Q1418Q NM_138713 NP_775322 O94916 NFAT5_HUMAN Homo sapiens nuclear factor of activated T-cells 5, tonicity-responsive (NFAT5), transcript variant 2, mRNA. 1494 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 TTTCTCAGCAAATGCCAGAGA 0.463000 14 72 0 0 1 0 0 TMEM143 55260 broad.mit.edu 37 19 48863423 48863423 + Missense_Mutation SNP G G C TCGA-EM-A22K-01A-11D-A17V-08 TCGA-EM-A22K-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04cb54da-f53f-4bdd-9f67-42bf9140da17 b31f64cf-a428-415f-8380-0eb6d368cfd2 g.chr19:48863423G>C uc002pix.1 - 2 284 c.275C>G c.(274-276)tCg>tGg p.S92W TMEM143_uc002piw.1_Non-coding_Transcript|TMEM143_uc010xzn.1_Missense_Mutation_p.S92W|TMEM143_uc010elw.1_Intron|TMEM143_uc010xzo.1_Intron|TMEM143_uc002piy.1_Intron|TMEM143_uc010xzp.1_Missense_Mutation_p.S92W|TMEM143_uc010xzq.1_Intron NM_018273 NP_060743 Q96AN5 TM143_HUMAN Homo sapiens transmembrane protein 143 (TMEM143), mRNA. 92 integral to membrane|mitochondrion endometrium(2)|kidney(1)|large_intestine(2)|lung(9) 14 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157) TGCCGGACTCGAGTGGAATTC 0.562000 3 57 0 0 1 0 0 LAMP5 24141 broad.mit.edu 37 20 9498782 9498782 + Missense_Mutation SNP G G T TCGA-EM-A22K-01A-11D-A17V-08 TCGA-EM-A22K-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04cb54da-f53f-4bdd-9f67-42bf9140da17 b31f64cf-a428-415f-8380-0eb6d368cfd2 g.chr20:9498782G>T uc002wni.2 + 4 1066 c.571G>T c.(571-573)Gcc>Tcc p.A191S LAMP5_uc010zrc.2_Missense_Mutation_p.A147S NM_012261 NP_036393 Q9UJQ1 CT103_HUMAN Homo sapiens lysosomal-associated membrane protein family, member 5 (LAMP5), transcript variant 1, mRNA. 191 integral to membrane CATTTCACTGGCCTCTAGTGA 0.507000 24 44 0 0 1 0 0 EIF2AK4 440275 broad.mit.edu 37 15 40308702 40308702 + Splice_Site SNP G G A TCGA-EM-A22K-01A-11D-A17V-08 TCGA-EM-A22K-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04cb54da-f53f-4bdd-9f67-42bf9140da17 b31f64cf-a428-415f-8380-0eb6d368cfd2 g.chr15:40308702G>A uc001zkm.1 + 28 3810 c.3760_splice c.e28-1 p.L1254_splice EIF2AK4_uc010bbj.1_Splice_Site_p.L955_splice|EIF2AK4_uc001zkn.1_Splice_Site_p.L354_splice|EIF2AK4_uc001zko.1_Intron|EIF2AK4_uc010bbk.1_Splice_Site NM_001013703 NP_001013725 Q9P2K8 E2AK4_HUMAN Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA. 1254 Histidyl-tRNA synthetase-like. translation cytosolic ribosome ATP binding|aminoacyl-tRNA ligase activity|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1) 40 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) TTGCTTTCCAGCTGTGTCGAC 0.473000 3 49 0 0 1 0 0 HRAS 3265 broad.mit.edu 37 11 533875 533875 + Missense_Mutation SNP G G T rs28933406 TCGA-EM-A22K-01A-11D-A17V-08 TCGA-EM-A22K-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04cb54da-f53f-4bdd-9f67-42bf9140da17 b31f64cf-a428-415f-8380-0eb6d368cfd2 g.chr11:533875G>T uc001lpv.3 - 2 369 c.181C>A c.(181-183)Cag>Aag p.Q61K HRAS_uc010qvw.2_Missense_Mutation_p.Q61K|HRAS_uc010qvx.2_Missense_Mutation_p.Q61K|HRAS_uc010qvy.2_Non-coding_Transcript NM_005343 NP_005334 P01112 RASH_HUMAN Homo sapiens v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS), transcript variant 1, mRNA. 61 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|synaptic transmission Golgi membrane|cytosol|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.Q61R(130)|p.Q61K(120)|p.Q61L(113)|p.Q61H(20)|p.Q61P(3)|p.Q61E(2)|p.Q61?(1)|p.Q61Q(1) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) TACTCCTCCTGGCCGGCGGTA 0.597000 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 47 81 0 0 1 0 0 SCUBE1 80274 broad.mit.edu 37 22 43619190 43619190 + Missense_Mutation SNP A A G TCGA-EM-A22K-01A-11D-A17V-08 TCGA-EM-A22K-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04cb54da-f53f-4bdd-9f67-42bf9140da17 b31f64cf-a428-415f-8380-0eb6d368cfd2 g.chr22:43619190A>G uc003bdt.2 - 10 1367 c.1240T>C c.(1240-1242)Tcc>Ccc p.S414P NM_173050 NP_766638 Q8IWY4 SCUB1_HUMAN Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA. 414 adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_neural(38;0.0414)|Ovarian(80;0.07) GCCCGGGGGGAGGTCTTGGCG 0.647000 4 108 0 0 1 0 0 IGDCC4 57722 broad.mit.edu 37 15 65677333 65677333 + Nonsense_Mutation SNP G G A TCGA-EM-A22K-01A-11D-A17V-08 TCGA-EM-A22K-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04cb54da-f53f-4bdd-9f67-42bf9140da17 b31f64cf-a428-415f-8380-0eb6d368cfd2 g.chr15:65677333G>A uc002aou.1 - 18 3511 c.3301C>T c.(3301-3303)Cag>Tag p.Q1101* IGDCC4_uc002aot.1_Nonsense_Mutation_p.Q689* NM_020962 NP_066013 Q8TDY8 IGDC4_HUMAN Homo sapiens immunoglobulin superfamily, DCC subclass, member 4 (IGDCC4), mRNA. 1101 integral to membrane|plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 44 AACAGCGTCTGCCCAGTTCCA 0.662000 OREG0023195 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 129 0 0 1 0 0 ANTXR2 118429 broad.mit.edu 37 4 80992749 80992749 + Missense_Mutation SNP T T C TCGA-EM-A22K-01A-11D-A17V-08 TCGA-EM-A22K-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04cb54da-f53f-4bdd-9f67-42bf9140da17 b31f64cf-a428-415f-8380-0eb6d368cfd2 g.chr4:80992749T>C uc003hlz.4 - 1 975 c.212A>G c.(211-213)gAg>gGg p.E71G ANTXR2_uc003hly.4_Missense_Mutation_p.E71G|ANTXR2_uc003hlx.1_Non-coding_Transcript|ANTXR2_uc010ijn.3_Missense_Mutation_p.E71G NM_001145794 NP_001139266 P58335 ANTR2_HUMAN Homo sapiens anthrax toxin receptor 2 (ANTXR2), transcript variant 2, mRNA. 71 VWFA. endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane metal ion binding|protein binding|receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 13 CACAAATCTCTCCGCAAGTTG 0.368000 Juvenile Hyaline Fibromatosis 26 26 0 0 1 0 0 CCDC150 284992 broad.mit.edu 37 2 197521549 197521549 + Silent SNP T T A TCGA-EM-A22K-01A-11D-A17V-08 TCGA-EM-A22K-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04cb54da-f53f-4bdd-9f67-42bf9140da17 b31f64cf-a428-415f-8380-0eb6d368cfd2 g.chr2:197521549T>A uc002utp.1 + 2 504 c.369T>A c.(367-369)acT>acA p.T123T CCDC150_uc002uto.1_Silent_p.T123T|CCDC150_uc010zgq.1_Non-coding_Transcript|CCDC150_uc010zgr.1_Intron|CCDC150_uc010zgs.1_Intron NM_001080539 NP_001074008 Q8NCX0 CC150_HUMAN Homo sapiens coiled-coil domain containing 150 (CCDC150), mRNA. 123 breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GGCTGCAAACTGAAAAGGATT 0.388000 4 46 0 0 1 0 0 MYRIP 25924 broad.mit.edu 37 3 40223732 40223732 + Missense_Mutation SNP A A G TCGA-EM-A22K-01A-11D-A17V-08 TCGA-EM-A22K-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04cb54da-f53f-4bdd-9f67-42bf9140da17 b31f64cf-a428-415f-8380-0eb6d368cfd2 g.chr3:40223732A>G uc003cka.3 + 8 1030 c.895A>G c.(895-897)Atc>Gtc p.I299V MYRIP_uc010hhu.3_Non-coding_Transcript|MYRIP_uc010hhv.3_Missense_Mutation_p.I299V|MYRIP_uc010hhw.3_Missense_Mutation_p.I210V|MYRIP_uc011ayz.2_Missense_Mutation_p.I112V|FLJ33065_uc003ckb.3_Intron NM_015460 NP_056275 Q8NFW9 MYRIP_HUMAN Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA. 299 Myosin-binding. intracellular protein transport actin binding|zinc ion binding p.I299I(1) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206) TGCCTTCTCAATCACTGGAGA 0.592000 4 128 0 0 1 0 0 ZNF322 79692 broad.mit.edu 37 6 26638435 26638435 + Missense_Mutation SNP C C G TCGA-EM-A22K-01A-11D-A17V-08 TCGA-EM-A22K-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04cb54da-f53f-4bdd-9f67-42bf9140da17 b31f64cf-a428-415f-8380-0eb6d368cfd2 g.chr6:26638435C>G uc021ynx.1 - 4 1068 c.347G>C c.(346-348)gGa>gCa p.G116A ZNF322_uc003nij.3_5'Flank|ZNF322_uc003nil.4_Missense_Mutation_p.G116A|ZNF322_uc021yny.1_Missense_Mutation_p.G116A|ZNF322_uc021ynz.1_Missense_Mutation_p.G116A|ZNF322_uc021yoa.1_Missense_Mutation_p.G116A NM_001242797 NP_001229726 Q6U7Q0 Z322A_HUMAN Homo sapiens zinc finger protein 322 (ZNF322), transcript variant 1, mRNA. 116 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding TCTCTGATGTCCTGAAAGCGC 0.413000 3 126 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227979396 227979396 + Missense_Mutation SNP T T C TCGA-EM-A22K-01A-11D-A17V-08 TCGA-EM-A22K-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04cb54da-f53f-4bdd-9f67-42bf9140da17 b31f64cf-a428-415f-8380-0eb6d368cfd2 g.chr2:227979396T>C uc021vxr.1 - 6 607 c.506A>G c.(505-507)aAg>aGg p.K169R COL4A4_uc021vxs.1_Missense_Mutation_p.K169R NM_000092 NP_000083 P53420 CO4A4_HUMAN Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA. 169 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) TTTTTCTCCCTTTTCCCCAGG 0.299000 3 55 0 0 1 0 0 NOTCH2 4853 broad.mit.edu 37 1 120461954 120461954 + Missense_Mutation SNP T T G TCGA-EM-A22K-01A-11D-A17V-08 TCGA-EM-A22K-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04cb54da-f53f-4bdd-9f67-42bf9140da17 b31f64cf-a428-415f-8380-0eb6d368cfd2 g.chr1:120461954T>G uc001eik.3 - 30 6059 c.5762A>C c.(5761-5763)gAt>gCt p.D1921A NM_024408 NP_077719 Q04721 NOTC2_HUMAN Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA. 1921 Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) ACCTTGGGCATCAGCTGCCAC 0.468000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 3 83 0 0 1 0 0 XPNPEP1 7511 broad.mit.edu 37 10 111642324 111642324 + Missense_Mutation SNP C C T TCGA-EM-A22K-01A-11D-A17V-08 TCGA-EM-A22K-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04cb54da-f53f-4bdd-9f67-42bf9140da17 b31f64cf-a428-415f-8380-0eb6d368cfd2 g.chr10:111642324C>T uc001kyp.2 - 9 1027 c.907G>A c.(907-909)Gaa>Aaa p.E303K XPNPEP1_uc009xxt.2_Missense_Mutation_p.E303K|XPNPEP1_uc001kyq.2_Missense_Mutation_p.E189K|XPNPEP1_uc010qrb.2_Missense_Mutation_p.E303K|XPNPEP1_uc010qra.1_Missense_Mutation_p.E27K NM_020383 NP_065116 Q9NQW7 XPP1_HUMAN Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 1, soluble (XPNPEP1), transcript variant 1, mRNA. 260 bradykinin catabolic process|proteolysis manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1) 31 Breast(234;0.174) Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721) ATCCTGTATTCGGCTTCCAGA 0.572000 36 82 0 0 1 0 0 TIAM2 26230 broad.mit.edu 37 6 155458519 155458519 + Missense_Mutation SNP T T A TCGA-EM-A22K-01A-11D-A17V-08 TCGA-EM-A22K-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04cb54da-f53f-4bdd-9f67-42bf9140da17 b31f64cf-a428-415f-8380-0eb6d368cfd2 g.chr6:155458519T>A uc003qqb.3 + 6 2676 c.1403T>A c.(1402-1404)aTg>aAg p.M468K TIAM2_uc003qqe.3_Missense_Mutation_p.M468K|TIAM2_uc010kjj.3_Missense_Mutation_p.M1K NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA. 468 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) GAGTTGGAAATGAGCAGGACC 0.493000 6 171 0 0 1 0 0 DLGAP5 9787 broad.mit.edu 37 14 55637441 55637441 + Missense_Mutation SNP C C G TCGA-EM-A22K-01A-11D-A17V-08 TCGA-EM-A22K-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04cb54da-f53f-4bdd-9f67-42bf9140da17 b31f64cf-a428-415f-8380-0eb6d368cfd2 g.chr14:55637441C>G uc001xbs.3 - 10 1583 c.1366G>C c.(1366-1368)Gaa>Caa p.E456Q DLGAP5_uc001xbt.3_Missense_Mutation_p.E456Q NM_014750 NP_055565 Q15398 DLGP5_HUMAN Homo sapiens discs, large (Drosophila) homolog-associated protein 5 (DLGAP5), transcript variant 1, mRNA. 456 cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition nucleus|spindle pole centrosome phosphoprotein phosphatase activity|protein binding biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 44 ATGTCCAATTCAAGTTTCCTG 0.333000 28 40 0 0 1 0 0 AKAP11 11215 broad.mit.edu 37 13 42874704 42874704 + Nonsense_Mutation SNP A A T TCGA-EM-A22K-01A-11D-A17V-08 TCGA-EM-A22K-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04cb54da-f53f-4bdd-9f67-42bf9140da17 b31f64cf-a428-415f-8380-0eb6d368cfd2 g.chr13:42874704A>T uc001uys.2 + 7 1997 c.1822A>T c.(1822-1824)Aaa>Taa p.K608* NM_016248 NP_057332 Q9UKA4 AKA11_HUMAN Homo sapiens A kinase (PRKA) anchor protein 11 (AKAP11), mRNA. 608 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2) 56 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) ATTTTCACTAAAAGAACGTGC 0.383000 5 42 0 0 1 0 0