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 MT-CYB 4519 broad.mit.edu 37 MT 14924 14924 + Missense_Mutation SNP T T C TCGA-EM-A3FQ-06A-11D-A21A-08 TCGA-EM-A3FQ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31ea2466-3e87-4ec2-a15c-0722473852e7 2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e g.chrM:14924T>C ENST00000361789.2 + 1 178 c.178T>C c.(178-180)Tca>Cca p.60_60insP mitochondrially encoded cytochrome b breast(6)|endometrium(25)|kidney(33)|prostate(1) 65 CACCAGACGCCTCAACCGCCT 0.498000 4 53 0 0 1 0 0 COL27A1 85301 broad.mit.edu 37 9 116931244 116931244 + Missense_Mutation SNP A A C TCGA-EM-A3FQ-06A-11D-A21A-08 TCGA-EM-A3FQ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31ea2466-3e87-4ec2-a15c-0722473852e7 2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e g.chr9:116931244A>C ENST00000356083.3 + 3 1800 c.1409A>C c.(1408-1410)aAg>aCg p.K470T NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 470 Pro-rich. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 CATGCCAGTAAGCCGGCCTCT 0.592000 102 150 0 0 1 0 0 ZNF835 90485 broad.mit.edu 37 19 57176120 57176120 + Silent SNP C C T TCGA-EM-A3FQ-06A-11D-A21A-08 TCGA-EM-A3FQ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31ea2466-3e87-4ec2-a15c-0722473852e7 2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e g.chr19:57176120C>T ENST00000537055.2 - 2 678 c.447G>A c.(445-447)caG>caA p.Q149Q NM_001005850.2 NP_001005850.2 zinc finger protein 835 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 47 GGTGCACGCTCTGGCTGAAGG 0.637000 7 65 0 0 1 0 0 RP11-262H14.1 0 broad.mit.edu 37 9 66458063 66458063 + RNA SNP G G T TCGA-EM-A3FQ-06A-11D-A21A-08 TCGA-EM-A3FQ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31ea2466-3e87-4ec2-a15c-0722473852e7 2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e g.chr9:66458063G>T ENST00000424345.1 + 0 67 GCACGGGGGCGGTCAACGGGG 0.657000 3 5 1 1 1 1 0 RP11-119F19.2 0 broad.mit.edu 37 10 81444997 81444997 + RNA SNP T T C TCGA-EM-A3FQ-06A-11D-A21A-08 TCGA-EM-A3FQ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31ea2466-3e87-4ec2-a15c-0722473852e7 2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e g.chr10:81444997T>C ENST00000600376.1 - 0 54 RP11-119F19.2_ENST00000596088.1_RNA ACAACAATTTTCGGGCTTGCA 0.612000 3 6 0 0 1 0 0 DZIP3 9666 broad.mit.edu 37 3 108391411 108391411 + Missense_Mutation SNP C C A TCGA-EM-A3FQ-06A-11D-A21A-08 TCGA-EM-A3FQ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31ea2466-3e87-4ec2-a15c-0722473852e7 2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e g.chr3:108391411C>A ENST00000361582.3 + 23 2727 c.2497C>A c.(2497-2499)Cag>Aag p.Q833K DZIP3_ENST00000463306.1_Missense_Mutation_p.Q833K NM_014648.3 NP_055463.1 Q86Y13 DZIP3_HUMAN DAZ interacting zinc finger protein 3 833 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 45 TTTCAGATCTCAGTGGGAAAT 0.363000 4 32 0.00024832 0.000260736 1 1 0 MUC7 4589 broad.mit.edu 37 4 71347138 71347138 + Missense_Mutation SNP C C T TCGA-EM-A3FQ-06A-11D-A21A-08 TCGA-EM-A3FQ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31ea2466-3e87-4ec2-a15c-0722473852e7 2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e g.chr4:71347138C>T ENST00000413702.1 + 4 965 c.677C>T c.(676-678)cCa>cTa p.P226L MUC7_ENST00000456088.1_Missense_Mutation_p.P226L|MUC7_ENST00000304887.5_Missense_Mutation_p.P226L NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 226 Thr-rich. extracellular region protein binding p.P226L(1) central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) CCAGCTCCACCATCTTCCTCA 0.582000 5 236 0 0 1 0 0 SLC7A6 9057 broad.mit.edu 37 16 68309107 68309107 + Missense_Mutation SNP G G C TCGA-EM-A3FQ-06A-11D-A21A-08 TCGA-EM-A3FQ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31ea2466-3e87-4ec2-a15c-0722473852e7 2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e g.chr16:68309107G>C ENST00000566454.1 + 4 747 c.478G>C c.(478-480)Gat>Cat p.D160H SLC7A6_ENST00000219343.6_Missense_Mutation_p.D160H NM_001076785.2 NP_001070253.1 Q92536 YLAT2_HUMAN solute carrier family 7 (amino acid transporter light chain, y+L system), member 6 160 blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly basolateral plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|antiporter activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1) 16 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948) CCCCAGCTGTGATCCCCCATA 0.582000 8 177 0 0 1 0 0 MT-CO2 4513 broad.mit.edu 37 MT 7843 7843 + Missense_Mutation SNP A A G TCGA-EM-A3FQ-06A-11D-A21A-08 TCGA-EM-A3FQ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31ea2466-3e87-4ec2-a15c-0722473852e7 2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e g.chrM:7843A>G ENST00000361739.1 + 1 258 c.258A>G c.(256-258)atA>atG p.I86M mitochondrially encoded cytochrome c oxidase II endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1) 19 ATCCTTTACATAACAGACGAG 0.498000 3 84 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871082 170871082 + Silent SNP G G A TCGA-EM-A3FQ-06A-11D-A21A-08 TCGA-EM-A3FQ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31ea2466-3e87-4ec2-a15c-0722473852e7 2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e g.chr6:170871082G>A ENST00000392092.2 + 3 537 c.258G>A c.(256-258)caG>caA p.Q86Q TBP_ENST00000540980.1_Silent_p.Q66Q|TBP_ENST00000230354.6_Silent_p.Q86Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 86 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q86Q(2) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcagcagcagcagcagcagc 0.612000 3 21 0 0 1 0 0 CDHR5 53841 broad.mit.edu 37 11 618899 618899 + Missense_Mutation SNP C C T TCGA-EM-A3FQ-06A-11D-A21A-08 TCGA-EM-A3FQ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31ea2466-3e87-4ec2-a15c-0722473852e7 2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e g.chr11:618899C>T ENST00000358353.3 - 14 1982 c.1660G>A c.(1660-1662)Ggt>Agt p.G554S CDHR5_ENST00000349570.7_Intron|CDHR5_ENST00000397542.2_Missense_Mutation_p.G554S Q9HBB8 CDHR5_HUMAN cadherin-related family member 5 554 4 X 31 AA approximate tandem repeats. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 23 GTTCCCACACCGGGGGGCATC 0.667000 4 187 0 0 1 0 0 PPP2R3B 28227 broad.mit.edu 37 X 347131 347131 + Missense_Mutation SNP C C T TCGA-EM-A3FQ-06A-11D-A21A-08 TCGA-EM-A3FQ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31ea2466-3e87-4ec2-a15c-0722473852e7 2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e g.chrX:347131C>T ENST00000390665.3 - 1 314 c.296G>A c.(295-297)gGc>gAc p.G99D NM_013239.4 NP_037371.2 Q9Y5P8 P2R3B_HUMAN protein phosphatase 2, regulatory subunit B'', beta 99 cell cycle arrest|protein dephosphorylation nucleus|protein phosphatase type 2A complex calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity endometrium(5)|lung(5)|skin(1) 11 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TCTACGGGTGCCTCGAACGTG 0.701000 6 65 0 0 1 0 0 PRDM9 56979 broad.mit.edu 37 5 23527693 23527693 + Silent SNP T T C TCGA-EM-A3FQ-06A-11D-A21A-08 TCGA-EM-A3FQ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31ea2466-3e87-4ec2-a15c-0722473852e7 2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e g.chr5:23527693T>C ENST00000296682.3 + 11 2678 c.2496T>C c.(2494-2496)taT>taC p.Y832Y NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 832 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding p.Y832Y(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 AGAAGCCCTATGTCTGCAGGG 0.587000 HNSCC(3;0.000094) 4 146 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 126138656 126138656 + Silent SNP G G A TCGA-EM-A3FQ-06A-11D-A21A-08 TCGA-EM-A3FQ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31ea2466-3e87-4ec2-a15c-0722473852e7 2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e g.chr12:126138656G>A ENST00000299308.3 + 9 2645 c.2637G>A c.(2635-2637)ccG>ccA p.P879P TMEM132B_ENST00000535886.1_Silent_p.P391P NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 879 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) GGAAGTCACCGGACCCCAATA 0.517000 25 26 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22155896 22155896 + Missense_Mutation SNP A A C TCGA-EM-A3FQ-06A-11D-A21A-08 TCGA-EM-A3FQ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31ea2466-3e87-4ec2-a15c-0722473852e7 2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e g.chr19:22155896A>C ENST00000397126.4 - 4 2088 c.1940T>G c.(1939-1941)aTt>aGt p.I647S ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) TGAGACCTTAATAAAGGTTTT 0.398000 3 41 0 0 1 0 0 PCDH11X 27328 broad.mit.edu 37 X 91133712 91133712 + Missense_Mutation SNP G G A TCGA-EM-A3FQ-06A-11D-A21A-08 TCGA-EM-A3FQ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31ea2466-3e87-4ec2-a15c-0722473852e7 2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e g.chrX:91133712G>A ENST00000373094.1 + 2 3318 c.2473G>A c.(2473-2475)Gtt>Att p.V825I PCDH11X_ENST00000395337.2_Missense_Mutation_p.V825I|PCDH11X_ENST00000504220.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000361724.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000298274.8_Missense_Mutation_p.V825I|PCDH11X_ENST00000373097.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000406881.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000373088.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000361655.2_Missense_Mutation_p.V825I NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 825 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 CATAACTGTCGTTGTAGTTAT 0.463000 24 42 0 0 1 0 0 WDFY2 115825 broad.mit.edu 37 13 52301855 52301855 + Missense_Mutation SNP C C T TCGA-EM-A3FQ-06A-11D-A21A-08 TCGA-EM-A3FQ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31ea2466-3e87-4ec2-a15c-0722473852e7 2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e g.chr13:52301855C>T ENST00000298125.5 + 6 707 c.527C>T c.(526-528)tCa>tTa p.S176L NM_052950.3 NP_443182.1 Q96P53 WDFY2_HUMAN WD repeat and FYVE domain containing 2 176 metal ion binding breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 16 Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191) GBM - Glioblastoma multiforme(99;9e-08) GGTGACCACTCAGGCCAAGTA 0.403000 10 74 0 0 1 0 0 PROX1-AS1 0 broad.mit.edu 37 1 214090692 214090694 + RNA DEL TCC TCC - TCGA-EM-A3FQ-06A-11D-A21A-08 TCGA-EM-A3FQ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31ea2466-3e87-4ec2-a15c-0722473852e7 2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e g.chr1:214090692_214090694delTCC ENST00000433082.2 - 0 195 PROX1-AS1_ENST00000600591.1_RNA|PROX1-AS1_ENST00000601854.1_RNA|PROX1-AS1_ENST00000601744.1_RNA|PROX1-AS1_ENST00000413560.1_RNA|PROX1-AS1_ENST00000601907.1_RNA|PROX1-AS1_ENST00000593620.1_RNA|PROX1-AS1_ENST00000601335.1_RNA|PROX1-AS1_ENST00000598105.1_RNA ctccttctgttcctcctcctcct 0.488 3 6 --- --- --- --- RP1-230L10.1 0 broad.mit.edu 37 6 164134479 164134480 + RNA INS - - C TCGA-EM-A3FQ-06A-11D-A21A-08 TCGA-EM-A3FQ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31ea2466-3e87-4ec2-a15c-0722473852e7 2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e g.chr6:164134479_164134480insC ENST00000452944.1 + 0 102 tctcctccccaccccaccctct 0.644 4 9 --- --- --- --- PRSS51 0 broad.mit.edu 37 8 10373507 10373508 + RNA INS - - T TCGA-EM-A3FQ-06A-11D-A21A-08 TCGA-EM-A3FQ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31ea2466-3e87-4ec2-a15c-0722473852e7 2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e g.chr8:10373507_10373508insT ENST00000523024.1 - 0 156 PRSS51_ENST00000521149.1_RNA AGTGTTGTTGAttttttgtttt 0.505 2 4 --- --- --- --- AKT1 207 broad.mit.edu 37 14 105242073 105242075 + In_Frame_Del DEL CTC CTC - TCGA-EM-A3FQ-06A-11D-A21A-08 TCGA-EM-A3FQ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31ea2466-3e87-4ec2-a15c-0722473852e7 2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e g.chr14:105242073_105242075delCTC ENST00000554581.1 - 4 1829_1831 c.349_351delGAG c.(349-351)del p.E117del AKT1_ENST00000554848.1_In_Frame_Del_p.E117del|AKT1_ENST00000544168.1_In_Frame_Del_p.E55del|AKT1_ENST00000402615.2_In_Frame_Del_p.E117del|AKT1_ENST00000349310.3_In_Frame_Del_p.E117del|AKT1_ENST00000555528.1_In_Frame_Del_p.E117del|AKT1_ENST00000407796.2_In_Frame_Del_p.E117del P31749 AKT1_HUMAN v-akt murine thymoma viral oncogene homolog 1 117 activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation cytosol|nucleoplasm|plasma membrane enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15) 176 all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155) all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116) all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243) Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169) GGAAGTCCATCTCCTCCTCCTCC 0.631 1 Mis """breast, colorectal, ovarian, NSCLC""" 8 152 --- --- --- --- RP11-314A20.2 0 broad.mit.edu 37 17 4608074 4608075 + RNA DEL GT GT - TCGA-EM-A3FQ-06A-11D-A21A-08 TCGA-EM-A3FQ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31ea2466-3e87-4ec2-a15c-0722473852e7 2125f0b1-c6b9-4b65-a6db-9fd4422e7c7e g.chr17:4608074_4608075delGT ENST00000497885.1 + 0 141 NR_103482.1 AATCAGTAACGTGTGTGTGTGT 0.515 3 6 --- --- --- ---