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 SERPINB9 5272 broad.mit.edu 37 6 2893754 2893754 + Missense_Mutation SNP A A G rs144457124 byFrequency TCGA-S7-A7WM-01A-12D-A35I-08 TCGA-S7-A7WM-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73844b5a-f99e-4cd5-80f7-7770fefa45c2 d0bd9240-b845-4145-b995-8df43f151116 g.chr6:2893754A>G ENST00000380698.4 - 5 547 c.458T>C c.(457-459)aTt>aCt p.I153T NM_004155.5 NP_004146.1 P50453 SPB9_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 9 153 anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis cytosol|extracellular space|nucleus caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1) 15 Ovarian(93;0.0412) all_hematologic(90;0.108) TTCTGCATCAATTGAGCTACC 0.398000 30 55 0 0 1 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85450448 85450448 + Missense_Mutation SNP A A G TCGA-S7-A7WM-01A-12D-A35I-08 TCGA-S7-A7WM-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73844b5a-f99e-4cd5-80f7-7770fefa45c2 d0bd9240-b845-4145-b995-8df43f151116 g.chr12:85450448A>G ENST00000393217.2 + 8 1938 c.1877A>G c.(1876-1878)gAa>gGa p.E626G NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 626 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) GATGTAAGAGAAAACGTAATA 0.289000 11 6 0 0 1 0 0 BOD1L1 259282 broad.mit.edu 37 4 13600882 13600882 + Nonsense_Mutation SNP C C A TCGA-S7-A7WM-01A-12D-A35I-08 TCGA-S7-A7WM-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73844b5a-f99e-4cd5-80f7-7770fefa45c2 d0bd9240-b845-4145-b995-8df43f151116 g.chr4:13600882C>A ENST00000040738.5 - 10 7777 c.7642G>T c.(7642-7644)Gag>Tag p.E2548* NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 2548 DNA binding AAGGAATGCTCAGCCACGGTC 0.483000 OREG0016115 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 7 0.0381472 0.0381472 1 1 0 SEMA6D 80031 broad.mit.edu 37 15 48056089 48056089 + Missense_Mutation SNP G G A TCGA-S7-A7WM-01A-12D-A35I-08 TCGA-S7-A7WM-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73844b5a-f99e-4cd5-80f7-7770fefa45c2 d0bd9240-b845-4145-b995-8df43f151116 g.chr15:48056089G>A ENST00000316364.5 + 10 1229 c.790G>A c.(790-792)Ggt>Agt p.G264S SEMA6D_ENST00000354744.4_Missense_Mutation_p.G264S|SEMA6D_ENST00000389428.3_Missense_Mutation_p.G264S|SEMA6D_ENST00000536845.2_Missense_Mutation_p.G264S|SEMA6D_ENST00000389433.2_Missense_Mutation_p.G264S|SEMA6D_ENST00000537942.1_Missense_Mutation_p.G264S|SEMA6D_ENST00000355997.3_Missense_Mutation_p.G264S|SEMA6D_ENST00000558816.1_Missense_Mutation_p.G264S|SEMA6D_ENST00000389425.3_Missense_Mutation_p.G264S|SEMA6D_ENST00000358066.4_Missense_Mutation_p.G264S|SEMA6D_ENST00000558014.1_Missense_Mutation_p.G264S|SEMA6D_ENST00000389432.2_Missense_Mutation_p.G264S NM_153618.1 NP_705871.1 Q8NFY4 SEM6D_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D 264 Sema. axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 77 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) AAACGACATGGGTGGTTCCCA 0.488000 10 78 0 0 1 0 0 TMEM105 284186 broad.mit.edu 37 17 79287591 79287591 + Missense_Mutation SNP G G T TCGA-S7-A7WM-01A-12D-A35I-08 TCGA-S7-A7WM-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73844b5a-f99e-4cd5-80f7-7770fefa45c2 d0bd9240-b845-4145-b995-8df43f151116 g.chr17:79287591G>T ENST00000332900.1 - 3 799 c.250C>A c.(250-252)Cat>Aat p.H84N NM_178520.3 NP_848615.1 Q8N8V8 TM105_HUMAN transmembrane protein 105 84 integral to membrane NS(1)|large_intestine(3)|lung(1)|ovary(2) 7 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892) GGCCCTTCATGTCTTCGCCTT 0.652000 31 59 6.38683e-12 7.4513e-12 1 1 0 CNTN2 6900 broad.mit.edu 37 1 205031578 205031578 + Missense_Mutation SNP A A T TCGA-S7-A7WM-01A-12D-A35I-08 TCGA-S7-A7WM-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73844b5a-f99e-4cd5-80f7-7770fefa45c2 d0bd9240-b845-4145-b995-8df43f151116 g.chr1:205031578A>T ENST00000331830.4 + 10 1405 c.1121A>T c.(1120-1122)gAg>gTg p.E374V NM_005076.3 NP_005067.1 Q02246 CNTN2_HUMAN contactin 2 (axonal) 374 Ig-like C2-type 4. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 54 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) AACCGGGTGGAGGTGTTGGCT 0.622000 19 36 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179611732 179611732 + Missense_Mutation SNP G G A TCGA-S7-A7WM-01A-12D-A35I-08 TCGA-S7-A7WM-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73844b5a-f99e-4cd5-80f7-7770fefa45c2 d0bd9240-b845-4145-b995-8df43f151116 g.chr2:179611732G>A ENST00000360870.5 - 46 15617 c.15395C>T c.(15394-15396)aCa>aTa p.T5132I TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 1238 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGATGGATATGTTTTAAAAGT 0.453000 11 82 0 0 1 0 0 SDHA 6389 broad.mit.edu 37 5 256498 256498 + Missense_Mutation SNP A A C TCGA-S7-A7WM-01A-12D-A35I-08 TCGA-S7-A7WM-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73844b5a-f99e-4cd5-80f7-7770fefa45c2 d0bd9240-b845-4145-b995-8df43f151116 g.chr5:256498A>C ENST00000264932.6 + 15 2073 c.1958A>C c.(1957-1959)gAc>gCc p.D653A SDHA_ENST00000507522.1_3'UTR|SDHA_ENST00000504309.1_Missense_Mutation_p.D572A|SDHA_ENST00000510361.1_Missense_Mutation_p.D605A NM_004168.2 NP_004159.2 P31040 DHSA_HUMAN succinate dehydrogenase complex, subunit A, flavoprotein (Fp) 653 nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 40 Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113) Succinic acid(DB00139) AACGAGGCTGACTGTGCCACC 0.433000 Familial Paragangliomas 4 62 0 0 1 0 0 AFTPH 54812 broad.mit.edu 37 2 64800181 64800181 + Silent SNP A A G TCGA-S7-A7WM-01A-12D-A35I-08 TCGA-S7-A7WM-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73844b5a-f99e-4cd5-80f7-7770fefa45c2 d0bd9240-b845-4145-b995-8df43f151116 g.chr2:64800181A>G ENST00000422803.1 + 6 2687 c.2373A>G c.(2371-2373)acA>acG p.T791T AFTPH_ENST00000409183.1_Silent_p.T422T|AFTPH_ENST00000487769.1_3'UTR|AFTPH_ENST00000409933.1_Silent_p.T791T|AFTPH_ENST00000238856.4_Silent_p.T791T|AFTPH_ENST00000238855.7_Silent_p.T791T Q6ULP2 AFTIN_HUMAN aftiphilin 791 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 35 ATATGAACACATGTACATCTG 0.388000 51 68 0 0 1 0 0 AHCTF1 25909 broad.mit.edu 37 1 247014132 247014132 + Missense_Mutation SNP T T C TCGA-S7-A7WM-01A-12D-A35I-08 TCGA-S7-A7WM-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73844b5a-f99e-4cd5-80f7-7770fefa45c2 d0bd9240-b845-4145-b995-8df43f151116 g.chr1:247014132T>C ENST00000366508.1 - 33 5417 c.5281A>G c.(5281-5283)Atg>Gtg p.M1761V AHCTF1_ENST00000391829.2_Missense_Mutation_p.M1726V|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.M1735V Q8WYP5 ELYS_HUMAN AT hook containing transcription factor 1 1726 Necessary for nuclear localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 74 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) CTGACATTCATAGTCATTGTG 0.413000 18 43 0 0 1 0 0 FAM73B 84895 broad.mit.edu 37 9 131832580 131832580 + Missense_Mutation SNP A A C TCGA-S7-A7WM-01A-12D-A35I-08 TCGA-S7-A7WM-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73844b5a-f99e-4cd5-80f7-7770fefa45c2 d0bd9240-b845-4145-b995-8df43f151116 g.chr9:131832580A>C ENST00000358369.4 + 16 1856 c.1630A>C c.(1630-1632)Acg>Ccg p.T544P FAM73B_ENST00000406926.2_3'UTR|FAM73B_ENST00000277475.5_3'UTR NM_032809.2 NP_116198.2 Q7L4E1 FA73B_HUMAN family with sequence similarity 73, member B 544 integral to membrane breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1) 13 TGTGCGCTACACGTCACTGCC 0.672000 14 26 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14513675 14513675 + Missense_Mutation SNP T T C TCGA-S7-A7WM-01A-12D-A35I-08 TCGA-S7-A7WM-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73844b5a-f99e-4cd5-80f7-7770fefa45c2 d0bd9240-b845-4145-b995-8df43f151116 g.chr18:14513675T>C ENST00000358970.5 - 10 1518 c.1519A>G c.(1519-1521)Aaa>Gaa p.K507E NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 507 p.K507E(2) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 GAATTCATTTTCTTTTCAGCC 0.284000 4 79 0 0 1 0 0 GNB3 2784 broad.mit.edu 37 12 6954872 6954872 + Silent SNP G G T TCGA-S7-A7WM-01A-12D-A35I-08 TCGA-S7-A7WM-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73844b5a-f99e-4cd5-80f7-7770fefa45c2 d0bd9240-b845-4145-b995-8df43f151116 g.chr12:6954872G>T ENST00000229264.3 + 10 1227 c.822G>T c.(820-822)acG>acT p.T274T CDCA3_ENST00000422785.3_3'UTR|GNB3_ENST00000435982.2_Silent_p.T273T|CDCA3_ENST00000604599.1_5'UTR NM_002075.2 NP_002066.1 P16520 GBB3_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 3 274 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission plasma membrane GTPase activity|GTPase binding|signal transducer activity cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1) 20 GCGGCATCACGTCCGTGGCCT 0.592000 5 117 1.23904e-05 1.36947e-05 1 1 0 ABCA13 154664 broad.mit.edu 37 7 48258974 48258974 + Missense_Mutation SNP C C T TCGA-S7-A7WM-01A-12D-A35I-08 TCGA-S7-A7WM-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73844b5a-f99e-4cd5-80f7-7770fefa45c2 d0bd9240-b845-4145-b995-8df43f151116 g.chr7:48258974C>T ENST00000435803.1 + 4 335 c.311C>T c.(310-312)gCt>gTt p.A104V NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 104 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 CAAACTGCAGCTGACCCCAAG 0.353000 13 24 0 0 1 0 0 RP11-435B5.5 0 broad.mit.edu 37 1 143391923 143391924 + RNA DEL AT AT - TCGA-S7-A7WM-01A-12D-A35I-08 TCGA-S7-A7WM-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73844b5a-f99e-4cd5-80f7-7770fefa45c2 d0bd9240-b845-4145-b995-8df43f151116 g.chr1:143391923_143391924delAT ENST00000428624.1 + 0 2065 RP11-435B5.4_ENST00000423249.1_lincRNA TATTTTGGAGATATATATATAT 0.262 2 4 --- --- --- --- RRN3P2 653390 broad.mit.edu 37 16 29113498 29113498 + RNA DEL T T - rs11366120 TCGA-S7-A7WM-01A-12D-A35I-08 TCGA-S7-A7WM-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73844b5a-f99e-4cd5-80f7-7770fefa45c2 d0bd9240-b845-4145-b995-8df43f151116 g.chr16:29113498delT ENST00000564580.1 + 0 1360 AGGAGGTGGAttttttttttc 0.542 3 6 --- --- --- --- NF1 4763 broad.mit.edu 37 17 29541548 29541549 + Frame_Shift_Ins INS - - TT TCGA-S7-A7WM-01A-12D-A35I-08 TCGA-S7-A7WM-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73844b5a-f99e-4cd5-80f7-7770fefa45c2 d0bd9240-b845-4145-b995-8df43f151116 g.chr17:29541548_29541549insTT ENST00000358273.4 + 13 1855_1856 c.1472_1473insTT c.(1471-1473)tctfs p.S491fs NF1_ENST00000356175.3_Frame_Shift_Ins_p.S491fs|NF1_ENST00000431387.4_Frame_Shift_Ins_p.S491fs NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 491 Y -> C (in NF1). actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(5) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) AGCTATAAGTATCTTCTCTTGT 0.297 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 21 12 --- --- --- --- GTPBP1 9567 broad.mit.edu 37 22 39101968 39101968 + Frame_Shift_Del DEL C C - TCGA-S7-A7WM-01A-12D-A35I-08 TCGA-S7-A7WM-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73844b5a-f99e-4cd5-80f7-7770fefa45c2 d0bd9240-b845-4145-b995-8df43f151116 g.chr22:39101968delC ENST00000216044.5 + 1 241 c.8delC c.(7-9)agfs p.T3fs NM_004286.4 NP_004277.2 O00178 GTPB1_HUMAN GTP binding protein 1 3 immune response|positive regulation of mRNA catabolic process|signal transduction cytoplasmic exosome (RNase complex)|cytosol GTP binding|GTPase activity endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 18 Melanoma(58;0.04) AAGATGGCGACGGAGCGCAGT 0.672 2 4 --- --- --- ---