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 CROCCP2 0 broad.mit.edu 37 1 16946407 16946407 + RNA SNP T T G rs10796418 by1000genomes TCGA-HT-A61A-01A-11D-A29Q-08 TCGA-HT-A61A-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c19bfe8-48ac-4daa-a501-207daba21c54 c405c276-2fbb-43f3-8810-d309682f8196 g.chr1:16946407T>G ENST00000412962.1 - 0 1112 AGCAATCTCCTCACTCAGCTG 0.672000 3 28 0 0 1 0 0 ALDH6A1 4329 broad.mit.edu 37 14 74535667 74535667 + Missense_Mutation SNP C C A TCGA-HT-A61A-01A-11D-A29Q-08 TCGA-HT-A61A-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c19bfe8-48ac-4daa-a501-207daba21c54 c405c276-2fbb-43f3-8810-d309682f8196 g.chr14:74535667C>A ENST00000553458.1 - 7 846 c.748G>T c.(748-750)Gat>Tat p.D250Y CCDC176_ENST00000553773.1_Intron|ALDH6A1_ENST00000350259.4_Missense_Mutation_p.D237Y|ALDH6A1_ENST00000555126.1_5'UTR|AC005484.5_ENST00000492026.1_RNA NM_001278593.1|NM_005589.2 NP_001265522.1|NP_005580.1 Q02252 MMSA_HUMAN aldehyde dehydrogenase 6 family, member A1 250 mitochondrial matrix|nucleus fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3) 21 BRCA - Breast invasive adenocarcinoma(234;0.00354) NADH(DB00157) TCCGGATGATCGCAAATAAAA 0.418000 5 27 0.014758 0.014758 1 1 0 GHR 2690 broad.mit.edu 37 5 42699991 42699991 + Missense_Mutation SNP G G T TCGA-HT-A61A-01A-11D-A29Q-08 TCGA-HT-A61A-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c19bfe8-48ac-4daa-a501-207daba21c54 c405c276-2fbb-43f3-8810-d309682f8196 g.chr5:42699991G>T ENST00000230882.4 + 6 695 c.505G>T c.(505-507)Gca>Tca p.A169S GHR_ENST00000537449.1_5'UTR|GHR_ENST00000357703.3_Missense_Mutation_p.A147S NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2 NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1 P10912 GHR_HUMAN growth hormone receptor 169 Fibronectin type-III. 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) TGGGATTCATGCAGATATCCA 0.428000 8 63 0.000274275 0.000287989 1 1 0 SPG11 80208 broad.mit.edu 37 15 44858098 44858098 + Missense_Mutation SNP C C T TCGA-HT-A61A-01A-11D-A29Q-08 TCGA-HT-A61A-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c19bfe8-48ac-4daa-a501-207daba21c54 c405c276-2fbb-43f3-8810-d309682f8196 g.chr15:44858098C>T ENST00000261866.7 - 38 6969 c.6953G>A c.(6952-6954)cGc>cAc p.R2318H SPG11_ENST00000535302.2_Missense_Mutation_p.R2205H|SPG11_ENST00000427534.2_Intron NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 2318 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) CAGCTTGTGGCGGCCCAAGTT 0.527000 3 34 0 0 1 0 0 POLR3A 11128 broad.mit.edu 37 10 79777419 79777419 + Missense_Mutation SNP T T C TCGA-HT-A61A-01A-11D-A29Q-08 TCGA-HT-A61A-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c19bfe8-48ac-4daa-a501-207daba21c54 c405c276-2fbb-43f3-8810-d309682f8196 g.chr10:79777419T>C ENST00000372371.3 - 10 1482 c.1345A>G c.(1345-1347)Atc>Gtc p.I449V POLR3A_ENST00000484760.1_5'UTR NM_007055.3 NP_008986.2 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide A, 155kDa 449 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) CTCTCTACGATGTCACCATAC 0.448000 14 82 0 0 1 0 0 EPN2 22905 broad.mit.edu 37 17 19213263 19213263 + Missense_Mutation SNP C C G TCGA-HT-A61A-01A-11D-A29Q-08 TCGA-HT-A61A-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c19bfe8-48ac-4daa-a501-207daba21c54 c405c276-2fbb-43f3-8810-d309682f8196 g.chr17:19213263C>G ENST00000314728.5 + 5 1316 c.832C>G c.(832-834)Ctt>Gtt p.L278V EPN2_ENST00000575595.1_5'UTR|EPN2_ENST00000395626.1_Missense_Mutation_p.L278V|EPN2_ENST00000571254.1_Missense_Mutation_p.L221V|EPN2_ENST00000395620.2_Missense_Mutation_p.L221V|EPN2_ENST00000395618.3_5'UTR|EPN2_ENST00000347697.2_Missense_Mutation_p.L221V NM_014964.4 NP_055779.2 O95208 EPN2_HUMAN epsin 2 278 endocytosis lipid binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 19 all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143) AGAAGAGGAGCTTCAGCTGCA 0.597000 9 104 0 0 1 0 0 BRCA2 675 broad.mit.edu 37 13 32907165 32907165 + Missense_Mutation SNP A A G rs80358439 TCGA-HT-A61A-01A-11D-A29Q-08 TCGA-HT-A61A-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c19bfe8-48ac-4daa-a501-207daba21c54 c405c276-2fbb-43f3-8810-d309682f8196 g.chr13:32907165A>G ENST00000544455.1 + 10 1777 c.1550A>G c.(1549-1551)aAt>aGt p.N517S BRCA2_ENST00000380152.3_Missense_Mutation_p.N517S NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 517 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) GAGACTTTCAATGCAAGTTTT 0.373000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 10 119 0 0 1 0 0 FAM86HP 0 broad.mit.edu 37 3 129821661 129821661 + RNA SNP T T C TCGA-HT-A61A-01A-11D-A29Q-08 TCGA-HT-A61A-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c19bfe8-48ac-4daa-a501-207daba21c54 c405c276-2fbb-43f3-8810-d309682f8196 g.chr3:129821661T>C ENST00000500074.2 - 0 484 GTAAAGGCCATGTAGACCTCA 0.667000 5 177 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186084409 186084409 + Silent SNP G G A TCGA-HT-A61A-01A-11D-A29Q-08 TCGA-HT-A61A-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c19bfe8-48ac-4daa-a501-207daba21c54 c405c276-2fbb-43f3-8810-d309682f8196 g.chr1:186084409G>A ENST00000271588.4 + 75 11653 c.11424G>A c.(11422-11424)ccG>ccA p.P3808P HMCN1_ENST00000367492.2_Silent_p.P3808P NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 3808 Ig-like C2-type 37. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 CTATTGCTCCGGGTCCTACCA 0.398000 11 94 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211548 78211548 + RNA SNP T T C TCGA-HT-A61A-01A-11D-A29Q-08 TCGA-HT-A61A-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c19bfe8-48ac-4daa-a501-207daba21c54 c405c276-2fbb-43f3-8810-d309682f8196 g.chr15:78211548T>C ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCACCTGGGATTGGAGCTTTC 0.562000 4 161 0 0 1 0 0 CEP72 55722 broad.mit.edu 37 5 620298 620298 + Missense_Mutation SNP C C T rs148249239 TCGA-HT-A61A-01A-11D-A29Q-08 TCGA-HT-A61A-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c19bfe8-48ac-4daa-a501-207daba21c54 c405c276-2fbb-43f3-8810-d309682f8196 g.chr5:620298C>T ENST00000264935.5 + 3 415 c.325C>T c.(325-327)Cgg>Tgg p.R109W CEP72_ENST00000444221.1_Missense_Mutation_p.R109W NM_018140.3 NP_060610.2 Q9P209 CEP72_HUMAN centrosomal protein 72kDa 109 G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization centrosome|cytosol autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 20 Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863) TGTGGACTTCCGGCTGAACCC 0.572000 4 111 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348646 197348646 + RNA SNP T T C rs138265355 by1000genomes TCGA-HT-A61A-01A-11D-A29Q-08 TCGA-HT-A61A-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c19bfe8-48ac-4daa-a501-207daba21c54 c405c276-2fbb-43f3-8810-d309682f8196 g.chr3:197348646T>C ENST00000418868.1 - 0 613 NR_003266.2 TGGGCCTGCCTGCCCTTTCCA 0.532000 8 115 0 0 1 0 0 TNFAIP3 7128 broad.mit.edu 37 6 138201287 138201287 + Silent SNP C C T TCGA-HT-A61A-01A-11D-A29Q-08 TCGA-HT-A61A-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c19bfe8-48ac-4daa-a501-207daba21c54 c405c276-2fbb-43f3-8810-d309682f8196 g.chr6:138201287C>T ENST00000237289.4 + 8 2052 c.1986C>T c.(1984-1986)tgC>tgT p.C662C NM_001270507.1|NM_001270508.1|NM_006290.3 NP_001257436.1|NP_001257437.1|NP_006281.1 P21580 TNAP3_HUMAN tumor necrosis factor, alpha-induced protein 3 662 Interaction with NAF1 (By similarity). anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide centrosome|cytosol|nucleus caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding p.0?(25)|p.C662fs*36(1) breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 225 Breast(32;0.135)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468) GGAGGGAATGCGGCACCCTTG 0.502000 """D, N, F""" """marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma""" 4 75 0 0 1 0 0 GALNT14 79623 broad.mit.edu 37 2 31178596 31178596 + Missense_Mutation SNP C C T TCGA-HT-A61A-01A-11D-A29Q-08 TCGA-HT-A61A-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c19bfe8-48ac-4daa-a501-207daba21c54 c405c276-2fbb-43f3-8810-d309682f8196 g.chr2:31178596C>T ENST00000349752.5 - 6 1181 c.542G>A c.(541-543)cGg>cAg p.R181Q GALNT14_ENST00000406653.1_Missense_Mutation_p.R161Q|GALNT14_ENST00000420311.2_Missense_Mutation_p.R146Q|GALNT14_ENST00000356174.3_Missense_Mutation_p.R148Q|GALNT14_ENST00000324589.5_Missense_Mutation_p.R186Q NM_024572.3 NP_078848.2 Q96FL9 GLT14_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) 181 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3) 43 Acute lymphoblastic leukemia(172;0.155) AATCCGGGACCGGACCAGACC 0.602000 10 89 0 0 1 0 0 ZSCAN5B 342933 broad.mit.edu 37 19 56704284 56704284 + Silent SNP A A G TCGA-HT-A61A-01A-11D-A29Q-08 TCGA-HT-A61A-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c19bfe8-48ac-4daa-a501-207daba21c54 c405c276-2fbb-43f3-8810-d309682f8196 g.chr19:56704284A>G ENST00000586855.2 - 2 451 c.138T>C c.(136-138)aaT>aaC p.N46N ZSCAN5B_ENST00000358992.3_Silent_p.N46N A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 46 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.N46N(2) breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 ACATCCTGAAATTCATGTGCC 0.577000 3 36 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-HT-A61A-01A-11D-A29Q-08 TCGA-HT-A61A-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c19bfe8-48ac-4daa-a501-207daba21c54 c405c276-2fbb-43f3-8810-d309682f8196 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 5 66 0 0 1 0 0 MYBBP1A 10514 broad.mit.edu 37 17 4445773 4445773 + Missense_Mutation SNP G G A TCGA-HT-A61A-01A-11D-A29Q-08 TCGA-HT-A61A-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c19bfe8-48ac-4daa-a501-207daba21c54 c405c276-2fbb-43f3-8810-d309682f8196 g.chr17:4445773G>A ENST00000254718.4 - 22 3379 c.3073C>T c.(3073-3075)Cgg>Tgg p.R1025W MYBBP1A_ENST00000381556.2_Missense_Mutation_p.R1025W Q9BQG0 MBB1A_HUMAN MYB binding protein (P160) 1a 1025 nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NLS-dependent protein nuclear import complex|nucleolus DNA binding|DNA-directed DNA polymerase activity|transcription factor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1) 24 TGACGGGGCCGCACCGGGCCC 0.617000 4 132 0 0 1 0 0 LTBP3 4054 broad.mit.edu 37 11 65306608 65306608 + Frame_Shift_Del DEL T T - TCGA-HT-A61A-01A-11D-A29Q-08 TCGA-HT-A61A-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c19bfe8-48ac-4daa-a501-207daba21c54 c405c276-2fbb-43f3-8810-d309682f8196 g.chr11:65306608delT ENST00000301873.5 - 28 4123 c.3855delA c.(3853-3855)aafs p.K1285fs LTBP3_ENST00000529189.1_Frame_Shift_Del_p.K241fs|LTBP3_ENST00000322147.4_Frame_Shift_Del_p.K1238fs|LTBP3_ENST00000532932.1_Frame_Shift_Del_p.K715fs|LTBP3_ENST00000536982.1_Frame_Shift_Del_p.K864fs|LTBP3_ENST00000530785.1_Frame_Shift_Del_p.K288fs NM_001130144.2 NP_001123616.1 Q9NS15 LTBP3_HUMAN latent transforming growth factor beta binding protein 3 1285 EGF-like 13; calcium-binding (Potential). extracellular region calcium ion binding|growth factor binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3) 23 CGAAGCCGGCTTTGCAGACGC 0.706 2 4 --- --- --- --- FTCD 10841 broad.mit.edu 37 21 47572855 47572855 + Frame_Shift_Del DEL A A - TCGA-HT-A61A-01A-11D-A29Q-08 TCGA-HT-A61A-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c19bfe8-48ac-4daa-a501-207daba21c54 c405c276-2fbb-43f3-8810-d309682f8196 g.chr21:47572855delA ENST00000397748.1 - 3 376 c.333delT c.(331-333)ttfs p.F111fs FTCD_ENST00000355384.2_Frame_Shift_Del_p.F111fs|FTCD_ENST00000397746.3_Frame_Shift_Del_p.F111fs|FTCD_ENST00000397743.1_Frame_Shift_Del_p.F111fs|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000291670.5_Frame_Shift_Del_p.F111fs|FTCD_ENST00000359679.2_Frame_Shift_Del_p.F111fs O95954 FTCD_HUMAN formimidoyltransferase cyclodeaminase 111 Formiminotransferase N-subdomain (By similarity). folic acid-containing compound metabolic process|histidine catabolic process centriole|cytosol|Golgi apparatus folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3) 19 Breast(49;0.214) Colorectal(79;0.235) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) GCCTCTGGCCAAAGGCCTGGG 0.672 2 4 --- --- --- ---