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 ST8SIA6 338596 broad.mit.edu 37 10 17369109 17369109 + Missense_Mutation SNP T T G TCGA-DU-A7TI-01A-11D-A33T-08 TCGA-DU-A7TI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3959f0ac-f2a0-4761-9969-06eea3af0235 7babad52-46f6-4519-af6d-5c25e171c271 g.chr10:17369109T>G ENST00000377602.4 - 6 613 c.539A>C c.(538-540)gAc>gCc p.D180A NM_001004470.1 NP_001004470.1 P61647 SIA8F_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 180 post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1) 37 ATAAGGGTAGTCCACAAAAGG 0.388000 47 85 0 0 1 0 0 ZWILCH 55055 broad.mit.edu 37 15 66813414 66813414 + Silent SNP T T C TCGA-DU-A7TI-01A-11D-A33T-08 TCGA-DU-A7TI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3959f0ac-f2a0-4761-9969-06eea3af0235 7babad52-46f6-4519-af6d-5c25e171c271 g.chr15:66813414T>C ENST00000307897.5 + 7 998 c.618T>C c.(616-618)taT>taC p.Y206Y ZWILCH_ENST00000446801.2_Silent_p.Y92Y|RPL4_ENST00000568588.1_Intron|RPL4_ENST00000564517.1_Intron|ZWILCH_ENST00000535141.2_Silent_p.Y92Y|ZWILCH_ENST00000565627.1_Silent_p.Y92Y NM_017975.3 NP_060445.3 Q9H900 ZWILC_HUMAN zwilch kinetochore protein 206 cell division|mitotic cell cycle checkpoint|mitotic prometaphase condensed chromosome kinetochore|cytosol protein binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1) 18 TTGCCCAGTATGAGCTCTTTA 0.433000 51 477 0 0 1 0 0 RASGEF1B 153020 broad.mit.edu 37 4 82369294 82369294 + Missense_Mutation SNP T T C TCGA-DU-A7TI-01A-11D-A33T-08 TCGA-DU-A7TI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3959f0ac-f2a0-4761-9969-06eea3af0235 7babad52-46f6-4519-af6d-5c25e171c271 g.chr4:82369294T>C ENST00000509081.1 - 5 801 c.580A>G c.(580-582)Ata>Gta p.I194V RASGEF1B_ENST00000335927.7_Missense_Mutation_p.I153V|RASGEF1B_ENST00000264400.2_Missense_Mutation_p.I195V Q0VAM2 RGF1B_HUMAN RasGEF domain family, member 1B 195 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 26 TCCCTTTGTATAGACTGTGGC 0.502000 42 168 0 0 1 0 0 OTOF 9381 broad.mit.edu 37 2 26697436 26697436 + Missense_Mutation SNP A A G TCGA-DU-A7TI-01A-11D-A33T-08 TCGA-DU-A7TI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3959f0ac-f2a0-4761-9969-06eea3af0235 7babad52-46f6-4519-af6d-5c25e171c271 g.chr2:26697436A>G ENST00000272371.2 - 26 3359 c.3233T>C c.(3232-3234)aTc>aCc p.I1078T OTOF_ENST00000402415.3_Missense_Mutation_p.I388T|OTOF_ENST00000403946.3_Missense_Mutation_p.I1078T|OTOF_ENST00000339598.3_Missense_Mutation_p.I331T|OTOF_ENST00000338581.6_Missense_Mutation_p.I331T NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 1078 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCACGGTAGATCTGGTAGTA 0.647000 17 25 0 0 1 0 0 RPS6KA2 6196 broad.mit.edu 37 6 166836821 166836821 + Missense_Mutation SNP C C A TCGA-DU-A7TI-01A-11D-A33T-08 TCGA-DU-A7TI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3959f0ac-f2a0-4761-9969-06eea3af0235 7babad52-46f6-4519-af6d-5c25e171c271 g.chr6:166836821C>A ENST00000510118.1 - 19 2081 c.1741G>T c.(1741-1743)Ggc>Tgc p.G581C RPS6KA2_ENST00000265678.4_Missense_Mutation_p.G556C|RPS6KA2_ENST00000509742.1_5'UTR|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.G467C|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.G467C|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.G564C Q15349 KS6A2_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 2 556 Protein kinase 2. axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.G564S(1)|p.G556S(1) central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05) TTGGCAAAGCCGAAGTCGCAG 0.602000 20 31 1.2644e-06 1.28826e-06 1 1 0 SSTR2 0 broad.mit.edu 37 17 71165811 71165811 + Missense_Mutation SNP T T C TCGA-DU-A7TI-01A-11D-A33T-08 TCGA-DU-A7TI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3959f0ac-f2a0-4761-9969-06eea3af0235 7babad52-46f6-4519-af6d-5c25e171c271 g.chr17:71165811T>C ENST00000357585.2 + 2 722 c.353T>C c.(352-354)gTc>gCc p.V118A RP11-143K11.5_ENST00000580671.1_RNA|SSTR2_ENST00000315332.2_Missense_Mutation_p.V118A NM_001050.2 NP_001041.1 P30874 SSR2_HUMAN somatostatin receptor 2 118 digestion|negative regulation of cell proliferation|response to nutrient integral to plasma membrane PDZ domain binding|somatostatin receptor activity endometrium(2)|large_intestine(5)|lung(2)|prostate(2) 11 LUSC - Lung squamous cell carcinoma(166;0.197) TGCCGGGTGGTCATGACTGTG 0.572000 16 102 0 0 1 0 0 IGHV1OR21-1 0 broad.mit.edu 37 21 10862778 10862778 + RNA SNP A A G TCGA-DU-A7TI-01A-11D-A33T-08 TCGA-DU-A7TI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3959f0ac-f2a0-4761-9969-06eea3af0235 7babad52-46f6-4519-af6d-5c25e171c271 g.chr21:10862778A>G ENST00000559480.1 + 0 74 breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1) 26 CAGCTGGTGCAGTCTGGGGCT 0.567000 23 246 0 0 1 0 0 MYOCD 93649 broad.mit.edu 37 17 12626176 12626176 + Missense_Mutation SNP A A G TCGA-DU-A7TI-01A-11D-A33T-08 TCGA-DU-A7TI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3959f0ac-f2a0-4761-9969-06eea3af0235 7babad52-46f6-4519-af6d-5c25e171c271 g.chr17:12626176A>G ENST00000425538.1 + 5 466 c.266A>G c.(265-267)gAg>gGg p.E89G MYOCD_ENST00000395988.1_5'UTR|MYOCD_ENST00000343344.4_Missense_Mutation_p.E89G NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 89 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) TCCACTGCAGAGAGGTCCATT 0.448000 15 182 0 0 1 0 0 TEX11 0 broad.mit.edu 37 X 69871334 69871334 + Missense_Mutation SNP G G C TCGA-DU-A7TI-01A-11D-A33T-08 TCGA-DU-A7TI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3959f0ac-f2a0-4761-9969-06eea3af0235 7babad52-46f6-4519-af6d-5c25e171c271 g.chrX:69871334G>C ENST00000395889.2 - 18 1649 c.1494C>G c.(1492-1494)ttC>ttG p.F498L TEX11_ENST00000374333.2_Missense_Mutation_p.F483L|TEX11_ENST00000374320.2_Missense_Mutation_p.F173L|TEX11_ENST00000344304.3_Missense_Mutation_p.F498L NM_001003811.1 NP_001003811.1 Q8IYF3 TEX11_HUMAN testis expressed 11 498 protein binding breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3) 48 Renal(35;0.156) CTGCAATCTTGAATATATAAA 0.348000 9 20 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DU-A7TI-01A-11D-A33T-08 TCGA-DU-A7TI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3959f0ac-f2a0-4761-9969-06eea3af0235 7babad52-46f6-4519-af6d-5c25e171c271 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_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 36 70 0 0 1 0 0 MEMO1 51072 broad.mit.edu 37 2 32108485 32108485 + Missense_Mutation SNP A A C TCGA-DU-A7TI-01A-11D-A33T-08 TCGA-DU-A7TI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3959f0ac-f2a0-4761-9969-06eea3af0235 7babad52-46f6-4519-af6d-5c25e171c271 g.chr2:32108485A>C ENST00000295065.4 - 7 936 c.627T>G c.(625-627)atT>atG p.I209M DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000426310.2_Missense_Mutation_p.I186M|MEMO1_ENST00000404530.1_Missense_Mutation_p.I209M|MEMO1_ENST00000379383.3_Missense_Mutation_p.I212M|MEMO1_ENST00000490459.1_Intron NM_015955.2 NP_057039.1 Q9Y316 MEMO1_HUMAN mediator of cell motility 1 209 regulation of microtubule-based process cytosol|nucleus NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2) 17 Acute lymphoblastic leukemia(172;0.155) TGGATCTATAAATCTCCCCCT 0.313000 23 335 0 0 1 0 0 OR52E8 390079 broad.mit.edu 37 11 5878093 5878093 + Silent SNP T T A TCGA-DU-A7TI-01A-11D-A33T-08 TCGA-DU-A7TI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3959f0ac-f2a0-4761-9969-06eea3af0235 7babad52-46f6-4519-af6d-5c25e171c271 g.chr11:5878093T>A ENST00000537935.1 - 1 871 c.840A>T c.(838-840)atA>atT p.I280I TRIM5_ENST00000380027.1_Intron NM_001005168.1 NP_001005168.1 Q6IFG1 O52E8_HUMAN olfactory receptor, family 52, subfamily E, member 8 280 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 20 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114) Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGTTGGCTAATATAATATGTA 0.393000 19 223 0 0 1 0 0 CDK3 1018 broad.mit.edu 37 17 73997474 73997474 + Translation_Start_Site SNP G G A rs2069528 by1000genomes TCGA-DU-A7TI-01A-11D-A33T-08 TCGA-DU-A7TI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3959f0ac-f2a0-4761-9969-06eea3af0235 7babad52-46f6-4519-af6d-5c25e171c271 g.chr17:73997474G>A ENST00000425876.2 + 0 56 CDK3_ENST00000448471.1_Intron|TEN1-CDK3_ENST00000567351.1_RNA Q00526 CDK3_HUMAN cyclin-dependent kinase 3 cell division|cell proliferation|mitosis ATP binding|cyclin-dependent protein kinase activity central_nervous_system(1) 1 CAAATTGCCCGGTGCCTTCTG 0.622000 5 26 0 0 1 0 0 NFE2 4778 broad.mit.edu 37 12 54687025 54687025 + Silent SNP G G A TCGA-DU-A7TI-01A-11D-A33T-08 TCGA-DU-A7TI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3959f0ac-f2a0-4761-9969-06eea3af0235 7babad52-46f6-4519-af6d-5c25e171c271 g.chr12:54687025G>A ENST00000540264.2 - 2 764 c.255C>T c.(253-255)ctC>ctT p.L85L NFE2_ENST00000312156.4_Silent_p.L85L|NFE2_ENST00000435572.2_Silent_p.L85L|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000553070.1_Silent_p.L85L Q16621 NFE2_HUMAN nuclear factor, erythroid 2 85 Transactivation domain. blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter actin cytoskeleton|cytoplasm|PML body protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2) 16 TGGATGCTGGGAGCTCATAAG 0.577000 15 90 0 0 1 0 0 SYVN1 84447 broad.mit.edu 37 11 64900459 64900459 + Silent SNP A A C TCGA-DU-A7TI-01A-11D-A33T-08 TCGA-DU-A7TI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3959f0ac-f2a0-4761-9969-06eea3af0235 7babad52-46f6-4519-af6d-5c25e171c271 g.chr11:64900459A>C ENST00000526060.1 - 4 504 c.312T>G c.(310-312)gtT>gtG p.V104V SYVN1_ENST00000307289.6_Silent_p.V104V|SYVN1_ENST00000377190.3_Silent_p.V104V|SYVN1_ENST00000294256.8_Silent_p.V104V Q86TM6 SYVN1_HUMAN synovial apoptosis inhibitor 1, synoviolin 104 ER-associated protein catabolic process|response to stress endoplasmic reticulum membrane|integral to membrane|nucleus acid-amino acid ligase activity|protein binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 TGAAGAGTGCAACAAAGCGGG 0.557000 22 38 0 0 1 0 0 CIITA 4261 broad.mit.edu 37 16 10989595 10989595 + Missense_Mutation SNP A A G TCGA-DU-A7TI-01A-11D-A33T-08 TCGA-DU-A7TI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3959f0ac-f2a0-4761-9969-06eea3af0235 7babad52-46f6-4519-af6d-5c25e171c271 g.chr16:10989595A>G ENST00000324288.8 + 3 402 c.269A>G c.(268-270)gAg>gGg p.E90G CIITA_ENST00000381835.5_Missense_Mutation_p.E90G|CIITA_ENST00000537380.1_3'UTR NM_000246.3 NP_000237.2 P33076 C2TA_HUMAN class II, major histocompatibility complex, transactivator 90 Asp/Glu-rich (acidic). interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 GGTGATGAAGAGACCAGGGAG 0.512000 T """FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6""" """PMBL, Hodgkin Lymphona, """ 8 67 0 0 1 0 0 PCDHGB3 0 broad.mit.edu 37 5 140752018 140752018 + Missense_Mutation SNP C C T TCGA-DU-A7TI-01A-11D-A33T-08 TCGA-DU-A7TI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3959f0ac-f2a0-4761-9969-06eea3af0235 7babad52-46f6-4519-af6d-5c25e171c271 g.chr5:140752018C>T ENST00000576222.1 + 1 2188 c.2057C>T c.(2056-2058)gCg>gTg p.A686V PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018924.2|NM_032097.1 NP_061747.1|NP_115268.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACCCTCAGGCGGAGCTACAG 0.572000 28 114 0 0 1 0 0 NBPF3 84224 broad.mit.edu 37 1 21771683 21771683 + Missense_Mutation SNP G G A TCGA-DU-A7TI-01A-11D-A33T-08 TCGA-DU-A7TI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3959f0ac-f2a0-4761-9969-06eea3af0235 7babad52-46f6-4519-af6d-5c25e171c271 g.chr1:21771683G>A ENST00000318249.5 + 2 454 c.104G>A c.(103-105)gGc>gAc p.G35D NBPF3_ENST00000318220.6_5'UTR|NBPF3_ENST00000478653.2_3'UTR|NBPF3_ENST00000454000.2_Missense_Mutation_p.G35D|NBPF3_ENST00000342104.5_Missense_Mutation_p.G35D NM_032264.3 NP_115640.1 Q9H094 NBPF3_HUMAN neuroblastoma breakpoint family, member 3 35 cytoplasm breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 20 all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CATGGTGTGGGCCGACATCAA 0.542000 10 36 0 0 1 0 0 ACSM5 54988 broad.mit.edu 37 16 20451157 20451157 + Nonsense_Mutation SNP C C G TCGA-DU-A7TI-01A-11D-A33T-08 TCGA-DU-A7TI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3959f0ac-f2a0-4761-9969-06eea3af0235 7babad52-46f6-4519-af6d-5c25e171c271 g.chr16:20451157C>G ENST00000331849.4 + 13 1719 c.1572C>G c.(1570-1572)taC>taG p.Y524* NM_017888.2 NP_060358.2 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 524 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 51 CTCCAGCCTACTCCTCTCATG 0.458000 14 132 0 0 1 0 0 CLSTN3 9746 broad.mit.edu 37 12 7293877 7293877 + Missense_Mutation SNP G G A TCGA-DU-A7TI-01A-11D-A33T-08 TCGA-DU-A7TI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3959f0ac-f2a0-4761-9969-06eea3af0235 7babad52-46f6-4519-af6d-5c25e171c271 g.chr12:7293877G>A ENST00000537408.1 + 8 1937 c.1399G>A c.(1399-1401)Gag>Aag p.E467K CLSTN3_ENST00000266546.6_Missense_Mutation_p.E455K Q9BQT9 CSTN3_HUMAN calsyntenin 3 455 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1) 33 TCTGAACCTCGAGTTCCCCAC 0.567000 OREG0021650 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 258 0 0 1 0 0 IGKV1-33 0 broad.mit.edu 37 2 89568183 89568183 + RNA SNP A A G TCGA-DU-A7TI-01A-11D-A33T-08 TCGA-DU-A7TI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3959f0ac-f2a0-4761-9969-06eea3af0235 7babad52-46f6-4519-af6d-5c25e171c271 g.chr2:89568183A>G ENST00000473726.1 - 0 80 CTTACCTGAGAGCCAGAGCAG 0.522000 11 47 0 0 1 0 0 DAPK1 1612 broad.mit.edu 37 9 90322027 90322027 + Silent SNP C C T rs55790757 by1000genomes TCGA-DU-A7TI-01A-11D-A33T-08 TCGA-DU-A7TI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3959f0ac-f2a0-4761-9969-06eea3af0235 7babad52-46f6-4519-af6d-5c25e171c271 g.chr9:90322027C>T ENST00000469640.2 + 27 4491 c.4116C>T c.(4114-4116)aaC>aaT p.N1372N DAPK1_ENST00000491893.1_Silent_p.N1281N|DAPK1_ENST00000408954.3_Silent_p.N1347N|DAPK1_ENST00000358077.5_Silent_p.N1347N|DAPK1_ENST00000472284.1_Silent_p.N1347N P53355 DAPK1_HUMAN death-associated protein kinase 1 1347 Death. apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1) 72 ACACCAGTAACGGGGCTCCCA 0.632000 Chronic Lymphocytic Leukemia, Familial Clustering of 7 85 0 0 1 0 0 NEBL 10529 broad.mit.edu 37 10 21074807 21074807 + Missense_Mutation SNP C C T TCGA-DU-A7TI-01A-11D-A33T-08 TCGA-DU-A7TI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3959f0ac-f2a0-4761-9969-06eea3af0235 7babad52-46f6-4519-af6d-5c25e171c271 g.chr10:21074807C>T ENST00000377122.4 - 28 3310 c.2914G>A c.(2914-2916)Gag>Aag p.E972K NEBL_ENST00000377159.4_Missense_Mutation_p.E194K|NEBL_ENST00000417816.2_Missense_Mutation_p.E228K NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 972 SH3. regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 AAGGAGACCTCGTCTTCATCC 0.502000 16 79 0 0 1 0 0 PPEF1 5475 broad.mit.edu 37 X 18822066 18822066 + Silent SNP G G A TCGA-DU-A7TI-01A-11D-A33T-08 TCGA-DU-A7TI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3959f0ac-f2a0-4761-9969-06eea3af0235 7babad52-46f6-4519-af6d-5c25e171c271 g.chrX:18822066G>A ENST00000361511.4 + 14 1616 c.1122G>A c.(1120-1122)acG>acA p.T374T PPEF1_ENST00000544635.1_Silent_p.T309T|PPEF1_ENST00000543630.1_Intron|PPEF1_ENST00000359763.6_Silent_p.T321T|PPEF1_ENST00000349874.5_Intron NM_006240.2|NM_152224.1 NP_006231.2|NP_689410.1 O14829 PPE1_HUMAN protein phosphatase, EF-hand calcium binding domain 1 374 Catalytic. detection of stimulus involved in sensory perception|protein dephosphorylation calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 43 Hepatocellular(33;0.183) TTCCAAATACGTGCCGAGGAG 0.423000 57 25 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A rs121913343 TCGA-DU-A7TI-01A-11D-A33T-08 TCGA-DU-A7TI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3959f0ac-f2a0-4761-9969-06eea3af0235 7babad52-46f6-4519-af6d-5c25e171c271 g.chr17:7577121G>A ENST00000420246.2 - 8 949 c.817C>T c.(817-819)Cgt>Tgt p.R273C TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 273 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCACAAACACGCACCTCAAAG 0.542000 R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID) 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 17 12 0 0 1 0 0 CHRNA9 55584 broad.mit.edu 37 4 40356152 40356154 + In_Frame_Del DEL ATG ATG - TCGA-DU-A7TI-01A-11D-A33T-08 TCGA-DU-A7TI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3959f0ac-f2a0-4761-9969-06eea3af0235 7babad52-46f6-4519-af6d-5c25e171c271 g.chr4:40356152_40356154delATG ENST00000310169.2 + 5 1194_1196 c.1055_1057delATG c.(1054-1059)tat>t p.YD352del NM_017581.3 NP_060051.2 Q9UGM1 ACHA9_HUMAN cholinergic receptor, nicotinic, alpha 9 (neuronal) 352 elevation of cytosolic calcium ion concentration|synaptic transmission cell junction|postsynaptic membrane calcium channel activity|receptor activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1) 33 Nicotine(DB00184) TTGTTTGTCTATGATGTGGGTGA 0.552 8 276 --- --- --- --- TRGC1 0 broad.mit.edu 37 7 38301855 38301856 + RNA DEL GT GT - TCGA-DU-A7TI-01A-11D-A33T-08 TCGA-DU-A7TI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3959f0ac-f2a0-4761-9969-06eea3af0235 7babad52-46f6-4519-af6d-5c25e171c271 g.chr7:38301855_38301856delGT ENST00000443402.2 - 0 330 NM_001003799.1|NM_001003806.1 NP_001003799.1|NP_001003806.1 TCAATTGTTCGTGTGTGTGTGT 0.356 7 161 --- --- --- --- DLX6 1750 broad.mit.edu 37 7 96635420 96635421 + In_Frame_Ins INS - - GCC TCGA-DU-A7TI-01A-11D-A33T-08 TCGA-DU-A7TI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3959f0ac-f2a0-4761-9969-06eea3af0235 7babad52-46f6-4519-af6d-5c25e171c271 g.chr7:96635420_96635421insGCC ENST00000518156.2 + 1 561_562 c.131_132insGCC c.(130-132)ccc>cGCCcc p.43_44insR DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000430404.2_RNA P56179 DLX6_HUMAN distal-less homeobox 6 0 nervous system development|skeletal system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1) 12 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) caacagcaacagccgccgccgc 0.698 4 4 --- --- --- --- CIZ1 25792 broad.mit.edu 37 9 130953109 130953111 + In_Frame_Del DEL GCT GCT - TCGA-DU-A7TI-01A-11D-A33T-08 TCGA-DU-A7TI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3959f0ac-f2a0-4761-9969-06eea3af0235 7babad52-46f6-4519-af6d-5c25e171c271 g.chr9:130953109_130953111delGCT ENST00000538431.1 - 2 273_275 c.26_28delAGC c.(25-30)ctc>c p.QL9del CIZ1_ENST00000372938.5_In_Frame_Del_p.QL9del|CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000372954.1_In_Frame_Del_p.QL9del|CIZ1_ENST00000357558.5_In_Frame_Del_p.QL9del|CIZ1_ENST00000325721.8_In_Frame_Del_p.QL9del|CIZ1_ENST00000277465.4_In_Frame_Del_p.QL9del|CIZ1_ENST00000393608.1_In_Frame_Del_p.QL9del|CIZ1_ENST00000541172.1_5'UTR|CIZ1_ENST00000372948.3_In_Frame_Del_p.QL9del NM_001257975.1 NP_001244904.1 Q9ULV3 CIZ1_HUMAN CDKN1A interacting zinc finger protein 1 9 Gln-rich. Missing (in Ref. 7; AAF23231). nucleus nucleic acid binding|protein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2) 35 tgttgctggagctgctgctgctg 0.611 3 4 --- --- --- --- PIEZO2 63895 broad.mit.edu 37 18 10671600 10671602 + In_Frame_Del DEL TCT TCT - TCGA-DU-A7TI-01A-11D-A33T-08 TCGA-DU-A7TI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3959f0ac-f2a0-4761-9969-06eea3af0235 7babad52-46f6-4519-af6d-5c25e171c271 g.chr18:10671600_10671602delTCT ENST00000302079.6 - 51 7991_7993 c.7992_7994delAGA c.(7990-7995)gat>ga p.ED2664del PIEZO2_ENST00000538948.1_In_Frame_Del_p.ED684del|PIEZO2_ENST00000503781.3_In_Frame_Del_p.ED2727del|PIEZO2_ENST00000580640.1_In_Frame_Del_p.ED2752del|PIEZO2_ENST00000285141.4_In_Frame_Del_p.ED519del Q9H5I5 PIEZ2_HUMAN piezo-type mechanosensitive ion channel component 2 2727 integral to membrane ion channel activity GGCATAGAGATCTTCTTCTAGCT 0.365 11 78 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76814303 76814306 + Frame_Shift_Del DEL ATAA ATAA - TCGA-DU-A7TI-01A-11D-A33T-08 TCGA-DU-A7TI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3959f0ac-f2a0-4761-9969-06eea3af0235 7babad52-46f6-4519-af6d-5c25e171c271 g.chrX:76814303_76814306delATAA ENST00000373344.5 - 29 6552_6555 c.6338_6341delTTAT c.(6337-6342)tcfs p.FI2113fs ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.FI2075fs NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 2113 Helicase C-terminal. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.F2113fs*9(1)|p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) AGTAGAAATGATAAATAATCGTCC 0.289 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 46 74 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76938099 76938100 + Frame_Shift_Del DEL TT TT - TCGA-DU-A7TI-01A-11D-A33T-08 TCGA-DU-A7TI-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3959f0ac-f2a0-4761-9969-06eea3af0235 7babad52-46f6-4519-af6d-5c25e171c271 g.chrX:76938099_76938100delTT ENST00000373344.5 - 9 2862_2863 c.2648_2649delAA c.(2647-2649)cfs p.Q883fs ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.Q845fs NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 883 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TCTCTCTCTCTTGTTTTCTTTC 0.401 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 91 270 --- --- --- ---