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 TUBB8P7 0 broad.mit.edu 37 16 90161578 90161578 + RNA SNP G G A rs13337896 by1000genomes TCGA-EM-A1YD-01A-11D-A14W-08 TCGA-EM-A1YD-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa9d53-6742-48e3-ac67-7be5f7f48aa6 357a4434-cd9f-4fc5-bab7-5ef3a14fc76e g.chr16:90161578G>A ENST00000567960.1 + 0 314 TUBB8P7_ENST00000564451.1_RNA p.R105H(3) GCCAAGGGACGCTACACCGAA 0.587000 3 30 0 0 0.004672 0 0 ZFP42 132625 broad.mit.edu 37 4 188924090 188924090 + Silent SNP C C T TCGA-EM-A1YD-01A-11D-A14W-08 TCGA-EM-A1YD-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa9d53-6742-48e3-ac67-7be5f7f48aa6 357a4434-cd9f-4fc5-bab7-5ef3a14fc76e g.chr4:188924090C>T ENST00000326866.4 + 4 537 c.129C>T c.(127-129)gtC>gtT p.V43V ZFP42_ENST00000509524.1_Silent_p.V43V NM_174900.3 NP_777560.2 Q96MM3 ZFP42_HUMAN ZFP42 zinc finger protein 43 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) TAGAACCTGTCAGCGCGGTGT 0.562000 25 40 0 0 0.099896 0 0 NRP2 8828 broad.mit.edu 37 2 206630290 206630290 + Silent SNP C C T TCGA-EM-A1YD-01A-11D-A14W-08 TCGA-EM-A1YD-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa9d53-6742-48e3-ac67-7be5f7f48aa6 357a4434-cd9f-4fc5-bab7-5ef3a14fc76e g.chr2:206630290C>T ENST00000360409.3 + 14 3191 c.2400C>T c.(2398-2400)tgC>tgT p.C800C NRP2_ENST00000540178.1_Silent_p.C800C|NRP2_ENST00000412873.2_Silent_p.C800C|NRP2_ENST00000540841.1_Silent_p.C800C|NRP2_ENST00000357118.4_Silent_p.C800C|NRP2_ENST00000485684.1_3'UTR|NRP2_ENST00000272849.3_Silent_p.C800C|NRP2_ENST00000357785.5_Silent_p.C800C NM_003872.2|NM_201266.1|NM_201279.1 NP_003863.2|NP_957718.1|NP_958436.1 O60462 NRP2_HUMAN neuropilin 2 800 MAM. angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 52 TGGAGAACTGCATGGGTATGT 0.478000 4 96 0 0 0.009096 0 0 PTPRT 11122 broad.mit.edu 37 20 41306647 41306647 + Missense_Mutation SNP G G A TCGA-EM-A1YD-01A-11D-A14W-08 TCGA-EM-A1YD-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa9d53-6742-48e3-ac67-7be5f7f48aa6 357a4434-cd9f-4fc5-bab7-5ef3a14fc76e g.chr20:41306647G>A ENST00000373198.3 - 7 1247 c.1012C>T c.(1012-1014)Cac>Tac p.H338Y PTPRT_ENST00000373190.1_Missense_Mutation_p.H338Y|PTPRT_ENST00000373193.3_Missense_Mutation_p.H338Y|PTPRT_ENST00000373201.1_Missense_Mutation_p.H338Y|PTPRT_ENST00000373187.1_Missense_Mutation_p.H338Y|PTPRT_ENST00000373184.1_Missense_Mutation_p.H338Y|PTPRT_ENST00000356100.2_Missense_Mutation_p.H338Y NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 338 Fibronectin type-III 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TCGACTATGTGGGTCTCTGCC 0.567000 14 115 0 0 0.020292 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261693 39261693 + Missense_Mutation SNP A A T rs113059833 by1000genomes TCGA-EM-A1YD-01A-11D-A14W-08 TCGA-EM-A1YD-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa9d53-6742-48e3-ac67-7be5f7f48aa6 357a4434-cd9f-4fc5-bab7-5ef3a14fc76e g.chr17:39261693A>T ENST00000391415.1 + 1 110 c.53A>T c.(52-54)gAc>gTc p.D18V NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 18 keratin filament p.D18V(1) central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 TGCGGCCAAGACCTCTGTCAG 0.627000 3 33 0 0 0.009096 0 0 KRT79 338785 broad.mit.edu 37 12 53225273 53225273 + Silent SNP C C T TCGA-EM-A1YD-01A-11D-A14W-08 TCGA-EM-A1YD-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa9d53-6742-48e3-ac67-7be5f7f48aa6 357a4434-cd9f-4fc5-bab7-5ef3a14fc76e g.chr12:53225273C>T ENST00000330553.5 - 2 649 c.615G>A c.(613-615)acG>acA p.T205T NM_175834.2 NP_787028.1 Q5XKE5 K2C79_HUMAN keratin 79 205 Coil 1B.|Rod. keratin filament structural molecule activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GTCTGTCCAGCGTGCTCCGCA 0.607000 22 83 0 0 0.076483 0 0 ASMT 438 broad.mit.edu 37 X 1743168 1743168 + Missense_Mutation SNP A A G TCGA-EM-A1YD-01A-11D-A14W-08 TCGA-EM-A1YD-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa9d53-6742-48e3-ac67-7be5f7f48aa6 357a4434-cd9f-4fc5-bab7-5ef3a14fc76e g.chrX:1743168A>G ENST00000381241.3 + 3 450 c.251A>G c.(250-252)tAt>tGt p.Y84C ASMT_ENST00000381229.4_Missense_Mutation_p.Y84C|ASMT_ENST00000381233.3_Missense_Mutation_p.Y84C NM_001171038.1|NM_004043.2 NP_001164509.1|NP_004034.2 P46597 HIOM_HUMAN acetylserotonin O-methyltransferase 84 melatonin biosynthetic process|translation cytosol acetylserotonin O-methyltransferase activity|S-methyltransferase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 16 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) TCAGCTTTCTATCGAAACACA 0.537000 35 96 0 0 0.069456 0 0 MYCBP2 23077 broad.mit.edu 37 13 77750765 77750765 + Splice_Site SNP T T A rs71203039 TCGA-EM-A1YD-01A-11D-A14W-08 TCGA-EM-A1YD-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa9d53-6742-48e3-ac67-7be5f7f48aa6 357a4434-cd9f-4fc5-bab7-5ef3a14fc76e g.chr13:77750765T>A ENST00000407578.2 - 36 5607 c.e36-2 MYCBP2_ENST00000357337.6_Splice_Site|MYCBP2_ENST00000360084.5_Splice_Site|MYCBP2_ENST00000544440.2_Splice_Site NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) ATGTTCACTCTAAAAAAAAAA 0.299000 3 30 0 0 0.004672 0 0 SKAP2 8935 broad.mit.edu 37 7 26766512 26766512 + Missense_Mutation SNP G G A TCGA-EM-A1YD-01A-11D-A14W-08 TCGA-EM-A1YD-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa9d53-6742-48e3-ac67-7be5f7f48aa6 357a4434-cd9f-4fc5-bab7-5ef3a14fc76e g.chr7:26766512G>A ENST00000345317.2 - 7 896 c.583C>T c.(583-585)Cgt>Tgt p.R195C SKAP2_ENST00000489977.1_5'UTR|SKAP2_ENST00000539623.1_Missense_Mutation_p.R23C NM_003930.3 NP_003921.2 O75563 SKAP2_HUMAN src kinase associated phosphoprotein 2 195 PH. B cell activation|cell junction assembly|protein complex assembly|signal transduction cytosol|plasma membrane SH3/SH2 adaptor activity p.R195G(1) haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3) 17 TGATATATACGTTTATCAGGA 0.303000 15 34 0 0 0.033300 0 0 ZNF319 0 broad.mit.edu 37 16 58031260 58031260 + Nonsense_Mutation SNP G G A TCGA-EM-A1YD-01A-11D-A14W-08 TCGA-EM-A1YD-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa9d53-6742-48e3-ac67-7be5f7f48aa6 357a4434-cd9f-4fc5-bab7-5ef3a14fc76e g.chr16:58031260G>A ENST00000299237.2 - 2 1532 c.910C>T c.(910-912)Cag>Tag p.Q304* NM_020807.1 NP_065858.1 Q9P2F9 ZN319_HUMAN zinc finger protein 319 304 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1) 8 CACGGGTGCTGCAGCAGCTCC 0.662000 3 29 0 0 0.009096 0 0 WT1 7490 broad.mit.edu 37 11 32414222 32414222 + Missense_Mutation SNP C C A TCGA-EM-A1YD-01A-11D-A14W-08 TCGA-EM-A1YD-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa9d53-6742-48e3-ac67-7be5f7f48aa6 357a4434-cd9f-4fc5-bab7-5ef3a14fc76e g.chr11:32414222C>A ENST00000332351.3 - 8 1613 c.1329G>T c.(1327-1329)agG>agT p.R443S WT1_ENST00000448076.3_Missense_Mutation_p.R443S|WT1_ENST00000530998.1_Missense_Mutation_p.R214S|WT1_ENST00000379079.2_Missense_Mutation_p.R231S NM_024424.3|NM_024426.4 NP_077742.2|NP_077744.3 P19544 WT1_HUMAN Wilms tumor 1 375 adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development cytoplasm|nuclear speck|nucleoplasm C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding EWSR1/WT1(234) NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1) 533 Breast(20;0.247) OV - Ovarian serous cystadenocarcinoma(30;0.128) CTGTATGTCTCCTTTGGTGTC 0.438000 """D, Mis, N, F, S""" EWSR1 """Wilms, desmoplastic small round cell tumor""" Wilms Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome 4 32 0.00024832 0.000297984 0.009096 1 0 CTD-2245F17.3 0 broad.mit.edu 37 19 53703995 53703995 + RNA DEL T T - rs113703393 TCGA-EM-A1YD-01A-11D-A14W-08 TCGA-EM-A1YD-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa9d53-6742-48e3-ac67-7be5f7f48aa6 357a4434-cd9f-4fc5-bab7-5ef3a14fc76e g.chr19:53703995delT ENST00000597550.1 + 0 232 TGTTTCCCCCttttttttttt 0.473 2 4 --- --- --- --- AC008103.5 0 broad.mit.edu 37 22 18842473 18842473 + RNA DEL G G - rs66618606 TCGA-EM-A1YD-01A-11D-A14W-08 TCGA-EM-A1YD-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx aafa9d53-6742-48e3-ac67-7be5f7f48aa6 357a4434-cd9f-4fc5-bab7-5ef3a14fc76e g.chr22:18842473delG ENST00000412938.1 + 0 2208 AGCTGCTGGTGGGGAGGTCTT 0.647 3 4 --- --- --- ---