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 NBEA 26960 broad.mit.edu 37 13 35685017 35685017 + Missense_Mutation SNP G G T TCGA-VV-A86M-01A-11D-A36O-08 TCGA-VV-A86M-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5db1dc85-06ff-4cdd-acc9-d0b950b8f83e d9c49142-2c48-4d18-adf2-08fe0fd0ebb4 g.chr13:35685017G>T ENST00000540320.1 + 13 2438 c.1904G>T c.(1903-1905)cGc>cTc p.R635L NBEA_ENST00000310336.4_Missense_Mutation_p.R635L|NBEA_ENST00000400445.3_Missense_Mutation_p.R635L|NBEA_ENST00000379939.2_Missense_Mutation_p.R635L Q8NFP9 NBEA_HUMAN neurobeachin 635 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) ACCACCATACGCAGAGTAGGA 0.363000 3 68 0.115264 0.115264 1 1 0 ATRX 546 broad.mit.edu 37 X 76940454 76940454 + Silent SNP T T G TCGA-VV-A86M-01A-11D-A36O-08 TCGA-VV-A86M-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5db1dc85-06ff-4cdd-acc9-d0b950b8f83e d9c49142-2c48-4d18-adf2-08fe0fd0ebb4 g.chrX:76940454T>G ENST00000373344.5 - 8 853 c.639A>C c.(637-639)tcA>tcC p.S213S ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Silent_p.S175S NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 213 ADD. 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) CCATTCCATCTGAGTCACGGC 0.308000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 44 46 0 0 1 0 0 PWWP2B 170394 broad.mit.edu 37 10 134218293 134218293 + Missense_Mutation SNP A A C TCGA-VV-A86M-01A-11D-A36O-08 TCGA-VV-A86M-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5db1dc85-06ff-4cdd-acc9-d0b950b8f83e d9c49142-2c48-4d18-adf2-08fe0fd0ebb4 g.chr10:134218293A>C ENST00000305233.5 + 2 348 c.289A>C c.(289-291)Acc>Ccc p.T97P PWWP2B_ENST00000368609.4_Missense_Mutation_p.T97P NM_138499.3 NP_612508.3 Q6NUJ5 PWP2B_HUMAN PWWP domain containing 2B 97 Pro-rich. central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1) 9 all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224) OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186) CCCCGAGACCACCCGCCCCGA 0.756000 5 3 0 0 1 0 0 HSP90AB1 3326 broad.mit.edu 37 6 44220861 44220861 + Missense_Mutation SNP G G A TCGA-VV-A86M-01A-11D-A36O-08 TCGA-VV-A86M-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5db1dc85-06ff-4cdd-acc9-d0b950b8f83e d9c49142-2c48-4d18-adf2-08fe0fd0ebb4 g.chr6:44220861G>A ENST00000371554.1 + 11 2025 c.1811G>A c.(1810-1812)cGg>cAg p.R604Q HSP90AB1_ENST00000353801.3_Missense_Mutation_p.R604Q|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.R604Q P08238 HS90B_HUMAN heat shock protein 90kDa alpha (cytosolic), class B member 1 604 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2) 33 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) AATATGGAGCGGATCATGAAA 0.527000 3 72 0 0 1 0 0 WDR77 79084 broad.mit.edu 37 1 111985359 111985359 + Missense_Mutation SNP A A G TCGA-VV-A86M-01A-11D-A36O-08 TCGA-VV-A86M-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5db1dc85-06ff-4cdd-acc9-d0b950b8f83e d9c49142-2c48-4d18-adf2-08fe0fd0ebb4 g.chr1:111985359A>G ENST00000235090.5 - 8 922 c.716T>C c.(715-717)cTt>cCt p.L239P WDR77_ENST00000411751.2_Missense_Mutation_p.L175P|WDR77_ENST00000497278.1_5'UTR NM_024102.2 NP_077007.1 Q9BQA1 MEP50_HUMAN WD repeat domain 77 239 ncRNA metabolic process|spliceosomal snRNP assembly cytosol|nucleus ligand-dependent nuclear receptor transcription coactivator activity|protein binding NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043) Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135) GGTGTCCACAAGGGAGACTGT 0.483000 10 15 0 0 1 0 0 PLA1A 51365 broad.mit.edu 37 3 119336927 119336927 + Missense_Mutation SNP G G T TCGA-VV-A86M-01A-11D-A36O-08 TCGA-VV-A86M-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5db1dc85-06ff-4cdd-acc9-d0b950b8f83e d9c49142-2c48-4d18-adf2-08fe0fd0ebb4 g.chr3:119336927G>T ENST00000273371.4 + 7 888 c.816G>T c.(814-816)gaG>gaT p.E272D PLA1A_ENST00000495992.1_Missense_Mutation_p.E256D|PLA1A_ENST00000494440.1_Missense_Mutation_p.E256D|PLA1A_ENST00000488919.1_Missense_Mutation_p.E99D NM_015900.3 NP_056984.1 Q53H76 PLA1A_HUMAN phospholipase A1 member A 272 lipid catabolic process|phosphatidylserine metabolic process extracellular region phospholipase A1 activity NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 GCGCCCTGGAGAATTCCTGTC 0.488000 7 217 8.12818e-05 8.46686e-05 1 1 0 ADD3 120 broad.mit.edu 37 10 111892082 111892082 + Silent SNP C C G TCGA-VV-A86M-01A-11D-A36O-08 TCGA-VV-A86M-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5db1dc85-06ff-4cdd-acc9-d0b950b8f83e d9c49142-2c48-4d18-adf2-08fe0fd0ebb4 g.chr10:111892082C>G ENST00000356080.4 + 14 2119 c.1752C>G c.(1750-1752)ctC>ctG p.L584L ADD3_ENST00000277900.8_Intron|ADD3_ENST00000360162.3_Intron NM_016824.3 NP_058432.1 Q9UEY8 ADDG_HUMAN adducin 3 (gamma) 584 cytoskeleton actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 29 Breast(234;0.052)|Lung NSC(174;0.223) Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742) AGGAATTACTCTCAGATGACG 0.378000 36 39 0 0 1 0 0 TPTE2P6 0 broad.mit.edu 37 13 25168432 25168432 + RNA SNP T T C rs149337771 by1000genomes TCGA-VV-A86M-01A-11D-A36O-08 TCGA-VV-A86M-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5db1dc85-06ff-4cdd-acc9-d0b950b8f83e d9c49142-2c48-4d18-adf2-08fe0fd0ebb4 g.chr13:25168432T>C ENST00000453498.1 + 0 1104 TTGAAACAGCTGGTGTATTAA 0.373000 3 16 0 0 1 0 0 KRTAP1-5 83895 broad.mit.edu 37 17 39183145 39183145 + Missense_Mutation SNP A A G TCGA-VV-A86M-01A-11D-A36O-08 TCGA-VV-A86M-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5db1dc85-06ff-4cdd-acc9-d0b950b8f83e d9c49142-2c48-4d18-adf2-08fe0fd0ebb4 g.chr17:39183145A>G ENST00000361883.5 - 1 309 c.263T>C c.(262-264)aTc>aCc p.I88T NM_031957.1 NP_114163.1 Q9BYS1 KRA15_HUMAN keratin associated protein 1-5 88 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament p.I88T(11) central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 17 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) GCAGGAGCTGATCTGGCAGCA 0.632000 3 39 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152190973 152190973 + Silent SNP G G A TCGA-VV-A86M-01A-11D-A36O-08 TCGA-VV-A86M-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5db1dc85-06ff-4cdd-acc9-d0b950b8f83e d9c49142-2c48-4d18-adf2-08fe0fd0ebb4 g.chr1:152190973G>A ENST00000368801.2 - 3 3207 c.3132C>T c.(3130-3132)tcC>tcT p.S1044S FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 1044 keratinization calcium ion binding|protein binding p.S1044S(1) autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AAGAGTGACCGGAGCCAGACT 0.582000 4 184 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-VV-A86M-01A-11D-A36O-08 TCGA-VV-A86M-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5db1dc85-06ff-4cdd-acc9-d0b950b8f83e d9c49142-2c48-4d18-adf2-08fe0fd0ebb4 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 30 26 0 0 1 0 0 SSTR3 0 broad.mit.edu 37 22 37603076 37603076 + Missense_Mutation SNP G G A TCGA-VV-A86M-01A-11D-A36O-08 TCGA-VV-A86M-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5db1dc85-06ff-4cdd-acc9-d0b950b8f83e d9c49142-2c48-4d18-adf2-08fe0fd0ebb4 g.chr22:37603076G>A ENST00000328544.3 - 2 1300 c.767C>T c.(766-768)aCg>aTg p.T256M SSTR3_ENST00000402501.1_Missense_Mutation_p.T256M NM_001051.3 NP_001042.1 P32745 SSR3_HUMAN somatostatin receptor 3 256 G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation integral to plasma membrane|nonmotile primary cilium somatostatin receptor activity NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1) 14 CACCATGCGCGTGACCCTGCG 0.677000 4 49 0 0 1 0 0 SLC39A7 7922 broad.mit.edu 37 6 33169244 33169244 + Silent SNP A A G TCGA-VV-A86M-01A-11D-A36O-08 TCGA-VV-A86M-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5db1dc85-06ff-4cdd-acc9-d0b950b8f83e d9c49142-2c48-4d18-adf2-08fe0fd0ebb4 g.chr6:33169244A>G ENST00000374677.3 + 1 595 c.222A>G c.(220-222)ggA>ggG p.G74G SLC39A7_ENST00000374675.3_Silent_p.G74G NM_006979.2 NP_008910.2 Q92504 S39A7_HUMAN solute carrier family 39 (zinc transporter), member 7 74 His-rich. endoplasmic reticulum membrane|integral to membrane|membrane fraction protein binding|zinc ion transmembrane transporter activity NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 18 TCTGGCATGGACATACCCACG 0.547000 28 35 0 0 1 0 0 KDELR3 0 broad.mit.edu 37 22 38877361 38877361 + Missense_Mutation SNP T T C TCGA-VV-A86M-01A-11D-A36O-08 TCGA-VV-A86M-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5db1dc85-06ff-4cdd-acc9-d0b950b8f83e d9c49142-2c48-4d18-adf2-08fe0fd0ebb4 g.chr22:38877361T>C ENST00000216014.4 + 4 668 c.496T>C c.(496-498)Tgg>Cgg p.W166R KDELR3_ENST00000409006.3_Missense_Mutation_p.W166R|KDELR3_ENST00000471268.1_3'UTR NM_006855.2 NP_006846.1 O43731 ERD23_HUMAN KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3 166 protein retention in ER lumen|protein transport|vesicle-mediated transport endoplasmic reticulum membrane|integral to membrane ER retention sequence binding|receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1) 13 Melanoma(58;0.0286) CCTGGCTAACTGGATCAGGCG 0.478000 4 63 0 0 1 0 0 FAM71B 153745 broad.mit.edu 37 5 156592666 156592666 + Missense_Mutation SNP C C T TCGA-VV-A86M-01A-11D-A36O-08 TCGA-VV-A86M-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5db1dc85-06ff-4cdd-acc9-d0b950b8f83e d9c49142-2c48-4d18-adf2-08fe0fd0ebb4 g.chr5:156592666C>T ENST00000302938.4 - 1 609 c.514G>A c.(514-516)Gtc>Atc p.V172I NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 172 nucleus p.V172I(1) NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AGGAGATAGACAAGTTTTTCC 0.507000 14 156 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18023771 18023771 + Missense_Mutation SNP C C T TCGA-VV-A86M-01A-11D-A36O-08 TCGA-VV-A86M-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5db1dc85-06ff-4cdd-acc9-d0b950b8f83e d9c49142-2c48-4d18-adf2-08fe0fd0ebb4 g.chr17:18023771C>T ENST00000205890.5 + 2 1995 c.1657C>T c.(1657-1659)Cgg>Tgg p.R553W NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 553 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) CGGCGCCCACCGGGGCCTGGG 0.711000 5 3 0 0 1 0 0 DNAJA1 3301 broad.mit.edu 37 9 33029962 33029962 + Missense_Mutation SNP G G C TCGA-VV-A86M-01A-11D-A36O-08 TCGA-VV-A86M-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5db1dc85-06ff-4cdd-acc9-d0b950b8f83e d9c49142-2c48-4d18-adf2-08fe0fd0ebb4 g.chr9:33029962G>C ENST00000330899.4 + 4 573 c.390G>C c.(388-390)aaG>aaC p.K130N DNAJA1_ENST00000495015.1_Intron|DNAJA1_ENST00000544625.1_5'UTR NM_001539.2 NP_001530.1 P31689 DNJA1_HUMAN DnaJ (Hsp40) homolog, subfamily A, member 1 130 protein folding|response to heat|response to unfolded protein membrane ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding large_intestine(2)|ovary(1)|skin(3) 6 LUSC - Lung squamous cell carcinoma(29;0.0227) GBM - Glioblastoma multiforme(74;0.102) CTCTGCAAAAGAATGTGATTT 0.328000 31 19 0 0 1 0 0 SEC63 11231 broad.mit.edu 37 6 108202455 108202455 + Splice_Site SNP C C T TCGA-VV-A86M-01A-11D-A36O-08 TCGA-VV-A86M-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5db1dc85-06ff-4cdd-acc9-d0b950b8f83e d9c49142-2c48-4d18-adf2-08fe0fd0ebb4 g.chr6:108202455C>T ENST00000369002.4 - 18 2013 c.e18-1 NM_007214.4 NP_009145.1 Q9UGP8 SEC63_HUMAN SEC63 homolog (S. cerevisiae) protein folding|protein targeting to membrane endoplasmic reticulum membrane|integral to membrane heat shock protein binding|receptor activity|unfolded protein binding endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294) BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054) CTTGCCACTCCTAGTAAACaa 0.313000 29 34 0 0 1 0 0 PLK2 10769 broad.mit.edu 37 5 57753314 57753314 + Splice_Site SNP C C G TCGA-VV-A86M-01A-11D-A36O-08 TCGA-VV-A86M-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5db1dc85-06ff-4cdd-acc9-d0b950b8f83e d9c49142-2c48-4d18-adf2-08fe0fd0ebb4 g.chr5:57753314C>G ENST00000274289.3 - 6 1110 c.e6+1 PLK2_ENST00000502671.1_Splice_Site NM_001252226.1|NM_006622.3 NP_001239155.1|NP_006613.2 Q9NYY3 PLK2_HUMAN polo-like kinase 2 positive regulation of I-kappaB kinase/NF-kappaB cascade ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2) 26 all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;7.03e-37) CATTTACTTACATTACACAGC 0.383000 3 74 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578443 7578443 + Missense_Mutation SNP A A T TCGA-VV-A86M-01A-11D-A36O-08 TCGA-VV-A86M-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5db1dc85-06ff-4cdd-acc9-d0b950b8f83e d9c49142-2c48-4d18-adf2-08fe0fd0ebb4 g.chr17:7578443A>T ENST00000420246.2 - 5 619 c.487T>A c.(487-489)Tac>Aac p.Y163N TP53_ENST00000455263.2_Missense_Mutation_p.Y163N|TP53_ENST00000445888.2_Missense_Mutation_p.Y163N|TP53_ENST00000269305.4_Missense_Mutation_p.Y163N|TP53_ENST00000359597.4_Missense_Mutation_p.Y163N|TP53_ENST00000413465.2_Missense_Mutation_p.Y163N NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 163 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation). 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.Y163N(20)|p.Y163H(17)|p.0?(8)|p.Y163D(5)|p.I162_Y163>N(3)|p.Y163fs*7(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.I30_Y31>N(1)|p.I162_Y163delIY(1)|p.I69_Y70>N(1)|p.Y70N(1)|p.A161fs*7(1)|p.Y31N(1)|p.Y163fs*14(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)|p.Y70D(1)|p.Y31D(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) GACTGCTTGTAGATGGCCATG 0.622000 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) 18 27 0 0 1 0 0 MUM1L1 139221 broad.mit.edu 37 X 105450654 105450654 + Missense_Mutation SNP T T A TCGA-VV-A86M-01A-11D-A36O-08 TCGA-VV-A86M-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5db1dc85-06ff-4cdd-acc9-d0b950b8f83e d9c49142-2c48-4d18-adf2-08fe0fd0ebb4 g.chrX:105450654T>A ENST00000337685.2 + 5 2014 c.1229T>A c.(1228-1230)aTa>aAa p.I410K MUM1L1_ENST00000372552.1_Missense_Mutation_p.I410K|MUM1L1_ENST00000357175.2_Missense_Mutation_p.I410K NM_152423.4 NP_689636.3 Q5H9M0 MUML1_HUMAN melanoma associated antigen (mutated) 1-like 1 410 PWWP. autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 CCAGCAGTGATAAAAAGTATC 0.348000 13 13 0 0 1 0 0 ZNF165 7718 broad.mit.edu 37 6 28056763 28056763 + Missense_Mutation SNP T T C TCGA-VV-A86M-01A-11D-A36O-08 TCGA-VV-A86M-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5db1dc85-06ff-4cdd-acc9-d0b950b8f83e d9c49142-2c48-4d18-adf2-08fe0fd0ebb4 g.chr6:28056763T>C ENST00000377325.1 + 4 1529 c.973T>C c.(973-975)Tct>Cct p.S325P NM_003447.3 NP_003438.1 P49910 ZN165_HUMAN zinc finger protein 165 325 viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 ATATGGAAAATCTTTCAAGAG 0.363000 11 25 0 0 1 0 0 SLC51A 200931 broad.mit.edu 37 3 195955100 195955102 + In_Frame_Del DEL CTG CTG - TCGA-VV-A86M-01A-11D-A36O-08 TCGA-VV-A86M-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5db1dc85-06ff-4cdd-acc9-d0b950b8f83e d9c49142-2c48-4d18-adf2-08fe0fd0ebb4 g.chr3:195955100_195955102delCTG ENST00000296327.5 + 5 686_688 c.477_479delCTG c.(475-480)ccc>cc p.PC159del NM_152672.5 NP_689885.4 solute carrier family 51, alpha subunit ACACAGGCCCctgctgctgctgc 0.665 7 89 --- --- --- --- SNHG14 0 broad.mit.edu 37 15 25482939 25482940 + RNA INS - - C TCGA-VV-A86M-01A-11D-A36O-08 TCGA-VV-A86M-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5db1dc85-06ff-4cdd-acc9-d0b950b8f83e d9c49142-2c48-4d18-adf2-08fe0fd0ebb4 g.chr15:25482939_25482940insC ENST00000453082.2 + 0 1979 NR_003343.1 CCTCCTCTAGTCCCCCTAGATG 0.545 5 7 --- --- --- --- PHB 5245 broad.mit.edu 37 17 47486742 47486742 + Frame_Shift_Del DEL T T - TCGA-VV-A86M-01A-11D-A36O-08 TCGA-VV-A86M-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5db1dc85-06ff-4cdd-acc9-d0b950b8f83e d9c49142-2c48-4d18-adf2-08fe0fd0ebb4 g.chr17:47486742delT ENST00000300408.3 - 4 416 c.344delA c.(343-345)gtfs p.D115fs RP11-81K2.1_ENST00000576461.1_Intron|PHB_ENST00000511832.1_Frame_Shift_Del_p.D115fs|PHB_ENST00000508009.1_5'UTR NM_002634.2 NP_002625.1 P35232 PHB_HUMAN prohibitin 115 cellular response to interleukin-6|DNA replication|glucocorticoid receptor signaling pathway|histone deacetylation|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|progesterone receptor signaling pathway|regulation of apoptosis integral to plasma membrane|mitochondrial inner membrane|nucleoplasm histone deacetylase binding|transcription regulatory region DNA binding endometrium(4)|large_intestine(2)|lung(4) 10 all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18) Epithelial(5;8.1e-06)|all cancers(6;7.71e-05) CACACGCTCATCATAGTCCTC 0.567 12 21 --- --- --- ---