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 SPZ1 84654 broad.mit.edu 37 5 79616416 79616416 + Missense_Mutation SNP C C T TCGA-DU-5870-01A-11D-1705-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71d8a2ac-861c-4348-a5f7-b03e1a6ee007 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr5:79616416C>T ENST00000296739.4 + 1 627 c.382C>T c.(382-384)Cct>Tct p.P128S NM_032567.3 NP_115956.3 Q9BXG8 SPZ1_HUMAN spermatogenic leucine zipper 1 128 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2) 26 Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36) AACAAACCTGCCTGTTAGTTT 0.363000 30 45 0 0 0.125774 0 0 PCDHA11 0 broad.mit.edu 37 5 140249978 140249978 + Silent SNP T T C TCGA-DU-5870-01A-11D-1705-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71d8a2ac-861c-4348-a5f7-b03e1a6ee007 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr5:140249978T>C ENST00000398640.2 + 1 1290 c.1290T>C c.(1288-1290)ggT>ggC p.G430G PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron NM_018902.3 NP_061725.1 breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGATGGGGGTTCGCCTTCTC 0.617000 37 90 0 0 0.092188 0 0 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A A G rs9424867 TCGA-DU-5870-01A-11D-1705-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71d8a2ac-861c-4348-a5f7-b03e1a6ee007 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr1:145302714A>G ENST00000342960.5 + 8 1187 c.1152A>G c.(1150-1152)ttA>ttG p.L384L RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 384 p.L113L(3)|p.L384L(3) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AGGAGAAGTTACGGGAAGGGA 0.527000 5 50 0 0 0.184627 0 0 CD40LG 959 broad.mit.edu 37 X 135741431 135741431 + Missense_Mutation SNP G G A TCGA-DU-5870-01A-11D-1705-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71d8a2ac-861c-4348-a5f7-b03e1a6ee007 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chrX:135741431G>A ENST00000370629.2 + 5 699 c.643G>A c.(643-645)Gcc>Acc p.A215T CD40LG_ENST00000370628.2_Missense_Mutation_p.A194T NM_000074.2 NP_000065.1 P29965 CD40L_HUMAN CD40 ligand 215 anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production extracellular space|integral to plasma membrane|soluble fraction CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1) 26 Acute lymphoblastic leukemia(192;0.000127) Atorvastatin(DB01076) CCACAGTTCCGCCAAACCTTG 0.493000 Immune Deficiency with Hyper-IgM 6 268 0 0 0.029380 0 0 ERCC6L2 375748 broad.mit.edu 37 9 98775227 98775227 + Silent SNP A A G TCGA-DU-5870-01A-11D-1705-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71d8a2ac-861c-4348-a5f7-b03e1a6ee007 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr9:98775227A>G ENST00000407474.3 + 4 1851 c.1338A>G c.(1336-1338)tcA>tcG p.S446S Q5T890 RAD26_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2 15 DNA repair nucleus ATP binding|ATP-dependent helicase activity|DNA binding AAGTTCTTTCAGGGCCCATGG 0.398000 10 20 0 0 0.058154 0 0 CIC 23152 broad.mit.edu 37 19 42791757 42791757 + Missense_Mutation SNP C C T TCGA-DU-5870-01A-11D-1705-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71d8a2ac-861c-4348-a5f7-b03e1a6ee007 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr19:42791757C>T ENST00000572681.2 + 6 3438 c.3370C>T c.(3370-3372)Cgg>Tgg p.R1124W CIC_ENST00000160740.3_Missense_Mutation_p.R215W|CIC_ENST00000575354.2_Missense_Mutation_p.R215W Q96RK0 CIC_HUMAN capicua transcriptional repressor 215 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding p.R215W(4) autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) CAAGCGGCACCGGGCCCTGGT 0.612000 """Mis, F, S""" oligodendroglioma 10 15 0 0 0.058154 0 0 ATP1A2 477 broad.mit.edu 37 1 160098456 160098456 + Silent SNP G G C TCGA-DU-5870-01A-11D-1705-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71d8a2ac-861c-4348-a5f7-b03e1a6ee007 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr1:160098456G>C ENST00000361216.3 + 9 1121 c.1032G>C c.(1030-1032)ctG>ctC p.L344L ATP1A2_ENST00000392233.3_Silent_p.L344L|ATP1A2_ENST00000472488.1_3'UTR NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 344 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) GCCTGACCCTGACAGCCAAGC 0.572000 3 58 0 0 0.115264 0 0 GPR125 166647 broad.mit.edu 37 4 22390382 22390382 + Missense_Mutation SNP T T C TCGA-DU-5870-01A-11D-1705-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71d8a2ac-861c-4348-a5f7-b03e1a6ee007 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr4:22390382T>C ENST00000334304.5 - 19 3181 c.2912A>G c.(2911-2913)aAt>aGt p.N971S GPR125_ENST00000282943.5_5'UTR NM_145290.2 NP_660333.2 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 971 neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 56 Breast(46;0.198) ATCCTGATGATTTATTTCGCC 0.433000 26 60 0 0 0.099896 0 0 ZNF366 0 broad.mit.edu 37 5 71739768 71739768 + Missense_Mutation SNP C C A TCGA-DU-5870-01A-11D-1705-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71d8a2ac-861c-4348-a5f7-b03e1a6ee007 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr5:71739768C>A ENST00000318442.5 - 5 2540 c.2050G>T c.(2050-2052)Ggg>Tgg p.G684W NM_152625.1 NP_689838.1 Q8N895 ZN366_HUMAN zinc finger protein 366 684 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 35 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) CCCTCTGCCCCAAGGTCACCC 0.602000 4 140 0.150653 0.160373 0.150653 1 0 IRX2 153572 broad.mit.edu 37 5 2749842 2749842 + Silent SNP G G A TCGA-DU-5870-01A-11D-1705-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71d8a2ac-861c-4348-a5f7-b03e1a6ee007 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr5:2749842G>A ENST00000382611.6 - 2 557 c.309C>T c.(307-309)taC>taT p.Y103Y IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Silent_p.Y103Y NM_001134222.1 NP_001127694.1 Q9BZI1 IRX2_HUMAN iroquois homeobox 2 103 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2) 26 GBM - Glioblastoma multiforme(108;0.204) CCGCGCTGCCGTACGGGTGGT 0.672000 18 18 0 0 0.204396 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DU-5870-01A-11D-1705-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71d8a2ac-861c-4348-a5f7-b03e1a6ee007 8ecfbf90-3948-4e91-9eae-d052e56fdb4f 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 26 45 0 0 0.116897 0 0 SRGAP2 23380 broad.mit.edu 37 1 206566948 206566948 + Missense_Mutation SNP G G A rs2987928 TCGA-DU-5870-01A-11D-1705-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71d8a2ac-861c-4348-a5f7-b03e1a6ee007 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr1:206566948G>A ENST00000414007.1 + 3 329 c.329G>A c.(328-330)cGg>cAg p.R110Q SRGAP2_ENST00000419187.2_5'UTR O75044 FNBP2_HUMAN SLIT-ROBO Rho GTPase activating protein 2 250 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding NS(1)|breast(1)|kidney(1)|lung(1) 4 Breast(84;0.137) ATCAAAGCCCGGAATGAGTAC 0.428000 3 57 0 0 0.115264 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76074504 76074504 + RNA SNP C C T rs146281026 by1000genomes TCGA-DU-5870-01A-11D-1705-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71d8a2ac-861c-4348-a5f7-b03e1a6ee007 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr15:76074504C>T ENST00000395215.3 + 0 683 TGAACGCACACGTGACACAGG 0.572000 3 31 0 0 0.115264 0 0 FBLN1 2192 broad.mit.edu 37 22 45996261 45996261 + Missense_Mutation SNP G G A TCGA-DU-5870-01A-11D-1705-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71d8a2ac-861c-4348-a5f7-b03e1a6ee007 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr22:45996261G>A ENST00000348697.2 + 20 2194 c.2047G>A c.(2047-2049)Ggg>Agg p.G683R FBLN1_ENST00000327858.6_Missense_Mutation_p.G683R P23142 FBLN1_HUMAN fibulin 1 683 interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 30 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) CTATGTGGTCGGGGGCGTGGT 0.612000 24 250 0 0 0.069288 0 0 PIK3R1 5295 broad.mit.edu 37 5 67591097 67591097 + Missense_Mutation SNP A A G TCGA-DU-5870-01A-11D-1705-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71d8a2ac-861c-4348-a5f7-b03e1a6ee007 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr5:67591097A>G ENST00000521381.1 + 13 2306 c.1690A>G c.(1690-1692)Aac>Gac p.N564D PIK3R1_ENST00000396611.1_Missense_Mutation_p.N564D|PIK3R1_ENST00000523872.1_Missense_Mutation_p.N201D|PIK3R1_ENST00000336483.5_Missense_Mutation_p.N294D|PIK3R1_ENST00000274335.5_Missense_Mutation_p.N564D|PIK3R1_ENST00000320694.8_Missense_Mutation_p.N264D|PIK3R1_ENST00000521657.1_Missense_Mutation_p.N564D NM_181523.2 NP_852664.1 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 (alpha) 564 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.N564D(4)|p.D560_S565del(1)|p.0?(1)|p.?(1) breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 178 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) CAAACGTATGAACAGCATTAA 0.373000 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) 30 59 0 0 0.134883 0 0 NLRP4 147945 broad.mit.edu 37 19 56369920 56369920 + Silent SNP C C T TCGA-DU-5870-01A-11D-1705-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71d8a2ac-861c-4348-a5f7-b03e1a6ee007 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr19:56369920C>T ENST00000301295.6 + 3 1583 c.1161C>T c.(1159-1161)ggC>ggT p.G387G NLRP4_ENST00000346986.5_Silent_p.G387G|NLRP4_ENST00000587891.1_Silent_p.G312G NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 387 NACHT. ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) GTGCCGAGGGCCCGACTCCGC 0.562000 12 18 0 0 0.093190 0 0 ACTL8 81569 broad.mit.edu 37 1 18149709 18149709 + Missense_Mutation SNP G G A TCGA-DU-5870-01A-11D-1705-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71d8a2ac-861c-4348-a5f7-b03e1a6ee007 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr1:18149709G>A ENST00000375406.1 + 2 422 c.206G>A c.(205-207)cGg>cAg p.R69Q NM_030812.2 NP_110439.2 Q9H568 ACTL8_HUMAN actin-like 8 69 cytoplasm|cytoskeleton p.R69Q(1) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 28 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) CCCATCGAGCGGGGCCGCATC 0.597000 27 22 0 0 0.125774 0 0 TRMT10A 93587 broad.mit.edu 37 4 100479223 100479223 + Missense_Mutation SNP G G A TCGA-DU-5870-01A-11D-1705-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71d8a2ac-861c-4348-a5f7-b03e1a6ee007 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr4:100479223G>A ENST00000273962.3 - 3 643 c.331C>T c.(331-333)Cac>Tac p.H111Y TRMT10A_ENST00000394876.2_Missense_Mutation_p.H111Y|TRMT10A_ENST00000394877.3_Missense_Mutation_p.H111Y NM_152292.4 NP_689505.1 tRNA methyltransferase 10 homolog A (S. cerevisiae) ACCATCAAGTGATCAAAACTA 0.338000 10 19 0 0 0.069234 0 0 CASC1 55259 broad.mit.edu 37 12 25272177 25272177 + Missense_Mutation SNP T T C TCGA-DU-5870-01A-11D-1705-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71d8a2ac-861c-4348-a5f7-b03e1a6ee007 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr12:25272177T>C ENST00000354189.5 - 12 1507 c.1472A>G c.(1471-1473)gAg>gGg p.E491G CASC1_ENST00000395987.3_Missense_Mutation_p.E433G|CASC1_ENST00000395990.2_Missense_Mutation_p.E387G|CASC1_ENST00000320267.9_Missense_Mutation_p.E427G|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000545133.1_Missense_Mutation_p.E368G|CASC1_ENST00000537577.1_Missense_Mutation_p.E315G NM_001082972.1 NP_001076441.1 Q6TDU7 CASC1_HUMAN cancer susceptibility candidate 1 427 breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11) OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13) ATTTTCTGTCTCAAACTCTTC 0.383000 3 98 0 0 0.115264 0 0 TNR 7143 broad.mit.edu 37 1 175336428 175336428 + Missense_Mutation SNP C C T TCGA-DU-5870-01A-11D-1705-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71d8a2ac-861c-4348-a5f7-b03e1a6ee007 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr1:175336428C>T ENST00000367674.1 - 10 2677 c.1969G>A c.(1969-1971)Gta>Ata p.V657I TNR_ENST00000263525.2_Missense_Mutation_p.V657I NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 657 Fibronectin type-III 4. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) GTGCCAGGTACCAGATCTATC 0.478000 5 25 0 0 0.021553 0 0 THBS1 7057 broad.mit.edu 37 15 39882077 39882077 + Silent SNP G G A TCGA-DU-5870-01A-11D-1705-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71d8a2ac-861c-4348-a5f7-b03e1a6ee007 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr15:39882077G>A ENST00000260356.5 + 13 2163 c.1998G>A c.(1996-1998)ctG>ctA p.L666L NM_003246.2 NP_003237.2 P07996 TSP1_HUMAN thrombospondin 1 666 EGF-like 3. activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) GCAACTACCTGGGCCACTATA 0.602000 7 24 0 0 0.029380 0 0 FOXK1 221937 broad.mit.edu 37 7 4796757 4796757 + Missense_Mutation SNP C C G TCGA-DU-5870-01A-11D-1705-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71d8a2ac-861c-4348-a5f7-b03e1a6ee007 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr7:4796757C>G ENST00000328914.4 + 5 1183 c.1183C>G c.(1183-1185)Cgg>Ggg p.R395G FOXK1_ENST00000446823.1_Missense_Mutation_p.R232G NM_001037165.1 NP_001032242.1 P85037 FOXK1_HUMAN forkhead box K1 395 cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15) ACAGGCATTCCGGAAACGGAG 0.577000 35 76 0 0 0.092188 0 0 RAB3B 5865 broad.mit.edu 37 1 52442779 52442779 + Missense_Mutation SNP A A G TCGA-DU-5870-01A-11D-1705-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71d8a2ac-861c-4348-a5f7-b03e1a6ee007 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr1:52442779A>G ENST00000371655.3 - 2 223 c.11T>C c.(10-12)gTg>gCg p.V4A NM_002867.3 NP_002858.2 P20337 RAB3B_HUMAN RAB3B, member RAS oncogene family 4 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 9 ACCATCTGTCACTGAAGCCAT 0.473000 12 13 0 0 0.093190 0 0 SAMD11 148398 broad.mit.edu 37 1 874816 874817 + Frame_Shift_Ins INS - - T TCGA-DU-5870-01A-11D-1705-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71d8a2ac-861c-4348-a5f7-b03e1a6ee007 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr1:874816_874817insT ENST00000342066.3 + 7 765_766 c.682_683insT c.(682-684)cccfs p.P228fs NM_152486.2 NP_689699.2 Q96NU1 SAM11_HUMAN sterile alpha motif domain containing 11 228 nucleus breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199) CTGGCATGATCCCCCTCATCAC 0.644 5 1 --- --- --- --- TMEM132B 114795 broad.mit.edu 37 12 125834002 125834003 + Frame_Shift_Del DEL AG AG - TCGA-DU-5870-01A-11D-1705-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71d8a2ac-861c-4348-a5f7-b03e1a6ee007 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr12:125834002_125834003delAG ENST00000299308.3 + 2 65_66 c.57_58delAG c.(55-60)acagfs p.TE19fs TMEM132B_ENST00000418253.2_3'UTR NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 19 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) GTGCAGTGACAGAGAGTCGAGG 0.485 33 73 --- --- --- ---