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 PROS1 5627 broad.mit.edu 37 3 93624931 93624931 + Missense_Mutation SNP T T C TCGA-DU-5872-01A-11D-1705-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d597128b-776d-4925-908d-e5e1e4b18f8b ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr3:93624931T>C ENST00000394236.3 - 5 719 c.403A>G c.(403-405)Aaa>Gaa p.K135E PROS1_ENST00000407433.1_Missense_Mutation_p.K4E NM_000313.3 NP_000304.2 P07225 PROS_HUMAN protein S (alpha) 135 EGF-like 1. leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1) 46 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) TTTCCATCTTTGCAGCTCATA 0.408000 69 95 0 0 0.870114 0 0 LAMA3 3909 broad.mit.edu 37 18 21425086 21425086 + Silent SNP T T G TCGA-DU-5872-01A-11D-1705-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d597128b-776d-4925-908d-e5e1e4b18f8b ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr18:21425086T>G ENST00000313654.9 + 30 3958 c.3717T>G c.(3715-3717)ctT>ctG p.L1239L LAMA3_ENST00000399516.3_Silent_p.L1239L NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 1239 Domain IV 1 (domain IV B). cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCTTTTACCTTGAGTGAGTAT 0.493000 16 17 0 0 0.479597 0 0 PIAS3 10401 broad.mit.edu 37 1 145585437 145585437 + Missense_Mutation SNP C C G TCGA-DU-5872-01A-11D-1705-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d597128b-776d-4925-908d-e5e1e4b18f8b ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr1:145585437C>G ENST00000393045.2 + 14 1792 c.1702C>G c.(1702-1704)Cac>Gac p.H568D PIAS3_ENST00000369298.1_Missense_Mutation_p.H533D NM_006099.3 NP_006090.2 Q9Y6X2 PIAS3_HUMAN protein inhibitor of activated STAT, 3 568 positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2) 28 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GACCCCTTCTCACTTTCTGGG 0.637000 49 52 0 0 0.870114 0 0 ZNF451 26036 broad.mit.edu 37 6 57012701 57012701 + Nonsense_Mutation SNP G G A TCGA-DU-5872-01A-11D-1705-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d597128b-776d-4925-908d-e5e1e4b18f8b ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr6:57012701G>A ENST00000370706.4 + 10 2062 c.1818G>A c.(1816-1818)tgG>tgA p.W606* RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|ZNF451_ENST00000357489.3_Nonsense_Mutation_p.W606*|ZNF451_ENST00000491832.2_Nonsense_Mutation_p.W606*|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000589549.1_RNA NM_001031623.2 NP_001026794.1 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 606 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) GGGGTAAATGGCAATGCCGGA 0.418000 40 59 0 0 0.827153 0 0 MMP17 4326 broad.mit.edu 37 12 132329882 132329882 + Silent SNP G G T TCGA-DU-5872-01A-11D-1705-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d597128b-776d-4925-908d-e5e1e4b18f8b ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr12:132329882G>T ENST00000360564.1 + 8 1194 c.1092G>T c.(1090-1092)gtG>gtT p.V364V MMP17_ENST00000535182.1_3'UTR|MMP17_ENST00000535291.1_Silent_p.V280V|MMP17_ENST00000535004.1_5'UTR NM_016155.4 NP_057239.4 Q9ULZ9 MMP17_HUMAN matrix metallopeptidase 17 (membrane-inserted) 364 Hemopexin-like 1. proteolysis anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding endometrium(1)|large_intestine(3)|lung(1) 5 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05) GGCACCTGGTGTCCCTGCAGC 0.697000 3 20 0.115264 0.123698 0.115264 1 0 SPP2 6694 broad.mit.edu 37 2 234969077 234969077 + Missense_Mutation SNP G G A TCGA-DU-5872-01A-11D-1705-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d597128b-776d-4925-908d-e5e1e4b18f8b ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr2:234969077G>A ENST00000168148.3 + 4 486 c.398G>A c.(397-399)cGc>cAc p.R133H SPP2_ENST00000373368.1_Missense_Mutation_p.R133H NM_006944.2 NP_008875.1 Q13103 SPP24_HUMAN secreted phosphoprotein 2, 24kDa 133 bone remodeling|skeletal system development extracellular region endopeptidase inhibitor activity breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1) 12 Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182) Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846) GTGCATGCTCGCTGCAGCTGG 0.577000 19 34 0 0 0.608945 0 0 PLCH1 23007 broad.mit.edu 37 3 155200741 155200741 + Missense_Mutation SNP A A G TCGA-DU-5872-01A-11D-1705-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d597128b-776d-4925-908d-e5e1e4b18f8b ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr3:155200741A>G ENST00000460012.1 - 23 3341 c.2984T>C c.(2983-2985)cTc>cCc p.L995P PLCH1_ENST00000340059.7_Missense_Mutation_p.L1033P|PLCH1_ENST00000414191.1_Missense_Mutation_p.L995P|PLCH1_ENST00000334686.6_Missense_Mutation_p.L995P|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000494598.1_Intron Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 1033 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) ATCTTTGTGGAGCAGAGCACT 0.453000 28 53 0 0 0.681144 0 0 SLC12A7 10723 broad.mit.edu 37 5 1088447 1088447 + Missense_Mutation SNP G G A TCGA-DU-5872-01A-11D-1705-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d597128b-776d-4925-908d-e5e1e4b18f8b ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr5:1088447G>A ENST00000264930.5 - 5 561 c.518C>T c.(517-519)gCg>gTg p.A173V NM_006598.2 NP_006589.2 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride transporter), member 7 173 potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 32 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) GGTAGCGATCGCACTCATGGA 0.592000 3 3 0 0 0.150653 0 0 FAM161A 84140 broad.mit.edu 37 2 62067511 62067511 + Missense_Mutation SNP C C A TCGA-DU-5872-01A-11D-1705-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d597128b-776d-4925-908d-e5e1e4b18f8b ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr2:62067511C>A ENST00000404929.1 - 3 639 c.628G>T c.(628-630)Gat>Tat p.D210Y FAM161A_ENST00000405894.3_Missense_Mutation_p.D210Y NM_001201543.1 NP_001188472.1 Q3B820 F161A_HUMAN family with sequence similarity 161, member A 210 response to stimulus|visual perception centrosome breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 CGAATATAATCCTCAACACAA 0.408000 67 108 4.67498e-28 5.41314e-28 0.870114 1 0 CROCCP2 0 broad.mit.edu 37 1 16956491 16956491 + RNA SNP C C G TCGA-DU-5872-01A-11D-1705-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d597128b-776d-4925-908d-e5e1e4b18f8b ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr1:16956491C>G ENST00000412962.1 - 0 294 gatggggtttcgccatgttgg 0.577000 3 14 0 0 0.150653 0 0 SLC22A11 55867 broad.mit.edu 37 11 64323648 64323648 + Silent SNP G G A TCGA-DU-5872-01A-11D-1705-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d597128b-776d-4925-908d-e5e1e4b18f8b ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr11:64323648G>A ENST00000301891.4 + 1 551 c.177G>A c.(175-177)gcG>gcA p.A59A SLC22A11_ENST00000377581.3_Silent_p.A59A|SLC22A11_ENST00000490834.1_3'UTR|SLC22A11_ENST00000377585.3_Silent_p.A59A NM_018484.2 NP_060954.1 Q9NSA0 S22AB_HUMAN solute carrier family 22 (organic anion/urate transporter), member 11 59 urate metabolic process apical plasma membrane|external side of plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 Probenecid(DB01032) ATGGCTCTGCGGTTTCCACAA 0.627000 OREG0004031 type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 5 153 0 0 0.184627 0 0 TP53 7157 broad.mit.edu 37 17 7578394 7578394 + Missense_Mutation SNP T T C TCGA-DU-5872-01A-11D-1705-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d597128b-776d-4925-908d-e5e1e4b18f8b ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr17:7578394T>C ENST00000420246.2 - 5 668 c.536A>G c.(535-537)cAt>cGt p.H179R TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 179 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; 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.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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) GCAGCGCTCATGGTGGGGGCA 0.642000 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) 40 10 0 0 0.864702 0 0 PSMD12 5718 broad.mit.edu 37 17 65341917 65341917 + Silent SNP T T A TCGA-DU-5872-01A-11D-1705-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d597128b-776d-4925-908d-e5e1e4b18f8b ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr17:65341917T>A ENST00000356126.3 - 8 959 c.852A>T c.(850-852)tcA>tcT p.S284S PSMD12_ENST00000357146.4_Silent_p.S264S NM_002816.3 NP_002807.1 O00232 PSD12_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 12 284 PCI. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle protein binding breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1) 13 all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13) GAACCAAATCTGACTGTTCAT 0.358000 21 30 0 0 0.667858 0 0 CPO 130749 broad.mit.edu 37 2 207814342 207814342 + Splice_Site SNP T T C TCGA-DU-5872-01A-11D-1705-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d597128b-776d-4925-908d-e5e1e4b18f8b ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr2:207814342T>C ENST00000272852.3 + 2 116 c.68_splice c.e2-1 p.S24_splice NM_173077.2 NP_775100.1 Q8IVL8 CBPO_HUMAN carboxypeptidase O 24 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 14 LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142) CCTTTGCAGATCCTTAGCCCA 0.473000 25 39 0 0 0.654019 0 0 PRICKLE1 0 broad.mit.edu 37 12 42858963 42858963 + Silent SNP A A G TCGA-DU-5872-01A-11D-1705-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d597128b-776d-4925-908d-e5e1e4b18f8b ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr12:42858963A>G ENST00000455697.1 - 7 1158 c.873T>C c.(871-873)tgT>tgC p.C291C PRICKLE1_ENST00000445766.2_Silent_p.C291C|PRICKLE1_ENST00000548696.1_Silent_p.C291C|PRICKLE1_ENST00000552240.1_Silent_p.C291C|PRICKLE1_ENST00000345127.3_Silent_p.C291C|RP11-328C8.4_ENST00000547824.1_RNA NM_001144882.1|NM_001144883.1 NP_001138354.1|NP_001138355.1 Q96MT3 PRIC1_HUMAN prickle homolog 1 (Drosophila) 291 LIM zinc-binding 3. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus cytosol|nuclear membrane zinc ion binding p.C291C(1) NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 all_cancers(12;4.25e-05)|Breast(8;0.176) GBM - Glioblastoma multiforme(48;0.2) GAAGGAAGGGACATCCCAACA 0.522000 19 26 0 0 0.539581 0 0 MYH1 4619 broad.mit.edu 37 17 10419569 10419569 + Missense_Mutation SNP C C T TCGA-DU-5872-01A-11D-1705-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d597128b-776d-4925-908d-e5e1e4b18f8b ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr17:10419569C>T ENST00000226207.5 - 4 389 c.295G>A c.(295-297)Gag>Aag p.E99K CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 99 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 ACAGCAGGCTCGTGTAGATGA 0.473000 6 136 0 0 0.248553 0 0 BUB1 699 broad.mit.edu 37 2 111423902 111423902 + Missense_Mutation SNP T T C TCGA-DU-5872-01A-11D-1705-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d597128b-776d-4925-908d-e5e1e4b18f8b ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr2:111423902T>C ENST00000535254.1 - 8 902 c.835A>G c.(835-837)Aag>Gag p.K279E BUB1_ENST00000302759.6_Missense_Mutation_p.K299E|BUB1_ENST00000409311.1_Missense_Mutation_p.K299E NM_001278616.1 NP_001265545.1 O43683 BUB1_HUMAN BUB1 mitotic checkpoint serine/threonine kinase 299 MKRK -> IRHE (in Ref. 7; AAC39546). apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1) 45 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) TGATGCAACTTCTTATGAAGT 0.428000 12 24 0 0 0.387290 0 0 AKAP4 8852 broad.mit.edu 37 X 49957597 49957597 + Silent SNP A A G TCGA-DU-5872-01A-11D-1705-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d597128b-776d-4925-908d-e5e1e4b18f8b ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chrX:49957597A>G ENST00000376056.2 - 5 1890 c.1740T>C c.(1738-1740)ggT>ggC p.G580G AKAP4_ENST00000376058.2_Silent_p.G206G|AKAP4_ENST00000376064.3_Silent_p.G580G|AKAP4_ENST00000358526.2_Silent_p.G589G|AKAP4_ENST00000481402.1_5'UTR Q5JQC9 AKAP4_HUMAN A kinase (PRKA) anchor protein 4 589 cell projection organization|single fertilization|sperm motility cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum protein kinase A binding NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4) 41 Ovarian(276;0.236) CACTTTGGCCACCTCCACACT 0.488000 28 64 0 0 0.769981 0 0 DNM1P47 0 broad.mit.edu 37 15 102304747 102304747 + RNA SNP A A C rs146447248 by1000genomes TCGA-DU-5872-01A-11D-1705-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d597128b-776d-4925-908d-e5e1e4b18f8b ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr15:102304747A>C ENST00000561463.1 + 0 12793 CTCGTGGAGGAGTCGGCAGAG 0.607000 5 17 0 0 0.278610 0 0 TRRAP 8295 broad.mit.edu 37 7 98545941 98545941 + Missense_Mutation SNP C C T TCGA-DU-5872-01A-11D-1705-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d597128b-776d-4925-908d-e5e1e4b18f8b ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr7:98545941C>T ENST00000359863.4 + 33 4834 c.4625C>T c.(4624-4626)aCg>aTg p.T1542M TRRAP_ENST00000446306.3_Missense_Mutation_p.T1523M|TRRAP_ENST00000355540.3_Missense_Mutation_p.T1524M NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 1542 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GTCATGAAAACGGAGCGGGCG 0.498000 32 77 0 0 0.750413 0 0 WDR33 55339 broad.mit.edu 37 2 128522748 128522748 + Splice_Site SNP C C G TCGA-DU-5872-01A-11D-1705-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d597128b-776d-4925-908d-e5e1e4b18f8b ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr2:128522748C>G ENST00000322313.4 - 5 632 c.474_splice c.e5+1 p.Q158_splice WDR33_ENST00000393006.1_Splice_Site_p.Q158_splice|WDR33_ENST00000409658.3_Splice_Site_p.Q158_splice NM_018383.4 NP_060853.3 Q9C0J8 WDR33_HUMAN WD repeat domain 33 158 postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) TTATCATTACCTGTAATATTG 0.398000 13 13 0 0 0.411799 0 0 RERE 473 broad.mit.edu 37 1 8421423 8421423 + Missense_Mutation SNP A A G TCGA-DU-5872-01A-11D-1705-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d597128b-776d-4925-908d-e5e1e4b18f8b ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr1:8421423A>G ENST00000337907.3 - 19 2778 c.2144T>C c.(2143-2145)aTc>aCc p.I715T RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Missense_Mutation_p.I715T|RERE_ENST00000476556.1_Missense_Mutation_p.I161T|RERE_ENST00000377464.1_Missense_Mutation_p.I447T NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 715 multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) GGGGCTGGGGATGCTCGGGGA 0.627000 22 29 0 0 0.654019 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DU-5872-01A-11D-1705-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d597128b-776d-4925-908d-e5e1e4b18f8b ded34f93-720b-42b6-8a5c-680d6beab0e7 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 29 42 0 0 0.729181 0 0 CRYGN 155051 broad.mit.edu 37 7 151135095 151135095 + Missense_Mutation SNP C C T rs148445096 TCGA-DU-5872-01A-11D-1705-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d597128b-776d-4925-908d-e5e1e4b18f8b ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr7:151135095C>T ENST00000337323.2 - 2 383 c.257G>A c.(256-258)cGg>cAg p.R86Q RP4-555L14.4_ENST00000465549.1_RNA|CRYGN_ENST00000476631.1_5'UTR NM_144727.1 NP_653328.1 Q8WXF5 CRGN_HUMAN crystallin, gamma N 86 Beta/gamma crystallin 'Greek key' 2. central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4) 8 OV - Ovarian serous cystadenocarcinoma(82;0.00358) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TCCTACAGGCCGACAGGAGCC 0.627000 25 28 0 0 0.681144 0 0 HDAC4 9759 broad.mit.edu 37 2 239976491 239976491 + Silent SNP G G A TCGA-DU-5872-01A-11D-1705-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d597128b-776d-4925-908d-e5e1e4b18f8b ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr2:239976491G>A ENST00000345617.3 - 25 3818 c.3027C>T c.(3025-3027)ccC>ccT p.P1009P HDAC4_ENST00000543185.1_Silent_p.P593P NM_006037.3 NP_006028.2 P56524 HDAC4_HUMAN histone deacetylase 4 1009 Histone deacetylase. B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5) 62 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) CGTTTGCATTGGGTCTTTGCT 0.507000 34 58 0 0 0.788014 0 0 ATRX 546 broad.mit.edu 37 X 76813106 76813106 + Missense_Mutation SNP T T G TCGA-DU-5872-01A-11D-1705-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d597128b-776d-4925-908d-e5e1e4b18f8b ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chrX:76813106T>G ENST00000373344.5 - 30 6729 c.6515A>C c.(6514-6516)gAa>gCa p.E2172A ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.E2134A NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 2172 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.?(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) AATCTTATCTTCCATGGTTCC 0.338000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 34 64 0 0 0.769981 0 0 COL1A2 1278 broad.mit.edu 37 7 94057712 94057712 + Missense_Mutation SNP C C T TCGA-DU-5872-01A-11D-1705-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d597128b-776d-4925-908d-e5e1e4b18f8b ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr7:94057712C>T ENST00000297268.6 + 50 4105 c.3634C>T c.(3634-3636)Cca>Tca p.P1212S NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 1212 Fibrillar collagen NC1. axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TGAAAACATCCCAGCCAAGAA 0.488000 HNSCC(75;0.22) 34 98 0 0 0.769981 0 0 SETX 23064 broad.mit.edu 37 9 135205145 135205145 + Missense_Mutation SNP T T C TCGA-DU-5872-01A-11D-1705-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d597128b-776d-4925-908d-e5e1e4b18f8b ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr9:135205145T>C ENST00000372169.2 - 10 2022 c.1840A>G c.(1840-1842)Atc>Gtc p.I614V SETX_ENST00000393220.1_Missense_Mutation_p.I614V|SETX_ENST00000224140.5_Missense_Mutation_p.I614V Q7Z333 SETX_HUMAN senataxin 614 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) GCAGGAGAGATTTTACATGCA 0.353000 28 34 0 0 0.717897 0 0 RORB 6096 broad.mit.edu 37 9 77257427 77257427 + Missense_Mutation SNP G G C TCGA-DU-5872-01A-11D-1705-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d597128b-776d-4925-908d-e5e1e4b18f8b ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr9:77257427G>C ENST00000376896.2 + 4 945 c.333G>C c.(331-333)caG>caC p.Q111H RORB_ENST00000396204.2_Missense_Mutation_p.Q122H NM_006914.3 NP_008845.2 Q92753 RORB_HUMAN RAR-related orphan receptor B 122 Hinge (Potential). eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 12 ggcagcagcagAGTGGGGAGG 0.592000 11 36 0 0 0.411799 0 0 CCDC160 347475 broad.mit.edu 37 X 133379653 133379653 + Missense_Mutation SNP C C T TCGA-DU-5872-01A-11D-1705-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d597128b-776d-4925-908d-e5e1e4b18f8b ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chrX:133379653C>T ENST00000517294.1 + 3 1206 c.823C>T c.(823-825)Cgc>Tgc p.R275C CCDC160_ENST00000370809.4_Missense_Mutation_p.R275C A6NGH7 CC160_HUMAN coiled-coil domain containing 160 275 endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1) 17 GGCAAAGATCCGCGGAGAGCT 0.383000 9 12 0 0 0.307466 0 0 PLXNA3 55558 broad.mit.edu 37 X 153688767 153688767 + Missense_Mutation SNP A A G rs142949704 TCGA-DU-5872-01A-11D-1705-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d597128b-776d-4925-908d-e5e1e4b18f8b ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chrX:153688767A>G ENST00000369682.3 + 2 419 c.244A>G c.(244-246)Agc>Ggc p.S82G NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 82 Sema. axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CCCGCCCCCCAGCATGCGCGT 0.672000 9 15 0 0 0.335167 0 0 TRIM51 84767 broad.mit.edu 37 11 55655604 55655604 + Nonsense_Mutation SNP C C T TCGA-DU-5872-01A-11D-1705-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d597128b-776d-4925-908d-e5e1e4b18f8b ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr11:55655604C>T ENST00000449290.2 + 4 696 c.604C>T c.(604-606)Cga>Tga p.R202* TRIM51_ENST00000244891.3_Nonsense_Mutation_p.R59* NM_032681.3 NP_116070.2 Q9BSJ1 SPRY5_HUMAN tripartite motif-containing 51 202 intracellular zinc ion binding GGAAAGGCTGCGAAAGGAGGG 0.433000 19 40 0 0 0.654019 0 0 TAF1L 138474 broad.mit.edu 37 9 32632994 32632994 + Missense_Mutation SNP G G A TCGA-DU-5872-01A-11D-1705-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d597128b-776d-4925-908d-e5e1e4b18f8b ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr9:32632994G>A ENST00000242310.4 - 1 2673 c.2584C>T c.(2584-2586)Cgg>Tgg p.R862W NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 862 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) AGCCTCTTCCGGATGCTGCTT 0.443000 4 143 0 0 0.150653 0 0 TAS1R2 80834 broad.mit.edu 37 1 19166820 19166820 + Nonsense_Mutation SNP G G T TCGA-DU-5872-01A-11D-1705-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d597128b-776d-4925-908d-e5e1e4b18f8b ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr1:19166820G>T ENST00000375371.3 - 6 1814 c.1793C>A c.(1792-1794)tCg>tAg p.S598* NM_152232.2 NP_689418.2 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 598 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) GCCCCCAGCCGAGCGAACTAT 0.647000 26 42 5.61819e-17 6.33847e-17 0.693898 1 0 SPATA16 83893 broad.mit.edu 37 3 172631478 172631478 + Silent SNP A A G TCGA-DU-5872-01A-11D-1705-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d597128b-776d-4925-908d-e5e1e4b18f8b ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr3:172631478A>G ENST00000351008.3 - 10 1743 c.1560T>C c.(1558-1560)aaT>aaC p.N520N NM_031955.5 NP_114161.3 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 520 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) ACACACGTTCATTATTGTTTC 0.373000 21 36 0 0 0.654019 0 0 COL11A1 1301 broad.mit.edu 37 1 103380351 103380351 + Missense_Mutation SNP C C T TCGA-DU-5872-01A-11D-1705-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d597128b-776d-4925-908d-e5e1e4b18f8b ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr1:103380351C>T ENST00000358392.2 - 51 4186 c.3869G>A c.(3868-3870)aGa>aAa p.R1290K COL11A1_ENST00000512756.1_Missense_Mutation_p.R1162K|COL11A1_ENST00000370096.3_Missense_Mutation_p.R1278K|COL11A1_ENST00000353414.4_Missense_Mutation_p.R1239K NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1278 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging p.R1278T(1)|p.R1290T(1) NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TTTCTCTCCTCTTTCTCCTTT 0.453000 12 20 0 0 0.387290 0 0 AC018890.6 0 broad.mit.edu 37 2 175585079 175585079 + RNA DEL A A - TCGA-DU-5872-01A-11D-1705-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d597128b-776d-4925-908d-e5e1e4b18f8b ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr2:175585079delA ENST00000442996.1 + 0 217 TTTCATTCTCAAAAAAAAAAA 0.368 OREG0015078 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 6 --- --- --- --- ZNRF2 223082 broad.mit.edu 37 7 30325442 30325442 + Splice_Site DEL G G - TCGA-DU-5872-01A-11D-1705-08 TCGA-DU-5872-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx d597128b-776d-4925-908d-e5e1e4b18f8b ded34f93-720b-42b6-8a5c-680d6beab0e7 g.chr7:30325442delG ENST00000323037.4 + 1 1520 c.469_splice c.e1+1 p.G157_splice ZNRF2_ENST00000459998.1_3'UTR NM_147128.3 NP_667339.1 Q8NHG8 ZNRF2_HUMAN zinc and ring finger 2 157 cell junction|endosome membrane|lysosomal membrane|presynaptic membrane ligase activity|zinc ion binding breast(1)|endometrium(1)|lung(2)|prostate(1) 5 CATGTTTGGAGGTACGGACCC 0.726 2 4 --- --- --- ---