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 PCGF2 7703 broad.mit.edu 37 17 36896590 36896591 + Missense_Mutation DNP CC CC TT TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr17:36896590_36896591CC>TT uc002hqp.1 - 2 311_312 c.65_66GG>AA c.(64-66)ggg>gAA p.G22E NM_007144 NP_009075 P35227 PCGF2_HUMAN Homo sapiens polycomb group ring finger 2 (PCGF2), mRNA. 22 negative regulation of transcription from RNA polymerase II promoter PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 10 Breast(7;9.07e-22) TGAAGTACCCCCCGCAGAGGGC 0.624000 10 57 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578275 7578275 + Nonsense_Mutation SNP G G A TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr17:7578275G>A uc002gim.2 - 5 768 c.574C>T c.(574-576)Cag>Tag p.Q192* TP53_uc002gig.1_Nonsense_Mutation_p.Q192*|TP53_uc002gih.3_Nonsense_Mutation_p.Q192*|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Nonsense_Mutation_p.Q60*|TP53_uc010cnf.1_Nonsense_Mutation_p.Q60*|TP53_uc002gii.1_Nonsense_Mutation_p.Q60*|TP53_uc010cni.1_Nonsense_Mutation_p.Q192*|TP53_uc010cnh.1_Nonsense_Mutation_p.Q192*|TP53_uc002gij.2_Nonsense_Mutation_p.Q192*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.Q99*|TP53_uc002gio.2_Nonsense_Mutation_p.Q60*|TP53_uc010vug.2_Nonsense_Mutation_p.Q153* NM_001126112 NP_001119587 P04637 P53_HUMAN Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA. 192 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation). 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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Q192*(154)|p.P191del(11)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.Q192R(5)|p.P191_E198>Q(4)|p.P191fs*53(4)|p.P191delP(4)|p.P191fs*56(3)|p.Q192H(3)|p.Q192K(3)|p.P191fs*6(2)|p.A189_Q192>E(2)|p.P191fs*15(2)|p.P191L(2)|p.P191R(2)|p.P191S(2)|p.G187fs*16(2)|p.P59delP(2)|p.P191_Q192delPQ(2)|p.P98delP(2)|p.Q192Q(2)|p.Q192del(2)|p.Q192fs*16(2)|p.L188_P191del(2)|p.Q192fs*30(2)|p.K164_P219del(1)|p.P59_E66>Q(1)|p.P191H(1)|p.P191fs*57(1)|p.P191fs*18(1)|p.P191P(1)|p.D186_P191delDGLAPP(1)|p.Q192>XXXXXXXXX(1)|p.P191T(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192fs*56(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) ATAAGATGCTGAGGAGGGGCC 0.557000 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) 9 26 0 0 1 0 0 RPL9 6133 broad.mit.edu 37 4 39460022 39460023 + Missense_Mutation DNP GG GG AA TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr4:39460022_39460023GG>AA uc003gub.3 - 0 185_186 c.37_38CC>TT c.(37-39)cca>TTa p.P13L RPL9_uc003guc.3_Missense_Mutation_p.P13L|RPL9_uc011byk.2_Non-coding_Transcript|RPL9_uc011byl.1_Missense_Mutation_p.P13L|RPL9_uc003gud.1_Missense_Mutation_p.P13L|LIAS_uc003gue.4_5'Flank|LIAS_uc011bym.2_5'Flank|LIAS_uc003guf.3_5'Flank|LIAS_uc003gug.3_5'Flank NM_001024921 NP_001020092 P32969 RL9_HUMAN Homo sapiens ribosomal protein L9 (RPL9), transcript variant 2, mRNA. 13 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|nucleolus|ribosome rRNA binding|structural constituent of ribosome haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|skin(1) 8 ACCATTTTCTGGAATGTCGACA 0.470000 11 45 0 0 1 0 0 SPSB3 90864 broad.mit.edu 37 16 1828539 1828539 + Silent SNP G G A TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr16:1828539G>A uc002cmu.3 - 2 292 c.201C>T c.(199-201)ggC>ggT p.G67G SPSB3_uc002cmt.3_5'UTR|SPSB3_uc010uvm.2_Silent_p.G122G NM_080861 NP_543137 Q6PJ21 SPSB3_HUMAN Homo sapiens splA/ryanodine receptor domain and SOCS box containing 3 (SPSB3), mRNA. 67 intracellular signal transduction endometrium(1)|kidney(4)|lung(3)|prostate(2) 10 AGAAGGACTCGCCGGTCACGG 0.677000 16 58 0 0 1 0 0 KTI12 112970 broad.mit.edu 37 1 52499429 52499429 + Missense_Mutation SNP G G A TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr1:52499429G>A uc001ctj.1 - 0 44 c.5C>T c.(4-6)cCg>cTg p.P2L TXNDC12_uc001cti.3_Intron NM_138417 NP_612426 Q96EK9 KTI12_HUMAN Homo sapiens KTI12 homolog, chromatin associated (S. cerevisiae) (KTI12), mRNA. 2 ATP binding central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1) 12 CACCACGAGCGGCATCCTCTC 0.657000 4 11 0 0 1 0 0 SLC16A13 201232 broad.mit.edu 37 17 6939881 6939881 + Silent SNP C C T TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr17:6939881C>T uc002geh.3 + 0 488 c.180C>T c.(178-180)atC>atT p.I60I NM_201566 NP_963860 Q7RTY0 MOT13_HUMAN Homo sapiens solute carrier family 16, member 13 (monocarboxylic acid transporter 13) (SLC16A13), mRNA. 60 integral to membrane|plasma membrane symporter activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 10 CCATAGGAATCGCGGTGCAGC 0.637000 5 42 0 0 1 0 0 SNX29 92017 broad.mit.edu 37 16 12121194 12121194 + Missense_Mutation SNP C C T TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr16:12121194C>T uc002dbw.2 + 3 202 c.140C>T c.(139-141)gCc>gTc p.A47V SNX29_uc002dby.4_5'UTR NM_032167 NP_115543 Q8TEQ0 SNX29_HUMAN Homo sapiens sorting nexin 29 (SNX29), mRNA. 0 cell communication phosphatidylinositol binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 7 TGTCTGTGTGCCCAGTTTGAA 0.572000 27 57 0 0 1 0 0 IRF1 3659 broad.mit.edu 37 5 131822017 131822017 + Missense_Mutation SNP G G A TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr5:131822017G>A uc003kxa.2 - 6 827 c.593C>T c.(592-594)cCa>cTa p.P198L C5orf56_uc010jds.2_Missense_Mutation_p.G60R|IRF1_uc003kxd.2_Intron|IRF1_uc003kxb.2_Missense_Mutation_p.P198L|IRF1_uc010jdt.2_Missense_Mutation_p.P198L NM_002198 NP_002189 P10914 IRF1_HUMAN Homo sapiens interferon regulatory factor 1 (IRF1), mRNA. 198 blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleoplasm cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1) 11 all_cancers(142;0.026)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) LUAD - Lung adenocarcinoma(142;0.247) AACTTCCACTGGGATGTGCCA 0.582000 4 88 0 0 1 0 0 ZDHHC16 84287 broad.mit.edu 37 10 99213324 99213324 + Silent SNP G G C TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr10:99213324G>C uc001knj.3 + 6 960 c.594G>C c.(592-594)cgG>cgC p.R198R ZDHHC16_uc001knk.3_Silent_p.R198R|ZDHHC16_uc001knl.3_Silent_p.R198R|ZDHHC16_uc001knm.3_Silent_p.R133R|ZDHHC16_uc001knn.3_Intron|ZDHHC16_uc010qow.2_Silent_p.R198R NM_198046 NP_932163 Q969W1 ZDH16_HUMAN Homo sapiens zinc finger, DHHC-type containing 16 (ZDHHC16), transcript variant 5, mRNA. 198 apoptosis endoplasmic reticulum membrane|integral to membrane acyltransferase activity|zinc ion binding kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 14 Colorectal(252;0.0846) Epithelial(162;5.81e-10)|all cancers(201;4.19e-08) ATAACCATCGGTACTTCTTCT 0.483000 5 168 0 0 1 0 0 ZNF710 374655 broad.mit.edu 37 15 90617455 90617455 + Silent SNP C C T TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr15:90617455C>T uc002bov.2 + 3 1881 c.1758C>T c.(1756-1758)ctC>ctT p.L586L NM_198526 NP_940928 Q8N1W2 ZN710_HUMAN Homo sapiens zinc finger protein 710 (ZNF710), mRNA. 586 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3) 19 Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04) BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129) AGTTTAATCTCAAGGGCAACC 0.592000 18 33 0 0 1 0 0 DCX 1641 broad.mit.edu 37 X 110653602 110653602 + Missense_Mutation SNP C C A TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chrX:110653602C>A uc011msv.2 - 1 440 c.268G>T c.(268-270)Gac>Tac p.D90Y DCX_uc004epd.3_Missense_Mutation_p.D90Y|DCX_uc004epe.3_Missense_Mutation_p.D9Y|DCX_uc004epf.3_Missense_Mutation_p.D9Y|DCX_uc004epg.3_Missense_Mutation_p.D9Y NM_178152 NP_835365 O43602 DCX_HUMAN Homo sapiens doublecortin (DCX), transcript variant 2, mRNA. 90 axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1) 41 TCTCTTTCGTCAAAGTGTCCA 0.507000 27 112 0 0 1 0 0 ZNF91 7644 broad.mit.edu 37 19 23544777 23544777 + Missense_Mutation SNP G G A TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr19:23544777G>A uc002nre.3 - 3 1117 c.1004C>T c.(1003-1005)tCa>tTa p.S335L ZNF91_uc010xrj.2_Missense_Mutation_p.S303L NM_003430 NP_003421 Q05481 ZNF91_HUMAN Homo sapiens zinc finger protein 91 (ZNF91), mRNA. 335 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) AGCAAGGGTTGAAGAACGGCT 0.383000 20 75 0 0 1 0 0 NMBR 4829 broad.mit.edu 37 6 142409595 142409595 + Silent SNP G G A TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr6:142409595G>A uc003qiu.3 - 0 342 c.201C>T c.(199-201)atC>atT p.I67I NM_002511 NP_002502 P28336 NMBR_HUMAN Homo sapiens neuromedin B receptor (NMBR), mRNA. 67 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger cytoplasm|integral to plasma membrane bombesin receptor activity breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013) TGGTGATGAAGATCTTCACCA 0.602000 15 24 0 0 1 0 0 MCM2 4171 broad.mit.edu 37 3 127335823 127335823 + Silent SNP C C T TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr3:127335823C>T uc003ejp.3 + 9 1692 c.1635C>T c.(1633-1635)ttC>ttT p.F545F MCM2_uc011bkm.2_Silent_p.F415F|MCM2_uc010hsl.3_Non-coding_Transcript|MCM2_uc011bkn.2_Silent_p.F498F NM_004526 NP_004517 P49736 MCM2_HUMAN Homo sapiens minichromosome maintenance complex component 2 (MCM2), mRNA. 545 MCM. DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint MCM complex|chromatin ATP binding|helicase activity|metal ion binding ovary(3)|skin(2)|stomach(1) 6 GAGCCATCTTCACCACTGGCC 0.607000 46 75 0 0 1 0 0 INTU 27152 broad.mit.edu 37 4 128554328 128554328 + Missense_Mutation SNP G G A TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr4:128554328G>A uc003ifk.2 + 0 242 c.139G>A c.(139-141)Gat>Aat p.D47N INTU_uc011cgq.2_Non-coding_Transcript NM_015693 NP_056508 Q9ULD6 PDZD6_HUMAN Homo sapiens inturned planar cell polarity effector homolog (Drosophila) (INTU), mRNA. 47 breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 43 AGCGAGTAGCGATTATGAGTA 0.488000 5 65 0 0 1 0 0 PLXND1 23129 broad.mit.edu 37 3 129324718 129324718 + Silent SNP G G A TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr3:129324718G>A uc003emx.2 - 0 865 c.765C>T c.(763-765)ttC>ttT p.F255F NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN Homo sapiens plexin D1 (PLXND1), mRNA. 255 Sema. axon guidance integral to membrane|intracellular|plasma membrane PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 GGTTGAGGTCGAAGGTGAAGA 0.657000 3 15 0 0 1 0 0 PCDHB10 56126 broad.mit.edu 37 5 140573408 140573408 + Missense_Mutation SNP C C T TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr5:140573408C>T uc003lix.3 + 0 1457 c.1283C>T c.(1282-1284)aCa>aTa p.T428I NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN Homo sapiens protocadherin beta 10 (PCDHB10), mRNA. 428 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GACTTGGGGACACCCAGGCTG 0.537000 33 46 0 0 1 0 0 BCAR3 8412 broad.mit.edu 37 1 94054850 94054850 + Missense_Mutation SNP C C T TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr1:94054850C>T uc001dpz.3 - 4 888 c.613G>A c.(613-615)Gtt>Att p.V205I BCAR3_uc001dqa.3_Missense_Mutation_p.V205I|BCAR3_uc001dqb.3_Missense_Mutation_p.V205I|BCAR3_uc001dpy.3_Missense_Mutation_p.V114I|LOC100129046_uc009wdn.3_5'Flank NM_003567 NP_003558 O75815 BCAR3_HUMAN Homo sapiens breast cancer anti-estrogen resistance 3 (BCAR3), mRNA. 205 SH2. response to drug|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1) 25 all_lung(203;0.00145)|Lung NSC(277;0.00662) all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166) AGTCGCAGAACTGTCCGGTTG 0.582000 4 22 0 0 1 0 0 ITGA3 3675 broad.mit.edu 37 17 48156836 48156836 + Missense_Mutation SNP G G T TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr17:48156836G>T uc010dbm.3 + 20 3085 c.2621G>T c.(2620-2622)cGg>cTg p.R874L ITGA3_uc010dbl.3_Missense_Mutation_p.R874L NM_005501 NP_005492 P26006 ITA3_HUMAN Homo sapiens integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) (ITGA3), transcript variant b, mRNA. 874 blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration cell surface|integrin complex protein binding|receptor activity endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 31 CAGCGCAGGCGGCGACAGCTG 0.627000 4 66 0 0 1 0 0 FREM1 158326 broad.mit.edu 37 9 14824915 14824915 + Missense_Mutation SNP C C A TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr9:14824915C>A uc003zlm.3 - 11 2773 c.1957G>T c.(1957-1959)Gtc>Ttc p.V653F FREM1_uc010mic.3_Non-coding_Transcript NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA. 653 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) GTTTCCTTGACAACCAAATGC 0.418000 8 35 0 0 1 0 0 PPP6C 5537 broad.mit.edu 37 9 127915858 127915858 + Missense_Mutation SNP C C G TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr9:127915858C>G uc010mwv.3 - 6 955 c.734G>C c.(733-735)aGt>aCt p.S245T PPP6C_uc004bpg.4_Missense_Mutation_p.S208T|PPP6C_uc010mww.3_Missense_Mutation_p.S186T|PPP6C_uc011lzr.2_Missense_Mutation_p.S61T NM_001123355 NP_001116827 O00743 PPP6_HUMAN Homo sapiens protein phosphatase 6, catalytic subunit (PPP6C), transcript variant 1, mRNA. 208 G1/S transition of mitotic cell cycle|protein dephosphorylation cytosol metal ion binding|protein binding|protein serine/threonine phosphatase activity NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3) 14 TCCTCGGGGACTGATAGCCCA 0.438000 14 10 0 0 1 0 0 RUFY3 22902 broad.mit.edu 37 4 71634264 71634264 + Nonsense_Mutation SNP C C A TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr4:71634264C>A uc003hfr.3 + 4 1177 c.582C>A c.(580-582)taC>taA p.Y194* RUFY3_uc003hfp.4_Nonsense_Mutation_p.Y254*|RUFY3_uc003hfq.3_Nonsense_Mutation_p.Y194*|RUFY3_uc011cax.2_Nonsense_Mutation_p.Y212*|RUFY3_uc011cay.2_Nonsense_Mutation_p.Y130* NM_001037442 NP_001032519 Q7L099 RUFY3_HUMAN Homo sapiens RUN and FYVE domain containing 3 (RUFY3), transcript variant 1, mRNA. 194 RUN. negative regulation of axonogenesis filopodium|growth cone p.F193C(1) endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1) 16 all_hematologic(202;0.248) Lung(101;0.235) GTGAATTCTACGAACCCAATG 0.388000 4 104 0 0 1 0 0 VTI1A 143187 broad.mit.edu 37 10 114298090 114298090 + Splice_Site SNP G G A TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr10:114298090G>A uc001kzz.3 + 5 803 c.427_splice c.e5+1 p.E143_splice VTI1A_uc001kzy.3_Splice_Site_p.E143_splice NM_145206 NP_660207 Q96AJ9 VTI1A_HUMAN Homo sapiens vesicle transport through interaction with t-SNAREs homolog 1A (yeast) (VTI1A), mRNA. 143 intracellular protein transport|retrograde transport, endosome to Golgi SNARE complex SNAP receptor activity|protein transporter activity VTI1A/TCF7L2(8) breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 6 Colorectal(252;0.0314)|Breast(234;0.183) Epithelial(162;0.0126)|all cancers(201;0.0487) GTGGAAACCGGTAAGAATTCT 0.453000 T TCF7L2 colorectal 19 61 0 0 1 0 0 CT47B1 643311 broad.mit.edu 37 X 120008779 120008779 + Missense_Mutation SNP G G A TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chrX:120008779G>A uc011muc.2 - 0 1001 c.746C>T c.(745-747)cCg>cTg p.P249L NM_001145718 NP_001139190 P0C2W7 CT47B_HUMAN Homo sapiens cancer/testis antigen family 47, member B1 (CT47B1), mRNA. 249 breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1) 22 CTCTGAGGTCGGTTCCTCTGC 0.692000 55 100 0 0 1 0 0 CASZ1 54897 broad.mit.edu 37 1 10720553 10720553 + Missense_Mutation SNP C C T TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr1:10720553C>T uc001aro.3 - 5 866 c.546G>A c.(544-546)atG>atA p.M182I CASZ1_uc001arp.1_Missense_Mutation_p.M182I|CASZ1_uc009vmx.2_Missense_Mutation_p.M206I|CASZ1_uc001arq.1_Missense_Mutation_p.M41I NM_001079843 NP_001073312 Q86V15 CASZ1_HUMAN Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA. 182 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) GGAACTCGGTCATGGTGGAGG 0.652000 5 21 0 0 1 0 0 C11orf53 341032 broad.mit.edu 37 11 111154827 111154827 + Missense_Mutation SNP G G A TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr11:111154827G>A uc001plc.3 + 2 181 c.34G>A c.(34-36)Ggt>Agt p.G12S NM_198498 NP_940900 Q8IXP5 CK053_HUMAN Homo sapiens chromosome 11 open reading frame 53 (C11orf53), mRNA. 12 p.G12C(2)|p.Y11Y(1) endometrium(1)|large_intestine(2)|lung(3)|skin(2) 8 all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147) Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507) AGGTTACTACGGTGTCAGAAG 0.502000 OREG0021325 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 178 0 0 1 0 0 IST1 9798 broad.mit.edu 37 16 71954709 71954709 + Missense_Mutation SNP G G A TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr16:71954709G>A uc002fbj.1 + 6 747 c.464G>A c.(463-465)gGa>gAa p.G155E IST1_uc010cgh.1_Missense_Mutation_p.G155E|IST1_uc002fbk.1_Missense_Mutation_p.G142E|IST1_uc002fbm.1_Missense_Mutation_p.G142E|IST1_uc002fbl.1_Missense_Mutation_p.G142E|IST1_uc010vml.1_5'Flank|IST1_uc010vmk.1_Intron P53990 IST1_HUMAN Homo sapiens increased sodium tolerance 1 homolog (yeast) (IST1), mRNA. 142 Interaction with CHMP1A and CHMP1B.|Interaction with VPS37B. cell cycle|cell division ER-Golgi intermediate compartment|cytoplasmic membrane-bounded vesicle protein binding AACCAGATTGGAACTGTGAAT 0.413000 3 83 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33833092 33833092 + Splice_Site SNP G G A TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr15:33833092G>A uc001zhi.3 + 7 716 c.646_splice c.e7+1 p.G216_splice RYR3_uc010bar.3_Splice_Site_p.G216_splice NM_001036 NP_001027 Q15413 RYR3_HUMAN Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA. 216 MIR 3. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) ATCGAAGAAGGTGTGCTTCTT 0.428000 6 62 0 0 1 0 0 C9orf116 138162 broad.mit.edu 37 9 138391667 138391667 + Missense_Mutation SNP C C T TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr9:138391667C>T uc004cft.1 - 0 95 c.31G>A c.(31-33)Gag>Aag p.E11K C9orf116_uc004cfs.1_Missense_Mutation_p.E11K|C9orf116_uc004cfu.1_Non-coding_Transcript|MRPS2_uc004cfv.4_5'Flank NM_001048265 NP_001041730 Q5BN46 CI116_HUMAN Homo sapiens chromosome 9 open reading frame 116 (C9orf116), transcript variant 1, mRNA. 11 OV - Ovarian serous cystadenocarcinoma(145;7.39e-08)|Epithelial(140;5.19e-07)|all cancers(34;1.04e-05) GCCACAGGCTCCGCGCACGCT 0.697000 4 5 0 0 1 0 0 TRIM10 10107 broad.mit.edu 37 6 30121959 30121959 + Silent SNP G G A TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr6:30121959G>A uc003npo.3 - 6 1309 c.1233C>T c.(1231-1233)ttC>ttT p.F411F TRIM10_uc003npn.2_Intron NM_006778 NP_006769 Q9UDY6 TRI10_HUMAN Homo sapiens tripartite motif containing 10 (TRIM10), transcript variant 1, mRNA. 411 B30.2/SPRY. cytoplasm zinc ion binding ovary(1) 1 GAGCCGAGACGAAGCCCCAAG 0.672000 11 23 0 0 1 0 0 CASP3 836 broad.mit.edu 37 4 185550615 185550615 + Missense_Mutation SNP G G A TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr4:185550615G>A uc003iwg.3 - 6 898 c.524C>T c.(523-525)tCa>tTa p.S175L CASP3_uc003iwh.3_Silent_p.F215F|CASP3_uc003iwi.3_Silent_p.F215F P42574 CASP3_HUMAN Homo sapiens caspase 3, apoptosis-related cysteine peptidase (CASP3), transcript variant alpha, mRNA. 0 DNA fragmentation involved in apoptotic nuclear change|activation of caspase activity by cytochrome c|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor cytosol|mitochondrion|nucleoplasm|plasma membrane cysteine-type endopeptidase activity|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1) 12 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592) all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161) Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641) GCGACTGGATGAACCAGGAGC 0.393000 15 42 0 0 1 0 0 IL29 282618 broad.mit.edu 37 19 39787080 39787080 + Missense_Mutation SNP G G A TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr19:39787080G>A uc002okv.3 + 0 116 c.19G>A c.(19-21)Gtg>Atg p.V7M NM_172140 NP_742152 Q8IU54 IL29_HUMAN Homo sapiens interleukin 29 (interferon, lambda 1) (IL29), mRNA. 7 defense response to virus|negative regulation of cell proliferation|negative regulation of interleukin-13 production|negative regulation of interleukin-5 production|negative regulation of memory T cell differentiation|negative regulation of transcription, DNA-dependent|negative regulation of type 2 immune response|positive regulation of MHC class I biosynthetic process|positive regulation of immune response|positive regulation of interferon-gamma production|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of STAT protein extracellular space|interleukin-28 receptor complex cytokine activity|interleukin-28 receptor binding endometrium(2)|lung(2) 4 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) AGCTTGGACCGTGGTGCTGGT 0.567000 19 60 0 0 1 0 0 HIST1H1E 3008 broad.mit.edu 37 6 26156747 26156747 + Silent SNP C C T TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr6:26156747C>T uc003ngq.3 + 0 189 c.129C>T c.(127-129)ctC>ctT p.L43L HIST1H2BD_uc003ngr.3_5'Flank|HIST1H2BD_uc003ngs.3_5'Flank NM_005321 NP_005312 P10412 H14_HUMAN Homo sapiens histone cluster 1, H1e (HIST1H1E), mRNA. 43 H15. nucleosome assembly nucleosome|nucleus DNA binding|protein binding NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 26 TGTCCGAGCTCATTACTAAAG 0.627000 13 38 0 0 1 0 0 ASPM 259266 broad.mit.edu 37 1 197115496 197115496 + Silent SNP C C T TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr1:197115496C>T uc001gtu.3 - 0 329 c.72G>A c.(70-72)ctG>ctA p.L24L ASPM_uc001gtv.3_Silent_p.L24L|ASPM_uc001gtw.4_5'UTR NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA. 24 mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 cggggccccgcagccccgcgg 0.701000 6 21 0 0 1 0 0 USP38 84640 broad.mit.edu 37 4 144109022 144109022 + Silent SNP G G A TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr4:144109022G>A uc003ijb.3 + 1 1260 c.726G>A c.(724-726)caG>caA p.Q242Q USP38_uc003ija.4_Silent_p.Q242Q|USP38_uc003ijc.3_Non-coding_Transcript NM_032557 NP_115946 Q8NB14 UBP38_HUMAN Homo sapiens ubiquitin specific peptidase 38 (USP38), mRNA. 242 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3) 33 all_hematologic(180;0.158) GCCTTGTGCAGCATATTCCTC 0.388000 3 49 0 0 1 0 0 SQLE 6713 broad.mit.edu 37 8 126033114 126033114 + Splice_Site SNP G G A TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr8:126033114G>A uc011liq.2 + 10 2458 c.1532_splice c.e10+1 p.V511_splice NM_003129 NP_003120 Q14534 ERG1_HUMAN Homo sapiens squalene epoxidase (SQLE), mRNA. 511 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome flavin adenine dinucleotide binding|squalene monooxygenase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1) 14 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857) TGCTTTCTGTGTAAGTTGTGA 0.383000 6 17 0 0 1 0 0 SESN3 143686 broad.mit.edu 37 11 94963999 94963999 + Missense_Mutation SNP G G A TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr11:94963999G>A uc001pfk.1 - 0 248 c.26C>T c.(25-27)tCg>tTg p.S9L SESN3_uc010rug.1_Intron|SESN3_uc001pfl.3_Missense_Mutation_p.S9L NM_144665 NP_653266 P58005 SESN3_HUMAN Homo sapiens sestrin 3 (SESN3), mRNA. 9 cell cycle arrest nucleus endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1) 16 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) BRCA - Breast invasive adenocarcinoma(274;0.234) GGCGGCGGCCGACGGGCTGCC 0.751000 5 9 0 0 1 0 0 TREM1 54210 broad.mit.edu 37 6 41254385 41254385 + Silent SNP C C T TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr6:41254385C>T uc003oqf.2 - 0 73 c.9G>A c.(7-9)aaG>aaA p.K3K TREM1_uc003oqg.2_Silent_p.K3K|TREM1_uc021yzj.1_Silent_p.K3K NM_018643 NP_061113 Q9NP99 TREM1_HUMAN Homo sapiens triggering receptor expressed on myeloid cells 1 (TREM1), transcript variant 1, mRNA. 3 blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration extracellular region|integral to membrane|intracellular|plasma membrane receptor activity NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1) 16 Ovarian(28;0.0327)|Colorectal(47;0.196) Glutathione(DB00143) AGAGCCTGGTCTTCCTCATCC 0.582000 12 52 0 0 1 0 0 CCDC80 151887 broad.mit.edu 37 3 112357200 112357200 + Missense_Mutation SNP G G T TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr3:112357200G>T uc003dzf.3 - 1 1771 c.1553C>A c.(1552-1554)tCt>tAt p.S518Y CCDC80_uc011bhv.2_Missense_Mutation_p.S518Y|CCDC80_uc003dzg.3_Missense_Mutation_p.S518Y|CCDC80_uc003dzh.1_Missense_Mutation_p.S518Y NM_199512 NP_955806 Q76M96 CCD80_HUMAN Homo sapiens coiled-coil domain containing 80 (CCDC80), transcript variant 2, mRNA. 518 Lys-rich. breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4) 51 CTCCAGCTGAGAGGCAGTAGG 0.473000 24 53 0 0 1 0 0 DNAJC22 79962 broad.mit.edu 37 12 49742735 49742735 + Missense_Mutation SNP G G A TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr12:49742735G>A uc001rua.3 + 1 481 c.80G>A c.(79-81)aGg>aAg p.R27K DNAJC22_uc001rub.3_Missense_Mutation_p.R27K NM_024902 NP_079178 Q8N4W6 DJC22_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 22 (DNAJC22), mRNA. 27 protein folding integral to membrane heat shock protein binding|unfolded protein binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1) 10 TACCTGGGAAGGGACAGCCAC 0.652000 4 78 0 0 1 0 0 FGD2 221472 broad.mit.edu 37 6 36983609 36983609 + Missense_Mutation SNP G G C TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr6:36983609G>C uc010jwp.1 + 8 1266 c.1095G>C c.(1093-1095)agG>agC p.R365S FGD2_uc003ong.2_Missense_Mutation_p.R87S|FGD2_uc011dtv.1_5'UTR NM_173558 NP_775829 Q7Z6J4 FGD2_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA. 365 PH 1. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 25 TCCAGGTGAGGACCCGCATCG 0.612000 2 6 0 0 1 0 0 MYO10 4651 broad.mit.edu 37 5 16689986 16689986 + Silent SNP G G A TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr5:16689986G>A uc003jft.4 - 27 4311 c.3843C>T c.(3841-3843)atC>atT p.I1281I MYO10_uc011cnc.2_Silent_p.I160I|MYO10_uc011cnd.2_Silent_p.I638I|MYO10_uc011cne.2_Silent_p.I638I|MYO10_uc010itx.3_Silent_p.I904I NM_012334 NP_036466 Q9HD67 MYO10_HUMAN Homo sapiens myosin X (MYO10), mRNA. 1281 PH 1. axon guidance|signal transduction myosin complex ATP binding|actin binding|motor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 CGGCCATAATGATGTCGATCC 0.468000 3 49 0 0 1 0 0 GABRA3 2556 broad.mit.edu 37 X 151336929 151336929 + Missense_Mutation SNP G G T TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chrX:151336929G>T uc010ntk.1 - 9 1490 c.1250C>A c.(1249-1251)tCc>tAc p.S417Y NM_000808 NP_000799 P34903 GBRA3_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA. 417 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6) 37 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) AGCGCCCTTGGAGATGGTGGA 0.557000 7 248 0 0 1 0 0 NAPG 8774 broad.mit.edu 37 18 10526109 10526109 + Nonsense_Mutation SNP C C T TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr18:10526109C>T uc002kon.3 + 0 237 c.10C>T c.(10-12)Cag>Tag p.Q4* NAPG_uc010wzr.2_5'UTR NM_003826 NP_003817 Q99747 SNAG_HUMAN Homo sapiens N-ethylmaleimide-sensitive factor attachment protein, gamma (NAPG), mRNA. 4 cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization membrane|membrane fraction|mitochondrion protein binding large_intestine(2)|lung(2) 4 GATGGCGGCTCAGAAGATAAA 0.597000 3 28 0 0 1 0 0 ID2 3398 broad.mit.edu 37 2 8822537 8822537 + Missense_Mutation SNP C C T TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr2:8822537C>T uc002qza.3 + 0 425 c.242C>T c.(241-243)tCg>tTg p.S81L NM_002166 NP_002157 Q02363 ID2_HUMAN Homo sapiens inhibitor of DNA binding 2, dominant negative helix-loop-helix protein (ID2), mRNA. 81 cellular senescence|embryonic digestive tract morphogenesis|endodermal digestive tract morphogenesis|epithelial cell differentiation involved in mammary gland alveolus development|mammary gland epithelial cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of neuron differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|neuron fate commitment|positive regulation of blood pressure|positive regulation of cell cycle arrest|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent protein complex protein binding p.S81S(1) breast(1)|large_intestine(1)|lung(1)|prostate(1) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) GCCCTGGACTCGCATCCCACT 0.587000 16 41 0 0 1 0 0 CTNND2 1501 broad.mit.edu 37 5 10973762 10973762 + Missense_Mutation SNP G G C TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr5:10973762G>C uc003jfa.1 - 21 3626 c.3481C>G c.(3481-3483)Cag>Gag p.Q1161E CTNND2_uc010itt.2_Missense_Mutation_p.Q1070E|CTNND2_uc011cmy.1_Missense_Mutation_p.Q824E|CTNND2_uc011cmz.1_Missense_Mutation_p.Q728E|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.Q753E NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA. 1161 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 GTGGAATTCTGAAATGGCTGG 0.532000 19 47 0 0 1 0 0 TRIM46 80128 broad.mit.edu 37 1 155149705 155149705 + Missense_Mutation SNP G G A TCGA-EM-A1YB-01A-11D-A14W-08 TCGA-EM-A1YB-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d01545d4-8162-4d14-9c1f-b86832e1c2d4 9443fcf8-ae1f-4a09-adf8-503bb03f63db g.chr1:155149705G>A uc001fhs.1 + 4 931 c.848G>A c.(847-849)gGa>gAa p.G283E TRIM46_uc009wpe.1_Non-coding_Transcript|TRIM46_uc010pez.1_Missense_Mutation_p.G270E|TRIM46_uc001fhq.3_Non-coding_Transcript|TRIM46_uc001fhr.3_Missense_Mutation_p.G283E|TRIM46_uc001fht.1_Non-coding_Transcript|TRIM46_uc010pfa.1_Missense_Mutation_p.G157E|TRIM46_uc001fhu.1_Missense_Mutation_p.G260E|TRIM46_uc009wpg.1_Missense_Mutation_p.G270E|TRIM46_uc001fhw.1_Non-coding_Transcript NM_025058 NP_079334 Q7Z4K8 TRI46_HUMAN Homo sapiens tripartite motif containing 46 (TRIM46), mRNA. 283 intracellular zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 29 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) TACATCCTGGGAAACCAGGAC 0.612000 35 126 0 0 1 0 0