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 LIPC 3990 broad.mit.edu 37 15 58855814 58855814 + Missense_Mutation SNP C C T TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr15:58855814C>T ENST00000414170.3 + 9 1567 c.1280C>T c.(1279-1281)gCc>gTc p.A427V LIPC_ENST00000299022.5_Missense_Mutation_p.A427V|LIPC_ENST00000433326.2_Missense_Mutation_p.A366V|LIPC_ENST00000356113.6_Missense_Mutation_p.A427V P11150 LIPC_HUMAN lipase, hepatic 427 PLAT. cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling high-density lipoprotein particle apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Colorectal(260;0.215) GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548) GCAGTGTGGGCCAATGTCTGG 0.507000 6 83 0 0 1 0 0 KRTAP10-2 386679 broad.mit.edu 37 21 45971107 45971107 + Missense_Mutation SNP A A G TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr21:45971107A>G ENST00000391621.1 - 1 281 c.235T>C c.(235-237)Tgc>Cgc p.C79R KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron NM_198693.2 NP_941966.1 P60368 KR102_HUMAN keratin associated protein 10-2 79 22 X 5 AA repeats of C-C-X(3). keratin filament large_intestine(1)|lung(4)|skin(1) 6 TGCTGGCAGCACGAGGGCGTG 0.692000 6 220 0 0 1 0 0 GALC 2581 broad.mit.edu 37 14 88454494 88454494 + Missense_Mutation SNP T T A TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr14:88454494T>A ENST00000261304.2 - 3 428 c.322A>T c.(322-324)Aca>Tca p.T108S GALC_ENST00000544807.2_Missense_Mutation_p.T52S|GALC_ENST00000393569.2_Missense_Mutation_p.T82S|GALC_ENST00000393568.4_Missense_Mutation_p.T85S|GALC_ENST00000554916.1_5'UTR NM_000153.3|NM_001201401.1 NP_000144.2|NP_001188330.1 P54803 GALC_HUMAN galactosylceramidase 108 carbohydrate metabolic process|galactosylceramide catabolic process lysosome cation binding|galactosylceramidase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CTACCTGTTGTCTGCCCATCA 0.358000 15 30 0 0 1 0 0 MDM2 4193 broad.mit.edu 37 12 69230521 69230521 + Missense_Mutation SNP T T C TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr12:69230521T>C ENST00000462284.1 + 10 1212 c.910T>C c.(910-912)Tcc>Ccc p.S304P MDM2_ENST00000478070.1_Intron|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000360430.2_Missense_Mutation_p.S103P|MDM2_ENST00000356290.4_Missense_Mutation_p.S128P|MDM2_ENST00000350057.5_Missense_Mutation_p.S273P|MDM2_ENST00000299252.4_Missense_Mutation_p.S128P|MDM2_ENST00000258148.7_Missense_Mutation_p.S249P|MDM2_ENST00000258149.5_Missense_Mutation_p.S243P|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000540827.1_Missense_Mutation_p.S103P|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000348801.2_Intron NM_002392.4 NP_002383.2 Q00987 MDM2_HUMAN MDM2 oncogene, E3 ubiquitin protein ligase 298 ARF-binding.|Interaction with MTBP (By similarity).|Necessary for interaction with USP2.|Region II. cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1) 19 all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684) all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) TCCTGAAATTTCCTTAGCTGT 0.308000 A """sarcoma, glioma, colorectal, other""" 26 41 0 0 1 0 0 TSHZ1 10194 broad.mit.edu 37 18 72999933 72999933 + Silent SNP G G A TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr18:72999933G>A ENST00000322038.5 + 2 3020 c.2436G>A c.(2434-2436)acG>acA p.T812T TSHZ1_ENST00000580243.1_Silent_p.T857T NM_005786.5 NP_005777.3 Q6ZSZ6 TSH1_HUMAN teashirt zinc finger homeobox 1 857 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2) 42 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) AGTCCTCCACGCCCTCCACAG 0.602000 4 57 0 0 1 0 0 OR5D14 219436 broad.mit.edu 37 11 55563737 55563737 + Missense_Mutation SNP C C T rs145440752 byFrequency TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr11:55563737C>T ENST00000335605.1 + 1 706 c.706C>T c.(706-708)Cgc>Tgc p.R236C NM_001004735.1 NP_001004735.1 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, member 14 236 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 48 all_epithelial(135;0.196) TGTTAGTGGGCGCCACAAAGC 0.463000 32 52 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625875 29625875 + Missense_Mutation SNP T T C rs143761036 by1000genomes TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr20:29625875T>C ENST00000278882.3 + 5 499 c.119T>C c.(118-120)aTc>aCc p.I40T FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T p.I40T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGTACAGAATCGCCCTGAAA 0.358000 3 41 0 0 1 0 0 ICAM1 3383 broad.mit.edu 37 19 10394873 10394873 + Missense_Mutation SNP G G A TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr19:10394873G>A ENST00000264832.3 + 4 1127 c.802G>A c.(802-804)Gac>Aac p.D268N CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Missense_Mutation_p.D46N NM_000201.2 NP_000192.2 P05362 ICAM1_HUMAN intercellular adhesion molecule 1 268 Ig-like C2-type 3. adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor extracellular space|integral to plasma membrane integrin binding|transmembrane receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06) Natalizumab(DB00108)|Simvastatin(DB00641) CTATGGCAACGACTCCTTCTC 0.632000 26 42 0 0 1 0 0 SOCS1 0 broad.mit.edu 37 16 11349039 11349039 + Silent SNP G G T TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr16:11349039G>T ENST00000332029.2 - 2 447 c.297C>A c.(295-297)ggC>ggA p.G99G RMI2_ENST00000572173.1_Intron NM_003745.1 NP_003736.1 O15524 SOCS1_HUMAN suppressor of cytokine signaling 1 99 SH2. interferon-gamma-mediated signaling pathway|JAK-STAT cascade|negative regulation of insulin receptor signaling pathway|negative regulation of tyrosine phosphorylation of Stat3 protein|regulation of growth|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytosol insulin-like growth factor receptor binding|protein kinase binding|protein kinase inhibitor activity p.Y64fs*1(1)|p.0?(1)|p.D63_Q108del(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(66)|lung(3) 71 CCAGGAAGGTGCCCACGGGCT 0.706000 """F, O""" """Hodgkin Lymphoma, PMBL""" 3 10 1 1 1 1 0 CPA2 1358 broad.mit.edu 37 7 129929564 129929564 + Missense_Mutation SNP C C G TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr7:129929564C>G ENST00000222481.4 + 11 1292 c.1237C>G c.(1237-1239)Cat>Gat p.H413D NM_001869.2 NP_001860.2 P48052 CBPA2_HUMAN carboxypeptidase A2 (pancreatic) 413 proteolysis|vacuolar protein catabolic process extracellular region|vacuole metallocarboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Melanoma(18;0.0435) AATCATGGAGCATGTGCGAGA 0.512000 4 103 0 0 1 0 0 CCL11 6356 broad.mit.edu 37 17 32612839 32612839 + Silent SNP C C T TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr17:32612839C>T ENST00000305869.3 + 1 153 c.12C>T c.(10-12)tcC>tcT p.S4S NM_002986.2 NP_002977.1 P51671 CCL11_HUMAN chemokine (C-C motif) ligand 11 4 cell adhesion|cellular calcium ion homeostasis|immune response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|protein phosphorylation|response to radiation|response to virus|signal transduction extracellular space chemokine activity breast(1)|lung(1)|prostate(1) 3 Breast(3;0.00224) Breast(31;0.151)|Ovarian(249;0.17) BRCA - Breast invasive adenocarcinoma(366;0.155) TGAAGGTCTCCGCAGCACTTC 0.597000 12 207 0 0 1 0 0 KIAA1429 25962 broad.mit.edu 37 8 95530133 95530133 + Missense_Mutation SNP C C T TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr8:95530133C>T ENST00000297591.5 - 10 2626 c.2551G>A c.(2551-2553)Gca>Aca p.A851T KIAA1429_ENST00000421249.2_Missense_Mutation_p.A851T|KIAA1429_ENST00000437199.1_Missense_Mutation_p.A851T NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 851 mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) AGTATGCATGCGTAATTATAA 0.318000 8 12 0 0 1 0 0 AMPD1 270 broad.mit.edu 37 1 115216305 115216305 + Silent SNP G G A TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr1:115216305G>A ENST00000369538.3 - 14 2174 c.2127C>T c.(2125-2127)tgC>tgT p.C709C AMPD1_ENST00000353928.6_Silent_p.C680C|AMPD1_ENST00000520113.2_Silent_p.C713C NM_001172626.1 NP_001166097.1 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 680 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 45 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) TTGCCACTTCGCACATATCAC 0.438000 36 33 0 0 1 0 0 PTPRB 0 broad.mit.edu 37 12 71002871 71002871 + Silent SNP C C T TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr12:71002871C>T ENST00000334414.6 - 4 1001 c.957G>A c.(955-957)gaG>gaA p.E319E PTPRB_ENST00000538708.1_Silent_p.E101E|PTPRB_ENST00000551525.1_Silent_p.E318E|PTPRB_ENST00000550857.1_Silent_p.E101E|PTPRB_ENST00000261266.5_Silent_p.E101E|PTPRB_ENST00000550358.1_Silent_p.E319E|PTPRB_ENST00000451516.2_Silent_p.E101E|PTPRB_ENST00000538174.2_5'UTR NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 101 Fibronectin type-III 4. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) CCACTGTTCTCTCTTCATCCA 0.463000 5 120 0 0 1 0 0 FRMD7 90167 broad.mit.edu 37 X 131214292 131214292 + Missense_Mutation SNP C C G TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chrX:131214292C>G ENST00000298542.4 - 10 1083 c.908G>C c.(907-909)gGa>gCa p.G303A FRMD7_ENST00000464296.1_Missense_Mutation_p.G288A|FRMD7_ENST00000370879.1_Missense_Mutation_p.G183A NM_194277.2 NP_919253.1 Q6ZUT3 FRMD7_HUMAN FERM domain containing 7 303 regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Acute lymphoblastic leukemia(192;0.000127) TTGGGTTCGTCCACTATCATA 0.373000 3 12 0 0 1 0 0 MIA3 375056 broad.mit.edu 37 1 222803484 222803484 + Silent SNP C C G TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr1:222803484C>G ENST00000344922.5 + 4 2947 c.2922C>G c.(2920-2922)gtC>gtG p.V974V MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Silent_p.V974V|MIA3_ENST00000470521.1_3'UTR NM_198551.2 NP_940953.2 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 974 exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1) 80 GBM - Glioblastoma multiforme(131;0.0199) TGGAAAAAGTCCTAGATAAGG 0.428000 19 24 0 0 1 0 0 STARD6 147323 broad.mit.edu 37 18 51858176 51858176 + Missense_Mutation SNP G G A TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr18:51858176G>A ENST00000580990.2 - 3 263 c.43C>T c.(43-45)Ccc>Tcc p.P15S STARD6_ENST00000581310.1_Silent_p.S107S|STARD6_ENST00000307844.3_Silent_p.S107S P59095 STAR6_HUMAN StAR-related lipid transfer (START) domain containing 6 217 START. lipid transport lipid binding endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2) 8 Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188) AGTCTCGAGGGGAAATGGAGC 0.368000 3 63 0 0 1 0 0 MMP24 10893 broad.mit.edu 37 20 33862232 33862232 + Silent SNP C C T TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr20:33862232C>T ENST00000246186.6 + 9 1843 c.1758C>T c.(1756-1758)gaC>gaT p.D586D MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000455178.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000566203.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|RP4-614O4.11_ENST00000444717.1_RNA|EDEM2_ENST00000540582.1_Intron NM_006690.3 NP_006681.1 Q9Y5R2 MMP24_HUMAN matrix metallopeptidase 24 (membrane-inserted) 586 proteolysis integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5) 14 BRCA - Breast invasive adenocarcinoma(18;0.00252) CCCAGGACGACGTGGACATCA 0.657000 90 131 0 0 1 0 0 GALNT16 57452 broad.mit.edu 37 14 69813836 69813836 + Missense_Mutation SNP G G A TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr14:69813836G>A ENST00000337827.4 + 13 1678 c.1351G>A c.(1351-1353)Ggt>Agt p.G451S GALNT16_ENST00000553669.1_Missense_Mutation_p.G451S|GALNT16_ENST00000448469.3_Missense_Mutation_p.G451S NM_001168368.1|NM_020692.2 NP_001161840.1|NP_065743.2 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16 GAACACAGCTGGTGACTTCCT 0.587000 OREG0022763 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 81 0 0 1 0 0 EFCAB5 374786 broad.mit.edu 37 17 28409944 28409944 + Silent SNP C C T TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr17:28409944C>T ENST00000394835.3 + 18 3654 c.3462C>T c.(3460-3462)taC>taT p.Y1154Y EFCAB5_ENST00000320856.5_Silent_p.Y1030Y|EFCAB5_ENST00000394832.2_Intron NM_198529.3 NP_940931.2 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 1154 calcium ion binding breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 CCTATCACTACGTCCACAGCC 0.398000 23 143 0 0 1 0 0 MYH7B 57644 broad.mit.edu 37 20 33567544 33567544 + Silent SNP G G A TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr20:33567544G>A ENST00000262873.7 + 5 497 c.405G>A c.(403-405)acG>acA p.T135T NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 93 Myosin head-like. membrane|myosin filament actin binding|ATP binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) CCATGATGACGCACCTGAACG 0.637000 47 71 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152084077 152084077 + Missense_Mutation SNP C C G TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr1:152084077C>G ENST00000368804.1 - 2 1615 c.1616G>C c.(1615-1617)aGa>aCa p.R539T NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 539 9 X 28 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGCTCGCGTCTTAGTTGTTG 0.652000 15 241 0 0 1 0 0 FAM192A 80011 broad.mit.edu 37 16 57206707 57206707 + Translation_Start_Site SNP G G A TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr16:57206707G>A ENST00000566077.1 - 0 360 FAM192A_ENST00000309137.8_Silent_p.Y69Y|FAM192A_ENST00000389447.5_Silent_p.Y69Y|FAM192A_ENST00000567439.1_Silent_p.Y69Y|FAM192A_ENST00000564108.1_Silent_p.Y69Y|FAM192A_ENST00000569266.1_Silent_p.Y69Y Q9GZU8 F192A_HUMAN family with sequence similarity 192, member A nucleus endometrium(2)|large_intestine(3)|lung(4)|prostate(2) 11 ACTGTTCCTCGTACTCCTGCT 0.468000 42 46 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18844888 18844888 + RNA SNP A A G TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr22:18844888A>G ENST00000412938.1 + 0 3138 GCTCACGGAAATACAGCTTCA 0.587000 4 72 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 7023260 7023260 + Silent SNP C C A TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr18:7023260C>A ENST00000389658.3 - 19 2697 c.2604G>T c.(2602-2604)ggG>ggT p.G868G NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 868 Laminin EGF-like 8. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding p.G868G(1) NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCAGGCACTCCCCGGTGACTG 0.602000 32 39 1.26612e-14 1.32455e-14 1 1 0 IDH1 3417 broad.mit.edu 37 2 209113113 209113113 + Missense_Mutation SNP G G A rs121913499 TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr2:209113113G>A ENST00000415913.1 - 4 775 c.394C>T c.(394-396)Cgt>Tgt p.R132C IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C 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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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) TAAGCATGACGACCTATGATG 0.398000 Mis gliobastoma 23 41 0 0 1 0 0 TCEB3B 51224 broad.mit.edu 37 18 44561111 44561111 + Silent SNP T T G TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr18:44561111T>G ENST00000332567.4 - 1 877 c.525A>C c.(523-525)acA>acC p.T175T KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 175 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 GGAGGGGAGCTGTGCGCGTTG 0.687000 4 65 0 0 1 0 0 RBAK 57786 broad.mit.edu 37 7 5104674 5104674 + Missense_Mutation SNP C C G TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr7:5104674C>G ENST00000396912.1 + 5 2106 c.1587C>G c.(1585-1587)caC>caG p.H529Q RBAK_ENST00000353796.3_Missense_Mutation_p.H529Q|RBAK_ENST00000396904.2_Intron|RBAK_ENST00000407184.1_Intron NM_021163.3 NP_066986.1 Q9NYW8 RBAK_HUMAN RB-associated KRAB zinc finger 529 Interaction with AR. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 10 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14) TCGATGGGCACCAGCCACTTC 0.383000 18 39 0 0 1 0 0 KCNB1 3745 broad.mit.edu 37 20 48098819 48098819 + Missense_Mutation SNP C C G TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr20:48098819C>G ENST00000371741.4 - 1 365 c.199G>C c.(199-201)Gac>Cac p.D67H NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 67 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) AGCAGCGAGTCGTGCGTGTTG 0.662000 5 44 0 0 1 0 0 SRRM1 10250 broad.mit.edu 37 1 24995840 24995840 + Silent SNP T T C TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr1:24995840T>C ENST00000323848.9 + 14 2281 c.1966T>C c.(1966-1968)Tta>Cta p.L656L SRRM1_ENST00000447431.2_Silent_p.L668L|SRRM1_ENST00000374389.4_Silent_p.L665L|SRRM1_ENST00000479034.1_3'UTR NM_005839.3 NP_005830.2 Q8IYB3 SRRM1_HUMAN serine/arginine repetitive matrix 1 656 Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck DNA binding|protein binding|RNA binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 36 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) TTCACCTTCATTATCATCCAA 0.567000 3 53 0 0 1 0 0 CACNA1B 774 broad.mit.edu 37 9 140946550 140946550 + Silent SNP C C G TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr9:140946550C>G ENST00000277549.5 + 26 3874 c.1305C>G c.(1303-1305)tcC>tcG p.S435S CACNA1B_ENST00000277551.2_Silent_p.S1239S|CACNA1B_ENST00000371355.4_Silent_p.S1240S|CACNA1B_ENST00000371357.1_Silent_p.S1240S|CACNA1B_ENST00000371363.1_Silent_p.S1239S|CACNA1B_ENST00000371372.1_Silent_p.S1239S Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 1239 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) CTAGAGGATCCAAAGGGAAAG 0.582000 8 15 0 0 1 0 0 ANKRD11 29123 broad.mit.edu 37 16 89351668 89351668 + Missense_Mutation SNP G G C TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr16:89351668G>C ENST00000301030.4 - 9 1742 c.1282C>G c.(1282-1284)Ctc>Gtc p.L428V ANKRD11_ENST00000378330.2_Missense_Mutation_p.L428V NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 428 nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) TGTGCCGAGAGTCTCAGCTTC 0.488000 8 100 0 0 1 0 0 ZIC4 84107 broad.mit.edu 37 3 147108852 147108852 + Silent SNP G G C TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr3:147108852G>C ENST00000383075.3 - 4 1382 c.870C>G c.(868-870)cgC>cgG p.R290R ZIC4_ENST00000473123.1_Silent_p.R290R|ZIC4_ENST00000491672.1_Silent_p.R84R|ZIC4_ENST00000525172.2_Silent_p.R340R|ZIC4_ENST00000425731.3_Silent_p.R328R|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000484399.1_Silent_p.R290R NM_032153.5 NP_115529.2 Q8N9L1 ZIC4_HUMAN Zic family member 4 290 nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4) 57 GCGGCGGCGAGCGCCCGTGCA 0.667000 5 108 0 0 1 0 0 CSNK1G2 1455 broad.mit.edu 37 19 1979554 1979554 + Missense_Mutation SNP A A G TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr19:1979554A>G ENST00000255641.8 + 9 1409 c.914A>G c.(913-915)tAt>tGt p.Y305C NM_001319.6 NP_001310.3 P78368 KC1G2_HUMAN casein kinase 1, gamma 2 305 Protein kinase. sphingolipid metabolic process|Wnt receptor signaling pathway cytosol ATP binding|protein serine/threonine kinase activity endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1) 8 Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AAGCCCGACTATGACTACCTG 0.652000 35 46 0 0 1 0 0 GABRG2 0 broad.mit.edu 37 5 161569181 161569181 + Missense_Mutation SNP G G T TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr5:161569181G>T ENST00000356592.3 + 7 1241 c.781G>T c.(781-783)Gtc>Ttc p.V261F GABRG2_ENST00000414552.2_Missense_Mutation_p.V301F|GABRG2_ENST00000393933.4_Missense_Mutation_p.V166F|GABRG2_ENST00000361925.4_Missense_Mutation_p.V261F NM_000816.3|NM_198904.2 NP_000807.2|NP_944494.1 P18507 GBRG2_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 2 261 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding p.V261F(1) NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 62 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) AGATTATGTGGTCATGTCTGT 0.403000 33 77 1.32136e-16 1.42622e-16 1 1 0 MMP20 9313 broad.mit.edu 37 11 102465488 102465488 + Splice_Site SNP C C G TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr11:102465488C>G ENST00000260228.2 - 7 966 c.953_splice c.e7-1 p.R318_splice MMP20_ENST00000544938.1_5'UTR NM_004771.3 NP_004762.2 O60882 MMP20_HUMAN matrix metallopeptidase 20 318 Hemopexin-like 1. proteolysis|regulation of enamel mineralization extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13) BRCA - Breast invasive adenocarcinoma(274;0.0161) TCCAGAAAATCCTATGGGACA 0.418000 15 18 0 0 1 0 0 HEPACAM2 253012 broad.mit.edu 37 7 92838050 92838050 + Missense_Mutation SNP C C G TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr7:92838050C>G ENST00000394468.2 - 4 932 c.855G>C c.(853-855)agG>agC p.R285S HEPACAM2_ENST00000341723.4_Missense_Mutation_p.R273S|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.R273S|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.R308S NM_001039372.1 NP_001034461.1 A8MVW5 HECA2_HUMAN HEPACAM family member 2 285 Ig-like C2-type 2. integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1) 28 TATTGTCAGTCCTCCTAATCC 0.443000 26 23 0 0 1 0 0 SLC17A6 57084 broad.mit.edu 37 11 22360149 22360149 + Missense_Mutation SNP C C G TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr11:22360149C>G ENST00000263160.3 + 1 507 c.70C>G c.(70-72)Ctc>Gtc p.L24V NM_020346.2 NP_065079.1 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 6 24 sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3) 50 TGGAAAATCACTCGGCCAGAT 0.473000 9 26 0 0 1 0 0 ZNF460 10794 broad.mit.edu 37 19 57802257 57802257 + Missense_Mutation SNP G G C TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr19:57802257G>C ENST00000360338.3 + 3 670 c.348G>C c.(346-348)gaG>gaC p.E116D ZNF460_ENST00000537645.1_Missense_Mutation_p.E75D NM_006635.3 NP_006626.3 Q14592 ZN460_HUMAN zinc finger protein 460 116 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CACAGAGTGAGAAACTCCATG 0.473000 37 53 0 0 1 0 0 UGT2B10 7365 broad.mit.edu 37 4 69696406 69696406 + Missense_Mutation SNP G G C TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr4:69696406G>C ENST00000265403.7 + 6 1423 c.1396G>C c.(1396-1398)Gtc>Ctc p.V466L UGT2B10_ENST00000458688.2_Missense_Mutation_p.V382L NM_001075.4 NP_001066.1 P36537 UDB10_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B10 466 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29 GATTGAATTTGTCATGCGCCA 0.438000 11 188 0 0 1 0 0 VAX2 25806 broad.mit.edu 37 2 71148309 71148309 + Missense_Mutation SNP C C T TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr2:71148309C>T ENST00000234392.2 + 2 361 c.329C>T c.(328-330)aCt>aTt p.T110I NM_012476.2 NP_036608.1 Q9UIW0 VAX2_HUMAN ventral anterior homeobox 2 110 ectoderm development|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1) 7 ACATCCTTCACTGCCGAGCAG 0.622000 4 76 0 0 1 0 0 DIAPH1 1729 broad.mit.edu 37 5 140958726 140958726 + Missense_Mutation SNP C C G TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr5:140958726C>G ENST00000253811.6 - 9 1002 c.862G>C c.(862-864)Gag>Cag p.E288Q DIAPH1_ENST00000389057.5_Missense_Mutation_p.E279Q|DIAPH1_ENST00000398557.4_Missense_Mutation_p.E288Q|DIAPH1_ENST00000398562.2_Missense_Mutation_p.E279Q|DIAPH1_ENST00000389054.3_Missense_Mutation_p.E288Q|DIAPH1_ENST00000398566.3_Missense_Mutation_p.E279Q|DIAPH1_ENST00000520569.1_Missense_Mutation_p.E234Q|DIAPH1_ENST00000518047.1_Missense_Mutation_p.E279Q O60610 DIAP1_HUMAN diaphanous-related formin 1 288 GBD/FH3. regulation of microtubule-based process|sensory perception of sound cytoplasm|cytoskeleton|ruffle membrane actin binding|receptor binding|Rho GTPase binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2) 23 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCATCCATCTCAGCTCTTTCT 0.473000 5 226 0 0 1 0 0 AFF1 4299 broad.mit.edu 37 4 88035546 88035546 + Missense_Mutation SNP C C A TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr4:88035546C>A ENST00000307808.6 + 11 1960 c.1540C>A c.(1540-1542)Cag>Aag p.Q514K AFF1_ENST00000544085.1_Missense_Mutation_p.Q152K|AFF1_ENST00000395146.4_Missense_Mutation_p.Q521K NM_005935.2 NP_005926.1 P51825 AFF1_HUMAN AF4/FMR2 family, member 1 514 nucleus sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(2) 3 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) AAACAAATGGCAGCTGGACAA 0.512000 7 21 2.0095e-06 2.07039e-06 1 1 0 AKAP8 10270 broad.mit.edu 37 19 15472624 15472624 + Missense_Mutation SNP C C G TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr19:15472624C>G ENST00000269701.2 - 11 1372 c.1312G>C c.(1312-1314)Gta>Cta p.V438L NM_005858.3 NP_005849.1 O43823 AKAP8_HUMAN A kinase (PRKA) anchor protein 8 438 signal transduction nuclear matrix breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2) 26 TTTCTGTTTACAATGTATTCC 0.458000 3 31 0 0 1 0 0 CASKIN2 57513 broad.mit.edu 37 17 73502705 73502705 + Silent SNP G G T TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr17:73502705G>T ENST00000321617.3 - 7 1162 c.576C>A c.(574-576)ccC>ccA p.P192P CASKIN2_ENST00000581870.1_Silent_p.P192P|CASKIN2_ENST00000433559.2_Silent_p.P110P NM_020753.3 NP_065804.2 Q8WXE0 CSKI2_HUMAN CASK interacting protein 2 192 cytoplasm endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) CCAAGTGCAGGGGCGTGGTGT 0.622000 5 150 0.000602214 0.000611203 1 1 0 VHL 7428 broad.mit.edu 37 3 10191622 10191622 + Silent SNP C C T TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr3:10191622C>T ENST00000256474.2 + 3 1455 c.615C>T c.(613-615)cgC>cgT p.R205R VHL_ENST00000345392.2_Silent_p.R164R|VHL_ENST00000477538.1_3'UTR NM_000551.3 NP_000542.1 P40337 VHL_HUMAN von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase 205 anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus protein binding|transcription factor binding p.I206fs*10(2) adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3) 1769 Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569) CACAGGAGCGCATTGCACATC 0.468000 1 """D, Mis, N, F, S""" """renal, hemangioma, pheochromocytoma""" """renal, hemangioma, pheochromocytoma""" von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia 13 16 0 0 1 0 0 LAMC1 3915 broad.mit.edu 37 1 183086809 183086809 + Missense_Mutation SNP G G A TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr1:183086809G>A ENST00000258341.4 + 10 2085 c.1828G>A c.(1828-1830)Gct>Act p.A610T NM_002293.3 NP_002284.3 P11047 LAMC1_HUMAN laminin, gamma 1 (formerly LAMB2) 610 Laminin IV type A. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 76 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACCCTTGATCGCTCAGGGCAA 0.483000 4 77 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578203 7578203 + Missense_Mutation SNP C C A TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr17:7578203C>A ENST00000420246.2 - 6 778 c.646G>T c.(646-648)Gtg>Ttg p.V216L TP53_ENST00000269305.4_Missense_Mutation_p.V216L|TP53_ENST00000445888.2_Missense_Mutation_p.V216L|TP53_ENST00000359597.4_Missense_Mutation_p.V216L|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.V216L|TP53_ENST00000455263.2_Missense_Mutation_p.V216L NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 216 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). 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.V216M(61)|p.V216del(8)|p.0?(8)|p.V216L(7)|p.?(5)|p.V84M(3)|p.V123M(3)|p.V216fs*6(2)|p.H214fs*5(2)|p.V216fs*32(1)|p.V216fs*33(1)|p.S215fs*27(1)|p.S215fs*29(1)|p.V216fs*5(1)|p.V216_Y220delVVVPY(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.S215fs*31(1)|p.S215_V216insX(1)|p.T211fs*28(1)|p.D207_V216del10(1)|p.S215_V218>R(1)|p.S215_V218>M(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) GGCACCACCACACTATGTCGA 0.537000 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) 26 26 1.77063e-15 1.8813e-15 1 1 0 AMIGO1 57463 broad.mit.edu 37 1 110050585 110050585 + Missense_Mutation SNP G G C TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr1:110050585G>C ENST00000369864.4 - 2 1299 c.950C>G c.(949-951)aCa>aGa p.T317R AMIGO1_ENST00000369862.1_Missense_Mutation_p.T317R Q86WK6 AMGO1_HUMAN adhesion molecule with Ig-like domain 1 317 Ig-like C2-type. axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis axon|integral to membrane autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227) CACACTCACTGTGCCATTGGT 0.512000 7 158 0 0 1 0 0 ADARB2 105 broad.mit.edu 37 10 1779285 1779285 + Missense_Mutation SNP G G C TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr10:1779285G>C ENST00000381312.1 - 1 385 c.60C>G c.(58-60)tgC>tgG p.C20W NM_018702.3 NP_061172.1 Q9NS39 RED2_HUMAN adenosine deaminase, RNA-specific, B2 (non-functional) 20 mRNA processing mitochondrion|nucleus adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1) 41 all_epithelial(10;0.059)|Colorectal(49;0.0815) all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165) TCTTGGACTTGCATTTGAGTT 0.701000 44 231 0 0 1 0 0 UBB 7314 broad.mit.edu 37 17 16285491 16285491 + Silent SNP C C T rs16962973 TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr17:16285491C>T ENST00000302182.3 + 2 662 c.270C>T c.(268-270)acC>acT p.T90T UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Intron|UBB_ENST00000395839.1_Silent_p.T90T|UBB_ENST00000395837.1_Silent_p.T90T|RP11-138I1.4_ENST00000583934.1_RNA NM_018955.2 NP_061828.1 P0CG47 UBB_HUMAN ubiquitin B 90 Ubiquitin-like 2. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822) AGACCATCACCCTGGAAGTGG 0.552000 4 99 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578265 7578265 + Missense_Mutation SNP A A T TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr17:7578265A>T ENST00000420246.2 - 6 716 c.584T>A c.(583-585)aTc>aAc p.I195N TP53_ENST00000269305.4_Missense_Mutation_p.I195N|TP53_ENST00000445888.2_Missense_Mutation_p.I195N|TP53_ENST00000359597.4_Missense_Mutation_p.I195N|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.I195N|TP53_ENST00000455263.2_Missense_Mutation_p.I195N NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 195 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). 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.I195T(69)|p.I195N(12)|p.I195S(10)|p.0?(8)|p.I195fs*14(5)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102S(2)|p.I102T(2)|p.I63T(2)|p.I63S(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195fs*12(1)|p.I195fs*50(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I63fs*14(1)|p.H193_I195>AP(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) TTCCACTCGGATAAGATGCTG 0.552000 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) 27 42 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21228306 21228306 + Missense_Mutation SNP C C G TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr2:21228306C>G ENST00000233242.1 - 26 11561 c.11434G>C c.(11434-11436)Gag>Cag p.E3812Q NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3812 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) ACGGTTATCTCAAAAAAGGGA 0.423000 59 72 0 0 1 0 0 ADCK4 79934 broad.mit.edu 37 19 41197999 41197999 + Missense_Mutation SNP C C G TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr19:41197999C>G ENST00000324464.3 - 15 1877 c.1576G>C c.(1576-1578)Gac>Cac p.D526H ADCK4_ENST00000450541.1_Missense_Mutation_p.D485H|ADCK4_ENST00000243583.6_Missense_Mutation_p.D485H NM_024876.3 NP_079152.3 Q96D53 ADCK4_HUMAN aarF domain containing kinase 4 526 integral to membrane protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1) 17 Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219) GTGGCTGCGTCTGGCTGGCGA 0.672000 13 18 0 0 1 0 0 LINS 55180 broad.mit.edu 37 15 101109585 101109585 + Missense_Mutation SNP C C G rs148450316 TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr15:101109585C>G ENST00000314742.8 - 7 2354 c.2132G>C c.(2131-2133)aGa>aCa p.R711T NM_001040616.2 NP_001035706.1 Q8NG48 LINES_HUMAN lines homolog (Drosophila) 711 central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4) 21 TTTTACTATTCTGTAAAATAT 0.383000 6 80 0 0 1 0 0 MED23 9439 broad.mit.edu 37 6 131929091 131929091 + Missense_Mutation SNP C C T TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr6:131929091C>T ENST00000403834.3 - 12 1389 c.1216G>A c.(1216-1218)Gac>Aac p.D406N MED23_ENST00000354577.4_Missense_Mutation_p.D406N|MED23_ENST00000368053.4_Missense_Mutation_p.D406N|MED23_ENST00000545957.1_Intron|MED23_ENST00000368058.1_Missense_Mutation_p.D406N|MED23_ENST00000540546.1_Missense_Mutation_p.D406N|MED23_ENST00000539158.1_Missense_Mutation_p.D400N|MED23_ENST00000368060.3_Missense_Mutation_p.D400N|MED23_ENST00000368068.3_Missense_Mutation_p.D400N Q9ULK4 MED23_HUMAN mediator complex subunit 23 400 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 44 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) TATAGCAAGTCGAAGAGCTTC 0.343000 16 21 0 0 1 0 0 TNFSF15 9966 broad.mit.edu 37 9 117568099 117568099 + Missense_Mutation SNP G G A TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr9:117568099G>A ENST00000374045.4 - 1 307 c.194C>T c.(193-195)gCc>gTc p.A65V NM_001204344.1|NM_005118.3 NP_001191273.1|NP_005109.2 O95150 TNF15_HUMAN tumor necrosis factor (ligand) superfamily, member 15 65 activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response extracellular space|integral to plasma membrane cytokine activity|tumor necrosis factor receptor binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1) 11 CTGCACACAGGCCTCTCCCTG 0.602000 14 64 0 0 1 0 0 CASKIN2 57513 broad.mit.edu 37 17 73502707 73502707 + Missense_Mutation SNP G G C TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr17:73502707G>C ENST00000321617.3 - 7 1160 c.574C>G c.(574-576)Ccc>Gcc p.P192A CASKIN2_ENST00000581870.1_Missense_Mutation_p.P192A|CASKIN2_ENST00000433559.2_Missense_Mutation_p.P110A NM_020753.3 NP_065804.2 Q8WXE0 CSKI2_HUMAN CASK interacting protein 2 192 cytoplasm endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) AAGTGCAGGGGCGTGGTGTAG 0.622000 5 151 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113139603 113139603 + Silent SNP G G C TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr9:113139603G>C ENST00000401783.2 - 45 10788 c.10452C>G c.(10450-10452)cgC>cgG p.R3484R SVEP1_ENST00000297826.5_Silent_p.R1410R|SVEP1_ENST00000374469.1_Silent_p.R3461R NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 3484 cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 AAGCATTTGGGCGTTGGCAGA 0.502000 25 55 0 0 1 0 0 BCL9 607 broad.mit.edu 37 1 147090673 147090673 + Frame_Shift_Del DEL C C - TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr1:147090673delC ENST00000234739.3 + 8 1452 c.712delC c.(712-714)ccfs p.P239fs NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 239 Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) CCCACAACAGCCCCCAGCTCC 0.517 T """IGH@, IGL@""" B-ALL 8 469 --- --- --- --- YEATS2 55689 broad.mit.edu 37 3 183493803 183493805 + In_Frame_Del DEL AGG AGG - TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr3:183493803_183493805delAGG ENST00000305135.5 + 18 2664_2666 c.2469_2471delAGG c.(2467-2472)aca>ac p.TG823del NM_018023.4 NP_060493.3 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 823 Gly-rich. histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) gcggcagcacaggaggaggagga 0.601 7 48 --- --- --- --- CRIPAK 285464 broad.mit.edu 37 4 1388622 1388623 + Frame_Shift_Ins INS - - CA rs79704405 byFrequency TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr4:1388622_1388623insCA ENST00000324803.4 + 1 3283_3284 c.323_324insCA c.(322-324)cacfs p.H108fs NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 108 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding p.L108H(1) NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) GCCCGCCTGCTCACGTGCCCAT 0.668 9 1059 --- --- --- --- LINC00499 0 broad.mit.edu 37 4 139233976 139233978 + RNA DEL CTC CTC - TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr4:139233976_139233978delCTC ENST00000510736.1 + 0 106 ctgcccctttctcctcctcctcc 0.498 2 4 --- --- --- --- TIMD4 91937 broad.mit.edu 37 5 156378745 156378747 + In_Frame_Del DEL TTG TTG - TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr5:156378745_156378747delTTG ENST00000274532.2 - 3 511_513 c.455_457delCAA c.(454-459)agc>a p.TS152del TIMD4_ENST00000407087.3_In_Frame_Del_p.TS152del NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 152 Thr-rich. integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTGGTGGGGCTTGTTGTTGTTGT 0.537 7 477 --- --- --- --- IRF2BPL 64207 broad.mit.edu 37 14 77493762 77493767 + In_Frame_Del DEL TGCTGC TGCTGC - TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr14:77493762_77493767delTGCTGC ENST00000238647.3 - 1 1267_1272 c.369_374delGCAGCA c.(367-375)caa>ca p.QQQ123del NM_024496.3 NP_078772.1 Q9H1B7 I2BPL_HUMAN interferon regulatory factor 2 binding protein-like 123 Poly-Gln. nucleus endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 11 GAgctgttgttgctgctgctgctgct 0.714 5 3 --- --- --- --- NOB1 28987 broad.mit.edu 37 16 69782978 69782980 + In_Frame_Del DEL TCC TCC - TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr16:69782978_69782980delTCC ENST00000268802.5 - 6 596_598 c.567_569delGGA c.(565-570)gaa>ga p.EE189del NM_014062.1 NP_054781.1 Q9ULX3 NOB1_HUMAN NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) 189 Poly-Glu. nucleus metal ion binding|protein binding breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 CCCGTTTTCTTCCTCCTCCTCCT 0.522 10 148 --- --- --- --- TFPT 29844 broad.mit.edu 37 19 54611378 54611379 + Frame_Shift_Ins INS - - CCATC TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr19:54611378_54611379insCCATC ENST00000391759.1 - 5 1001_1002 c.596_597insGATGG c.(595-597)gcgfs p.A199fs NDUFA3_ENST00000391764.3_Intron|TFPT_ENST00000391758.1_Frame_Shift_Ins_p.A190fs|TFPT_ENST00000391757.1_Frame_Shift_Ins_p.R187fs NM_013342.3 NP_037474.1 P0C1Z6 TFPT_HUMAN TCF3 (E2A) fusion partner (in childhood Leukemia) 199 apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|Ino80 complex DNA binding|protein binding large_intestine(2)|lung(2) 4 all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19) CTGCTCGGCGTCCATCCCGTGG 0.713 T TCF3 pre-B ALL 30 153 --- --- --- --- GFRA4 64096 broad.mit.edu 37 20 3644008 3644010 + In_Frame_Del DEL CAG CAG - TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chr20:3644008_3644010delCAG ENST00000290417.2 - 1 36_38 c.37_39delCTG c.(37-39)del p.L15del GFRA4_ENST00000319242.3_In_Frame_Del_p.L15del NM_022139.3|NM_145762.2 NP_071422.1|NP_665705.1 Q9GZZ7 GFRA4_HUMAN GDNF family receptor alpha 4 15 anchored to membrane|extracellular region|plasma membrane receptor activity large_intestine(1)|lung(2) 3 CACCCAGTAACAGCAGCAGCAGC 0.621 7 37 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76939914 76939915 + Frame_Shift_Del DEL AG AG - TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chrX:76939914_76939915delAG ENST00000373344.5 - 9 1047_1048 c.833_834delCT c.(832-834)afs p.T278fs ATRX_ENST00000395603.3_Frame_Shift_Del_p.T240fs|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 278 ADD. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TGTTACATGCAGTGACCAAGTC 0.371 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 70 21 --- --- --- --- PLXNA3 55558 broad.mit.edu 37 X 153688564 153688565 + Frame_Shift_Ins INS - - G TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae4ac656-6510-4297-9f72-ebccd48cf244 d9f613fd-47f3-4f89-a073-b75fad63df72 g.chrX:153688564_153688565insG ENST00000369682.3 + 2 216_217 c.41_42insG c.(40-42)gggfs p.G14fs NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 14 axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity p.A17fs*39(1) 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) TTCCTTGCCGTGGGGGGGGCCC 0.683 7 72 --- --- --- ---