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_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut TTLL10 254173 broad.mit.edu 37 1 1117129 1117129 + Missense_Mutation SNP A A T TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr1:1117129A>T uc001acy.2 + 9 915 c.764A>T c.(763-765)AAG>ATG p.K255M uc001acx.1_5'Flank|TTLL10_uc010nyg.1_Missense_Mutation_p.K255M|TTLL10_uc001acz.1_Missense_Mutation_p.K182M NM_001130045 NP_001123517 Q6ZVT0 TTL10_HUMAN tubulin tyrosine ligase-like family, member 10 255 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity large_intestine(1) 1 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) AGGCTGGAAAAGGACGCAGCA 0.672 NA 3 12 0 0 0 0 JAK1 3716 broad.mit.edu 37 1 65303626 65303627 + Missense_Mutation DNP GC GC AA TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr1:65303626_65303627GC>AA uc001dbu.1 - 22 3377_3378 c.3128_3129GC>TT c.(3127-3129)AGC>ATT p.S1043I JAK1_uc009wam.1_Missense_Mutation_p.S1031I|JAK1_uc009wal.1_Missense_Mutation_p.S220I NM_002227 NP_002218 P23458 JAK1_HUMAN janus kinase 1 1043 Protein kinase 2. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1) 61 BRCA - Breast invasive adenocarcinoma(111;0.0485) AAAACACAGGGCTGTCCCGGTC 0.401 NA Mis ALL 3 52 0 0 0 0 JAK1 3716 broad.mit.edu 37 1 65306941 65306941 + Missense_Mutation SNP C C T TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr1:65306941C>T uc001dbu.1 - 19 2885 c.2636G>A c.(2635-2637)CGT>CAT p.R879H JAK1_uc009wam.1_Missense_Mutation_p.R867H|JAK1_uc009wal.1_Missense_Mutation_p.R56H NM_002227 NP_002218 P23458 JAK1_HUMAN janus kinase 1 879 Protein kinase 2. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity p.R879S(1)|p.R879C(1)|p.R879H(1) haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1) 61 BRCA - Breast invasive adenocarcinoma(111;0.0485) TCCCAAGTCACGGATCCTCTT 0.493 NA Mis ALL 9 70 0 0 0 0 MSH4 4438 broad.mit.edu 37 1 76365359 76365359 + Missense_Mutation SNP G G A TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr1:76365359G>A uc001dhd.1 + 19 2628 c.2587G>A c.(2587-2589)GAA>AAA p.E863K NM_002440 NP_002431 O15457 MSH4_HUMAN mutS homolog 4 863 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding lung(3)|ovary(2) 5 GGATGCCAAGGAAATCACAAC 0.294 NA MMR 8 66 0 0 0 0 MTMR11 10903 broad.mit.edu 37 1 149905361 149905361 + Missense_Mutation SNP T T C TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr1:149905361T>C uc001etl.3 - 10 1174 c.923A>G c.(922-924)GAG>GGG p.E308G MTMR11_uc001etm.1_Missense_Mutation_p.E236G|MTMR11_uc010pbm.1_Missense_Mutation_p.E280G|MTMR11_uc010pbn.1_Missense_Mutation_p.E150G NM_001145862 NP_001139334 A4FU01 MTMRB_HUMAN myotubularin related protein 11 isoform a 308 Myotubularin phosphatase. phosphatase activity central_nervous_system(1) 1 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) GCTGGGCAGCTCATCCATAGT 0.567 NA 3 79 0 0 0 0 ANP32E 81611 broad.mit.edu 37 1 150202922 150202922 + Missense_Mutation SNP C C G TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr1:150202922C>G uc001etw.2 - 3 681 c.311G>C c.(310-312)AGT>ACT p.S104T ANP32E_uc010pbu.1_Missense_Mutation_p.S56T|ANP32E_uc010pbv.1_Intron|ANP32E_uc001etv.3_Missense_Mutation_p.S104T|ANP32E_uc010pbw.1_Missense_Mutation_p.S104T NM_030920 NP_112182 Q9BTT0 AN32E_HUMAN acidic (leucine-rich) nuclear phosphoprotein 32 104 LRR 4. cytoplasmic membrane-bounded vesicle|nucleus phosphatase inhibitor activity 0 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) TTCTACTGTACTGAGATCTTT 0.343 NA 7 57 0 0 0 0 LRP5 4041 broad.mit.edu 37 11 68133078 68133078 + Missense_Mutation SNP A A C TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr11:68133078A>C uc001ont.2 + 5 998 c.923A>C c.(922-924)CAC>CCC p.H308P LRP5_uc009ysg.2_5'UTR NM_002335 NP_002326 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 308 EGF-like 1.|Extracellular (Potential). adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1) 7 GGCTGCTCCCACCTGTGCCTG 0.587 NA 8 104 0 0 0 0 CD163 9332 broad.mit.edu 37 12 7636017 7636017 + Missense_Mutation SNP G G A TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr12:7636017G>A uc001qsz.3 - 12 3162 c.3034C>T c.(3034-3036)CGC>TGC p.R1012C CD163_uc001qta.3_Missense_Mutation_p.R1012C|CD163_uc009zfw.2_Missense_Mutation_p.R1045C NM_004244 NP_004235 Q86VB7 C163A_HUMAN CD163 antigen isoform a 1012 SRCR 9.|Extracellular (Potential). acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity ovary(6)|pancreas(1)|skin(1) 8 TGGCCCCAGCGTCTGGCAGGA 0.512 NA 7 50 0 0 0 0 KRT78 196374 broad.mit.edu 37 12 53233611 53233611 + Missense_Mutation SNP G G A TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr12:53233611G>A uc001sbc.1 - 7 1269 c.1205C>T c.(1204-1206)ACG>ATG p.T402M NM_173352 NP_775487 Q8N1N4 K2C78_HUMAN keratin 5b 402 Coil 2.|Rod. keratin filament protein binding|structural molecule activity ovary(2) 2 GGAAAGCTTCGTGCTCGTCAG 0.612 NA 9 59 0 0 0 0 CSNK1A1L 122011 broad.mit.edu 37 13 37679304 37679304 + Silent SNP G G A TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr13:37679304G>A uc001uwm.1 - 1 498 c.90C>T c.(88-90)GAC>GAT p.D30D NM_145203 NP_660204 Q8N752 KC1AL_HUMAN casein kinase 1, alpha 1-like 30 ATP (By similarity).|Protein kinase. Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity large_intestine(1) 1 Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109) all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407) CCAGATAAACGTCTCCAAAGG 0.537 NA 7 122 0 0 0 0 FARP1 10160 broad.mit.edu 37 13 99042297 99042297 + Silent SNP C C A TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr13:99042297C>A uc001vnj.2 + 10 1278 c.942C>A c.(940-942)GCC>GCA p.A314A FARP1_uc001vnh.2_Silent_p.A314A NM_005766 NP_005757 Q9Y4F1 FARP1_HUMAN FERM, RhoGEF, and pleckstrin domain protein 1 314 FERM. regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(2) 2 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) AACATCATGCCTTCTTTAGAC 0.488 NA 7 155 2.01e-06 2.31e-06 1 0 RASA3 22821 broad.mit.edu 37 13 114751137 114751137 + Missense_Mutation SNP T T C TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr13:114751137T>C uc001vui.2 - 23 2509 c.2378A>G c.(2377-2379)GAG>GGG p.E793G RASA3_uc010tkk.1_Missense_Mutation_p.E761G|RASA3_uc001vuj.2_Missense_Mutation_p.E410G NM_007368 NP_031394 Q14644 RASA3_HUMAN RAS p21 protein activator 3 793 intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane calcium-release channel activity|metal ion binding|Ras GTPase activator activity lung(3)|skin(1) 4 Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188) BRCA - Breast invasive adenocarcinoma(86;0.128) CTGGGCGTGCTCCTGCTCCAA 0.582 NA 15 183 0 0 0 0 MAP3K9 4293 broad.mit.edu 37 14 71205084 71205084 + Silent SNP G G A TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr14:71205084G>A uc001xmm.2 - 8 1722 c.1722C>T c.(1720-1722)GGC>GGT p.G574G MAP3K9_uc010ttk.1_Silent_p.G311G|MAP3K9_uc001xmk.2_Silent_p.G316G|MAP3K9_uc001xml.2_Silent_p.G574G NM_033141 NP_149132 P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 574 activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity stomach(2)|lung(1)|central_nervous_system(1)|skin(1) 5 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) CTGAGCTCCTGCCccaggttt 0.328 NA 11 77 0 0 0 0 C14orf179 112752 broad.mit.edu 37 14 76525675 76525675 + Missense_Mutation SNP G G A rs2302858 by1000genomes TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr14:76525675G>A uc010asm.1 + 5 288 c.254G>A c.(253-255)CGC>CAC p.R85H C14orf179_uc001xsf.2_RNA|C14orf179_uc010asl.1_Missense_Mutation_p.R85H|C14orf179_uc001xsg.2_Intron|C14orf179_uc010tve.1_RNA NM_001102564 NP_001096034 Q96FT9 IFT43_HUMAN hypothetical protein LOC112752 isoform 2 85 cilium morphogenesis|intraflagellar retrograde transport 0 BRCA - Breast invasive adenocarcinoma(234;0.0199) GGCAGTTTCCGCCTCAGACCA 0.448 NA 7 85 0 0 0 0 ATP8B4 79895 broad.mit.edu 37 15 50215663 50215663 + Silent SNP A A C TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr15:50215663A>C uc001zxu.2 - 17 1813 c.1671T>G c.(1669-1671)CTT>CTG p.L557L ATP8B4_uc010ber.2_Silent_p.L430L|ATP8B4_uc010ufd.1_Silent_p.L367L|ATP8B4_uc010ufe.1_RNA NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN ATPase class I type 8B member 4 557 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity skin(3)|ovary(2)|breast(2)|large_intestine(1) 8 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) CTTTGGAATAAAGCTTTATCT 0.383 NA 4 40 0 0 0 0 RFX7 64864 broad.mit.edu 37 15 56393703 56393703 + Missense_Mutation SNP G G T TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr15:56393703G>T uc010bfn.2 - 7 665 c.665C>A c.(664-666)GCT>GAT p.A222D RFX7_uc010ugk.1_RNA|RFX7_uc002adn.1_Missense_Mutation_p.A36D NM_022841 NP_073752 Q2KHR2 RFX7_HUMAN regulatory factor X domain containing 2 125 regulation of transcription, DNA-dependent nucleus DNA binding 0 AAGACGGCAAGCAGAAGAGAT 0.423 NA 8 47 4.19e-16 4.91e-16 1 0 RAB11FIP3 9727 broad.mit.edu 37 16 546835 546835 + Missense_Mutation SNP G G A TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr16:546835G>A uc002chf.2 + 6 1616 c.1277G>A c.(1276-1278)CGG>CAG p.R426Q RAB11FIP3_uc010uuf.1_Missense_Mutation_p.R130Q|RAB11FIP3_uc010uug.1_Missense_Mutation_p.R161Q NM_014700 NP_055515 O75154 RFIP3_HUMAN rab11-family interacting protein 3 isoform 1 426 cell cycle|cytokinesis|endocytic recycling|protein transport centrosome|cleavage furrow|midbody|recycling endosome membrane ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding 0 Hepatocellular(16;0.0218) CCGACAAAGCGGCTCTCCAGC 0.423 NA 13 92 0 0 0 0 MAPK8IP3 23162 broad.mit.edu 37 16 1815178 1815178 + Silent SNP C C T TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr16:1815178C>T uc002cmk.2 + 20 2562 c.2442C>T c.(2440-2442)CCC>CCT p.P814P MAPK8IP3_uc002cml.2_Silent_p.P808P|MAPK8IP3_uc010uvl.1_Silent_p.P815P NM_015133 NP_055948 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting 814 vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding breast(2)|central_nervous_system(1) 3 CCAGCATCCCCGGTGAGCAGC 0.617 NA 3 18 0 0 0 0 MYH11 4629 broad.mit.edu 37 16 15841500 15841500 + Missense_Mutation SNP C C T TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr16:15841500C>T uc002ddy.2 - 19 2445 c.2338G>A c.(2338-2340)GAG>AAG p.E780K MYH11_uc002ddv.2_Missense_Mutation_p.E787K|MYH11_uc002ddw.2_Missense_Mutation_p.E780K|MYH11_uc002ddx.2_Missense_Mutation_p.E787K|MYH11_uc010bvg.2_Missense_Mutation_p.E612K NM_002474 NP_002465 P35749 MYH11_HUMAN smooth muscle myosin heavy chain 11 isoform 780 Myosin head-like. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1) 15 TCTCGCTCCTCCTCTAGGTGG 0.498 NA T CBFB AML 13 86 0 0 0 0 HS3ST4 9951 broad.mit.edu 37 16 26147117 26147117 + Missense_Mutation SNP G G A TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr16:26147117G>A uc002dof.2 + 2 1311 c.919G>A c.(919-921)GAG>AAG p.E307K NM_006040 NP_006031 Q9Y661 HS3S4_HUMAN heparan sulfate D-glucosaminyl 307 Lumenal (Potential). heparan sulfate proteoglycan metabolic process extracellular region|Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity large_intestine(1)|breast(1) 2 GBM - Glioblastoma multiforme(48;0.0988) AAAGAAACCCGAGATCCCCAC 0.537 NA 21 165 0 0 0 0 KIAA0895L 653319 broad.mit.edu 37 16 67213451 67213451 + Silent SNP C C G TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr16:67213451C>G uc002ert.2 - 4 1504 c.729G>C c.(727-729)CTG>CTC p.L243L KIAA0895L_uc002err.2_5'Flank|KIAA0895L_uc002ers.2_5'UTR|KIAA0895L_uc002eru.2_Silent_p.L243L|EXOC3L_uc002erv.1_RNA NM_001040715 NP_001035805 Q68EN5 K895L_HUMAN hypothetical protein LOC653319 243 0 GGTCCTCACTCAGCTGCACCA 0.647 NA 4 40 0 0 0 0 PELP1 27043 broad.mit.edu 37 17 4575883 4575883 + Silent SNP T T G TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr17:4575883T>G uc002fyi.3 - 16 2629 c.2403A>C c.(2401-2403)CCA>CCC p.P801P PELP1_uc010vsf.1_Silent_p.P654P NM_014389 NP_055204 Q8IZL8 PELP1_HUMAN proline, glutamic acid and leucine rich protein 801 Pro-rich. transcription, DNA-dependent cytoplasm|MLL1 complex protein binding ovary(1)|central_nervous_system(1) 2 CTGAGGGTGGTGGGGGTGGCA 0.622 NA 4 27 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7577120 7577120 + Missense_Mutation SNP C C T rs28934576 by1000genomes TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr17:7577120C>T uc002gim.2 - 8 1012 c.818G>A c.(817-819)CGT>CAT p.R273H TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R273H(469)|p.R273C(394)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 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) GGCACAAACACGCACCTCAAA 0.542 R273H(NCIH1793_LUNG)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PANC1_PANCREAS)|R273H(NCIH508_LARGE_INTESTINE)|R273H(NCIH1975_LUNG)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(NCIH2405_LUNG)|R273H(HEC59_ENDOMETRIUM)|R273H(NCIH1155_LUNG)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(EN_ENDOMETRIUM)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(MDAMB468_BREAST)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW620_LARGE_INTESTINE)|R273H(SUIT2_PANCREAS)|R273H(SW480_LARGE_INTESTINE)|R273H(SKMEL30_SKIN)|R273H(OC314_OVARY)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE) 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 Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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) 6 22 0 0 0 0 KRTAP4-1 85285 broad.mit.edu 37 17 39340710 39340710 + Missense_Mutation SNP G G A TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr17:39340710G>A uc002hwe.3 - 2 381 c.340C>T c.(340-342)CGT>TGT p.R114C NM_033060 NP_149049 Q9BYQ7 KRA41_HUMAN keratin associated protein 4-1 133 16.|18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL]. keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) CAAGTTGCACGGCAGCAGGTG 0.577 NA 6 126 0 0 0 0 WFIKKN2 124857 broad.mit.edu 37 17 48917985 48917985 + Missense_Mutation SNP C C T TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr17:48917985C>T uc002isv.3 + 2 2030 c.1336C>T c.(1336-1338)CGG>TGG p.R446W WFIKKN2_uc010dbu.2_Missense_Mutation_p.R353W NM_175575 NP_783165 Q8TEU8 WFKN2_HUMAN WFIKKN2 protein 446 NTR. extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) CCAGCGCTGTCGGGCCTGCAA 0.622 NA 8 55 0 0 0 0 GDPD1 284161 broad.mit.edu 37 17 57298028 57298028 + Missense_Mutation SNP T T C TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr17:57298028T>C uc002ixk.1 + 1 195 c.58T>C c.(58-60)TCA>CCA p.S20P GDPD1_uc002ixj.2_Missense_Mutation_p.S20P NM_182569 NP_872375 Q8N9F7 GDPD1_HUMAN glycerophosphodiester phosphodiesterase domain 20 Helical; (Potential). glycerol metabolic process|lipid metabolic process cytoplasm|integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding 0 all_neural(34;0.0837)|Medulloblastoma(34;0.0922) CTTGGTGACCTCATTCTTGTT 0.542 NA OREG0024617 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 137 0 0 0 0 LRRC37A3 374819 broad.mit.edu 37 17 62857035 62857035 + Missense_Mutation SNP G G A TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr17:62857035G>A uc002jey.2 - 11 3760 c.3229C>T c.(3229-3231)CGG>TGG p.R1077W LRRC37A3_uc010wqg.1_Missense_Mutation_p.R195W|LRRC37A3_uc002jex.1_Missense_Mutation_p.R54W|LRRC37A3_uc010wqf.1_Missense_Mutation_p.R115W|LRRC37A3_uc010dek.1_Missense_Mutation_p.R83W NM_199340 NP_955372 O60309 L37A3_HUMAN leucine rich repeat containing 37, member A3 1077 Extracellular (Potential). integral to membrane 0 TAATTCTTCCGGGCTTGTAAC 0.483 NA 24 269 0 0 0 0 ARHGEF18 23370 broad.mit.edu 37 19 7531842 7531842 + Silent SNP C C T TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr19:7531842C>T uc002mgi.2 + 14 2632 c.2379C>T c.(2377-2379)CCC>CCT p.P793P ARHGEF18_uc010xjm.1_Silent_p.P635P|ARHGEF18_uc002mgh.2_Silent_p.P635P|ARHGEF18_uc002mgj.1_Silent_p.P436P NM_001130955 NP_001124427 Q6ZSZ5 ARHGI_HUMAN Rho/Rac guanine nucleotide exchange factor 18 793 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity ovary(1) 1 Renal(5;0.0902) CCCGTCTGCCCACCGTCCTGG 0.637 NA 11 68 0 0 0 0 CD97 976 broad.mit.edu 37 19 14508888 14508888 + Silent SNP C C T TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr19:14508888C>T uc002myl.2 + 9 957 c.834C>T c.(832-834)TTC>TTT p.F278F CD97_uc002mym.2_Silent_p.F229F|CD97_uc002myn.2_Silent_p.F185F NM_078481 NP_510966 P48960 CD97_HUMAN CD97 antigen isoform 1 precursor 278 Extracellular (Potential). cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway extracellular space|integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(3)|breast(1) 4 TTTCCCGATTCTTCGACAAAG 0.587 NA 5 74 0 0 0 0 USHBP1 83878 broad.mit.edu 37 19 17373676 17373676 + Silent SNP C C T TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr19:17373676C>T uc002nfs.1 - 4 440 c.327G>A c.(325-327)GTG>GTA p.V109V USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Silent_p.V45V|USHBP1_uc010eam.1_Silent_p.V37V NM_031941 NP_114147 Q8N6Y0 USBP1_HUMAN Usher syndrome 1C binding protein 1 109 PDZ domain binding ovary(1) 1 TCCCAGGGGGCACAGTCTCCT 0.667 NA 14 102 0 0 0 0 LYPD3 27076 broad.mit.edu 37 19 43965777 43965777 + Missense_Mutation SNP G G A TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr19:43965777G>A uc002owl.1 - 5 875 c.767C>T c.(766-768)ACC>ATC p.T256I LYPD3_uc002owm.2_3'UTR NM_014400 NP_055215 O95274 LYPD3_HUMAN GPI-anchored metastasis-associated protein 256 anchored to plasma membrane pancreas(1) 1 Prostate(69;0.0153) GGTAGAAGTGGTGACAGATGT 0.612 NA 20 118 0 0 0 0 CACNG7 59284 broad.mit.edu 37 19 54418666 54418666 + Missense_Mutation SNP G G A TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr19:54418666G>A uc002qcr.1 + 3 346 c.331G>A c.(331-333)GTG>ATG p.V111M CACNG7_uc010era.1_Missense_Mutation_p.V111M NM_031896 NP_114102 P62955 CCG7_HUMAN voltage-dependent calcium channel gamma-7 111 Helical; (Potential). regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(1) 1 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0711) CCTCTTCCTCGTGTTCACGGC 0.607 NA 9 49 0 0 0 0 NLRP8 126205 broad.mit.edu 37 19 56466997 56466997 + Nonsense_Mutation SNP C C T TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr19:56466997C>T uc002qmh.2 + 3 1644 c.1573C>T c.(1573-1575)CAA>TAA p.Q525* NLRP8_uc010etg.2_Nonsense_Mutation_p.Q525* NM_176811 NP_789781 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 525 NACHT. cytoplasm ATP binding ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1) 13 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) CTGTTTCCCACAAAGACTCAA 0.433 NA 8 171 0 0 0 0 DDX1 1653 broad.mit.edu 37 2 15770222 15770222 + Missense_Mutation SNP A A G TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr2:15770222A>G uc002rce.2 + 25 2368 c.2080A>G c.(2080-2082)AGG>GGG p.R694G NM_004939 NP_004930 Q92499 DDX1_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 1 694 Necessary for interaction with HNRNPK. DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent cleavage body|stress granule|tRNA-splicing ligase complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694) GBM - Glioblastoma multiforme(3;0.00969) Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133) CGGTCAGAAAAGGGCTGCTGG 0.373 NA 3 118 0 0 0 0 APOB 338 broad.mit.edu 37 2 21233487 21233487 + Nonsense_Mutation SNP G G A rs121918386 TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr2:21233487G>A uc002red.2 - 26 6381 c.6253C>T c.(6253-6255)CGA>TGA p.R2085* NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 2085 Heparin-binding. 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 ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) ATGGTTTGTCGATTCCTCTCA 0.343 NA 6 57 0 0 0 0 TCF7L1 83439 broad.mit.edu 37 2 85536379 85536379 + Missense_Mutation SNP G G A TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr2:85536379G>A uc002soy.2 + 12 1635 c.1561G>A c.(1561-1563)GCC>ACC p.A521T NM_031283 NP_112573 Q9HCS4 TF7L1_HUMAN HMG-box transcription factor TCF-3 521 chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(1)|breast(1)|central_nervous_system(1) 3 CCACTCTGCCGCCTTCCTGTC 0.687 NA 6 26 0 0 0 0 STAT1 6772 broad.mit.edu 37 2 191843715 191843715 + Silent SNP G G A TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr2:191843715G>A uc002usj.2 - 21 2128 c.1740C>T c.(1738-1740)GGC>GGT p.G580G STAT1_uc010fse.1_Silent_p.G580G|STAT1_uc002usk.2_Silent_p.G580G|STAT1_uc002usl.2_Silent_p.G582G NM_007315 NP_009330 P42224 STAT1_HUMAN signal transducer and activator of transcription 580 SH2. activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein cytosol|nucleolus|nucleoplasm calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141) Fludarabine(DB01073) TGCTGATGAAGCCCATGATGC 0.522 NA 3 21 0 0 0 0 PGAP1 80055 broad.mit.edu 37 2 197763049 197763049 + Silent SNP G G A TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr2:197763049G>A uc002utw.2 - 6 966 c.852C>T c.(850-852)TCC>TCT p.S284S PGAP1_uc002utx.2_Silent_p.S110S|PGAP1_uc002uty.1_Silent_p.S284S|PGAP1_uc010zgv.1_RNA|PGAP1_uc010fsj.2_Silent_p.S110S NM_024989 NP_079265 Q75T13 PGAP1_HUMAN GPI deacylase 284 Lumenal (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport integral to membrane|intrinsic to endoplasmic reticulum membrane nuclease activity|phosphoric ester hydrolase activity ovary(3)|central_nervous_system(1) 4 ACCACACAATGGAGAGGTGGT 0.343 NA 11 67 0 0 0 0 C20orf54 113278 broad.mit.edu 37 20 746115 746115 + Missense_Mutation SNP C C T TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr20:746115C>T uc002wed.3 - 2 643 c.304G>A c.(304-306)GGC>AGC p.G102S C20orf54_uc002wee.2_Missense_Mutation_p.G102S NM_033409 NP_212134 Q9NQ40 RFT2_HUMAN hypothetical protein LOC113278 precursor 102 Helical; (Potential). sensory perception of sound integral to plasma membrane riboflavin transporter activity ovary(2) 2 CTGTGGTGGCCGTCCAGCACC 0.597 NA 3 10 0 0 0 0 ZNFX1 57169 broad.mit.edu 37 20 47863942 47863942 + Silent SNP C C T TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr20:47863942C>T uc002xui.2 - 14 5866 c.5619G>A c.(5617-5619)AAG>AAA p.K1873K NM_021035 NP_066363 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 1873 metal ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CAATCACTTCCTTACAGTCAG 0.527 NA 10 66 0 0 0 0 OLIG2 10215 broad.mit.edu 37 21 34399432 34399432 + Missense_Mutation SNP T T G TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr21:34399432T>G uc002yqx.1 + 2 420 c.262T>G c.(262-264)TCG>GCG p.S88A NM_005806 NP_005797 Q13516 OLIG2_HUMAN oligodendrocyte lineage transcription factor 2 88 Poly-Ser. cytoplasm|nucleus|plasma membrane DNA binding central_nervous_system(2) 2 GTCTACGTCGTCGGCGGCTGC 0.632 NA T TRA@ T-ALL 6 18 0 0 0 0 ZC3H7B 23264 broad.mit.edu 37 22 41752766 41752766 + Missense_Mutation SNP G G A TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr22:41752766G>A uc003azw.2 + 22 2851 c.2635G>A c.(2635-2637)GGC>AGC p.G879S ZC3H7B_uc010gyl.1_Intron NM_017590 NP_060060 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 895 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding central_nervous_system(1) 1 TGACGCCAGCGGCTGGGCCTT 0.647 NA 4 115 0 0 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr3:178936091G>A uc003fjk.2 + 10 1790 c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 PI3K helical. E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353 E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 10 57 0 0 0 0 C4orf37 285555 broad.mit.edu 37 4 98893492 98893492 + Missense_Mutation SNP G G A TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr4:98893492G>A uc003htt.1 - 7 962 c.872C>T c.(871-873)CCT>CTT p.P291L NM_174952 NP_777612 Q8N412 CD037_HUMAN hypothetical protein LOC285555 291 0 OV - Ovarian serous cystadenocarcinoma(123;2.27e-08) GAAAGTCCGAGGAACAGAAGA 0.358 NA 6 120 0 0 0 0 METTL14 57721 broad.mit.edu 37 4 119621745 119621745 + Missense_Mutation SNP C C T TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr4:119621745C>T uc003icf.2 + 8 802 c.686C>T c.(685-687)TCA>TTA p.S229L METTL14_uc003icg.2_Missense_Mutation_p.S191L NM_020961 NP_066012 Q9HCE5 MTL14_HUMAN methyltransferase like 14 229 nucleus mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity 0 GCACCTCGATCATTTATTTTT 0.338 NA 12 81 0 0 0 0 FAT4 79633 broad.mit.edu 37 4 126372350 126372350 + Silent SNP C C T TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr4:126372350C>T uc003ifj.3 + 9 10179 c.10179C>T c.(10177-10179)GTC>GTT p.V3393V FAT4_uc011cgp.1_Silent_p.V1691V|FAT4_uc003ifi.1_Silent_p.V871V NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 3393 Cadherin 32.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 CTGTAAATGTCACCGTGCTTG 0.428 NA 19 161 0 0 0 0 MAP9 79884 broad.mit.edu 37 4 156277012 156277012 + Silent SNP C C T TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr4:156277012C>T uc003ios.2 - 9 1410 c.1146G>A c.(1144-1146)AAG>AAA p.K382K MAP9_uc011cin.1_Silent_p.K357K|MAP9_uc010iqa.1_Intron|MAP9_uc003iot.1_Silent_p.K381K NM_001039580 NP_001034669 Q49MG5 MAP9_HUMAN aster-associated protein 382 cell division|mitosis cytoplasm|microtubule|spindle ovary(1)|central_nervous_system(1) 2 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.143) AACTAGATTTCTTCAAAAACT 0.348 NA 4 38 0 0 0 0 ASB5 140458 broad.mit.edu 37 4 177146412 177146412 + Splice_Site SNP C C T TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr4:177146412C>T uc003iuq.1 - 2 292 c.276_splice c.e2+1 p.Q92_splice ASB5_uc003iup.1_Splice_Site_p.Q39_splice NM_080874 NP_543150 Q8WWX0 ASB5_HUMAN ankyrin repeat and SOCS box-containing protein intracellular signal transduction skin(2) 2 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) TAATATATTACCTGTGATAAT 0.353 NA 5 47 0 0 0 0 C6 729 broad.mit.edu 37 5 41199881 41199881 + Missense_Mutation SNP C C T TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr5:41199881C>T uc003jmk.2 - 4 644 c.434G>A c.(433-435)CGC>CAC p.R145H C6_uc003jml.1_Missense_Mutation_p.R145H NM_000065 NP_000056 P13671 CO6_HUMAN complement component 6 precursor 145 LDL-receptor class A. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding ovary(3)|central_nervous_system(2)|skin(2) 7 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) ACTGTCACAGCGAAATTTATT 0.413 NA 15 105 0 0 0 0 CHD1 1105 broad.mit.edu 37 5 98218909 98218909 + Silent SNP T T C TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr5:98218909T>C uc003knf.2 - 18 2749 c.2601A>G c.(2599-2601)GGA>GGG p.G867G NM_001270 NP_001261 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 867 Helicase C-terminal. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding lung(2)|ovary(1)|breast(1)|pancreas(1) 5 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) TCCCTAGACCTCCAGCTCTTG 0.373 NA 3 43 0 0 0 0 TMED7-TICAM2 100302736 broad.mit.edu 37 5 114916440 114916440 + Missense_Mutation SNP G G A TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr5:114916440G>A uc003krd.2 - 4 1520 c.514C>T c.(514-516)CCC>TCC p.P172S TMED7-TICAM2_uc003kre.2_Missense_Mutation_p.P341S|TICAM2_uc003krc.2_Missense_Mutation_p.P172S NM_021649 NP_067681 Q86XR7 TCAM2_HUMAN toll-like receptor adaptor molecule 2 172 TIR. I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway Golgi apparatus|intrinsic to membrane|plasma membrane protein binding|transmembrane receptor activity 0 GGCCGCATGGGTATAACAGAG 0.443 NA 6 84 0 0 0 0 DIAPH1 1729 broad.mit.edu 37 5 140908785 140908785 + Missense_Mutation SNP T T C TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr5:140908785T>C uc003llb.3 - 22 2873 c.2732A>G c.(2731-2733)AAG>AGG p.K911R DIAPH1_uc011dbd.1_5'Flank|DIAPH1_uc003llc.3_Missense_Mutation_p.K902R|DIAPH1_uc010jgc.1_Missense_Mutation_p.K347R NM_005219 NP_005210 O60610 DIAP1_HUMAN diaphanous 1 isoform 1 911 FH2. regulation of microtubule-based process|sensory perception of sound cytoplasm|cytoskeleton|ruffle membrane actin binding|receptor binding|Rho GTPase binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATATTCATCCTTCAGTTCAGA 0.498 NA 9 73 0 0 0 0 N4BP3 23138 broad.mit.edu 37 5 177548577 177548577 + Nonsense_Mutation SNP C C T TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr5:177548577C>T uc003mik.1 + 5 1457 c.1210C>T c.(1210-1212)CAA>TAA p.Q404* N4BP3_uc003mil.1_Nonsense_Mutation_p.Q73* NM_015111 NP_055926 O15049 N4BP3_HUMAN Nedd4 binding protein 3 404 Potential. cytoplasmic vesicle membrane 0 all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCTGAAGACACAACTTCGGGG 0.647 NA 13 85 0 0 0 0 MEP1A 4224 broad.mit.edu 37 6 46787388 46787388 + Nonsense_Mutation SNP C C G TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr6:46787388C>G uc010jzh.1 + 7 545 c.503C>G c.(502-504)TCA>TGA p.S168* MEP1A_uc011dwg.1_5'UTR|MEP1A_uc011dwh.1_Nonsense_Mutation_p.S196*|MEP1A_uc011dwi.1_Nonsense_Mutation_p.S68* NM_005588 NP_005579 Q16819 MEP1A_HUMAN meprin A alpha precursor 168 Extracellular (Potential).|Metalloprotease. digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding pancreas(2)|ovary(1) 3 Lung(136;0.192) CACGAGCAGTCAAGGACGGAC 0.478 NA 5 227 0 0 0 0 PION 54103 broad.mit.edu 37 7 77006706 77006706 + Missense_Mutation SNP A A C TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr7:77006706A>C uc003ugf.2 - 9 657 c.578T>G c.(577-579)GTG>GGG p.V193G PION_uc003ugg.1_5'UTR NM_017439 NP_059135 A4D1B5 GSAP_HUMAN pigeon homolog 193 beta-amyloid formation|regulation of proteolysis trans-Golgi network beta-amyloid binding central_nervous_system(1) 1 ATTTTTAATCACCTAAAAATG 0.308 NA 9 64 0 0 0 0 SH2D4A 63898 broad.mit.edu 37 8 19190591 19190591 + Missense_Mutation SNP C C T TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr8:19190591C>T uc003wzb.2 + 3 643 c.307C>T c.(307-309)CGG>TGG p.R103W SH2D4A_uc011kym.1_Missense_Mutation_p.R58W|SH2D4A_uc003wzc.2_Missense_Mutation_p.R103W NM_022071 NP_071354 Q9H788 SH24A_HUMAN SH2 domain containing 4A 103 cytoplasm|nucleus protein binding 0 Colorectal(111;0.0732) TGAGAGGGCCCGGCTGAAAGC 0.463 NA 8 68 0 0 0 0 CSMD3 114788 broad.mit.edu 37 8 113241099 113241099 + Nonsense_Mutation SNP G G T TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr8:113241099G>T uc003ynu.2 - 70 11009 c.10850C>A c.(10849-10851)TCA>TAA p.S3617* CSMD3_uc003yns.2_Nonsense_Mutation_p.S2819*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.S3577*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.S3448* NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3617 Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TGAAGAATTTGAACCTTCTGA 0.279 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 4 46 0.00909568 0.00988349 1 0 CDKN2A 1029 broad.mit.edu 37 9 21971120 21971120 + Nonsense_Mutation SNP G G A rs121913388 TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr9:21971120G>A uc003zpk.2 - 2 450 c.238C>T c.(238-240)CGA>TGA p.R80* MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.P135L NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 80 ANK 3. R -> P (in CMM2; loss of CDK4 binding).|R -> L (in a head and neck tumor). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.R80*(88)|p.?(13)|p.R80Q(2)|p.P135L(2)|p.T79fs*37(1)|p.L65fs*38(1)|p.R80fs*66(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)|p.R80?(1)|p.R80L(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TGCACGGGTCGGGTGAGAGTG 0.726 R80*(MEWO_SKIN)|R80*(HSC4_UPPER_AERODIGESTIVE_TRACT) 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 3 14 0 0 0 0 DUSP21 63904 broad.mit.edu 37 X 44703847 44703847 + Missense_Mutation SNP G G A TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chrX:44703847G>A uc004dgd.2 + 1 599 c.469G>A c.(469-471)GAA>AAA p.E157K NM_022076 NP_071359 Q9H596 DUS21_HUMAN dual specificity phosphatase 21 157 Tyrosine-protein phosphatase. cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity large_intestine(1)|lung(1) 2 CATCAATTACGAATTCAAGCT 0.498 NA 9 54 0 0 0 0 NUDT11 55190 broad.mit.edu 37 X 51238820 51238820 + Silent SNP C C T TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chrX:51238820C>T uc010njt.2 - 1 640 c.477G>A c.(475-477)TCG>TCA p.S159S NM_018159 NP_060629 Q96G61 NUD11_HUMAN nudix-type motif 11 159 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding 0 Ovarian(276;0.236) CGCTATCTGGCGAGGATGGGG 0.562 NA HNSCC(48;0.14) 4 31 0 0 0 0 PCDH11X 27328 broad.mit.edu 37 X 91133558 91133558 + Missense_Mutation SNP T T A TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chrX:91133558T>A uc004efk.1 + 2 3164 c.2319T>A c.(2317-2319)AAT>AAA p.N773K PCDH11X_uc004efl.1_Missense_Mutation_p.N773K|PCDH11X_uc004efo.1_Missense_Mutation_p.N773K|PCDH11X_uc010nmv.1_Missense_Mutation_p.N773K|PCDH11X_uc004efm.1_Missense_Mutation_p.N773K|PCDH11X_uc004efn.1_Missense_Mutation_p.N773K|PCDH11X_uc004efh.1_Missense_Mutation_p.N773K|PCDH11X_uc004efj.1_Missense_Mutation_p.N773K NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 773 Cadherin 7.|Extracellular (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 TGTTCGTGAATGAGTCGGTGA 0.433 NA 15 124 0 0 0 0 SMARCA1 6594 broad.mit.edu 37 X 128615129 128615129 + Nonsense_Mutation SNP G G A TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chrX:128615129G>A uc004eun.3 - 18 2364 c.2251C>T c.(2251-2253)CGA>TGA p.R751* SMARCA1_uc004eup.3_Nonsense_Mutation_p.R739*|SMARCA1_uc011muk.1_Nonsense_Mutation_p.R751*|SMARCA1_uc011mul.1_Nonsense_Mutation_p.R739* NM_003069 NP_003060 P28370 SMCA1_HUMAN SWI/SNF-related matrix-associated 751 ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding ovary(3)|skin(1) 4 TTGCGTTCTCGTTTAGGAGGT 0.423 NA 11 49 0 0 0 0 PNMA3 29944 broad.mit.edu 37 X 152226306 152226306 + Silent SNP A A G TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chrX:152226306A>G uc004fhc.2 + 2 1230 c.894A>G c.(892-894)TTA>TTG p.L298L PNMA5_uc004fha.3_5'Flank|PNMA3_uc004fhd.2_5'Flank NM_013364 NP_037496 Q9UL41 PNMA3_HUMAN paraneoplastic cancer-testis-brain antigen 298 apoptosis nucleolus nucleic acid binding|zinc ion binding skin(2)|large_intestine(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) aacgagtcttaagtggggcca 0 NA 6 63 0 0 0 0 F8 2157 broad.mit.edu 37 X 154250784 154250784 + Missense_Mutation SNP C C T TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chrX:154250784C>T uc004fmt.2 - 1 215 c.44G>A c.(43-45)CGA>CAA p.R15Q F8_uc011mzx.1_Intron NM_000132 NP_000123 P00451 FA8_HUMAN coagulation factor VIII isoform a precursor 15 acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 11 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) AAAGCAGAATCGCAAAAGGCA 0.448 NA 4 117 0 0 0 0 CTBS 1486 broad.mit.edu 37 1 85039999 85040007 + In_Frame_Del DEL GCAGCGCCA GCAGCGCCA - TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr1:85039999_85040007delGCAGCGCCA uc001dka.2 - 1 157_165 c.92_100delTGGCGCTGC c.(91-102)CTGGCGCTGCGG>CGG p.LAL31del CTBS_uc001dkc.2_5'UTR|CTBS_uc001dkd.2_5'UTR|CTBS_uc001dkb.2_5'UTR NM_004388 NP_004379 Q01459 DIAC_HUMAN chitobiase, di-N-acetyl- precursor 31_33 lysosome cation binding 0 all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166) GCCGCGAGCCgcagcgccagcagcgccag 0.589 NA 3 6 --- --- --- --- NA NA NA NA ADCY7 113 broad.mit.edu 37 16 50340985 50340986 + Frame_Shift_Ins INS - - C rs74793314 TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr16:50340985_50340986insC uc002egd.1 + 14 2045_2046 c.1777_1778insC c.(1777-1779)GCCfs p.A593fs ADCY7_uc002egc.1_Frame_Shift_Ins_p.A593fs NM_001114 NP_001105 P51828 ADCY7_HUMAN adenylate cyclase 7 593 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding skin(1) 1 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) CATCCCCCGGGCCCGCCACGAC 0.658 NA 7 43 --- --- --- --- NA NA NA NA FAM192A 80011 broad.mit.edu 37 16 57206187 57206189 + In_Frame_Del DEL TTC TTC - TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr16:57206187_57206189delTTC uc010vhk.1 - 4 581_583 c.322_324delGAA c.(322-324)GAAdel p.E108del FAM192A_uc002ekz.3_In_Frame_Del_p.E108del|FAM192A_uc002ekv.3_In_Frame_Del_p.E31del|FAM192A_uc002ekw.3_In_Frame_Del_p.E108del|FAM192A_uc002ekx.3_In_Frame_Del_p.E108del|FAM192A_uc002eky.3_In_Frame_Del_p.E108del|FAM192A_uc010ccx.2_In_Frame_Del_p.E108del NM_024946 NP_079222 Q9GZU8 F192A_HUMAN NEFA-interacting nuclear protein NIP30 108 nucleus 0 GTTCTTTCAGTTCTTCTTCTCTT 0.355 NA 9 108 --- --- --- --- NA NA NA NA ZNF41 7592 broad.mit.edu 37 X 47308645 47308646 + Frame_Shift_Ins INS - - T TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chrX:47308645_47308646insT uc004dhs.3 - 4 716_717 c.649_650insA c.(649-651)ATAfs p.I217fs ZNF41_uc004dhu.3_Frame_Shift_Ins_p.I209fs|ZNF41_uc004dht.3_Frame_Shift_Ins_p.I89fs|ZNF41_uc004dhv.3_Frame_Shift_Ins_p.I185fs|ZNF41_uc004dhw.3_Frame_Shift_Ins_p.I177fs|ZNF41_uc004dhy.3_Frame_Shift_Ins_p.I175fs|ZNF41_uc004dhx.3_Frame_Shift_Ins_p.I175fs|ZNF41_uc011mlm.1_Frame_Shift_Ins_p.I89fs NM_153380 NP_700359 P51814 ZNF41_HUMAN zinc finger protein 41 217 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 all_lung(315;0.000129) CACATGAATTATTTTTTCAATG 0.332 NA 15 131 --- --- --- --- NA NA NA NA