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 G6PD 2539 broad.mit.edu 37 X 153774257 153774257 + Silent SNP A A C TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chrX:153774257A>C ENST00000393562.2 - 2 587 c.204T>G c.(202-204)ggT>ggG p.G68G IKBKG_ENST00000369609.5_Intron|IKBKG_ENST00000369607.1_Intron|G6PD_ENST00000369620.2_Silent_p.G38G|G6PD_ENST00000393564.2_Silent_p.G38G|G6PD_ENST00000497281.1_5'UTR NM_000402.3 NP_000393.4 P11413 G6PD_HUMAN glucose-6-phosphate dehydrogenase 38 V -> M (in A(-) type I; class III; frequent in African population; dbSNP:rs1050828). cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4) 18 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) TCACCGATGCACCCATGATGA 0.562000 37 139 0 0 7.43668e-06 0 0 CA4 762 broad.mit.edu 37 17 58235086 58235086 + Silent SNP G G A TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr17:58235086G>A ENST00000300900.4 + 5 549 c.450G>A c.(448-450)tcG>tcA p.S150S NM_000717.3 NP_000708.1 P22748 CAH4_HUMAN carbonic anhydrase IV 150 bicarbonate transport|one-carbon metabolic process anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane carbonate dehydratase activity|protein binding|zinc ion binding kidney(1)|large_intestine(2)|lung(5)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.83e-12)|all cancers(12;6.83e-11) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021) AGGGGACATCGAGGAATGTGA 0.592000 56 12 0 0 2.47226e-05 0 0 C4BPA 722 broad.mit.edu 37 1 207287557 207287557 + Silent SNP C C T TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr1:207287557C>T ENST00000367070.3 + 3 449 c.255C>T c.(253-255)taC>taT p.Y85Y NM_000715.3 NP_000706.1 P04003 C4BPA_HUMAN complement component 4 binding protein, alpha 85 Sushi 1. complement activation, classical pathway|innate immune response extracellular region protein binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2) 28 TCCCTGGCTACGTCAGATCCC 0.433000 16 46 0 0 3.52763e-06 0 0 CDSN 1041 broad.mit.edu 37 6 31084467 31084467 + Missense_Mutation SNP G G A TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr6:31084467G>A ENST00000376288.2 - 2 951 c.925C>T c.(925-927)Cca>Tca p.P309S PSORS1C1_ENST00000467107.1_3'UTR|PSORS1C1_ENST00000259881.9_Intron NM_001264.4 NP_001255.3 Q15517 CDSN_HUMAN corneodesmosin 309 Ser-rich. cell-cell adhesion|keratinocyte differentiation|skin morphogenesis cornified envelope|desmosome|extracellular region protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1) 10 GTCATGCCTGGAACCAGATAA 0.547000 13 4 0 0 9.31168e-06 0 0 TAOK2 9344 broad.mit.edu 37 16 29998438 29998438 + Missense_Mutation SNP C C T TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr16:29998438C>T ENST00000308893.4 + 16 3888 c.2845C>T c.(2845-2847)Cat>Tat p.H949Y TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000416441.2_Missense_Mutation_p.H776Y|TAOK2_ENST00000543033.1_Missense_Mutation_p.H836Y NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 949 Leu-rich. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 ACTCCTGTCCCATGGCCTCCT 0.667000 39 79 0 0 2.47226e-05 0 0 ZNF7 7553 broad.mit.edu 37 8 146067043 146067043 + Missense_Mutation SNP T T C TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr8:146067043T>C ENST00000528372.1 + 5 791 c.551T>C c.(550-552)cTt>cCt p.L184P ZNF7_ENST00000325241.6_Missense_Mutation_p.L184P|ZNF7_ENST00000532393.1_3'UTR|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000446747.2_Missense_Mutation_p.L195P|ZNF7_ENST00000529819.1_Intron|ZNF7_ENST00000544249.1_Missense_Mutation_p.L88P P17097 ZNF7_HUMAN zinc finger protein 7 184 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143) Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;2.11e-07) TGTCAGCCTCTTGAAAGTCAG 0.537000 19 72 0 0 1.15919e-05 0 0 NCOA7 135112 broad.mit.edu 37 6 126211073 126211073 + Missense_Mutation SNP A A G TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr6:126211073A>G ENST00000368357.3 + 10 2225 c.1873A>G c.(1873-1875)Aat>Gat p.N625D NCOA7_ENST00000229634.9_Missense_Mutation_p.N510D|NCOA7_ENST00000392477.2_Missense_Mutation_p.N625D NM_001199619.1|NM_001199620.1 NP_001186548.1|NP_001186549.1 Q8NI08 NCOA7_HUMAN nuclear receptor coactivator 7 625 cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2) 39 UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237) ACAAATGGATAATAAATCTGA 0.373000 37 18 0 0 9.21781e-06 0 0 NAPA 8775 broad.mit.edu 37 19 47991567 47991567 + Missense_Mutation SNP C C T TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr19:47991567C>T ENST00000263354.3 - 11 1165 c.866G>A c.(865-867)gGc>gAc p.G289D NAPA-AS1_ENST00000593284.1_RNA|NAPA-AS1_ENST00000594367.1_RNA|NAPA_ENST00000595227.1_Missense_Mutation_p.G250D NM_003827.3 NP_003818.2 P54920 SNAA_HUMAN N-ethylmaleimide-sensitive factor attachment protein, alpha 289 cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport cytosol breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3) 11 all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049) CTCCTCATCGCCCTGGATGGT 0.622000 23 36 0 0 1.32003e-05 0 0 SMG1 23049 broad.mit.edu 37 16 18848644 18848644 + Missense_Mutation SNP A A G TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr16:18848644A>G ENST00000446231.2 - 46 7947 c.7535T>C c.(7534-7536)cTa>cCa p.L2512P SMG1_ENST00000389467.3_Missense_Mutation_p.L2512P Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 2512 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 TTCCTCCAGTAGTTTGCCCTG 0.428000 63 134 0 0 2.47226e-05 0 0 RGPD3 653489 broad.mit.edu 37 2 107073516 107073516 + Missense_Mutation SNP T T C TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr2:107073516T>C ENST00000409886.3 - 4 403 c.316A>G c.(316-318)Aaa>Gaa p.K106E RGPD3_ENST00000304514.7_Missense_Mutation_p.K106E NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 106 intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 ACATCATTTTTACAAAGCAAT 0.328000 61 104 0 0 2.47226e-05 0 0 BAGE2 85319 broad.mit.edu 37 21 11058322 11058322 + RNA SNP C C T TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr21:11058322C>T ENST00000470054.1 - 0 325 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AAATGCACATCGCTGAAAGGG 0.383000 7 169 0 0 1.12685e-05 0 0 LILRB4 11006 broad.mit.edu 37 19 55179198 55179198 + Missense_Mutation SNP A A G TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr19:55179198A>G ENST00000391736.1 + 13 1469 c.1154A>G c.(1153-1155)gAc>gGc p.D385G LILRB4_ENST00000391733.3_Missense_Mutation_p.D386G|LILRB4_ENST00000391734.3_Intron|LILRB4_ENST00000430952.2_Missense_Mutation_p.D384G|LILRB4_ENST00000270452.2_Missense_Mutation_p.D385G NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2 NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 385 integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) GAATTCCTGGACACAAAGGAC 0.587000 4 22 0 0 1.23904e-05 0 0 MYH1 4619 broad.mit.edu 37 17 10415496 10415496 + Silent SNP T T C TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr17:10415496T>C ENST00000226207.5 - 13 1255 c.1161A>G c.(1159-1161)gcA>gcG p.A387A CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 387 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 GGAGATAGGCTGCCTTGTCAG 0.443000 7 83 0 0 5.18039e-06 0 0 UPF1 5976 broad.mit.edu 37 19 18960966 18960966 + Nonsense_Mutation SNP G G T TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr19:18960966G>T ENST00000262803.5 + 4 816 c.544G>T c.(544-546)Gag>Tag p.E182* UPF1_ENST00000599848.1_Nonsense_Mutation_p.E182*|UPF1_ENST00000600310.1_3'UTR NM_002911.3 NP_002902.2 Q92900 RENT1_HUMAN UPF1 regulator of nonsense transcripts homolog (yeast) 182 Sufficient for interaction with RENT2. cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 GACAGTCCTGGAGTGCTACAA 0.572000 24 38 1.22574e-08 4.43753e-06 3.10358e-05 1 0 HLA-A 3105 broad.mit.edu 37 6 29910693 29910693 + Missense_Mutation SNP A A G rs41559716 by1000genomes TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr6:29910693A>G ENST00000396634.1 + 4 574 c.233A>G c.(232-234)cAg>cGg p.Q78R HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R P30443 1A01_HUMAN major histocompatibility complex, class I, A 78 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity p.Q78R(2) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TGGATAGAGCAGGAGGGGCCG 0.657000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 6 13 0 0 5.9392e-07 0 0 PCDH15 65217 broad.mit.edu 37 10 55996590 55996590 + Silent SNP G G A TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr10:55996590G>A ENST00000373965.2 - 9 1372 c.978C>T c.(976-978)atC>atT p.I326I PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000414778.1_Silent_p.I331I|PCDH15_ENST00000395445.1_Silent_p.I326I|PCDH15_ENST00000373955.1_Silent_p.I326I|PCDH15_ENST00000395433.1_Silent_p.I304I|PCDH15_ENST00000395446.1_Silent_p.I326I|PCDH15_ENST00000395430.1_Silent_p.I326I|PCDH15_ENST00000320301.6_Silent_p.I326I|PCDH15_ENST00000361849.3_Silent_p.I326I|PCDH15_ENST00000395442.1_Silent_p.I326I|PCDH15_ENST00000395432.2_Silent_p.I289I|PCDH15_ENST00000437009.1_Silent_p.I326I|PCDH15_ENST00000373957.3_Silent_p.I304I|PCDH15_ENST00000395440.1_Silent_p.I326I|PCDH15_ENST00000395438.1_Silent_p.I326I NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 326 Cadherin 3. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) AACCAACAAGGATGGAATAGA 0.363000 HNSCC(58;0.16) 27 59 0 0 1.7367e-05 0 0 MYOM1 8736 broad.mit.edu 37 18 3188908 3188908 + Silent SNP T T C TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr18:3188908T>C ENST00000400569.3 - 4 942 c.609A>G c.(607-609)acA>acG p.T203T MYOM1_ENST00000356443.4_Silent_p.T203T|MYOM1_ENST00000261606.7_Silent_p.T203T P52179 MYOM1_HUMAN myomesin 1 203 6 X 6 AA tandem repeats. striated muscle myosin thick filament structural constituent of muscle p.T203T(1) NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 GCTTGGATGCTGTGGACTGCT 0.532000 5 93 0 0 5.18039e-06 0 0 RYR2 6262 broad.mit.edu 37 1 237732504 237732504 + Silent SNP C C T TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr1:237732504C>T ENST00000366574.2 + 29 3800 c.3483C>T c.(3481-3483)gtC>gtT p.V1161V RYR2_ENST00000360064.6_Silent_p.V1159V|RYR2_ENST00000542537.1_Silent_p.V1145V NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1161 4 X approximate repeats.|B30.2/SPRY 2. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CAGGCGATGTCGTGGGGTGTA 0.502000 13 32 0 0 5.50884e-06 0 0 PSG3 5671 broad.mit.edu 37 19 43243060 43243060 + Silent SNP G G A TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr19:43243060G>A ENST00000327495.5 - 2 430 c.246C>T c.(244-246)taC>taT p.Y82Y PSG3_ENST00000490592.1_5'UTR|PSG3_ENST00000595140.1_Silent_p.Y82Y NM_021016.3 NP_066296.2 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 82 Ig-like V-type. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) CATCTACTACGTATGATGTAA 0.443000 124 203 0 0 2.47226e-05 0 0 CCNE2 9134 broad.mit.edu 37 8 95906253 95906253 + Missense_Mutation SNP G G T TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr8:95906253G>T ENST00000520509.1 - 3 361 c.109C>A c.(109-111)Cag>Aag p.Q37K CCNE2_ENST00000308108.4_Missense_Mutation_p.Q37K|CCNE2_ENST00000396133.3_Missense_Mutation_p.Q37K O96020 CCNE2_HUMAN cyclin E2 37 cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity cytosol|nucleoplasm protein kinase binding cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(36;8.75e-07) TAAATCACCTGGGTAGTTTTC 0.468000 15 841 3.52763e-06 0.00124062 3.52763e-06 1 0 FRG1B 284802 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 7 74 0 0 5.18039e-06 0 0 HOMER1 9456 broad.mit.edu 37 5 78671906 78671906 + Missense_Mutation SNP C C T TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr5:78671906C>T ENST00000334082.6 - 9 2433 c.991G>A c.(991-993)Gaa>Aaa p.E331K HOMER1_ENST00000282260.6_Missense_Mutation_p.E201K|HOMER1_ENST00000535690.1_Missense_Mutation_p.E157K|HOMER1_ENST00000508576.1_3'UTR NM_004272.3 NP_004263.1 Q86YM7 HOME1_HUMAN homer homolog 1 (Drosophila) 331 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1) 14 Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36) TCCAGAATTTCTAAGAGTGTC 0.393000 28 55 0 0 1.32003e-05 0 0 PRDM16 63976 broad.mit.edu 37 1 3328709 3328709 + Missense_Mutation SNP G G A TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr1:3328709G>A ENST00000378398.3 + 10 2033 c.1951G>A c.(1951-1953)Ggg>Agg p.G651R PRDM16_ENST00000378391.2_Missense_Mutation_p.G650R|PRDM16_ENST00000442529.2_Missense_Mutation_p.G650R|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000441472.2_Missense_Mutation_p.G650R|PRDM16_ENST00000270722.5_Missense_Mutation_p.G650R|PRDM16_ENST00000514189.1_Missense_Mutation_p.G651R|PRDM16_ENST00000511072.1_Missense_Mutation_p.G651R Q9HAZ2 PRD16_HUMAN PR domain containing 16 650 brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) GCCCAAGTTTGGGGGCGGCTT 0.687000 T EVI1 """MDS, AML""" 34 5 0 0 1.8613e-05 0 0 ZNF35 7584 broad.mit.edu 37 3 44692709 44692709 + Silent SNP G G A TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr3:44692709G>A ENST00000396056.2 + 2 385 c.150G>A c.(148-150)caG>caA p.Q50Q ZNF35_ENST00000399560.2_Silent_p.Q50Q|ZNF35_ENST00000296092.3_Silent_p.Q50Q|ZNF35_ENST00000542250.1_5'UTR|ZNF35_ENST00000453164.1_Silent_p.Q50Q|RP11-944L7.4_ENST00000457331.1_RNA NM_003420.3 NP_003411.3 P13682 ZNF35_HUMAN zinc finger protein 35 50 Globular domain. cellular response to retinoic acid|spermatogenesis nucleus|perinuclear region of cytoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 12 Ovarian(412;0.0228) OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595) CCCCAGTGCAGGGTCTTCAGA 0.502000 21 34 0 0 3.83957e-06 0 0 ADAM30 11085 broad.mit.edu 37 1 120436620 120436620 + Silent SNP G G T TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr1:120436620G>T ENST00000369400.1 - 1 2498 c.2340C>A c.(2338-2340)ccC>ccA p.P780P NM_021794.3 NP_068566.2 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 780 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) TCTTTGCTTTGGGTCGTTTAC 0.368000 49 2240 7.41877e-09 2.7672e-06 2.27731e-05 1 0 LARS 51520 broad.mit.edu 37 5 145533506 145533506 + Missense_Mutation SNP G G A TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr5:145533506G>A ENST00000394434.2 - 11 1269 c.1103C>T c.(1102-1104)tCa>tTa p.S368L LARS_ENST00000545646.1_Missense_Mutation_p.S322L|LARS_ENST00000274562.9_Missense_Mutation_p.S341L|LARS_ENST00000510191.1_Missense_Mutation_p.S314L NM_020117.9 NP_064502.9 Q9P2J5 SYLC_HUMAN leucyl-tRNA synthetase 368 Editing domain. leucyl-tRNA aminoacylation cytosol ATP binding|leucine-tRNA ligase activity|protein binding breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8) 34 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Leucine(DB00149) CACCTTGTATGATGTTAAAGG 0.294000 28 48 0 0 1.48458e-05 0 0 HLA-DRB6 3128 broad.mit.edu 37 6 32522401 32522401 + RNA SNP G G A rs36183131 by1000genomes TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr6:32522401G>A ENST00000411500.1 - 0 740 NR_001298.1 GAAACCTGACGCTCAGGGATT 0.483000 4 17 0 0 5.18039e-06 0 0 PTPN1 5770 broad.mit.edu 37 20 49195776 49195776 + Missense_Mutation SNP G G T TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr20:49195776G>T ENST00000371621.3 + 7 948 c.774G>T c.(772-774)atG>atT p.M258I PTPN1_ENST00000541713.1_Missense_Mutation_p.M185I NM_001278618.1|NM_002827.2 NP_001265547.1|NP_002818.1 P18031 PTN1_HUMAN protein tyrosine phosphatase, non-receptor type 1 258 Tyrosine-protein phosphatase. blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytosol|endoplasmic reticulum membrane protein tyrosine phosphatase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2) 16 Lung NSC(126;0.163) Clodronate(DB00720)|Tiludronate(DB01133) AGTTTCGGATGGGGCTGATCC 0.502000 57 195 3.89483e-19 1.49817e-16 2.47226e-05 1 0 PASK 23178 broad.mit.edu 37 2 242066278 242066278 + Silent SNP C C T TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr2:242066278C>T ENST00000403638.3 - 10 2143 c.2052G>A c.(2050-2052)ccG>ccA p.P684P PASK_ENST00000539818.1_Silent_p.P468P|PASK_ENST00000544142.1_Silent_p.P498P|PASK_ENST00000405260.1_Silent_p.P684P|PASK_ENST00000234040.4_Silent_p.P684P|PASK_ENST00000358649.4_Silent_p.P684P NM_001252124.1 NP_001239053.1 Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase 684 P -> R (in dbSNP:rs56372985). regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2) 53 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) GGCACTCTGTCGGAACGAGTT 0.617000 28 59 0 0 2.90539e-05 0 0 BCL9L 283149 broad.mit.edu 37 11 118779312 118779312 + Missense_Mutation SNP G G A TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr11:118779312G>A ENST00000334801.3 - 2 1043 c.79C>T c.(79-81)Cgc>Tgc p.R27C BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 27 negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) CAATGACCGCGGGGGGACAGC 0.592000 7 15 0 0 1.12685e-05 0 0 PHF3 23469 broad.mit.edu 37 6 64394879 64394879 + Missense_Mutation SNP C C T TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr6:64394879C>T ENST00000262043.3 + 4 1596 c.1256C>T c.(1255-1257)tCa>tTa p.S419L PHF3_ENST00000509330.1_Missense_Mutation_p.S419L|PHF3_ENST00000393387.1_Missense_Mutation_p.S419L Q92576 PHF3_HUMAN PHD finger protein 3 419 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) TTTAATAAATCAAACTTAGAG 0.363000 33 61 0 0 1.48458e-05 0 0 LMBRD2 92255 broad.mit.edu 37 5 36123065 36123066 + Splice_Site INS - - A rs72438158 TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr5:36123065_36123066insA ENST00000296603.4 - 8 1285 c.e8-2 NM_001007527.1 NP_001007528.1 Q68DH5 LMBD2_HUMAN LMBR1 domain containing 2 integral to membrane breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(31;0.000146) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TGTAGGGCACtaaaaaaaaaaa 0.252 7 43 --- --- --- --- ZAN 7455 broad.mit.edu 37 7 100369721 100369721 + RNA DEL T T - TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr7:100369721delT ENST00000542585.1 + 0 5573 ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ctctaaattcttttttttttt 0.532 2 4 --- --- --- --- NDUFS7 374291 broad.mit.edu 37 19 1388895 1388896 + Frame_Shift_Del DEL TG TG - TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a1877f1-669a-4916-ab45-365dbc10f580 9dda350d-cbaa-40f9-9e44-733f8dcdea17 g.chr19:1388895_1388896delTG ENST00000313408.7 + 4 209_210 c.186_187delTG c.(184-189)tatgfs p.YV62fs NDUFS7_ENST00000539480.1_Frame_Shift_Del_p.YV62fs|NDUFS7_ENST00000233627.9_Frame_Shift_Del_p.YV62fs|NDUFS7_ENST00000414651.2_Frame_Shift_Del_p.YV92fs|NDUFS7_ENST00000546283.1_Frame_Shift_Del_p.YV62fs|NDUFS7_ENST00000540530.1_3'UTR O75251 NDUS7_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) 62 mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding ovary(1) 1 Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419) 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) NADH(DB00157) GGGGCGAGTATGTGGTGGCCAA 0.663 2 4 --- --- --- ---