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 KCNV1 27012 broad.mit.edu 37 8 110984685 110984685 + Missense_Mutation SNP G G A TCGA-ZG-A9LM-01A-11D-A41K-08 TCGA-ZG-A9LM-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0645a-3e19-4a87-b182-a77e3ca3eab6 fde485ee-fc50-4398-a1f7-06e84028479a g.chr8:110984685G>A ENST00000524391.1 - 3 1825 c.793C>T c.(793-795)Cgg>Tgg p.R265W KCNV1_ENST00000297404.1_Missense_Mutation_p.R265W Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 265 voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) CACCTGTCCCGCACACACAGG 0.532000 3 43 0 0 1 0 0 ITPRIPL1 150771 broad.mit.edu 37 2 96993057 96993057 + Missense_Mutation SNP C C T TCGA-ZG-A9LM-01A-11D-A41K-08 TCGA-ZG-A9LM-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0645a-3e19-4a87-b182-a77e3ca3eab6 fde485ee-fc50-4398-a1f7-06e84028479a g.chr2:96993057C>T ENST00000361124.4 + 1 1123 c.712C>T c.(712-714)Cat>Tat p.H238Y ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.H222Y|ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.H222Y|ITPRIPL1_ENST00000439118.2_Missense_Mutation_p.H230Y NM_178495.5 NP_848590.3 Q6GPH6 IPIL1_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein-like 1 230 integral to membrane breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GGGAACCCTCCATGAGACCCA 0.602000 13 39 0 0 1 0 0 OR4N4 283694 broad.mit.edu 37 15 22382875 22382875 + Missense_Mutation SNP G G C TCGA-ZG-A9LM-01A-11D-A41K-08 TCGA-ZG-A9LM-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0645a-3e19-4a87-b182-a77e3ca3eab6 fde485ee-fc50-4398-a1f7-06e84028479a g.chr15:22382875G>C ENST00000328795.4 + 1 494 c.403G>C c.(403-405)Gtc>Ctc p.V135L RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 135 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) CTGTTCAACTGTCATGAACCC 0.527000 51 36 0 0 1 0 0 IGLV3-22 0 broad.mit.edu 37 22 23047197 23047197 + RNA SNP C C T TCGA-ZG-A9LM-01A-11D-A41K-08 TCGA-ZG-A9LM-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0645a-3e19-4a87-b182-a77e3ca3eab6 fde485ee-fc50-4398-a1f7-06e84028479a g.chr22:23047197C>T ENST00000390307.2 + 0 299 AATCCCTGAACGATTCTCTGG 0.547000 8 29 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-ZG-A9LM-01A-11D-A41K-08 TCGA-ZG-A9LM-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0645a-3e19-4a87-b182-a77e3ca3eab6 fde485ee-fc50-4398-a1f7-06e84028479a g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 4 100 0 0 1 0 0 CENPF 1063 broad.mit.edu 37 1 214811277 214811277 + Silent SNP G G A TCGA-ZG-A9LM-01A-11D-A41K-08 TCGA-ZG-A9LM-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0645a-3e19-4a87-b182-a77e3ca3eab6 fde485ee-fc50-4398-a1f7-06e84028479a g.chr1:214811277G>A ENST00000366955.3 + 11 1683 c.1515G>A c.(1513-1515)ctG>ctA p.L505L NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 505 cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) TCTGCCACCTGGAGGCAGAAC 0.373000 20 27 0 0 1 0 0 EIF2S1 1965 broad.mit.edu 37 14 67850087 67850087 + Missense_Mutation SNP T T C TCGA-ZG-A9LM-01A-11D-A41K-08 TCGA-ZG-A9LM-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0645a-3e19-4a87-b182-a77e3ca3eab6 fde485ee-fc50-4398-a1f7-06e84028479a g.chr14:67850087T>C ENST00000256383.4 + 8 1339 c.878T>C c.(877-879)cTt>cCt p.L293P EIF2S1_ENST00000466499.2_Missense_Mutation_p.L293P NM_004094.4 NP_004085.1 P05198 IF2A_HUMAN eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa 293 cytosol|eukaryotic translation initiation factor 2 complex|polysome|stress granule protein binding|ribosome binding|translation initiation factor activity breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 9 all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937) ATGGAGAGGCTTGAAAGAGAA 0.418000 11 21 0 0 1 0 0 NOX1 27035 broad.mit.edu 37 X 100104284 100104284 + Silent SNP T T C TCGA-ZG-A9LM-01A-11D-A41K-08 TCGA-ZG-A9LM-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0645a-3e19-4a87-b182-a77e3ca3eab6 fde485ee-fc50-4398-a1f7-06e84028479a g.chrX:100104284T>C ENST00000372966.3 - 11 1633 c.1428A>G c.(1426-1428)ggA>ggG p.G476G NOX1_ENST00000217885.5_Intron|NOX1_ENST00000372960.4_Silent_p.G439G|NOX1_ENST00000372964.1_Intron NM_007052.4|NM_013955.2 NP_008983.2|NP_039249.1 Q9Y5S8 NOX1_HUMAN NADPH oxidase 1 476 Interaction with NOXO1. angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation cell junction|early endosome|invadopodium membrane|NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity cervix(1)|lung(3)|ovary(1)|skin(2) 7 TGCTGTCCCATCCGGTGAGGA 0.423000 17 15 0 0 1 0 0 EMP1 2012 broad.mit.edu 37 12 13367625 13367625 + Nonstop_Mutation SNP A A T TCGA-ZG-A9LM-01A-11D-A41K-08 TCGA-ZG-A9LM-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0645a-3e19-4a87-b182-a77e3ca3eab6 fde485ee-fc50-4398-a1f7-06e84028479a g.chr12:13367625A>T ENST00000256951.5 + 5 673 c.474A>T c.(472-474)taA>taT p.*158Y EMP1_ENST00000537612.1_Intron|EMP1_ENST00000431267.2_Nonstop_Mutation_p.*91Y|EMP1_ENST00000396301.3_3'UTR|EMP1_ENST00000544053.1_3'UTR|EMP1_ENST00000542289.1_Intron NM_001423.2 NP_001414.1 P54849 EMP1_HUMAN epithelial membrane protein 1 0 cell growth|cell proliferation|epidermis development integral to membrane|membrane fraction Prostate(47;0.194) BRCA - Breast invasive adenocarcinoma(232;0.153) GAAAGAAATAAGGCCGGACGA 0.542000 3 72 0 0 1 0 0 COL21A1 0 broad.mit.edu 37 6 56035877 56035877 + Silent SNP T T C TCGA-ZG-A9LM-01A-11D-A41K-08 TCGA-ZG-A9LM-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0645a-3e19-4a87-b182-a77e3ca3eab6 fde485ee-fc50-4398-a1f7-06e84028479a g.chr6:56035877T>C ENST00000244728.5 - 4 1087 c.690A>G c.(688-690)ggA>ggG p.G230G COL21A1_ENST00000370819.1_Silent_p.G230G|COL21A1_ENST00000535941.1_Silent_p.G230G NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 230 TSP N-terminal. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) GAATATCAAATCCCCTTTCAT 0.318000 13 34 0 0 1 0 0 PGM5 5239 broad.mit.edu 37 9 71094403 71094403 + Missense_Mutation SNP G G A TCGA-ZG-A9LM-01A-11D-A41K-08 TCGA-ZG-A9LM-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0645a-3e19-4a87-b182-a77e3ca3eab6 fde485ee-fc50-4398-a1f7-06e84028479a g.chr9:71094403G>A ENST00000396396.1 + 8 1458 c.1229G>A c.(1228-1230)cGg>cAg p.R410Q NM_021965.3 NP_068800.2 Q15124 PGM5_HUMAN phosphoglucomutase 5 410 cell adhesion|cellular calcium ion homeostasis|glucose metabolic process costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity p.R410Q(2) endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 34 ATTGCTGCCCGGAAGCAGAGT 0.532000 3 72 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345756 33345756 + Silent SNP T T C TCGA-ZG-A9LM-01A-11D-A41K-08 TCGA-ZG-A9LM-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0645a-3e19-4a87-b182-a77e3ca3eab6 fde485ee-fc50-4398-a1f7-06e84028479a g.chr20:33345756T>C ENST00000374796.2 - 8 3365 c.795A>G c.(793-795)caA>caG p.Q265Q NCOA6_ENST00000359003.2_Silent_p.Q265Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 265 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q265Q(1) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gttgttgttgttgctgctgct 0.537000 3 35 0 0 1 0 0 ATP2B2 491 broad.mit.edu 37 3 10401651 10401651 + Missense_Mutation SNP G G A TCGA-ZG-A9LM-01A-11D-A41K-08 TCGA-ZG-A9LM-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0645a-3e19-4a87-b182-a77e3ca3eab6 fde485ee-fc50-4398-a1f7-06e84028479a g.chr3:10401651G>A ENST00000397077.1 - 12 2256 c.1681C>T c.(1681-1683)Cgc>Tgc p.R561C ATP2B2_ENST00000383800.4_Missense_Mutation_p.R561C|ATP2B2_ENST00000360273.2_Missense_Mutation_p.R606C|ATP2B2_ENST00000352432.4_Missense_Mutation_p.R606C|ATP2B2_ENST00000343816.4_Missense_Mutation_p.R592C Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 606 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 ATGGACTTGCGCACGGAGTTG 0.577000 37 70 0 0 1 0 0 FUNDC2P2 0 broad.mit.edu 37 2 84517949 84517949 + RNA SNP G G A TCGA-ZG-A9LM-01A-11D-A41K-08 TCGA-ZG-A9LM-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0645a-3e19-4a87-b182-a77e3ca3eab6 fde485ee-fc50-4398-a1f7-06e84028479a g.chr2:84517949G>A ENST00000331369.5 + 0 143 CGAAATGGCCGCGTCCAGTCA 0.587000 10 30 0 0 1 0 0 MSGN1 343930 broad.mit.edu 37 2 17998086 17998086 + Nonsense_Mutation SNP C C T TCGA-ZG-A9LM-01A-11D-A41K-08 TCGA-ZG-A9LM-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0645a-3e19-4a87-b182-a77e3ca3eab6 fde485ee-fc50-4398-a1f7-06e84028479a g.chr2:17998086C>T ENST00000281047.3 + 1 324 c.301C>T c.(301-303)Cag>Tag p.Q101* NM_001105569.1 NP_001099039.1 A6NI15 MSGN1_HUMAN mesogenin 1 101 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) GTTAGCTTTCCAGCCCACCCA 0.647000 7 30 0 0 1 0 0 HTR1E 3354 broad.mit.edu 37 6 87725923 87725923 + Missense_Mutation SNP C C T TCGA-ZG-A9LM-01A-11D-A41K-08 TCGA-ZG-A9LM-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0645a-3e19-4a87-b182-a77e3ca3eab6 fde485ee-fc50-4398-a1f7-06e84028479a g.chr6:87725923C>T ENST00000305344.4 + 2 1574 c.871C>T c.(871-873)Cgc>Tgc p.R291C HTR1E_ENST00000369584.1_Missense_Mutation_p.R291C NM_000865.2 NP_000856.1 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled 291 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity p.R291C(1) breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3) 41 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) GAAGGCAGCACGCATCCTGGG 0.517000 36 67 0 0 1 0 0 CYP4F3 4051 broad.mit.edu 37 19 15758123 15758123 + Missense_Mutation SNP A A G TCGA-ZG-A9LM-01A-11D-A41K-08 TCGA-ZG-A9LM-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0645a-3e19-4a87-b182-a77e3ca3eab6 fde485ee-fc50-4398-a1f7-06e84028479a g.chr19:15758123A>G ENST00000221307.7 + 5 562 c.514A>G c.(514-516)Aac>Gac p.N172D CYP4F3_ENST00000586182.1_Missense_Mutation_p.N172D|CYP4F3_ENST00000591058.1_Missense_Mutation_p.N172D|CYP4F3_ENST00000585846.1_Missense_Mutation_p.N172D NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 172 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 TGAGAGTGTGAACATCATGCA 0.507000 37 85 0 0 1 0 0 MFRP 83552 broad.mit.edu 37 11 119213427 119213427 + Missense_Mutation SNP C C T TCGA-ZG-A9LM-01A-11D-A41K-08 TCGA-ZG-A9LM-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0645a-3e19-4a87-b182-a77e3ca3eab6 fde485ee-fc50-4398-a1f7-06e84028479a g.chr11:119213427C>T ENST00000360167.4 - 9 1191 c.1040G>A c.(1039-1041)gGc>gAc p.G347D C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000449574.2_Silent_p.G422G|MFRP_ENST00000555262.1_Silent_p.G422G|MFRP_ENST00000530681.1_Silent_p.G422G membrane frizzled-related protein autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1) 18 Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.84e-05) GCTCACTGGGCCCACAGGGGT 0.627000 16 39 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A rs121913343 TCGA-ZG-A9LM-01A-11D-A41K-08 TCGA-ZG-A9LM-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0645a-3e19-4a87-b182-a77e3ca3eab6 fde485ee-fc50-4398-a1f7-06e84028479a g.chr17:7577121G>A ENST00000420246.2 - 8 949 c.817C>T c.(817-819)Cgt>Tgt p.R273C TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 273 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). 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 -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCACAAACACGCACCTCAAAG 0.542000 R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID) 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 9 7 0 0 1 0 0 PSMC1 5700 broad.mit.edu 37 14 90735788 90735788 + Missense_Mutation SNP T T C TCGA-ZG-A9LM-01A-11D-A41K-08 TCGA-ZG-A9LM-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0645a-3e19-4a87-b182-a77e3ca3eab6 fde485ee-fc50-4398-a1f7-06e84028479a g.chr14:90735788T>C ENST00000261303.8 + 9 1032 c.929T>C c.(928-930)tTg>tCg p.L310S PSMC1_ENST00000543772.2_Missense_Mutation_p.L237S NM_002802.2 NP_002793.2 P62191 PRS4_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 1 310 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|ATPase activity|protein binding endometrium(2)|kidney(2)|upper_aerodigestive_tract(2) 6 all_cancers(154;0.142) COAD - Colon adenocarcinoma(157;0.21) CGAACAATGTTGGAACTGCTG 0.413000 21 53 0 0 1 0 0 RNPEPL1 57140 broad.mit.edu 37 2 241513550 241513550 + Missense_Mutation SNP C C T TCGA-ZG-A9LM-01A-11D-A41K-08 TCGA-ZG-A9LM-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0645a-3e19-4a87-b182-a77e3ca3eab6 fde485ee-fc50-4398-a1f7-06e84028479a g.chr2:241513550C>T ENST00000270357.3 + 5 859 c.266C>T c.(265-267)cCa>cTa p.P89L NM_018226.4 NP_060696.4 Q9HAU8 RNPL1_HUMAN arginyl aminopeptidase (aminopeptidase B)-like 1 89 leukotriene biosynthetic process|proteolysis aminopeptidase activity|metallopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 13 all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238) Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322) GTCTTCCTGCCACCCTCCTTC 0.627000 3 39 0 0 1 0 0 RIC8A 60626 broad.mit.edu 37 11 209474 209474 + Missense_Mutation SNP T T A TCGA-ZG-A9LM-01A-11D-A41K-08 TCGA-ZG-A9LM-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0645a-3e19-4a87-b182-a77e3ca3eab6 fde485ee-fc50-4398-a1f7-06e84028479a g.chr11:209474T>A ENST00000526104.1 + 3 1544 c.200T>A c.(199-201)cTg>cAg p.L67Q RIC8A_ENST00000325207.5_Missense_Mutation_p.L67Q|RIC8A_ENST00000527696.1_Missense_Mutation_p.L61Q Q9NPQ8 RIC8A_HUMAN RIC8 guanine nucleotide exchange factor A 67 cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1) 13 all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122) GTCATCTGGCTGCAGAGTGTC 0.647000 27 40 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-ZG-A9LM-01A-11D-A41K-08 TCGA-ZG-A9LM-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0645a-3e19-4a87-b182-a77e3ca3eab6 fde485ee-fc50-4398-a1f7-06e84028479a g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 4 32 0 0 1 0 0 UBXN11 91544 broad.mit.edu 37 1 26629355 26629355 + Missense_Mutation SNP G G A TCGA-ZG-A9LM-01A-11D-A41K-08 TCGA-ZG-A9LM-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0645a-3e19-4a87-b182-a77e3ca3eab6 fde485ee-fc50-4398-a1f7-06e84028479a g.chr1:26629355G>A ENST00000314675.7 - 2 99 c.20C>T c.(19-21)tCc>tTc p.S7F UBXN11_ENST00000357089.4_Missense_Mutation_p.S7F|UBXN11_ENST00000436301.2_Intron|UBXN11_ENST00000374221.3_Missense_Mutation_p.S7F|UBXN11_ENST00000374222.1_Missense_Mutation_p.S7F|UBXN11_ENST00000374223.1_Intron|UBXN11_ENST00000374217.2_Missense_Mutation_p.S7F|UBXN11_ENST00000535108.1_Intron NM_001077262.1 NP_001070730.1 Q5T124 UBX11_HUMAN UBX domain protein 11 7 cytoplasm|cytoskeleton endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3) 23 CTTGCTAAGGGAGGCCAAAGG 0.567000 13 22 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414379 20414379 + Silent SNP G G A TCGA-ZG-A9LM-01A-11D-A41K-08 TCGA-ZG-A9LM-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0645a-3e19-4a87-b182-a77e3ca3eab6 fde485ee-fc50-4398-a1f7-06e84028479a g.chr9:20414379G>A ENST00000380338.4 - 5 751 c.465C>T c.(463-465)agC>agT p.S155S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 155 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S155S(4) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.532000 T MLL ALL 3 42 0 0 1 0 0 PGM2 55276 broad.mit.edu 37 4 37848860 37848860 + Missense_Mutation SNP C C G TCGA-ZG-A9LM-01A-11D-A41K-08 TCGA-ZG-A9LM-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0645a-3e19-4a87-b182-a77e3ca3eab6 fde485ee-fc50-4398-a1f7-06e84028479a g.chr4:37848860C>G ENST00000381967.4 + 10 1326 c.1226C>G c.(1225-1227)gCc>gGc p.A409G PGM2_ENST00000544359.1_Missense_Mutation_p.A270G|PGM2_ENST00000537241.1_Missense_Mutation_p.A249G NM_018290.3 NP_060760.2 Q96G03 PGM2_HUMAN phosphoglucomutase 2 409 glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1) 19 GGAAACAGAGCCAAACAGCTA 0.383000 7 39 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215956215 215956215 + Nonsense_Mutation SNP G G A rs111033379 TCGA-ZG-A9LM-01A-11D-A41K-08 TCGA-ZG-A9LM-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0645a-3e19-4a87-b182-a77e3ca3eab6 fde485ee-fc50-4398-a1f7-06e84028479a g.chr1:215956215G>A ENST00000366943.2 - 53 10836 c.10450C>T c.(10450-10452)Cga>Tga p.R3484* USH2A_ENST00000307340.3_Nonsense_Mutation_p.R3484* O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3484 Fibronectin type-III 19. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CTGAGTCCTCGCCCATAGCTG 0.443000 HNSCC(13;0.011) 5 54 0 0 1 0 0 ELMSAN1 91748 broad.mit.edu 37 14 74196649 74196649 + Missense_Mutation SNP C C T rs141337993 TCGA-ZG-A9LM-01A-11D-A41K-08 TCGA-ZG-A9LM-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0645a-3e19-4a87-b182-a77e3ca3eab6 fde485ee-fc50-4398-a1f7-06e84028479a g.chr14:74196649C>T ENST00000286523.5 - 4 2571 c.1789G>A c.(1789-1791)Gtg>Atg p.V597M ELMSAN1_ENST00000394071.2_Missense_Mutation_p.V597M NM_194278.3 NP_919254.2 ELM2 and Myb/SANT-like domain containing 1 GGTTTCCGCACGGAAGGCTCC 0.587000 9 28 0 0 1 0 0 ZNF318 24149 broad.mit.edu 37 6 43323044 43323044 + Silent SNP T T C TCGA-ZG-A9LM-01A-11D-A41K-08 TCGA-ZG-A9LM-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0645a-3e19-4a87-b182-a77e3ca3eab6 fde485ee-fc50-4398-a1f7-06e84028479a g.chr6:43323044T>C ENST00000361428.2 - 4 2105 c.2028A>G c.(2026-2028)ctA>ctG p.L676L ZNF318_ENST00000318149.3_Silent_p.L676L NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 676 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) CCCTGCTCTCTAGTCTGTGGG 0.542000 24 45 0 0 1 0 0 MAP2K7 5609 broad.mit.edu 37 19 7968910 7968910 + Missense_Mutation SNP G G T TCGA-ZG-A9LM-01A-11D-A41K-08 TCGA-ZG-A9LM-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0645a-3e19-4a87-b182-a77e3ca3eab6 fde485ee-fc50-4398-a1f7-06e84028479a g.chr19:7968910G>T ENST00000545011.1 + 1 146 c.81G>T c.(79-81)agG>agT p.R27S MAP2K7_ENST00000397983.3_Missense_Mutation_p.R27S|MAP2K7_ENST00000397981.3_Missense_Mutation_p.R27S|MAP2K7_ENST00000397979.3_Missense_Mutation_p.R27S O14733 MP2K7_HUMAN mitogen-activated protein kinase kinase 7 27 activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleus ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1) 19 Etoposide(DB00773) CCCGGCGGAGGATCGACCTCA 0.746000 3 2 2.56e-06 2.56e-06 1 1 0 RUNX3 864 broad.mit.edu 37 1 25245770 25245770 + Missense_Mutation SNP C C A TCGA-ZG-A9LM-01A-11D-A41K-08 TCGA-ZG-A9LM-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0645a-3e19-4a87-b182-a77e3ca3eab6 fde485ee-fc50-4398-a1f7-06e84028479a g.chr1:25245770C>A ENST00000399916.1 - 4 985 c.547G>T c.(547-549)Gcc>Tcc p.A183S RUNX3_ENST00000338888.3_Missense_Mutation_p.A183S|RUNX3_ENST00000308873.6_Missense_Mutation_p.A169S|RUNX3_ENST00000540420.1_Missense_Mutation_p.A76S|RUNX3_ENST00000496967.1_5'UTR NM_001031680.2 NP_001026850.1 Q13761 RUNX3_HUMAN runt-related transcription factor 3 169 cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3) 18 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136) ACCTTGATGGCTCGGTGGTAG 0.652000 8 39 1.06961e-07 1.0919e-07 1 1 0 NUP133 55746 broad.mit.edu 37 1 229625797 229625797 + Missense_Mutation SNP G G A TCGA-ZG-A9LM-01A-11D-A41K-08 TCGA-ZG-A9LM-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0645a-3e19-4a87-b182-a77e3ca3eab6 fde485ee-fc50-4398-a1f7-06e84028479a g.chr1:229625797G>A ENST00000261396.3 - 9 1190 c.1099C>T c.(1099-1101)Ctc>Ttc p.L367F NUP133_ENST00000537506.1_Missense_Mutation_p.L351F|NUP133_ENST00000366679.1_Missense_Mutation_p.L367F NM_018230.2 NP_060700.2 Q8WUM0 NU133_HUMAN nucleoporin 133kDa 367 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4) 56 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) TAATAGATGAGACATGGATTG 0.378000 6 49 0 0 1 0 0 ITGAM 3684 broad.mit.edu 37 16 31289353 31289353 + Nonsense_Mutation SNP C C T TCGA-ZG-A9LM-01A-11D-A41K-08 TCGA-ZG-A9LM-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0645a-3e19-4a87-b182-a77e3ca3eab6 fde485ee-fc50-4398-a1f7-06e84028479a g.chr16:31289353C>T ENST00000544665.3 + 12 1350 c.1279C>T c.(1279-1281)Cag>Tag p.Q427* ITGAM_ENST00000287497.8_Nonsense_Mutation_p.Q427* NM_000632.3|NM_001145808.1 NP_000623.2|NP_001139280.1 P11215 ITAM_HUMAN integrin, alpha M (complement component 3 receptor 3 subunit) 427 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 ACCTCGATATCAGCACATCGG 0.572000 4 10 0 0 1 0 0 MET 0 broad.mit.edu 37 7 116435978 116435978 + Missense_Mutation SNP G G A TCGA-ZG-A9LM-01A-11D-A41K-08 TCGA-ZG-A9LM-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0645a-3e19-4a87-b182-a77e3ca3eab6 fde485ee-fc50-4398-a1f7-06e84028479a g.chr7:116435978G>A ENST00000397752.3 + 21 4173 c.3973G>A c.(3973-3975)Gaa>Aaa p.E1325K MET_ENST00000318493.6_Missense_Mutation_p.E1343K|MET_ENST00000539704.1_Missense_Mutation_p.E195K NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene 1325 Interaction with MUC20.|Interaction with RANBP9.|Protein kinase. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding p.E1343K(1) NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) CCCTAAAGCCGAAATGCGCCC 0.433000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 63 59 0 0 1 0 0 C2orf48 348738 broad.mit.edu 37 2 10350581 10350581 + Missense_Mutation SNP G G A TCGA-ZG-A9LM-01A-11D-A41K-08 TCGA-ZG-A9LM-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0645a-3e19-4a87-b182-a77e3ca3eab6 fde485ee-fc50-4398-a1f7-06e84028479a g.chr2:10350581G>A ENST00000381786.3 + 4 627 c.338G>A c.(337-339)aGa>aAa p.R113K NM_182626.2 NP_872432.1 Q96LS8 CB048_HUMAN chromosome 2 open reading frame 48 113 endometrium(1)|lung(7) 8 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.188) CCCTGTTTCAGAATGAAGTTA 0.577000 9 39 0 0 1 0 0 EXOC1 55763 broad.mit.edu 37 4 56726617 56726617 + Silent SNP C C T TCGA-ZG-A9LM-01A-11D-A41K-08 TCGA-ZG-A9LM-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0645a-3e19-4a87-b182-a77e3ca3eab6 fde485ee-fc50-4398-a1f7-06e84028479a g.chr4:56726617C>T ENST00000381295.2 + 3 513 c.165C>T c.(163-165)gtC>gtT p.V55V EXOC1_ENST00000349598.6_Silent_p.V55V|EXOC1_ENST00000346134.7_Silent_p.V55V NM_001024924.1 NP_001020095.1 Q9NV70 EXOC1_HUMAN exocyst complex component 1 55 exocytosis|protein transport exocyst protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 35 Glioma(25;0.08)|all_neural(26;0.101) TGGTCAAAGTCAAGAAATCCG 0.413000 13 55 0 0 1 0 0 FIBIN 387758 broad.mit.edu 37 11 27016184 27016184 + Silent SNP C C T TCGA-ZG-A9LM-01A-11D-A41K-08 TCGA-ZG-A9LM-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0645a-3e19-4a87-b182-a77e3ca3eab6 fde485ee-fc50-4398-a1f7-06e84028479a g.chr11:27016184C>T ENST00000318627.2 + 1 557 c.111C>T c.(109-111)ttC>ttT p.F37F NM_203371.1 NP_976249.1 Q8TAL6 FIBIN_HUMAN fin bud initiation factor homolog (zebrafish) 37 extracellular region|Golgi apparatus breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1) 11 ACCACTACTTCGTGCCCGATG 0.582000 12 24 0 0 1 0 0 GOLGA4 2803 broad.mit.edu 37 3 37366393 37366393 + Missense_Mutation SNP A A G TCGA-ZG-A9LM-01A-11D-A41K-08 TCGA-ZG-A9LM-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0645a-3e19-4a87-b182-a77e3ca3eab6 fde485ee-fc50-4398-a1f7-06e84028479a g.chr3:37366393A>G ENST00000361924.2 + 14 3390 c.3016A>G c.(3016-3018)Atg>Gtg p.M1006V GOLGA4_ENST00000356847.4_Missense_Mutation_p.M1028V|GOLGA4_ENST00000444882.1_Intron NM_002078.4 NP_002069.2 Q13439 GOGA4_HUMAN golgin A4 1006 Glu-rich. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 AATGCTGGAAATGGCACAGGC 0.388000 22 43 0 0 1 0 0 TBC1D3P2 0 broad.mit.edu 37 17 60342197 60342197 + RNA SNP T T C rs76635225 TCGA-ZG-A9LM-01A-11D-A41K-08 TCGA-ZG-A9LM-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0645a-3e19-4a87-b182-a77e3ca3eab6 fde485ee-fc50-4398-a1f7-06e84028479a g.chr17:60342197T>C ENST00000581291.1 - 0 1956 breast(2)|kidney(1)|lung(2) 5 TGGGAGGGGCTGGGCATGGTT 0.488000 3 18 0 0 1 0 0 PMEL 6490 broad.mit.edu 37 12 56355130 56355130 + Missense_Mutation SNP A A T TCGA-ZG-A9LM-01A-11D-A41K-08 TCGA-ZG-A9LM-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0645a-3e19-4a87-b182-a77e3ca3eab6 fde485ee-fc50-4398-a1f7-06e84028479a g.chr12:56355130A>T ENST00000548747.1 - 3 967 c.305T>A c.(304-306)gTt>gAt p.V102D PMEL_ENST00000550447.1_Missense_Mutation_p.V65D|PMEL_ENST00000548493.1_Missense_Mutation_p.V102D|PMEL_ENST00000539511.1_Intron|PMEL_ENST00000449260.2_Missense_Mutation_p.V102D|PMEL_ENST00000550464.1_Intron|PMEL_ENST00000360714.4_Missense_Mutation_p.V102D|PMEL_ENST00000552882.1_Missense_Mutation_p.V102D|PMEL_ENST00000536427.1_Missense_Mutation_p.V102D|PMEL_ENST00000548689.1_5'UTR P40967 PMEL_HUMAN premelanosome protein 102 melanin biosynthetic process|melanosome organization endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane protein binding NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GACCCAGATAACCTGCCCATC 0.483000 27 36 0 0 1 0 0 ITPKB 3707 broad.mit.edu 37 1 226923861 226923861 + Silent SNP G G A TCGA-ZG-A9LM-01A-11D-A41K-08 TCGA-ZG-A9LM-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0645a-3e19-4a87-b182-a77e3ca3eab6 fde485ee-fc50-4398-a1f7-06e84028479a g.chr1:226923861G>A ENST00000429204.1 - 2 1626 c.1299C>T c.(1297-1299)ggC>ggT p.G433G ITPKB_ENST00000366784.1_Silent_p.G433G|ITPKB_ENST00000272117.3_Silent_p.G433G NM_002221.3 NP_002212.3 P27987 IP3KB_HUMAN inositol-trisphosphate 3-kinase B 433 ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1) 30 Prostate(94;0.0773) AACGCCCCCCGCCCACGGGGG 0.706000 14 16 0 0 1 0 0 CCDC157 550631 broad.mit.edu 37 22 30762129 30762129 + Missense_Mutation SNP C C G TCGA-ZG-A9LM-01A-11D-A41K-08 TCGA-ZG-A9LM-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0645a-3e19-4a87-b182-a77e3ca3eab6 fde485ee-fc50-4398-a1f7-06e84028479a g.chr22:30762129C>G ENST00000405659.1 + 3 849 c.140C>G c.(139-141)gCc>gGc p.A47G CCDC157_ENST00000399824.2_Missense_Mutation_p.A47G|CCDC157_ENST00000338306.3_Missense_Mutation_p.A47G Q569K6 CC157_HUMAN coiled-coil domain containing 157 47 central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1) 15 GACCGCATGGCCTGTGACCTC 0.652000 34 72 0 0 1 0 0 METTL13 51603 broad.mit.edu 37 1 171753487 171753487 + Nonsense_Mutation SNP G G A TCGA-ZG-A9LM-01A-11D-A41K-08 TCGA-ZG-A9LM-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0645a-3e19-4a87-b182-a77e3ca3eab6 fde485ee-fc50-4398-a1f7-06e84028479a g.chr1:171753487G>A ENST00000361735.3 + 2 1027 c.761G>A c.(760-762)tGg>tAg p.W254* METTL13_ENST00000458517.1_Nonsense_Mutation_p.W253*|METTL13_ENST00000362019.3_Nonsense_Mutation_p.W168*|METTL13_ENST00000367737.5_Intron NM_015935.4 NP_057019.3 Q8N6R0 MTL13_HUMAN methyltransferase like 13 254 methyltransferase activity|protein binding breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3) 41 CAGTATGCCTGGCTGTGCAGC 0.667000 14 23 0 0 1 0 0 IL24 11009 broad.mit.edu 37 1 207072830 207072830 + Nonsense_Mutation SNP G G A TCGA-ZG-A9LM-01A-11D-A41K-08 TCGA-ZG-A9LM-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0645a-3e19-4a87-b182-a77e3ca3eab6 fde485ee-fc50-4398-a1f7-06e84028479a g.chr1:207072830G>A ENST00000367093.3 + 3 487 c.213G>A c.(211-213)tgG>tgA p.W71* IL24_ENST00000391929.3_Nonsense_Mutation_p.W71*|IL24_ENST00000491169.1_Intron|IL24_ENST00000294984.2_Nonsense_Mutation_p.W70* NM_001185157.1|NM_001185158.1 NP_001172086.1|NP_001172087.1 Q13007 IL24_HUMAN interleukin 24 70 apoptosis extracellular space cytokine activity endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 12 Breast(84;0.201) AGAAACTGTGGGAAGCCTTCT 0.592000 19 58 0 0 1 0 0 NOTCH2 4853 broad.mit.edu 37 1 120612003 120612004 + Frame_Shift_Del DEL GG GG - TCGA-ZG-A9LM-01A-11D-A41K-08 TCGA-ZG-A9LM-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0645a-3e19-4a87-b182-a77e3ca3eab6 fde485ee-fc50-4398-a1f7-06e84028479a g.chr1:120612003_120612004delGG ENST00000256646.2 - 1 236_237 c.17_18delCC c.(16-18)cfs p.P6fs NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 6 anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity p.P6fs*27(2) breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) ACAGCAGAGCGGGGCGCAGGGC 0.762 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 3 6 --- --- --- --- HSPD1P6 0 broad.mit.edu 37 3 36810381 36810381 + RNA DEL T T - TCGA-ZG-A9LM-01A-11D-A41K-08 TCGA-ZG-A9LM-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0645a-3e19-4a87-b182-a77e3ca3eab6 fde485ee-fc50-4398-a1f7-06e84028479a g.chr3:36810381delT ENST00000424886.1 - 0 405 GAGTGAGGCCttttttttttt 0.542 3 6 --- --- --- --- LINC00971 0 broad.mit.edu 37 3 84741413 84741413 + RNA DEL T T - TCGA-ZG-A9LM-01A-11D-A41K-08 TCGA-ZG-A9LM-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0645a-3e19-4a87-b182-a77e3ca3eab6 fde485ee-fc50-4398-a1f7-06e84028479a g.chr3:84741413delT ENST00000484892.1 - 0 2354 NR_033860.1 CTCATGGATGTTTTCCTCCTA 0.398 2 4 --- --- --- --- LINC00969 0 broad.mit.edu 37 3 195400918 195400919 + RNA INS - - T rs55992531 by1000genomes TCGA-ZG-A9LM-01A-11D-A41K-08 TCGA-ZG-A9LM-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0645a-3e19-4a87-b182-a77e3ca3eab6 fde485ee-fc50-4398-a1f7-06e84028479a g.chr3:195400918_195400919insT ENST00000445430.1 + 0 1454 AGTCttttttctttttttttga 0.525 3 6 --- --- --- --- ZFR 51663 broad.mit.edu 37 5 32444350 32444352 + In_Frame_Del DEL GCC GCC - TCGA-ZG-A9LM-01A-11D-A41K-08 TCGA-ZG-A9LM-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0645a-3e19-4a87-b182-a77e3ca3eab6 fde485ee-fc50-4398-a1f7-06e84028479a g.chr5:32444350_32444352delGCC ENST00000265069.8 - 2 222_224 c.120_122delGGC c.(118-123)gct>gc p.AA42del NM_016107.3 NP_057191.2 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 42 Ala-rich. multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2) 32 STAD - Stomach adenocarcinoma(35;0.19) TTGGgccgcagccgccgccgccg 0.680 2 4 --- --- --- --- MYO6 4646 broad.mit.edu 37 6 76599857 76599858 + Frame_Shift_Ins INS - - A TCGA-ZG-A9LM-01A-11D-A41K-08 TCGA-ZG-A9LM-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0645a-3e19-4a87-b182-a77e3ca3eab6 fde485ee-fc50-4398-a1f7-06e84028479a g.chr6:76599857_76599858insA ENST00000369981.3 + 26 3021_3022 c.2742_2743insA c.(2740-2745)caaaaafs p.QK914fs MYO6_ENST00000369985.4_Frame_Shift_Ins_p.QK914fs|MYO6_ENST00000369977.3_Frame_Shift_Ins_p.QK914fs|MYO6_ENST00000369975.1_Frame_Shift_Ins_p.QK914fs Q9UM54 MYO6_HUMAN myosin VI 914 actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding p.K917fs*10(1) breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) GTGCATTACAGAAAAAAAAACA 0.381 7 61 --- --- --- --- DMTF1 9988 broad.mit.edu 37 7 86808992 86808994 + In_Frame_Del DEL GTA GTA - TCGA-ZG-A9LM-01A-11D-A41K-08 TCGA-ZG-A9LM-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0645a-3e19-4a87-b182-a77e3ca3eab6 fde485ee-fc50-4398-a1f7-06e84028479a g.chr7:86808992_86808994delGTA ENST00000394703.5 + 10 1214_1216 c.651_653delGTA c.(649-654)att>at p.MY217del DMTF1_ENST00000331242.7_In_Frame_Del_p.MY217del|DMTF1_ENST00000414194.2_5'UTR|DMTF1_ENST00000413276.2_In_Frame_Del_p.MY217del|DMTF1_ENST00000432937.2_In_Frame_Del_p.MY129del|DMTF1_ENST00000394702.3_In_Frame_Del_p.MY217del|DMTF1_ENST00000411766.2_In_Frame_Del_p.MY176del NM_021145.3 NP_066968.3 Q9Y222 DMTF1_HUMAN cyclin D binding myb-like transcription factor 1 217 Interaction with CCND1, CCND2 and CCND3 (By similarity).|Interaction with CCND2 (By similarity).|Required for DNA-binding (By similarity). cell cycle cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1) 16 Esophageal squamous(14;0.0058) TGCTTCGCATGTATGATGACAGA 0.374 12 101 --- --- --- --- CEP290 80184 broad.mit.edu 37 12 88512275 88512275 + Frame_Shift_Del DEL T T - TCGA-ZG-A9LM-01A-11D-A41K-08 TCGA-ZG-A9LM-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0645a-3e19-4a87-b182-a77e3ca3eab6 fde485ee-fc50-4398-a1f7-06e84028479a g.chr12:88512275delT ENST00000552810.1 - 17 2039 c.1696delA c.(1696-1698)gafs p.R566fs CEP290_ENST00000309041.7_Frame_Shift_Del_p.R568fs|CEP290_ENST00000397838.3_5'UTR NM_025114.3 NP_079390.3 O15078 CE290_HUMAN centrosomal protein 290kDa 566 cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 73 GTTGCACTTCTTTTTCCTCTT 0.299 2 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11058447 11058450 + RNA DEL AAAC AAAC - TCGA-ZG-A9LM-01A-11D-A41K-08 TCGA-ZG-A9LM-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0645a-3e19-4a87-b182-a77e3ca3eab6 fde485ee-fc50-4398-a1f7-06e84028479a g.chr21:11058447_11058450delAAAC ENST00000470054.1 - 0 324 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) GCAAAATATTAAACAAAGGATTCG 0.294 2 4 --- --- --- --- ZFY 7544 broad.mit.edu 37 Y 2844776 2844778 + In_Frame_Del DEL GCA GCA - TCGA-ZG-A9LM-01A-11D-A41K-08 TCGA-ZG-A9LM-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0645a-3e19-4a87-b182-a77e3ca3eab6 fde485ee-fc50-4398-a1f7-06e84028479a g.chrY:2844776_2844778delGCA ENST00000155093.3 + 6 1315_1317 c.994_996delGCA c.(994-996)del p.A337del ZFY_ENST00000431102.1_In_Frame_Del_p.A146del|ZFY_ENST00000449237.1_Intron|ZFY_ENST00000383052.1_In_Frame_Del_p.A337del|ZFY-AS1_ENST00000417305.1_RNA NM_003411.3 NP_003402.2 P08048 ZFY_HUMAN zinc finger protein, Y-linked 337 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding biliary_tract(1)|kidney(3)|large_intestine(1)|lung(3) 8 TGCTGCTGTTGCAGCAGCAGCAG 0.399 2 4 --- --- --- ---