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 KDM1A 23028 broad.mit.edu 37 1 23376958 23376958 + Missense_Mutation SNP T T C TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr1:23376958T>C ENST00000400181.4 + 4 760 c.656T>C c.(655-657)aTt>aCt p.I219T KDM1A_ENST00000542151.1_Missense_Mutation_p.I219T|KDM1A_ENST00000356634.3_Missense_Mutation_p.I199T|RP1-184J9.2_ENST00000427154.1_RNA NM_001009999.2 NP_001009999.1 O60341 KDM1A_HUMAN lysine (K)-specific demethylase 1A 199 SWIRM. blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nuclear chromatin androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 TTTCCAGATATTATCAGTGGA 0.433 5 44 --- --- --- --- CDC7 8317 broad.mit.edu 37 1 91977213 91977213 + Missense_Mutation SNP T T C TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr1:91977213T>C ENST00000428239.1 + 5 654 c.395T>C c.(394-396)aTt>aCt p.I132T CDC7_ENST00000234626.6_Missense_Mutation_p.I132T|CDC7_ENST00000430031.2_Missense_Mutation_p.I104T NM_001134420.1 NP_001127892.1 O00311 CDC7_HUMAN cell division cycle 7 132 Protein kinase. cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase cytoplasm|nucleoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2) 23 all_lung(203;0.0165)|Lung NSC(277;0.0562) all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124) CATGTAGTTATTGCTATGCCA 0.323 5 82 --- --- --- --- APOB 338 broad.mit.edu 37 2 21249774 21249774 + Silent SNP A A G TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr2:21249774A>G ENST00000233242.1 - 15 2257 c.2130T>C c.(2128-2130)ttT>ttC p.F710F APOB_ENST00000399256.4_Silent_p.F710F NM_000384.2 NP_000375 P04114 APOB_HUMAN apolipoprotein B 710 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TGTCTGGGAAAAATCCTTGCT 0.423 9 42 --- --- --- --- IMP4 92856 broad.mit.edu 37 2 131103658 131103658 + Missense_Mutation SNP C C T TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr2:131103658C>T ENST00000259239.3 + 7 1370 c.662C>T c.(661-663)gCa>gTa p.A221V IMP4_ENST00000409935.1_Missense_Mutation_p.A221V NM_033416.1 NP_219484.1 Q96G21 IMP4_HUMAN IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast) 221 Brix. rRNA processing|translation nucleolus|ribonucleoprotein complex aminoacyl-tRNA ligase activity|ATP binding|protein binding central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1) 18 Colorectal(110;0.1) ATCACCTTCGCAAACCAGGAC 0.572 7 22 --- --- --- --- LRP1B 53353 broad.mit.edu 37 2 141571318 141571318 + Missense_Mutation SNP G G A TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr2:141571318G>A ENST00000389484.3 - 32 6238 c.5267C>T c.(5266-5268)aCc>aTc p.T1756I NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1756 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TCTATTTATGGTTCCATTCCC 0.348 TSP Lung(27;0.18) 3 55 --- --- --- --- PER2 8864 broad.mit.edu 37 2 239157852 239157852 + Splice_Site SNP T T G TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr2:239157852T>G ENST00000254657.3 - 22 3748 c.3469A>C c.(3469-3471)Aat>Cat p.N1157H PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA NM_022817.2 NP_073728.1 O15055 PER2_HUMAN period circadian clock 2 1157 CRY binding domain (By similarity). circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) GCTTCTAAATTTCTTCGCAAG 0.393 3 71 --- --- --- --- IGSF10 285313 broad.mit.edu 37 3 151164494 151164494 + Missense_Mutation SNP G G A TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr3:151164494G>A ENST00000282466.3 - 4 3274 c.3275C>T c.(3274-3276)gCt>gTt p.A1092V NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 1092 cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) AGCAATGTCAGCTTTGGGGAA 0.483 10 81 --- --- --- --- PRDM5 11107 broad.mit.edu 37 4 121702371 121702371 + Missense_Mutation SNP C C T TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr4:121702371C>T ENST00000264808.3 - 12 1610 c.1370G>A c.(1369-1371)aGa>aAa p.R457K PRDM5_ENST00000428209.2_Missense_Mutation_p.R426K|PRDM5_ENST00000515109.1_Missense_Mutation_p.R426K NM_018699.2 NP_061169.2 Q9NQX1 PRDM5_HUMAN PR domain containing 5 457 histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 CTTCTTGTGTCTTTCATGAAC 0.393 11 41 --- --- --- --- C6 729 broad.mit.edu 37 5 41201771 41201771 + Missense_Mutation SNP C C G TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr5:41201771C>G ENST00000263413.3 - 3 453 c.189G>C c.(187-189)caG>caC p.Q63H C6_ENST00000337836.5_Missense_Mutation_p.Q63H NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 63 TSP type-1 1. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TGCTGCAAATCTGTTCACAAA 0.423 3 55 --- --- --- --- GPR98 84059 broad.mit.edu 37 5 89981695 89981695 + Missense_Mutation SNP C C T TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr5:89981695C>T ENST00000405460.2 + 29 6469 c.6373C>T c.(6373-6375)Cca>Tca p.P2125S NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 2125 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GCTCTCAGCACCAATTGTCCG 0.433 3 16 --- --- --- --- FAM71B 153745 broad.mit.edu 37 5 156590508 156590508 + Silent SNP C C G TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr5:156590508C>G ENST00000302938.4 - 2 863 c.768G>C c.(766-768)ggG>ggC p.G256G NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 256 Ala-rich. nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CTTCAGCAGCCCCTGGAGTGC 0.582 7 48 --- --- --- --- RSPO3 84870 broad.mit.edu 37 6 127471649 127471649 + Missense_Mutation SNP G G A TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr6:127471649G>A ENST00000356698.4 + 3 957 c.368G>A c.(367-369)gGa>gAa p.G123E RSPO3_ENST00000368317.3_Missense_Mutation_p.G123E|RSPO3_ENST00000485757.1_3'UTR NM_032784.3 NP_116173.2 Q9BXY4 RSPO3_HUMAN R-spondin 3 123 extracellular region heparin binding PTPRK/RSPO3(10) breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1) 17 GBM - Glioblastoma multiforme(226;0.0555) TTACACCTTGGAAAGTGCCTT 0.373 4 51 --- --- --- --- HAS2 3037 broad.mit.edu 37 8 122626638 122626638 + Missense_Mutation SNP G G A TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr8:122626638G>A ENST00000303924.4 - 4 1907 c.1370C>T c.(1369-1371)aCa>aTa p.T457I NM_005328.2 NP_005319.1 Q92819 HAS2_HUMAN hyaluronan synthase 2 457 integral to plasma membrane hyaluronan synthase activity HAS2/PLAG1(10) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1) 38 Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142) STAD - Stomach adenocarcinoma(47;0.00503) TTTGTTTATTGTTGCAATTGC 0.428 9 216 --- --- --- --- TOPORS 10210 broad.mit.edu 37 9 32541842 32541842 + Missense_Mutation SNP T T C TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr9:32541842T>C ENST00000360538.2 - 3 2797 c.2681A>G c.(2680-2682)aAg>aGg p.K894R TOPORS_ENST00000379858.1_Missense_Mutation_p.K829R NM_005802.4 NP_005793.2 Q9NS56 TOPRS_HUMAN topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase 894 Interaction with UBE2I.|Lys-rich. DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent nuclear speck|PML body antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.0018) ATGGTGTttcttatgcttctt 0.373 19 94 --- --- --- --- SEMA4D 10507 broad.mit.edu 37 9 91994252 91994252 + Silent SNP G G A TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr9:91994252G>A ENST00000450295.1 - 16 2732 c.1956C>T c.(1954-1956)ccC>ccT p.P652P SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000356444.2_Silent_p.P652P|SEMA4D_ENST00000438547.2_Silent_p.P652P|SEMA4D_ENST00000422704.2_Silent_p.P652P|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000455551.2_Intron Q92854 SEM4D_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D 652 anti-apoptosis|axon guidance|cell adhesion|immune response integral to membrane|plasma membrane receptor activity|receptor binding p.P652P(1) NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 GGGCCACTACGGGCTTTGGAA 0.557 8 137 --- --- --- --- ABCA1 19 broad.mit.edu 37 9 107547843 107547843 + Missense_Mutation SNP C C T TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr9:107547843C>T ENST00000374736.3 - 49 6873 c.6479G>A c.(6478-6480)gGa>gAa p.G2160E NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 2160 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) AAATGCAAGTCCAAAGAAATC 0.438 4 82 --- --- --- --- KCNC1 3746 broad.mit.edu 37 11 17793787 17793787 + Silent SNP G G A TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr11:17793787G>A ENST00000379472.3 + 2 1176 c.1146G>A c.(1144-1146)acG>acA p.T382T KCNC1_ENST00000265969.6_Silent_p.T382T NM_004976.4 NP_004967.1 P48547 KCNC1_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 1 382 voltage-gated potassium channel complex voltage-gated potassium channel activity p.T382T(1) breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 GTGAGCACACGCACTTTAAGA 0.602 3 37 --- --- --- --- MTMR2 8898 broad.mit.edu 37 11 95571268 95571268 + Missense_Mutation SNP C C G TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr11:95571268C>G ENST00000393223.3 - 15 2029 c.1367G>C c.(1366-1368)aGa>aCa p.R456T MTMR2_ENST00000346299.5_Missense_Mutation_p.R528T|MTMR2_ENST00000409459.1_Missense_Mutation_p.R456T|MTMR2_ENST00000352297.7_Missense_Mutation_p.R456T NM_001243571.1|NM_201278.2 NP_001230500.1|NP_958435.1 Q13614 MTMR2_HUMAN myotubularin related protein 2 528 Myotubularin phosphatase. nucleus inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 19 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) CTCTTTTCCTCTCTGTTGTTC 0.368 6 53 --- --- --- --- FAM155A 728215 broad.mit.edu 37 13 108518235 108518235 + Missense_Mutation SNP C C T TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr13:108518235C>T ENST00000375915.2 - 1 848 c.710G>A c.(709-711)gGg>gAg p.G237E NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 237 integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 ACTGGACAACCCCGAGAACAA 0.537 3 49 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74385943 74385943 + RNA SNP T T A TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr16:74385943T>A ENST00000429810.2 - 0 809 CTCACCATTTTGGGAGGCAGC 0.512 8 39 --- --- --- --- DAPK3 1613 broad.mit.edu 37 19 3964647 3964647 + Silent SNP G G T rs144975421 byFrequency TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr19:3964647G>T ENST00000545797.2 - 3 648 c.405C>A c.(403-405)atC>atA p.I135I DAPK3_ENST00000301264.3_Silent_p.I135I O43293 DAPK3_HUMAN death-associated protein kinase 3 135 Protein kinase. apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade cytoplasm|PML body ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) CAAAGTGTGCGATGCGCTTAG 0.642 13 74 --- --- --- --- ZNF558 148156 broad.mit.edu 37 19 8931882 8931882 + Missense_Mutation SNP T T C TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chr19:8931882T>C ENST00000601372.1 - 7 932 c.221A>G c.(220-222)gAg>gGg p.E74G ZNF558_ENST00000444186.2_Missense_Mutation_p.E3G|ZNF558_ENST00000301475.1_Missense_Mutation_p.E74G Q96NG5 ZN558_HUMAN zinc finger protein 558 74 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 15 CCTGCAGTTCTCCAGCATCAC 0.512 4 28 --- --- --- --- TLR8 51311 broad.mit.edu 37 X 12937492 12937492 + Frame_Shift_Del DEL A A - TCGA-V1-A8MG-01A-11D-A364-08 TCGA-V1-A8MG-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e 335eea2f-41a0-419e-9da3-316bb8514aa2 g.chrX:12937492delA ENST00000218032.6 + 2 420 c.333delA c.(331-333)tcafs p.S111fs TLR8_ENST00000311912.5_Frame_Shift_Del_p.S129fs NM_138636.4 NP_619542.1 Q9NR97 TLR8_HUMAN toll-like receptor 8 111 cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 GTATACAATCAAATGGCTTGA 0.418 22 46 --- --- --- ---