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 CD14 929 broad.mit.edu 37 5 140011718 140011718 + Nonsense_Mutation SNP G G T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr5:140011718G>T ENST00000302014.6 - 2 1480 c.851C>A c.(850-852)tCg>tAg p.S284* CD14_ENST00000401743.2_Nonsense_Mutation_p.S284* NM_000591.3 NP_000582.1 P08571 CD14_HUMAN CD14 molecule 284 apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway anchored to membrane|plasma membrane lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity endometrium(1)|large_intestine(1)|lung(3)|pancreas(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCAGCGAACGACAGATTGAG 0.617000 34 7 1.30998e-17 1.47561e-17 1 1 0 ZNF569 148266 broad.mit.edu 37 19 37916821 37916821 + Nonsense_Mutation SNP C C A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr19:37916821C>A ENST00000316950.6 - 5 744 c.187G>T c.(187-189)Gaa>Taa p.E63* ZNF569_ENST00000589833.1_Nonsense_Mutation_p.E87*|ZNF569_ENST00000592490.1_Intron|ZNF569_ENST00000392150.2_Intron|ZNF569_ENST00000392149.2_Nonsense_Mutation_p.E63* NM_152484.2 NP_689697.2 Q5MCW4 ZN569_HUMAN zinc finger protein 569 63 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GGTTCTTCTTCTTGCTCCAAT 0.448000 38 399 4.67007e-22 5.3217e-22 1 1 0 EIF5B 9669 broad.mit.edu 37 2 99993023 99993023 + Missense_Mutation SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr2:99993023C>T ENST00000289371.6 + 10 1968 c.1766C>T c.(1765-1767)tCa>tTa p.S589L NM_015904.3 NP_056988.3 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GAAATGAGCTCAGATTCTGAA 0.388000 8 80 0 0 1 0 0 GH1 2688 broad.mit.edu 37 17 61995822 61995822 + Missense_Mutation SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr17:61995822G>A ENST00000323322.5 - 2 97 c.55C>T c.(55-57)Ccc>Tcc p.P19S CSHL1_ENST00000392824.4_Intron|GH1_ENST00000342364.4_Missense_Mutation_p.P19S|GH1_ENST00000351388.4_Missense_Mutation_p.P19S|GH1_ENST00000458650.2_Missense_Mutation_p.P19S NM_000515.3 NP_000506.2 P01241 SOMA_HUMAN growth hormone 1 19 glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus extracellular space growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10) 19 TGAAGCCAGGGCAGGCAGAGC 0.612000 63 73 0 0 1 0 0 NBPF12 149013 broad.mit.edu 37 1 146397433 146397433 + Missense_Mutation SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr1:146397433G>A ENST00000442909.2 + 6 1086 c.250G>A c.(250-252)Gag>Aag p.E84K NBPF12_ENST00000309471.8_Intron|NBPF12_ENST00000446760.2_Missense_Mutation_p.E84K neuroblastoma breakpoint family, member 12 ovary(2) 2 GAAGCTTGCAGAGCAGCTGAA 0.532000 12 305 0 0 1 0 0 NPAS4 266743 broad.mit.edu 37 11 66192010 66192010 + Missense_Mutation SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr11:66192010C>T ENST00000311034.2 + 7 1825 c.1649C>T c.(1648-1650)cCa>cTa p.P550L NM_178864.3 NP_849195.2 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 550 transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 CAAACCTTCCCAGAGCAACTG 0.577000 49 66 0 0 1 0 0 KDM6A 7403 broad.mit.edu 37 X 44870230 44870230 + Missense_Mutation SNP G G C TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chrX:44870230G>C ENST00000377967.4 + 5 450 c.409G>C c.(409-411)Ggt>Cgt p.G137R KDM6A_ENST00000536777.1_Missense_Mutation_p.G137R|KDM6A_ENST00000543216.1_Missense_Mutation_p.G137R|KDM6A_ENST00000382899.4_Missense_Mutation_p.G137R NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 137 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0(12)|p.0?(6)|p.?(1) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 ATATGGTCTTGGTTTGGTCTA 0.303000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 16 3 0 0 1 0 0 PCDHA9 9752 broad.mit.edu 37 5 140229608 140229608 + Missense_Mutation SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr5:140229608G>A ENST00000378122.3 + 1 2252 c.1528G>A c.(1528-1530)Gtg>Atg p.V510M PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.V510M|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTACGTGTCAGTGCACGCGGA 0.697000 25 109 0 0 1 0 0 MRPS34 65993 broad.mit.edu 37 16 1822222 1822222 + Silent SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr16:1822222C>T ENST00000177742.3 - 3 708 c.678G>A c.(676-678)taG>taA p.*226* MRPS34_ENST00000397375.2_Silent_p.*219* P82930 RT34_HUMAN mitochondrial ribosomal protein S34 0 mitochondrion|ribosome protein binding breast(1)|skin(2) 3 TTCTGGCATTCTAGACGGGGG 0.567000 28 42 0 0 1 0 0 OSBPL2 9885 broad.mit.edu 37 20 60868959 60868959 + Silent SNP T T C TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr20:60868959T>C ENST00000439951.2 + 13 1482 c.1059T>C c.(1057-1059)ccT>ccC p.P353P OSBPL2_ENST00000313733.3_3'UTR|OSBPL2_ENST00000358053.2_3'UTR|OSBPL2_ENST00000471817.1_3'UTR Q9H1P3 OSBL2_HUMAN oxysterol binding protein-like 2 0 lipid transport lipid binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;1.33e-06) TGGAGGGGCCTGGGGCCCGGG 0.592000 8 60 0 0 1 0 0 OR5C1 392391 broad.mit.edu 37 9 125551798 125551798 + Missense_Mutation SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr9:125551798C>T ENST00000373680.2 + 1 649 c.587C>T c.(586-588)aCc>aTc p.T196I NM_001001923.1 NP_001001923.1 Q8NGR4 OR5C1_HUMAN olfactory receptor, family 5, subfamily C, member 1 196 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1) 20 TGCAGTGACACCAGTCTCAAT 0.552000 4 42 0 0 1 0 0 STXBP5 134957 broad.mit.edu 37 6 147703994 147703994 + Missense_Mutation SNP G G C TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr6:147703994G>C ENST00000367481.3 + 25 3274 c.3166G>C c.(3166-3168)Ggg>Cgg p.G1056R STXBP5_ENST00000321680.6_Missense_Mutation_p.G1092R|STXBP5_ENST00000179882.6_Missense_Mutation_p.G747R|STXBP5_ENST00000367480.3_Missense_Mutation_p.G1039R NM_139244.4 NP_640337.3 Q5T5C0 STXB5_HUMAN syntaxin binding protein 5 (tomosyn) 1092 exocytosis|positive regulation of exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle syntaxin-1 binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 42 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694) AGGCGTAAAAGGGGCAGCATC 0.502000 9 274 0 0 1 0 0 RPL41 6171 broad.mit.edu 37 12 56510574 56510574 + Translation_Start_Site SNP G G C TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr12:56510574G>C ENST00000546591.1 + 1 205 c.3G>C c.(1-3)atG>atC p.M1I RPL41_ENST00000501597.3_Start_Codon_SNP_p.M1I|RPL41_ENST00000552314.1_3'UTR NM_001035267.1 NP_001030344.1 P62945 RL41_HUMAN ribosomal protein L41 1 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit protein binding|RNA binding|structural constituent of ribosome OV - Ovarian serous cystadenocarcinoma(18;0.12) TCTGCGCCATGAGAGCCAAGG 0.517000 97 138 0 0 1 0 0 NBPF12 149013 broad.mit.edu 37 1 146397441 146397441 + Silent SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr1:146397441G>A ENST00000442909.2 + 6 1094 c.258G>A c.(256-258)ctG>ctA p.L86L NBPF12_ENST00000309471.8_Intron|NBPF12_ENST00000446760.2_Silent_p.L86L neuroblastoma breakpoint family, member 12 ovary(2) 2 CAGAGCAGCTGAAACAAGCTG 0.512000 11 300 0 0 1 0 0 MX2 4600 broad.mit.edu 37 21 42779976 42779976 + Missense_Mutation SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr21:42779976G>A ENST00000330714.3 + 14 2148 c.1964G>A c.(1963-1965)cGa>cAa p.R655Q NM_002463.1 NP_002454.1 P20592 MX2_HUMAN myxovirus (influenza virus) resistance 2 (mouse) 655 GED. response to virus|type I interferon-mediated signaling pathway cytoplasm|nucleus GTP binding|GTPase activity breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 34 Prostate(19;1.57e-07)|all_epithelial(19;0.0222) TTTATGCTCCGAGAGAATGGT 0.473000 4 54 0 0 1 0 0 ATXN10 25814 broad.mit.edu 37 22 46136262 46136262 + Silent SNP G G C TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr22:46136262G>C ENST00000252934.5 + 9 1282 c.1017G>C c.(1015-1017)gtG>gtC p.V339V ATXN10_ENST00000381061.4_Silent_p.V275V NM_013236.3 NP_037368.1 Q9UBB4 ATX10_HUMAN ataxin 10 339 cell death|neuron projection development dendrite|neuronal cell body|perinuclear region of cytoplasm central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 10 Ovarian(80;0.00973)|all_neural(38;0.0417) UCEC - Uterine corpus endometrioid carcinoma (28;0.0223) TTTTGCGGGTGATTCATGTAG 0.363000 10 84 0 0 1 0 0 SREBF2 6721 broad.mit.edu 37 22 42269859 42269859 + Missense_Mutation SNP G G C TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr22:42269859G>C ENST00000361204.4 + 5 1091 c.925G>C c.(925-927)Gag>Cag p.E309Q NM_004599.2 NP_004590.2 Q12772 SRBP2_HUMAN sterol regulatory element binding transcription factor 2 309 Interaction with LMNA (By similarity). cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex protein C-terminus binding NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 GATGGGGCAAGAGAAAGTGCC 0.502000 19 18 0 0 1 0 0 VIT 5212 broad.mit.edu 37 2 37014335 37014335 + Missense_Mutation SNP G G T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr2:37014335G>T ENST00000379242.3 + 12 1276 c.974G>T c.(973-975)cGa>cTa p.R325L VIT_ENST00000404084.1_Missense_Mutation_p.R262L|VIT_ENST00000401530.1_Missense_Mutation_p.R289L|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000379241.3_Missense_Mutation_p.R288L|VIT_ENST00000389975.3_Missense_Mutation_p.R310L NM_053276.3 NP_444506.2 Q6UXI7 VITRN_HUMAN vitrin 310 VWFA 1. proteinaceous extracellular matrix autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_hematologic(82;0.248) CGGCGATTCCGAATCCAGAAG 0.483000 4 54 0.150653 0.151168 1 1 0 CNGA2 1260 broad.mit.edu 37 X 150909295 150909295 + Missense_Mutation SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chrX:150909295C>T ENST00000329903.4 + 4 437 c.404C>T c.(403-405)cCa>cTa p.P135L NM_005140.1 NP_005131.1 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 135 response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2) 49 Acute lymphoblastic leukemia(192;6.56e-05) GTCTTGGACCCAGCTGGGGAT 0.542000 104 22 0 0 1 0 0 IGHA1 3493 broad.mit.edu 37 14 106174189 106174189 + RNA SNP C C G TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr14:106174189C>G ENST00000390547.2 - 0 599 AAGTGAAGGTCTTCCCATGGT 0.632000 3 21 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105413624 105413624 + Missense_Mutation SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr14:105413624G>A ENST00000333244.5 - 7 8283 c.8164C>T c.(8164-8166)Ccc>Tcc p.P2722S AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2722 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GCTCCCTCGGGAACGTGGCCC 0.602000 9 138 0 0 1 0 0 ZNF470 388566 broad.mit.edu 37 19 57088575 57088575 + Missense_Mutation SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr19:57088575G>A ENST00000330619.8 + 6 1464 c.778G>A c.(778-780)Gaa>Aaa p.E260K ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.E260K NM_001001668.3 NP_001001668.3 Q6ECI4 ZN470_HUMAN zinc finger protein 470 260 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 41 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0294) TGAATGTATTGAATGTGGAAA 0.383000 10 98 0 0 1 0 0 CHSY1 22856 broad.mit.edu 37 15 101717593 101717593 + Nonstop_Mutation SNP T T G TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr15:101717593T>G ENST00000254190.3 - 3 2884 c.2409A>C c.(2407-2409)taA>taC p.*803Y CHSY1_ENST00000543813.1_5'UTR NM_014918.4 NP_055733.2 Q86X52 CHSS1_HUMAN chondroitin sulfate synthase 1 0 chondroitin sulfate biosynthetic process Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1) 24 Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) AAGCTGGACATTAGGCTGTCC 0.363000 5 67 0 0 1 0 0 CBFA2T2 9139 broad.mit.edu 37 20 32207403 32207403 + Silent SNP A A G TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr20:32207403A>G ENST00000492345.1 + 6 1126 c.441A>G c.(439-441)ccA>ccG p.P147P CBFA2T2_ENST00000397798.2_Silent_p.P147P|CBFA2T2_ENST00000359606.3_Silent_p.P186P|CBFA2T2_ENST00000346541.3_Silent_p.P176P|CBFA2T2_ENST00000375279.2_Silent_p.P176P|CBFA2T2_ENST00000344201.3_Silent_p.P147P|CBFA2T2_ENST00000342704.6_Silent_p.P167P|CBFA2T2_ENST00000397800.1_Silent_p.P147P|CBFA2T2_ENST00000491618.1_3'UTR O43439 MTG8R_HUMAN core-binding factor, runt domain, alpha subunit 2; translocated to, 2 176 TAFH. nucleus protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2) 20 TTGTGATTCCATTTCTCAAGG 0.353000 16 23 0 0 1 0 0 GMIP 51291 broad.mit.edu 37 19 19744922 19744922 + Missense_Mutation SNP G G A rs146830752 by1000genomes TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr19:19744922G>A ENST00000203556.4 - 19 2299 c.2162C>T c.(2161-2163)cCg>cTg p.P721L GMIP_ENST00000445806.2_Missense_Mutation_p.P692L|GMIP_ENST00000587238.1_Missense_Mutation_p.P695L|GMIP_ENST00000586269.1_5'UTR NM_016573.2 NP_057657.2 Q9P107 GMIP_HUMAN GEM interacting protein 721 Rho-GAP. negative regulation of Rho GTPase activity|small GTPase mediated signal transduction cytosol metal ion binding|protein binding|Rho GTPase activator activity breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 GCCGTCCGGCGGCCGCAGCAG 0.612000 3 31 0 0 1 0 0 ZNF599 148103 broad.mit.edu 37 19 35250196 35250196 + Missense_Mutation SNP C C G TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr19:35250196C>G ENST00000329285.8 - 4 1883 c.1510G>C c.(1510-1512)Gag>Cag p.E504Q NM_001007248.2 NP_001007249.1 Q96NL3 ZN599_HUMAN zinc finger protein 599 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1) 24 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) TAGGGCTTCTCTCCAGTGTGA 0.428000 8 133 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29679318 29679318 + Nonsense_Mutation SNP G G T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr17:29679318G>T ENST00000358273.4 + 51 7884 c.7501G>T c.(7501-7503)Gaa>Taa p.E2501* NF1_ENST00000444181.2_Nonsense_Mutation_p.E294*|NF1_ENST00000417592.2_Intron|NF1_ENST00000356175.3_Nonsense_Mutation_p.E2480* NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 2501 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(3)|p.E2501fs*22(1) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) CAAAGGTTCTGAAGGATACCT 0.483000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 12 77 4.93089e-13 5.4705e-13 1 1 0 RNF128 79589 broad.mit.edu 37 X 106034371 106034371 + Missense_Mutation SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chrX:106034371G>A ENST00000255499.2 + 6 1310 c.1060G>A c.(1060-1062)Gaa>Aaa p.E354K RNF128_ENST00000324342.3_Missense_Mutation_p.E328K NM_194463.1 NP_919445.1 Q8TEB7 RN128_HUMAN ring finger protein 128, E3 ubiquitin protein ligase 354 endomembrane system|integral to membrane|perinuclear region of cytoplasm zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1) 11 CTCCTCCCATGAAGAGGATAA 0.433000 5 76 0 0 1 0 0 ASH1L 55870 broad.mit.edu 37 1 155348324 155348324 + Missense_Mutation SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr1:155348324C>T ENST00000368346.3 - 9 6847 c.6208G>A c.(6208-6210)Gat>Aat p.D2070N ASH1L_ENST00000392403.3_Missense_Mutation_p.D2065N Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 2070 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) AGTGGGACATCTGGCTTTTTG 0.338000 10 78 0 0 1 0 0 MAEA 10296 broad.mit.edu 37 4 1326633 1326633 + Missense_Mutation SNP A A T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr4:1326633A>T ENST00000303400.4 + 6 808 c.745A>T c.(745-747)Acg>Tcg p.T249S MAEA_ENST00000505839.1_Missense_Mutation_p.T201S|MAEA_ENST00000505177.2_Missense_Mutation_p.T287S|MAEA_ENST00000514708.1_Missense_Mutation_p.H182L|MAEA_ENST00000510794.1_Missense_Mutation_p.T248S|MAEA_ENST00000452175.2_Missense_Mutation_p.T170S|MAEA_ENST00000264750.6_Missense_Mutation_p.T208S|MAEA_ENST00000512289.1_3'UTR NM_001017405.1 NP_001017405.1 Q7L5Y9 MAEA_HUMAN macrophage erythroblast attacher 249 cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle actin binding NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(23;0.0201) CCCGCCCGACACGCACATCTC 0.607000 3 16 0 0 1 0 0 ITGA9 3680 broad.mit.edu 37 3 37550074 37550074 + Silent SNP A A C TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr3:37550074A>C ENST00000264741.5 + 8 1109 c.853A>C c.(853-855)Aga>Cga p.R285R ITGA9_ENST00000422441.1_Silent_p.R285R NM_002207.2 NP_002198.2 Q13797 ITA9_HUMAN integrin, alpha 9 285 axon guidance|cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1) 44 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) AGCTGACCGAAGATCAGGCAC 0.343000 20 12 0 0 1 0 0 HEATR4 399671 broad.mit.edu 37 14 73980889 73980889 + Silent SNP G G C TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr14:73980889G>C ENST00000553558.1 - 6 1581 c.1260C>G c.(1258-1260)ccC>ccG p.P420P HEATR4_ENST00000560393.1_Silent_p.P373P|HEATR4_ENST00000334988.2_Silent_p.P420P NM_001220484.1 NP_001207413.1 HEAT repeat containing 4 breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719) TATCCTTGGCGGGGGTGGGCA 0.567000 4 19 0 0 1 0 0 ATP1A4 480 broad.mit.edu 37 1 160136418 160136418 + Missense_Mutation SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr1:160136418C>T ENST00000368081.4 + 8 1619 c.1148C>T c.(1147-1149)tCa>tTa p.S383L NM_144699.3 NP_653300.2 Q13733 AT1A4_HUMAN ATPase, Na+/K+ transporting, alpha 4 polypeptide 383 ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 75 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) ACCATCTGCTCAGACAAGACG 0.602000 4 140 0 0 1 0 0 WRAP53 55135 broad.mit.edu 37 17 7604997 7604997 + Missense_Mutation SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr17:7604997C>T ENST00000316024.5 + 6 3193 c.845C>T c.(844-846)tCg>tTg p.S282L WRAP53_ENST00000457584.2_Missense_Mutation_p.S282L|WRAP53_ENST00000396463.2_Missense_Mutation_p.S282L|WRAP53_ENST00000431639.2_Missense_Mutation_p.S282L|WRAP53_ENST00000534050.1_Missense_Mutation_p.S249L Q9BUR4 WAP53_HUMAN WD repeat containing, antisense to TP53 282 positive regulation of telomerase activity|telomere formation via telomerase Cajal body|cytoplasm|telomerase holoenzyme complex protein binding|RNA binding endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2) 18 GCAGCCCATTCGCTCTGCTTC 0.617000 10 96 0 0 1 0 0 C1orf198 84886 broad.mit.edu 37 1 230979603 230979603 + Missense_Mutation SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr1:230979603C>T ENST00000366663.5 - 3 564 c.424G>A c.(424-426)Gag>Aag p.E142K C1orf198_ENST00000427697.2_5'UTR|C1orf198_ENST00000470540.1_Missense_Mutation_p.E104K|C1orf198_ENST00000523410.1_Missense_Mutation_p.E12K NM_032800.2 NP_116189.1 Q9H425 CA198_HUMAN chromosome 1 open reading frame 198 142 breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 17 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) TTGCTCGGCTCCTGGATGGAT 0.582000 21 105 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227896872 227896872 + Missense_Mutation SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr2:227896872C>T ENST00000396625.3 - 39 3905 c.3698G>A c.(3697-3699)gGa>gAa p.G1233E COL4A4_ENST00000329662.7_Missense_Mutation_p.G1233E NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 1233 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) ACCTGGGGGTCCTGGGGGACC 0.507000 9 50 0 0 1 0 0 MYO19 80179 broad.mit.edu 37 17 34856954 34856954 + Silent SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr17:34856954G>A ENST00000431794.3 - 22 2724 c.2202C>T c.(2200-2202)gcC>gcT p.A734A MYO19_ENST00000268852.9_Silent_p.A534A NM_001163735.1 NP_001157207.1 Q96H55 MYO19_HUMAN myosin XIX 734 mitochondrial outer membrane|myosin complex actin binding|ATP binding|motor activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1) 20 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) AGTGCATGGGGGCTGGCATGG 0.567000 5 130 0 0 1 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20475836 20475836 + Silent SNP G G C TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr20:20475836G>C ENST00000202677.7 - 36 5299 c.5292C>G c.(5290-5292)gcC>gcG p.A1764A NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) Rap-GAP. activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 CATCTCCAAAGGCAGTTGGGA 0.438000 6 118 0 0 1 0 0 CEP192 55125 broad.mit.edu 37 18 13049120 13049120 + Missense_Mutation SNP A A G TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr18:13049120A>G ENST00000506447.1 + 16 2410 c.2330A>G c.(2329-2331)aAt>aGt p.N777S CEP192_ENST00000325971.8_Missense_Mutation_p.N181S|CEP192_ENST00000430049.2_Missense_Mutation_p.N302S NM_032142.3 NP_115518.3 B7ZMF0 B7ZMF0_HUMAN centrosomal protein 192kDa 372 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 AATGGATCCAATGCACTTGAT 0.338000 8 27 0 0 1 0 0 UMPS 7372 broad.mit.edu 37 3 124449459 124449459 + Silent SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr3:124449459G>A ENST00000232607.2 + 1 247 c.141G>A c.(139-141)ccG>ccA p.P47P UMPS_ENST00000413078.2_5'UTR|UMPS_ENST00000538242.1_5'UTR|UMPS_ENST00000536109.1_5'UTR NM_000373.3 NP_000364.1 P11172 UMPS_HUMAN uridine monophosphate synthetase 47 OPRTase. 'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process cytosol|nucleus orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 16 GBM - Glioblastoma multiforme(114;0.146) TGTCTCGACCGCGTCTTCTGA 0.587000 3 39 0 0 1 0 0 PRKCE 5581 broad.mit.edu 37 2 46228632 46228632 + Missense_Mutation SNP G G T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr2:46228632G>T ENST00000306156.3 + 7 1240 c.913G>T c.(913-915)Gac>Tac p.D305Y PRKCE_ENST00000394874.1_Missense_Mutation_p.D28Y NM_005400.2 NP_005391.1 Q02156 KPCE_HUMAN protein kinase C, epsilon 305 activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation cytosol|endoplasmic reticulum|plasma membrane ATP binding|enzyme activator activity|metal ion binding|signal transducer activity MBOAT2/PRKCE(2) breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2) 34 all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209) LUSC - Lung squamous cell carcinoma(58;0.171) AGTACTGGCCGACCTGGGCGT 0.527000 31 22 1.06801e-11 1.18043e-11 1 1 0 ZCCHC8 55596 broad.mit.edu 37 12 122958142 122958142 + Missense_Mutation SNP C C G TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr12:122958142C>G ENST00000543897.1 - 12 3667 c.1312G>C c.(1312-1314)Gag>Cag p.E438Q ZCCHC8_ENST00000336229.4_Missense_Mutation_p.E676Q|ZCCHC8_ENST00000538116.1_Missense_Mutation_p.E287Q|ZCCHC8_ENST00000536306.1_Missense_Mutation_p.E438Q Q6NZY4 ZCHC8_HUMAN zinc finger, CCHC domain containing 8 676 catalytic step 2 spliceosome nucleic acid binding|protein binding|zinc ion binding endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 23 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202) GCCATATTCTCAAATTCAAAT 0.423000 4 85 0 0 1 0 0 AP2A2 161 broad.mit.edu 37 11 984716 984716 + Silent SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr11:984716C>T ENST00000448903.2 + 7 918 c.777C>T c.(775-777)gtC>gtT p.V259V AP2A2_ENST00000534328.1_Silent_p.V259V|AP2A2_ENST00000332231.5_Silent_p.V259V NM_001242837.1|NM_012305.3 NP_001229766.1|NP_036437.1 O94973 AP2A2_HUMAN adaptor-related protein complex 2, alpha 2 subunit 259 axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction AP-2 adaptor complex|cytosol lipid binding|protein transporter activity breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2) 21 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082) GGCTGTCTGTCAAACTGCTGA 0.557000 25 87 0 0 1 0 0 FGFR3 2261 broad.mit.edu 37 4 1806089 1806089 + Missense_Mutation SNP G G T rs121913479 TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr4:1806089G>T ENST00000340107.4 + 9 1370 c.1114G>T c.(1114-1116)Ggc>Tgc p.G372C FGFR3_ENST00000260795.2_Missense_Mutation_p.G370C|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000440486.2_Missense_Mutation_p.G370C|FGFR3_ENST00000481110.2_Missense_Mutation_p.G370C|FGFR3_ENST00000352904.1_Intron NM_001163213.1 NP_001156685.1 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 370 bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding p.G370C(108)|p.A369_G370>VC(1) NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607) 3091 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) TGACGAGGCGGGCAGTGTGTA 0.687000 1 """Mis, T""" """IGH@, ETV6""" """bladder, MM, T-cell lymphoma""" """Hypochondroplasia, Thanatophoric dysplasia""" Saethre-Chotzen syndrome;Muenke syndrome 71 47 9.13743e-30 1.04938e-29 1 1 0 LMO7 4008 broad.mit.edu 37 13 76374861 76374861 + Missense_Mutation SNP C C A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr13:76374861C>A ENST00000357063.3 + 8 1920 c.660C>A c.(658-660)gaC>gaA p.D220E RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000321797.8_5'UTR|LMO7_ENST00000377534.3_Missense_Mutation_p.D220E|LMO7_ENST00000341547.4_Missense_Mutation_p.D220E|LMO7_ENST00000526202.1_Missense_Mutation_p.D129E Q8WWI1 LMO7_HUMAN LIM domain 7 220 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) GTGGCAGGGACAGTGGCTACG 0.408000 9 94 0.000442599 0.000464729 1 1 0 GTF2I 2969 broad.mit.edu 37 7 74114641 74114641 + Silent SNP G G T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr7:74114641G>T ENST00000324896.4 + 5 827 c.438G>T c.(436-438)tcG>tcT p.S146S GTF2I_ENST00000346152.4_Silent_p.S146S|AC083884.8_ENST00000594967.1_RNA|GTF2I_ENST00000443166.1_Silent_p.S146S|AC083884.8_ENST00000450426.2_RNA|AC083884.8_ENST00000434256.1_RNA|GTF2I_ENST00000416070.1_Silent_p.S146S|GTF2I_ENST00000353920.4_Silent_p.S146S NM_032999.2 NP_127492.1 P78347 GTF2I_HUMAN general transcription factor IIi 146 negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 GAGACCAGTCGGCTGTGGTAG 0.488000 13 135 6.72482e-11 7.40486e-11 1 1 0 MCM7 4176 broad.mit.edu 37 7 99695910 99695910 + Missense_Mutation SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr7:99695910C>T ENST00000303887.5 - 7 1369 c.724G>A c.(724-726)Gat>Aat p.D242N MCM7_ENST00000354230.3_Missense_Mutation_p.D66N|MCM7_ENST00000343023.6_Missense_Mutation_p.D242N NM_005916.3 NP_005907.3 P33993 MCM7_HUMAN minichromosome maintenance complex component 7 242 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|protein binding endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1) 17 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Atorvastatin(DB01076) GGCACCTGATCACTCTAGGGG 0.557000 14 11 0 0 1 0 0 ZNF408 79797 broad.mit.edu 37 11 46724276 46724276 + Missense_Mutation SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr11:46724276G>A ENST00000311764.2 + 3 583 c.353G>A c.(352-354)gGa>gAa p.G118E NM_001184751.1|NM_024741.2 NP_001171680.1|NP_079017.1 Q9H9D4 ZN408_HUMAN zinc finger protein 408 118 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GGCCCATGGGGAGACGTGTGT 0.463000 10 78 0 0 1 0 0 WTAP 9589 broad.mit.edu 37 6 160169389 160169389 + Missense_Mutation SNP T T G TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr6:160169389T>G ENST00000358372.4 + 6 2197 c.440T>G c.(439-441)tTt>tGt p.F147C WTAP_ENST00000337387.4_Missense_Mutation_p.F147C|SOD2_ENST00000546087.1_Intron NM_001270531.1|NM_004906.4 NP_001257460.1|NP_004897.2 Q15007 FL2D_HUMAN Wilms tumor 1 associated protein 147 cell cycle|mRNA processing|RNA splicing nuclear membrane|nucleolus p.F147S(1) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 18 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06) GCCTGGAAGTTTACGCCTGAT 0.458000 15 4 0 0 1 0 0 LPHN3 23284 broad.mit.edu 37 4 62599226 62599226 + Silent SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr4:62599226C>T ENST00000512091.2 + 7 1896 c.1149C>T c.(1147-1149)caC>caT p.H383H LPHN3_ENST00000506746.1_Silent_p.H451H|LPHN3_ENST00000507164.1_Silent_p.H451H|LPHN3_ENST00000545650.1_Silent_p.H383H|LPHN3_ENST00000508946.1_Silent_p.H383H|LPHN3_ENST00000504896.1_Silent_p.H383H|LPHN3_ENST00000511324.1_Silent_p.H451H|LPHN3_ENST00000508693.1_Silent_p.H451H|LPHN3_ENST00000506720.1_Silent_p.H451H|LPHN3_ENST00000514157.1_Silent_p.H383H|LPHN3_ENST00000506700.1_Silent_p.H383H|LPHN3_ENST00000514591.1_Silent_p.H383H|LPHN3_ENST00000514996.1_Silent_p.H383H|LPHN3_ENST00000509896.1_Silent_p.H451H|LPHN3_ENST00000507625.1_Silent_p.H451H Q9HAR2 LPHN3_HUMAN latrophilin 3 Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 ATAACTATCACGTCGTGAAAT 0.388000 4 21 0 0 1 0 0 CDH8 1006 broad.mit.edu 37 16 61854890 61854890 + Silent SNP T T A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr16:61854890T>A ENST00000577390.1 - 6 1917 c.963A>T c.(961-963)acA>acT p.T321T CDH8_ENST00000577730.1_Silent_p.T321T|CDH8_ENST00000584337.1_Silent_p.T321T|CDH8_ENST00000299345.6_Silent_p.T321T NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 321 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) CAAAAAGTGCTGTTCCATCTC 0.408000 4 41 0 0 1 0 0 CASP3 836 broad.mit.edu 37 4 185550477 185550477 + Silent SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr4:185550477C>T ENST00000308394.4 - 8 1045 c.783G>A c.(781-783)caG>caA p.Q261Q CASP3_ENST00000517513.1_3'UTR|CASP3_ENST00000393585.2_3'UTR|CASP3_ENST00000523916.1_Silent_p.Q261Q NM_004346.3 NP_004337.2 P42574 CASP3_HUMAN caspase 3, apoptosis-related cysteine peptidase 261 activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor cytosol|mitochondrion|nucleoplasm|plasma membrane cysteine-type endopeptidase activity|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1) 12 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592) all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161) Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641) TACATGGAATCTGTTTCTTTG 0.368000 21 84 0 0 1 0 0 LILRA6 79168 broad.mit.edu 37 19 54744845 54744845 + Missense_Mutation SNP G G T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr19:54744845G>T ENST00000440558.2 - 5 865 c.817C>A c.(817-819)Cag>Aag p.Q273K LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000419410.2_Missense_Mutation_p.Q273K|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000245621.5_Missense_Mutation_p.Q273K|LILRA6_ENST00000396365.2_Missense_Mutation_p.Q273K leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6 central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2) 38 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) AGCCCAGCCTGGGGCTGCTGG 0.632000 4 78 0.00024832 0.000262612 1 1 0 NACA 4666 broad.mit.edu 37 12 57110801 57110801 + Missense_Mutation SNP G G C TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr12:57110801G>C ENST00000454682.1 - 3 4794 c.4513C>G c.(4513-4515)Ctg>Gtg p.L1505V NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 ACAGCTGGCAGAGTGGGGGCC 0.597000 T BCL6 NHL 6 49 0 0 1 0 0 HIST1H1C 3006 broad.mit.edu 37 6 26056117 26056117 + Silent SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr6:26056117C>T ENST00000343677.2 - 1 582 c.540G>A c.(538-540)gcG>gcA p.A180A NM_005319.3 NP_005310.1 P16403 H12_HUMAN histone cluster 1, H1c 180 nucleosome assembly nucleosome|nucleus DNA binding p.A180A(2) NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 34 TCTTGGGCTTCGCAACCTTGG 0.542000 47 64 0 0 1 0 0 ALG10 84920 broad.mit.edu 37 12 34175643 34175643 + Missense_Mutation SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr12:34175643G>A ENST00000266483.2 + 1 428 c.109G>A c.(109-111)Gac>Aac p.D37N ALG10_ENST00000538927.1_Missense_Mutation_p.D37N|RP11-847H18.2_ENST00000501954.2_RNA NM_032834.3 NP_116223.3 Q5BKT4 AG10A_HUMAN ALG10, alpha-1,2-glucosyltransferase 37 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 26 Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429) Lung NSC(34;0.204)|all_lung(34;0.235) GCCCTACATGGACGAGATCTT 0.602000 27 130 0 0 1 0 0 SPEF2 79925 broad.mit.edu 37 5 35628646 35628646 + Missense_Mutation SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr5:35628646C>T ENST00000440995.2 + 2 143 c.143C>T c.(142-144)tCa>tTa p.S48L SPEF2_ENST00000282469.6_Missense_Mutation_p.S48L|SPEF2_ENST00000509059.1_Missense_Mutation_p.S48L|SPEF2_ENST00000356031.3_Missense_Mutation_p.S48L Q9C093 SPEF2_HUMAN sperm flagellar 2 48 CH. nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GATGATTTTTCAGAATTTTTG 0.368000 10 42 0 0 1 0 0 KIT 3815 broad.mit.edu 37 4 55589838 55589838 + Nonsense_Mutation SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr4:55589838G>A ENST00000288135.5 + 8 1417 c.1320G>A c.(1318-1320)tgG>tgA p.W440* NM_000222.2|NM_001093772.1 NP_000213.1|NP_001087241.1 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog 440 Ig-like C2-type 5. male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1) 6411 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) CAATAGATTGGTATTTTTGTC 0.438000 1 """Mis, O""" """GIST, AML, TGCT, mastocytosis, mucosal melanoma""" """GIST, epithelioma""" Piebald trait Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors 6 31 0 0 1 0 0 AMBRA1 55626 broad.mit.edu 37 11 46563514 46563514 + Missense_Mutation SNP C C G TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr11:46563514C>G ENST00000458649.2 - 7 2471 c.2053G>C c.(2053-2055)Gag>Cag p.E685Q AMBRA1_ENST00000533727.1_Missense_Mutation_p.E595Q|AMBRA1_ENST00000528950.1_Missense_Mutation_p.E685Q|AMBRA1_ENST00000298834.3_Missense_Mutation_p.E685Q|AMBRA1_ENST00000534300.1_Missense_Mutation_p.E685Q|AMBRA1_ENST00000314845.3_Missense_Mutation_p.E595Q|AMBRA1_ENST00000426438.1_Missense_Mutation_p.E685Q Q9C0C7 AMRA1_HUMAN autophagy/beclin-1 regulator 1 685 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 39 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) GAATCCTCCTCAGAGCTCTCC 0.493000 13 61 0 0 1 0 0 GRIK5 2901 broad.mit.edu 37 19 42566715 42566715 + Missense_Mutation SNP C C A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr19:42566715C>A ENST00000262895.3 - 4 432 c.433G>T c.(433-435)Gtc>Ttc p.V145F GRIK5_ENST00000593562.1_Missense_Mutation_p.V145F|GRIK5_ENST00000301218.4_Missense_Mutation_p.V145F NM_002088.4 NP_002079.3 Q16478 GRIK5_HUMAN glutamate receptor, ionotropic, kainate 5 145 cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 35 Prostate(69;0.059) L-Glutamic Acid(DB00142) GCCAAGCTGACGTCCTCGTTA 0.582000 16 84 3.32936e-07 3.61192e-07 1 1 0 DDX52 11056 broad.mit.edu 37 17 36002258 36002258 + Missense_Mutation SNP G G A rs139568647 TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr17:36002258G>A ENST00000349699.2 - 2 210 c.167C>T c.(166-168)cCa>cTa p.P56L DDX52_ENST00000394367.3_5'UTR NM_007010.3 NP_008941.2 Q9Y2R4 DDX52_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 52 56 nucleolus ATP binding|ATP-dependent helicase activity|RNA binding biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3) 17 Breast(25;0.00637)|Ovarian(249;0.15) ACACACACCTGGGACAGACTT 0.408000 12 83 0 0 1 0 0 IL19 29949 broad.mit.edu 37 1 207014375 207014375 + Silent SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr1:207014375G>A ENST00000270218.6 + 6 1329 c.390G>A c.(388-390)agG>agA p.R130R IL19_ENST00000340758.2_Silent_p.R168R NM_013371.3 NP_037503.2 Q9UHD0 IL19_HUMAN interleukin 19 130 apoptosis|immune response|signal transduction extracellular space cytokine activity central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1) 7 BRCA - Breast invasive adenocarcinoma(75;0.211) GTCACTGCAGGCAGGAAGCCA 0.517000 27 14 0 0 1 0 0 BMP1 649 broad.mit.edu 37 8 22034630 22034630 + Silent SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr8:22034630C>T ENST00000306385.5 + 5 1378 c.708C>T c.(706-708)atC>atT p.I236I BMP1_ENST00000397816.3_Silent_p.I236I|BMP1_ENST00000354870.5_Silent_p.I236I|BMP1_ENST00000306349.8_Silent_p.I236I|BMP1_ENST00000397814.3_Silent_p.I236I NM_006129.4 NP_006120.1 P13497 BMP1_HUMAN bone morphogenetic protein 1 236 Metalloprotease. cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis extracellular space calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3) 30 Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11) ACGTTTCCATCGTTCGTGAGA 0.662000 3 5 0 0 1 0 0 PEX3 8504 broad.mit.edu 37 6 143810346 143810346 + Nonsense_Mutation SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr6:143810346C>T ENST00000367591.4 + 12 1168 c.1105C>T c.(1105-1107)Cag>Tag p.Q369* RP1-20N2.6_ENST00000591892.1_RNA NM_003630.2 NP_003621.1 P56589 PEX3_HUMAN peroxisomal biogenesis factor 3 369 protein import into peroxisome membrane|transmembrane transport integral to peroxisomal membrane protein binding endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2) 18 OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117) TAGTACCCCTCAGCAACTGGA 0.343000 9 133 0 0 1 0 0 HERC6 55008 broad.mit.edu 37 4 89317230 89317230 + Missense_Mutation SNP G G C TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr4:89317230G>C ENST00000380265.5 + 6 1006 c.823G>C c.(823-825)Gag>Cag p.E275Q HERC6_ENST00000264346.7_Missense_Mutation_p.E275Q|HERC6_ENST00000273960.3_Missense_Mutation_p.E275Q NM_001165136.1 NP_001158608.1 Q8IVU3 HERC6_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 275 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytosol ubiquitin-protein ligase activity endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1) 11 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000222) CCCCACTCCTGAGAAGAGAGG 0.433000 14 44 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186123062 186123062 + Missense_Mutation SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr1:186123062G>A ENST00000271588.4 + 97 15428 c.15199G>A c.(15199-15201)Gac>Aac p.D5067N HMCN1_ENST00000367492.2_Missense_Mutation_p.D5067N NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 5067 Nidogen G2 beta-barrel. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 TGTGGAATCTGACTATAACCA 0.393000 3 19 0 0 1 0 0 USP5 8078 broad.mit.edu 37 12 6965239 6965239 + Silent SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr12:6965239G>A ENST00000229268.8 + 4 415 c.363G>A c.(361-363)aaG>aaA p.K121K USP5_ENST00000389231.5_Silent_p.K121K NM_001098536.1 NP_001092006.1 P45974 UBP5_HUMAN ubiquitin specific peptidase 5 (isopeptidase T) 121 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process lysosome cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2) 36 AGGATGTGAAGATTGTCATTT 0.502000 5 200 0 0 1 0 0 PFAS 5198 broad.mit.edu 37 17 8158359 8158359 + Missense_Mutation SNP C C A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr17:8158359C>A ENST00000314666.6 + 4 426 c.293C>A c.(292-294)aCc>aAc p.T98N PFAS_ENST00000545834.1_5'UTR NM_012393.2 NP_036525.1 O15067 PUR4_HUMAN phosphoribosylformylglycinamidine synthase 98 'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process cytosol ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) AACTTCTCCACCCCAACATCC 0.632000 7 26 1.12685e-05 1.21353e-05 1 1 0 FANCA 2175 broad.mit.edu 37 16 89813088 89813088 + Silent SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr16:89813088C>T ENST00000389301.3 - 35 3447 c.3417G>A c.(3415-3417)ctG>ctA p.L1139L FANCA_ENST00000568369.1_Silent_p.L1139L NM_000135.2 NP_000126.2 O15360 FANCA_HUMAN Fanconi anemia, complementation group A 1139 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) GACAGGCGTTCAGGAGGCCCT 0.567000 """D, Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 3 10 0 0 1 0 0 ERBB3 2065 broad.mit.edu 37 12 56490899 56490899 + Missense_Mutation SNP C C G TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr12:56490899C>G ENST00000267101.3 + 20 2785 c.2345C>G c.(2344-2346)tCt>tGt p.S782C ERBB3_ENST00000415288.2_Missense_Mutation_p.S723C|ERBB3_ENST00000553131.1_Missense_Mutation_p.S23C|ERBB3_ENST00000450146.2_Missense_Mutation_p.S139C NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 782 Protein kinase. cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) CCAGGGTCATCTCTGCAGCTT 0.537000 196 52 0 0 1 0 0 SOHLH2 54937 broad.mit.edu 37 13 36776163 36776163 + Missense_Mutation SNP A A T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr13:36776163A>T ENST00000379881.3 - 2 204 c.116T>A c.(115-117)cTa>cAa p.L39Q SOHLH2_ENST00000317764.6_Missense_Mutation_p.L39Q|SOHLH2_ENST00000554962.1_Missense_Mutation_p.L116Q|CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.L116Q NM_017826.2 NP_060296.2 spermatogenesis and oogenesis specific basic helix-loop-helix 2 autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273) GTTTGCAAATAGTTTCTGTAC 0.438000 6 113 0 0 1 0 0 DNAH6 1768 broad.mit.edu 37 2 84780156 84780156 + Missense_Mutation SNP C C G TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr2:84780156C>G ENST00000389394.3 + 10 1737 c.1600C>G c.(1600-1602)Ctg>Gtg p.L534V DNAH6_ENST00000398278.2_Missense_Mutation_p.L534V|DNAH6_ENST00000237449.6_Missense_Mutation_p.L534V NM_001370.1 NP_001361.1 Q9C0G6 DYH6_HUMAN dynein, axonemal, heavy chain 6 534 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 57 GGAAGACTTTCTGGTGTGTGT 0.418000 6 129 0 0 1 0 0 COMMD7 149951 broad.mit.edu 37 20 31292698 31292698 + Missense_Mutation SNP C C G TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr20:31292698C>G ENST00000278980.6 - 6 950 c.345G>C c.(343-345)caG>caC p.Q115H COMMD7_ENST00000446419.2_Missense_Mutation_p.Q114H NM_001099339.1|NM_053041.2 NP_001092809.1|NP_444269.2 Q86VX2 COMD7_HUMAN COMM domain containing 7 115 negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|tumor necrosis factor-mediated signaling pathway NF-kappaB binding breast(1)|endometrium(1)|lung(3) 5 TGGGAGCATTCTGCTTCCACT 0.433000 4 66 0 0 1 0 0 GALNT16 57452 broad.mit.edu 37 14 69727153 69727153 + Missense_Mutation SNP A A T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr14:69727153A>T ENST00000337827.4 + 1 473 c.146A>T c.(145-147)cAg>cTg p.Q49L GALNT16_ENST00000553669.1_Missense_Mutation_p.Q49L|GALNT16_ENST00000448469.3_Missense_Mutation_p.Q49L|RP11-363J20.2_ENST00000556316.1_lincRNA NM_001168368.1|NM_020692.2 NP_001161840.1|NP_065743.2 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16 AGGTCGGAGCAGCTCCGCGAG 0.716000 9 2 0 0 1 0 0 NPHP3 27031 broad.mit.edu 37 3 132403616 132403616 + Missense_Mutation SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr3:132403616G>A ENST00000337331.5 - 24 3438 c.3352C>T c.(3352-3354)Cgt>Tgt p.R1118C NPHP3_ENST00000326682.8_3'UTR NM_153240.4 NP_694972.3 Q7Z494 NPHP3_HUMAN nephronophthisis 3 (adolescent) 1118 maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TCTAAGGAACGCTTCAGAAAC 0.418000 19 44 0 0 1 0 0 RICTOR 253260 broad.mit.edu 37 5 38963098 38963098 + Missense_Mutation SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr5:38963098C>T ENST00000357387.3 - 17 1476 c.1446G>A c.(1444-1446)atG>atA p.M482I RICTOR_ENST00000296782.5_Missense_Mutation_p.M482I NM_152756.3 NP_689969.2 Q6R327 RICTR_HUMAN RPTOR independent companion of MTOR, complex 2 482 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5) 75 all_lung(31;0.000396) CTCGTTTCTTCATTTCATGGA 0.388000 5 61 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30750186 30750186 + Missense_Mutation SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr16:30750186C>T ENST00000262518.4 + 34 9210 c.8825C>T c.(8824-8826)cCc>cTc p.P2942L SRCAP_ENST00000344771.4_Missense_Mutation_p.P2784L|SRCAP_ENST00000395059.2_Missense_Mutation_p.P2880L NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 2942 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) CGAGGACGACCCCCTAAAGCA 0.592000 6 29 0 0 1 0 0 TAGLN2 8407 broad.mit.edu 37 1 159890152 159890152 + Missense_Mutation SNP C C G TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr1:159890152C>G ENST00000368097.4 - 2 458 c.148G>C c.(148-150)Gag>Cag p.E50Q TAGLN2_ENST00000368096.1_Missense_Mutation_p.E71Q|TAGLN2_ENST00000478033.1_5'UTR|TAGLN2_ENST00000320307.4_Missense_Mutation_p.E50Q NM_001277223.1|NM_003564.1 NP_001264152.1|NP_003555.1 P37802 TAGL2_HUMAN transgelin 2 50 CH. muscle organ development nuclear membrane|plasma membrane protein binding endometrium(1)|large_intestine(2)|lung(6) 9 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.111) TGGAAGTTCTCGCGTCCAGGC 0.587000 4 96 0 0 1 0 0 LRP6 4040 broad.mit.edu 37 12 12334014 12334014 + Missense_Mutation SNP C C G TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr12:12334014C>G ENST00000261349.4 - 6 1412 c.1336G>C c.(1336-1338)Gag>Cag p.E446Q LRP6_ENST00000543091.1_Missense_Mutation_p.E446Q NM_002336.2 NP_002327.2 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 6 446 Beta-propeller 2. cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) CGGGGTTCCTCTAAGTCCTCT 0.438000 61 17 0 0 1 0 0 HIST1H1C 3006 broad.mit.edu 37 6 26056108 26056108 + Silent SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr6:26056108C>T ENST00000343677.2 - 1 591 c.549G>A c.(547-549)aaG>aaA p.K183K NM_005319.3 NP_005310.1 P16403 H12_HUMAN histone cluster 1, H1c 183 nucleosome assembly nucleosome|nucleus DNA binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 34 TGGCAGCTTTCTTGGGCTTCG 0.552000 44 65 0 0 1 0 0 LIPE 3991 broad.mit.edu 37 19 42931086 42931086 + Missense_Mutation SNP C C G TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr19:42931086C>G ENST00000244289.4 - 1 492 c.216G>C c.(214-216)caG>caC p.Q72H LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000457234.2_RNA NM_005357.2 NP_005348.2 Q05469 LIPS_HUMAN lipase, hormone-sensitive 72 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 Prostate(69;0.00682) TAGGTTCCTTCTGGGATTCAG 0.522000 7 210 0 0 1 0 0 APC 324 broad.mit.edu 37 5 112103071 112103071 + Missense_Mutation SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr5:112103071G>A ENST00000457016.1 + 4 786 c.406G>A c.(406-408)Gaa>Aaa p.E136K APC_ENST00000257430.4_Missense_Mutation_p.E136K|APC_ENST00000508376.2_Missense_Mutation_p.E136K P25054 APC_HUMAN adenomatous polyposis coli 136 Leu-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.E136K(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) ATATTTAGAAGAACTTGAGAA 0.338000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 3 39 0 0 1 0 0 OTOF 9381 broad.mit.edu 37 2 26684682 26684682 + Missense_Mutation SNP C C G TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr2:26684682C>G ENST00000272371.2 - 43 5541 c.5415G>C c.(5413-5415)aaG>aaC p.K1805N OTOF_ENST00000339598.3_Missense_Mutation_p.K1038N|OTOF_ENST00000403946.3_Missense_Mutation_p.K1805N|OTOF_ENST00000338581.6_Missense_Mutation_p.K1038N|OTOF_ENST00000402415.3_Missense_Mutation_p.K1115N NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 1805 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGATGACGATCTTCTCCTCCG 0.592000 46 66 0 0 1 0 0 ZNF492 57615 broad.mit.edu 37 19 22847623 22847623 + Missense_Mutation SNP G G C TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr19:22847623G>C ENST00000456783.2 + 4 1396 c.1152G>C c.(1150-1152)aaG>aaC p.K384N NM_020855.2 NP_065906.1 Q9P255 ZN492_HUMAN zinc finger protein 492 384 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244) CTACACATAAGAGAATTCATA 0.383000 6 63 0 0 1 0 0 ENKD1 84080 broad.mit.edu 37 16 67697324 67697324 + Splice_Site SNP C C G TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr16:67697324C>G ENST00000243878.4 - 6 1200 c.879G>C c.(877-879)caG>caC p.Q293H ENKD1_ENST00000602644.1_3'UTR NM_032140.1 NP_115516.1 enkurin domain containing 1 GGTACTCACTCTGGAGCAGCT 0.687000 13 26 0 0 1 0 0 PSG4 5672 broad.mit.edu 37 19 43702409 43702409 + Missense_Mutation SNP G G C rs138406653 byFrequency TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr19:43702409G>C ENST00000405312.3 - 3 686 c.449C>G c.(448-450)tCc>tGc p.S150C PSG4_ENST00000244295.9_Missense_Mutation_p.S150C|PSG4_ENST00000433626.2_Intron NM_002780.3 NP_002771.2 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 150 Ig-like C2-type 1. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) GCTGGAGATGGAGGGCTTGGG 0.502000 5 197 0 0 1 0 0 GALNT16 57452 broad.mit.edu 37 14 69727147 69727147 + Missense_Mutation SNP C C G TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr14:69727147C>G ENST00000337827.4 + 1 467 c.140C>G c.(139-141)tCg>tGg p.S47W GALNT16_ENST00000553669.1_Missense_Mutation_p.S47W|GALNT16_ENST00000448469.3_Missense_Mutation_p.S47W|RP11-363J20.2_ENST00000556316.1_lincRNA NM_001168368.1|NM_020692.2 NP_001161840.1|NP_065743.2 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16 GGCAGGAGGTCGGAGCAGCTC 0.706000 11 2 0 0 1 0 0 RIMS2 9699 broad.mit.edu 37 8 104898393 104898393 + Silent SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr8:104898393G>A ENST00000507740.1 + 2 1226 c.990G>A c.(988-990)acG>acA p.T330T RIMS2_ENST00000262231.10_Silent_p.T330T|RIMS2_ENST00000436393.2_Silent_p.T300T|RIMS2_ENST00000406091.3_Silent_p.T522T NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 553 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) TGGCTTCCACGCCTGAATATA 0.398000 HNSCC(12;0.0054) 4 65 0 0 1 0 0 IQSEC3 440073 broad.mit.edu 37 12 278267 278267 + Silent SNP G G A rs142177613 byFrequency TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr12:278267G>A ENST00000538872.1 + 12 3178 c.3060G>A c.(3058-3060)ccG>ccA p.P1020P IQSEC3_ENST00000537151.1_3'UTR|RP11-598F7.6_ENST00000537295.1_lincRNA|IQSEC3_ENST00000382841.2_Silent_p.P717P|IQSEC3_ENST00000326261.4_Silent_p.P1020P Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 1020 regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) AAGGATCGCCGACAGGTGAGC 0.637000 6 37 0 0 1 0 0 DUT 1854 broad.mit.edu 37 15 48634228 48634228 + Missense_Mutation SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr15:48634228G>A ENST00000331200.3 + 7 805 c.712G>A c.(712-714)Gac>Aac p.D238N DUT_ENST00000558813.1_Missense_Mutation_p.D127N|DUT_ENST00000559416.1_Missense_Mutation_p.D153N|DUT_ENST00000559540.1_3'UTR|DUT_ENST00000455976.2_Missense_Mutation_p.D150N NM_001025248.1|NM_001025249.1 NP_001020419.1|NP_001020420.1 P33316 DUT_HUMAN deoxyuridine triphosphatase 238 DNA replication|dUTP metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process mitochondrion|nucleoplasm dUTP diphosphatase activity|protein binding kidney(2) 2 all_lung(180;0.00265) all cancers(107;2.66e-09)|GBM - Glioblastoma multiforme(94;6.76e-07) GGCCTTGGATGACACCGAAAG 0.368000 Modulation of nucleotide pools 8 59 0 0 1 0 0 POLR2A 5430 broad.mit.edu 37 17 7405419 7405419 + Silent SNP G G T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr17:7405419G>T ENST00000322644.6 + 15 2949 c.2550G>T c.(2548-2550)acG>acT p.T850T NM_000937.4 NP_000928 P24928 RPB1_HUMAN polymerase (RNA) II (DNA directed) polypeptide A, 220kDa 850 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 50 Prostate(122;0.173) TCATTGACACGGCTGTCAAGA 0.587000 5 13 0.0215528 0.0220018 1 1 0 ZKSCAN7 55888 broad.mit.edu 37 3 44612220 44612220 + Missense_Mutation SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr3:44612220G>A ENST00000273320.3 + 6 2047 c.1618G>A c.(1618-1620)Gac>Aac p.D540N RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000341840.3_Intron|ZKSCAN7_ENST00000431636.1_Intron|RP11-944L7.5_ENST00000419137.1_Intron|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.D540N NM_018651.2 NP_061121.2 zinc finger with KRAB and SCAN domains 7 AAATCTCATTGACCATCAGAG 0.448000 24 67 0 0 1 0 0 FZD2 2535 broad.mit.edu 37 17 42635417 42635417 + Missense_Mutation SNP T T G TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr17:42635417T>G ENST00000315323.3 + 1 493 c.361T>G c.(361-363)Tgc>Ggc p.C121G NM_001466.3 NP_001457.1 Q14332 FZD2_HUMAN frizzled family receptor 2 121 FZ. axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8) 33 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) GCGCCAGGGCTGCGAAGCCCT 0.662000 40 78 0 0 1 0 0 OR8B12 219858 broad.mit.edu 37 11 124412755 124412755 + Missense_Mutation SNP G G T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr11:124412755G>T ENST00000306842.2 - 1 820 c.796C>A c.(796-798)Ccc>Acc p.P266T NM_001005195.1 NP_001005195.1 Q8NGG6 OR8BC_HUMAN olfactory receptor, family 8, subfamily B, member 12 266 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213) TGCTCGAGGGGCAGGATGGAA 0.438000 38 2 1.42033e-22 1.62482e-22 1 1 0 HIST1H2BM 8342 broad.mit.edu 37 6 27782937 27782937 + Missense_Mutation SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr6:27782937C>T ENST00000359465.4 + 1 116 c.116C>T c.(115-117)tCt>tTt p.S39F NM_003521.2 NP_003512.1 Q99879 H2B1M_HUMAN histone cluster 1, H2bm 39 nucleosome assembly nucleosome|nucleus DNA binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2) 12 GAGAGCTACTCTGTGTATGTG 0.502000 24 108 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48556398 48556398 + Nonsense_Mutation SNP C C A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr7:48556398C>A ENST00000435803.1 + 52 13742 c.13718C>A c.(13717-13719)tCa>tAa p.S4573* ABCA13_ENST00000544596.1_Nonsense_Mutation_p.S303* NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 4573 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TCCTATGTCTCACTAAACTTC 0.418000 12 122 0.000151284 0.000161151 1 1 0 ARHGAP30 257106 broad.mit.edu 37 1 161022267 161022267 + Silent SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr1:161022267C>T ENST00000368013.3 - 8 1223 c.903G>A c.(901-903)gaG>gaA p.E301E ARHGAP30_ENST00000368015.1_Silent_p.E124E|ARHGAP30_ENST00000368016.3_Silent_p.E301E NM_001025598.1|NM_181720.2 NP_001020769.1|NP_859071.2 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 301 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) TACGCTTAGTCTCATGGCCAG 0.547000 16 433 0 0 1 0 0 RP9 6100 broad.mit.edu 37 7 33136131 33136131 + Silent SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr7:33136131G>A ENST00000297157.3 - 5 458 c.441C>T c.(439-441)gaC>gaT p.D147D NM_203288.1 NP_976033.1 Q8TA86 RP9_HUMAN retinitis pigmentosa 9 (autosomal dominant) 147 PIM1-binding (By similarity). RNA splicing nucleus nucleic acid binding|protein binding|zinc ion binding large_intestine(3)|lung(3)|urinary_tract(1) 7 GBM - Glioblastoma multiforme(11;0.0403) GTCGTTTATTGTCTCGTATGA 0.368000 6 80 0 0 1 0 0 NBAS 51594 broad.mit.edu 37 2 15307238 15307238 + Silent SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr2:15307238C>T ENST00000281513.5 - 52 7075 c.7050G>A c.(7048-7050)gtG>gtA p.V2350V NBAS_ENST00000441750.1_Silent_p.V2230V NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 2350 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 GAGTCCCCCTCACGGCCAGAA 0.647000 15 39 0 0 1 0 0 NOTCH3 4854 broad.mit.edu 37 19 15278173 15278173 + Nonsense_Mutation SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr19:15278173C>T ENST00000263388.2 - 29 5324 c.5249G>A c.(5248-5250)tGg>tAg p.W1750* NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 1750 Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) GTGTTGAGTCCACTGACGGCA 0.607000 8 30 0 0 1 0 0 HOXB1 3211 broad.mit.edu 37 17 46607085 46607085 + Missense_Mutation SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr17:46607085C>T ENST00000239174.6 - 2 822 c.730G>A c.(730-732)Gaa>Aaa p.E244K HOXB1_ENST00000577092.1_3'UTR NM_002144.3 NP_002135.2 P14653 HXB1_HUMAN homeobox B1 244 nucleus protein domain specific binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 ACCTGTGTTTCATTGAGCTCC 0.582000 17 169 0 0 1 0 0 BPIFC 254240 broad.mit.edu 37 22 32813116 32813116 + Missense_Mutation SNP A A C TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr22:32813116A>C ENST00000397452.1 - 14 1390 c.1280T>G c.(1279-1281)aTt>aGt p.I427S BPIFC_ENST00000300399.3_Missense_Mutation_p.I427S|BPIFC_ENST00000534972.1_Missense_Mutation_p.I151S|BPIFC_ENST00000432451.2_Missense_Mutation_p.I184S Q8NFQ6 BPIL2_HUMAN BPI fold containing family C 427 extracellular region lipopolysaccharide binding|phospholipid binding GGACGATAGAATATTTTCAAA 0.378000 12 225 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26463372 26463372 + Missense_Mutation SNP G G T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr10:26463372G>T ENST00000265944.5 + 30 4345 c.4179G>T c.(4177-4179)ttG>ttT p.L1393F MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 1393 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 CTCATAATTTGTATTCCTATC 0.388000 12 85 4.93089e-13 5.4705e-13 1 1 0 SRP68 6730 broad.mit.edu 37 17 74056415 74056415 + Missense_Mutation SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr17:74056415C>T ENST00000307877.2 - 7 972 c.811G>A c.(811-813)Gag>Aag p.E271K SRP68_ENST00000539137.1_Missense_Mutation_p.E233K|SRP68_ENST00000355113.5_Missense_Mutation_p.E170K NM_014230.3 NP_055045.2 Q9UHB9 SRP68_HUMAN signal recognition particle 68kDa 271 response to drug cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting RNA binding|signal recognition particle binding NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3) 23 AAGAGACCCTCAGTGCCCCCA 0.438000 9 69 0 0 1 0 0 MGAT4B 11282 broad.mit.edu 37 5 179228875 179228875 + Silent SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr5:179228875G>A ENST00000337755.5 - 1 1123 c.237C>T c.(235-237)ctC>ctT p.L79L MGAT4B_ENST00000521305.1_5'UTR|MGAT4B_ENST00000292591.7_Silent_p.L64L NM_054013.3 NP_463459.1 Q9UQ53 MGT4B_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B 64 N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1) 13 all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCACCAGGTTGAGCTCCTTGG 0.637000 OREG0017110 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 3 0 0 1 0 0 DPY19L2P2 349152 broad.mit.edu 37 7 102825946 102825946 + RNA SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr7:102825946C>T ENST00000312132.4 - 0 3751 GACAGCTTGACACTTGCCATT 0.373000 5 68 0 0 1 0 0 PTPRO 5800 broad.mit.edu 37 12 15654820 15654820 + Missense_Mutation SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr12:15654820G>A ENST00000281171.4 + 5 1258 c.928G>A c.(928-930)Gaa>Aaa p.E310K PTPRO_ENST00000543886.1_Missense_Mutation_p.E310K|PTPRO_ENST00000348962.2_Missense_Mutation_p.E310K NM_030667.2 NP_109592.1 Q16827 PTPRO_HUMAN protein tyrosine phosphatase, receptor type, O 310 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1) 74 Hepatocellular(102;0.244) TCCTGAAAGTGAAGATGAATT 0.443000 12 21 0 0 1 0 0 TP53I3 9540 broad.mit.edu 37 2 24305783 24305783 + Silent SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr2:24305783G>A ENST00000238721.4 - 2 1232 c.378C>T c.(376-378)ctC>ctT p.L126L FAM228B_ENST00000461972.1_Intron|TP53I3_ENST00000313482.4_Silent_p.L126L|TP53I3_ENST00000335934.4_Silent_p.L126L|TP53I3_ENST00000407482.1_Silent_p.L126L|TP53I3_ENST00000417886.1_Intron NM_004881.4 NP_004872.2 Q53FA7 QORX_HUMAN tumor protein p53 inducible protein 3 126 induction of apoptosis by oxidative stress|NADP metabolic process NADPH binding|NADPH:quinone reductase activity|protein homodimerization activity|quinone binding|zinc ion binding endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2) 12 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGAAGGCGGTGAGCCAGGCCT 0.582000 6 6 0 0 1 0 0 KIF5A 3798 broad.mit.edu 37 12 57974944 57974944 + Missense_Mutation SNP C C A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr12:57974944C>A ENST00000455537.2 + 24 3018 c.2744C>A c.(2743-2745)tCt>tAt p.S915Y KIF5A_ENST00000286452.5_Missense_Mutation_p.S826Y NM_004984.2 NP_004975.2 Q12840 KIF5A_HUMAN kinesin family member 5A 915 Globular. blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2) 62 CGGGGCCATTCTGCCCAGATT 0.537000 3 12 0.004672 0.00481954 1 1 0 GRM7 2917 broad.mit.edu 37 3 7456818 7456818 + Nonsense_Mutation SNP C C G TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr3:7456818C>G ENST00000486284.1 + 5 1416 c.1142C>G c.(1141-1143)tCa>tGa p.S381* GRM7_ENST00000403881.1_Nonsense_Mutation_p.S381*|GRM7_ENST00000357716.4_Nonsense_Mutation_p.S381*|GRM7_ENST00000402647.2_Nonsense_Mutation_p.S381*|GRM7_ENST00000389336.4_Nonsense_Mutation_p.S381* NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 381 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) ATTAGTGGGTCAAAAAAAGAA 0.423000 4 55 0 0 1 0 0 GLRA1 2741 broad.mit.edu 37 5 151230955 151230955 + Missense_Mutation SNP G G T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr5:151230955G>T ENST00000274576.4 - 7 1200 c.908C>A c.(907-909)cCc>cAc p.P303H GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000455880.2_Missense_Mutation_p.P303H|GLRA1_ENST00000545569.1_Missense_Mutation_p.P220H NM_000171.3|NM_001146040.1 NP_000162.2|NP_001139512.1 P23415 GLRA1_HUMAN glycine receptor, alpha 1 303 muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 23 all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) ACTTACCTTGGGCAGAGATGC 0.532000 3 16 0.00909568 0.0093501 1 1 0 SPTBN4 57731 broad.mit.edu 37 19 41066379 41066379 + Silent SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr19:41066379G>A ENST00000595535.1 + 27 6071 c.5985G>A c.(5983-5985)ttG>ttA p.L1995L SPTBN4_ENST00000392023.1_Silent_p.L671L|SPTBN4_ENST00000338932.3_Intron|SPTBN4_ENST00000598249.1_Intron|SPTBN4_ENST00000352632.3_Intron|SPTBN4_ENST00000392025.1_Intron Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 0 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) CCAGCCCATTGACAGCCCCCT 0.607000 7 27 0 0 1 0 0 IRF2 3660 broad.mit.edu 37 4 185340655 185340655 + Missense_Mutation SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr4:185340655G>A ENST00000393593.3 - 3 362 c.155C>T c.(154-156)gCa>gTa p.A52V IRF2_ENST00000512020.1_5'UTR NM_002199.3 NP_002190.2 P14316 IRF2_HUMAN interferon regulatory factor 2 52 blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway focal adhesion|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 22 all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592) all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419) AAAGAGTGGTGCATCTTTTTC 0.388000 19 64 0 0 1 0 0 CD1E 913 broad.mit.edu 37 1 158324229 158324229 + Missense_Mutation SNP C C A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr1:158324229C>A ENST00000368160.3 + 2 121 c.121C>A c.(121-123)Caa>Aaa p.Q41K CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.Q39K|CD1E_ENST00000368167.3_Missense_Mutation_p.Q41K|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.Q41K|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368155.3_Missense_Mutation_p.Q41K|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.Q41K|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368156.1_Missense_Mutation_p.Q41K|CD1E_ENST00000368165.3_Missense_Mutation_p.Q41K NM_001042583.2 NP_001036048.1 P15812 CD1E_HUMAN CD1e molecule 41 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) CCGCATGCTCCAAACTTCCTC 0.542000 4 48 0.150653 0.151168 1 1 0 UTRN 7402 broad.mit.edu 37 6 144812185 144812185 + Missense_Mutation SNP G G C TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr6:144812185G>C ENST00000367545.3 + 31 4384 c.4384G>C c.(4384-4386)Gat>Cat p.D1462H NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 1462 Interaction with SYNM. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) TCACGTTCTGGATGTGAAGGA 0.522000 137 2 0 0 1 0 0 ZNF440 126070 broad.mit.edu 37 19 11943708 11943708 + Missense_Mutation SNP G G C TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr19:11943708G>C ENST00000304060.5 + 4 1881 c.1717G>C c.(1717-1719)Gta>Cta p.V573L NM_152357.2 NP_689570.2 Q8IYI8 ZN440_HUMAN zinc finger protein 440 573 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 CCCTATGCATGTAAGGAATGT 0.458000 9 64 0 0 1 0 0 NCF4 4689 broad.mit.edu 37 22 37272086 37272086 + Missense_Mutation SNP G G C TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr22:37272086G>C ENST00000397147.4 + 8 1203 c.1019G>C c.(1018-1020)aGg>aCg p.R340T NCF4_ENST00000248899.6_Missense_Mutation_p.E258D NM_013416.3 NP_038202.2 Q15080 NCF4_HUMAN neutrophil cytosolic factor 4, 40kDa 0 cell communication|immune response|oxidation-reduction process cytosol|NADPH oxidase complex phosphatidylinositol binding|protein dimerization activity cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 TCGCGGTGGAGGAAGATCTCA 0.597000 14 49 0 0 1 0 0 ACACA 31 broad.mit.edu 37 17 35536319 35536319 + Missense_Mutation SNP G G C TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr17:35536319G>C ENST00000353139.5 - 41 5442 c.4961C>G c.(4960-4962)tCc>tGc p.S1654C ACACA_ENST00000360679.3_Missense_Mutation_p.S1559C|ACACA_ENST00000394406.2_Missense_Mutation_p.S1617C|ACACA_ENST00000335166.5_Missense_Mutation_p.S1539C NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 1617 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) TGCTTGAGTGGACATAGACTC 0.408000 4 43 0 0 1 0 0 DIP2B 57609 broad.mit.edu 37 12 51065098 51065098 + Missense_Mutation SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr12:51065098C>T ENST00000301180.5 + 5 591 c.557C>T c.(556-558)tCa>tTa p.S186L NM_173602.2 NP_775873.2 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B (Drosophila) 186 Ser-rich. nucleus catalytic activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 60 TCCACTTCTTCATCCGCATCT 0.512000 113 60 0 0 1 0 0 LOC220729 220729 broad.mit.edu 37 3 197348739 197348739 + RNA SNP G G C TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr3:197348739G>C ENST00000418868.1 - 0 520 NR_003266.2 TAATTTTCTAGCTGTGAAAGA 0.398000 4 84 0 0 1 0 0 TEK 7010 broad.mit.edu 37 9 27190532 27190532 + Missense_Mutation SNP C C A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr9:27190532C>A ENST00000380036.4 + 10 1775 c.1333C>A c.(1333-1335)Cca>Aca p.P445T TEK_ENST00000406359.4_Missense_Mutation_p.P402T|TEK_ENST00000519097.1_Missense_Mutation_p.P298T NM_000459.3 NP_000450 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial 445 Fibronectin type-III 1. angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3) 15 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) TTTAGTTCTTCCAAAGCCCCT 0.418000 17 76 2.94398e-08 3.22959e-08 1 1 0 TMEM51 55092 broad.mit.edu 37 1 15546238 15546238 + Silent SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr1:15546238G>A ENST00000428417.1 + 3 1207 c.761G>A c.(760-762)tGa>tAa p.*254* TMEM51_ENST00000376014.3_Silent_p.*254*|TMEM51_ENST00000434578.2_3'UTR|TMEM51_ENST00000376008.2_Silent_p.*254*|TMEM51_ENST00000400796.3_Silent_p.*254* NM_001136217.1 NP_001129689.1 Q9NW97 TMM51_HUMAN transmembrane protein 51 0 integral to membrane breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2) 14 Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751) CCGCCCGACTGAATGGCCCCA 0.597000 4 37 0 0 1 0 0 CD86 942 broad.mit.edu 37 3 121822629 121822629 + Missense_Mutation SNP T T C TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr3:121822629T>C ENST00000330540.2 + 3 451 c.335T>C c.(334-336)aTc>aCc p.I112T CD86_ENST00000264468.5_Intron|CD86_ENST00000393627.2_Missense_Mutation_p.I106T|CD86_ENST00000493101.1_Intron|CD86_ENST00000469710.1_Missense_Mutation_p.I30T NM_175862.4 NP_787058 P42081 CD86_HUMAN CD86 molecule 112 Ig-like V-type. interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation coreceptor activity|protein binding breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 23 GBM - Glioblastoma multiforme(114;0.156) Abatacept(DB01281) CAATGTATCATCCATCACAAA 0.443000 33 78 0 0 1 0 0 RPSA 3921 broad.mit.edu 37 3 39453498 39453498 + Missense_Mutation SNP G G T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr3:39453498G>T ENST00000301821.6 + 6 848 c.739G>T c.(739-741)Gac>Tac p.D247Y RPSA_ENST00000443003.1_Missense_Mutation_p.D252Y|RPSA_ENST00000478027.1_3'UTR NM_001012321.1|NM_002295.4 NP_001012321.1|NP_002286.2 P08865 RSSA_HUMAN ribosomal protein SA 247 Laminin-binding. cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|ribosomal small subunit assembly|rRNA export from nucleus|translational elongation|translational termination|viral transcription 90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane protein binding|receptor activity|ribosome binding|structural constituent of ribosome endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 7 KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064) TGAGGTTGCAGACTGGTCTGA 0.507000 4 64 0.184627 0.184627 1 1 0 L3MBTL4 91133 broad.mit.edu 37 18 6244536 6244536 + Missense_Mutation SNP C C G TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr18:6244536C>G ENST00000400104.3 - 6 471 c.271G>C c.(271-273)Gaa>Caa p.E91Q L3MBTL4_ENST00000284898.6_Missense_Mutation_p.E91Q|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.E91Q|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.E91Q Q8NA19 LMBL4_HUMAN l(3)mbt-like 4 (Drosophila) 91 chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Colorectal(10;0.0249) TCAATGCCTTCTAATCTCATT 0.423000 19 96 0 0 1 0 0 ANAPC7 51434 broad.mit.edu 37 12 110819630 110819630 + Silent SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr12:110819630G>A ENST00000455511.3 - 8 1161 c.1161C>T c.(1159-1161)ggC>ggT p.G387G ANAPC7_ENST00000450008.2_Silent_p.G387G NM_016238.2 NP_057322.2 Q9UJX3 APC7_HUMAN anaphase promoting complex subunit 7 387 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1) 19 CTTGGACTCTGCCCATGTTCC 0.478000 5 29 0 0 1 0 0 UTRN 7402 broad.mit.edu 37 6 144800975 144800975 + Nonsense_Mutation SNP G G T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr6:144800975G>T ENST00000367545.3 + 25 3364 c.3364G>T c.(3364-3366)Gaa>Taa p.E1122* NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 1122 muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) TAGGTTGTCTGAAAGTCAAGA 0.398000 6 122 0.0215528 0.0220018 1 1 0 IL6ST 3572 broad.mit.edu 37 5 55248113 55248113 + Missense_Mutation SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr5:55248113C>T ENST00000381298.2 - 12 1829 c.1517G>A c.(1516-1518)aGc>aAc p.S506N IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000522633.2_3'UTR|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000381294.3_Missense_Mutation_p.S445N|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000502326.3_Missense_Mutation_p.S506N|IL6ST_ENST00000336909.5_Missense_Mutation_p.S506N NM_001190981.1|NM_002184.3|NM_175767.2 NP_001177910.1|NP_002175.2|NP_786943.1 P40189 IL6RB_HUMAN interleukin 6 signal transducer (gp130, oncostatin M receptor) 506 Fibronectin type-III 4. interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223) GGATTCAGGGCTTCCTGGTCC 0.358000 O hepatocellular ca 6 54 0 0 1 0 0 HHIPL1 84439 broad.mit.edu 37 14 100126644 100126644 + Missense_Mutation SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr14:100126644C>T ENST00000330710.5 + 5 1501 c.1403C>T c.(1402-1404)cCg>cTg p.P468L HHIPL1_ENST00000357223.2_Missense_Mutation_p.P468L NM_001127258.1 NP_001120730.1 Q96JK4 HIPL1_HUMAN HHIP-like 1 468 carbohydrate metabolic process extracellular region|membrane oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2) 15 Melanoma(154;0.128) TTCGCCTACCCGCACACGGTT 0.607000 4 28 0 0 1 0 0 PLA2R1 22925 broad.mit.edu 37 2 160804023 160804023 + Missense_Mutation SNP G G T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr2:160804023G>T ENST00000283243.7 - 26 3963 c.3757C>A c.(3757-3759)Ccc>Acc p.P1253T PLA2R1_ENST00000392771.1_Missense_Mutation_p.P1253T NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 1253 endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 TTTATCCAGGGAATAGATGTT 0.368000 9 91 3.09899e-07 3.37445e-07 1 1 0 TENM3 55714 broad.mit.edu 37 4 183603145 183603145 + Nonsense_Mutation SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr4:183603145G>A ENST00000511685.1 + 11 2136 c.2013G>A c.(2011-2013)tgG>tgA p.W671* TENM3_ENST00000406950.2_Nonsense_Mutation_p.W671*|TENM3_ENST00000502950.1_3'UTR teneurin transmembrane protein 3 ACCCTAACTGGACTGGCCCAG 0.448000 4 33 0 0 1 0 0 SPIN4 139886 broad.mit.edu 37 X 62570096 62570096 + Silent SNP C C A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chrX:62570096C>A ENST00000374884.2 - 1 1127 c.549G>T c.(547-549)gtG>gtT p.V183V SPIN4_ENST00000335144.3_Silent_p.V201V|SPIN4-AS1_ENST00000451979.1_RNA Q56A73 SPIN4_HUMAN spindlin family, member 4 201 gamete generation endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 11 CCTGCTTGCCCACGAGACTGT 0.463000 8 48 2.17888e-05 2.33792e-05 1 1 0 APOLD1 81575 broad.mit.edu 37 12 12940379 12940379 + Missense_Mutation SNP C C G TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr12:12940379C>G ENST00000356591.4 + 2 625 c.540C>G c.(538-540)atC>atG p.I180M APOLD1_ENST00000326765.6_Missense_Mutation_p.I211M NM_030817.2 NP_110444.3 Q96LR9 APLD1_HUMAN apolipoprotein L domain containing 1 211 angiogenesis|cell differentiation|lipid transport|lipoprotein metabolic process extracellular region|integral to membrane|plasma membrane lipid binding breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1) 5 Prostate(47;0.0632) BRCA - Breast invasive adenocarcinoma(232;0.0338)|GBM - Glioblastoma multiforme(207;0.149) GCTTCCTCATCCCCAGGCGGG 0.632000 6 92 0 0 1 0 0 MAD1L1 8379 broad.mit.edu 37 7 2260563 2260563 + Missense_Mutation SNP C C A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr7:2260563C>A ENST00000402746.1 - 3 348 c.151G>T c.(151-153)Ggc>Tgc p.G51C MAD1L1_ENST00000399654.2_Intron|MAD1L1_ENST00000265854.7_Intron|MAD1L1_ENST00000406869.1_Intron Q9Y6D9 MD1L1_HUMAN MAD1 mitotic arrest deficient-like 1 (yeast) 0 cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle protein binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5) 36 Ovarian(82;0.0272) UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14) GCCCACCTGCCCACAGGGTCA 0.552000 9 12 0.0477658 0.0485922 1 1 0 PPP4R1 9989 broad.mit.edu 37 18 9595085 9595085 + Nonsense_Mutation SNP G G C TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr18:9595085G>C ENST00000400556.3 - 3 192 c.119C>G c.(118-120)tCa>tGa p.S40* PPP4R1_ENST00000400555.3_Nonsense_Mutation_p.S23* NM_001042388.2 NP_001035847.1 Q8TF05 PP4R1_HUMAN protein phosphatase 4, regulatory subunit 1 40 protein phosphorylation|signal transduction protein phosphatase 4 complex protein binding|protein phosphatase type 4 regulator activity large_intestine(1)|skin(2) 3 TTCATCTTGTGAGACAAAGTC 0.403000 15 33 0 0 1 0 0 KANSL1 284058 broad.mit.edu 37 17 44110827 44110827 + Splice_Site SNP C C A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr17:44110827C>A ENST00000262419.6 - 12 3137 c.e12-1 KANSL1_ENST00000574590.1_Splice_Site|KANSL1_ENST00000393476.3_Splice_Site|KANSL1_ENST00000575318.1_Splice_Site|KANSL1_ENST00000432791.1_Splice_Site|KANSL1_ENST00000572904.1_Splice_Site NM_001193466.1 NP_001180395 Q7Z3B3 K1267_HUMAN KAT8 regulatory NSL complex subunit 1 MLL1 complex protein binding CTCCCGCCAGCTGCAAAACCA 0.502000 36 37 8.69298e-16 9.71763e-16 1 1 0 ZC3H8 84524 broad.mit.edu 37 2 113012514 113012514 + Silent SNP G G C TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr2:113012514G>C ENST00000409573.2 - 1 174 c.45C>G c.(43-45)ctC>ctG p.L15L ZC3H8_ENST00000272570.5_Silent_p.L15L Q8N5P1 ZC3H8_HUMAN zinc finger CCCH-type containing 8 apoptosis|negative regulation of T cell differentiation in thymus|negative regulation of transcription, DNA-dependent|positive regulation of thymocyte apoptosis|response to antibiotic|T cell homeostasis nucleus RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3) 7 CCGTTTTGCCGAGGGCCGGGT 0.532000 4 15 0 0 1 0 0 NCOR1 9611 broad.mit.edu 37 17 15961853 15961853 + Missense_Mutation SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr17:15961853G>A ENST00000268712.3 - 38 6199 c.5942C>T c.(5941-5943)tCa>tTa p.S1981L NCOR1_ENST00000395851.1_Missense_Mutation_p.S1878L|NCOR1_ENST00000395857.3_Missense_Mutation_p.S565L NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 1981 Interaction with C1D (By similarity). cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) TGGCGCAGGTGAGCTGGCAGG 0.423000 4 48 0 0 1 0 0 DHX30 22907 broad.mit.edu 37 3 47887801 47887801 + Silent SNP C C A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr3:47887801C>A ENST00000446256.2 + 12 1694 c.1122C>A c.(1120-1122)ctC>ctA p.L374L DHX30_ENST00000348968.4_Silent_p.L385L|DHX30_ENST00000457607.1_Silent_p.L441L|DHX30_ENST00000445061.1_Silent_p.L413L NM_014966.3 NP_055781.2 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 30 413 mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 37 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) AGGTACGTCTCAGCCAGAGTC 0.622000 21 87 3.10358e-05 3.31801e-05 1 1 0 CNGB3 54714 broad.mit.edu 37 8 87616339 87616339 + Missense_Mutation SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr8:87616339G>A ENST00000320005.5 - 15 1810 c.1763C>T c.(1762-1764)tCg>tTg p.S588L NM_019098.4 NP_061971.3 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 588 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 TCCAAACACCGACCCAGCTTT 0.388000 5 50 0 0 1 0 0 ARHGAP30 257106 broad.mit.edu 37 1 161022269 161022269 + Missense_Mutation SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr1:161022269C>T ENST00000368013.3 - 8 1221 c.901G>A c.(901-903)Gag>Aag p.E301K ARHGAP30_ENST00000368015.1_Missense_Mutation_p.E124K|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.E301K NM_001025598.1|NM_181720.2 NP_001020769.1|NP_859071.2 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 301 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) CGCTTAGTCTCATGGCCAGAG 0.547000 17 428 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57327081 57327081 + Missense_Mutation SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr19:57327081C>T ENST00000326441.9 - 10 3092 c.2729G>A c.(2728-2730)gGa>gAa p.G910E ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.G910E|PEG3_ENST00000598410.1_Missense_Mutation_p.G786E|PEG3_ENST00000593695.1_Missense_Mutation_p.G784E|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 910 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) AGATCCCTCTCCAGGAACACT 0.463000 10 106 0 0 1 0 0 ZNF676 163223 broad.mit.edu 37 19 22375856 22375856 + Nonsense_Mutation SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr19:22375856C>T ENST00000397121.2 - 2 409 c.92G>A c.(91-93)tGg>tAg p.W31* NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 31 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) CTTCATATTCCAGGGCTCTTT 0.418000 6 69 0 0 1 0 0 ZNF568 374900 broad.mit.edu 37 19 37441616 37441616 + Missense_Mutation SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr19:37441616G>A ENST00000415168.1 + 5 1745 c.1369G>A c.(1369-1371)Gag>Aag p.E457K ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000333987.7_Missense_Mutation_p.E521K|ZNF568_ENST00000427117.1_Intron NM_001204837.1 NP_001191766.1 Q3ZCX4 ZN568_HUMAN zinc finger protein 568 521 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1) 29 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CACTGAACATGAGAAAATTCA 0.378000 8 90 0 0 1 0 0 KRIT1 889 broad.mit.edu 37 7 91864773 91864773 + Missense_Mutation SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr7:91864773C>T ENST00000394507.1 - 9 1456 c.673G>A c.(673-675)Gca>Aca p.A225T KRIT1_ENST00000340022.2_Missense_Mutation_p.A225T|KRIT1_ENST00000412043.2_Missense_Mutation_p.A225T|KRIT1_ENST00000394505.2_Missense_Mutation_p.A225T|KRIT1_ENST00000394503.2_Missense_Mutation_p.A225T NM_194456.1 NP_919438.1 O00522 KRIT1_HUMAN KRIT1, ankyrin repeat containing 225 angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction cell-cell junction|cytoskeleton protein binding|small GTPase regulator activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1) 22 all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) CAGGTATCTGCTTTCTCTAGG 0.353000 4 92 0 0 1 0 0 C2orf80 389073 broad.mit.edu 37 2 209045506 209045506 + Missense_Mutation SNP T T C TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr2:209045506T>C ENST00000341287.4 - 6 524 c.329A>G c.(328-330)tAt>tGt p.Y110C C2orf80_ENST00000451346.1_Missense_Mutation_p.Y91C|C2orf80_ENST00000453017.1_Missense_Mutation_p.Y110C NM_001099334.2 NP_001092804 Q0P641 CB080_HUMAN chromosome 2 open reading frame 80 110 endometrium(2)|large_intestine(3)|lung(6)|skin(2) 13 ATCAGCCCCATAAATTTTAAA 0.338000 24 37 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 17088054 17088054 + Silent SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr10:17088054G>A ENST00000377833.4 - 24 3434 c.3369C>T c.(3367-3369)ttC>ttT p.F1123F NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 1123 CUB 6. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TTGAGCCATAGAATATTCCCA 0.343000 42 42 0 0 1 0 0 C9orf9 11092 broad.mit.edu 37 9 135759350 135759350 + Missense_Mutation SNP G G C TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr9:135759350G>C ENST00000372136.3 + 2 463 c.16G>C c.(16-18)Gaa>Caa p.E6Q C9orf9_ENST00000350499.6_Missense_Mutation_p.E6Q|C9orf9_ENST00000356311.5_Missense_Mutation_p.E6Q Q96E40 CI009_HUMAN chromosome 9 open reading frame 9 6 p.?(1) cervix(1)|large_intestine(1)|lung(1)|prostate(1) 4 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|GBM - Glioblastoma multiforme(294;4.84e-07)|Epithelial(140;1.28e-06) TGAGGTGAAAGAATCCCTTCG 0.537000 6 56 0 0 1 0 0 USP6 9098 broad.mit.edu 37 17 5042417 5042417 + Missense_Mutation SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr17:5042417G>A ENST00000304328.5 + 14 2929 c.68G>A c.(67-69)cGt>cAt p.R23H USP6_ENST00000332776.4_Intron|USP6_ENST00000574788.1_Intron|USP6_ENST00000250066.6_Intron P35125 UBP6_HUMAN ubiquitin specific peptidase 6 (Tre-2 oncogene) 0 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 GACTACAGGCGTGTCGTCAGT 0.657000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 5 18 0 0 1 0 0 ZNF836 162962 broad.mit.edu 37 19 52659200 52659200 + Missense_Mutation SNP T T C TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr19:52659200T>C ENST00000322146.8 - 5 2257 c.1736A>G c.(1735-1737)gAg>gGg p.E579G CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.E579G NM_001102657.1 NP_001096127.1 Q6ZNA1 ZN836_HUMAN zinc finger protein 836 579 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 GAAAGGTTTCTCTCCCGTATG 0.398000 106 101 0 0 1 0 0 GRIP1 23426 broad.mit.edu 37 12 66786236 66786236 + Silent SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr12:66786236C>T ENST00000359742.4 - 19 2556 c.2316G>A c.(2314-2316)ttG>ttA p.L772L GRIP1_ENST00000286445.7_Silent_p.L772L|GRIP1_ENST00000398016.3_Silent_p.L720L Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 772 androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1) 50 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) CCAGGTCACTCAAATGGCTAG 0.488000 338 50 0 0 1 0 0 EHHADH 1962 broad.mit.edu 37 3 184910375 184910375 + Missense_Mutation SNP C C G TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr3:184910375C>G ENST00000231887.3 - 7 1886 c.1811G>C c.(1810-1812)aGa>aCa p.R604T EHHADH_ENST00000456310.1_Missense_Mutation_p.R508T NM_001166415.1|NM_001966.3 NP_001159887.1|NP_001957.2 Q08426 ECHP_HUMAN enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase 604 peroxisome 3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3) 24 all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21) NADH(DB00157) ATGGGTTTTTCTATACCGTGA 0.428000 22 97 0 0 1 0 0 ZNF512B 57473 broad.mit.edu 37 20 62598084 62598084 + Silent SNP T T C TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr20:62598084T>C ENST00000450537.1 - 5 504 c.444A>G c.(442-444)gcA>gcG p.A148A ZNF512B_ENST00000217130.3_Silent_p.A148A|ZNF512B_ENST00000369888.1_Silent_p.A148A Q96KM6 Z512B_HUMAN zinc finger protein 512B 148 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1) 33 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) TAGAGGTGAATGCGGCCTCGC 0.652000 10 23 0 0 1 0 0 MYOC 4653 broad.mit.edu 37 1 171605682 171605682 + Missense_Mutation SNP C C G TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr1:171605682C>G ENST00000037502.6 - 3 969 c.898G>C c.(898-900)Gag>Cag p.E300Q NM_000261.1 NP_000252.1 Q99972 MYOC_HUMAN myocilin, trabecular meshwork inducible glucocorticoid response Olfactomedin-like. E -> K (in GLC1A; uncertain pathogenicity). anatomical structure morphogenesis cilium|extracellular space|rough endoplasmic reticulum structural molecule activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2) 28 all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) AGGTCATACTCAAAAACCTGG 0.562000 7 49 0 0 1 0 0 STAG1 10274 broad.mit.edu 37 3 136062817 136062817 + Missense_Mutation SNP C C G TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr3:136062817C>G ENST00000383202.2 - 30 3559 c.3303G>C c.(3301-3303)agG>agC p.R1101S STAG1_ENST00000434713.2_Missense_Mutation_p.R841S|STAG1_ENST00000236698.5_Missense_Mutation_p.R1101S|STAG1_ENST00000536929.1_Missense_Mutation_p.R685S NM_005862.2 NP_005853.2 Q8WVM7 STAG1_HUMAN stromal antigen 1 1101 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 TGGTGTCAGTCCTGTTTAGCC 0.507000 6 45 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78400913 78400913 + Missense_Mutation SNP C C A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr12:78400913C>A ENST00000397909.2 + 8 1768 c.1595C>A c.(1594-1596)tCt>tAt p.S532Y NAV3_ENST00000536525.2_Missense_Mutation_p.S532Y|NAV3_ENST00000266692.7_Missense_Mutation_p.S532Y|NAV3_ENST00000228327.6_Missense_Mutation_p.S532Y Q8IVL0 NAV3_HUMAN neuron navigator 3 532 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 AAACCAGGCTCTAAAGTTCCA 0.468000 HNSCC(70;0.22) 6 21 0.00116845 0.00120959 1 1 0 N4BP1 9683 broad.mit.edu 37 16 48596026 48596026 + Silent SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr16:48596026C>T ENST00000262384.3 - 2 764 c.528G>A c.(526-528)ttG>ttA p.L176L RP11-44I10.3_ENST00000563994.1_RNA NM_153029.3 NP_694574.3 O75113 N4BP1_HUMAN NEDD4 binding protein 1 176 negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination nucleolus|PML body breast(3)|kidney(2)|lung(11)|urinary_tract(1) 17 all_cancers(37;0.179)|all_lung(18;0.11) TGGGCAAAATCAACAAATCCA 0.373000 5 22 0 0 1 0 0 SOX5 6660 broad.mit.edu 37 12 23757351 23757351 + Silent SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr12:23757351C>T ENST00000546136.1 - 8 1097 c.1095G>A c.(1093-1095)aaG>aaA p.K365K SOX5_ENST00000309359.1_Silent_p.K365K|SOX5_ENST00000381381.2_Silent_p.K365K|SOX5_ENST00000545921.1_Silent_p.K368K|SOX5_ENST00000541536.1_Silent_p.K365K|SOX5_ENST00000451604.2_Silent_p.K378K|SOX5_ENST00000537393.1_Silent_p.K343K P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 378 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3) 57 TGTTTGTGCTCTTGTCTGTGT 0.468000 5 82 0 0 1 0 0 PKD1 5310 broad.mit.edu 37 16 2156483 2156483 + Missense_Mutation SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr16:2156483G>A ENST00000262304.4 - 18 7613 c.7405C>T c.(7405-7407)Cgc>Tgc p.R2469C PKD1_ENST00000423118.1_Missense_Mutation_p.R2469C NM_001009944.2 NP_001009944 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 2469 REJ. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 AGCGGCGGGCGGTTGGGGGAC 0.711000 3 8 0 0 1 0 0 ITGA2 3673 broad.mit.edu 37 5 52360925 52360925 + Missense_Mutation SNP A A G TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr5:52360925A>G ENST00000296585.5 + 14 1929 c.1786A>G c.(1786-1788)Atc>Gtc p.I596V NM_002203.3 NP_002194.2 P17301 ITA2_HUMAN integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) 596 axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 47 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) TCAGGGCACTATCCGCACAAA 0.388000 6 50 0 0 1 0 0 LYST 1130 broad.mit.edu 37 1 235940493 235940493 + Nonsense_Mutation SNP G G C TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr1:235940493G>C ENST00000389794.3 - 17 5504 c.5330C>G c.(5329-5331)tCa>tGa p.S1777* LYST_ENST00000389793.2_Nonsense_Mutation_p.S1777*|LYST_ENST00000536965.1_3'UTR Q99698 LYST_HUMAN lysosomal trafficking regulator 1777 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) AACTTCTTTTGAGCTGAAGGG 0.373000 4 103 0 0 1 0 0 ZNF492 57615 broad.mit.edu 37 19 22847025 22847025 + Missense_Mutation SNP C C G TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr19:22847025C>G ENST00000456783.2 + 4 798 c.554C>G c.(553-555)tCt>tGt p.S185C NM_020855.2 NP_065906.1 Q9P255 ZN492_HUMAN zinc finger protein 492 185 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244) TCAAACCTTTCTACACATAAA 0.368000 14 34 0 0 1 0 0 WDR92 116143 broad.mit.edu 37 2 68384716 68384716 + Silent SNP A A G TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr2:68384716A>G ENST00000406334.3 - 8 1091 c.873T>C c.(871-873)acT>acC p.T291T 0 TGTTGGCTGTAGTTATCCCCG 0.522000 7 37 0 0 1 0 0 DLG5 9231 broad.mit.edu 37 10 79595678 79595678 + Silent SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr10:79595678G>A ENST00000372391.2 - 8 1445 c.1440C>T c.(1438-1440)atC>atT p.I480I DLG5_ENST00000372388.2_Silent_p.I480I NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 480 cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) CCGTGTCTTTGATCTGGTGGG 0.602000 4 49 0 0 1 0 0 SLC12A4 6560 broad.mit.edu 37 16 67984324 67984324 + Silent SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr16:67984324G>A ENST00000422611.2 - 11 1572 c.1533C>T c.(1531-1533)atC>atT p.I511I SLC12A4_ENST00000576616.1_Silent_p.I509I|SLC12A4_ENST00000537830.2_Silent_p.I503I|SLC12A4_ENST00000316341.3_Silent_p.I509I|SLC12A4_ENST00000572037.1_Silent_p.I461I|SLC12A4_ENST00000338335.3_Silent_p.I509I|SLC12A4_ENST00000541864.2_Silent_p.I478I NM_001145962.1 NP_001139434.1 Q9UP95 S12A4_HUMAN solute carrier family 12 (potassium/chloride transporter), member 4 509 cell volume homeostasis|potassium ion transport|sodium ion transport integral to plasma membrane|membrane fraction potassium:chloride symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3) 29 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) Bumetanide(DB00887)|Potassium Chloride(DB00761) AGAAGGAGCCGATGACGATGA 0.607000 4 24 0 0 1 0 0 KIAA1211 57482 broad.mit.edu 37 4 57173849 57173849 + Missense_Mutation SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr4:57173849C>T ENST00000504228.1 + 3 374 c.269C>T c.(268-270)tCa>tTa p.S90L KIAA1211_ENST00000541073.1_Missense_Mutation_p.S83L|KIAA1211_ENST00000264229.6_Missense_Mutation_p.S90L Q6ZU35 K1211_HUMAN KIAA1211 90 endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) ATCGTCCTCTCAGACGCAGAG 0.517000 4 30 0 0 1 0 0 MUC1 4582 broad.mit.edu 37 1 155161899 155161899 + Silent SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr1:155161899G>A ENST00000368395.1 - 2 305 c.234C>T c.(232-234)gtC>gtT p.V78V MUC1_ENST00000343256.5_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000368390.3_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000368392.3_Intron|MUC1_ENST00000337604.5_Intron|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000368398.3_Intron|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000462215.1_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000438413.1_Intron NM_001204285.1|NM_001204286.1 NP_001191214.1|NP_001191215.1 P15941 MUC1_HUMAN mucin 1, cell surface associated 858 apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus protein binding breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2) 10 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GGGCCAGAGTGACATCCTGTC 0.627000 T IGH@ B-NHL 21 66 0 0 1 0 0 POSTN 10631 broad.mit.edu 37 13 38171360 38171360 + Missense_Mutation SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr13:38171360C>T ENST00000379747.4 - 2 296 c.179G>A c.(178-180)tGt>tAt p.C60Y POSTN_ENST00000541481.1_Missense_Mutation_p.C60Y|POSTN_ENST00000379742.4_Missense_Mutation_p.C60Y|POSTN_ENST00000379749.4_Missense_Mutation_p.C60Y|POSTN_ENST00000541179.1_Missense_Mutation_p.C60Y|POSTN_ENST00000379743.4_Missense_Mutation_p.C60Y NM_006475.2 NP_006466.2 Q15063 POSTN_HUMAN periostin, osteoblast specific factor 60 EMI. cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 59 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) CCAGTTCTTACAAGTGCTGAA 0.358000 5 61 0 0 1 0 0 HEATR1 55127 broad.mit.edu 37 1 236761247 236761247 + Silent SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr1:236761247C>T ENST00000366582.3 - 5 648 c.534G>A c.(532-534)ttG>ttA p.L178L HEATR1_ENST00000366581.2_Silent_p.L178L|HEATR1_ENST00000483073.1_5'UTR NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 178 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) AGTGGGTAATCAAAGTTCCTT 0.358000 7 92 0 0 1 0 0 STK36 27148 broad.mit.edu 37 2 219559281 219559281 + Missense_Mutation SNP C C G TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr2:219559281C>G ENST00000295709.3 + 21 2713 c.2434C>G c.(2434-2436)Cag>Gag p.Q812E STK36_ENST00000440309.1_Missense_Mutation_p.Q812E|STK36_ENST00000392105.3_Missense_Mutation_p.Q812E|STK36_ENST00000392106.2_Missense_Mutation_p.Q812E NM_015690.4 NP_056505.2 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 812 cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 52 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) ACAGCTTGGTCAGCAAGGGGT 0.567000 11 42 0 0 1 0 0 CNNM4 26504 broad.mit.edu 37 2 97462811 97462811 + Missense_Mutation SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr2:97462811G>A ENST00000377075.2 + 2 1563 c.1465G>A c.(1465-1467)Gag>Aag p.E489K CNNM4_ENST00000496186.1_3'UTR|CNNM4_ENST00000540067.1_5'UTR NM_020184.3 NP_064569.3 Q6P4Q7 CNNM4_HUMAN cyclin M4 489 CBS 2. biomineral tissue development|ion transport|response to stimulus|visual perception integral to membrane|plasma membrane breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2) 20 CCCCTTCTACGAGGTCCTGGG 0.577000 5 17 0 0 1 0 0 DPY19L2P2 349152 broad.mit.edu 37 7 102825947 102825947 + RNA SNP A A G TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr7:102825947A>G ENST00000312132.4 - 0 3750 ACAGCTTGACACTTGCCATTG 0.373000 5 67 0 0 1 0 0 CCNG2 901 broad.mit.edu 37 4 78085475 78085475 + Missense_Mutation SNP C C G TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr4:78085475C>G ENST00000316355.5 + 7 1110 c.754C>G c.(754-756)Cta>Gta p.L252V CCNG2_ENST00000502280.1_Missense_Mutation_p.L252V|CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000395640.1_Missense_Mutation_p.L252V|CCNG2_ENST00000354403.5_Missense_Mutation_p.L252V|CCNG2_ENST00000509972.1_Missense_Mutation_p.L252V NM_004354.2 NP_004345.1 Q16589 CCNG2_HUMAN cyclin G2 252 cell cycle checkpoint|cell division|mitosis cytoplasm breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 10 TTCTAAATGCCTAGCCGAGTA 0.413000 4 138 0 0 1 0 0 KRTAP24-1 643803 broad.mit.edu 37 21 31654987 31654987 + Silent SNP C C A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr21:31654987C>A ENST00000340345.4 - 1 289 c.264G>T c.(262-264)ccG>ccT p.P88P NM_001085455.1 NP_001078924.1 Q3LI83 KR241_HUMAN keratin associated protein 24-1 88 keratin filament structural molecule activity p.P88P(2) breast(1)|large_intestine(3)|lung(7)|urinary_tract(3) 14 AGGAGTTTGACGGGTCACAAC 0.567000 16 44 6.31663e-08 6.90367e-08 1 1 0 OR8I2 120586 broad.mit.edu 37 11 55860941 55860941 + Missense_Mutation SNP C C G TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr11:55860941C>G ENST00000302124.2 + 1 189 c.158C>G c.(157-159)tCt>tGt p.S53C NM_001003750.1 NP_001003750.1 Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, member 2 53 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 53 Esophageal squamous(21;0.00693) AGAATGGATTCTCAGCTTCAC 0.373000 12 150 0 0 1 0 0 RGS14 10636 broad.mit.edu 37 5 176794475 176794475 + Missense_Mutation SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr5:176794475G>A ENST00000408923.3 + 6 732 c.544G>A c.(544-546)Gag>Aag p.E182K NM_006480.4 NP_006471.2 O43566 RGS14_HUMAN regulator of G-protein signaling 14 182 RGS. chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1) 12 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCTGTACCGCGAGTGCCTGCT 0.677000 7 13 0 0 1 0 0 CAPN7 23473 broad.mit.edu 37 3 15265036 15265036 + Silent SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr3:15265036G>A ENST00000253693.2 + 6 946 c.693G>A c.(691-693)ctG>ctA p.L231L NM_014296.2 NP_055111.1 Q9Y6W3 CAN7_HUMAN calpain 7 231 proteolysis nucleus calcium-dependent cysteine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2) 22 ATGTTGACCTGAGAGAACGTT 0.313000 13 87 0 0 1 0 0 NACA 4666 broad.mit.edu 37 12 57110111 57110111 + Missense_Mutation SNP G G C TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr12:57110111G>C ENST00000454682.1 - 3 5484 c.5203C>G c.(5203-5205)Cca>Gca p.P1735A NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 AGAGGGGCTGGAGCCACTGTG 0.498000 T BCL6 NHL 10 148 0 0 1 0 0 LILRA6 79168 broad.mit.edu 37 19 54744848 54744848 + Missense_Mutation SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr19:54744848G>A ENST00000440558.2 - 5 862 c.814C>T c.(814-816)Ccc>Tcc p.P272S LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000419410.2_Missense_Mutation_p.P272S|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000245621.5_Missense_Mutation_p.P272S|LILRA6_ENST00000396365.2_Missense_Mutation_p.P272S leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6 central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2) 38 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CCAGCCTGGGGCTGCTGGCCA 0.632000 4 79 0 0 1 0 0 ARHGAP25 9938 broad.mit.edu 37 2 69049484 69049484 + Missense_Mutation SNP G G C TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr2:69049484G>C ENST00000295381.3 + 10 1629 c.1210G>C c.(1210-1212)Gat>Cat p.D404H ARHGAP25_ENST00000409220.1_Missense_Mutation_p.D398H|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.D365H|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.D405H|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.D397H|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.D98H NM_001007231.2 NP_001007232.2 P42331 RHG25_HUMAN Rho GTPase activating protein 25 404 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 52 AAGCGACTCTGATACAACCAG 0.517000 24 133 0 0 1 0 0 ZNF836 162962 broad.mit.edu 37 19 52659242 52659242 + Missense_Mutation SNP T T G TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr19:52659242T>G ENST00000322146.8 - 5 2215 c.1694A>C c.(1693-1695)tAc>tCc p.Y565S CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.Y565S NM_001102657.1 NP_001096127.1 Q6ZNA1 ZN836_HUMAN zinc finger protein 836 565 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 GTTTCCACTGTAATTGAAGAC 0.388000 97 118 0 0 1 0 0 BFAR 51283 broad.mit.edu 37 16 14738367 14738367 + Missense_Mutation SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr16:14738367G>A ENST00000261658.2 + 2 441 c.164G>A c.(163-165)cGt>cAt p.R55H BFAR_ENST00000426842.2_5'UTR|BFAR_ENST00000563971.1_Missense_Mutation_p.R55H NM_016561.2 NP_057645.1 Q9NZS9 BFAR_HUMAN bifunctional apoptosis regulator 55 anti-apoptosis|apoptosis endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction structural molecule activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1) 11 AGCTTCTGCCGTCACTGCCTT 0.488000 4 150 0 0 1 0 0 EML1 2009 broad.mit.edu 37 14 100405590 100405590 + Missense_Mutation SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr14:100405590G>A ENST00000262233.6 + 21 2387 c.2248G>A c.(2248-2250)Gag>Aag p.E750K EML1_ENST00000334192.4_Missense_Mutation_p.E769K|EML1_ENST00000327921.9_Missense_Mutation_p.E738K NM_004434.2 NP_004425.2 O00423 EMAL1_HUMAN echinoderm microtubule associated protein like 1 750 cytoplasm|microtubule|microtubule associated complex calcium ion binding|protein binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Melanoma(154;0.0879)|all_epithelial(191;0.216) TCGGGCCCATGAGAAGAAACT 0.537000 18 44 0 0 1 0 0 TINAGL1 64129 broad.mit.edu 37 1 32050937 32050937 + Missense_Mutation SNP C C G TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr1:32050937C>G ENST00000271064.7 + 8 1119 c.1043C>G c.(1042-1044)tCc>tGc p.S348C TINAGL1_ENST00000481165.1_3'UTR|TINAGL1_ENST00000457433.2_Missense_Mutation_p.S317C NM_001204415.1|NM_022164.2 NP_001191344.1|NP_071447.1 Q9GZM7 TINAL_HUMAN tubulointerstitial nephritis antigen-like 1 348 endosome transport|immune response|proteolysis extracellular region cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1) 18 Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145) CGCCTCGGCTCCAACGTAAGT 0.602000 8 49 0 0 1 0 0 GIPC1 10755 broad.mit.edu 37 19 14591129 14591129 + Missense_Mutation SNP G G T rs113312686 byFrequency TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr19:14591129G>T ENST00000393033.4 - 6 912 c.643C>A c.(643-645)Cgc>Agc p.R215S GIPC1_ENST00000393028.1_Missense_Mutation_p.R118S|GIPC1_ENST00000393029.3_Missense_Mutation_p.R118S|GIPC1_ENST00000591349.1_Missense_Mutation_p.R118S|GIPC1_ENST00000586027.1_Missense_Mutation_p.R215S|GIPC1_ENST00000345425.2_Missense_Mutation_p.R215S NM_005716.3 NP_005707.1 O14908 GIPC1_HUMAN GIPC PDZ domain containing family, member 1 215 endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane actin binding|myosin binding|protein homodimerization activity|receptor binding endometrium(1)|lung(4)|upper_aerodigestive_tract(1) 6 AAGGCCTTGCGAGGCTCCGTG 0.721000 OREG0025316 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 39 0.000442599 0.000464729 1 1 0 ZNF98 148198 broad.mit.edu 37 19 22574717 22574717 + Silent SNP G G C rs74170714 TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr19:22574717G>C ENST00000357774.5 - 4 1441 c.1320C>G c.(1318-1320)ggC>ggG p.G440G NM_001098626.1 NP_001092096.1 A6NK75 ZNF98_HUMAN zinc finger protein 98 440 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) TAAAAGCTTTGCCACATTCTT 0.378000 3 24 0 0 1 0 0 TEP1 7011 broad.mit.edu 37 14 20837594 20837594 + Missense_Mutation SNP G G C TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr14:20837594G>C ENST00000262715.5 - 53 7605 c.7565C>G c.(7564-7566)tCt>tGt p.S2522C TEP1_ENST00000556935.1_Missense_Mutation_p.S2414C NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 2522 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) CCTGCAGGTAGATGGGTCTGT 0.502000 17 53 0 0 1 0 0 SLC38A2 54407 broad.mit.edu 37 12 46760937 46760937 + Nonsense_Mutation SNP C C A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr12:46760937C>A ENST00000256689.5 - 6 847 c.403G>T c.(403-405)Gaa>Taa p.E135* SLC38A2_ENST00000547252.1_5'UTR NM_018976.4 NP_061849.2 Q96QD8 S38A2_HUMAN solute carrier family 38, member 2 135 cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 18 Lung SC(27;0.192)|Renal(347;0.236) OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374) GBM - Glioblastoma multiforme(48;0.226) CCCAATTGTTCATATAATAAA 0.308000 12 77 0.000978159 0.00101978 1 1 0 BFSP2 8419 broad.mit.edu 37 3 133191357 133191357 + Missense_Mutation SNP C C G TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr3:133191357C>G ENST00000302334.2 + 6 1281 c.1192C>G c.(1192-1194)Ctg>Gtg p.L398V BFSP2_ENST00000511434.1_3'UTR NM_003571.2 NP_003562.1 Q13515 BFSP2_HUMAN beaded filament structural protein 2, phakinin 398 Tail. response to stimulus|visual perception cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1) 13 CAAGTGCCAGCTGCAGAAGGA 0.647000 21 17 0 0 1 0 0 ZFP36L1 677 broad.mit.edu 37 14 69256748 69256748 + Nonsense_Mutation SNP G G T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr14:69256748G>T ENST00000439696.2 - 2 820 c.519C>A c.(517-519)tgC>tgA p.C173* ZFP36L1_ENST00000336440.3_Nonsense_Mutation_p.C173*|ZFP36L1_ENST00000555997.1_3'UTR NM_001244701.1|NM_004926.3 NP_001231630.1|NP_004917.2 Q07352 TISB_HUMAN ZFP36 ring finger protein-like 1 173 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1) 21 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) GGATGAAGTGGCAGCGGGGCC 0.667000 OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 48 3 5.34276e-22 6.06475e-22 1 1 0 NPAS4 266743 broad.mit.edu 37 11 66191328 66191328 + Missense_Mutation SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr11:66191328C>T ENST00000311034.2 + 7 1143 c.967C>T c.(967-969)Cgc>Tgc p.R323C NM_178864.3 NP_849195.2 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 323 transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 CTGGAGCCTCCGCCAGCAGTT 0.552000 7 81 0 0 1 0 0 LARGE 9215 broad.mit.edu 37 22 33679277 33679277 + Silent SNP C C T rs74550830 byFrequency TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr22:33679277C>T ENST00000354992.2 - 14 2359 c.1788G>A c.(1786-1788)gcG>gcA p.A596A LARGE_ENST00000337431.2_Silent_p.A544A|LARGE_ENST00000452586.2_Silent_p.A395A|LARGE_ENST00000437602.2_Intron|LARGE_ENST00000397394.2_Silent_p.A596A|LARGE_ENST00000402320.1_Silent_p.A544A NM_004737.4 NP_004728.1 O95461 LARGE_HUMAN like-glycosyltransferase 596 glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(1;0.219) GTGTCTCGAACGCGGGGACAA 0.547000 9 194 0 0 1 0 0 LSM10 84967 broad.mit.edu 37 1 36859525 36859525 + Missense_Mutation SNP A A G TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr1:36859525A>G ENST00000315732.2 - 2 355 c.206T>C c.(205-207)cTg>cCg p.L69P LSM10_ENST00000476041.1_5'UTR NM_032881.1 NP_116270.1 Q969L4 LSM10_HUMAN LSM10, U7 small nuclear RNA associated 69 histone mRNA metabolic process|mRNA processing|RNA splicing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription Cajal body|U7 snRNP histone pre-mRNA DCP binding|protein binding upper_aerodigestive_tract(1)|urinary_tract(1) 2 Myeloproliferative disorder(586;0.0393) GAGGTCATCCAGCTTGACCTG 0.552000 8 53 0 0 1 0 0 UBE2D4 51619 broad.mit.edu 37 7 43982618 43982618 + Missense_Mutation SNP C C G TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr7:43982618C>G ENST00000222402.3 + 4 275 c.186C>G c.(184-186)ttC>ttG p.F62L POLR2J4_ENST00000427076.1_RNA|UBE2D4_ENST00000394798.4_Missense_Mutation_p.F24L|UBE2D4_ENST00000446008.1_Missense_Mutation_p.F62L NM_015983.3 NP_057067.1 Q9Y2X8 UB2D4_HUMAN ubiquitin-conjugating enzyme E2D 4 (putative) protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination ATP binding|protein binding|ubiquitin-protein ligase activity endometrium(1)|large_intestine(2)|lung(1)|pancreas(1) 5 ATTACCCGTTCAAGCCCCCAA 0.488000 16 68 0 0 1 0 0 ZNF14 7561 broad.mit.edu 37 19 19822821 19822821 + Silent SNP T T C TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr19:19822821T>C ENST00000344099.3 - 4 1407 c.1269A>G c.(1267-1269)caA>caG p.Q423Q NM_021030.2 NP_066358.2 P17017 ZNF14_HUMAN zinc finger protein 14 423 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 32 Renal(1328;0.0474) TTTTACCACATTGTTTACATT 0.388000 46 38 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41648054 41648054 + Missense_Mutation SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr21:41648054C>T ENST00000400454.1 - 11 2803 c.2326G>A c.(2326-2328)Gtc>Atc p.V776I NM_001271534.1|NM_001389.3 NP_001258463.1|NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 776 Ig-like C2-type 8. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GACTTGCTGACGTCTGCGCCC 0.463000 13 59 0 0 1 0 0 GRIK3 2899 broad.mit.edu 37 1 37346235 37346235 + Splice_Site SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr1:37346235C>T ENST00000373091.3 - 3 566 c.550G>A c.(550-552)Ggg>Agg p.G184R GRIK3_ENST00000373093.4_Splice_Site_p.G184R NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 184 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) GGCCACCCACCTGTACTGTCG 0.632000 22 229 0 0 1 0 0 MVD 4597 broad.mit.edu 37 16 88721789 88721789 + Missense_Mutation SNP C C G TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr16:88721789C>G ENST00000301012.3 - 7 744 c.715G>C c.(715-717)Gag>Cag p.E239Q NM_002461.1 NP_002452.1 P53602 MVD1_HUMAN mevalonate (diphospho) decarboxylase 239 cholesterol biosynthetic process|positive regulation of cell proliferation cytosol ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity endometrium(3)|large_intestine(1)|lung(7)|ovary(1) 12 BRCA - Breast invasive adenocarcinoma(80;0.0478) CGGGCCATCTCCGCCATGCGC 0.667000 5 4 0 0 1 0 0 ZNF98 148198 broad.mit.edu 37 19 22574677 22574677 + Missense_Mutation SNP T T C TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr19:22574677T>C ENST00000357774.5 - 4 1481 c.1360A>G c.(1360-1362)Ata>Gta p.I454V NM_001098626.1 NP_001092096.1 A6NK75 ZNF98_HUMAN zinc finger protein 98 454 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) GTATGAATTATCTTATGTGTA 0.363000 3 35 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37486235 37486235 + Missense_Mutation SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr10:37486235G>A ENST00000374660.1 + 34 2929 c.2830G>A c.(2830-2832)Gag>Aag p.E944K ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E825K|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E825K Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 997 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 ATCTGCCTTCGAGGTATTTAG 0.333000 6 209 0 0 1 0 0 FAIM3 9214 broad.mit.edu 37 1 207087209 207087209 + Missense_Mutation SNP C C G TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr1:207087209C>G ENST00000367091.3 - 2 411 c.268G>C c.(268-270)Gag>Cag p.E90Q FAIM3_ENST00000420007.2_Missense_Mutation_p.E90Q|FAIM3_ENST00000442471.2_Intron|FAIM3_ENST00000528654.1_Intron NM_005449.4 NP_005440.1 O60667 FAIM3_HUMAN Fas apoptotic inhibitory molecule 3 90 Ig-like. anti-apoptosis|cellular defense response integral to membrane breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 15 Breast(84;0.201) TGTGTTACCTCCACTAGGAAC 0.517000 15 74 0 0 1 0 0 GTPBP2 54676 broad.mit.edu 37 6 43589890 43589890 + Silent SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr6:43589890C>T ENST00000307126.5 - 11 1481 c.1482G>A c.(1480-1482)gtG>gtA p.V494V GTPBP2_ENST00000307114.7_Silent_p.V406V|GTPBP2_ENST00000476510.1_5'UTR NM_019096.3 NP_061969.3 Q9BX10 GTPB2_HUMAN GTP binding protein 2 494 GTP binding|GTPase activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004) all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167) TCTCCGGGCTCACCATCACCA 0.572000 5 12 0 0 1 0 0 SESN3 143686 broad.mit.edu 37 11 94924617 94924617 + Missense_Mutation SNP C C A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr11:94924617C>A ENST00000536441.1 - 3 629 c.293G>T c.(292-294)cGc>cTc p.R98L SESN3_ENST00000278499.2_Missense_Mutation_p.R20L|SESN3_ENST00000393234.1_Missense_Mutation_p.R98L|RP11-712B9.2_ENST00000534864.1_RNA|SESN3_ENST00000416495.2_Missense_Mutation_p.R98L|RP11-712B9.2_ENST00000534891.1_RNA NM_001271594.1|NM_144665.2 NP_001258523.1|NP_653266.2 P58005 SESN3_HUMAN sestrin 3 98 cell cycle arrest nucleus p.R98L(1) endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1) 16 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) BRCA - Breast invasive adenocarcinoma(274;0.234) ACCATCCATGCGCAACATGTA 0.443000 54 11 7.47603e-22 8.45366e-22 1 1 0 TSSK3 81629 broad.mit.edu 37 1 32828315 32828315 + Missense_Mutation SNP C C A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr1:32828315C>A ENST00000373534.3 + 1 518 c.13C>A c.(13-15)Ctg>Atg p.L5M FAM229A_ENST00000415596.1_Intron NM_052841.3 NP_443073.1 Q96PN8 TSSK3_HUMAN testis-specific serine kinase 3 5 cell differentiation|multicellular organismal development|spermatogenesis ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|large_intestine(6)|lung(5)|skin(2)|stomach(1) 15 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212) GGAGGACTTTCTGCTCTCCAA 0.527000 8 50 5.18039e-06 5.59939e-06 1 1 0 ACTL9 284382 broad.mit.edu 37 19 8808423 8808423 + Missense_Mutation SNP T T C TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr19:8808423T>C ENST00000324436.3 - 1 749 c.629A>G c.(628-630)cAg>cGg p.Q210R NM_178525.3 NP_848620.3 Q8TC94 ACTL9_HUMAN actin-like 9 210 cytoplasm|cytoskeleton NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 36 GTTGTAGCCCTGGAAGACGGG 0.682000 6 39 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547093 132547093 + Silent SNP A A G rs60608267 by1000genomes TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr12:132547093A>G ENST00000333577.4 + 48 8398 c.8289A>G c.(8287-8289)caA>caG p.Q2763Q EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000332482.4_Silent_p.Q2690Q Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagc 0.567000 5 34 0 0 1 0 0 SLC5A9 200010 broad.mit.edu 37 1 48701424 48701424 + Missense_Mutation SNP G G A rs139537448 byFrequency TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr1:48701424G>A ENST00000236495.5 + 11 1290 c.1240G>A c.(1240-1242)Gtg>Atg p.V414M SLC5A9_ENST00000420136.2_3'UTR|SLC5A9_ENST00000533824.1_Missense_Mutation_p.V410M|SLC5A9_ENST00000438567.2_Missense_Mutation_p.V389M NM_001135181.1 NP_001128653.1 Q2M3M2 SC5A9_HUMAN solute carrier family 5 (sodium/sugar cotransporter), member 9 389 integral to membrane|plasma membrane low-affinity glucose:sodium symporter activity breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1) 26 GATGATTGCCGTGATCATGGC 0.592000 3 39 0 0 1 0 0 THEG 51298 broad.mit.edu 37 19 375875 375875 + Silent SNP G G A rs143456454 TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr19:375875G>A ENST00000342640.4 - 1 138 c.96C>T c.(94-96)ctC>ctT p.L32L THEG_ENST00000346878.2_Silent_p.L32L NM_016585.4 NP_057669.1 Q9P2T0 THEG_HUMAN theg spermatid protein 32 cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis nucleus protein binding NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1) 29 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) CAGAGCTCTGGAGGCCACGGG 0.662000 3 41 0 0 1 0 0 TBC1D12 23232 broad.mit.edu 37 10 96162370 96162370 + Translation_Start_Site SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr10:96162370G>A ENST00000225235.4 + 0 110 NM_015188.1 NP_056003.1 O60347 TBC12_HUMAN TBC1 domain family, member 12 intracellular Rab GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2) 20 Colorectal(252;0.0429) CCCACCCCCAGATGGTGGGTC 0.697000 17 2 0 0 1 0 0 RPS6KA5 9252 broad.mit.edu 37 14 91366471 91366471 + Missense_Mutation SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr14:91366471C>T ENST00000261991.3 - 11 1533 c.1360G>A c.(1360-1362)Gtc>Atc p.V454I RPS6KA5_ENST00000536315.2_Missense_Mutation_p.V375I|RPS6KA5_ENST00000418736.2_Missense_Mutation_p.V454I NM_004755.2 NP_004746.2 O75582 KS6A5_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 5 454 Protein kinase 2. axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|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 cytoplasm|nucleoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146) Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201) ATTATTTTGACTGCAAAAGCT 0.294000 20 29 0 0 1 0 0 DUOX2 50506 broad.mit.edu 37 15 45386800 45386800 + Silent SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr15:45386800G>A ENST00000389039.6 - 33 4870 c.4485C>T c.(4483-4485)ttC>ttT p.F1495F DUOX2_ENST00000603300.1_Silent_p.F1495F Q9NRD8 DUOX2_HUMAN dual oxidase 2 1495 cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) AGAAGGGCTCGAAGGGGGGAC 0.637000 6 17 0 0 1 0 0 SLC9C2 284525 broad.mit.edu 37 1 173506089 173506089 + Missense_Mutation SNP G G C TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr1:173506089G>C ENST00000367714.3 - 14 2069 c.1647C>G c.(1645-1647)atC>atG p.I549M SLC9C2_ENST00000536496.1_Missense_Mutation_p.I447M|SLC9C2_ENST00000466087.1_5'UTR NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 549 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ACTTTCCTTGGATGGAGTAAT 0.313000 21 164 0 0 1 0 0 DCDC2B 149069 broad.mit.edu 37 1 32676909 32676909 + Silent SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr1:32676909G>A ENST00000409358.1 + 2 303 c.303G>A c.(301-303)aaG>aaA p.K101K NM_001099434.1 NP_001092904.1 A2VCK2 DCD2B_HUMAN doublecortin domain containing 2B 101 intracellular signal transduction breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1) 11 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) CAGGTGGGAAGAGCTGCAGAC 0.567000 12 12 0 0 1 0 0 SF3B1 23451 broad.mit.edu 37 2 198281515 198281515 + Missense_Mutation SNP G G C TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr2:198281515G>C ENST00000335508.6 - 6 707 c.616C>G c.(616-618)Cag>Gag p.Q206E NM_012433.2 NP_036565.2 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1, 155kDa nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) CCAGGAGTCTGATCAGCTGTT 0.408000 Mis myelodysplastic syndrome 11 221 0 0 1 0 0 PSMB7 5695 broad.mit.edu 37 9 127174633 127174633 + Missense_Mutation SNP G G C TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr9:127174633G>C ENST00000536392.1 - 4 409 c.393C>G c.(391-393)ttC>ttG p.F131L PSMB7_ENST00000498485.1_5'UTR|PSMB7_ENST00000259457.3_Missense_Mutation_p.F131L Q99436 PSB7_HUMAN proteasome (prosome, macropain) subunit, beta type, 7 131 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|interspecies interaction between organisms|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 core complex threonine-type endopeptidase activity breast(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1) 5 AAACTTACCTGAAAAGCATCT 0.458000 5 68 0 0 1 0 0 KRT15 3866 broad.mit.edu 37 17 39673157 39673157 + Missense_Mutation SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr17:39673157C>T ENST00000254043.3 - 3 4226 c.641G>A c.(640-642)cGa>cAa p.R214Q KRT15_ENST00000393981.3_Missense_Mutation_p.R49Q|KRT15_ENST00000393974.3_Missense_Mutation_p.R49Q|KRT15_ENST00000393976.2_Missense_Mutation_p.R214Q NM_002275.3 NP_002266 P19012 K1C15_HUMAN keratin 15 214 Coil 1B.|Rod. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Breast(137;0.000286) ATCCAGGACTCGGCGCAAGCC 0.592000 9 73 0 0 1 0 0 OIP5 11339 broad.mit.edu 37 15 41624617 41624617 + Missense_Mutation SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr15:41624617G>A ENST00000220514.3 - 1 202 c.143C>T c.(142-144)tCg>tTg p.S48L NM_007280.1 NP_009211.1 O43482 MS18B_HUMAN Opa interacting protein 5 48 cell communication|cell division|CenH3-containing nucleosome assembly at centromere|mitosis Cajal body|chromatin|chromosome, centromeric region protein binding endometrium(3)|lung(1)|urinary_tract(1) 5 all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175) OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163) GCCGAGCGGCGAGGACCCCTT 0.677000 23 21 0 0 1 0 0 ARHGAP30 257106 broad.mit.edu 37 1 161022239 161022239 + Missense_Mutation SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr1:161022239C>T ENST00000368013.3 - 8 1251 c.931G>A c.(931-933)Gag>Aag p.E311K ARHGAP30_ENST00000368015.1_Missense_Mutation_p.E134K|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.E311K NM_001025598.1|NM_181720.2 NP_001020769.1|NP_859071.2 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 311 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) CCCCTGTCCTCAGCCCCCCGT 0.537000 16 416 0 0 1 0 0 OCIAD2 132299 broad.mit.edu 37 4 48896040 48896040 + Nonsense_Mutation SNP G G T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr4:48896040G>T ENST00000508632.1 - 5 480 c.248C>A c.(247-249)tCa>tAa p.S83* OCIAD2_ENST00000273860.4_Nonsense_Mutation_p.S83*|OCIAD2_ENST00000508069.2_5'UTR NM_001014446.1 NP_001014446.1 Q56VL3 OCAD2_HUMAN OCIA domain containing 2 83 OCIA. endosome kidney(1)|lung(3)|skin(1)|urinary_tract(1) 6 TTTGGGCAATGATCCAAATCT 0.338000 3 42 0.000602214 0.000630075 1 1 0 MYADM 91663 broad.mit.edu 37 19 54376942 54376942 + Silent SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr19:54376942G>A ENST00000391769.2 + 3 439 c.159G>A c.(157-159)ctG>ctA p.L53L MYADM_ENST00000391770.4_Silent_p.L53L|MYADM_ENST00000336967.3_Silent_p.L53L|MYADM_ENST00000391768.2_Silent_p.L53L|MYADM_ENST00000391771.1_Silent_p.L53L NM_001020821.1 NP_001018657.1 Q96S97 MYADM_HUMAN myeloid-associated differentiation marker 53 MARVEL 1. integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 12 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.0488) CCTTCTCGCTGGTGGCTAGCG 0.652000 OREG0003650 type=REGULATORY REGION|Gene=MYADM|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 13 38 0 0 1 0 0 APOH 350 broad.mit.edu 37 17 64225468 64225468 + Silent SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr17:64225468C>T ENST00000205948.6 - 1 67 c.30G>A c.(28-30)tcG>tcA p.S10S NM_000042.2 NP_000033.2 P02749 APOH_HUMAN apolipoprotein H (beta-2-glycoprotein I) 10 blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(6;9.74e-08) AGAGAAAACTCGAGAACAAGA 0.398000 4 30 0 0 1 0 0 KLHL4 56062 broad.mit.edu 37 X 86868916 86868916 + Silent SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chrX:86868916C>T ENST00000373119.4 + 2 604 c.459C>T c.(457-459)acC>acT p.T153T KLHL4_ENST00000373114.4_Silent_p.T153T NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 153 cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 TGAATGCCACCAGATCTGAAG 0.343000 23 2 0 0 1 0 0 SYTL2 54843 broad.mit.edu 37 11 85435687 85435687 + Missense_Mutation SNP G G C TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr11:85435687G>C ENST00000359152.5 - 1 3384 c.3385C>G c.(3385-3387)Ctt>Gtt p.L1129V SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.L605V|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000525423.1_Missense_Mutation_p.L605V NM_206928.2 NP_996811.1 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 0 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) ATTTCTTTAAGAAGTTTCTCA 0.443000 13 35 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103393653 103393653 + Missense_Mutation SNP C C G TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr7:103393653C>G ENST00000424685.2 - 5 712 c.553G>C c.(553-555)Gat>Cat p.D185H RELN_ENST00000343529.5_Missense_Mutation_p.D185H|RELN_ENST00000428762.1_Missense_Mutation_p.D185H P78509 RELN_HUMAN reelin 185 Reelin. axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) ACAGTGACATCTGTTGGAGCT 0.378000 8 77 0 0 1 0 0 PHKB 5257 broad.mit.edu 37 16 47549430 47549430 + Splice_Site SNP A A T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr16:47549430A>T ENST00000455779.1 + 7 677 c.e7-1 PHKB_ENST00000299167.8_Splice_Site|PHKB_ENST00000566044.1_Splice_Site|PHKB_ENST00000567402.1_Splice_Site|PHKB_ENST00000323584.5_Splice_Site Q93100 KPBB_HUMAN phosphorylase kinase, beta glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1) 41 all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203) TGTTTGTTGCAGATAAATGCA 0.328000 5 23 0 0 1 0 0 GZF1 64412 broad.mit.edu 37 20 23349524 23349524 + Missense_Mutation SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr20:23349524G>A ENST00000338121.5 + 4 1662 c.1585G>A c.(1585-1587)Gcc>Acc p.A529T GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000544236.1_Missense_Mutation_p.A53T|GZF1_ENST00000377051.2_Missense_Mutation_p.A529T|GZF1_ENST00000542987.1_Missense_Mutation_p.A38T Q9H116 GZF1_HUMAN GDNF-inducible zinc finger protein 1 529 transcription, DNA-dependent nucleolus|nucleoplasm sequence-specific DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2) 24 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) CAGGACTTTTGCCCAGCGGAA 0.393000 8 111 0 0 1 0 0 SH3D19 152503 broad.mit.edu 37 4 152070676 152070676 + Missense_Mutation SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr4:152070676C>T ENST00000409598.4 - 10 2120 c.953G>A c.(952-954)cGa>cAa p.R318Q SH3D19_ENST00000409252.2_Missense_Mutation_p.R318Q|SH3D19_ENST00000455740.1_Missense_Mutation_p.R318Q|SH3D19_ENST00000424281.1_Missense_Mutation_p.R282Q|SH3D19_ENST00000304527.4_Missense_Mutation_p.R318Q|SH3D19_ENST00000427414.2_Missense_Mutation_p.R282Q|SH3D19_ENST00000514152.1_Missense_Mutation_p.R318Q Q5HYK7 SH319_HUMAN SH3 domain containing 19 318 Pro-rich. cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport cytosol|Golgi apparatus|nucleus|plasma membrane proline-rich region binding autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1) 20 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.138) TGGGGGTACTCGCACAAAACC 0.408000 15 106 0 0 1 0 0 GABRA4 2557 broad.mit.edu 37 4 46930337 46930337 + Missense_Mutation SNP T T C TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr4:46930337T>C ENST00000264318.3 - 9 2552 c.1570A>G c.(1570-1572)Att>Gtt p.I524V NM_000809.3|NM_001204266.1|NM_001204267.1 NP_000800.2|NP_001191195.1|NP_001191196.1 P48169 GBRA4_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 4 524 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GGAAAGAGAATACGGGCATAT 0.413000 22 37 0 0 1 0 0 ZNF28 7576 broad.mit.edu 37 19 53304523 53304523 + Missense_Mutation SNP T T A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr19:53304523T>A ENST00000438150.2 - 2 1309 c.416A>T c.(415-417)tAt>tTt p.Y139F ZNF28_ENST00000414252.2_Missense_Mutation_p.Y139F|ZNF28_ENST00000457749.2_Missense_Mutation_p.Y192F|ZNF28_ENST00000360272.4_Missense_Mutation_p.Y139F P17035 ZNF28_HUMAN zinc finger protein 28 192 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) ATTATTTCCATACTTATTAGA 0.338000 5 154 0 0 1 0 0 PHB 5245 broad.mit.edu 37 17 47482504 47482504 + Silent SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr17:47482504C>T ENST00000300408.3 - 7 741 c.669G>A c.(667-669)ctG>ctA p.L223L RP11-81K2.1_ENST00000576461.1_Intron|PHB_ENST00000511832.1_Intron|RP11-1079K10.4_ENST00000506504.3_RNA NM_001281496.1|NM_001281715.1|NM_002634.2 NP_001268425.1|NP_001268644.1|NP_002625.1 P35232 PHB_HUMAN prohibitin 223 cellular response to interleukin-6|DNA replication|glucocorticoid receptor signaling pathway|histone deacetylation|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|progesterone receptor signaling pathway|regulation of apoptosis integral to plasma membrane|mitochondrial inner membrane|nucleoplasm histone deacetylase binding|transcription regulatory region DNA binding endometrium(4)|large_intestine(2)|lung(4) 10 all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18) Epithelial(5;8.1e-06)|all cancers(6;7.71e-05) AGTTGGCAATCAGCTCAGCTG 0.562000 3 24 0 0 1 0 0 PAQR3 152559 broad.mit.edu 37 4 79860220 79860220 + Nonsense_Mutation SNP G G T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr4:79860220G>T ENST00000512733.1 - 1 372 c.159C>A c.(157-159)taC>taA p.Y53* PAQR3_ENST00000295462.3_Nonsense_Mutation_p.Y53*|PAQR3_ENST00000380645.4_Nonsense_Mutation_p.Y53* NM_001040202.1 NP_001035292.1 Q6TCH7 PAQR3_HUMAN progestin and adipoQ receptor family member III 53 Golgi membrane|integral to membrane receptor activity breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 8 TGGACGGCAGGTAGGCCCGGT 0.637000 6 58 0.00116845 0.00120959 1 1 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000332482.4_Silent_p.Q2688Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 4 43 0 0 1 0 0 USP34 9736 broad.mit.edu 37 2 61575180 61575180 + Missense_Mutation SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr2:61575180C>T ENST00000398571.2 - 15 2186 c.2110G>A c.(2110-2112)Gat>Aat p.D704N NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 704 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) CCTGAAATATCATGTTCTGGG 0.438000 13 118 0 0 1 0 0 IGSF9B 22997 broad.mit.edu 37 11 133799572 133799572 + Missense_Mutation SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr11:133799572G>A ENST00000321016.8 - 12 1855 c.1625C>T c.(1624-1626)tCa>tTa p.S542L IGSF9B_ENST00000533871.2_Missense_Mutation_p.S542L Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 542 Fibronectin type-III 1. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) GTACCAAACTGAGAATGTCTG 0.627000 8 17 0 0 1 0 0 RIPK1 8737 broad.mit.edu 37 6 3085627 3085627 + Missense_Mutation SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr6:3085627C>T ENST00000259808.4 + 6 1121 c.823C>T c.(823-825)Cgg>Tgg p.R275W RIPK1_ENST00000541791.1_Missense_Mutation_p.R229W|RIPK1_ENST00000380409.2_Missense_Mutation_p.R275W|RIPK1_ENST00000479389.1_3'UTR Q13546 RIPK1_HUMAN receptor (TNFRSF)-interacting serine-threonine kinase 1 275 Protein kinase. activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 23 Ovarian(93;0.0386) all_hematologic(90;0.0895) TCCGGAAGCTCGGCCGACATT 0.453000 4 26 0 0 1 0 0 MED13L 23389 broad.mit.edu 37 12 116445261 116445261 + Silent SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr12:116445261C>T ENST00000281928.3 - 11 2399 c.2193G>A c.(2191-2193)aaG>aaA p.K731K NM_015335.4 NP_056150.1 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 731 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 85 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) GTTTGCATTTCTTGTTGGCTG 0.408000 6 77 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27101517 27101517 + Missense_Mutation SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr1:27101517C>T ENST00000324856.7 + 18 5170 c.4799C>T c.(4798-4800)tCt>tTt p.S1600F ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000374152.2_Missense_Mutation_p.S1217F|ARID1A_ENST00000457599.2_Missense_Mutation_p.S1383F NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1600 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) AACCGCACCTCTCCTAGCAAG 0.607000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 23 29 0 0 1 0 0 RAB27B 5874 broad.mit.edu 37 18 52556530 52556530 + Silent SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr18:52556530C>T ENST00000262094.5 + 6 1064 c.543C>T c.(541-543)atC>atT p.I181I RP11-839G9.1_ENST00000588466.1_RNA NM_004163.4 NP_004154.2 O00194 RB27B_HUMAN RAB27B, member RAS oncogene family 181 protein transport|small GTPase mediated signal transduction Golgi apparatus|plasma membrane GTP binding|GTPase activity large_intestine(3)|lung(3)|skin(1) 7 Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219) TGGACTTAATCATGAAGCGAA 0.418000 25 5 0 0 1 0 0 EIF4G3 8672 broad.mit.edu 37 1 21154121 21154121 + Missense_Mutation SNP A A G TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr1:21154121A>G ENST00000602326.1 - 30 4691 c.4108T>C c.(4108-4110)Tgc>Cgc p.C1370R EIF4G3_ENST00000537738.1_Missense_Mutation_p.C854R|EIF4G3_ENST00000264211.8_Missense_Mutation_p.C1364R|EIF4G3_ENST00000374937.3_Missense_Mutation_p.C1370R|EIF4G3_ENST00000374935.3_Missense_Mutation_p.C1084R|EIF4G3_ENST00000536266.1_Missense_Mutation_p.C968R|EIF4G3_ENST00000400422.1_Missense_Mutation_p.C1364R NM_001198802.1 NP_001185731.1 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 gamma, 3 1364 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) ATTTGTTTGCATAGTAGGTGC 0.393000 25 17 0 0 1 0 0 BRD1 23774 broad.mit.edu 37 22 50216991 50216991 + Silent SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr22:50216991C>T ENST00000216267.8 - 1 1461 c.975G>A c.(973-975)ctG>ctA p.L325L BRD1_ENST00000404034.1_Silent_p.L325L|BRD1_ENST00000457780.2_Silent_p.L325L|BRD1_ENST00000404760.1_Silent_p.L325L NM_014577.1 NP_055392.1 O95696 BRD1_HUMAN bromodomain containing 1 325 histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 37 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) GGTAGCATGTCAGTTTCCACC 0.577000 34 52 0 0 1 0 0 APOE 348 broad.mit.edu 37 19 45411811 45411811 + Missense_Mutation SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr19:45411811G>A ENST00000252486.4 + 4 369 c.258G>A c.(256-258)atG>atA p.M86I NM_000041.2 NP_000032.1 P02649 APOE_HUMAN apolipoprotein E 86 8 X 22 AA approximate tandem repeats. anti-apoptosis|Cdc42 protein signal transduction|cell death|cGMP-mediated signaling|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|cytoskeleton organization|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|induction of apoptosis|intracellular transport|negative regulation of blood vessel endothelial cell migration|negative regulation of cholesterol biosynthetic process|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of platelet activation|nitric oxide mediated signal transduction|phospholipid efflux|positive regulation of cGMP biosynthetic process|positive regulation of cholesterol efflux|positive regulation of cholesterol esterification|positive regulation of low-density lipoprotein particle receptor catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric-oxide synthase activity|receptor-mediated endocytosis|regulation of axon extension|regulation of neuronal synaptic plasticity|response to reactive oxygen species|reverse cholesterol transport|synaptic transmission, cholinergic|triglyceride metabolic process|very-low-density lipoprotein particle clearance|very-low-density lipoprotein particle remodeling chylomicron|dendrite|high-density lipoprotein particle|intermediate-density lipoprotein particle|low-density lipoprotein particle|neuronal cell body|very-low-density lipoprotein particle antioxidant activity|beta-amyloid binding|heparin binding|low-density lipoprotein particle receptor binding|metal chelating activity|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding|protein heterodimerization activity|protein homodimerization activity|tau protein binding|very-low-density lipoprotein particle receptor binding large_intestine(1)|lung(2)|prostate(1) 4 Lung NSC(12;0.0018)|all_lung(12;0.00481) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174) Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064) ACGAGACCATGAAGGAGTTGA 0.677000 8 32 0 0 1 0 0 SMG1 23049 broad.mit.edu 37 16 18849689 18849689 + Nonsense_Mutation SNP G G T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr16:18849689G>T ENST00000446231.2 - 44 7596 c.7184C>A c.(7183-7185)tCa>tAa p.S2395* SMG1_ENST00000389467.3_Nonsense_Mutation_p.S2395* Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 2395 PI3K/PI4K. 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 CTGCTCACATGAAAGCCTAAA 0.388000 4 30 0.00024832 0.000262612 1 1 0 OVCH1 341350 broad.mit.edu 37 12 29592285 29592285 + Silent SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr12:29592285G>A ENST00000318184.5 - 26 3239 c.3240C>T c.(3238-3240)atC>atT p.I1080I OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron NM_183378.2 NP_899234.2 Q7RTY7 OVCH1_HUMAN ovochymase 1 1080 proteolysis extracellular region metal ion binding|serine-type endopeptidase activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3) 92 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) atatatgcatgatatatgtgt 0.313000 5 48 0 0 1 0 0 CCRL2 9034 broad.mit.edu 37 3 46449919 46449919 + Missense_Mutation SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr3:46449919G>A ENST00000399036.3 + 2 701 c.349G>A c.(349-351)Gag>Aag p.E117K CCRL2_ENST00000400880.3_Missense_Mutation_p.E117K|CCRL2_ENST00000400882.2_Missense_Mutation_p.E117K|CCRL2_ENST00000357392.4_Missense_Mutation_p.E129K NM_003965.4 NP_003956.2 O00421 CCRL2_HUMAN chemokine (C-C motif) receptor-like 2 chemotaxis|inflammatory response integral to plasma membrane CCR chemokine receptor binding|chemokine receptor activity lung(3)|ovary(1)|urinary_tract(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02) CCTGTACAGTGAGACATTTTT 0.483000 4 73 0 0 1 0 0 ZDHHC14 79683 broad.mit.edu 37 6 158074650 158074650 + Missense_Mutation SNP G G C TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr6:158074650G>C ENST00000359775.5 + 8 1948 c.1059G>C c.(1057-1059)caG>caC p.Q353H ZDHHC14_ENST00000341375.8_3'UTR|ZDHHC14_ENST00000414563.2_Missense_Mutation_p.Q353H Q8IZN3 ZDH14_HUMAN zinc finger, DHHC-type containing 14 353 integral to membrane acyltransferase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 17 Breast(66;0.00586)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05) CGCAGTCACAGAGTGACATGG 0.607000 9 18 0 0 1 0 0 TULP3 7289 broad.mit.edu 37 12 3048515 3048515 + Missense_Mutation SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr12:3048515G>A ENST00000448120.2 + 11 1285 c.1234G>A c.(1234-1236)Gac>Aac p.D412N TULP3_ENST00000397132.2_Missense_Mutation_p.D412N NM_003324.4 NP_003315.2 O75386 TULP3_HUMAN tubby like protein 3 412 G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent cytoplasm|extracellular region|nucleus|plasma membrane phosphatidylinositol-4,5-bisphosphate binding endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 OV - Ovarian serous cystadenocarcinoma(31;0.000818) TGTGGCAGATGACGTGTTCAC 0.418000 33 196 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77387776 77387776 + Nonsense_Mutation SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr16:77387776G>A ENST00000282849.5 - 10 1886 c.1468C>T c.(1468-1470)Cag>Tag p.Q490* NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 490 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 CACCCCGCCTGAGGTGTGCTG 0.413000 4 75 0 0 1 0 0 PLAGL2 5326 broad.mit.edu 37 20 30789894 30789894 + Missense_Mutation SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr20:30789894G>A ENST00000246229.4 - 2 352 c.88C>T c.(88-90)Cgg>Tgg p.R30W NM_002657.3 NP_002648.1 Q9UPG8 PLAL2_HUMAN pleiomorphic adenoma gene-like 2 30 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 21 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) TCCCGGCCCCGAGGCCTGGGA 0.562000 7 57 0 0 1 0 0 UROD 7389 broad.mit.edu 37 1 45479660 45479660 + Missense_Mutation SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr1:45479660C>T ENST00000246337.4 + 6 673 c.554C>T c.(553-555)cCt>cTt p.P185L UROD_ENST00000494399.1_3'UTR NM_000374.4 NP_000365.3 P06132 DCUP_HUMAN uroporphyrinogen decarboxylase 185 cytosol|microtubule cytoskeleton|nucleus uroporphyrinogen decarboxylase activity endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 4 Acute lymphoblastic leukemia(166;0.155) TATCAGAGACCTCAGGCTAGT 0.552000 Porphyria Cutanea Tarda, Type II 10 85 0 0 1 0 0 AZI2 64343 broad.mit.edu 37 3 28365543 28365543 + Missense_Mutation SNP T T C TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr3:28365543T>C ENST00000479665.1 - 8 1700 c.1169A>G c.(1168-1170)tAt>tGt p.Y390C AZI2_ENST00000295748.3_5'UTR|CMC1_ENST00000466830.1_3'UTR NM_022461.3 NP_071906.1 Q9H6S1 AZI2_HUMAN 5-azacytidine induced 2 390 mitochondrion|plasma membrane p.Y390F(1) cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 TTAATTCTTATAAAGGCAGTT 0.368000 14 44 0 0 1 0 0 EPM2A 7957 broad.mit.edu 37 6 145956523 145956523 + Silent SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr6:145956523G>A ENST00000367519.3 - 3 1101 c.576C>T c.(574-576)ttC>ttT p.F192F EPM2A_ENST00000496228.1_5'UTR NM_005670.3 NP_005661.1 O95278 EPM2A_HUMAN epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) 192 glycogen metabolic process cytosol|endoplasmic reticulum|nucleus|plasma membrane|polysome carbohydrate binding|identical protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1) 7 Ovarian(120;0.162) OV - Ovarian serous cystadenocarcinoma(155;3.38e-07)|GBM - Glioblastoma multiforme(68;0.0203) ATTCAGTCTGGAAATTCATTA 0.443000 15 230 0 0 1 0 0 TAS2R41 259287 broad.mit.edu 37 7 143175188 143175188 + Missense_Mutation SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr7:143175188G>A ENST00000408916.1 + 1 223 c.223G>A c.(223-225)Gag>Aag p.E75K EPHA1-AS1_ENST00000429289.1_RNA NM_176883.2 NP_795364.2 P59536 T2R41_HUMAN taste receptor, type 2, member 41 75 sensory perception of taste integral to membrane G-protein coupled receptor activity endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1) 18 Melanoma(164;0.15) CCAGAAGGTCGAGTACTCTGG 0.557000 11 45 0 0 1 0 0 STON1 11037 broad.mit.edu 37 2 48808551 48808551 + Missense_Mutation SNP C C G TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr2:48808551C>G ENST00000309835.3 + 1 789 c.779C>G c.(778-780)tCt>tGt p.S260C STON1_ENST00000404752.1_Missense_Mutation_p.S260C|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.S260C|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.S260C|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.S260C|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.S260C|STON1_ENST00000406226.1_Missense_Mutation_p.S260C|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.S260C stonin 1 NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2) 37 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) GAAAATGCCTCTTCCTTTGTC 0.443000 38 33 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237947660 237947660 + Silent SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr1:237947660G>A ENST00000366574.2 + 90 12965 c.12648G>A c.(12646-12648)gcG>gcA p.A4216A RYR2_ENST00000360064.6_Silent_p.A4222A|RYR2_ENST00000542537.1_Silent_p.A4200A|RYR2_ENST00000609119.1_3'UTR NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4216 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 p.A4214A(1) 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) AGAGGTCAGCGAATAAGGAAG 0.542000 4 31 0 0 1 0 0 NAA25 80018 broad.mit.edu 37 12 112512526 112512526 + Silent SNP G G C TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr12:112512526G>C ENST00000261745.4 - 9 1067 c.819C>G c.(817-819)gtC>gtG p.V273V NM_024953.3 NP_079229.2 Q14CX7 NAA25_HUMAN N(alpha)-acetyltransferase 25, NatB auxiliary subunit 273 cytoplasm protein binding autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 46 TCAGTCGAAAGACAGAATCGA 0.398000 4 75 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183603113 183603113 + Missense_Mutation SNP G G A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr4:183603113G>A ENST00000511685.1 + 11 2104 c.1981G>A c.(1981-1983)Gaa>Aaa p.E661K TENM3_ENST00000406950.2_Missense_Mutation_p.E661K|TENM3_ENST00000502950.1_3'UTR teneurin transmembrane protein 3 GTATCTTCAAGAAAGTGGCTC 0.502000 4 33 0 0 1 0 0 HTT 3064 broad.mit.edu 37 4 3208558 3208558 + Nonsense_Mutation SNP C C T TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr4:3208558C>T ENST00000355072.5 + 44 6068 c.5923C>T c.(5923-5925)Cag>Tag p.Q1975* NM_002111.6 NP_002102 P42858 HD_HUMAN huntingtin 1975 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) GAAAACTCTTCAGTGCTTGGA 0.458000 6 53 0 0 1 0 0 RNF10 9921 broad.mit.edu 37 12 121009011 121009011 + Missense_Mutation SNP C C G TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr12:121009011C>G ENST00000325954.4 + 14 2520 c.2059C>G c.(2059-2061)Ctg>Gtg p.L687V RNF10_ENST00000542701.1_Intron|RNF10_ENST00000413266.2_Missense_Mutation_p.L692V NM_014868.4 NP_055683.3 Q8N5U6 RNF10_HUMAN ring finger protein 10 687 negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1) 27 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GCTGACCCCTCTGTCACCCAC 0.517000 3 37 0 0 1 0 0 SRSF3 6428 broad.mit.edu 37 6 36567603 36567603 + Frame_Shift_Del DEL C C - TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr6:36567603delC ENST00000339436.7 + 4 463 c.347delC c.(346-348)accfs p.T116fs SRSF3_ENST00000373715.6_Intron P84103 SRSF3_HUMAN serine/arginine-rich splicing factor 3 0 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(2) 7 TACAGAGTCACCATCATGTCT 0.433 7 18 --- --- --- --- DPY19L2P2 349152 broad.mit.edu 37 7 102883497 102883498 + RNA INS - - A TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr7:102883497_102883498insA ENST00000312132.4 - 0 2616 AGTACCACTGTAAAAAAAAAAA 0.287 5 5 --- --- --- --- FOXE1 2304 broad.mit.edu 37 9 100616701 100616706 + In_Frame_Del DEL GCCGCC GCCGCC - rs11279082 TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr9:100616701_100616706delGCCGCC ENST00000375123.3 + 1 1166_1171 c.505_510delGCCGCC c.(505-510)gccgccdel p.AA177del NM_004473.3 NP_004464.2 O00358 FOXE1_HUMAN forkhead box E1 (thyroid transcription factor 2) 177 Ala-rich.|Poly-Ala. cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1) 5 Acute lymphoblastic leukemia(62;0.158) Ggctgccgcagccgccgccgccgccg 0.767 6 13 --- --- --- --- OTOGL 283310 broad.mit.edu 37 12 80735808 80735808 + Frame_Shift_Del DEL T T - TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr12:80735808delT ENST00000458043.2 + 43 5110 c.5104delT c.(5104-5106)tttfs p.F1702fs OTOGL_ENST00000547103.1_Frame_Shift_Del_p.F1690fs NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 CATAGGATTATTTATTGAGAG 0.343 2 4 --- --- --- --- OR4K13 390433 broad.mit.edu 37 14 20502085 20502085 + Frame_Shift_Del DEL A A - TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr14:20502085delA ENST00000315693.2 - 1 834 c.833delT c.(832-834)ttcfs p.F278fs NM_001004714.1 NP_001004714.1 Q8NH42 OR4KD_HUMAN olfactory receptor, family 4, subfamily K, member 13 278 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4) 24 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) GAGAGGTGTGAAAATTGTGTA 0.333 19 0 --- --- --- --- DNM1P47 100216544 broad.mit.edu 37 15 102292874 102292876 + RNA DEL CTC CTC - TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr15:102292874_102292876delCTC ENST00000561463.1 + 0 920_922 AGTTCATCTTCTCAGAGCTGCTG 0.581 2 4 --- --- --- --- MGRN1 23295 broad.mit.edu 37 16 4714766 4714767 + In_Frame_Ins INS - - GAAGGA TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr16:4714766_4714767insGAAGGA ENST00000399577.5 + 6 711_712 c.618_619insGAAGGA c.(619-621)gaa>GAAGGAgaa p.207_207E>EGE MGRN1_ENST00000588994.1_In_Frame_Ins_p.207_207E>EGE|MGRN1_ENST00000415496.1_In_Frame_Ins_p.207_207E>EGE|MGRN1_ENST00000262370.7_In_Frame_Ins_p.207_207E>EGE|MGRN1_ENST00000586183.1_In_Frame_Ins_p.207_207E>EGE NM_001142290.2 NP_001135762.1 O60291 MGRN1_HUMAN mahogunin ring finger 1, E3 ubiquitin protein ligase 207 endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination cytosol|early endosome|nucleus|plasma membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 CTGTGGTGGACGAAGGAGATGG 0.589 21 40 --- --- --- --- TM9SF4 9777 broad.mit.edu 37 20 30729605 30729618 + Frame_Shift_Del DEL GCTCTACTCCAACC GCTCTACTCCAACC - TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr20:30729605_30729618delGCTCTACTCCAACC ENST00000217315.5 + 5 724_737 c.384_397delGCTCTACTCCAACC c.(382-399)gagctctactccaaccgafs p.LYSNR129fs TM9SF4_ENST00000398022.2_Frame_Shift_Del_p.LYSNR146fs Q92544 TM9S4_HUMAN transmembrane 9 superfamily protein member 4 146 integral to membrane central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CCCGGCTGGAGCTCTACTCCAACCGAGACAGCGA 0.570 8 103 --- --- --- --- SCARF2 91179 broad.mit.edu 37 22 20791941 20791943 + In_Frame_Del DEL AGC AGC - TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr22:20791941_20791943delAGC ENST00000405555.3 - 1 169_171 c.99_101delGCT c.(97-102)ctgctc>ctc p.33_34LL>L SCARF2_ENST00000266214.5_In_Frame_Del_p.33_34LL>L NM_182895.2 NP_878315.1 Q96GP6 SREC2_HUMAN scavenger receptor class F, member 2 33 cell adhesion integral to membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2) 10 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) CAGCATCCAGagcagcagcagca 0.778 2 4 --- --- --- --- CHEK2 11200 broad.mit.edu 37 22 29130581 29130582 + Frame_Shift_Del DEL GG GG - TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf467e09-faf2-410c-ac6b-d156f5e5db5d 35ef7a6d-b6c9-48c9-ae87-ef42fe69933a g.chr22:29130581_29130582delGG ENST00000382580.2 - 2 203_204 c.128_129delCC c.(127-129)accfs p.T43fs CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000402731.1_Frame_Shift_Del_p.T43fs|CHEK2_ENST00000403642.1_Frame_Shift_Del_p.T43fs|CHEK2_ENST00000328354.6_Frame_Shift_Del_p.T43fs|CHEK2_ENST00000404276.1_Frame_Shift_Del_p.T43fs|CHEK2_ENST00000382565.1_Frame_Shift_Del_p.T43fs|CHEK2_ENST00000382578.1_Frame_Shift_Del_p.T43fs|CHEK2_ENST00000382566.1_Frame_Shift_Del_p.T43fs|CHEK2_ENST00000405598.1_Frame_Shift_Del_p.T43fs|CHEK2_ENST00000348295.3_Frame_Shift_Del_p.T43fs NM_001005735.1 NP_001005735.1 O96017 CHK2_HUMAN checkpoint kinase 2 43 cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 GCATCGTGCTGGTAGAGGAGCT 0.569 F breast Direct reversal of damage;Other conserved DNA damage response genes 140 25 --- --- --- ---