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 ARHGEF40 55701 broad.mit.edu 37 14 21546383 21546383 + Silent SNP A A T TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr14:21546383A>T ENST00000298694.4 + 9 2209 c.2082A>T c.(2080-2082)gtA>gtT p.V694V ARHGEF40_ENST00000298693.3_Silent_p.V694V Q8TER5 ARH40_HUMAN Rho guanine nucleotide exchange factor (GEF) 40 694 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2) 9 TGGGCTCGGTACGGCAGGCCA 0.562000 7 17 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41581999 41581999 + Missense_Mutation SNP C C A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr8:41581999C>A ENST00000396942.1 - 7 769 c.686G>T c.(685-687)gGa>gTa p.G229V ANK1_ENST00000379758.2_Missense_Mutation_p.G229V|ANK1_ENST00000265709.8_Missense_Mutation_p.G262V|ANK1_ENST00000347528.4_Missense_Mutation_p.G229V|ANK1_ENST00000396945.1_Missense_Mutation_p.G229V|ANK1_ENST00000289734.7_Missense_Mutation_p.G229V|ANK1_ENST00000352337.4_Missense_Mutation_p.G229V P16157 ANK1_HUMAN ankyrin 1, erythrocytic 229 89 kDa domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) GACGCTGGCTCCTCTGTTGAG 0.627000 10 12 4.68919e-08 5.25308e-08 1 1 0 HIST1H1E 3008 broad.mit.edu 37 6 26156697 26156697 + Missense_Mutation SNP T T A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr6:26156697T>A ENST00000304218.3 + 1 139 c.79T>A c.(79-81)Tct>Act p.S27T NM_005321.2 NP_005312.1 P10412 H14_HUMAN histone cluster 1, H1e 27 nucleosome assembly nucleosome|nucleus DNA binding|protein binding NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 26 GGCCCGCAAGTCTGCAGGTGC 0.652000 9 91 0 0 1 0 0 KIFC2 90990 broad.mit.edu 37 8 145693759 145693759 + Silent SNP C C G TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr8:145693759C>G ENST00000301332.2 + 8 1235 c.858C>G c.(856-858)gcC>gcG p.A286A KIFC2_ENST00000301331.5_Silent_p.A34A NM_145754.2 NP_665697.1 Q96AC6 KIFC2_HUMAN kinesin family member C2 286 Gln-rich. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1) 19 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) TTCAGGAGGCCCAAGACACCA 0.672000 10 8 0 0 1 0 0 OR4K17 390436 broad.mit.edu 37 14 20585813 20585813 + Missense_Mutation SNP C C A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr14:20585813C>A ENST00000315543.4 + 1 248 c.248C>A c.(247-249)aCc>aAc p.T83N NM_001004715.1 NP_001004715.1 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, member 17 55 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3) 21 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) GTGTTTAACACCCCTAACCTG 0.418000 31 257 1.06801e-11 1.26025e-11 1 1 0 GPR141 353345 broad.mit.edu 37 7 37780086 37780086 + Missense_Mutation SNP G G T TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr7:37780086G>T ENST00000447769.1 + 4 380 c.91G>T c.(91-93)Ggg>Tgg p.G31W GPR141_ENST00000334425.1_Missense_Mutation_p.G31W|GPR141_ENST00000461610.1_Intron|EPDR1_ENST00000476620.1_Intron Q7Z602 GP141_HUMAN G protein-coupled receptor 141 31 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GCTTATTGGCGGGCTGGTGGG 0.507000 20 64 5.26018e-13 6.33368e-13 1 1 0 MAGEE2 139599 broad.mit.edu 37 X 75004086 75004086 + Silent SNP C C A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chrX:75004086C>A ENST00000373359.2 - 1 993 c.801G>T c.(799-801)ctG>ctT p.L267L NM_138703.4 NP_619648.1 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 267 MAGE 1. autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 ACACAAACTTCAGGGCTTCCA 0.488000 31 11 1.88708e-17 2.36889e-17 1 1 0 NTRK2 4915 broad.mit.edu 37 9 87338593 87338593 + Nonsense_Mutation SNP G G A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr9:87338593G>A ENST00000304053.6 + 7 1172 c.689G>A c.(688-690)tGg>tAg p.W230* NTRK2_ENST00000359847.3_Nonsense_Mutation_p.W230*|NTRK2_ENST00000376214.1_Nonsense_Mutation_p.W230*|NTRK2_ENST00000323115.4_Nonsense_Mutation_p.W230*|NTRK2_ENST00000376213.1_Nonsense_Mutation_p.W230*|NTRK2_ENST00000277120.3_Nonsense_Mutation_p.W230*|NTRK2_ENST00000376208.1_Nonsense_Mutation_p.W230*|NTRK2_ENST00000395866.2_Nonsense_Mutation_p.W74*|NTRK2_ENST00000395882.1_Nonsense_Mutation_p.W230* NM_001018065.2 NP_001018075.1 Q16620 NTRK2_HUMAN neurotrophic tyrosine kinase, receptor, type 2 230 Ig-like C2-type 1. activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 46 AATATGTATTGGGATGTTGGT 0.433000 TSP Lung(25;0.17) 21 43 0 0 1 0 0 WNT16 51384 broad.mit.edu 37 7 120979121 120979121 + Missense_Mutation SNP C C A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr7:120979121C>A ENST00000222462.2 + 4 1110 c.820C>A c.(820-822)Cag>Aag p.Q274K WNT16_ENST00000361301.2_Missense_Mutation_p.Q264K NM_057168.1 NP_476509.1 Q9UBV4 WNT16_HUMAN wingless-type MMTV integration site family, member 16 274 anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled binding|signal transducer activity breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1) 18 all_neural(327;0.117) AGAAAAAGATCAGAGGAAAAT 0.373000 8 26 0.000157383 0.000166807 1 1 0 RP11-287D1.3 0 broad.mit.edu 37 2 74590199 74590199 + Missense_Mutation SNP T T C TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr2:74590199T>C ENST00000451608.2 - 2 189 c.190A>G c.(190-192)Aag>Gag p.K64E DCTN1_ENST00000394003.3_Missense_Mutation_p.K1144E|DCTN1_ENST00000409438.1_Missense_Mutation_p.K1012E|DCTN1_ENST00000409868.1_Missense_Mutation_p.K1129E|DCTN1_ENST00000407639.2_Missense_Mutation_p.K1017E|DCTN1_ENST00000409240.1_Missense_Mutation_p.K1109E|DCTN1_ENST00000409567.3_Missense_Mutation_p.K1126E|DCTN1_ENST00000361874.3_Missense_Mutation_p.K1151E TGGCTGGTCTTACGATACAGC 0.557000 5 34 0 0 1 0 0 NXF1 10482 broad.mit.edu 37 11 62562464 62562464 + Missense_Mutation SNP C C A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr11:62562464C>A ENST00000532297.1 - 19 2149 c.1520G>T c.(1519-1521)cGg>cTg p.R507L NXF1_ENST00000294172.2_Missense_Mutation_p.R507L|NXF1_ENST00000531709.2_3'UTR Q9UBU9 NXF1_HUMAN nuclear RNA export factor 1 507 NTF2. gene expression|interspecies interaction between organisms cytosol|nuclear speck nucleotide binding|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CAAAGAATCCCGGGACTTTCC 0.433000 14 30 1.49906e-05 1.61789e-05 1 1 0 EFHB 151651 broad.mit.edu 37 3 19924092 19924092 + Missense_Mutation SNP G G A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr3:19924092G>A ENST00000295824.9 - 12 2439 c.2278C>T c.(2278-2280)Cgg>Tgg p.R760W EFHB_ENST00000344838.4_Missense_Mutation_p.R630W NM_144715.3 NP_653316.3 Q8N7U6 EFHB_HUMAN EF-hand domain family, member B 760 signal transduction proteinaceous extracellular matrix calcium ion binding breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1) 26 ACTCCTTTCCGGGCAAAAATG 0.383000 5 7 0 0 1 0 0 FCRL4 83417 broad.mit.edu 37 1 157545490 157545490 + Splice_Site SNP T T A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr1:157545490T>A ENST00000271532.1 - 11 1595 c.1461_splice c.e11+1 p.K487_splice FCRL4_ENST00000448509.2_5'UTR NM_031282.2 NP_112572.1 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 487 integral to membrane|plasma membrane receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 40 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) GAAACTCACCTTATCCTCTAG 0.448000 41 69 0 0 1 0 0 C10orf129 142827 broad.mit.edu 37 10 96971762 96971762 + Missense_Mutation SNP C C T TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr10:96971762C>T ENST00000341686.3 + 6 1008 c.883C>T c.(883-885)Cca>Tca p.P295S C10orf129_ENST00000430183.1_Missense_Mutation_p.P140S|C10orf129_ENST00000394005.3_Missense_Mutation_p.P295S NM_207321.2 NP_997204.2 Q6P461 ACSM6_HUMAN chromosome 10 open reading frame 129 295 fatty acid metabolic process mitochondrion ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1) 7 Colorectal(252;0.083) Epithelial(162;1.64e-06)|all cancers(201;3.71e-05) GTGTCACATGCCAACCTTCTG 0.493000 13 31 0 0 1 0 0 SPOCK3 50859 broad.mit.edu 37 4 167675667 167675667 + Missense_Mutation SNP C C A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr4:167675667C>A ENST00000357154.3 - 9 1069 c.932G>T c.(931-933)aGa>aTa p.R311I SPOCK3_ENST00000502330.1_Missense_Mutation_p.R311I|SPOCK3_ENST00000534949.1_Missense_Mutation_p.R215I|SPOCK3_ENST00000510741.1_Missense_Mutation_p.R268I|SPOCK3_ENST00000357545.4_Missense_Mutation_p.R308I|SPOCK3_ENST00000511269.1_Missense_Mutation_p.R308I|SPOCK3_ENST00000421836.2_Missense_Mutation_p.R260I|SPOCK3_ENST00000512681.1_Missense_Mutation_p.R213I|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000512648.1_Missense_Mutation_p.R308I|SPOCK3_ENST00000506886.1_Missense_Mutation_p.R311I|SPOCK3_ENST00000511531.1_Missense_Mutation_p.R311I|SPOCK3_ENST00000504953.1_Missense_Mutation_p.R308I|SPOCK3_ENST00000541637.1_Missense_Mutation_p.R213I|SPOCK3_ENST00000541354.1_Missense_Mutation_p.R191I|SPOCK3_ENST00000535728.1_Missense_Mutation_p.R179I NM_016950.2 NP_058646.2 Q9BQ16 TICN3_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 311 signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 38 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) ACCTTGCTGTCTCTGGAAGCA 0.353000 4 49 0.00024832 0.000261623 1 1 0 MRPS21 54460 broad.mit.edu 37 1 150280578 150280578 + Missense_Mutation SNP C C G TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr1:150280578C>G ENST00000369084.5 + 2 627 c.180C>G c.(178-180)tgC>tgG p.C60W MRPS21_ENST00000309092.7_Missense_Mutation_p.C60W P82921 RT21_HUMAN mitochondrial ribosomal protein S21 60 translation mitochondrial small ribosomal subunit structural constituent of ribosome kidney(1)|large_intestine(1)|lung(1)|pancreas(1) 4 Lung NSC(24;5.57e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) ATGAAAGGTGCCGGCGGATCT 0.542000 11 54 0 0 1 0 0 LHFPL3 375612 broad.mit.edu 37 7 103969338 103969338 + Silent SNP C C A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr7:103969338C>A ENST00000535008.1 + 1 235 c.111C>A c.(109-111)ggC>ggA p.G37G LHFPL3_ENST00000543266.1_Silent_p.G37G|LHFPL3_ENST00000424859.1_Silent_p.G23G|LHFPL3_ENST00000401970.2_Silent_p.G23G Q86UP9 LHPL3_HUMAN lipoma HMGIC fusion partner-like 3 23 integral to membrane kidney(1)|large_intestine(2)|lung(6) 9 GGGCCATCGGCGTGCTGTGGG 0.677000 7 40 0.0293803 0.0300597 1 1 0 LGI2 55203 broad.mit.edu 37 4 25005336 25005336 + Missense_Mutation SNP G G A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr4:25005336G>A ENST00000382114.4 - 8 1560 c.1375C>T c.(1375-1377)Ctt>Ttt p.L459F NM_018176.3 NP_060646.2 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 459 extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2) 33 Breast(46;0.173) CGGGATGGAAGAGCTTGGATC 0.512000 49 103 0 0 1 0 0 GPR125 166647 broad.mit.edu 37 4 22390734 22390734 + Silent SNP G G A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr4:22390734G>A ENST00000334304.5 - 18 2969 c.2700C>T c.(2698-2700)taC>taT p.Y900Y GPR125_ENST00000282943.5_5'UTR NM_145290.2 NP_660333.2 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 900 neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 56 Breast(46;0.198) GCCGACTGCCGTAATTCTTAA 0.418000 42 129 0 0 1 0 0 DDR2 4921 broad.mit.edu 37 1 162740204 162740204 + Missense_Mutation SNP C C T TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr1:162740204C>T ENST00000367922.2 + 13 1844 c.1406C>T c.(1405-1407)tCg>tTg p.S469L DDR2_ENST00000367921.3_Missense_Mutation_p.S469L NM_001014796.1 NP_001014796.1 Q16832 DDR2_HUMAN discoidin domain receptor tyrosine kinase 2 469 cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1) 7 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) GGGTCCAACTCGACTTACGAT 0.507000 26 74 0 0 1 0 0 BLOC1S5-TXNDC5 100526836 broad.mit.edu 37 6 7904823 7904823 + Missense_Mutation SNP C C T TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr6:7904823C>T ENST00000539054.1 - 2 180 c.181G>A c.(181-183)Gtg>Atg p.V61M BLOC1S5-TXNDC5_ENST00000604490.1_Missense_Mutation_p.V25M|TXNDC5_ENST00000379757.4_Missense_Mutation_p.V133M|TXNDC5_ENST00000473453.1_Missense_Mutation_p.V25M TATCCTCGCACCCCCTGGGCG 0.527000 26 42 0 0 1 0 0 THEG 51298 broad.mit.edu 37 19 362256 362256 + Missense_Mutation SNP A A T TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr19:362256A>T ENST00000342640.4 - 8 1126 c.1084T>A c.(1084-1086)Ttg>Atg p.L362M THEG_ENST00000346878.2_Missense_Mutation_p.L338M NM_016585.4 NP_057669.1 Q9P2T0 THEG_HUMAN theg spermatid protein 362 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) GGGGGTGGCAAGCTCATAGAG 0.607000 7 105 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103385904 103385904 + Missense_Mutation SNP G G T TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr1:103385904G>T ENST00000358392.2 - 49 4078 c.3761C>A c.(3760-3762)cCa>cAa p.P1254Q COL11A1_ENST00000370096.3_Missense_Mutation_p.P1242Q|COL11A1_ENST00000353414.4_Missense_Mutation_p.P1203Q|COL11A1_ENST00000512756.1_Missense_Mutation_p.P1126Q NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1242 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) AACAGACCCTGGGGGTCCTTG 0.358000 53 51 1.19403e-26 1.65112e-26 1 1 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. 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 p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 5 44 0 0 1 0 0 TNC 3371 broad.mit.edu 37 9 117791723 117791723 + Missense_Mutation SNP G G A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr9:117791723G>A ENST00000350763.4 - 25 6496 c.6085C>T c.(6085-6087)Cgc>Tgc p.R2029C TNC_ENST00000537320.1_Missense_Mutation_p.R1392C|TNC_ENST00000423613.2_Missense_Mutation_p.R1756C|TNC_ENST00000345230.3_Missense_Mutation_p.R1392C|TNC_ENST00000341037.4_Missense_Mutation_p.R1847C|TNC_ENST00000340094.3_Missense_Mutation_p.R1665C|TNC_ENST00000535648.1_Missense_Mutation_p.R1574C|TNC_ENST00000346706.3_Missense_Mutation_p.R1483C|TNC_ENST00000542877.1_Missense_Mutation_p.R1666C NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 2029 Fibrinogen C-terminal. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 CCGTTTTTGCGTCTCAGGAAC 0.488000 21 64 0 0 1 0 0 HADHB 3032 broad.mit.edu 37 2 26486306 26486306 + Silent SNP G G T TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr2:26486306G>T ENST00000317799.5 + 4 272 c.168G>T c.(166-168)gtG>gtT p.V56V HADHB_ENST00000545822.1_Silent_p.V34V|HADHB_ENST00000537713.1_Silent_p.V56V|HADHB_ENST00000405867.3_Silent_p.V56V|HADHB_ENST00000494615.1_3'UTR NM_000183.2 NP_000174.1 P55084 ECHB_HUMAN hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit 56 fatty acid beta-oxidation mitochondrial nucleoid 3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATGTTGTGGTGGTGGATGGTG 0.338000 27 73 7.01153e-11 8.05871e-11 1 1 0 LRRIQ1 84125 broad.mit.edu 37 12 85449856 85449856 + Nonsense_Mutation SNP G G T TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr12:85449856G>T ENST00000393217.2 + 8 1346 c.1285G>T c.(1285-1287)Gaa>Taa p.E429* NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 429 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) TCTAGTGGATGAAAATTCAAA 0.299000 32 75 3.11337e-16 3.85362e-16 1 1 0 MCTP2 55784 broad.mit.edu 37 15 94943177 94943177 + Missense_Mutation SNP C C G TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr15:94943177C>G ENST00000357742.4 + 15 1918 c.1918C>G c.(1918-1920)Ccc>Gcc p.P640A MCTP2_ENST00000451018.3_Missense_Mutation_p.P640A|MCTP2_ENST00000331706.4_Missense_Mutation_p.P228A|MCTP2_ENST00000557742.1_Missense_Mutation_p.P228A NM_018349.3 NP_060819.3 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 640 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) GACTTTTACTCCCCGGGAAAA 0.463000 6 100 0 0 1 0 0 RTEL1 51750 broad.mit.edu 37 20 62298882 62298882 + Silent SNP G G T TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr20:62298882G>T ENST00000318100.4 + 8 1502 c.675G>T c.(673-675)ccG>ccT p.P225P RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.P225P|RTEL1_ENST00000360203.5_Silent_p.P225P|RTEL1_ENST00000370018.3_Silent_p.P225P|RTEL1_ENST00000508582.2_Silent_p.P249P Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 225 Helicase ATP-binding. DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding p.P225P(1) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) TATTCATGCCGTACAATTACT 0.572000 26 378 2.49675e-24 3.37347e-24 1 1 0 B3GAT2 135152 broad.mit.edu 37 6 71665907 71665907 + Missense_Mutation SNP C C T TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr6:71665907C>T ENST00000230053.6 - 1 834 c.226G>A c.(226-228)Gag>Aag p.E76K NM_080742.2 NP_542780.1 Q9NPZ5 B3GA2_HUMAN beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S) 76 carbohydrate biosynthetic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1) 16 AGCTGCGGCTCCGGCTGTGGC 0.731000 5 24 0 0 1 0 0 KIAA1109 84162 broad.mit.edu 37 4 123252502 123252502 + Silent SNP A A G TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr4:123252502A>G ENST00000264501.4 + 67 11644 c.11271A>G c.(11269-11271)gcA>gcG p.A3757A KIAA1109_ENST00000388738.3_Silent_p.A3757A Q2LD37 K1109_HUMAN KIAA1109 3757 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 GTAAAAAAGCAACAGGCTTTG 0.363000 8 7 0 0 1 0 0 LGALS2 3957 broad.mit.edu 37 22 37966361 37966361 + Missense_Mutation SNP A A T TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr22:37966361A>T ENST00000215886.4 - 4 482 c.308T>A c.(307-309)cTg>cAg p.L103Q NM_006498.2 NP_006489.1 P05162 LEG2_HUMAN lectin, galactoside-binding, soluble, 2 103 Galectin. breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1) 11 Melanoma(58;0.0574) GGGAAAAGTCAGCTCGTGCCC 0.527000 6 38 0 0 1 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117420573 117420573 + Silent SNP G G A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr7:117420573G>A ENST00000160373.3 - 7 2536 c.2445C>T c.(2443-2445)taC>taT p.Y815Y NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 815 breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) TACAGGCCAGGTATAGAGGTG 0.343000 13 60 0 0 1 0 0 PLEKHA8P1 51054 broad.mit.edu 37 12 45567064 45567064 + RNA SNP C C G rs146414684 byFrequency TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr12:45567064C>G ENST00000256692.5 - 0 1621 NR_037144.1 breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 AGCTTCTTTCCGGTGGTCACC 0.498000 36 76 0 0 1 0 0 KCTD16 57528 broad.mit.edu 37 5 143853423 143853423 + Missense_Mutation SNP C C T TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr5:143853423C>T ENST00000507359.2 + 3 2124 c.1033C>T c.(1033-1035)Ccc>Tcc p.P345S KCTD16_ENST00000512467.1_Missense_Mutation_p.P345S NM_020768.3 NP_065819.1 Q68DU8 KCD16_HUMAN potassium channel tetramerization domain containing 16 345 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 21 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) TCTGGACCGTCCCATCAAGAA 0.582000 7 72 0 0 1 0 0 PRKCB 5579 broad.mit.edu 37 16 23848702 23848702 + Silent SNP C C T TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr16:23848702C>T ENST00000303531.7 + 2 332 c.180C>T c.(178-180)ttC>ttT p.F60F PRKCB_ENST00000321728.7_Silent_p.F60F|PRKCB_ENST00000498058.1_Intron NM_002738.6 NP_002729.2 P05771 KPCB_HUMAN protein kinase C, beta 60 apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) GCAGGGGCTTCGGGAAGCAGG 0.557000 27 174 0 0 1 0 0 COL3A1 1281 broad.mit.edu 37 2 189872832 189872832 + Silent SNP A A T TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr2:189872832A>T ENST00000304636.3 + 47 3659 c.3489A>T c.(3487-3489)ccA>ccT p.P1163P COL3A1_ENST00000317840.5_Silent_p.P860P NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 1163 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) TTGGACCACCAGGGCCTCGAG 0.458000 9 17 0 0 1 0 0 DLGAP4 22839 broad.mit.edu 37 20 35064606 35064606 + Missense_Mutation SNP G G T TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr20:35064606G>T ENST00000373913.3 + 4 1574 c.1094G>T c.(1093-1095)cGc>cTc p.R365L DLGAP4_ENST00000339266.5_Missense_Mutation_p.R365L|DLGAP4_ENST00000401952.2_Missense_Mutation_p.R365L|DLGAP4_ENST00000373907.2_Missense_Mutation_p.R365L Q9Y2H0 DLGP4_HUMAN discs, large (Drosophila) homolog-associated protein 4 365 cell-cell signaling membrane protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) CGGCGCATGCGCAGCGGCAGC 0.741000 3 14 0.115264 0.115919 1 1 0 SH3BP4 23677 broad.mit.edu 37 2 235951476 235951476 + Missense_Mutation SNP A A T TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr2:235951476A>T ENST00000409212.1 + 4 2570 c.2063A>T c.(2062-2064)gAg>gTg p.E688V SH3BP4_ENST00000344528.4_Missense_Mutation_p.E688V|SH3BP4_ENST00000392011.2_Missense_Mutation_p.E688V Q9P0V3 SH3B4_HUMAN SH3-domain binding protein 4 688 endocytosis clathrin-coated vesicle|coated pit|nucleus protein binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2) 44 Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419) Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237) CTGCTCAGCGAGGAGCGGGTC 0.607000 23 37 0 0 1 0 0 ITIH6 347365 broad.mit.edu 37 X 54783699 54783699 + Silent SNP G G T TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chrX:54783699G>T ENST00000218436.6 - 8 2837 c.2808C>A c.(2806-2808)ccC>ccA p.P936P NM_198510.2 NP_940912.1 Q6UXX5 ITH5L_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 6 936 Pro-rich. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ACCTTCCAGGGGGCAGAGTGG 0.562000 15 6 4.7546e-09 5.42945e-09 1 1 0 TRPA1 8989 broad.mit.edu 37 8 72975067 72975067 + Nonsense_Mutation SNP G G T TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr8:72975067G>T ENST00000262209.4 - 6 981 c.774C>A c.(772-774)tgC>tgA p.C258* NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 258 integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) CATTGTCCAGGCACATTTTGA 0.378000 23 88 3.28513e-13 3.98265e-13 1 1 0 IFT88 8100 broad.mit.edu 37 13 21190012 21190012 + Missense_Mutation SNP A A G TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr13:21190012A>G ENST00000382778.4 + 15 2338 c.1220A>G c.(1219-1221)tAt>tGt p.Y407C IFT88_ENST00000537103.1_Missense_Mutation_p.Y379C|IFT88_ENST00000461115.1_3'UTR|IFT88_ENST00000351808.5_Missense_Mutation_p.Y398C|IFT88_ENST00000319980.6_Missense_Mutation_p.Y407C Q13099 IFT88_HUMAN intraflagellar transport 88 homolog (Chlamydomonas) 407 Y -> C (in Ref. 1; AAA86720). cilium morphogenesis centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 27 all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244) all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528) GCTGCAGGTTATGATTGGTAA 0.279000 10 27 0 0 1 0 0 ADRBK2 157 broad.mit.edu 37 22 26091116 26091116 + Silent SNP G G T TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr22:26091116G>T ENST00000324198.5 + 13 1287 c.1095G>T c.(1093-1095)ggG>ggT p.G365G NM_005160.3 NP_005151.2 P35626 ARBK2_HUMAN adrenergic, beta, receptor kinase 2 365 Protein kinase. ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2) 32 Adenosine triphosphate(DB00171) TGCAGAAGGGGACGGCCTATG 0.512000 29 50 3.73148e-12 4.43269e-12 1 1 0 NF1 4763 broad.mit.edu 37 17 29677299 29677299 + Missense_Mutation SNP G G A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr17:29677299G>A ENST00000358273.4 + 50 7803 c.7420G>A c.(7420-7422)Gat>Aat p.D2474N NF1_ENST00000417592.2_Missense_Mutation_p.D187N|NF1_ENST00000356175.3_Missense_Mutation_p.D2453N|NF1_ENST00000444181.2_Missense_Mutation_p.D267N NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 2474 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) 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) TGTTCCTATGGATACATATCC 0.348000 """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) 8 70 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7721687 7721687 + Missense_Mutation SNP G G A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr17:7721687G>A ENST00000572933.1 + 69 11905 c.10445G>A c.(10444-10446)cGt>cAt p.R3482H DNAH2_ENST00000389173.2_Missense_Mutation_p.R3482H Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 3482 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) ACCAATTTCCGTTTCTACATC 0.522000 77 93 0 0 1 0 0 CSTF3 1479 broad.mit.edu 37 11 33127179 33127179 + Silent SNP T T C TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr11:33127179T>C ENST00000323959.4 - 8 658 c.519A>G c.(517-519)caA>caG p.Q173Q TCP11L1_ENST00000324357.9_3'UTR NM_001326.2 NP_001317.1 Q12996 CSTF3_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa 173 mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm protein binding|RNA binding breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1) 19 CACAACCTCGTTGATAAACTC 0.353000 23 33 0 0 1 0 0 MORN1 79906 broad.mit.edu 37 1 2268207 2268207 + Silent SNP C C T TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr1:2268207C>T ENST00000378531.3 - 11 1292 c.1119G>A c.(1117-1119)ggG>ggA p.G373G MORN1_ENST00000606372.1_5'UTR NM_024848.1 NP_079124.1 Q5T089 MORN1_HUMAN MORN repeat containing 1 373 breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2) 9 all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212) GCGGGGGCGGCCCCAGGAGGA 0.662000 5 10 0 0 1 0 0 VAV1 7409 broad.mit.edu 37 19 6828653 6828653 + Silent SNP C C T TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr19:6828653C>T ENST00000304076.2 + 12 1207 c.1113C>T c.(1111-1113)aaC>aaT p.N371N VAV1_ENST00000539284.1_Silent_p.N274N|VAV1_ENST00000602142.1_Silent_p.N371N|VAV1_ENST00000599806.1_Silent_p.N316N|VAV1_ENST00000596764.1_Silent_p.N339N NM_001258206.1 NP_001245135.1 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 371 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 AGTGCGTGAACGAGGTCAAGC 0.637000 12 176 0 0 1 0 0 TRBV27 28560 broad.mit.edu 37 7 142423650 142423650 + RNA SNP C C A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr7:142423650C>A ENST00000506718.1 + 0 658 TRBV27_ENST00000390399.3_RNA CGCCCAGCCCCAACCAGACCT 0.507000 4 34 0.014758 0.0153657 1 1 0 SEMA4C 54910 broad.mit.edu 37 2 97527481 97527481 + Missense_Mutation SNP G G A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr2:97527481G>A ENST00000305476.5 - 13 1726 c.1594C>T c.(1594-1596)Cac>Tac p.H532Y NM_017789.4 NP_060259.4 Q9C0C4 SEM4C_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C 532 PSI. muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane receptor activity NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 17 CACCCAGAGTGGCCACCCACG 0.617000 18 97 0 0 1 0 0 CD5L 922 broad.mit.edu 37 1 157804213 157804213 + Silent SNP C C T rs74121553 byFrequency TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr1:157804213C>T ENST00000368174.4 - 4 798 c.702G>A c.(700-702)acG>acA p.T234T NM_005894.2 NP_005885.1 O43866 CD5L_HUMAN CD5 molecule-like 234 SRCR 2. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 52 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) ATTCGACCCACGTGTCTTCAT 0.463000 10 27 0 0 1 0 0 TMEM132C 92293 broad.mit.edu 37 12 128899854 128899854 + Silent SNP G G C TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr12:128899854G>C ENST00000435159.2 + 2 663 c.663G>C c.(661-663)ccG>ccC p.P221P NM_001136103.2 NP_001129575.2 Q8N3T6 T132C_HUMAN transmembrane protein 132C 221 integral to membrane breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1) 13 TGGACCAGCCGGAGGGGACCC 0.662000 3 7 0 0 1 0 0 PGK2 5232 broad.mit.edu 37 6 49754723 49754723 + Missense_Mutation SNP G G T TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr6:49754723G>T ENST00000304801.3 - 1 330 c.178C>A c.(178-180)Ctt>Att p.L60I NM_138733.4 NP_620061.2 P07205 PGK2_HUMAN phosphoglycerate kinase 2 60 glycolysis cytosol ATP binding|phosphoglycerate kinase activity autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) TGACTCATAAGAACTACTGCC 0.478000 41 75 1.04594e-18 1.33188e-18 1 1 0 PSMA8 143471 broad.mit.edu 37 18 23724603 23724603 + Silent SNP G G A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr18:23724603G>A ENST00000308268.6 + 2 272 c.183G>A c.(181-183)gtG>gtA p.V61V PSMA8_ENST00000343848.6_Intron|PSMA8_ENST00000415576.2_Silent_p.V61V NM_001025096.1|NM_144662.2 NP_001020267.1|NP_653263.2 Q8TAA3 PSA7L_HUMAN proteasome (prosome, macropain) subunit, alpha type, 8 61 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|M/G1 transition of mitotic cell cycle|mRNA metabolic process|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, alpha-subunit complex threonine-type endopeptidase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2) 16 all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124) OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181) AAAGAACTGTGAGGAAAATTT 0.398000 10 60 0 0 1 0 0 CADPS 8618 broad.mit.edu 37 3 62502316 62502316 + Missense_Mutation SNP T T A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr3:62502316T>A ENST00000383710.4 - 15 2745 c.2396A>T c.(2395-2397)tAt>tTt p.Y799F CADPS_ENST00000357948.3_Missense_Mutation_p.Y782F|CADPS_ENST00000283269.9_Missense_Mutation_p.Y799F NM_003716.3 NP_003707.2 Q9ULU8 CAPS1_HUMAN Ca++-dependent secretion activator 799 Interaction with DRD2. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2) 92 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) TGGAAAGCAATACCTAAAAAA 0.343000 12 25 0 0 1 0 0 TNFSF10 8743 broad.mit.edu 37 3 172241058 172241058 + Silent SNP G G A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr3:172241058G>A ENST00000241261.2 - 1 239 c.117C>T c.(115-117)acC>acT p.T39T TNFSF10_ENST00000420541.2_Silent_p.T39T NM_003810.3 NP_003801.1 P50591 TNF10_HUMAN tumor necrosis factor (ligand) superfamily, member 10 39 activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane|soluble fraction cytokine activity|metal ion binding|tumor necrosis factor receptor binding breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4) 15 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) TCAGCTCGTTGGTAAAGTACA 0.547000 7 96 0 0 1 0 0 PCDHB4 56131 broad.mit.edu 37 5 140503745 140503745 + Missense_Mutation SNP G G A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr5:140503745G>A ENST00000194152.1 + 1 2165 c.2165G>A c.(2164-2166)gGt>gAt p.G722D NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 722 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCCTCGGTGGGTCGCTGCTCG 0.672000 60 192 0 0 1 0 0 GDF9 2661 broad.mit.edu 37 5 132200160 132200160 + Silent SNP G G A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr5:132200160G>A ENST00000378673.2 - 2 932 c.66C>T c.(64-66)agC>agT p.S22S GDF9_ENST00000296875.2_Silent_p.S22S|GDF9_ENST00000464378.1_Intron O60383 GDF9_HUMAN growth differentiation factor 9 22 female gamete generation|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 22 all_cancers(142;0.105)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GAGAACCAAGGCTAATAGGAA 0.493000 OREG0003471 type=REGULATORY REGION|Gene=GDF9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 6 78 0 0 1 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296369 39296369 + Missense_Mutation SNP C C A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr17:39296369C>A ENST00000345847.4 - 1 370 c.371G>T c.(370-372)tGc>tTc p.C124F NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 120 29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 GGACCTGCAGCACCTGGACAC 0.652000 12 41 5.50884e-06 5.98199e-06 1 1 0 TPST1 8460 broad.mit.edu 37 7 65705780 65705780 + Missense_Mutation SNP G G A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr7:65705780G>A ENST00000304842.5 + 2 793 c.368G>A c.(367-369)cGc>cAc p.R123H TPST1_ENST00000480281.1_Intron NM_003596.3 NP_003587.1 O60507 TPST1_HUMAN tyrosylprotein sulfotransferase 1 123 inflammatory response|peptidyl-tyrosine sulfation Golgi membrane|integral to membrane|membrane fraction protein-tyrosine sulfotransferase activity NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 11 GAGAAGATCCGCCTGGATGAG 0.507000 5 56 0 0 1 0 0 TPRKB 51002 broad.mit.edu 37 2 73961682 73961682 + Missense_Mutation SNP A A C TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr2:73961682A>C ENST00000318190.7 - 2 135 c.15T>G c.(13-15)caT>caG p.H5Q TPRKB_ENST00000409716.2_Missense_Mutation_p.H5Q|TPRKB_ENST00000272424.5_Missense_Mutation_p.H5Q Q9Y3C4 TPRKB_HUMAN TP53RK binding protein 5 protein catabolic process cytosol|nucleus protein kinase binding lung(2)|ovary(1)|skin(1) 4 GGTCCAGCTGATGTGTTAACT 0.383000 7 57 0 0 1 0 0 PCDHA11 56138 broad.mit.edu 37 5 140250404 140250404 + Silent SNP G G A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr5:140250404G>A ENST00000398640.2 + 1 1716 c.1716G>A c.(1714-1716)gcG>gcA p.A572A PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron NM_018902.3 NP_061725.1 breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGGCAGCGCGGGAGGCGCAG 0.682000 19 164 0 0 1 0 0 MEOX1 4222 broad.mit.edu 37 17 41738630 41738630 + Missense_Mutation SNP G G A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr17:41738630G>A ENST00000549132.1 - 1 301 c.185C>T c.(184-186)cCc>cTc p.P62L MEOX1_ENST00000329168.3_Silent_p.S91S|MEOX1_ENST00000393661.2_5'UTR|MEOX1_ENST00000318579.4_Silent_p.S91S P50221 MEOX1_HUMAN mesenchyme homeobox 1 39 nucleus sequence-specific DNA binding NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 8 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.0753) GCCAGTTGGGGGACTGTGGGA 0.667000 10 110 0 0 1 0 0 VEGFC 7424 broad.mit.edu 37 4 177632711 177632711 + Missense_Mutation SNP C C A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr4:177632711C>A ENST00000280193.2 - 4 1061 c.646G>T c.(646-648)Gat>Tat p.D216Y VEGFC_ENST00000507638.1_5'UTR NM_005429.2 NP_005420.1 P49767 VEGFC_HUMAN vascular endothelial growth factor C 216 angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2) 41 Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397) CTGTAAACATCCAGTTTAGAC 0.393000 30 19 1.08312e-15 1.33134e-15 1 1 0 ARHGAP5 394 broad.mit.edu 37 14 32563191 32563191 + Missense_Mutation SNP G G C TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr14:32563191G>C ENST00000345122.3 + 2 3631 c.3316G>C c.(3316-3318)Gat>Cat p.D1106H ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.D1106H|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.D1106H|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.D1106H NM_001030055.1 NP_001025226.1 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 1106 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4) 55 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) GGGCTATTCTGATGAGATTTA 0.388000 23 107 0 0 1 0 0 ZNF430 80264 broad.mit.edu 37 19 21240746 21240746 + Silent SNP A A G TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr19:21240746A>G ENST00000261560.5 + 5 1813 c.1632A>G c.(1630-1632)gaA>gaG p.E544E NM_001172671.1|NM_025189.3 NP_001166142.1|NP_079465.3 Q9H8G1 ZN430_HUMAN zinc finger protein 430 544 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 23 ACAACTGTGAAGAATACGGCA 0.378000 7 34 0 0 1 0 0 GRB10 2887 broad.mit.edu 37 7 50682474 50682474 + Missense_Mutation SNP C C T TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr7:50682474C>T ENST00000403097.1 - 11 1850 c.1070G>A c.(1069-1071)tGc>tAc p.C357Y GRB10_ENST00000402578.1_Missense_Mutation_p.C305Y|GRB10_ENST00000357271.5_Missense_Mutation_p.C317Y|GRB10_ENST00000439599.1_Missense_Mutation_p.C357Y|GRB10_ENST00000402497.1_Missense_Mutation_p.C305Y|GRB10_ENST00000406641.1_Missense_Mutation_p.C305Y|GRB10_ENST00000335866.3_Missense_Mutation_p.C305Y|GRB10_ENST00000401949.1_Missense_Mutation_p.C363Y|GRB10_ENST00000398810.2_Missense_Mutation_p.C305Y|GRB10_ENST00000407526.1_Missense_Mutation_p.C305Y|GRB10_ENST00000398812.2_Missense_Mutation_p.C363Y Q13322 GRB10_HUMAN growth factor receptor-bound protein 10 363 PH. insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway cytosol|plasma membrane insulin receptor binding|SH3/SH2 adaptor activity NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 41 Glioma(55;0.08)|all_neural(89;0.245) TACCTTTATGCAGAGCCCGTG 0.582000 Russell-Silver syndrome 10 90 0 0 1 0 0 CDKN2AIP 55602 broad.mit.edu 37 4 184366803 184366803 + Missense_Mutation SNP A A G TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr4:184366803A>G ENST00000504169.1 + 2 595 c.388A>G c.(388-390)Ata>Gta p.I130V CDKN2AIP_ENST00000506835.1_Intron|CDKN2AIP_ENST00000302350.4_Intron|CDKN2AIP_ENST00000510928.1_Missense_Mutation_p.I130V NM_017632.2 NP_060102.1 Q9NXV6 CARF_HUMAN CDKN2A interacting protein 130 negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability granular component|nucleoplasm double-stranded RNA binding|p53 binding endometrium(1)|kidney(2)|large_intestine(2)|lung(1) 6 all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) GAAAAGAGGGATATCGAGTAG 0.343000 10 29 0 0 1 0 0 ABCC12 94160 broad.mit.edu 37 16 48174751 48174751 + Silent SNP G G A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr16:48174751G>A ENST00000311303.3 - 4 849 c.504C>T c.(502-504)gcC>gcT p.A168A ABCC12_ENST00000448542.1_Silent_p.A168A|ABCC12_ENST00000416054.1_Silent_p.A168A NM_033226.2 NP_150229.2 Q96J65 MRP9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 12 168 ABC transmembrane type-1 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) TGGCAAAAAGGGCTATGCACA 0.542000 7 103 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117376377 117376377 + Silent SNP C C A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr11:117376377C>A ENST00000321322.6 - 9 2035 c.2034G>T c.(2032-2034)gtG>gtT p.V678V DSCAML1_ENST00000527706.1_Silent_p.V408V NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 618 Ig-like C2-type 7. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CCGAGGACACCACACAGGGAA 0.612000 18 10 2.94398e-08 3.34029e-08 1 1 0 SPINT1 6692 broad.mit.edu 37 15 41146707 41146707 + Silent SNP T T A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr15:41146707T>A ENST00000344051.4 + 7 1335 c.1101T>A c.(1099-1101)gcT>gcA p.A367A SPINT1_ENST00000562057.1_Silent_p.A351A|SPINT1_ENST00000431806.1_Silent_p.A351A O43278 SPIT1_HUMAN serine peptidase inhibitor, Kunitz type 1 367 LDL-receptor class A. extracellular region|membrane fraction protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 16 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166) CCGACGAGGCTGCCTGTGAAA 0.632000 9 41 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9089747 9089747 + Missense_Mutation SNP A A T TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr19:9089747A>T ENST00000397910.4 - 1 2271 c.2068T>A c.(2068-2070)Ttc>Atc p.F690I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 690 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CCTTCCCTGAAAGCTGAGGAC 0.507000 30 26 0 0 1 0 0 SRP54 6729 broad.mit.edu 37 14 35497312 35497312 + Missense_Mutation SNP A A T TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr14:35497312A>T ENST00000556994.1 + 16 1743 c.1346A>T c.(1345-1347)aAt>aTt p.N449I SRP54_ENST00000546080.1_Missense_Mutation_p.N400I|SRP54_ENST00000216774.6_Missense_Mutation_p.N449I|SRP54_ENST00000555557.1_Missense_Mutation_p.N385I P61011 SRP54_HUMAN signal recognition particle 54kDa 449 M-domain. GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 14 Breast(36;0.0545)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243) GBM - Glioblastoma multiforme(112;0.0396) ATGTCTAAGAATGTGAGCCAG 0.388000 9 117 0 0 1 0 0 DZANK1 55184 broad.mit.edu 37 20 18370471 18370471 + Splice_Site SNP C C A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr20:18370471C>A ENST00000357236.4 - 20 2209 c.1548_splice c.e20-1 p.G517_splice DZANK1_ENST00000487128.1_5'UTR|DZANK1_ENST00000262547.5_Splice_Site_p.G631_splice|DZANK1_ENST00000377630.5_Splice_Site_p.G464_splice|DZANK1_ENST00000329494.5_Splice_Site_p.G609_splice Q9NVP4 CT012_HUMAN double zinc ribbon and ankyrin repeat domains 1 458 intracellular zinc ion binding NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10) 19 GGGGTCTGCTCCCTGCAGCAA 0.488000 46 100 8.28887e-21 1.08676e-20 1 1 0 COL6A3 1293 broad.mit.edu 37 2 238277227 238277227 + Missense_Mutation SNP T T C TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr2:238277227T>C ENST00000295550.4 - 10 5331 c.4879A>G c.(4879-4881)Acc>Gcc p.T1627A COL6A3_ENST00000353578.4_Missense_Mutation_p.T1421A|COL6A3_ENST00000347401.3_Missense_Mutation_p.T1426A|COL6A3_ENST00000346358.4_Missense_Mutation_p.T1427A|COL6A3_ENST00000409809.1_Missense_Mutation_p.T1421A|COL6A3_ENST00000472056.1_Missense_Mutation_p.T1020A NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1627 Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GGAGGAGGGGTGTCCACCCCT 0.478000 12 49 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000404276.1_Silent_p.S372S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. 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 p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 5 43 0 0 1 0 0 CPS1 1373 broad.mit.edu 37 2 211512729 211512729 + Missense_Mutation SNP T T C TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr2:211512729T>C ENST00000233072.5 + 26 3480 c.3284T>C c.(3283-3285)gTc>gCc p.V1095A CPS1_ENST00000451903.2_Missense_Mutation_p.V644A|CPS1_ENST00000430249.2_Missense_Mutation_p.V1101A NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 1095 ATP-grasp 2. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) TTCTCAGCTGTCTTGGATGAG 0.468000 7 62 0 0 1 0 0 CTNNA3 29119 broad.mit.edu 37 10 68138983 68138983 + Silent SNP A A T TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr10:68138983A>T ENST00000433211.1 - 12 1833 c.1659T>A c.(1657-1659)ggT>ggA p.G553G CTNNA3_ENST00000373744.4_Silent_p.G553G NM_013266.2 NP_037398.2 Q9UI47 CTNA3_HUMAN catenin (cadherin-associated protein), alpha 3 553 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 TGTCCATTTCACCCGTGACGA 0.483000 25 69 0 0 1 0 0 PSG8 440533 broad.mit.edu 37 19 43259343 43259343 + Missense_Mutation SNP C C A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr19:43259343C>A ENST00000404209.4 - 4 881 c.785G>T c.(784-786)tGt>tTt p.C262F PSG8_ENST00000406636.3_Missense_Mutation_p.C140F|PSG8_ENST00000306511.4_Missense_Mutation_p.C262F|PSG8_ENST00000401467.2_Missense_Mutation_p.C169F|PSG8_ENST00000600709.1_Intron NM_001130167.1 NP_001123639.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 262 Ig-like C2-type 2. extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) CTTAGGTTCACAGGTGAAGTT 0.473000 37 147 2.2871e-25 3.11397e-25 1 1 0 IMPDH2 3615 broad.mit.edu 37 3 49062560 49062560 + Splice_Site SNP T T A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr3:49062560T>A ENST00000326739.4 - 10 1188 c.1150_splice c.e10+1 p.T383_splice NM_000884.2 NP_000875.2 P12268 IMDH2_HUMAN IMP (inosine 5'-monophosphate) dehydrogenase 2 383 GMP biosynthetic process|purine base metabolic process cytosol|nucleus IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157) GGGCCTCACCTGTGGAGGCCC 0.572000 13 53 0 0 1 0 0 IRF4 3662 broad.mit.edu 37 6 401621 401621 + Missense_Mutation SNP G G A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr6:401621G>A ENST00000380956.4 + 7 1069 c.943G>A c.(943-945)Gtg>Atg p.V315M NM_001195286.1|NM_002460.3 NP_001182215.1|NP_002451.2 Q15306 IRF4_HUMAN interferon regulatory factor 4 315 interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway cytoplasm DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2) 5 Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702) GGAGAGGGGCGTGGTCCTCTG 0.617000 T IGH@ MM 20 23 0 0 1 0 0 PCDHA9 9752 broad.mit.edu 37 5 140229771 140229771 + Missense_Mutation SNP C C T TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr5:140229771C>T ENST00000378122.3 + 1 2415 c.1691C>T c.(1690-1692)gCg>gTg p.A564V PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.A564V|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_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) AATGCGCCGGCGCTGCTGACA 0.692000 9 101 0 0 1 0 0 TRIB3 57761 broad.mit.edu 37 20 377234 377234 + Missense_Mutation SNP G G A rs146704824 TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr20:377234G>A ENST00000217233.3 + 4 1530 c.977G>A c.(976-978)cGa>cAa p.R326Q TRIB3_ENST00000422053.2_Missense_Mutation_p.R353Q NM_021158.3 NP_066981.2 Q96RU7 TRIB3_HUMAN tribbles pseudokinase 3 326 apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent cytosol|nucleus|plasma membrane ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1) 21 all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231) Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112) GCCCCAACCCGATCCCATCTC 0.642000 12 88 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138449668 138449668 + Missense_Mutation SNP T T A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr4:138449668T>A ENST00000344876.4 - 3 3090 c.2704A>T c.(2704-2706)Agc>Tgc p.S902C PCDH18_ENST00000412923.2_Missense_Mutation_p.S901C|PCDH18_ENST00000511115.1_Missense_Mutation_p.S82C|PCDH18_ENST00000510305.1_Missense_Mutation_p.S113C|PCDH18_ENST00000507846.1_Missense_Mutation_p.S681C NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 902 Interaction with DAB1 (By similarity). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) AACAGGTCGCTGAATCCTTCA 0.443000 15 110 0 0 1 0 0 TXLNG 55787 broad.mit.edu 37 X 16855748 16855748 + Missense_Mutation SNP C C G TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chrX:16855748C>G ENST00000380122.5 + 8 1153 c.1092C>G c.(1090-1092)ttC>ttG p.F364L TXLNG_ENST00000398155.4_Missense_Mutation_p.F232L NM_018360.2 NP_060830.2 Q9NUQ3 TXLNG_HUMAN taxilin gamma 364 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nuclear membrane breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 15 TTGAAGAATTCCAGACTACCA 0.313000 5 16 0 0 1 0 0 MYT1L 23040 broad.mit.edu 37 2 1893093 1893093 + Missense_Mutation SNP C C A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr2:1893093C>A ENST00000399161.2 - 16 3187 c.2440G>T c.(2440-2442)Ggc>Tgc p.G814C MYT1L_ENST00000428368.2_Missense_Mutation_p.G812C NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 814 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) CAGCAGTCGCCCTCGCCCAGC 0.587000 21 41 1.2644e-06 1.38148e-06 1 1 0 RALYL 138046 broad.mit.edu 37 8 85441638 85441638 + Missense_Mutation SNP C C A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr8:85441638C>A ENST00000521268.1 + 2 1187 c.82C>A c.(82-84)Cta>Ata p.L28I RALYL_ENST00000518566.1_Missense_Mutation_p.L28I|RALYL_ENST00000517638.1_Missense_Mutation_p.L41I|RALYL_ENST00000522455.1_Missense_Mutation_p.L28I|RALYL_ENST00000521695.1_Missense_Mutation_p.L28I NM_173848.5 NP_776247.3 Q86SE5 RALYL_HUMAN RALY RNA binding protein-like 28 RRM. identical protein binding|nucleotide binding|RNA binding endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1) 24 CATCGGCAATCTAAATACGGC 0.403000 7 16 8.12818e-05 8.71932e-05 1 1 0 SAMD9 54809 broad.mit.edu 37 7 92733183 92733183 + Missense_Mutation SNP C C A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr7:92733183C>A ENST00000379958.2 - 3 2497 c.2228G>T c.(2227-2229)gGa>gTa p.G743V NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 743 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) CAAGGTAGTTCCCCCACAGCC 0.383000 83 109 1.52223e-32 2.12153e-32 1 1 0 PCDHB3 56132 broad.mit.edu 37 5 140480899 140480899 + Silent SNP G G T TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr5:140480899G>T ENST00000231130.2 + 1 666 c.666G>T c.(664-666)cgG>cgT p.R222R AC005754.7_ENST00000607216.1_RNA NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 222 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTCCCCCTCGGTCTGGGACAG 0.547000 41 21 6.2361e-21 8.23724e-21 1 1 0 SI 6476 broad.mit.edu 37 3 164786517 164786517 + Missense_Mutation SNP C C A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr3:164786517C>A ENST00000264382.3 - 5 538 c.476G>T c.(475-477)cGg>cTg p.R159L NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 159 Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) AACCTTGAACCGGAAACGATT 0.423000 HNSCC(35;0.089) 44 63 1.76056e-25 2.41565e-25 1 1 0 IFIT1B 439996 broad.mit.edu 37 10 91144365 91144365 + Missense_Mutation SNP A A G TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr10:91144365A>G ENST00000371809.3 + 2 1375 c.1295A>G c.(1294-1296)cAg>cGg p.Q432R LIPA_ENST00000371837.1_Intron NM_001010987.2 NP_001010987.1 Q5T764 IFT1B_HUMAN interferon-induced protein with tetratricopeptide repeats 1B 432 binding endometrium(2)|large_intestine(3)|lung(8) 13 TGTATTCACCAGAATGTACGG 0.393000 38 88 0 0 1 0 0 MAP4K1 11184 broad.mit.edu 37 19 39100310 39100310 + Missense_Mutation SNP G G T TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr19:39100310G>T ENST00000591517.1 - 13 960 c.932C>A c.(931-933)cCc>cAc p.P311H MAP4K1_ENST00000589130.1_Missense_Mutation_p.P307H|MAP4K1_ENST00000589002.1_5'UTR|MAP4K1_ENST00000586296.1_Missense_Mutation_p.P311H|MAP4K1_ENST00000396857.2_Missense_Mutation_p.P311H|MAP4K1_ENST00000423454.2_5'UTR NM_007181.4 NP_009112.1 Q92918 M4K1_HUMAN mitogen-activated protein kinase kinase kinase kinase 1 311 activation of JUN kinase activity|peptidyl-serine phosphorylation ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 44 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) GATAGCAGGGGGTAGCTGGGC 0.622000 5 13 0.184627 0.184627 1 1 0 GTPBP4 23560 broad.mit.edu 37 10 1034431 1034431 + Nonsense_Mutation SNP C C G TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr10:1034431C>G ENST00000360803.4 + 1 94 c.12C>G c.(10-12)taC>taG p.Y4* GTPBP4_ENST00000491635.1_3'UTR|GTPBP4_ENST00000538293.1_5'UTR NM_012341.2 NP_036473.2 Q9BZE4 NOG1_HUMAN GTP binding protein 4 4 negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis nucleolus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1) 21 all_epithelial(10;0.107)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.0814) Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173) TGGCACATTACAACTTCAAGA 0.652000 6 21 0 0 1 0 0 COL4A2 1284 broad.mit.edu 37 13 111155594 111155594 + Missense_Mutation SNP G G A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr13:111155594G>A ENST00000360467.5 + 42 4310 c.4004G>A c.(4003-4005)gGc>gAc p.G1335D COL4A2-AS1_ENST00000417970.2_RNA NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 1335 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) GGGCCCCAGGGCAGGCCTGGT 0.642000 12 42 0 0 1 0 0 COL10A1 1300 broad.mit.edu 37 6 116443070 116443070 + Missense_Mutation SNP G G T TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr6:116443070G>T ENST00000327673.4 - 2 616 c.209C>A c.(208-210)cCt>cAt p.P70H NT5DC1_ENST00000319550.4_Intron|AL121963.1_ENST00000430695.1_Missense_Mutation_p.139_139insC|COL10A1_ENST00000243222.4_Missense_Mutation_p.P70H Q03692 COAA1_HUMAN collagen, type X, alpha 1 70 Triple-helical region. skeletal system development collagen metal ion binding central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1) 13 all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234) all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711) GTGCCCTCGAGGTCCAGCAGG 0.582000 41 86 8.16277e-20 1.05461e-19 1 1 0 PDE8B 8622 broad.mit.edu 37 5 76649224 76649224 + Missense_Mutation SNP A A G TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr5:76649224A>G ENST00000264917.5 + 10 1205 c.1160A>G c.(1159-1161)aAt>aGt p.N387S PDE8B_ENST00000346042.3_Intron|PDE8B_ENST00000333194.4_Missense_Mutation_p.N387S|PDE8B_ENST00000340978.3_Missense_Mutation_p.N340S|PDE8B_ENST00000342343.4_Missense_Mutation_p.N367S NM_003719.3 NP_003710.1 O95263 PDE8B_HUMAN phosphodiesterase 8B 387 cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity GMDS/PDE8B(2) NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3) 40 all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605) OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38) ACTGACAATAATAAGCAGGTA 0.393000 23 9 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31318686 31318686 + Missense_Mutation SNP G G C TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr18:31318686G>C ENST00000269197.5 + 11 1318 c.1318G>C c.(1318-1320)Gag>Cag p.E440Q NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 440 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 ATTGGAGTCAGAGGATATCTT 0.413000 5 54 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8499745 8499745 + Missense_Mutation SNP C C A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr9:8499745C>A ENST00000381196.4 - 22 2767 c.2224G>T c.(2224-2226)Ggc>Tgc p.G742C PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.G742C|PTPRD_ENST00000360074.4_Missense_Mutation_p.G729C|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.G729C|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.G742C|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 742 Fibronectin type-III 5. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) CTTATCTGGCCATGCTGTTTA 0.512000 TSP Lung(15;0.13) 38 77 4.92203e-23 6.59999e-23 1 1 0 BCAS3 54828 broad.mit.edu 37 17 58885363 58885363 + Splice_Site SNP A A C TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr17:58885363A>C ENST00000589222.1 + 7 471 c.e7-1 BCAS3_ENST00000588462.1_Splice_Site|BCAS3_ENST00000408905.3_Splice_Site|BCAS3_ENST00000390652.5_Splice_Site|BCAS3_ENST00000407086.3_Splice_Site Q9H6U6 BCAS3_HUMAN breast carcinoma amplified sequence 3 nucleus NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) CCTTCCTGTCAGGTGCTCAAA 0.318000 13 156 0 0 1 0 0 PCDHA3 56145 broad.mit.edu 37 5 140182652 140182652 + Missense_Mutation SNP G G T TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr5:140182652G>T ENST00000522353.2 + 1 1870 c.1870G>T c.(1870-1872)Gtg>Ttg p.V624L PCDHA3_ENST00000532566.2_Missense_Mutation_p.V624L|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCGTTTCGCGTGGGGCTGTA 0.662000 28 59 1.32181e-22 1.7591e-22 1 1 0 ELAVL2 1993 broad.mit.edu 37 9 23705016 23705016 + Silent SNP G G A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr9:23705016G>A ENST00000397312.2 - 4 661 c.387C>T c.(385-387)gtC>gtT p.V129V ELAVL2_ENST00000380117.1_Silent_p.V129V|ELAVL2_ENST00000544538.1_Silent_p.V129V|ELAVL2_ENST00000223951.6_Silent_p.V129V|ELAVL2_ENST00000380110.4_Silent_p.V158V NM_004432.3 NP_004423.2 Q12926 ELAV2_HUMAN ELAV like neuron-specific RNA binding protein 2 129 RRM 2. regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) GAAGTCCGCTGACATATAAAT 0.403000 6 65 0 0 1 0 0 ZNF528 84436 broad.mit.edu 37 19 52909845 52909845 + Missense_Mutation SNP A A G TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr19:52909845A>G ENST00000391788.2 + 6 713 c.190A>G c.(190-192)Aaa>Gaa p.K64E ZNF528_ENST00000594530.1_Missense_Mutation_p.K74E|ZNF528_ENST00000598192.1_Missense_Mutation_p.K74E|ZNF528_ENST00000360465.3_Missense_Mutation_p.K74E Q3MIS6 ZN528_HUMAN zinc finger protein 528 74 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 39 GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817) GAGTGAAGAGAAAATAGCAAA 0.448000 10 78 0 0 1 0 0 PENK 5179 broad.mit.edu 37 8 57354128 57354128 + Silent SNP A A G TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr8:57354128A>G ENST00000314922.3 - 2 583 c.507T>C c.(505-507)cgT>cgC p.R169R PENK_ENST00000451791.2_Silent_p.R169R|PENK_ENST00000523274.1_5'UTR NM_006211.3 NP_006202.1 P01210 PENK_HUMAN proenkephalin 169 neuropeptide signaling pathway extracellular region neuropeptide hormone activity|opioid peptide activity central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 21 all_lung(136;0.229) Epithelial(17;0.000873)|all cancers(17;0.0069) GGTGGTGGCTACGCTCTCGGT 0.522000 46 144 0 0 1 0 0 KCNQ5 56479 broad.mit.edu 37 6 73843311 73843311 + Missense_Mutation SNP G G T TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr6:73843311G>T ENST00000342056.2 + 11 1870 c.1472G>T c.(1471-1473)cGc>cTc p.R491L KCNQ5_ENST00000402622.2_Missense_Mutation_p.R482L|KCNQ5_ENST00000370398.1_Missense_Mutation_p.R472L|KCNQ5_ENST00000355635.3_Missense_Mutation_p.R473L|KCNQ5_ENST00000355194.4_Missense_Mutation_p.R472L|KCNQ5_ENST00000414165.2_Intron|KCNQ5_ENST00000403813.2_Missense_Mutation_p.R463L NM_001160132.1|NM_001160133.1 NP_001153604.1|NP_001153605.1 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 472 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) GACCGAACCCGCTTCCGGCCC 0.527000 27 60 2.65835e-16 3.31357e-16 1 1 0 NBEA 26960 broad.mit.edu 37 13 36158125 36158125 + Missense_Mutation SNP A A G TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr13:36158125A>G ENST00000540320.1 + 46 7660 c.7126A>G c.(7126-7128)Aat>Gat p.N2376D NBEA_ENST00000400445.3_Missense_Mutation_p.N2376D|NBEA_ENST00000379939.2_Missense_Mutation_p.N2373D|NBEA_ENST00000537702.1_Missense_Mutation_p.N169D|NBEA_ENST00000310336.4_Missense_Mutation_p.N2376D Q8NFP9 NBEA_HUMAN neurobeachin 2376 BEACH. cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) CTACCATTATAATACCCATTA 0.388000 20 70 0 0 1 0 0 GPRASP1 9737 broad.mit.edu 37 X 101909507 101909507 + Missense_Mutation SNP T T A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chrX:101909507T>A ENST00000537097.1 + 6 1479 c.666T>A c.(664-666)agT>agA p.S222R RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Missense_Mutation_p.S222R|GPRASP1_ENST00000415986.1_Missense_Mutation_p.S222R|GPRASP1_ENST00000444152.1_Missense_Mutation_p.S222R NM_001184727.1 NP_001171656.1 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting protein 1 222 cytoplasm protein binding NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 TAAAAGACAGTAACAGATCCA 0.428000 7 99 0 0 1 0 0 ARL13B 200894 broad.mit.edu 37 3 93722578 93722578 + Missense_Mutation SNP T T C TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr3:93722578T>C ENST00000394222.3 + 3 481 c.206T>C c.(205-207)aTc>aCc p.I69T ARL13B_ENST00000539730.1_Intron|ARL13B_ENST00000535334.1_5'UTR|ARL13B_ENST00000471138.1_Missense_Mutation_p.I69T|ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000486562.1_Intron NM_001174150.1 NP_001167621.1 Q3SXY8 AR13B_HUMAN ADP-ribosylation factor-like 13B 69 GTP binding endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2) 10 GAAGTCACCATCTTTGACTTG 0.368000 39 64 0 0 1 0 0 DNMT3B 1789 broad.mit.edu 37 20 31375061 31375061 + Missense_Mutation SNP C C T rs147421711 TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr20:31375061C>T ENST00000328111.2 + 6 779 c.458C>T c.(457-459)tCg>tTg p.S153L DNMT3B_ENST00000375623.4_Missense_Mutation_p.S111L|DNMT3B_ENST00000456297.2_Missense_Mutation_p.S77L|DNMT3B_ENST00000353855.2_Missense_Mutation_p.S153L|DNMT3B_ENST00000348286.2_Missense_Mutation_p.S153L|DNMT3B_ENST00000201963.3_Missense_Mutation_p.S165L|DNMT3B_ENST00000443239.3_Missense_Mutation_p.S111L|DNMT3B_ENST00000344505.4_Missense_Mutation_p.S153L NM_006892.3 NP_008823.1 Q9UBC3 DNM3B_HUMAN DNA (cytosine-5-)-methyltransferase 3 beta 153 Interaction with DNMT1 and DNMT3A. negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GCAACAGCATCGGCAGGAACG 0.597000 10 111 0 0 1 0 0 CDH3 1001 broad.mit.edu 37 16 68716298 68716298 + Missense_Mutation SNP G G T TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr16:68716298G>T ENST00000264012.4 + 9 1634 c.1090G>T c.(1090-1092)Gcc>Tcc p.A364S CDH3_ENST00000581171.1_Missense_Mutation_p.A309S|CDH3_ENST00000429102.2_Missense_Mutation_p.A364S NM_001793.4 NP_001784.2 P22223 CADH3_HUMAN cadherin 3, type 1, P-cadherin (placental) 364 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception integral to membrane calcium ion binding p.?(2) NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1) 25 Ovarian(137;0.0564) OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384) AGCGTGGCGTGCCACCTACCT 0.597000 10 36 7.48243e-07 8.22602e-07 1 1 0 TRPC7 57113 broad.mit.edu 37 5 135692644 135692644 + Silent SNP C C T TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr5:135692644C>T ENST00000513104.1 - 2 714 c.432G>A c.(430-432)caG>caA p.Q144Q TRPC7_ENST00000426057.2_Silent_p.Q144Q|TRPC7_ENST00000355180.3_Silent_p.Q144Q NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 144 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CGCGCAGCTCCTGTTCCAGCG 0.657000 29 59 0 0 1 0 0 CEACAM5 1048 broad.mit.edu 37 19 42218935 42218935 + Missense_Mutation SNP T T G TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr19:42218935T>G ENST00000221992.6 + 3 584 c.470T>G c.(469-471)gTg>gGg p.V157G CEACAM5_ENST00000398599.4_Missense_Mutation_p.V157G|CEACAM5_ENST00000405816.1_Missense_Mutation_p.V157G|CEA_ENST00000598976.1_Intron NM_004363.2 NP_004354.2 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion molecule 5 157 Ig-like 2. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) TCCAAACCCGTGGAGGACAAG 0.562000 57 75 0 0 1 0 0 MUT 4594 broad.mit.edu 37 6 49399492 49399492 + Missense_Mutation SNP C C A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr6:49399492C>A ENST00000274813.3 - 13 2329 c.2202G>T c.(2200-2202)caG>caT p.Q734H NM_000255.3 NP_000246.2 P22033 MUTA_HUMAN methylmalonyl CoA mutase 734 B12-binding. fatty acid beta-oxidation mitochondrial matrix cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 30 Lung NSC(77;0.0376) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CATCAAGCACCTGAACGGCAG 0.333000 42 106 5.44703e-19 6.9864e-19 1 1 0 ZNF181 339318 broad.mit.edu 37 19 35232520 35232520 + Nonsense_Mutation SNP A A T TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr19:35232520A>T ENST00000392232.3 + 6 1534 c.1366A>T c.(1366-1368)Aaa>Taa p.K456* ZNF181_ENST00000492450.1_Nonsense_Mutation_p.K412*|ZNF181_ENST00000459757.1_Nonsense_Mutation_p.K411* Q2M3W8 ZN181_HUMAN zinc finger protein 181 412 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1) 22 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) CAAATGTCTGAAAGTCTTTAG 0.383000 5 26 0 0 1 0 0 HDAC9 9734 broad.mit.edu 37 7 18705959 18705959 + Missense_Mutation SNP A A T TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr7:18705959A>T ENST00000406451.3 + 12 1732 c.1582A>T c.(1582-1584)Agg>Tgg p.R528W HDAC9_ENST00000417496.2_Missense_Mutation_p.R526W|HDAC9_ENST00000405010.3_Missense_Mutation_p.R528W|HDAC9_ENST00000456174.2_Missense_Mutation_p.R500W|HDAC9_ENST00000428307.2_Missense_Mutation_p.R484W|HDAC9_ENST00000524023.1_Missense_Mutation_p.R451W|HDAC9_ENST00000401921.1_Missense_Mutation_p.R487W|HDAC9_ENST00000432645.2_Missense_Mutation_p.R528W|HDAC9_ENST00000406072.1_Missense_Mutation_p.R515W|HDAC9_ENST00000441542.2_Missense_Mutation_p.R531W NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 528 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) CAACAGCACTAGGAGCGACAG 0.557000 OREG0017877 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 57 0 0 1 0 0 C10orf129 142827 broad.mit.edu 37 10 96971761 96971761 + Missense_Mutation SNP G G C TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr10:96971761G>C ENST00000341686.3 + 6 1007 c.882G>C c.(880-882)atG>atC p.M294I C10orf129_ENST00000430183.1_Missense_Mutation_p.M139I|C10orf129_ENST00000394005.3_Missense_Mutation_p.M294I NM_207321.2 NP_997204.2 Q6P461 ACSM6_HUMAN chromosome 10 open reading frame 129 294 fatty acid metabolic process mitochondrion ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1) 7 Colorectal(252;0.083) Epithelial(162;1.64e-06)|all cancers(201;3.71e-05) TGTGTCACATGCCAACCTTCT 0.488000 12 29 0 0 1 0 0 TTLL9 164395 broad.mit.edu 37 20 30486337 30486337 + Missense_Mutation SNP C C T rs143259320 by1000genomes TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr20:30486337C>T ENST00000375938.4 + 4 428 c.175C>T c.(175-177)Cgc>Tgc p.R59C TTLL9_ENST00000375922.4_Missense_Mutation_p.R9C|TTLL9_ENST00000310998.4_Missense_Mutation_p.R9C|TTLL9_ENST00000375934.4_Missense_Mutation_p.R41C|TTLL9_ENST00000375921.2_Missense_Mutation_p.R9C|TTLL9_ENST00000535842.1_Missense_Mutation_p.R59C Q3SXZ7 TTLL9_HUMAN tubulin tyrosine ligase-like family, member 9 59 TTL. protein modification process cilium|microtubule|microtubule basal body ATP binding|tubulin-tyrosine ligase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 26 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) GGACGTCCTTCGCCACAGGCC 0.522000 16 40 0 0 1 0 0 PCDH20 64881 broad.mit.edu 37 13 61986963 61986963 + Silent SNP G G A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr13:61986963G>A ENST00000409186.1 - 5 3374 c.1269C>T c.(1267-1269)ccC>ccT p.P423P PCDH20_ENST00000409204.4_Silent_p.P423P Q8N6Y1 PCD20_HUMAN protocadherin 20 396 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 58 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) CAATTTCAGGGGGTCTGAAAA 0.443000 33 51 0 0 1 0 0 BCAN 63827 broad.mit.edu 37 1 156618629 156618629 + Missense_Mutation SNP C C T TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr1:156618629C>T ENST00000329117.4 + 6 1375 c.1039C>T c.(1039-1041)Cgc>Tgc p.R347C BCAN_ENST00000361588.5_Missense_Mutation_p.R347C|RP11-284F21.7_ENST00000448869.1_RNA NM_021948.4 NP_068767.3 Q96GW7 PGCB_HUMAN brevican 347 Link 2. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TAAGCACAGCCGCTTCAACGT 0.577000 71 90 0 0 1 0 0 RAPGEF4 11069 broad.mit.edu 37 2 173853501 173853501 + Silent SNP C C T TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr2:173853501C>T ENST00000264111.6 + 14 1492 c.1305C>T c.(1303-1305)atC>atT p.I435I RAPGEF4_ENST00000535187.1_Silent_p.I216I|RAPGEF4_ENST00000539331.1_Silent_p.I283I|RAPGEF4_ENST00000538974.1_Silent_p.I265I|RAPGEF4_ENST00000540783.1_Silent_p.I283I|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000409036.1_Silent_p.I436I|RAPGEF4_ENST00000397081.3_Silent_p.I436I|RAPGEF4_ENST00000397087.3_Silent_p.I292I Q8WZA2 RPGF4_HUMAN Rap guanine nucleotide exchange factor (GEF) 4 436 blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex|membrane fraction|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 OV - Ovarian serous cystadenocarcinoma(117;0.194) CTGCCTCTATCGTCTTACGAG 0.498000 14 61 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24921522 24921522 + Missense_Mutation SNP G G A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr15:24921522G>A ENST00000329468.2 + 1 982 c.508G>A c.(508-510)Gaa>Aaa p.E170K NM_018958.2 NP_061831.2 nuclear pore associated protein 1 GGTGCAGATCGAAGGGGAGGA 0.617000 16 22 0 0 1 0 0 PRDM7 11105 broad.mit.edu 37 16 90124748 90124748 + Silent SNP A A T TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr16:90124748A>T ENST00000449207.2 - 10 1447 c.1428T>A c.(1426-1428)gcT>gcA p.A476A PRDM7_ENST00000325921.6_3'UTR|PRDM7_ENST00000407825.1_3'UTR NM_001098173.1 NP_001091643.1 Q9NQW5 PRDM7_HUMAN PR domain containing 7 476 chromosome|nucleus nucleic acid binding lung(2)|ovary(2)|stomach(1) 5 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0278) TTGTCATTACAGCAGCGTGGA 0.473000 16 39 0 0 1 0 0 MFN1 55669 broad.mit.edu 37 3 179096212 179096212 + Missense_Mutation SNP G G T TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr3:179096212G>T ENST00000471841.1 + 13 1539 c.1413G>T c.(1411-1413)caG>caT p.Q471H MFN1_ENST00000280653.7_Intron|MFN1_ENST00000263969.5_Missense_Mutation_p.Q471H NM_033540.2 NP_284941.2 Q8IWA4 MFN1_HUMAN mitofusin 1 471 mitochondrial fusion integral to membrane|mitochondrial outer membrane GTP binding|GTPase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1) 31 all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923) TAGTGCTTCAGACCCAGCAAG 0.368000 25 41 1.42536e-11 1.67078e-11 1 1 0 SRCAP 10847 broad.mit.edu 37 16 30732549 30732549 + Missense_Mutation SNP G G C TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr16:30732549G>C ENST00000262518.4 + 21 3678 c.3293G>C c.(3292-3294)cGg>cCg p.R1098P SRCAP_ENST00000344771.4_Intron|SRCAP_ENST00000395059.2_Missense_Mutation_p.R1098P NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 1098 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) GGGACCTCACGGCCTCCCACG 0.607000 46 78 0 0 1 0 0 CDK13 8621 broad.mit.edu 37 7 40027315 40027315 + Silent SNP A A C TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr7:40027315A>C ENST00000181839.4 + 2 1934 c.1329A>C c.(1327-1329)ctA>ctC p.L443L CDK13_ENST00000340829.5_Silent_p.L443L NM_003718.4|NM_031267.3 NP_003709.3|NP_112557.2 Q14004 CDK13_HUMAN cyclin-dependent kinase 13 443 alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1) 49 CTAGCACACTAACTCTGAAGA 0.473000 23 39 0 0 1 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85517978 85517978 + Missense_Mutation SNP G G T TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr12:85517978G>T ENST00000393217.2 + 17 3749 c.3688G>T c.(3688-3690)Gcc>Tcc p.A1230S NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 1230 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) TGAATCAGAAGCCCAGAAAAA 0.418000 35 63 1.36615e-20 1.778e-20 1 1 0 PRODH2 58510 broad.mit.edu 37 19 36293143 36293143 + Missense_Mutation SNP A A G TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr19:36293143A>G ENST00000301175.3 - 10 1393 c.1376T>C c.(1375-1377)gTc>gCc p.V459A NM_021232.1 NP_067055.1 Q9UF12 PROD2_HUMAN proline dehydrogenase (oxidase) 2 459 glutamate biosynthetic process|proline catabolic process proline dehydrogenase activity haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TCCGAAACAGACAGTCCCATC 0.547000 17 74 0 0 1 0 0 DRD3 1814 broad.mit.edu 37 3 113890705 113890705 + Silent SNP G G A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr3:113890705G>A ENST00000383673.2 - 2 565 c.135C>T c.(133-135)ttC>ttT p.F45F DRD3_ENST00000467632.1_Silent_p.F45F|DRD3_ENST00000295881.7_Silent_p.F45F|DRD3_ENST00000460779.1_Silent_p.F45F NM_000796.3 NP_000787.2 P35462 DRD3_HUMAN dopamine receptor D3 45 activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1) 36 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) GGCCATTGCCGAAGACGATGG 0.612000 5 67 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73651944 73651944 + Missense_Mutation SNP G G T TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr2:73651944G>T ENST00000264448.6 + 5 1262 c.1151G>T c.(1150-1152)aGa>aTa p.R384I ALMS1_ENST00000409009.1_Missense_Mutation_p.R342I|ALMS1_ENST00000377715.1_Missense_Mutation_p.R384I NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 384 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 GCTACTAAAAGAAGTGACCAT 0.373000 15 36 3.27435e-08 3.69147e-08 1 1 0 HSPH1 10808 broad.mit.edu 37 13 31713011 31713011 + Silent SNP C C A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr13:31713011C>A ENST00000320027.5 - 16 2459 c.2115G>T c.(2113-2115)cgG>cgT p.R705R HSPH1_ENST00000445273.2_Silent_p.R707R|HSPH1_ENST00000429785.2_Silent_p.R524R|HSPH1_ENST00000380405.4_Silent_p.R661R|HSPH1_ENST00000380406.5_Silent_p.R664R NM_006644.2 NP_006635.2 Q92598 HS105_HUMAN heat shock 105kDa/110kDa protein 1 705 positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein cytoplasm|extracellular region ATP binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 Lung SC(185;0.0257) all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125) CTTCCTGAAACCGAACTTTAA 0.333000 15 49 0.0242445 0.0249493 1 1 0 INTU 27152 broad.mit.edu 37 4 128608866 128608866 + Missense_Mutation SNP G G T TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr4:128608866G>T ENST00000335251.5 + 8 1396 c.1293G>T c.(1291-1293)ttG>ttT p.L431F NM_015693.3 NP_056508.2 Q9ULD6 PDZD6_HUMAN inturned planar cell polarity protein 431 breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 43 TTCCTCGTTTGGATCATTTTT 0.443000 29 30 1.30897e-18 1.65491e-18 1 1 0 VRK1 7443 broad.mit.edu 37 14 97321560 97321560 + Splice_Site SNP G G C TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr14:97321560G>C ENST00000216639.3 + 8 725 c.e8-1 NM_003384.2 NP_003375.1 Q99986 VRK1_HUMAN vaccinia related kinase 1 cytoplasm|nucleolus ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1) 12 Melanoma(154;0.155) COAD - Colon adenocarcinoma(157;0.234) GAAATTTATAGGTGTACTTGG 0.398000 18 37 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106815147 106815147 + Missense_Mutation SNP G G T TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr8:106815147G>T ENST00000407775.2 + 8 3087 c.2837G>T c.(2836-2838)aGt>aTt p.S946I RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.S814I|ZFPM2_ENST00000517361.1_Missense_Mutation_p.S814I|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.S677I NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 946 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) AAGGTCTTTAGTGAAGCTGCT 0.413000 11 28 4.84862e-15 5.91865e-15 1 1 0 BAI3 577 broad.mit.edu 37 6 70040441 70040441 + Missense_Mutation SNP G G A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr6:70040441G>A ENST00000370598.1 + 23 3900 c.3079G>A c.(3079-3081)Gga>Aga p.G1027R BAI3_ENST00000238918.8_Missense_Mutation_p.G233R NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1027 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.G1027R(2) NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) TGCTTTTGTGGGACCTGCAGC 0.363000 7 21 0 0 1 0 0 EMR2 30817 broad.mit.edu 37 19 14854319 14854319 + Missense_Mutation SNP C C A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr19:14854319C>A ENST00000315576.3 - 20 2827 c.2376G>T c.(2374-2376)tgG>tgT p.W792C EMR2_ENST00000596991.2_Missense_Mutation_p.W781C|EMR2_ENST00000353876.1_Missense_Mutation_p.W699C|EMR2_ENST00000392967.2_Missense_Mutation_p.W781C|EMR2_ENST00000346057.1_Missense_Mutation_p.W743C|EMR2_ENST00000595839.1_Missense_Mutation_p.W650C|EMR2_ENST00000594076.1_Missense_Mutation_p.W699C|EMR2_ENST00000353005.1_Missense_Mutation_p.W650C|EMR2_ENST00000594294.1_Missense_Mutation_p.W743C|EMR2_ENST00000601345.1_Missense_Mutation_p.W781C|EMR2_ENST00000392965.3_Missense_Mutation_p.W734C NM_013447.2 NP_038475.2 Q9UHX3 EMR2_HUMAN egf-like module containing, mucin-like, hormone receptor-like 2 792 cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 48 TCCCTTTGGACCATTTCCCAT 0.542000 35 182 2.68265e-12 3.2083e-12 1 1 0 PCDHB14 56122 broad.mit.edu 37 5 140605035 140605035 + Missense_Mutation SNP C C T TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr5:140605035C>T ENST00000239449.4 + 1 1958 c.1958C>T c.(1957-1959)tCg>tTg p.S653L PCDHB14_ENST00000515856.2_Missense_Mutation_p.S500L NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 653 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCTCCTCGCTCGGCCACCGCC 0.721000 25 85 0 0 1 0 0 GRB10 2887 broad.mit.edu 37 7 50771589 50771589 + Missense_Mutation SNP G G A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr7:50771589G>A ENST00000403097.1 - 4 830 c.50C>T c.(49-51)aCa>aTa p.T17I GRB10_ENST00000402578.1_Intron|GRB10_ENST00000357271.5_Missense_Mutation_p.T23I|GRB10_ENST00000439599.1_Missense_Mutation_p.T17I|GRB10_ENST00000402497.1_5'UTR|GRB10_ENST00000406641.1_5'UTR|GRB10_ENST00000335866.3_5'UTR|GRB10_ENST00000401949.1_Missense_Mutation_p.T23I|GRB10_ENST00000398810.2_5'UTR|GRB10_ENST00000407526.1_5'UTR|GRB10_ENST00000398812.2_Missense_Mutation_p.T23I Q13322 GRB10_HUMAN growth factor receptor-bound protein 10 23 insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway cytosol|plasma membrane insulin receptor binding|SH3/SH2 adaptor activity NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 41 Glioma(55;0.08)|all_neural(89;0.245) ACTGCGAGGTGTCTGCTCCAC 0.522000 Russell-Silver syndrome 7 39 0 0 1 0 0 POLRMT 5442 broad.mit.edu 37 19 622754 622754 + Splice_Site SNP T T G TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr19:622754T>G ENST00000588649.2 - 8 1540 c.e8-2 NM_005035.3 NP_005026.3 O00411 RPOM_HUMAN polymerase (RNA) mitochondrial (DNA directed) transcription initiation from mitochondrial promoter mitochondrial nucleoid DNA binding|DNA-directed RNA polymerase activity|protein binding cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1) 20 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-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) CTGCAGGACCTGCGGAAGGCA 0.736000 3 3 0 0 1 0 0 SF3B1 23451 broad.mit.edu 37 2 198266713 198266713 + Missense_Mutation SNP C C T TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr2:198266713C>T ENST00000335508.5 - 15 2310 c.2219G>A c.(2218-2220)gGa>gAa p.G740E NM_012433.2 NP_036565.2 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1, 155kDa 740 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding p.G740E(1) 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) ATTTACCTTTCCTCTGTGTTG 0.343000 Mis myelodysplastic syndrome 8 32 0 0 1 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85449626 85449626 + Missense_Mutation SNP A A G TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr12:85449626A>G ENST00000393217.2 + 8 1116 c.1055A>G c.(1054-1056)cAa>cGa p.Q352R NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 352 Glu-rich. breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) agaaaaaagcaaaaggaagag 0.323000 7 5 0 0 1 0 0 IRF2BP2 359948 broad.mit.edu 37 1 234744400 234744400 + Nonsense_Mutation SNP C C A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr1:234744400C>A ENST00000366609.3 - 1 871 c.841G>T c.(841-843)Gag>Tag p.E281* RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000366610.3_Nonsense_Mutation_p.E281* NM_182972.2 NP_892017.2 Q7Z5L9 I2BP2_HUMAN interferon regulatory factor 2 binding protein 2 281 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 11 Ovarian(103;0.0303) all_cancers(173;0.0236)|Prostate(94;0.0115) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05) GCGCTCAGCTCGGCGGCCCCG 0.736000 5 4 0.0215528 0.022309 1 1 0 MED28 80306 broad.mit.edu 37 4 17616277 17616277 + Translation_Start_Site SNP C C A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr4:17616277C>A ENST00000237380.6 + 0 24 NM_025205.3 NP_079481.2 Q9H204 MED28_HUMAN mediator complex subunit 28 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|membrane|nucleus actin binding lung(6)|skin(2) 8 CCATTCCAAACATGGCGGCTC 0.652000 16 26 6.72482e-11 7.7797e-11 1 1 0 ANKRD20A1 84210 broad.mit.edu 37 9 67968442 67968442 + Silent SNP A A T TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr9:67968442A>T ENST00000377477.2 + 15 2113 c.2001A>T c.(1999-2001)acA>acT p.T667T NM_032250.3 NP_115626.2 ankyrin repeat domain 20 family, member A1 kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1) 11 TTTCTGAAACACAAATTAAAT 0.343000 16 99 0 0 1 0 0 PER3 8863 broad.mit.edu 37 1 7880257 7880257 + Missense_Mutation SNP G G C TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr1:7880257G>C ENST00000377532.3 + 14 1965 c.1741G>C c.(1741-1743)Gac>Cac p.D581H PER3_ENST00000361923.2_Missense_Mutation_p.D573H|RP3-467L1.4_ENST00000451646.1_RNA P56645 PER3_HUMAN period circadian clock 3 573 CSNK1E binding domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 39 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) CTCAGAAGAAGACAAACAGAA 0.378000 8 43 0 0 1 0 0 TBC1D15 64786 broad.mit.edu 37 12 72288604 72288604 + Missense_Mutation SNP G G T TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr12:72288604G>T ENST00000550746.1 + 8 911 c.847G>T c.(847-849)Gct>Tct p.A283S TBC1D15_ENST00000393309.3_Missense_Mutation_p.A37S|TBC1D15_ENST00000319106.8_Missense_Mutation_p.A274S|TBC1D15_ENST00000485960.2_Missense_Mutation_p.A266S NM_001146213.1|NM_022771.4 NP_001139685.2|NP_073608.4 Q8TC07 TBC15_HUMAN TBC1 domain family, member 15 283 protein binding|Rab GTPase activator activity NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TCTTAGTGATGCTATTCCAGG 0.353000 10 79 0.0809354 0.0823308 1 1 0 ALDH1A1 216 broad.mit.edu 37 9 75543859 75543859 + Missense_Mutation SNP G G A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr9:75543859G>A ENST00000297785.3 - 4 445 c.391C>T c.(391-393)Cgc>Tgc p.R131C ALDH1A1_ENST00000376939.1_Missense_Mutation_p.R131C|ALDH1A1_ENST00000482210.1_5'UTR NM_000689.4 NP_000680.2 P00352 AL1A1_HUMAN aldehyde dehydrogenase 1 family, member A1 131 cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process cytosol aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1) 17 NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) GCACAGTAGCGCAATGTTTTG 0.428000 10 123 0 0 1 0 0 TGFB2 7042 broad.mit.edu 37 1 218614687 218614687 + Missense_Mutation SNP T T A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr1:218614687T>A ENST00000366929.4 + 8 1779 c.1312T>A c.(1312-1314)Tct>Act p.S438T TGFB2_ENST00000479322.1_3'UTR|TGFB2_ENST00000366930.4_Missense_Mutation_p.S410T NM_001135599.2 NP_001129071.1 P61812 TGFB2_HUMAN transforming growth factor, beta 2 410 activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776) GATTGTAAAGTCTTGCAAATG 0.383000 10 32 0 0 1 0 0 CDKN2B 1030 broad.mit.edu 37 9 22008887 22008887 + Silent SNP C C T TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr9:22008887C>T ENST00000276925.6 - 1 475 c.66G>A c.(64-66)gcG>gcA p.A22A CDKN2B-AS1_ENST00000584020.1_RNA|CDKN2B-AS1_ENST00000580467.1_RNA|CDKN2B-AS1_ENST00000580576.1_RNA|CDKN2B-AS1_ENST00000585267.1_RNA|CDKN2B-AS1_ENST00000577551.1_RNA|CDKN2B-AS1_ENST00000582301.1_RNA|CDKN2B-AS1_ENST00000584816.1_RNA|CDKN2B_ENST00000539462.1_Silent_p.A22A|CDKN2B-AS1_ENST00000584637.1_RNA|CDKN2B-AS1_ENST00000468603.2_RNA|CDKN2B-AS1_ENST00000428597.1_RNA|CDKN2B-AS1_ENST00000584351.1_RNA|CDKN2B-AS1_ENST00000581051.1_RNA|CDKN2B-AS1_ENST00000583719.1_RNA|CDKN2B-AS1_ENST00000455933.2_RNA|CDKN2B-AS1_ENST00000582072.1_RNA|CDKN2B_ENST00000380142.4_Silent_p.A22A|RP11-145E5.5_ENST00000404796.2_Intron NM_004936.3|NM_078487.2 NP_004927.2|NP_511042.1 P42772 CDN2B_HUMAN cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) 22 SAA -> TP (in Ref. 2; AAA50282). cell cycle arrest|cellular response to nutrient|G1 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|megakaryocyte differentiation|mitotic cell cycle G1/S transition checkpoint|negative regulation of epithelial cell proliferation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of cyclin-dependent protein kinase activity cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|protein kinase binding p.0(1)|p.0?(1) lung(2) 2 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143) GTCCCCGCGCCGCGGCGCTGG 0.697000 OREG0019127 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 22 0 0 1 0 0 ALPPL2 251 broad.mit.edu 37 2 233272676 233272676 + Silent SNP G G A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr2:233272676G>A ENST00000295453.3 + 5 649 c.597G>A c.(595-597)caG>caA p.Q199Q NM_031313.2 NP_112603.2 P10696 PPBN_HUMAN alkaline phosphatase, placental-like 2 199 phosphorylation anchored to membrane|plasma membrane alkaline phosphatase activity|metal ion binding breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1) 13 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) Amifostine(DB01143)|Levamisole(DB00848) CGGCCCGCCAGGAGGGGTGCC 0.682000 26 74 0 0 1 0 0 CEP170B 283638 broad.mit.edu 37 14 105353711 105353711 + Missense_Mutation SNP T T A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr14:105353711T>A ENST00000453495.1 + 12 3366 c.3138T>A c.(3136-3138)agT>agA p.S1046R CEP170B_ENST00000414716.3_Missense_Mutation_p.S1045R|CEP170B_ENST00000418279.1_Missense_Mutation_p.S975R|CEP170B_ENST00000556508.1_Missense_Mutation_p.S975R centrosomal protein 170B ATTGGCCCAGTGAGGAGCGTG 0.672000 3 5 0 0 1 0 0 IGHV4-59 28392 broad.mit.edu 37 14 107083709 107083709 + RNA SNP C C A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr14:107083709C>A ENST00000455737.1 - 0 16 AGGTCCAGGACTCTCAGAAAG 0.493000 7 20 5.68852e-11 6.62414e-11 1 1 0 ASTN1 460 broad.mit.edu 37 1 176863926 176863926 + Silent SNP G G A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr1:176863926G>A ENST00000367654.2 - 17 2749 c.2736C>T c.(2734-2736)gaC>gaT p.D912D ASTN1_ENST00000361833.2_Silent_p.D904D|ASTN1_ENST00000367657.3_Silent_p.D904D|ASTN1_ENST00000424564.2_Silent_p.D904D O14525 ASTN1_HUMAN astrotactin 1 912 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 GCACCTTGGGGTCTCTTTCCC 0.522000 46 84 0 0 1 0 0 IRX4 50805 broad.mit.edu 37 5 1878794 1878794 + Missense_Mutation SNP G G T TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr5:1878794G>T ENST00000505790.1 - 6 1305 c.849C>A c.(847-849)gaC>gaA p.D283E IRX4_ENST00000231357.2_Missense_Mutation_p.D283E|IRX4_ENST00000513692.1_Missense_Mutation_p.D283E NM_001278634.1 NP_001265563.1 P78413 IRX4_HUMAN iroquois homeobox 4 283 heart development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|lung(7)|ovary(1)|prostate(1) 10 GBM - Glioblastoma multiforme(108;0.242) CCAGACCGCCGTCCAGGGAGT 0.706000 7 6 0.000673444 0.000705323 1 1 0 IGKV1D-33 28896 broad.mit.edu 37 2 89952842 89952842 + RNA DEL C C - TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr2:89952842delC ENST00000390265.2 + 0 51 ATAGGCTGGTCGCACCCTGTG 0.607 12 17 --- --- --- --- PTPN18 26469 broad.mit.edu 37 2 131129929 131129934 + In_Frame_Del DEL GACGGG GACGGG - rs112040677 TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr2:131129929_131129934delGACGGG ENST00000175756.5 + 13 1214_1219 c.1113_1118delGACGGG c.(1111-1119)cag>ca p.QTG371del PTPN18_ENST00000347849.3_In_Frame_Del_p.QTG264del NM_014369.3 NP_055184.2 Q99952 PTN18_HUMAN protein tyrosine phosphatase, non-receptor type 18 (brain-derived) 371 cytoplasm|nucleus non-membrane spanning protein tyrosine phosphatase activity p.T378_G379delTG(1) endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1) 15 Colorectal(110;0.1) gtgggacgcagacggggacggggacg 0.777 4 5 --- --- --- --- RP11-13J8.1 0 broad.mit.edu 37 2 201967218 201967218 + RNA DEL G G - TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr2:201967218delG ENST00000448256.1 + 0 628 aaaaaaaaaagaaTTTGTTCT 0.463 3 5 --- --- --- --- SMC4 10051 broad.mit.edu 37 3 160129830 160129830 + Frame_Shift_Del DEL G G - TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr3:160129830delG ENST00000357388.3 + 6 1261 c.810delG c.(808-810)ttfs p.L270fs SMC4_ENST00000344722.5_Frame_Shift_Del_p.L270fs|SMC4_ENST00000360111.2_Frame_Shift_Del_p.L270fs|SMC4_ENST00000469762.1_Frame_Shift_Del_p.L245fs|SMC4_ENST00000462787.1_Frame_Shift_Del_p.L270fs|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000470240.1_3'UTR NM_001002800.1 NP_001002800.1 Q9NTJ3 SMC4_HUMAN structural maintenance of chromosomes 4 270 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) TTAAAGTCTTGTGTCGGAGAG 0.348 16 70 --- --- --- --- YTHDC2 64848 broad.mit.edu 37 5 112927692 112927692 + Splice_Site DEL G G - TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr5:112927692delG ENST00000161863.4 + 28 4242 c.e28-1 NM_022828.3 NP_073739.3 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 ATP binding|ATP-dependent helicase activity|nucleic acid binding NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) TTTACCTACAGGGATTTTCTA 0.398 10 10 --- --- --- --- BACH2 60468 broad.mit.edu 37 6 90660061 90660064 + Frame_Shift_Del DEL GTTG GTTG - TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr6:90660061_90660064delGTTG ENST00000257749.4 - 7 2468_2471 c.1761_1764delCAAC c.(1759-1764)acfs p.TN587fs BACH2_ENST00000537989.1_Frame_Shift_Del_p.TN587fs|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000343122.3_Frame_Shift_Del_p.TN587fs NM_021813.2 NP_068585.1 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 2 587 nucleus protein dimerization activity|sequence-specific DNA binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 45 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) CGTCACTGGAGTTGGTTCCATAAG 0.520 27 74 --- --- --- --- NCOA7 135112 broad.mit.edu 37 6 126176316 126176317 + Frame_Shift_Ins INS - - A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr6:126176316_126176317insA ENST00000368357.3 + 4 553_554 c.201_202insA c.(199-204)gaaaaafs p.EK67fs NCOA7_ENST00000392477.2_Frame_Shift_Ins_p.EK67fs|NCOA7_ENST00000229634.9_Intron|NCOA7_ENST00000487635.1_3'UTR NM_001199619.1|NM_001199620.1 NP_001186548.1|NP_001186549.1 Q8NI08 NCOA7_HUMAN nuclear receptor coactivator 7 67 cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2) 39 UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237) TGACTGATGAGAAAAAAAAGAG 0.356 13 149 --- --- --- --- STAG3L2 442582 broad.mit.edu 37 7 74300557 74300564 + RNA DEL AGAGCTCC AGAGCTCC - TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr7:74300557_74300564delAGAGCTCC ENST00000423186.1 - 0 573_580 P0CL84 ST3L2_HUMAN nucleus binding p.E82fs*32(2) breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1) 5 CGGCCAGTGAAGAGCTCCAGGCGTGCGG 0.572 3 6 --- --- --- --- TP53BP1 7158 broad.mit.edu 37 15 43730566 43730582 + Frame_Shift_Del DEL TTGCCTGGCTTCACAGA TTGCCTGGCTTCACAGA - TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr15:43730566_43730582delTTGCCTGGCTTCACAGA ENST00000263801.3 - 16 3368_3384 c.3116_3132delTCTGTGAAGCCAGGCAA c.(3115-3132)afs p.ICEARQ1039fs TP53BP1_ENST00000450115.2_Frame_Shift_Del_p.ICEARQ1044fs|TP53BP1_ENST00000382039.3_Frame_Shift_Del_p.ICEARQ1044fs|TP53BP1_ENST00000382044.4_Frame_Shift_Del_p.ICEARQ1044fs NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 1039 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) CCTCATTCTCTTGCCTGGCTTCACAGATACAGCTCAA 0.392 Other conserved DNA damage response genes 13 26 --- --- --- --- MYH4 4622 broad.mit.edu 37 17 10359195 10359195 + Frame_Shift_Del DEL G G - TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr17:10359195delG ENST00000255381.2 - 18 2102 c.1992delC c.(1990-1992)acfs p.T664fs CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 664 Actin-binding (By similarity).|Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TCCTCAAGTTGGTCATCAGCT 0.408 49 57 --- --- --- --- KRT26 353288 broad.mit.edu 37 17 38926036 38926037 + Frame_Shift_Ins INS - - A TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr17:38926036_38926037insA ENST00000335552.4 - 5 986_987 c.938_939insT c.(937-939)cgafs p.R313fs NM_181539.4 NP_853517.2 Q7Z3Y9 K1C26_HUMAN keratin 26 313 Coil 2.|Rod. intermediate filament structural molecule activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5) 16 Breast(137;0.00526) GTTCTATTTCCAGGGTTTGCAG 0.421 85 43 --- --- --- --- CD209 30835 broad.mit.edu 37 19 7810420 7810420 + Frame_Shift_Del DEL C C - TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr19:7810420delC ENST00000315599.7 - 4 754 c.732delG c.(730-732)cafs p.Q244fs CD209_ENST00000204801.8_Frame_Shift_Del_p.Q200fs|CD209_ENST00000394161.5_Intron|CD209_ENST00000602261.1_Intron|CD209_ENST00000601951.1_Frame_Shift_Del_p.Q220fs|CD209_ENST00000394173.4_Intron|CD209_ENST00000593660.1_Intron|CD209_ENST00000593821.1_Intron|CD209_ENST00000354397.6_Frame_Shift_Del_p.Q244fs|CD209_ENST00000301357.8_Frame_Shift_Del_p.Q108fs|CD209_ENST00000315591.8_Frame_Shift_Del_p.Q220fs|CD209_ENST00000601256.1_Frame_Shift_Del_p.Q220fs NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 244 7 X approximate tandem repeats. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 CAGCCTTCAGCTGGGTCAGCT 0.567 7 100 --- --- --- --- MARCH2 51257 broad.mit.edu 37 19 8491509 8491511 + In_Frame_Del DEL CGG CGG - TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr19:8491509_8491511delCGG ENST00000602117.1 + 3 648_650 c.193_195delCGG c.(193-195)del p.R65del MARCH2_ENST00000601283.1_Intron|MARCH2_ENST00000215555.2_In_Frame_Del_p.R65del|RP11-886P16.6_ENST00000595706.1_RNA|MARCH2_ENST00000393944.1_In_Frame_Del_p.R65del|MARCH2_ENST00000381035.4_In_Frame_Del_p.R65del Q9P0N8 MARH2_HUMAN membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase 65 endocytosis cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1) 10 TCCTTTCTGCCGGATCTGCCATG 0.567 9 47 --- --- --- --- DNMT1 1786 broad.mit.edu 37 19 10249172 10249188 + Frame_Shift_Del DEL CGGGGAGCAAACACGTG CGGGGAGCAAACACGTG - TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chr19:10249172_10249188delCGGGGAGCAAACACGTG ENST00000340748.4 - 34 4229_4245 c.3994_4010delCACGTGTTTGCTCCCCG c.(3994-4011)gfs p.HVFAPR1332fs DNMT1_ENST00000540357.1_Frame_Shift_Del_p.HVFAPR1332fs|DNMT1_ENST00000359526.4_Frame_Shift_Del_p.HVFAPR1348fs P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 1332 Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity). chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) CTGGCAGGCCCGGGGAGCAAACACGTGCAGTGGCTCC 0.659 7 51 --- --- --- --- IKBKG 8517 broad.mit.edu 37 X 153770605 153770608 + Frame_Shift_Del DEL GGGG GGGG - TCGA-86-8669-01A-11D-2393-08 TCGA-86-8669-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx a542d171-c312-41d8-a8a6-37db886a3e28 519d3ac4-361d-4afa-8ea1-7c5d1aca7edc g.chrX:153770605_153770608delGGGG ENST00000369609.5 + 1 147_150 c.127_130delGGGG c.(127-132)aafs p.GE43fs IKBKG_ENST00000369607.1_Intron|G6PD_ENST00000369620.2_Intron|G6PD_ENST00000393564.2_Intron|G6PD_ENST00000497281.1_Intron|G6PD_ENST00000393562.2_Intron NM_001099856.2 NP_001093326.2 Q9Y6K9 NEMO_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma 0 activation of MAPK activity|induction of apoptosis|innate immune response|interspecies interaction between organisms|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|stress-activated MAPK cascade|T cell receptor signaling pathway|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|transcription, DNA-dependent cytosol|nucleus metal ion binding|protein domain specific binding|signal transducer activity p.G43G(1) endometrium(1)|lung(1) 2 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CCCATCAGGTGGGGAAAGATGCTG 0.569 4 9 --- --- --- ---