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 C14orf39 317761 broad.mit.edu 37 14 60908817 60908817 + Silent SNP A A G TCGA-TM-A84B-01A-11D-A36O-08 TCGA-TM-A84B-12A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c782dd9-677c-4812-b310-acbef4325053 15750dd9-70fb-49e2-b349-b02ba6447d41 g.chr14:60908817A>G ENST00000321731.3 - 17 1695 c.1536T>C c.(1534-1536)aaT>aaC p.N512N NM_174978.2 NP_777638.2 Q08AQ4 Q08AQ4_HUMAN chromosome 14 open reading frame 39 512 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(108;0.0448) ATGACAGAGGATTTAGATTTC 0.274000 34 43 0 0 1 0 0 CD19 930 broad.mit.edu 37 16 28943382 28943382 + Missense_Mutation SNP G G A TCGA-TM-A84B-01A-11D-A36O-08 TCGA-TM-A84B-12A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c782dd9-677c-4812-b310-acbef4325053 15750dd9-70fb-49e2-b349-b02ba6447d41 g.chr16:28943382G>A ENST00000538922.1 + 1 123 c.61G>A c.(61-63)Gag>Aag p.E21K CD19_ENST00000567541.1_Missense_Mutation_p.E21K|CD19_ENST00000324662.3_Missense_Mutation_p.E21K NM_001178098.1|NM_001770.5 NP_001171569.1|NP_001761.3 P15391 CD19_HUMAN CD19 molecule 21 Ig-like C2-type 1. cellular defense response external side of plasma membrane|integral to plasma membrane protein binding|receptor signaling protein activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1) 29 AGTCAGGCCCGAGGAACCTCT 0.597000 36 33 0 0 1 0 0 GPR124 25960 broad.mit.edu 37 8 37693223 37693223 + Missense_Mutation SNP G G A rs142661492 by1000genomes TCGA-TM-A84B-01A-11D-A36O-08 TCGA-TM-A84B-12A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c782dd9-677c-4812-b310-acbef4325053 15750dd9-70fb-49e2-b349-b02ba6447d41 g.chr8:37693223G>A ENST00000412232.2 + 13 1998 c.1985G>A c.(1984-1986)cGc>cAc p.R662H GPR124_ENST00000315215.7_Intron NM_032777.9 NP_116166.9 Q96PE1 GP124_HUMAN G protein-coupled receptor 124 662 central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) AACACCTCCCGCCCTGGAGCT 0.682000 25 44 0 0 1 0 0 HECW1 23072 broad.mit.edu 37 7 43477672 43477672 + Missense_Mutation SNP G G A TCGA-TM-A84B-01A-11D-A36O-08 TCGA-TM-A84B-12A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c782dd9-677c-4812-b310-acbef4325053 15750dd9-70fb-49e2-b349-b02ba6447d41 g.chr7:43477672G>A ENST00000395891.1 + 9 1477 c.872G>A c.(871-873)cGc>cAc p.R291H HECW1_ENST00000471043.1_3'UTR|HECW1_ENST00000453890.1_Missense_Mutation_p.R291H NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 291 C2. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 GCCAAGAGCCGCCCCATCATC 0.473000 33 72 0 0 1 0 0 LSM14A 26065 broad.mit.edu 37 19 34685400 34685400 + Missense_Mutation SNP G G A TCGA-TM-A84B-01A-11D-A36O-08 TCGA-TM-A84B-12A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c782dd9-677c-4812-b310-acbef4325053 15750dd9-70fb-49e2-b349-b02ba6447d41 g.chr19:34685400G>A ENST00000544216.3 + 2 216 c.139G>A c.(139-141)Gaa>Aaa p.E47K LSM14A_ENST00000433627.5_Missense_Mutation_p.E47K|LSM14A_ENST00000540746.2_Missense_Mutation_p.E47K NM_015578.2 NP_056393.2 Q8ND56 LS14A_HUMAN LSM14A, SCD6 homolog A (S. cerevisiae) 47 cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1) 22 Esophageal squamous(110;0.162) CTTTGGTACAGAAGACAGACC 0.408000 88 119 0 0 1 0 0 FAM126B 285172 broad.mit.edu 37 2 201846441 201846441 + Missense_Mutation SNP C C T rs138872845 TCGA-TM-A84B-01A-11D-A36O-08 TCGA-TM-A84B-12A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c782dd9-677c-4812-b310-acbef4325053 15750dd9-70fb-49e2-b349-b02ba6447d41 g.chr2:201846441C>T ENST00000418596.2 - 12 1332 c.1145G>A c.(1144-1146)cGt>cAt p.R382H AC005037.3_ENST00000413848.1_RNA NM_173822.3 NP_776183.1 Q8IXS8 F126B_HUMAN family with sequence similarity 126, member B 382 intracellular endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 16 CTTGGCTGAACGCCCAGTTGC 0.493000 22 31 0 0 1 0 0 SLC25A4 291 broad.mit.edu 37 4 186066341 186066341 + Missense_Mutation SNP G G A TCGA-TM-A84B-01A-11D-A36O-08 TCGA-TM-A84B-12A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c782dd9-677c-4812-b310-acbef4325053 15750dd9-70fb-49e2-b349-b02ba6447d41 g.chr4:186066341G>A ENST00000281456.5 + 2 667 c.535G>A c.(535-537)Gtc>Atc p.V179I SLC25A4_ENST00000515584.1_3'UTR NM_001151.3 NP_001142.2 P12235 ADT1_HUMAN solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 179 energy reserve metabolic process|interspecies interaction between organisms|mitochondrial genome maintenance|negative regulation of necrotic cell death|regulation of insulin secretion|viral reproduction integral to plasma membrane|mitochondrial inner membrane adenine transmembrane transporter activity|protein binding endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1) 10 all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;4.48e-44)|Epithelial(43;2.1e-41)|all cancers(43;1.37e-36)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) Adenosine triphosphate(DB00171)|Clodronate(DB00720) GGGTTTCAACGTCTCTGTCCA 0.562000 12 15 0 0 1 0 0 NDOR1 27158 broad.mit.edu 37 9 140110110 140110110 + Splice_Site SNP G G A TCGA-TM-A84B-01A-11D-A36O-08 TCGA-TM-A84B-12A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c782dd9-677c-4812-b310-acbef4325053 15750dd9-70fb-49e2-b349-b02ba6447d41 g.chr9:140110110G>A ENST00000371521.4 + 11 1371 c.e11-1 NDOR1_ENST00000458322.2_Splice_Site|NDOR1_ENST00000344894.5_Splice_Site|NDOR1_ENST00000427047.2_Splice_Site NM_001144026.1 NP_001137498.1 Q9UHB4 NDOR1_HUMAN NADPH dependent diflavin oxidoreductase 1 cell death cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) TCCTGCAATAGGACCTGTCCG 0.607000 20 15 0 0 1 0 0 ATG4D 84971 broad.mit.edu 37 19 10659651 10659651 + Silent SNP C C T TCGA-TM-A84B-01A-11D-A36O-08 TCGA-TM-A84B-12A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c782dd9-677c-4812-b310-acbef4325053 15750dd9-70fb-49e2-b349-b02ba6447d41 g.chr19:10659651C>T ENST00000309469.4 + 6 1080 c.907C>T c.(907-909)Ctg>Ttg p.L303L ATG4D_ENST00000540862.1_Intron NM_032885.4 NP_116274.3 Q86TL0 ATG4D_HUMAN autophagy related 4D, cysteine peptidase 303 autophagy|protein transport cytoplasm cysteine-type endopeptidase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 19 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) TGTGGTCATCCTGGTGCCCGT 0.632000 25 23 0 0 1 0 0 BMS1 9790 broad.mit.edu 37 10 43292066 43292066 + Silent SNP C C T TCGA-TM-A84B-01A-11D-A36O-08 TCGA-TM-A84B-12A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c782dd9-677c-4812-b310-acbef4325053 15750dd9-70fb-49e2-b349-b02ba6447d41 g.chr10:43292066C>T ENST00000374518.4 + 10 1437 c.1374C>T c.(1372-1374)aaC>aaT p.N458N NM_014753.3 NP_055568.3 Q14692 BMS1_HUMAN BMS1 ribosome biogenesis factor 458 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 GGTTGGAAAACGGCTCTAGTG 0.443000 16 8 0 0 1 0 0 LSM14A 26065 broad.mit.edu 37 19 34685448 34685448 + Missense_Mutation SNP G G A TCGA-TM-A84B-01A-11D-A36O-08 TCGA-TM-A84B-12A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c782dd9-677c-4812-b310-acbef4325053 15750dd9-70fb-49e2-b349-b02ba6447d41 g.chr19:34685448G>A ENST00000544216.3 + 2 264 c.187G>A c.(187-189)Gaa>Aaa p.E63K LSM14A_ENST00000433627.5_Missense_Mutation_p.E63K|LSM14A_ENST00000540746.2_Missense_Mutation_p.E63K NM_015578.2 NP_056393.2 Q8ND56 LS14A_HUMAN LSM14A, SCD6 homolog A (S. cerevisiae) 63 cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1) 22 Esophageal squamous(110;0.162) TGAAGTCTTTGAATACATTAT 0.433000 76 124 0 0 1 0 0 SRRM3 222183 broad.mit.edu 37 7 75894112 75894112 + Missense_Mutation SNP A A T TCGA-TM-A84B-01A-11D-A36O-08 TCGA-TM-A84B-12A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c782dd9-677c-4812-b310-acbef4325053 15750dd9-70fb-49e2-b349-b02ba6447d41 g.chr7:75894112A>T ENST00000388802.4 + 9 913 c.704A>T c.(703-705)gAg>gTg p.E235V SRRM3_ENST00000326382.8_Missense_Mutation_p.E235V serine/arginine repetitive matrix 3 NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1) 8 AAAAGAAAAGAGAAGAACAAA 0.567000 13 21 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179485844 179485844 + Missense_Mutation SNP G G A TCGA-TM-A84B-01A-11D-A36O-08 TCGA-TM-A84B-12A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c782dd9-677c-4812-b310-acbef4325053 15750dd9-70fb-49e2-b349-b02ba6447d41 g.chr2:179485844G>A ENST00000589042.1 - 246 45825 c.45601C>T c.(45601-45603)Cac>Tac p.H15201Y TTN_ENST00000342175.6_Missense_Mutation_p.H6328Y|TTN_ENST00000460472.2_Missense_Mutation_p.H6136Y|TTN_ENST00000342992.6_Missense_Mutation_p.H12633Y|TTN_ENST00000359218.5_Missense_Mutation_p.H6261Y|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.H13560Y|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 13560 Fibronectin type-III 10. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACTGTCAAGTGAGCTGCTGCT 0.383000 18 16 0 0 1 0 0 AHR 196 broad.mit.edu 37 7 17379426 17379426 + Silent SNP C C T rs139422560 byFrequency TCGA-TM-A84B-01A-11D-A36O-08 TCGA-TM-A84B-12A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c782dd9-677c-4812-b310-acbef4325053 15750dd9-70fb-49e2-b349-b02ba6447d41 g.chr7:17379426C>T ENST00000242057.4 + 10 2620 c.1977C>T c.(1975-1977)ttC>ttT p.F659F NM_001621.4 NP_001612.1 P35869 AHR_HUMAN aryl hydrocarbon receptor 659 apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3) 33 Lung NSC(10;0.0392)|all_lung(11;0.0754) CTAACCAATTCGTGCCTTTCA 0.408000 45 102 0 0 1 0 0 MPDZ 8777 broad.mit.edu 37 9 13108990 13108990 + Missense_Mutation SNP C C A TCGA-TM-A84B-01A-11D-A36O-08 TCGA-TM-A84B-12A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c782dd9-677c-4812-b310-acbef4325053 15750dd9-70fb-49e2-b349-b02ba6447d41 g.chr9:13108990C>A ENST00000319217.7 - 46 6258 c.6011G>T c.(6010-6012)gGa>gTa p.G2004V MPDZ_ENST00000541093.1_Missense_Mutation_p.G238V|MPDZ_ENST00000381022.2_Missense_Mutation_p.G1975V|MPDZ_ENST00000546205.1_Missense_Mutation_p.G2018V|MPDZ_ENST00000447879.1_Missense_Mutation_p.G1971V|MPDZ_ENST00000541718.1_Missense_Mutation_p.G1975V|MPDZ_ENST00000381015.4_Missense_Mutation_p.G2004V|MPDZ_ENST00000538841.1_Missense_Mutation_p.G863V|MPDZ_ENST00000536827.1_Missense_Mutation_p.G1942V NM_001261406.1 NP_001248335.1 O75970 MPDZ_HUMAN multiple PDZ domain protein 2004 PDZ 13. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) GCTGCCATATCCTCCAACTAT 0.413000 7 6 8.12818e-05 8.12818e-05 1 1 0 TBCE 6905 broad.mit.edu 37 1 235543460 235543460 + Silent SNP G G C TCGA-TM-A84B-01A-11D-A36O-08 TCGA-TM-A84B-12A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c782dd9-677c-4812-b310-acbef4325053 15750dd9-70fb-49e2-b349-b02ba6447d41 g.chr1:235543460G>C ENST00000543662.1 + 2 202 c.96G>C c.(94-96)gtG>gtC p.V32V TBCE_ENST00000366601.3_Silent_p.V32V|TBCE_ENST00000406207.1_Silent_p.V32V|TBCE_ENST00000472011.1_3'UTR Q15813 TBCE_HUMAN tubulin folding cofactor E 32 CAP-Gly. 'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway cytoplasm|microtubule|nucleus|plasma membrane chaperone binding NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 14 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238) OV - Ovarian serous cystadenocarcinoma(106;2.56e-05) TCCCTCCCGTGGCAGGTAAGC 0.443000 17 28 0 0 1 0 0 HN1 51155 broad.mit.edu 37 17 73144759 73144759 + Missense_Mutation SNP G G A TCGA-TM-A84B-01A-11D-A36O-08 TCGA-TM-A84B-12A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c782dd9-677c-4812-b310-acbef4325053 15750dd9-70fb-49e2-b349-b02ba6447d41 g.chr17:73144759G>A ENST00000409753.3 - 2 349 c.64C>T c.(64-66)Cgg>Tgg p.R22W HN1_ENST00000482348.1_5'UTR|HN1_ENST00000581874.1_Missense_Mutation_p.R22W|HN1_ENST00000481647.1_5'UTR|HN1_ENST00000476258.1_5'UTR|HN1_ENST00000405458.3_5'UTR|HN1_ENST00000470924.1_5'UTR|HN1_ENST00000392566.2_5'UTR|HN1_ENST00000356033.4_Missense_Mutation_p.R22W|HN1_ENST00000465454.1_5'UTR NM_016185.2 NP_057269.1 Q9UK76 HN1_HUMAN hematological and neurological expressed 1 22 nucleus HN1/USH1G(2) breast(1) 1 all_lung(278;0.14)|Lung NSC(278;0.168) CCTGGAGGCCGCAAAACTCTG 0.393000 3 51 0 0 1 0 0 STAT1 6772 broad.mit.edu 37 2 191865866 191865866 + Silent SNP G G A TCGA-TM-A84B-01A-11D-A36O-08 TCGA-TM-A84B-12A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c782dd9-677c-4812-b310-acbef4325053 15750dd9-70fb-49e2-b349-b02ba6447d41 g.chr2:191865866G>A ENST00000361099.3 - 6 783 c.396C>T c.(394-396)agC>agT p.S132S STAT1_ENST00000540176.1_Silent_p.S132S|STAT1_ENST00000409465.1_Silent_p.S132S|STAT1_ENST00000392322.3_Silent_p.S132S|STAT1_ENST00000392323.2_Silent_p.S134S NM_007315.3 NP_009330.1 P42224 STAT1_HUMAN signal transducer and activator of transcription 1, 91kDa 132 activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein cytosol|nucleolus|nucleoplasm calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141) Fludarabine(DB01073) ACATCACTGTGCTCTGAATAT 0.413000 25 34 0 0 1 0 0 HAO1 54363 broad.mit.edu 37 20 7915166 7915166 + Missense_Mutation SNP A A T TCGA-TM-A84B-01A-11D-A36O-08 TCGA-TM-A84B-12A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c782dd9-677c-4812-b310-acbef4325053 15750dd9-70fb-49e2-b349-b02ba6447d41 g.chr20:7915166A>T ENST00000378789.3 - 2 305 c.254T>A c.(253-255)aTg>aAg p.M85K NM_017545.2 NP_060015.1 Q9UJM8 HAOX1_HUMAN hydroxyacid oxidase (glycolate oxidase) 1 85 FMN hydroxy acid dehydrogenase. cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process peroxisomal matrix FMN binding|glycolate oxidase activity|glyoxylate oxidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 CACATGAGCCATGCGCTGCAT 0.532000 23 26 0 0 1 0 0 UNCX 340260 broad.mit.edu 37 7 1275471 1275471 + Missense_Mutation SNP T T C TCGA-TM-A84B-01A-11D-A36O-08 TCGA-TM-A84B-12A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c782dd9-677c-4812-b310-acbef4325053 15750dd9-70fb-49e2-b349-b02ba6447d41 g.chr7:1275471T>C ENST00000316333.8 + 3 565 c.454T>C c.(454-456)Tgg>Cgg p.W152R NM_001080461.1 NP_001073930.1 A6NJT0 UNC4_HUMAN UNC homeobox 152 cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(2)|skin(1)|upper_aerodigestive_tract(1) 4 Ovarian(82;0.11) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15) GCTCTAGGTCTGGTTCCAAAA 0.697000 8 14 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228564858 228564858 + Silent SNP C C T TCGA-TM-A84B-01A-11D-A36O-08 TCGA-TM-A84B-12A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c782dd9-677c-4812-b310-acbef4325053 15750dd9-70fb-49e2-b349-b02ba6447d41 g.chr1:228564858C>T ENST00000570156.2 + 112 26090 c.26016C>T c.(26014-26016)cgC>cgT p.R8672R OBSCN_ENST00000366707.4_Silent_p.R5349R|OBSCN_ENST00000422127.1_Silent_p.R7715R NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 7715 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CAGTGCTGCGCGAATACGAGG 0.677000 6 10 0 0 1 0 0 IGKV2D-29 0 broad.mit.edu 37 2 89986862 89986862 + RNA SNP G G A TCGA-TM-A84B-01A-11D-A36O-08 TCGA-TM-A84B-12A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c782dd9-677c-4812-b310-acbef4325053 15750dd9-70fb-49e2-b349-b02ba6447d41 g.chr2:89986862G>A ENST00000491977.1 + 0 173 TCTAGTCAGAGCCTCCTGCAT 0.522000 28 34 0 0 1 0 0 MAPK11 5600 broad.mit.edu 37 22 50705842 50705842 + Silent SNP C C T TCGA-TM-A84B-01A-11D-A36O-08 TCGA-TM-A84B-12A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c782dd9-677c-4812-b310-acbef4325053 15750dd9-70fb-49e2-b349-b02ba6447d41 g.chr22:50705842C>T ENST00000330651.6 - 4 475 c.375G>A c.(373-375)gaG>gaA p.E125E MAPK11_ENST00000449719.2_Silent_p.E17E|MAPK11_ENST00000495277.1_5'UTR NM_002751.5 NP_002742.3 Q15759 MK11_HUMAN mitogen-activated protein kinase 11 125 Protein kinase. activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase activity|protein binding breast(1)|central_nervous_system(1)|lung(4) 6 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) ATTGAACGTGCTCGTCGCTCA 0.701000 10 2 0 0 1 0 0 NLRP2 55655 broad.mit.edu 37 19 55494752 55494752 + Silent SNP C C T TCGA-TM-A84B-01A-11D-A36O-08 TCGA-TM-A84B-12A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c782dd9-677c-4812-b310-acbef4325053 15750dd9-70fb-49e2-b349-b02ba6447d41 g.chr19:55494752C>T ENST00000543010.1 + 6 1829 c.1686C>T c.(1684-1686)aaC>aaT p.N562N NLRP2_ENST00000538819.1_Silent_p.N538N|NLRP2_ENST00000537859.1_Silent_p.N540N|NLRP2_ENST00000339757.7_Silent_p.N540N|NLRP2_ENST00000427260.2_Silent_p.N539N|NLRP2_ENST00000391721.4_Silent_p.N538N|NLRP2_ENST00000263437.6_Silent_p.N559N|NLRP2_ENST00000448584.2_Silent_p.N562N NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 562 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) GCCTCGCTAACGAGAAGAGAG 0.542000 20 49 0 0 1 0 0 ETAA1 54465 broad.mit.edu 37 2 67631743 67631743 + Silent SNP C C T TCGA-TM-A84B-01A-11D-A36O-08 TCGA-TM-A84B-12A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c782dd9-677c-4812-b310-acbef4325053 15750dd9-70fb-49e2-b349-b02ba6447d41 g.chr2:67631743C>T ENST00000272342.5 + 5 2059 c.1929C>T c.(1927-1929)tcC>tcT p.S643S ETAA1_ENST00000462772.1_Intron NM_019002.3 NP_061875.2 Q9NY74 ETAA1_HUMAN Ewing tumor-associated antigen 1 643 cytoplasm|nucleus autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1) 33 ATAATAATTCCGAACATGGAG 0.358000 68 99 0 0 1 0 0 SERPINB13 5275 broad.mit.edu 37 18 61264400 61264400 + Missense_Mutation SNP G G A TCGA-TM-A84B-01A-11D-A36O-08 TCGA-TM-A84B-12A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c782dd9-677c-4812-b310-acbef4325053 15750dd9-70fb-49e2-b349-b02ba6447d41 g.chr18:61264400G>A ENST00000344731.5 + 8 1081 c.979G>A c.(979-981)Gcc>Acc p.A327T SERPINB13_ENST00000269489.5_Missense_Mutation_p.A275T NM_012397.3 NP_036529.1 Q9UIV8 SPB13_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 13 327 regulation of proteolysis|response to UV cytoplasm|extracellular region serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1) 25 CGGGTTGTACGCCCAGAAGTT 0.592000 23 30 0 0 1 0 0 SLC27A2 11001 broad.mit.edu 37 15 50497454 50497454 + Missense_Mutation SNP G G A TCGA-TM-A84B-01A-11D-A36O-08 TCGA-TM-A84B-12A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c782dd9-677c-4812-b310-acbef4325053 15750dd9-70fb-49e2-b349-b02ba6447d41 g.chr15:50497454G>A ENST00000267842.5 + 4 1098 c.866G>A c.(865-867)cGg>cAg p.R289Q SLC27A2_ENST00000380902.4_Missense_Mutation_p.R236Q|SLC27A2_ENST00000544960.1_Missense_Mutation_p.R54Q NM_003645.3 NP_003636.2 O14975 S27A2_HUMAN solute carrier family 27 (fatty acid transporter), member 2 289 bile acid biosynthetic process|fatty acid alpha-oxidation endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_lung(180;0.00177) all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113) CTTGCCTTGCGGACTAAATTT 0.398000 44 66 0 0 1 0 0 PCDHA3 0 broad.mit.edu 37 5 140182557 140182557 + Missense_Mutation SNP C C T TCGA-TM-A84B-01A-11D-A36O-08 TCGA-TM-A84B-12A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c782dd9-677c-4812-b310-acbef4325053 15750dd9-70fb-49e2-b349-b02ba6447d41 g.chr5:140182557C>T ENST00000522353.2 + 1 1775 c.1775C>T c.(1774-1776)gCg>gTg p.A592V PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.A592V|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_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) CACGTGGTAGCGAAGGTGCGC 0.682000 42 42 0 0 1 0 0 RGPD4 285190 broad.mit.edu 37 2 108455411 108455411 + Silent SNP T T C TCGA-TM-A84B-01A-11D-A36O-08 TCGA-TM-A84B-12A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c782dd9-677c-4812-b310-acbef4325053 15750dd9-70fb-49e2-b349-b02ba6447d41 g.chr2:108455411T>C ENST00000408999.3 + 4 473 c.396T>C c.(394-396)taT>taC p.Y132Y RGPD4_ENST00000354986.4_Silent_p.Y132Y NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 132 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 CTGCAATTTATAAACTAAAGG 0.318000 69 67 0 0 1 0 0 LSM14A 26065 broad.mit.edu 37 19 34685496 34685496 + Missense_Mutation SNP G G A TCGA-TM-A84B-01A-11D-A36O-08 TCGA-TM-A84B-12A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c782dd9-677c-4812-b310-acbef4325053 15750dd9-70fb-49e2-b349-b02ba6447d41 g.chr19:34685496G>A ENST00000544216.3 + 2 312 c.235G>A c.(235-237)Gag>Aag p.E79K LSM14A_ENST00000433627.5_Missense_Mutation_p.E79K|LSM14A_ENST00000540746.2_Missense_Mutation_p.E79K NM_015578.2 NP_056393.2 Q8ND56 LS14A_HUMAN LSM14A, SCD6 homolog A (S. cerevisiae) 79 cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1) 22 Esophageal squamous(110;0.162) TACTGTTTGTGAGCCACCAAA 0.438000 82 108 0 0 1 0 0 CDRT4 284040 broad.mit.edu 37 17 15341350 15341350 + Nonsense_Mutation SNP G G A TCGA-TM-A84B-01A-11D-A36O-08 TCGA-TM-A84B-12A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c782dd9-677c-4812-b310-acbef4325053 15750dd9-70fb-49e2-b349-b02ba6447d41 g.chr17:15341350G>A ENST00000312177.6 - 4 476 c.196C>T c.(196-198)Cag>Tag p.Q66* TVP23C_ENST00000519970.1_3'UTR|TVP23C-CDRT4_ENST00000522212.2_3'UTR|CDRT4_ENST00000519354.1_5'UTR NM_001204477.1 NP_001191406.1 Q8N9R6 CDRT4_HUMAN CMT1A duplicated region transcript 4 66 endometrium(3)|skin(1) 4 UCEC - Uterine corpus endometrioid carcinoma (92;0.0874) GGTTTATTCTGCCTTGATGCC 0.483000 39 38 0 0 1 0 0 RAPSN 5913 broad.mit.edu 37 11 47469622 47469622 + Silent SNP G G A TCGA-TM-A84B-01A-11D-A36O-08 TCGA-TM-A84B-12A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c782dd9-677c-4812-b310-acbef4325053 15750dd9-70fb-49e2-b349-b02ba6447d41 g.chr11:47469622G>A ENST00000298854.2 - 2 486 c.273C>T c.(271-273)cgC>cgT p.R91R RAPSN_ENST00000524487.1_Silent_p.R91R|RAPSN_ENST00000352508.3_Silent_p.R91R|RAPSN_ENST00000529341.1_Silent_p.R91R NM_005055.4 NP_005046.2 Q13702 RAPSN_HUMAN receptor-associated protein of the synapse 91 synaptic transmission, cholinergic cell junction|cytoskeleton|postsynaptic membrane acetylcholine receptor binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(6)|ovary(2) 12 TCTCGTTGCTGCGTGCCAGGT 0.632000 9 23 0 0 1 0 0 ASB10 136371 broad.mit.edu 37 7 150883516 150883516 + Missense_Mutation SNP G G A TCGA-TM-A84B-01A-11D-A36O-08 TCGA-TM-A84B-12A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c782dd9-677c-4812-b310-acbef4325053 15750dd9-70fb-49e2-b349-b02ba6447d41 g.chr7:150883516G>A ENST00000422024.1 - 2 807 c.682C>T c.(682-684)Cgc>Tgc p.R228C ASB10_ENST00000434669.1_Missense_Mutation_p.R228C|ASB10_ENST00000377867.3_Missense_Mutation_p.R168C|ASB10_ENST00000420175.2_Missense_Mutation_p.R183C|ASB10_ENST00000275838.1_Missense_Mutation_p.R183C NM_001142459.1 NP_001135931.2 Q8WXI3 ASB10_HUMAN ankyrin repeat and SOCS box containing 10 183 intracellular signal transduction NS(1)|endometrium(2)|lung(7)|skin(2) 12 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGCAGGGGGCGTTTCCCATCC 0.642000 4 5 0 0 1 0 0 HKDC1 80201 broad.mit.edu 37 10 70986987 70986987 + Missense_Mutation SNP C C T TCGA-TM-A84B-01A-11D-A36O-08 TCGA-TM-A84B-12A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c782dd9-677c-4812-b310-acbef4325053 15750dd9-70fb-49e2-b349-b02ba6447d41 g.chr10:70986987C>T ENST00000354624.5 + 2 221 c.88C>T c.(88-90)Cgg>Tgg p.R30W RP11-227H15.4_ENST00000450995.1_RNA|HKDC1_ENST00000395086.2_Missense_Mutation_p.R30W NM_025130.3 NP_079406.3 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 30 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 GTATCACATGCGGCTCTCCGA 0.612000 4 35 0 0 1 0 0 GOLGA8DP 0 broad.mit.edu 37 15 22709637 22709637 + RNA SNP T T G rs140467724 by1000genomes TCGA-TM-A84B-01A-11D-A36O-08 TCGA-TM-A84B-12A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c782dd9-677c-4812-b310-acbef4325053 15750dd9-70fb-49e2-b349-b02ba6447d41 g.chr15:22709637T>G ENST00000314246.8 - 0 1147 CCCATCTGGTTTTTGAGTTTG 0.547000 4 354 0 0 1 0 0 EDC4 23644 broad.mit.edu 37 16 67913854 67913854 + Silent SNP T T C TCGA-TM-A84B-01A-11D-A36O-08 TCGA-TM-A84B-12A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c782dd9-677c-4812-b310-acbef4325053 15750dd9-70fb-49e2-b349-b02ba6447d41 g.chr16:67913854T>C ENST00000358933.5 + 16 2162 c.1923T>C c.(1921-1923)gcT>gcC p.A641A NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 641 Ser-rich. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) GCACCTCAGCTGTGGACCCCT 0.612000 6 9 0 0 1 0 0 WWP2 11060 broad.mit.edu 37 16 69971126 69971126 + Silent SNP C C T TCGA-TM-A84B-01A-11D-A36O-08 TCGA-TM-A84B-12A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c782dd9-677c-4812-b310-acbef4325053 15750dd9-70fb-49e2-b349-b02ba6447d41 g.chr16:69971126C>T ENST00000359154.2 + 20 2324 c.2223C>T c.(2221-2223)gaC>gaT p.D741D WWP2_ENST00000568684.1_Silent_p.D302D|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Silent_p.D741D|WWP2_ENST00000542271.1_Silent_p.D625D|WWP2_ENST00000356003.2_Silent_p.D741D NM_001270454.1|NM_007014.4 NP_001257383.1|NP_008945.2 O00308 WWP2_HUMAN WW domain containing E3 ubiquitin protein ligase 2 741 HECT. entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 GCTACTTTGACGAGAAAGAGC 0.602000 13 12 0 0 1 0 0 TNFSF14 0 broad.mit.edu 37 19 6664992 6664992 + Missense_Mutation SNP C C T TCGA-TM-A84B-01A-11D-A36O-08 TCGA-TM-A84B-12A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c782dd9-677c-4812-b310-acbef4325053 15750dd9-70fb-49e2-b349-b02ba6447d41 g.chr19:6664992C>T ENST00000326176.9 - 5 941 c.560G>A c.(559-561)cGc>cAc p.R187H TNFSF14_ENST00000599359.1_Missense_Mutation_p.R223H|TNFSF14_ENST00000245912.3_Missense_Mutation_p.R187H NM_003807.3|NM_172014.2 NP_003798.2|NP_742011.2 O43557 TNF14_HUMAN tumor necrosis factor (ligand) superfamily, member 14 223 cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation cytoplasm|extracellular space|integral to membrane|plasma membrane caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 TCGAACCAGGCGTTCATCCAG 0.607000 41 73 0 0 1 0 0 SCN9A 6335 broad.mit.edu 37 2 167055493 167055493 + Missense_Mutation SNP G G A TCGA-TM-A84B-01A-11D-A36O-08 TCGA-TM-A84B-12A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c782dd9-677c-4812-b310-acbef4325053 15750dd9-70fb-49e2-b349-b02ba6447d41 g.chr2:167055493G>A ENST00000375387.4 - 27 5999 c.5659C>T c.(5659-5661)Cgg>Tgg p.R1887W AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Missense_Mutation_p.R1886W|SCN9A_ENST00000409672.1_Missense_Mutation_p.R1875W|SCN9A_ENST00000303354.6_Missense_Mutation_p.R1887W Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 1886 voltage-gated sodium channel complex voltage-gated sodium channel activity p.R1875W(1) NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) TCTTGTTTCCGTTTTAGTGTG 0.403000 48 78 0 0 1 0 0 PCMTD1 115294 broad.mit.edu 37 8 52733212 52733212 + Missense_Mutation SNP A A G TCGA-TM-A84B-01A-11D-A36O-08 TCGA-TM-A84B-12A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c782dd9-677c-4812-b310-acbef4325053 15750dd9-70fb-49e2-b349-b02ba6447d41 g.chr8:52733212A>G ENST00000360540.5 - 7 1179 c.773T>C c.(772-774)tTc>tCc p.F258S PCMTD1_ENST00000522514.1_Missense_Mutation_p.F258S|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Missense_Mutation_p.F182S NM_052937.2 NP_443169.2 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 258 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1) 37 Lung NSC(129;0.0795)|all_lung(136;0.144) ATCATTTATGAAATTTCTAAG 0.393000 5 96 0 0 1 0 0 PPFIA2 8499 broad.mit.edu 37 12 81746923 81746923 + Silent SNP A A G TCGA-TM-A84B-01A-11D-A36O-08 TCGA-TM-A84B-12A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c782dd9-677c-4812-b310-acbef4325053 15750dd9-70fb-49e2-b349-b02ba6447d41 g.chr12:81746923A>G ENST00000550584.2 - 16 2264 c.1969T>C c.(1969-1971)Ttg>Ctg p.L657L PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000541570.2_Silent_p.L224L|PPFIA2_ENST00000407050.4_Silent_p.L583L|PPFIA2_ENST00000550359.2_Silent_p.L504L|PPFIA2_ENST00000552948.1_Silent_p.L657L|PPFIA2_ENST00000548586.1_Silent_p.L657L|PPFIA2_ENST00000443686.3_Silent_p.L558L|PPFIA2_ENST00000333447.7_Silent_p.L639L|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549396.1_Silent_p.L657L|PPFIA2_ENST00000549325.1_Silent_p.L639L NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 583 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 ATGGCATCCAATTGTTCCTGA 0.368000 19 28 0 0 1 0 0 CDH22 64405 broad.mit.edu 37 20 44839196 44839196 + Missense_Mutation SNP G G C TCGA-TM-A84B-01A-11D-A36O-08 TCGA-TM-A84B-12A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c782dd9-677c-4812-b310-acbef4325053 15750dd9-70fb-49e2-b349-b02ba6447d41 g.chr20:44839196G>C ENST00000372262.3 - 6 1436 c.1036C>G c.(1036-1038)Ctg>Gtg p.L346V CDH22_ENST00000474438.1_5'UTR|CDH22_ENST00000537909.1_Missense_Mutation_p.L346V NM_021248.1 NP_067071.1 Q9UJ99 CAD22_HUMAN cadherin 22, type 2 346 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) TCGAAGTCCAGGCGCTGCGGG 0.682000 12 16 0 0 1 0 0 UGT2A1 10941 broad.mit.edu 37 4 70465099 70465099 + Silent SNP C C T rs141938191 TCGA-TM-A84B-01A-11D-A36O-08 TCGA-TM-A84B-12A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c782dd9-677c-4812-b310-acbef4325053 15750dd9-70fb-49e2-b349-b02ba6447d41 g.chr4:70465099C>T ENST00000503640.1 - 2 784 c.729G>A c.(727-729)acG>acA p.T243T UGT2A1_ENST00000512704.1_Silent_p.T243T|UGT2A2_ENST00000457664.2_Silent_p.T252T|UGT2A1_ENST00000502343.1_5'UTR|UGT2A1_ENST00000514019.1_Silent_p.T453T|UGT2A1_ENST00000286604.4_Silent_p.T287T NM_006798.3 NP_006789.2 Q9Y4X1 UD2A1_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus 243 detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 TCTCACATAACGTAGTGGGTC 0.368000 27 37 0 0 1 0 0 SNED1 25992 broad.mit.edu 37 2 242002232 242002232 + Missense_Mutation SNP C C T TCGA-TM-A84B-01A-11D-A36O-08 TCGA-TM-A84B-12A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c782dd9-677c-4812-b310-acbef4325053 15750dd9-70fb-49e2-b349-b02ba6447d41 g.chr2:242002232C>T ENST00000310397.8 + 17 2282 c.2282C>T c.(2281-2283)cCg>cTg p.P761L SNED1_ENST00000342631.6_Missense_Mutation_p.P761L|SNED1_ENST00000405547.3_Missense_Mutation_p.P761L|SNED1_ENST00000401884.1_Missense_Mutation_p.P761L|AC005237.4_ENST00000458377.1_RNA NM_001080437.1 NP_001073906.1 Q8TER0 SNED1_HUMAN sushi, nidogen and EGF-like domains 1 761 EGF-like 11; calcium-binding (Potential). cell-matrix adhesion extracellular region calcium ion binding NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1) 24 all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109) CGGTCTCAGCCGTGCCTGCAT 0.557000 3 11 0 0 1 0 0 PXDN 7837 broad.mit.edu 37 2 1653369 1653369 + Missense_Mutation SNP C C T TCGA-TM-A84B-01A-11D-A36O-08 TCGA-TM-A84B-12A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c782dd9-677c-4812-b310-acbef4325053 15750dd9-70fb-49e2-b349-b02ba6447d41 g.chr2:1653369C>T ENST00000252804.4 - 17 2233 c.2183G>A c.(2182-2184)cGc>cAc p.R728H NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 728 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity p.R728H(1) breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) GTTGTTCACGCGCCGGTGGGC 0.602000 29 32 0 0 1 0 0 CEACAM20 125931 broad.mit.edu 37 19 45017234 45017234 + RNA SNP C C G TCGA-TM-A84B-01A-11D-A36O-08 TCGA-TM-A84B-12A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c782dd9-677c-4812-b310-acbef4325053 15750dd9-70fb-49e2-b349-b02ba6447d41 g.chr19:45017234C>G ENST00000454753.1 - 0 1702 Q6UY09 CEA20_HUMAN carcinoembryonic antigen-related cell adhesion molecule 20 integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1) 15 Prostate(69;0.0352) GTGTTACCGTCTGGCATTTCT 0.582000 OREG0025538 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 25 0 0 1 0 0 ZC3H11A 9877 broad.mit.edu 37 1 203786224 203786225 + Frame_Shift_Ins INS - - T TCGA-TM-A84B-01A-11D-A36O-08 TCGA-TM-A84B-12A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c782dd9-677c-4812-b310-acbef4325053 15750dd9-70fb-49e2-b349-b02ba6447d41 g.chr1:203786224_203786225insT ENST00000545588.1 + 2 3853_3854 c.26_27insT c.(25-27)tttfs p.F9fs ZC3H11A_ENST00000367214.1_Frame_Shift_Ins_p.F9fs|ZC3H11A_ENST00000367212.3_Frame_Shift_Ins_p.F9fs|ZC3H11A_ENST00000332127.4_Frame_Shift_Ins_p.F9fs|ZC3H11A_ENST00000367210.1_Frame_Shift_Ins_p.F9fs NM_001271675.1 NP_001258604.1 O75152 ZC11A_HUMAN zinc finger CCCH-type containing 11A 9 nucleic acid binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(21;0.0904)|all_epithelial(62;0.234) BRCA - Breast invasive adenocarcinoma(75;0.109) GAAGACTGCTATTTTTTTTTCT 0.371 8 244 --- --- --- --- PTEN 5728 broad.mit.edu 37 10 89712016 89712019 + Splice_Site DEL AGTA AGTA - TCGA-TM-A84B-01A-11D-A36O-08 TCGA-TM-A84B-12A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c782dd9-677c-4812-b310-acbef4325053 15750dd9-70fb-49e2-b349-b02ba6447d41 g.chr10:89712016_89712019delAGTA ENST00000371953.3 + 6 1991 c.634_splice c.e6+1 p.212_splice PTEN_ENST00000472832.1_3'UTR NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 212 C2 tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.?(11)|p.R55fs*1(5)|p.G165fs*9(3)|p.Y27fs*1(2)|p.G165_*404del(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) CGGAACTTGCAGTAAGTGCTTGAA 0.338 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 55 15 --- --- --- --- SERPINB11 89778 broad.mit.edu 37 18 61388270 61388271 + RNA DEL AC AC - TCGA-TM-A84B-01A-11D-A36O-08 TCGA-TM-A84B-12A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c782dd9-677c-4812-b310-acbef4325053 15750dd9-70fb-49e2-b349-b02ba6447d41 g.chr18:61388270_61388271delAC ENST00000544088.1 + 0 836 SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA NM_080475.2 NP_536723.2 Q96P15 SPB11_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1)|cervix(1)|kidney(1)|lung(3) 6 Esophageal squamous(42;0.129) GTGCATGTTAACACACACACAC 0.386 2 4 --- --- --- --- PRR12 57479 broad.mit.edu 37 19 50098262 50098263 + Frame_Shift_Ins INS - - C TCGA-TM-A84B-01A-11D-A36O-08 TCGA-TM-A84B-12A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c782dd9-677c-4812-b310-acbef4325053 15750dd9-70fb-49e2-b349-b02ba6447d41 g.chr19:50098262_50098263insC ENST00000418929.2 + 4 682_683 c.670_671insC c.(670-672)cccfs p.P224fs NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 4 Pro-rich. DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) TCCAGCCCAGACCCCCCCTTAC 0.703 4 6 --- --- --- ---