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 PUS7 54517 broad.mit.edu 37 7 105142964 105142964 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr7:105142964G>A ENST00000356362.2 - 5 847 c.633C>T c.(631-633)atC>atT p.I211I PUS7_ENST00000469408.1_Silent_p.I211I NM_019042.3 NP_061915.2 Q96PZ0 PUS7_HUMAN pseudouridylate synthase 7 homolog (S. cerevisiae) 211 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1) 23 ACAGAGATTTGATAGCCTGAT 0.398000 50 50 0 0 1 0 0 SLFN5 162394 broad.mit.edu 37 17 33591757 33591757 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:33591757C>T ENST00000299977.4 + 4 1842 c.1694C>T c.(1693-1695)tCa>tTa p.S565L SLFN5_ENST00000542451.1_Intron NM_144975.3 NP_659412.3 Q08AF3 SLFN5_HUMAN schlafen family member 5 565 cell differentiation ATP binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2) 34 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0191) GAGTTGCTTTCAAAGAACCTT 0.438000 54 149 0 0 1 0 0 ICK 22858 broad.mit.edu 37 6 52876970 52876970 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:52876970C>T ENST00000356971.3 - 11 1697 c.1208G>A c.(1207-1209)aGa>aAa p.R403K ICK_ENST00000350082.5_Missense_Mutation_p.R403K NM_016513.4 NP_057597.2 Q9UPZ9 ICK_HUMAN intestinal cell (MAK-like) kinase 403 intracellular protein kinase cascade|multicellular organismal development cytosol|nucleus ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1) 31 Lung NSC(77;0.103) ACCCCACCTTCTCCTACTCTT 0.458000 15 51 0 0 1 0 0 PFKP 5214 broad.mit.edu 37 10 3174631 3174631 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr10:3174631C>T ENST00000381075.2 + 20 2108 c.1884C>T c.(1882-1884)ctC>ctT p.L628L PFKP_ENST00000381072.1_Silent_p.L54L|PFKP_ENST00000381125.4_Silent_p.L636L NM_001242339.1 NP_001229268.1 Q01813 K6PP_HUMAN phosphofructokinase, platelet 636 glycolysis 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142) GCCTTGTGCTCAGGTGAGAGA 0.488000 37 84 0 0 1 0 0 LHX9 56956 broad.mit.edu 37 1 197889112 197889112 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:197889112C>T ENST00000367390.3 + 3 185 c.158C>T c.(157-159)cCg>cTg p.P53L LHX9_ENST00000367391.1_Missense_Mutation_p.P53L|LHX9_ENST00000561173.1_Missense_Mutation_p.P68L|LHX9_ENST00000367387.4_Missense_Mutation_p.P62L|LHX9_ENST00000337020.2_Missense_Mutation_p.P62L NM_001014434.1 NP_001014434.1 Q9NQ69 LHX9_HUMAN LIM homeobox 9 62 motor axon guidance|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1) 35 GGCATGCCCCCGCTCAGCCCG 0.667000 67 88 0 0 1 0 0 C9orf64 84267 broad.mit.edu 37 9 86570437 86570437 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:86570437G>A ENST00000376344.3 - 2 672 c.456C>T c.(454-456)ctC>ctT p.L152L C9orf64_ENST00000376340.2_Silent_p.L11L|C9orf64_ENST00000314700.1_Silent_p.L11L NM_032307.3 NP_115683.3 Q5T6V5 CI064_HUMAN chromosome 9 open reading frame 64 152 central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 15 CGGTTTCATTGAGAATCCGAT 0.483000 39 82 0 0 1 0 0 FNBP1 23048 broad.mit.edu 37 9 132687361 132687361 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:132687361G>C ENST00000420781.1 - 9 1083 c.865C>G c.(865-867)Cag>Gag p.Q289E FNBP1_ENST00000355681.3_Missense_Mutation_p.Q289E|FNBP1_ENST00000478129.1_5'UTR|FNBP1_ENST00000446176.2_Missense_Mutation_p.Q289E Q96RU3 FNBP1_HUMAN formin binding protein 1 289 Interaction with microtubules (By similarity).|Required for self-association and induction of membrane tubulation. endocytosis cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane identical protein binding|lipid binding Ovarian(14;0.000536) GBM - Glioblastoma multiforme(294;0.0378) TTCATTGGCTGAGTGTAATCC 0.413000 T MLL AML 37 65 0 0 1 0 0 LMCD1 29995 broad.mit.edu 37 3 8590521 8590521 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:8590521G>A ENST00000157600.3 + 4 887 c.655G>A c.(655-657)Gag>Aag p.E219K LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000454244.1_Missense_Mutation_p.E146K|LMCD1_ENST00000397386.3_Missense_Mutation_p.E107K|LMCD1_ENST00000535732.1_Missense_Mutation_p.E219K NM_014583.2 NP_055398.1 Q9NZU5 LMCD1_HUMAN LIM and cysteine-rich domains 1 219 positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent cytoplasm|extracellular space|nucleus transcription corepressor activity|zinc ion binding breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1) 16 OV - Ovarian serous cystadenocarcinoma(96;0.124) GGAAAAGCCAGAGGGGGCAGA 0.597000 29 49 0 0 1 0 0 KCNF1 3754 broad.mit.edu 37 2 11053024 11053024 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:11053024G>A ENST00000295082.1 + 1 962 c.472G>A c.(472-474)Gag>Aag p.E158K NM_002236.4 NP_002227.2 Q9H3M0 KCNF1_HUMAN potassium voltage-gated channel, subfamily F, member 1 158 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128) GGACGCAGCCGAGGGCCGCTG 0.692000 39 62 0 0 1 0 0 OR52L1 338751 broad.mit.edu 37 11 6007880 6007880 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:6007880G>C ENST00000332249.4 - 1 335 c.281C>G c.(280-282)tCc>tGc p.S94C NM_001005173.2 NP_001005173.2 Q8NGH7 O52L1_HUMAN olfactory receptor, family 52, subfamily L, member 1 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGGTGCAGTGGAGGAGGCCAG 0.527000 15 13 0 0 1 0 0 MRFAP1 93621 broad.mit.edu 37 4 6642650 6642650 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr4:6642650G>A ENST00000320912.4 + 2 714 c.61G>A c.(61-63)Gag>Aag p.E21K MRFAP1_ENST00000382581.4_Missense_Mutation_p.E21K|MRFAP1_ENST00000507420.1_Missense_Mutation_p.E21K NM_001272053.1 NP_001258982.1 Q9Y605 MOFA1_HUMAN Morf4 family associated protein 1 21 nucleus|perinuclear region of cytoplasm protein binding lung(1) 1 GCTGGAGCCCGAGGAGGATTT 0.642000 9 131 0 0 1 0 0 UBIAD1 29914 broad.mit.edu 37 1 11333645 11333645 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:11333645C>T ENST00000376810.5 + 1 383 c.57C>T c.(55-57)gtC>gtT p.V19V UBIAD1_ENST00000376804.2_Silent_p.V19V NM_013319.2 NP_037451.1 Q9Y5Z9 UBIA1_HUMAN UbiA prenyltransferase domain containing 1 19 menaquinone biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus prenyltransferase activity endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3) 12 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487) GAGAGACTGTCAAAGCTGGGG 0.597000 9 61 0 0 1 0 0 PANK3 79646 broad.mit.edu 37 5 168006268 168006268 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr5:168006268C>T ENST00000239231.6 - 1 337 c.21G>A c.(19-21)aaG>aaA p.K7K NM_024594.3 NP_078870.1 Q9H999 PANK3_HUMAN pantothenate kinase 3 7 coenzyme A biosynthetic process cytoplasm|nucleus ATP binding|pantothenate kinase activity NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 16 Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188) TACAGGGTTTCTTGGCATCTT 0.692000 11 19 0 0 1 0 0 TNIP3 79931 broad.mit.edu 37 4 122068306 122068306 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr4:122068306G>A ENST00000454328.1 - 9 860 c.633C>T c.(631-633)ttC>ttT p.F211F TNIP3_ENST00000507879.1_Silent_p.F281F|TNIP3_ENST00000509841.1_Silent_p.F288F|TNIP3_ENST00000057513.3_Silent_p.F211F|TNIP3_ENST00000511909.1_5'UTR Q96KP6 TNIP3_HUMAN TNFAIP3 interacting protein 3 211 NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2) 24 GTTCCTTTTTGAAGTCTTCTT 0.363000 6 49 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187540046 187540046 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr4:187540046G>A ENST00000441802.2 - 10 7903 c.7694C>T c.(7693-7695)tCa>tTa p.S2565L NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 2565 Cadherin 23. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TAAACGGACTGAGATCACTTT 0.413000 HNSCC(5;0.00058) 9 31 0 0 1 0 0 FLNB 2317 broad.mit.edu 37 3 58134041 58134041 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:58134041C>T ENST00000357272.4 + 35 6002 c.5837C>T c.(5836-5838)tCt>tTt p.S1946F FLNB_ENST00000419752.2_Missense_Mutation_p.S1766F|FLNB_ENST00000295956.4_Missense_Mutation_p.S1946F|FLNB_ENST00000348383.5_Missense_Mutation_p.S1946F|FLNB_ENST00000493452.1_Missense_Mutation_p.S1753F|FLNB_ENST00000358537.3_Missense_Mutation_p.S1922F|FLNB_ENST00000490882.1_Missense_Mutation_p.S1977F|FLNB_ENST00000429972.2_Missense_Mutation_p.S1935F O75369 FLNB_HUMAN filamin B, beta 1946 Interaction with the cytoplasmic tail of GP1BA. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) AAGGCCCCATCTGGCCGAGAC 0.612000 14 26 0 0 1 0 0 PRMT6 55170 broad.mit.edu 37 1 107599529 107599529 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:107599529C>T ENST00000361318.5 + 1 263 c.15C>T c.(13-15)cgC>cgT p.R5R PRMT6_ENST00000370078.1_Silent_p.R64R NM_018137.2 NP_060607.2 Q96LA8 ANM6_HUMAN protein arginine methyltransferase 6 64 base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1) 14 all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185) Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242) TCGCGGACCGCGTCCGCACCG 0.657000 13 39 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90049514 90049514 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr5:90049514G>A ENST00000405460.2 + 54 11341 c.11245G>A c.(11245-11247)Gac>Aac p.D3749N NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 3749 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AGGGGTTGAGGACTCATACAA 0.448000 20 45 0 0 1 0 0 PPM1G 5496 broad.mit.edu 37 2 27606329 27606329 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:27606329C>G ENST00000344034.4 - 7 1369 c.1105G>C c.(1105-1107)Gag>Cag p.E369Q PPM1G_ENST00000350803.4_Missense_Mutation_p.E369Q NM_177983.2 NP_817092.1 O15355 PPM1G_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1G 369 cell cycle arrest|protein dephosphorylation cytoplasm|nucleus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity p.E369*(1) endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 19 Acute lymphoblastic leukemia(172;0.155) ACTTCATCCTCTGGTTTGTGA 0.517000 24 118 0 0 1 0 0 RNF207 388591 broad.mit.edu 37 1 6272368 6272368 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:6272368C>T ENST00000377939.4 + 14 1501 c.1374C>T c.(1372-1374)ctC>ctT p.L458L RNF207_ENST00000377948.2_3'UTR NM_207396.2 NP_997279.2 Q6ZRF8 RN207_HUMAN ring finger protein 207 458 intracellular zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2) 16 Ovarian(185;0.0634) all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211) Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182) ACCACTCGCTCATCAAGGCGG 0.597000 32 47 0 0 1 0 0 ZNF638 27332 broad.mit.edu 37 2 71591368 71591368 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:71591368C>T ENST00000409544.1 + 5 2333 c.1703C>T c.(1702-1704)tCa>tTa p.S568L ZNF638_ENST00000264447.4_Missense_Mutation_p.S568L|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000377802.2_Missense_Mutation_p.S568L|ZNF638_ENST00000355812.3_Missense_Mutation_p.S568L NM_001252612.1 NP_001239541.1 Q14966 ZN638_HUMAN zinc finger protein 638 568 Arg-rich. RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 TCAAGGAGATCAGTGAGATCA 0.368000 30 54 0 0 1 0 0 ANP32A 8125 broad.mit.edu 37 15 69076812 69076812 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr15:69076812C>T ENST00000465139.2 - 4 593 c.450G>A c.(448-450)cgG>cgA p.R150R ANP32A_ENST00000560303.1_Silent_p.R150R|ANP32A_ENST00000483551.2_5'UTR NM_006305.3 NP_006296.1 P39687 AN32A_HUMAN acidic (leucine-rich) nuclear phosphoprotein 32 family, member A 150 LRRCT.|Necessary for tumor-suppressive function. intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm protein binding endometrium(1)|large_intestine(1)|lung(2) 4 CCTTGTCGTCCCGGTCATAGC 0.572000 21 47 0 0 1 0 0 CD300A 11314 broad.mit.edu 37 17 72462872 72462872 + Silent SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:72462872C>G ENST00000360141.3 + 1 318 c.30C>G c.(28-30)ctC>ctG p.L10L CD300A_ENST00000392625.3_Silent_p.L10L|CD300A_ENST00000361933.3_Silent_p.L10L|CD300A_ENST00000310828.5_Silent_p.L10L NM_001256841.1|NM_007261.3 NP_001243770.1|NP_009192.2 Q9UGN4 CLM8_HUMAN CD300a molecule 10 cell adhesion integral to membrane|plasma membrane receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1) 16 TGTTGCTTCTCTGGGTCCCAG 0.667000 3 14 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139151323 139151323 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr8:139151323C>T ENST00000395297.1 - 18 3977 c.3807G>A c.(3805-3807)caG>caA p.Q1269Q NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 1269 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TCTTCAGTTTCTGCATGAGCC 0.388000 HNSCC(54;0.14) 24 54 0 0 1 0 0 ARNTL 406 broad.mit.edu 37 11 13407235 13407235 + Splice_Site SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:13407235G>A ENST00000389708.3 + 19 2067 c.e19-1 ARNTL_ENST00000403510.3_Splice_Site|ARNTL_ENST00000396441.3_Splice_Site|ARNTL_ENST00000361003.4_Splice_Site|ARNTL_ENST00000401424.1_Splice_Site|ARNTL_ENST00000403482.3_Splice_Site|ARNTL_ENST00000389707.4_Splice_Site|ARNTL_ENST00000403290.1_Splice_Site O00327 BMAL1_HUMAN aryl hydrocarbon receptor nuclear translocator-like circadian rhythm|positive regulation of transcription from RNA polymerase II promoter transcription factor complex aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1) 20 Epithelial(150;0.0243) TTTGTTTGTAGATTTTAAATG 0.443000 9 27 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10265466 10265466 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:10265466G>A ENST00000418404.3 - 4 637 c.474C>T c.(472-474)atC>atT p.I158I MYH13_ENST00000252172.4_Silent_p.I158I Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 158 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 CATTGTCAGAGATGGAGAAGA 0.498000 8 202 0 0 1 0 0 SPIDR 23514 broad.mit.edu 37 8 48641625 48641625 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr8:48641625G>C ENST00000518074.1 + 18 2557 c.2386G>C c.(2386-2388)Gag>Cag p.E796Q SPIDR_ENST00000521214.1_Intron|SPIDR_ENST00000541342.1_Intron|SPIDR_ENST00000517693.1_Intron|SPIDR_ENST00000518060.1_Intron|SPIDR_ENST00000297423.4_Intron NM_001282919.1 NP_001269848.1 scaffolding protein involved in DNA repair AGCCAGGCCAGAGCACGCACG 0.602000 14 31 0 0 1 0 0 FRRS1 391059 broad.mit.edu 37 1 100177720 100177720 + Splice_Site SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:100177720C>T ENST00000414213.1 - 14 2023 c.e14-1 FRRS1_ENST00000287474.5_Splice_Site|FRRS1_ENST00000492943.1_Splice_Site Q6ZNA5 FRRS1_HUMAN ferric-chelate reductase 1 electron transport chain|transport integral to membrane ferric-chelate reductase activity|metal ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1) 26 all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201) Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206) CATTTGCCTTCTACCAAAATA 0.333000 34 56 0 0 1 0 0 METTL18 92342 broad.mit.edu 37 1 169761959 169761959 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:169761959G>A ENST00000310392.4 - 2 1231 c.878C>T c.(877-879)tCa>tTa p.S293L C1orf112_ENST00000498289.1_Intron|METTL18_ENST00000303469.2_Missense_Mutation_p.S293L NM_033418.2 NP_219486.1 O95568 MET18_HUMAN methyltransferase like 18 293 cytoplasm protein methyltransferase activity kidney(1)|large_intestine(3)|lung(4) 8 AATGGTTTCTGAGGTGAGAAT 0.343000 11 22 0 0 1 0 0 ZNF382 84911 broad.mit.edu 37 19 37117520 37117520 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:37117520G>A ENST00000435416.1 + 3 2213 c.718G>A c.(718-720)Gaa>Aaa p.E240K ZNF382_ENST00000423582.1_Missense_Mutation_p.E192K|ZNF382_ENST00000292928.2_Missense_Mutation_p.E241K|ZNF382_ENST00000439428.1_Missense_Mutation_p.E240K Q96SR6 ZN382_HUMAN zinc finger protein 382 241 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 34 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) AAGAACCTTTGAATACAATAA 0.383000 28 42 0 0 1 0 0 CNBD2 140894 broad.mit.edu 37 20 34618459 34618459 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr20:34618459G>A ENST00000373973.3 + 12 1793 c.1620G>A c.(1618-1620)acG>acA p.T540T CNBD2_ENST00000349339.1_Silent_p.T536T|CNBD2_ENST00000538900.1_3'UTR cyclic nucleotide binding domain containing 2 TCAACAAGACGACTAAACCTC 0.478000 145 236 0 0 1 0 0 ZNF695 57116 broad.mit.edu 37 1 247150906 247150906 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:247150906G>A ENST00000339986.7 - 4 1058 c.911C>T c.(910-912)tCc>tTc p.S304F ZNF695_ENST00000487338.2_Intron|ZNF695_ENST00000498046.2_Intron NM_020394.4 NP_065127 Q8IW36 ZN695_HUMAN zinc finger protein 695 304 regulation of transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 13 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) CAACTTAAAGGATTTGCCACA 0.358000 6 12 0 0 1 0 0 TBC1D13 54662 broad.mit.edu 37 9 131566386 131566386 + Silent SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:131566386C>G ENST00000372648.5 + 9 1056 c.906C>G c.(904-906)ctC>ctG p.L302L TBC1D13_ENST00000539497.1_Silent_p.L121L|TBC1D13_ENST00000223865.8_Intron NM_018201.3 NP_060671.3 Q9NVG8 TBC13_HUMAN TBC1 domain family, member 13 302 Rab-GAP TBC. intracellular Rab GTPase activator activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 6 ATGTGGAGCTCTACCTGAAAC 0.547000 26 47 0 0 1 0 0 IAH1 285148 broad.mit.edu 37 2 9616125 9616125 + Nonsense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:9616125C>T ENST00000497473.1 + 2 128 c.91C>T c.(91-93)Cag>Tag p.Q31* IAH1_ENST00000545602.1_Intron|IAH1_ENST00000482918.1_5'UTR|IAH1_ENST00000489468.1_3'UTR|IAH1_ENST00000470914.1_Intron NM_001039613.1 NP_001034702.1 Q2TAA2 IAH1_HUMAN isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae) 31 lipid catabolic process hydrolase activity, acting on ester bonds breast(1)|large_intestine(2)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) GTTTTCCTTCCAGCAGGGTGG 0.493000 12 19 0 0 1 0 0 FOXQ1 94234 broad.mit.edu 37 6 1313374 1313374 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:1313374C>T ENST00000296839.2 + 1 700 c.435C>T c.(433-435)atC>atT p.I145I NM_033260.3 NP_150285.3 Q9C009 FOXQ1_HUMAN forkhead box Q1 145 DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding lung(1)|urinary_tract(1) 2 Ovarian(93;0.0733) Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18) TGGCGGAGATCAACGAGTACC 0.642000 32 29 0 0 1 0 0 BMP1 649 broad.mit.edu 37 8 22052311 22052311 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr8:22052311C>T ENST00000306385.5 + 12 2188 c.1518C>T c.(1516-1518)atC>atT p.I506I BMP1_ENST00000397814.3_Silent_p.I506I|BMP1_ENST00000397816.3_Silent_p.I506I|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000306349.8_Silent_p.I506I NM_006129.4 NP_006120.1 P13497 BMP1_HUMAN bone morphogenetic protein 1 506 CUB 2. cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis extracellular space calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3) 30 Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11) GCACCCTCATCGGGCGCTACT 0.587000 26 65 0 0 1 0 0 TLX2 3196 broad.mit.edu 37 2 74743161 74743161 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:74743161C>T ENST00000233638.7 + 3 1023 c.700C>T c.(700-702)Ctg>Ttg p.L234L NM_016170.4 NP_057254.1 O43763 TLX2_HUMAN T-cell leukemia homeobox 2 234 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|ovary(1) 2 GCTCCTGCATCTGCAGCAGGA 0.761000 11 15 0 0 1 0 0 SESN2 83667 broad.mit.edu 37 1 28605669 28605669 + Missense_Mutation SNP A A G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:28605669A>G ENST00000253063.3 + 9 1594 c.1273A>G c.(1273-1275)Atc>Gtc p.I425V NM_031459.4 NP_113647.1 P58004 SESN2_HUMAN sestrin 2 425 cell cycle arrest cytoplasm|nucleus cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649) CAAGGTCTATATCAAGACAGT 0.502000 28 69 0 0 1 0 0 SPDL1 54908 broad.mit.edu 37 5 169021605 169021605 + Nonsense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr5:169021605C>T ENST00000265295.4 + 7 1090 c.811C>T c.(811-813)Cag>Tag p.Q271* SPDL1_ENST00000510751.1_3'UTR NM_017785.4 NP_060255.3 spindle apparatus coiled-coil protein 1 AATGGAACGTCAGCTCATCAG 0.343000 26 45 0 0 1 0 0 DOK1 1796 broad.mit.edu 37 2 74783531 74783531 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:74783531G>C ENST00000233668.5 + 5 1405 c.736G>C c.(736-738)Gag>Cag p.E246Q DOK1_ENST00000340004.6_3'UTR|DOK1_ENST00000409429.1_Missense_Mutation_p.E107Q|DOK1_ENST00000480318.1_3'UTR NM_001381.3 NP_001372.1 Q99704 DOK1_HUMAN docking protein 1, 62kDa (downstream of tyrosine kinase 1) 246 IRS-type PTB. fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway cytosol|perinuclear region of cytoplasm insulin receptor binding endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 CCAGGCAGTTGAGACTGCCAT 0.607000 58 56 0 0 1 0 0 FGD5 152273 broad.mit.edu 37 3 14863080 14863080 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:14863080G>C ENST00000285046.5 + 1 2612 c.2502G>C c.(2500-2502)caG>caC p.Q834H FGD5_ENST00000543601.1_Missense_Mutation_p.Q593H NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 834 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 GCAAACAGCAGAGTGCAGACC 0.522000 29 42 0 0 1 0 0 PRRC1 133619 broad.mit.edu 37 5 126860289 126860289 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr5:126860289C>T ENST00000442138.2 + 3 316 c.170C>T c.(169-171)tCt>tTt p.S57F PRRC1_ENST00000296666.8_Missense_Mutation_p.S57F|PRRC1_ENST00000512635.2_Missense_Mutation_p.S57F Q96M27 PRRC1_HUMAN proline-rich coiled-coil 1 57 Pro-rich. Golgi apparatus endometrium(1)|large_intestine(1)|lung(4) 6 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113) CTCGCATACTCTACTCCTCAG 0.493000 89 130 0 0 1 0 0 CDC37 11140 broad.mit.edu 37 19 10503962 10503962 + Silent SNP G G A rs138014063 byFrequency TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:10503962G>A ENST00000222005.2 - 6 935 c.882C>T c.(880-882)ccC>ccT p.P294P NM_007065.3 NP_008996.1 Q16543 CDC37_HUMAN cell division cycle 37 294 protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway unfolded protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 16 OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06) GBM - Glioblastoma multiforme(1328;0.0318) AGACCTCGACGGGGTCCAGGC 0.721000 14 39 0 0 1 0 0 NFE2L3 9603 broad.mit.edu 37 7 26224570 26224570 + Missense_Mutation SNP G G T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr7:26224570G>T ENST00000056233.3 + 4 1511 c.1252G>T c.(1252-1254)Gat>Tat p.D418Y NM_004289.6 NP_004280.5 Q9Y4A8 NF2L3_HUMAN nuclear factor, erythroid 2-like 3 418 transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7) 29 ACCAGATTCTGATTCTGGCCT 0.363000 51 51 2.43139e-17 2.52328e-17 1 1 0 PMS2P3 5387 broad.mit.edu 37 7 75156979 75156979 + RNA SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr7:75156979G>A ENST00000418756.1 - 0 474 NR_028059.1 lung(1) 1 GTCTGCTCGCGAGGTCCCCTC 0.726000 4 24 0 0 1 0 0 ZKSCAN1 7586 broad.mit.edu 37 7 99631037 99631037 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr7:99631037G>A ENST00000324306.6 + 6 1143 c.909G>A c.(907-909)gaG>gaA p.E303E ZKSCAN1_ENST00000535170.1_Silent_p.E90E|ZKSCAN1_ENST00000426572.1_Silent_p.E267E NM_003439.1 NP_003430.1 P17029 ZKSC1_HUMAN zinc finger with KRAB and SCAN domains 1 303 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) AGTTTGGAGAGAAACGTGACC 0.488000 12 58 0 0 1 0 0 ZNF566 84924 broad.mit.edu 37 19 36940789 36940789 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:36940789G>A ENST00000454319.1 - 5 484 c.350C>T c.(349-351)tCc>tTc p.S117F ZNF566_ENST00000434377.2_Missense_Mutation_p.S116F|ZNF566_ENST00000424129.2_Missense_Mutation_p.S116F|ZNF566_ENST00000493391.1_Missense_Mutation_p.S12F|ZNF566_ENST00000392170.2_Missense_Mutation_p.S117F NM_001145343.1|NM_001145344.1|NM_001145345.1 NP_001138815.1|NP_001138816.1|NP_001138817.1 Q969W8 ZN566_HUMAN zinc finger protein 566 116 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Esophageal squamous(110;0.162) TCTGAAACTGGAGCACTGAAA 0.378000 72 108 0 0 1 0 0 ZBTB5 9925 broad.mit.edu 37 9 37441286 37441286 + Missense_Mutation SNP A A C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:37441286A>C ENST00000307750.4 - 2 1451 c.1263T>G c.(1261-1263)ttT>ttG p.F421L NM_014872.2 NP_055687.1 O15062 ZBTB5_HUMAN zinc finger and BTB domain containing 5 421 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1) 8 GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226) GATTTGCAGTAAAGTTATTTC 0.413000 19 53 0 0 1 0 0 PGAM4 441531 broad.mit.edu 37 X 77224590 77224590 + Silent SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chrX:77224590C>G ENST00000458128.1 - 1 545 c.546G>C c.(544-546)ctG>ctC p.L182L ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000343533.5_Intron NM_001029891.2 NP_001025062.1 Q8N0Y7 PGAM4_HUMAN phosphoglycerate mutase family member 4 182 glycolysis 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity endometrium(2)|lung(4) 6 GGGCTGCAATCAGTACACGTT 0.527000 52 27 0 0 1 0 0 TRIM4 89122 broad.mit.edu 37 7 99490261 99490261 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr7:99490261G>A ENST00000355947.2 - 7 1157 c.1028C>T c.(1027-1029)tCa>tTa p.S343L TRIM4_ENST00000349062.2_Missense_Mutation_p.S317L NM_033017.3 NP_148977.2 Q9C037 TRIM4_HUMAN tripartite motif containing 4 343 B30.2/SPRY. protein trimerization cytoplasm|plasma membrane zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1) 17 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Ovarian(593;0.238) GTTCCATGCTGAAGAAAACAC 0.458000 55 60 0 0 1 0 0 HSD11B2 3291 broad.mit.edu 37 16 67470217 67470217 + Missense_Mutation SNP G G T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:67470217G>T ENST00000326152.5 + 4 862 c.730G>T c.(730-732)Gac>Tac p.D244Y NM_000196.3 NP_000187.3 P80365 DHI2_HUMAN hydroxysteroid (11-beta) dehydrogenase 2 244 D -> N (in AME; associated with R-250). glucocorticoid biosynthetic process endoplasmic reticulum|microsome breast(1)|endometrium(1)|liver(2)|lung(3)|upper_aerodigestive_tract(1) 8 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891) NADH(DB00157) GCTACTCATGGACACATTCAG 0.607000 78 126 1.72036e-36 1.79845e-36 1 1 0 TNPO2 30000 broad.mit.edu 37 19 12825888 12825888 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:12825888G>A ENST00000425528.1 - 9 1101 c.744C>T c.(742-744)ctC>ctT p.L248L TNPO2_ENST00000589956.1_Intron|TNPO2_ENST00000356861.5_Silent_p.L248L|TNPO2_ENST00000588216.1_Silent_p.L248L|TNPO2_ENST00000450764.2_Silent_p.L248L|TNPO2_ENST00000592287.1_Silent_p.L248L|TNPO2_ENST00000441499.1_Silent_p.L248L O14787 TNPO2_HUMAN transportin 2 248 intracellular protein transport cytoplasm|nucleus nuclear localization sequence binding|protein binding|protein transporter activity autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 TGTGGGGGATGAGCCTGTCAA 0.642000 32 36 0 0 1 0 0 MRPL47 57129 broad.mit.edu 37 3 179306756 179306756 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:179306756G>A ENST00000476781.1 - 7 686 c.657C>T c.(655-657)atC>atT p.I219I MRPL47_ENST00000259038.2_Silent_p.I199I|MRPL47_ENST00000392659.2_Silent_p.I109I NM_020409.2 NP_065142.2 Q9HD33 RM47_HUMAN mitochondrial ribosomal protein L47 219 translation mitochondrial ribosome structural constituent of ribosome breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1) 11 all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18) TCCGTGCTTTGATGCGGGCTC 0.333000 16 39 0 0 1 0 0 FAM47B 170062 broad.mit.edu 37 X 34961582 34961582 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chrX:34961582C>T ENST00000329357.5 + 1 670 c.634C>T c.(634-636)Cgc>Tgc p.R212C NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 212 Pro-rich. breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 GTCCAGTCGCCGCCCAGAGCC 0.652000 46 24 0 0 1 0 0 KDM8 79831 broad.mit.edu 37 16 27221637 27221637 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:27221637C>T ENST00000286096.4 + 2 366 c.193C>T c.(193-195)Ctg>Ttg p.L65L KDM8_ENST00000380948.2_Silent_p.L65L|KDM8_ENST00000441782.2_Silent_p.L103L|KDM8_ENST00000568965.1_Silent_p.L65L NM_024773.2 NP_079049.2 Q8N371 KDM8_HUMAN lysine (K)-specific demethylase 8 65 G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen GGACGAGTGTCTGCAGAGCAG 0.597000 16 57 0 0 1 0 0 CCDC103 388389 broad.mit.edu 37 17 42979948 42979948 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:42979948G>A ENST00000417826.2 + 4 587 c.492G>A c.(490-492)ctG>ctA p.L164L FAM187A_ENST00000412523.2_Intron|CCDC103_ENST00000410006.2_Silent_p.L164L|FAM187A_ENST00000331733.4_5'UTR NM_001258399.1|NM_213607.2 NP_001245328.1|NP_998772.1 Q8IW40 CC103_HUMAN coiled-coil domain containing 103 164 endometrium(1)|kidney(1)|large_intestine(3)|prostate(1)|skin(1) 7 Prostate(33;0.109) CAGCGGTGCTGGGGATCCTAT 0.627000 53 87 0 0 1 0 0 TAS2R20 259295 broad.mit.edu 37 12 11150347 11150347 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr12:11150347G>A ENST00000538986.1 - 1 127 c.128C>T c.(127-129)tCa>tTa p.S43L TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron NM_176889.2 NP_795370.2 P59543 T2R20_HUMAN taste receptor, type 2, member 20 43 sensory perception of taste integral to membrane G-protein coupled receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 TTGATCAGCTGAGGAGATCTT 0.383000 24 52 0 0 1 0 0 TOR1AIP2 163590 broad.mit.edu 37 1 179820259 179820259 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:179820259G>C ENST00000367612.3 - 4 661 c.274C>G c.(274-276)Cag>Gag p.Q92E TOR1AIP2_ENST00000609928.1_Missense_Mutation_p.Q92E NM_145034.4 NP_659471.1 Q8NFQ8 TOIP2_HUMAN torsin A interacting protein 2 92 endoplasmic reticulum membrane|integral to membrane protein binding cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2) 18 AGAAAACTCTGCTTGTTCTCA 0.448000 13 36 0 0 1 0 0 WDR20 91833 broad.mit.edu 37 14 102606455 102606455 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr14:102606455C>T ENST00000322340.5 + 1 244 c.195C>T c.(193-195)ctC>ctT p.L65L WDR20_ENST00000454394.2_Silent_p.L65L|WDR20_ENST00000558567.1_Silent_p.L65L|WDR20_ENST00000299135.6_Silent_p.L65L|WDR20_ENST00000557186.1_3'UTR|WDR20_ENST00000424963.2_5'UTR|WDR20_ENST00000556511.2_Silent_p.L65L|WDR20_ENST00000556807.1_Silent_p.L65L|WDR20_ENST00000335263.5_Silent_p.L65L|WDR20_ENST00000499851.2_5'UTR|WDR20_ENST00000342702.3_Silent_p.L65L NM_001242415.1 NP_001229344.1 Q8TBZ3 WDR20_HUMAN WD repeat domain 20 65 p.L65L(1) breast(1)|large_intestine(2)|lung(4)|prostate(1) 8 GCGACCGCCTCTGCTTCAATG 0.637000 22 44 0 0 1 0 0 SNAPC2 6618 broad.mit.edu 37 19 7987343 7987343 + Silent SNP C C A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:7987343C>A ENST00000221573.6 + 5 750 c.699C>A c.(697-699)gtC>gtA p.V233V SNAPC2_ENST00000597584.1_5'UTR NM_003083.3 NP_003074.1 Q13487 SNPC2_HUMAN small nuclear RNA activating complex, polypeptide 2, 45kDa 233 snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleoplasm sequence-specific DNA binding transcription factor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1) 6 CCGCTGTGGTCCTCGACCTGC 0.632000 33 88 8.4185e-14 8.68614e-14 1 1 0 CDC42BPB 9578 broad.mit.edu 37 14 103406202 103406202 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr14:103406202G>A ENST00000361246.2 - 33 4962 c.4674C>T c.(4672-4674)ttC>ttT p.F1558F NM_006035.3 NP_006026.3 Q9Y5S2 MRCKB_HUMAN CDC42 binding protein kinase beta (DMPK-like) 1558 actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 49 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) CTGGGACCTTGAAGACGAACC 0.632000 101 206 0 0 1 0 0 IQGAP1 8826 broad.mit.edu 37 15 90997678 90997678 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr15:90997678G>A ENST00000268182.5 + 14 1630 c.1506G>A c.(1504-1506)atG>atA p.M502I IQGAP1_ENST00000560738.1_Intron NM_003870.3 NP_003861.1 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 502 energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) ATGAGTTGATGAAACTGAAGG 0.438000 23 60 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21407314 21407314 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr18:21407314C>G ENST00000313654.9 + 23 2947 c.2706C>G c.(2704-2706)ttC>ttG p.F902L LAMA3_ENST00000399516.3_Missense_Mutation_p.F902L NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 902 Domain IV 1 (domain IV B). cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGACCAGATTCCCCTGTACCC 0.507000 7 158 0 0 1 0 0 METTL2A 339175 broad.mit.edu 37 17 60503990 60503990 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:60503990C>T ENST00000311506.5 + 3 569 c.533C>T c.(532-534)tCc>tTc p.S178F NM_181725.3 NP_859076.3 Q96IZ6 MTL2A_HUMAN methyltransferase like 2A 178 methyltransferase activity breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2) 6 BRCA - Breast invasive adenocarcinoma(2;1.08e-10) TTTCCTGGATCCTCAGCCACC 0.418000 9 14 0 0 1 0 0 PLXNB2 23654 broad.mit.edu 37 22 50727979 50727979 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr22:50727979G>A ENST00000449103.1 - 3 1175 c.1035C>T c.(1033-1035)ttC>ttT p.F345F PLXNB2_ENST00000359337.4_Silent_p.F345F O15031 PLXB2_HUMAN plexin B2 345 Sema. regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 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) TATCGCCGTGGAAGGGCTTGT 0.657000 12 25 0 0 1 0 0 C10orf68 79741 broad.mit.edu 37 10 33165320 33165320 + Nonstop_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr10:33165320G>C ENST00000375030.2 + 23 2381 c.1763G>C c.(1762-1764)tGa>tCa p.*588S C10orf68_ENST00000375025.4_Nonstop_Mutation_p.*693S|C10orf68_ENST00000375028.3_Nonstop_Mutation_p.*633S Q9H943 CJ068_HUMAN chromosome 10 open reading frame 68 0 breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4) 29 CCATACTTTTGAGAATGAAGG 0.328000 14 25 0 0 1 0 0 SLC44A2 57153 broad.mit.edu 37 19 10742373 10742373 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:10742373G>A ENST00000586078.1 + 8 683 c.574G>A c.(574-576)Gag>Aag p.E192K SLC44A2_ENST00000335757.5_Missense_Mutation_p.E192K|SLC44A2_ENST00000407327.4_Missense_Mutation_p.E190K NM_020428.3 NP_065161.3 Q8IWA5 CTL2_HUMAN solute carrier family 44 (choline transporter), member 2 192 positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane|plasma membrane choline transmembrane transporter activity|signal transducer activity NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Epithelial(33;8.7e-06)|all cancers(31;2.77e-05) Choline(DB00122) GACGACCTATGAGGATGGGCA 0.602000 17 42 0 0 1 0 0 FAM83B 222584 broad.mit.edu 37 6 54806295 54806295 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:54806295C>T ENST00000306858.7 + 5 2642 c.2526C>T c.(2524-2526)atC>atT p.I842I NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 842 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) AAGGCAGCATCCACAAGAGTA 0.398000 14 44 0 0 1 0 0 DUSP14 11072 broad.mit.edu 37 17 35872428 35872428 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:35872428G>A ENST00000487847.1 + 2 1032 c.54G>A c.(52-54)atG>atA p.M18I DUSP14_ENST00000394386.1_Missense_Mutation_p.M18I|DUSP14_ENST00000394389.4_Missense_Mutation_p.M18I O95147 DUS14_HUMAN dual specificity phosphatase 14 18 MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1) 9 Breast(25;0.00637)|Ovarian(249;0.15) CCCCTCGGATGATTTCCGAGG 0.577000 14 30 0 0 1 0 0 ZPBP2 124626 broad.mit.edu 37 17 38027740 38027740 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:38027740G>A ENST00000377940.3 + 3 341 c.202G>A c.(202-204)Gaa>Aaa p.E68K ZPBP2_ENST00000348931.4_Missense_Mutation_p.E90K|ZPBP2_ENST00000584588.1_Missense_Mutation_p.E90K NM_198844.2 NP_942141.2 Q6X784 ZPBP2_HUMAN zona pellucida binding protein 2 90 P -> A (in dbSNP:rs35591738). binding of sperm to zona pellucida extracellular region kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 15 Colorectal(19;0.000442) Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171) AAATATAACTGAAACTGGACA 0.294000 33 76 0 0 1 0 0 AFF3 3899 broad.mit.edu 37 2 100182052 100182052 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:100182052C>T ENST00000409236.2 - 18 3128 c.3016G>A c.(3016-3018)Gaa>Aaa p.E1006K AFF3_ENST00000409579.1_Missense_Mutation_p.E1031K|AFF3_ENST00000356421.2_Missense_Mutation_p.E1031K|AFF3_ENST00000317233.4_Missense_Mutation_p.E1006K P51826 AFF3_HUMAN AF4/FMR2 family, member 3 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 AATGCTGCTTCAGCATAGTTC 0.383000 17 79 0 0 1 0 0 CENPB 1059 broad.mit.edu 37 20 3766646 3766646 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr20:3766646G>A ENST00000379751.4 - 1 691 c.485C>T c.(484-486)tCg>tTg p.S162L NM_001810.5 NP_001801.1 P07199 CENPB_HUMAN centromere protein B, 80kDa 162 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|satellite DNA binding kidney(1)|large_intestine(2)|lung(4)|skin(1) 8 ACTGCCCTCCGAGGGCACCGC 0.781000 6 1 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114254328 114254328 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr4:114254328G>C ENST00000357077.4 + 29 3396 c.3343G>C c.(3343-3345)Gat>Cat p.D1115H ANK2_ENST00000264366.6_Missense_Mutation_p.D1082H|ANK2_ENST00000394537.3_Missense_Mutation_p.D1115H|ANK2_ENST00000509550.1_Missense_Mutation_p.D291H|ANK2_ENST00000506722.1_Missense_Mutation_p.D1106H NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 1082 Interaction with SPTBN1. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CTACACTGAAGATGAATTGAA 0.428000 12 74 0 0 1 0 0 EVI2B 2124 broad.mit.edu 37 17 29632365 29632365 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:29632365G>C ENST00000330927.4 - 2 417 c.263C>G c.(262-264)tCt>tGt p.S88C NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|EVI2B_ENST00000577894.1_Missense_Mutation_p.S88C|EVI2B_ENST00000544462.1_Missense_Mutation_p.S103C|CTD-2370N5.3_ENST00000578584.1_3'UTR NM_006495.3 NP_006486.3 P34910 EVI2B_HUMAN ecotropic viral integration site 2B 88 cytoplasm|integral to plasma membrane p.0?(8)|p.?(3) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1) 12 all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094) UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184) TTTTTCAGAAGAGGTATAGAC 0.478000 56 156 0 0 1 0 0 ZNF33B 7582 broad.mit.edu 37 10 43088106 43088106 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr10:43088106G>A ENST00000359467.3 - 5 2406 c.2292C>T c.(2290-2292)ctC>ctT p.L764L ZNF33B_ENST00000486187.1_RNA NM_006955.1 NP_008886.1 Q06732 ZN33B_HUMAN zinc finger protein 33B 764 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1) 29 GATGTACAATGAGATTTGACT 0.393000 51 112 0 0 1 0 0 RIN2 54453 broad.mit.edu 37 20 19956181 19956181 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr20:19956181C>T ENST00000255006.6 + 8 1808 c.1659C>T c.(1657-1659)ttC>ttT p.F553F RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Intron NM_001242581.1|NM_018993.3 NP_001229510.1|NP_061866.1 Q8WYP3 RIN2_HUMAN Ras and Rab interactor 2 504 endocytosis|small GTPase mediated signal transduction cytoplasm GTPase activator activity|Rab guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 27 GCGGGGTGTTCAGCTCCTTCA 0.587000 86 131 0 0 1 0 0 STYX 6815 broad.mit.edu 37 14 53224052 53224052 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr14:53224052G>C ENST00000354586.4 + 6 612 c.319G>C c.(319-321)Gat>Cat p.D107H STYX_ENST00000442123.2_Missense_Mutation_p.D107H|STYX_ENST00000556861.1_Intron NM_145251.3 NP_660294.1 Q8WUJ0 STYX_HUMAN serine/threonine/tyrosine interacting protein 107 Tyrosine-protein phosphatase. protein dephosphorylation|spermatogenesis cytoplasm protein tyrosine/serine/threonine phosphatase activity endometrium(1)|kidney(1)|large_intestine(2)|lung(1) 5 Breast(41;0.176) GGAATTTATTGATGGGAGCTT 0.264000 11 20 0 0 1 0 0 ATP1A2 477 broad.mit.edu 37 1 160104336 160104336 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:160104336C>T ENST00000361216.3 + 14 1979 c.1890C>T c.(1888-1890)atC>atT p.I630I ATP1A2_ENST00000392233.3_Silent_p.I630I NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 630 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) GCGTGGGCATCATATCAGAGG 0.542000 22 58 0 0 1 0 0 USP22 23326 broad.mit.edu 37 17 20919102 20919102 + Silent SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:20919102G>C ENST00000261497.4 - 6 1004 c.801C>G c.(799-801)ctC>ctG p.L267L USP22_ENST00000537526.2_Silent_p.L255L|USP22_ENST00000455117.2_Intron NM_015276.1 NP_056091.1 Q9UPT9 UBP22_HUMAN ubiquitin specific peptidase 22 267 cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process SAGA complex ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1) 15 GGGCCGCGATGAGGAACTCGT 0.632000 14 51 0 0 1 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72026081 72026081 + Nonsense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr12:72026081G>A ENST00000378743.3 - 15 3389 c.3031C>T c.(3031-3033)Caa>Taa p.Q1011* NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 1011 RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 AGTGAGGGTTGAGGTAAAGAA 0.388000 48 107 0 0 1 0 0 AAR2 25980 broad.mit.edu 37 20 34828416 34828416 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr20:34828416C>T ENST00000373932.3 + 2 972 c.626C>T c.(625-627)tCa>tTa p.S209L AAR2_ENST00000320849.4_Missense_Mutation_p.S209L|AAR2_ENST00000397286.3_Missense_Mutation_p.S209L NM_015511.3 NP_056326.2 AAR2 splicing factor homolog (S. cerevisiae) ATCCGCTTCTCAGAGCTGCCC 0.587000 39 122 0 0 1 0 0 HOXC6 3223 broad.mit.edu 37 12 54422347 54422347 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr12:54422347C>T ENST00000243108.4 + 1 206 c.42C>T c.(40-42)ctC>ctT p.L14L HOXC6_ENST00000394331.3_Intron|HOXC4_ENST00000303406.4_Intron|RP11-834C11.12_ENST00000513209.1_Intron|RP11-834C11.14_ENST00000512206.1_RNA NM_004503.3 NP_004494.1 P09630 HXC6_HUMAN homeobox C6 14 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 CCTGCCACCTCGCCGGGGGCC 0.522000 29 50 0 0 1 0 0 POP7 10248 broad.mit.edu 37 7 100304474 100304474 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr7:100304474C>T ENST00000303151.4 + 2 283 c.21C>T c.(19-21)ccC>ccT p.P7P NM_005837.2 NP_005828.2 O75817 POP7_HUMAN processing of precursor 7, ribonuclease P/MRP subunit (S. cerevisiae) 7 tRNA processing nucleolar ribonuclease P complex protein binding|ribonuclease P activity endometrium(2)|kidney(1)|ovary(1) 4 Lung NSC(181;0.041)|all_lung(186;0.0581) ACCGAGAGCCCCGCGGTGCTG 0.582000 18 136 0 0 1 0 0 TTC37 9652 broad.mit.edu 37 5 94834293 94834293 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr5:94834293G>C ENST00000358746.2 - 33 3642 c.3344C>G c.(3343-3345)tCt>tGt p.S1115C NM_014639.3 NP_055454.1 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 1115 binding breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 47 CTTTAAGATAGAGCTGTAAAG 0.433000 12 21 0 0 1 0 0 SNW1 22938 broad.mit.edu 37 14 78184411 78184411 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr14:78184411C>T ENST00000555761.1 - 13 1739 c.1711G>A c.(1711-1713)Gaa>Aaa p.E571K SNW1_ENST00000261531.7_3'UTR|SLIRP_ENST00000557431.1_Intron|SLIRP_ENST00000557623.1_Intron|SNW1_ENST00000554775.1_3'UTR Q13573 SNW1_HUMAN SNW domain containing 1 0 negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter catalytic step 2 spliceosome|nucleoplasm Notch binding NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0291) AGAGTTCATTCACTTTGGAGA 0.483000 44 98 0 0 1 0 0 SH2D3C 10044 broad.mit.edu 37 9 130536459 130536459 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:130536459C>T ENST00000314830.8 - 2 438 c.325G>A c.(325-327)Gga>Aga p.G109R NM_170600.2 NP_733745.1 Q8N5H7 SH2D3_HUMAN SH2 domain containing 3C 109 JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GGTACACCTCCGGGTACCAAG 0.637000 13 24 0 0 1 0 0 MTIF2 4528 broad.mit.edu 37 2 55473543 55473543 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:55473543C>T ENST00000394600.3 - 11 1772 c.1036G>A c.(1036-1038)Gaa>Aaa p.E346K MTIF2_ENST00000263629.4_Missense_Mutation_p.E346K|MTIF2_ENST00000403721.1_Missense_Mutation_p.E346K NM_001005369.1 NP_001005369.1 P46199 IF2M_HUMAN mitochondrial translational initiation factor 2 346 regulation of translational initiation mitochondrion GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 24 GCTTTCAATTCTAACATTTCT 0.368000 46 80 0 0 1 0 0 FCRL3 115352 broad.mit.edu 37 1 157665191 157665191 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:157665191C>T ENST00000368184.3 - 8 1630 c.1339G>A c.(1339-1341)Gga>Aga p.G447R FCRL3_ENST00000368186.5_Missense_Mutation_p.G447R|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor-like 3 447 Ig-like C2-type 5. integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) GAGTAGTTTCCAGAATGTTCT 0.532000 39 146 0 0 1 0 0 INHBE 83729 broad.mit.edu 37 12 57850383 57850383 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr12:57850383G>A ENST00000266646.2 + 2 1021 c.805G>A c.(805-807)Gag>Aag p.E269K INHBE_ENST00000551553.1_3'UTR NM_031479.3 NP_113667.1 P58166 INHBE_HUMAN inhibin, beta E 269 growth extracellular region growth factor activity|hormone activity breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 15 ACTGCAGCCCGAGGGGTACCA 0.612000 OREG0021944 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 51 79 0 0 1 0 0 SETD2 29072 broad.mit.edu 37 3 47098519 47098519 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:47098519G>A ENST00000409792.3 - 15 6797 c.6755C>T c.(6754-6756)tCc>tTc p.S2252F NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 2252 Low charge region. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) AGCAACGCTGGAGTCTTGGTG 0.557000 """N, F, S, Mis""" clear cell renal carcinoma 17 47 0 0 1 0 0 ZYG11B 79699 broad.mit.edu 37 1 53236939 53236939 + Silent SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:53236939C>G ENST00000294353.6 + 3 589 c.444C>G c.(442-444)ctC>ctG p.L148L ZYG11B_ENST00000443756.2_Silent_p.L148L|ZYG11B_ENST00000545132.1_Silent_p.L148L NM_024646.2 NP_078922.1 Q9C0D3 ZY11B_HUMAN zyg-11 family member B, cell cycle regulator 148 protein binding breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 30 CATTAACTCTCTCCCTCGAGG 0.473000 13 53 0 0 1 0 0 NLRP14 338323 broad.mit.edu 37 11 7064321 7064321 + Nonsense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:7064321C>G ENST00000299481.4 + 4 1410 c.1064C>G c.(1063-1065)tCa>tGa p.S355* NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 355 NACHT. cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) GTATTCAGTTCACTAAAAAGC 0.443000 28 100 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132476758 132476758 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr12:132476758C>G ENST00000333577.4 + 12 2937 c.2828C>G c.(2827-2829)tCt>tGt p.S943C EP400_ENST00000332482.4_Missense_Mutation_p.S870C|EP400_ENST00000330386.6_Missense_Mutation_p.S907C|EP400_ENST00000389561.2_Missense_Mutation_p.S907C|EP400_ENST00000389562.2_Missense_Mutation_p.S906C Q96L91 EP400_HUMAN E1A binding protein p400 943 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) GCTAGCATATCTTTGACTGAT 0.443000 87 117 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7576855 7576855 + Nonsense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:7576855G>A ENST00000420246.2 - 9 1123 c.991C>T c.(991-993)Cag>Tag p.Q331* TP53_ENST00000269305.4_Nonsense_Mutation_p.Q331*|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q331*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q331*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q331* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 331 Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization. Q -> H (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Q331*(23)|p.0?(8)|p.Q331fs*6(2)|p.?(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CTTAGTACCTGAAGGGTGAAA 0.448000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 32 20 0 0 1 0 0 MIER3 166968 broad.mit.edu 37 5 56219220 56219220 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr5:56219220G>A ENST00000381226.3 - 13 1418 c.1403C>T c.(1402-1404)tCg>tTg p.S468L MIER3_ENST00000381199.3_Missense_Mutation_p.S463L|SETD9_ENST00000541720.1_Intron|MIER3_ENST00000409421.1_Missense_Mutation_p.S400L|MIER3_ENST00000381213.3_Missense_Mutation_p.S462L Q7Z3K6 MIER3_HUMAN mesoderm induction early response 1, family member 3 463 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1) 19 Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;1.24e-37) GTTTAGCTCCGAGTGATAAAA 0.408000 26 53 0 0 1 0 0 PHF14 9678 broad.mit.edu 37 7 11091393 11091393 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr7:11091393C>T ENST00000403050.3 + 14 2919 c.2467C>T c.(2467-2469)Ccg>Tcg p.P823S PHF14_ENST00000445996.2_Missense_Mutation_p.P538S NM_014660.3 NP_055475.2 O94880 PHF14_HUMAN PHD finger protein 14 823 zinc ion binding NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 35 UCEC - Uterine corpus endometrioid carcinoma (126;0.205) CAAGAAGATTCCGATAAGAAA 0.393000 29 31 0 0 1 0 0 RNF152 220441 broad.mit.edu 37 18 59483505 59483505 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr18:59483505G>A ENST00000312828.3 - 2 1291 c.192C>T c.(190-192)ttC>ttT p.F64F NM_173557.2 NP_775828.1 Q8N8N0 RN152_HUMAN ring finger protein 152 64 apoptosis|protein K48-linked ubiquitination integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1) 17 Colorectal(73;0.186) GCGACACGGAGAAGCCGGGAG 0.622000 26 45 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141110549 141110549 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:141110549C>G ENST00000389484.3 - 76 12594 c.11623G>C c.(11623-11625)Gaa>Caa p.E3875Q NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3875 EGF-like 9. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.E3875*(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTATTTCTTTCTTGAAAATTC 0.308000 TSP Lung(27;0.18) 40 32 0 0 1 0 0 GNAT2 2780 broad.mit.edu 37 1 110146643 110146643 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:110146643G>A ENST00000351050.3 - 7 990 c.804C>T c.(802-804)ctC>ctT p.L268L NM_005272.3 NP_005263.1 P19087 GNAT2_HUMAN guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 268 detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane G-protein beta/gamma-subunit complex binding|G-protein coupled photoreceptor activity|G-protein-coupled receptor binding|GTP binding|GTPase activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 14 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227) CCTTCTTGTTGAGAAAGAGGA 0.388000 28 29 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124341674 124341674 + Missense_Mutation SNP C C A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr12:124341674C>A ENST00000409039.3 + 36 6181 c.6156C>A c.(6154-6156)ttC>ttA p.F2052L NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2052 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TTCCTCTTTTCCTTGGTTTGA 0.517000 16 49 4.7546e-09 4.85663e-09 1 1 0 SEC24C 9632 broad.mit.edu 37 10 75529189 75529189 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr10:75529189G>A ENST00000339365.2 + 19 2671 c.2509G>A c.(2509-2511)Gat>Aat p.D837N SEC24C_ENST00000411652.2_Missense_Mutation_p.D718N|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000345254.4_Missense_Mutation_p.D837N|SEC24C_ENST00000535742.1_Missense_Mutation_p.D85N|SEC24C_ENST00000540668.1_Missense_Mutation_p.D85N NM_004922.3 NP_004913.2 P53992 SC24C_HUMAN SEC24 family member C 837 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Prostate(51;0.0112) CCAGCTGGCTGATCTATATCG 0.562000 10 28 0 0 1 0 0 ACCS 84680 broad.mit.edu 37 11 44099468 44099468 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:44099468C>G ENST00000263776.8 + 8 1162 c.728C>G c.(727-729)tCt>tGt p.S243C NM_001127219.1|NM_032592.3 NP_001120691.1|NP_115981.1 Q96QU6 1A1L1_HUMAN 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional) 243 1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1) 35 GAAGCTCACTCTGAGGTCTGG 0.582000 10 19 0 0 1 0 0 TMPRSS7 344805 broad.mit.edu 37 3 111782458 111782458 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:111782458G>A ENST00000452346.2 + 12 1537 c.1534G>A c.(1534-1536)Gaa>Aaa p.E512K TMPRSS7_ENST00000419127.1_Missense_Mutation_p.E386K Q7RTY8 TMPS7_HUMAN transmembrane protease, serine 7 512 LDL-receptor class A 1. proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 CTGCTTTGATGAAAGTGATGA 0.418000 6 205 0 0 1 0 0 OR10AG1 282770 broad.mit.edu 37 11 55735850 55735850 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:55735850C>T ENST00000312345.2 - 1 140 c.90G>A c.(88-90)ctG>ctA p.L30L NM_001005491.1 NP_001005491.1 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, member 1 30 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 40 Esophageal squamous(21;0.0137) CATTGCACATCAGGATCATCA 0.333000 32 46 0 0 1 0 0 FURIN 5045 broad.mit.edu 37 15 91424883 91424883 + Silent SNP C C A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr15:91424883C>A ENST00000268171.3 + 16 2439 c.2160C>A c.(2158-2160)ctC>ctA p.L720L NM_002569.2 NP_002560.1 P09958 FURIN_HUMAN furin (paired basic amino acid cleaving enzyme) 720 cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity p.V717fs*18(1) breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 36 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) TGGCCGGCCTCAGCTGCGCCT 0.667000 53 84 2.27781e-18 2.36561e-18 1 1 0 PLCD4 84812 broad.mit.edu 37 2 219498833 219498833 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:219498833G>A ENST00000450993.2 + 12 1951 c.1612G>A c.(1612-1614)Gag>Aag p.E538K PLCD4_ENST00000417849.1_Missense_Mutation_p.E538K|PLCD4_ENST00000432688.1_Missense_Mutation_p.E570K NM_032726.3 NP_116115.1 Q9BRC7 PLCD4_HUMAN phospholipase C, delta 4 538 PI-PLC Y-box. intracellular signal transduction|lipid catabolic process endoplasmic reticulum|membrane|nucleus calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3) 23 Renal(207;0.0915) Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) TACAGGCAATGAGTTTGTGCA 0.527000 7 4 0 0 1 0 0 MESDC1 59274 broad.mit.edu 37 15 81295006 81295006 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr15:81295006C>T ENST00000267984.2 + 1 1712 c.394C>T c.(394-396)Ctg>Ttg p.L132L NM_022566.2 NP_072088.1 Q9H1K6 MESD1_HUMAN mesoderm development candidate 1 132 endometrium(1)|lung(2) 3 CGCGGCCTATCTGGCCGCTGT 0.746000 9 5 0 0 1 0 0 PIK3C2A 5286 broad.mit.edu 37 11 17143784 17143784 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:17143784C>T ENST00000265970.7 - 14 2607 c.2608G>A c.(2608-2610)Gat>Aat p.D870N PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.D490N NM_002645.2 NP_002636.2 O00443 P3C2A_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha 870 cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Phosphatidylserine(DB00144) CCTTTTATATCATTCTCTAGT 0.323000 19 44 0 0 1 0 0 RHOT1 55288 broad.mit.edu 37 17 30533948 30533948 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:30533948C>T ENST00000358365.3 + 17 1663 c.1436C>T c.(1435-1437)tCg>tTg p.S479L RHOT1_ENST00000581094.1_Missense_Mutation_p.S479L|RHOT1_ENST00000583994.1_Missense_Mutation_p.S352L|RHOT1_ENST00000545287.2_Missense_Mutation_p.S479L|RHOT1_ENST00000354266.3_Missense_Mutation_p.S458L|RHOT1_ENST00000333942.6_Missense_Mutation_p.S479L|RHOT1_ENST00000394692.2_Missense_Mutation_p.S479L NM_001033568.1 NP_001028740.1 Q8IXI2 MIRO1_HUMAN ras homolog family member T1 479 Miro 2. apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to mitochondrial outer membrane|plasma membrane calcium ion binding|GTP binding|GTPase activity|protein binding NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182) ATCTCAGAATCGGAATTTCTA 0.308000 28 77 0 0 1 0 0 SETD2 29072 broad.mit.edu 37 3 47142964 47142964 + Nonsense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:47142964G>A ENST00000409792.3 - 8 5041 c.4999C>T c.(4999-5001)Cag>Tag p.Q1667* NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 1667 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding p.Q1667*(1)|p.Q1164*(1) breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) CTCTGGAACTGATAGTCAAAC 0.373000 """N, F, S, Mis""" clear cell renal carcinoma 70 147 0 0 1 0 0 SLC4A2 6522 broad.mit.edu 37 7 150768673 150768673 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr7:150768673C>T ENST00000485713.1 + 14 3212 c.2172C>T c.(2170-2172)atC>atT p.I724I SLC4A2_ENST00000461735.1_Silent_p.I710I|SLC4A2_ENST00000413384.2_Silent_p.I724I|SLC4A2_ENST00000310317.5_Silent_p.I642I|SLC4A2_ENST00000392826.2_Silent_p.I715I NM_001199692.1 NP_001186621.1 P04920 B3A2_HUMAN solute carrier family 4 (anion exchanger), member 2 724 Membrane (anion exchange). bicarbonate transport integral to membrane|membrane fraction inorganic anion exchanger activity NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTCCTGCCATCACCTTTGGGG 0.637000 44 29 0 0 1 0 0 GPR107 57720 broad.mit.edu 37 9 132854600 132854600 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:132854600C>T ENST00000372406.1 + 9 1310 c.803C>T c.(802-804)tCa>tTa p.S268L GPR107_ENST00000347136.6_Missense_Mutation_p.S268L|GPR107_ENST00000372410.3_Missense_Mutation_p.S268L NM_001136557.1 NP_001130029.1 Q5VW38 GP107_HUMAN G protein-coupled receptor 107 268 integral to membrane endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 11 Ovarian(14;0.000531) TTATACATCTCAATGGCCTTT 0.388000 18 46 0 0 1 0 0 SUZ12 23512 broad.mit.edu 37 17 30302570 30302570 + Nonsense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:30302570C>T ENST00000322652.5 + 7 890 c.661C>T c.(661-663)Caa>Taa p.Q221* SUZ12_ENST00000580398.1_Nonsense_Mutation_p.Q198* NM_015355.2 NP_056170.2 Q15022 SUZ12_HUMAN SUZ12 polycomb repressive complex 2 subunit 221 negative regulation of cell differentiation|transcription, DNA-dependent ESC/E(Z) complex histone methyltransferase activity|methylated histone residue binding|zinc ion binding SSH2/SUZ12(2)|JAZF1/SUZ12(133) breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1) 21 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231) TGACCTCAATCAAACAAAACC 0.383000 T JAZF1 endometrial stromal tumours 25 122 0 0 1 0 0 CAPN10 11132 broad.mit.edu 37 2 241530381 241530381 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:241530381G>C ENST00000391984.2 + 3 619 c.423G>C c.(421-423)caG>caC p.Q141H CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000391982.2_Missense_Mutation_p.Q141H|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000404753.3_Missense_Mutation_p.Q141H|CAPN10_ENST00000354082.4_Missense_Mutation_p.Q141H NM_023083.3 NP_075571 Q9HC96 CAN10_HUMAN calpain 10 141 Calpain catalytic. actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis cytosol|plasma membrane calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1) 27 all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032) CCCGCTGCCAGAGGGAGGATG 0.622000 22 22 0 0 1 0 0 MIDN 90007 broad.mit.edu 37 19 1251879 1251879 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:1251879C>T ENST00000300952.2 + 4 878 c.363C>T c.(361-363)ctC>ctT p.L121L MIDN_ENST00000591446.2_Silent_p.L121L NM_177401.4 NP_796375.3 Q504T8 MIDN_HUMAN midnolin 121 nucleolus NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) 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) TGCAAGCTCTCGAGAGTCTCA 0.637000 6 23 0 0 1 0 0 ZNF518B 85460 broad.mit.edu 37 4 10444949 10444949 + Nonsense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr4:10444949G>A ENST00000326756.3 - 3 3442 c.3004C>T c.(3004-3006)Caa>Taa p.Q1002* NM_053042.2 NP_444270.2 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 1002 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 42 CTTTTAATTTGACTGGCTTCT 0.413000 11 44 0 0 1 0 0 SLC12A4 6560 broad.mit.edu 37 16 67980504 67980504 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:67980504C>T ENST00000422611.2 - 17 2319 c.2280G>A c.(2278-2280)gtG>gtA p.V760V SLC12A4_ENST00000576616.1_Silent_p.V758V|SLC12A4_ENST00000537830.2_Silent_p.V752V|SLC12A4_ENST00000316341.3_Silent_p.V758V|SLC12A4_ENST00000572037.1_Silent_p.V710V|SLC12A4_ENST00000541864.2_Silent_p.V727V|SLC12A4_ENST00000338335.3_Intron NM_001145962.1 NP_001139434.1 Q9UP95 S12A4_HUMAN solute carrier family 12 (potassium/chloride transporter), member 4 758 cell volume homeostasis|potassium ion transport|sodium ion transport integral to plasma membrane|membrane fraction potassium:chloride symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3) 29 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) Bumetanide(DB00887)|Potassium Chloride(DB00761) AGAAGCCCTTCACCTTCTCAA 0.622000 11 75 0 0 1 0 0 RNF40 9810 broad.mit.edu 37 16 30783276 30783276 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:30783276C>T ENST00000324685.6 + 18 3144 c.2709C>T c.(2707-2709)ttC>ttT p.F903F RNF40_ENST00000567365.1_3'UTR|RNF40_ENST00000357890.5_Silent_p.F803F|RNF40_ENST00000402121.3_Silent_p.F595F|RNF40_ENST00000563683.1_Silent_p.F863F NM_001207033.1|NM_014771.3 NP_001193962.1|NP_055586 O75150 BRE1B_HUMAN ring finger protein 40, E3 ubiquitin protein ligase 903 histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process nucleus|synaptosome|ubiquitin ligase complex protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2) 30 Colorectal(24;0.198) AAGAGAGCTTCAACCTCAAGA 0.652000 10 51 0 0 1 0 0 SSBP3 23648 broad.mit.edu 37 1 54692813 54692813 + Missense_Mutation SNP C C A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:54692813C>A ENST00000371320.3 - 18 1568 c.1158G>T c.(1156-1158)atG>atT p.M386I SSBP3_ENST00000326956.7_5'UTR|SSBP3_ENST00000357475.4_Missense_Mutation_p.M366I|SSBP3_ENST00000417664.2_Missense_Mutation_p.M276I|SSBP3_ENST00000371319.3_Missense_Mutation_p.M359I NM_145716.2 NP_663768.1 Q9BWW4 SSBP3_HUMAN single stranded DNA binding protein 3 386 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus single-stranded DNA binding central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 11 ATCACACACTCATCGTCATGC 0.567000 48 151 1.30916e-28 1.36658e-28 1 1 0 LHX2 9355 broad.mit.edu 37 9 126774727 126774727 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:126774727G>A ENST00000373615.4 + 1 839 c.100G>A c.(100-102)Gac>Aac p.D34N NM_004789.3 NP_004780.3 P50458 LHX2_HUMAN LIM homeobox 2 34 nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1) 10 CTCCGCCATCGACCGCGGCGA 0.701000 5 2 0 0 1 0 0 HPR 3250 broad.mit.edu 37 16 72107850 72107850 + Nonsense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:72107850C>G ENST00000540303.2 + 2 97 c.65C>G c.(64-66)tCa>tGa p.S22* HPR_ENST00000356967.5_Nonsense_Mutation_p.S22*|HPR_ENST00000228226.8_Nonsense_Mutation_p.S59*|HPR_ENST00000561690.1_Nonsense_Mutation_p.S22* NM_020995.3 NP_066275.3 P00739 HPTR_HUMAN haptoglobin-related protein 22 proteolysis spherical high-density lipoprotein particle hemoglobin binding|serine-type endopeptidase activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2) 20 Ovarian(137;0.125) GCACTGTACTCAGGCAATGAT 0.537000 15 80 0 0 1 0 0 NDUFA1 4694 broad.mit.edu 37 X 119005903 119005903 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chrX:119005903C>T ENST00000371437.4 + 1 454 c.29C>T c.(28-30)tCc>tTc p.S10F NM_004541.3 NP_004532.1 O15239 NDUA1_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa 10 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity endometrium(1)|kidney(1)|large_intestine(2)|stomach(1) 5 NADH(DB00157) CCCGGACTCTCCGTCATGGGC 0.592000 88 33 0 0 1 0 0 C1orf52 148423 broad.mit.edu 37 1 85724285 85724285 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:85724285C>T ENST00000471115.1 - 2 405 c.397G>A c.(397-399)Gag>Aag p.E133K C1orf52_ENST00000344356.5_Missense_Mutation_p.E133K|C1orf52_ENST00000294661.4_5'UTR NM_198077.3 NP_932343.1 Q8N6N3 CA052_HUMAN chromosome 1 open reading frame 52 133 endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1) 10 all cancers(265;0.0105)|Epithelial(280;0.0293) CCATTGTCCTCATATATGTTA 0.458000 67 88 0 0 1 0 0 CHRND 1144 broad.mit.edu 37 2 233394809 233394809 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:233394809C>T ENST00000536614.1 + 6 698 c.670C>T c.(670-672)Ctc>Ttc p.L224F CHRND_ENST00000258385.3_Silent_p.I260I|CHRND_ENST00000457943.2_Intron|CHRND_ENST00000543200.1_Silent_p.I245I Q07001 ACHD_HUMAN cholinergic receptor, nicotinic, delta (muscle) 0 muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1) 34 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;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) GCGTGCTCATCTCCTTCATGG 0.622000 17 86 0 0 1 0 0 TDRD7 23424 broad.mit.edu 37 9 100234723 100234723 + Silent SNP C C T rs144270321 TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:100234723C>T ENST00000355295.4 + 10 2185 c.1890C>T c.(1888-1890)atC>atT p.I630I TDRD7_ENST00000422139.2_Silent_p.I556I|TDRD7_ENST00000540902.1_5'UTR NM_014290.2 NP_055105.2 Q8NHU6 TDRD7_HUMAN tudor domain containing 7 630 lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis chromatoid body mRNA binding endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(62;0.158) ATATCAATATCAATGCCACCT 0.408000 38 65 0 0 1 0 0 BRWD1 54014 broad.mit.edu 37 21 40646305 40646305 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr21:40646305G>C ENST00000342449.3 - 13 1317 c.1239C>G c.(1237-1239)atC>atG p.I413M BRWD1_ENST00000333229.2_Missense_Mutation_p.I413M|BRWD1_ENST00000380800.3_Missense_Mutation_p.I413M NM_033656.3 NP_387505.1 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 413 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) CTTACCCTGAGATTCTGGTAG 0.433000 27 27 0 0 1 0 0 CCNG2 901 broad.mit.edu 37 4 78087038 78087038 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr4:78087038C>T ENST00000316355.5 + 8 1352 c.996C>T c.(994-996)ttC>ttT p.F332F CCNG2_ENST00000502280.1_Silent_p.F332F|CCNG2_ENST00000497512.1_Intron|CCNG2_ENST00000354403.5_Intron|CCNG2_ENST00000395640.1_Silent_p.F332F NM_004354.2 NP_004345.1 Q16589 CCNG2_HUMAN cyclin G2 332 cell cycle checkpoint|cell division|mitosis cytoplasm breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 10 CCTTCTTTTTCAACTTCAAAG 0.398000 9 28 0 0 1 0 0 LAIR2 3904 broad.mit.edu 37 19 55019130 55019130 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:55019130C>T ENST00000301202.2 + 3 217 c.95C>T c.(94-96)tCg>tTg p.S32L LAIR2_ENST00000351841.2_Missense_Mutation_p.S32L NM_002288.4 NP_002279.2 Q6ISS4 LAIR2_HUMAN leukocyte-associated immunoglobulin-like receptor 2 32 Ig-like C2-type. extracellular region receptor activity central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1) 18 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0967) CCCTCCATCTCGGCTGAGCCA 0.577000 81 237 0 0 1 0 0 FLNB 2317 broad.mit.edu 37 3 58134449 58134449 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:58134449C>T ENST00000357272.4 + 36 6126 c.5961C>T c.(5959-5961)aaC>aaT p.N1987N FLNB_ENST00000419752.2_Silent_p.N1807N|FLNB_ENST00000295956.4_Silent_p.N1987N|FLNB_ENST00000348383.5_Silent_p.N1987N|FLNB_ENST00000493452.1_Silent_p.N1794N|FLNB_ENST00000358537.3_Silent_p.N1963N|FLNB_ENST00000490882.1_Silent_p.N2018N|FLNB_ENST00000429972.2_Silent_p.N1976N O75369 FLNB_HUMAN filamin B, beta 1987 Interaction with the cytoplasmic tail of GP1BA. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) ATGTGGCCAACAGCCCCGTGT 0.577000 20 60 0 0 1 0 0 PANK2 80025 broad.mit.edu 37 20 3870272 3870272 + Silent SNP C C A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr20:3870272C>A ENST00000316562.4 + 1 531 c.525C>A c.(523-525)gtC>gtA p.V175V PANK2_ENST00000497424.1_Intron|PANK2_ENST00000610179.1_Silent_p.V52V NM_153638.2 NP_705902.2 Q9BZ23 PANK2_HUMAN pantothenate kinase 2 175 cell death|coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial intermembrane space|nucleus ATP binding|pantothenate kinase activity|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 TGCCCGCGGTCGGGGCCTCGG 0.756000 11 10 6.40141e-05 6.46479e-05 1 1 0 ZNF700 90592 broad.mit.edu 37 19 12060204 12060204 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:12060204C>T ENST00000482090.1 + 3 1729 c.1311C>T c.(1309-1311)ttC>ttT p.F437F ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron|ZNF700_ENST00000254321.5_Silent_p.F455F|ZNF763_ENST00000591944.1_Intron Q9H0M5 ZN700_HUMAN zinc finger protein 700 455 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.F455F(1) ZNF700/MAST1_ENST00000251472(2) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1) 33 GGAAAGCCTTCAGATCTACCT 0.488000 45 67 0 0 1 0 0 SNX14 57231 broad.mit.edu 37 6 86303407 86303407 + Missense_Mutation SNP C C A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:86303407C>A ENST00000314673.3 - 1 206 c.30G>T c.(28-30)caG>caT p.Q10H RP11-321N4.5_ENST00000503906.1_Intron|SNX14_ENST00000505648.1_Intron|SNX14_ENST00000369627.2_Missense_Mutation_p.Q10H|SNX14_ENST00000346348.3_Missense_Mutation_p.Q10H|SNX14_ENST00000513865.1_Missense_Mutation_p.Q10H NM_153816.3 NP_722523.1 Q9Y5W7 SNX14_HUMAN sorting nexin 14 10 cell communication|protein transport integral to membrane phosphatidylinositol binding|signal transducer activity NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1) 22 all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24) BRCA - Breast invasive adenocarcinoma(108;0.0423) GCTTCAGCTTCTGCCCCATCG 0.667000 11 19 1.61879e-10 1.65827e-10 1 1 0 FAT1 2195 broad.mit.edu 37 4 187521067 187521067 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr4:187521067G>A ENST00000441802.2 - 22 12297 c.12088C>T c.(12088-12090)Ccg>Tcg p.P4030S NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 4030 EGF-like 2. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 GCAGGTGACGGATTGCAAACG 0.507000 HNSCC(5;0.00058) 19 48 0 0 1 0 0 DFFA 1676 broad.mit.edu 37 1 10532399 10532399 + Silent SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:10532399G>C ENST00000377038.3 - 1 184 c.117C>G c.(115-117)ctC>ctG p.L39L DFFA_ENST00000377036.2_Silent_p.L39L NM_004401.2 NP_004392.1 O00273 DFFA_HUMAN DNA fragmentation factor, 45kDa, alpha polypeptide 39 CIDE-N. DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis cytosol|mitochondrion|nucleoplasm|plasma membrane deoxyribonuclease activity|identical protein binding large_intestine(3)|lung(2) 5 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487) TCAGGTCTTCGAGGCAGGAGG 0.706000 10 71 0 0 1 0 0 SCARB2 950 broad.mit.edu 37 4 77082892 77082892 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr4:77082892C>T ENST00000264896.2 - 12 1760 c.1411G>A c.(1411-1413)Gaa>Aaa p.E471K SCARB2_ENST00000452464.2_Missense_Mutation_p.E328K NM_005506.3 NP_005497.1 Q14108 SCRB2_HUMAN scavenger receptor class B, member 2 471 cell adhesion|protein targeting to lysosome integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction enzyme binding|receptor activity breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1) 22 Lung(101;0.196) GGTGCTCTTTCATCCGCTGTT 0.498000 9 51 0 0 1 0 0 DPYS 1807 broad.mit.edu 37 8 105463492 105463492 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr8:105463492C>T ENST00000351513.2 - 2 537 c.405G>A c.(403-405)gtG>gtA p.V135V NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 135 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) TCCACCACGTCACTGCCACAT 0.517000 20 67 0 0 1 0 0 TMEM109 79073 broad.mit.edu 37 11 60689292 60689292 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:60689292G>C ENST00000227525.3 + 4 790 c.387G>C c.(385-387)caG>caC p.Q129H TMEM109_ENST00000536171.1_Missense_Mutation_p.Q129H|RP11-881M11.4_ENST00000543907.1_RNA NM_024092.2 NP_076997.1 Q9BVC6 TM109_HUMAN transmembrane protein 109 129 integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1) 8 GCCAGGTCCAGACCTTCCTGC 0.642000 50 77 0 0 1 0 0 TSEN2 80746 broad.mit.edu 37 3 12545071 12545071 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:12545071G>C ENST00000444864.1 + 5 1006 c.619G>C c.(619-621)Gag>Cag p.E207Q TSEN2_ENST00000314571.7_Missense_Mutation_p.E207Q|TSEN2_ENST00000383797.5_Missense_Mutation_p.E207Q|TSEN2_ENST00000454502.2_Intron|TSEN2_ENST00000402228.3_Missense_Mutation_p.E207Q|TSEN2_ENST00000284995.6_Missense_Mutation_p.E207Q|TSEN2_ENST00000415684.1_Missense_Mutation_p.E207Q NM_001145395.1 NP_001138867.1 Q8NCE0 SEN2_HUMAN TSEN2 tRNA splicing endonuclease subunit 207 mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation cytoplasm|nucleolus|tRNA-intron endonuclease complex nucleic acid binding|tRNA-intron endonuclease activity central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7) 19 AGAGAGCTTTGAGAAAAGCGT 0.572000 12 33 0 0 1 0 0 TMOD3 29766 broad.mit.edu 37 15 52186074 52186074 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr15:52186074G>C ENST00000308580.7 + 6 840 c.559G>C c.(559-561)Gaa>Caa p.E187Q RP11-56B16.5_ENST00000558142.1_RNA|TMOD3_ENST00000544199.1_Missense_Mutation_p.E187Q NM_014547.4 NP_055362.1 Q9NYL9 TMOD3_HUMAN tropomodulin 3 (ubiquitous) 187 cytoplasm|cytoskeleton actin binding|tropomyosin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1) 14 all cancers(107;0.00194) AACCAATGTAGAAGAGAGTTT 0.353000 52 45 0 0 1 0 0 ACOX3 8310 broad.mit.edu 37 4 8383294 8383294 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr4:8383294G>A ENST00000356406.5 - 14 1655 c.1578C>T c.(1576-1578)ctC>ctT p.L526L ACOX3_ENST00000503233.1_Silent_p.L526L|ACOX3_ENST00000413009.2_Silent_p.L526L NM_003501.2 NP_003492.2 O15254 ACOX3_HUMAN acyl-CoA oxidase 3, pristanoyl 526 bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1) 42 AAGTCTCTCGGAGCAGGTAGC 0.408000 12 59 0 0 1 0 0 UBE2Q1 55585 broad.mit.edu 37 1 154527951 154527951 + Nonsense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:154527951G>A ENST00000292211.4 - 3 569 c.490C>T c.(490-492)Cag>Tag p.Q164* UBE2Q1_ENST00000497453.1_5'UTR NM_017582.6 NP_060052.3 Q7Z7E8 UB2Q1_HUMAN ubiquitin-conjugating enzyme E2Q family member 1 164 ATP binding|protein binding|ubiquitin-protein ligase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1) 16 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) TCTGGATGCTGAGGGAGGTTA 0.547000 25 125 0 0 1 0 0 OR52E4 390081 broad.mit.edu 37 11 5906456 5906456 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:5906456G>A ENST00000316987.2 + 1 956 c.934G>A c.(934-936)Gaa>Aaa p.E312K NM_001005165.1 NP_001005165.1 Q8NGH9 O52E4_HUMAN olfactory receptor, family 52, subfamily E, member 4 312 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E312*(1) autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGTACAGAAAGAATAATTCTG 0.363000 9 28 0 0 1 0 0 ZNF74 7625 broad.mit.edu 37 22 20760364 20760364 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr22:20760364C>T ENST00000400451.2 + 5 1555 c.1041C>T c.(1039-1041)ctC>ctT p.L347L ZNF74_ENST00000356671.5_Silent_p.L347L|ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000405993.1_Silent_p.L315L|ZNF74_ENST00000403682.3_3'UTR NM_003426.3 NP_003417.2 Q16587 ZNF74_HUMAN zinc finger protein 74 347 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|nucleus DNA binding|RNA binding|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262)|all_lung(157;0.248) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) GCTCGCTGCTCAGCATGCACC 0.672000 25 48 0 0 1 0 0 TNRC6A 27327 broad.mit.edu 37 16 24802526 24802526 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:24802526G>A ENST00000395799.3 + 6 2692 c.2563G>A c.(2563-2565)Gat>Aat p.D855N TNRC6A_ENST00000315183.7_Missense_Mutation_p.D855N NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 855 Sufficient for interaction with EIF2C1 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) TTCTGCCAGTGATAACTGGGG 0.478000 16 27 0 0 1 0 0 NUP205 23165 broad.mit.edu 37 7 135333283 135333283 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr7:135333283C>T ENST00000285968.6 + 43 6044 c.6018C>T c.(6016-6018)ctC>ctT p.L2006L NM_015135.2 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 2006 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding p.L2006L(1) breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 TCCGTGGCCTCTTGAGGATAT 0.383000 40 39 0 0 1 0 0 SH3BP5 9467 broad.mit.edu 37 3 15303689 15303689 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:15303689G>A ENST00000383791.3 - 5 823 c.603C>T c.(601-603)ctC>ctT p.L201L SH3BP5_ENST00000426925.1_Silent_p.L44L|SH3BP5_ENST00000408919.3_Silent_p.L44L|SH3BP5-AS1_ENST00000420195.1_RNA|SH3BP5_ENST00000253688.5_Silent_p.L44L NM_004844.4 NP_004835.2 O60239 3BP5_HUMAN SH3-domain binding protein 5 (BTK-associated) 201 intracellular signal transduction mitochondrion protein kinase inhibitor activity|SH3 domain binding NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 12 TGGCTCTCTTGAGTTTCTTCT 0.577000 29 61 0 0 1 0 0 IL4I1 259307 broad.mit.edu 37 19 50394272 50394272 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:50394272G>A ENST00000595948.1 - 9 1415 c.795C>T c.(793-795)ttC>ttT p.F265F IL4I1_ENST00000341114.3_Silent_p.F265F|IL4I1_ENST00000391826.2_Silent_p.F243F NM_001258018.1 NP_001244947.1 Q96RQ9 OXLA_HUMAN interleukin 4 induced 1 243 lysosome L-amino-acid oxidase activity endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 16 all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169) GGGCCTCGGCGAAGCTGAGAT 0.667000 35 53 0 0 1 0 0 CFB 629 broad.mit.edu 37 6 31911913 31911913 + Splice_Site SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:31911913G>C ENST00000456570.1 + 12 1408 c.1353G>C c.(1351-1353)gaG>gaC p.E451D C2_ENST00000468407.1_3'UTR|C2_ENST00000442278.2_Splice_Site_p.E472D|C2_ENST00000299367.5_Splice_Site_p.E604D|C2_ENST00000469372.1_Splice_Site_p.E358D|CFB_ENST00000477310.1_Splice_Site_p.E375D|C2_ENST00000452323.2_Splice_Site_p.E390D|CFB_ENST00000556679.1_Splice_Site_p.E451D P00751 CFAB_HUMAN complement factor B 619 VWFA. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 TGACTATAGAGAATGAACTGC 0.483000 17 33 0 0 1 0 0 MIER3 166968 broad.mit.edu 37 5 56231255 56231255 + Splice_Site SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr5:56231255C>G ENST00000381226.3 - 7 625 c.610G>C c.(610-612)Gta>Cta p.V204L MIER3_ENST00000381199.3_Splice_Site_p.V199L|MIER3_ENST00000409421.1_Splice_Site_p.V136L|MIER3_ENST00000381213.3_Splice_Site_p.V199L Q7Z3K6 MIER3_HUMAN mesoderm induction early response 1, family member 3 199 ELM2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1) 19 Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;1.24e-37) CTTTCCTTACCTTTCTCATTA 0.338000 40 69 0 0 1 0 0 RPL13 6137 broad.mit.edu 37 16 89628100 89628100 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:89628100C>T ENST00000393099.3 + 3 610 c.361C>T c.(361-363)Cgc>Tgc p.R121C RPL13_ENST00000311528.5_Missense_Mutation_p.R121C|RPL13_ENST00000452368.3_Intron|RPL13_ENST00000567815.1_Missense_Mutation_p.R121C NM_033251.2 NP_150254.1 P26373 RL13_HUMAN ribosomal protein L13 121 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic ribosome protein binding|RNA binding|structural constituent of ribosome lung(3)|skin(1)|upper_aerodigestive_tract(2) 6 all_hematologic(23;0.0748) all cancers(4;1.15e-07)|OV - Ovarian serous cystadenocarcinoma(4;7.8e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0139) GAAGGAGTACCGCTCCAAACT 0.627000 18 35 0 0 1 0 0 MRPL16 54948 broad.mit.edu 37 11 59573993 59573993 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:59573993G>C ENST00000300151.4 - 4 796 c.583C>G c.(583-585)Cta>Gta p.L195V NM_017840.3 NP_060310.1 Q9NX20 RM16_HUMAN mitochondrial ribosomal protein L16 195 rRNA binding central_nervous_system(1)|endometrium(1)|liver(1)|lung(8) 11 ATCTTCTCTAGAGTCCCGCGG 0.512000 4 122 0 0 1 0 0 TBC1D17 79735 broad.mit.edu 37 19 50381464 50381464 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:50381464C>T ENST00000221543.5 + 2 385 c.86C>T c.(85-87)tCt>tTt p.S29F TBC1D17_ENST00000598789.1_3'UTR|TBC1D17_ENST00000535102.2_Intron|AKT1S1_ENST00000482622.1_5'UTR NM_024682.2 NP_078958 Q9HA65 TBC17_HUMAN TBC1 domain family, member 17 29 intracellular Rab GTPase activator activity NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017) GACCGAGACTCTCTCATCGCT 0.637000 9 7 0 0 1 0 0 TBC1D8B 54885 broad.mit.edu 37 X 106046199 106046199 + Missense_Mutation SNP G G T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chrX:106046199G>T ENST00000357242.5 + 1 290 c.116G>T c.(115-117)gGa>gTa p.G39V TBC1D8B_ENST00000310452.2_Missense_Mutation_p.G39V|TBC1D8B_ENST00000276175.3_Missense_Mutation_p.G39V|TBC1D8B_ENST00000481617.2_Missense_Mutation_p.G39V NM_017752.2 NP_060222.2 Q0IIM8 TBC8B_HUMAN TBC1 domain family, member 8B (with GRAM domain) 39 intracellular calcium ion binding|Rab GTPase activator activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 GAGGAAGGCGGAGGGGGGCTC 0.577000 19 8 1.01871e-10 1.04431e-10 1 1 0 MRPS26 64949 broad.mit.edu 37 20 3027133 3027133 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr20:3027133C>T ENST00000380325.3 + 2 451 c.327C>T c.(325-327)aaC>aaT p.N109N NM_030811.3 NP_110438.1 Q9BYN8 RT26_HUMAN mitochondrial ribosomal protein S26 109 DNA damage response, detection of DNA damage mitochondrial small ribosomal subunit kidney(1)|lung(1) 2 TGGCCTGGAACCAGGCGGAGA 0.771000 4 14 0 0 1 0 0 RREB1 6239 broad.mit.edu 37 6 7229527 7229527 + Nonsense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:7229527C>T ENST00000379938.2 + 10 1732 c.1195C>T c.(1195-1197)Cag>Tag p.Q399* RREB1_ENST00000334984.6_Nonsense_Mutation_p.Q399*|RREB1_ENST00000349384.6_Nonsense_Mutation_p.Q399*|RREB1_ENST00000379933.3_Nonsense_Mutation_p.Q399* NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 399 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) ACTCAAGTGTCAGCTACCTCA 0.617000 15 38 0 0 1 0 0 EML5 161436 broad.mit.edu 37 14 89148330 89148330 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr14:89148330G>C ENST00000554922.1 - 21 3276 c.3028C>G c.(3028-3030)Ctg>Gtg p.L1010V EML5_ENST00000352093.5_Missense_Mutation_p.L972V|EML5_ENST00000380664.5_Missense_Mutation_p.L1010V NM_183387.2 NP_899243.1 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 5 1010 cytoplasm|microtubule breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 CAGATGGGCAGATAAGGGTGT 0.408000 32 72 0 0 1 0 0 PLEKHA6 22874 broad.mit.edu 37 1 204214819 204214819 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:204214819G>A ENST00000272203.3 - 14 2272 c.1956C>T c.(1954-1956)atC>atT p.I652I PLEKHA6_ENST00000414478.1_Silent_p.I672I NM_014935.4 NP_055750.2 Q9Y2H5 PKHA6_HUMAN pleckstrin homology domain containing, family A member 6 652 breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) GGATCCTCCAGATCTCCTTTT 0.587000 25 81 0 0 1 0 0 FOS 2353 broad.mit.edu 37 14 75746726 75746726 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr14:75746726C>T ENST00000303562.4 + 2 497 c.288C>T c.(286-288)ttC>ttT p.F96F FOS_ENST00000555686.1_5'UTR|FOS_ENST00000555242.1_Silent_p.F96F|FOS_ENST00000535987.1_Silent_p.F96F|FOS_ENST00000554617.1_Silent_p.F96F NM_005252.3 NP_005243.1 P01100 FOS_HUMAN FBJ murine osteosarcoma viral oncogene homolog 96 cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|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|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112) BRCA - Breast invasive adenocarcinoma(234;0.0117) CTCACCCTTTCGGAGTCCCCG 0.682000 33 63 0 0 1 0 0 ARMC5 79798 broad.mit.edu 37 16 31473663 31473663 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:31473663C>T ENST00000457010.2 + 3 1496 c.795C>T c.(793-795)ctC>ctT p.L265L ARMC5_ENST00000408912.3_Silent_p.L360L|ARMC5_ENST00000563544.1_Silent_p.L265L|ARMC5_ENST00000538189.1_Silent_p.L297L|ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000268314.4_Silent_p.L265L NM_024742.2 NP_079018.1 Q96C12 ARMC5_HUMAN armadillo repeat containing 5 265 binding central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 TCCTGGAACTCAGCCGAGGCT 0.682000 8 42 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100286458 100286458 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr8:100286458G>A ENST00000395996.1 + 18 2659 c.2548G>A c.(2548-2550)Gag>Aag p.E850K VPS13B_ENST00000357162.2_Missense_Mutation_p.E850K|VPS13B_ENST00000358544.2_Missense_Mutation_p.E850K Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 850 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) GCCAACTCTTGAGGGCTCAAT 0.388000 43 86 0 0 1 0 0 ZNF345 25850 broad.mit.edu 37 19 37369175 37369175 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:37369175C>T ENST00000529555.1 + 2 2231 c.1443C>T c.(1441-1443)ctC>ctT p.L481L ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000589046.1_Silent_p.L481L|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000420450.1_Silent_p.L481L Q14585 ZN345_HUMAN zinc finger protein 345 481 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1) 24 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GTAAGAAACTCTGCGAATTGG 0.338000 45 80 0 0 1 0 0 ANGPTL2 23452 broad.mit.edu 37 9 129854066 129854066 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:129854066C>G ENST00000373425.3 - 4 1782 c.1165G>C c.(1165-1167)Gag>Cag p.E389Q RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000394022.3_Intron|ANGPTL2_ENST00000373417.1_Missense_Mutation_p.E87Q|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000259351.5_Intron NM_012098.2 NP_036230.1 Q9UKU9 ANGL2_HUMAN angiopoietin-like 2 389 Fibrinogen C-terminal. multicellular organismal development|signal transduction extracellular space receptor binding breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1) 18 TACTCGCTCTCAGGTTCCAGG 0.562000 10 336 0 0 1 0 0 ZNF136 7695 broad.mit.edu 37 19 12298524 12298524 + Missense_Mutation SNP G G T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:12298524G>T ENST00000343979.4 + 4 1471 c.1331G>T c.(1330-1332)gGa>gTa p.G444V ZNF136_ENST00000398616.2_Missense_Mutation_p.G378V NM_003437.3 NP_003428.1 P52737 ZN136_HUMAN zinc finger protein 136 444 negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|transcription corepressor activity|zinc ion binding NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 18 ACTCATACTGGAGAGAAACCC 0.383000 15 31 6.31663e-08 6.43377e-08 1 1 0 UGT2B15 7366 broad.mit.edu 37 4 69512827 69512827 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr4:69512827C>G ENST00000338206.5 - 6 1597 c.1588G>C c.(1588-1590)Gat>Cat p.D530H NM_001076.3 NP_001067.2 P54855 UDB15_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B15 530 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity TATAACTAATCTCTTTTCTTC 0.388000 33 87 0 0 1 0 0 PPAN-P2RY11 692312 broad.mit.edu 37 19 10220324 10220324 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:10220324C>T ENST00000428358.1 + 6 703 c.531C>T c.(529-531)atC>atT p.I177I PPAN_ENST00000253107.7_Silent_p.I177I|PPAN_ENST00000556468.1_Silent_p.I177I|PPAN_ENST00000393793.1_Silent_p.I124I|PPAN-P2RY11_ENST00000393796.4_Silent_p.I177I NM_001040664.2|NM_001198690.1 NP_001035754.1|NP_001185619.1 Q9NQ55 SSF1_HUMAN 177 Brix. RNA splicing nucleolus protein binding breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 31 OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05) TGAACACCATCAAGCGCTGCC 0.587000 169 350 0 0 1 0 0 GNAT1 2779 broad.mit.edu 37 3 50231306 50231306 + Silent SNP C C A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:50231306C>A ENST00000232461.3 + 5 684 c.570C>A c.(568-570)ctC>ctA p.L190L GNAT1_ENST00000433068.1_Silent_p.L190L|GNAT1_ENST00000481246.1_3'UTR NM_144499.2 NP_653082.1 P11488 GNAT1_HUMAN guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1 190 detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) TCAAGGATCTCAACTTCCGGT 0.652000 6 125 0.0215528 0.0216133 1 1 0 TSSK4 283629 broad.mit.edu 37 14 24675316 24675316 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr14:24675316G>A ENST00000339917.5 + 1 391 c.187G>A c.(187-189)Gat>Aat p.D63N TSSK4_ENST00000287913.6_Missense_Mutation_p.D63N|TSSK4_ENST00000556621.1_Intron|TSSK4_ENST00000428351.2_Missense_Mutation_p.D63N|TM9SF1_ENST00000530611.1_Intron|TM9SF1_ENST00000556387.1_Intron NM_001184739.1|NM_174944.3 NP_001171668.1|NP_777604.2 Q6SA08 TSSK4_HUMAN testis-specific serine kinase 4 63 Protein kinase. cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|spermatogenesis ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2) 8 GBM - Glioblastoma multiforme(265;0.018) GAAGGCCTCTGATGACTATCT 0.493000 40 95 0 0 1 0 0 MAZ 4150 broad.mit.edu 37 16 29818706 29818706 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:29818706G>C ENST00000219782.6 + 2 706 c.600G>C c.(598-600)aaG>aaC p.K200N AC009133.15_ENST00000566537.1_RNA|MAZ_ENST00000545521.1_Missense_Mutation_p.K177N|MAZ_ENST00000563402.1_Intron|MAZ_ENST00000322945.6_Missense_Mutation_p.K200N|MAZ_ENST00000562337.1_Intron|MAZ_ENST00000566906.2_Intron NM_001042539.1 NP_001036004.1 P56270 MAZ_HUMAN MYC-associated zinc finger protein (purine-binding transcription factor) 200 regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter nucleus DNA binding|protein binding|RNA binding|zinc ion binding endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 10 AGGAGTTCAAGAACGGCTACA 0.637000 10 32 0 0 1 0 0 FAM117A 81558 broad.mit.edu 37 17 47809986 47809986 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:47809986G>A ENST00000240364.2 - 2 372 c.293C>T c.(292-294)tCc>tTc p.S98F FAM117A_ENST00000514018.1_5'UTR|FAM117A_ENST00000513602.1_5'UTR NM_030802.3 NP_110429.1 Q9C073 F117A_HUMAN family with sequence similarity 117, member A 98 haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 17 CAGAAGGTAGGAGCTGAGGAT 0.592000 15 30 0 0 1 0 0 SVOPL 136306 broad.mit.edu 37 7 138333772 138333772 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr7:138333772G>A ENST00000421622.1 - 4 493 c.285C>T c.(283-285)ctC>ctT p.L95L SVOPL_ENST00000419765.3_Silent_p.L215L|SVOPL_ENST00000288513.5_Silent_p.L63L|SVOPL_ENST00000436657.1_Silent_p.L63L Q8N434 SVOPL_HUMAN SVOP-like 215 integral to membrane transmembrane transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 19 AGGCCACGATGAGGATGATGC 0.587000 23 21 0 0 1 0 0 UTRN 7402 broad.mit.edu 37 6 145142076 145142076 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:145142076C>T ENST00000367545.3 + 65 9416 c.9416C>T c.(9415-9417)tCg>tTg p.S3139L UTRN_ENST00000367526.4_Missense_Mutation_p.S694L NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 3139 Interaction with SYNM. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) AAGTTCAGGTCGAAGAAGTAC 0.388000 19 18 0 0 1 0 0 TBC1D1 23216 broad.mit.edu 37 4 37903995 37903995 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr4:37903995C>T ENST00000261439.4 + 2 634 c.279C>T c.(277-279)atC>atT p.I93I TBC1D1_ENST00000508802.1_Silent_p.I93I|TBC1D1_ENST00000402522.1_Silent_p.I93I NM_001253914.1|NM_001253915.1|NM_015173.3 NP_001240843.1|NP_001240844.1|NP_055988.2 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 93 nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 ATTCCAGCATCTTTGAGTGCA 0.498000 33 79 0 0 1 0 0 FADD 8772 broad.mit.edu 37 11 70052340 70052340 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:70052340G>A ENST00000301838.4 + 2 685 c.388G>A c.(388-390)Gag>Aag p.E130K NM_003824.3 NP_003815.1 Q13158 FADD_HUMAN Fas (TNFRSF6)-associated via death domain 130 Death. activation of caspase activity|activation of pro-apoptotic gene products|cellular response to mechanical stimulus|defense response to virus|induction of apoptosis via death domain receptors|innate immune response|interspecies interaction between organisms|necrotic cell death|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|signal transduction cytosol death receptor binding|identical protein binding endometrium(1)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(2) 9 Esophageal squamous(2;1.19e-45) LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) CGACAGCATCGAGGACAGATA 0.532000 6 96 0 0 1 0 0 PSMC6 5706 broad.mit.edu 37 14 53180677 53180677 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr14:53180677G>A ENST00000445930.2 + 7 568 c.562G>A c.(562-564)Gga>Aga p.G188R PSMC6_ENST00000606149.1_Missense_Mutation_p.G174R P62333 PRS10_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 6 174 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|ATPase activity|protein binding, bridging breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1) 19 Breast(41;0.176) TTTGTTATATGGACCACCAGG 0.284000 28 49 0 0 1 0 0 ZNF555 148254 broad.mit.edu 37 19 2851465 2851465 + Splice_Site SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:2851465G>C ENST00000334241.4 + 3 268 c.e3-1 AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Splice_Site NM_001172775.1|NM_152791.4 NP_001166246.1|NP_690004.4 Q8NEP9 ZN555_HUMAN zinc finger protein 555 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4) 23 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) TTTGGTTTCAGATGATGAAAC 0.378000 19 34 0 0 1 0 0 LEMD1 93273 broad.mit.edu 37 1 205350891 205350891 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:205350891C>G ENST00000367153.4 - 6 543 c.441G>C c.(439-441)tgG>tgC p.W147C LEMD1_ENST00000367154.1_Missense_Mutation_p.G100A|LEMD1-AS1_ENST00000447832.1_RNA|LEMD1_ENST00000367152.1_Missense_Mutation_p.W106C|LEMD1_ENST00000391936.2_Missense_Mutation_p.G100A|LEMD1_ENST00000367151.2_Missense_Mutation_p.W106C|LEMD1_ENST00000367149.3_Missense_Mutation_p.G59A|LEMD1_ENST00000476884.1_5'UTR NM_001199050.1 NP_001185979.1 Q68G75 LEMD1_HUMAN LEM domain containing 1 147 integral to membrane|nuclear envelope breast(1)|lung(2) 3 Breast(84;0.247) BRCA - Breast invasive adenocarcinoma(75;0.0938) CTTCTTCTCTCCAGCTCTCGA 0.483000 33 155 0 0 1 0 0 CUEDC2 79004 broad.mit.edu 37 10 104184490 104184490 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr10:104184490G>A ENST00000369937.4 - 3 279 c.134C>T c.(133-135)tCg>tTg p.S45L NM_024040.2 NP_076945.2 Q9H467 CUED2_HUMAN CUE domain containing 2 45 cytoplasm|nucleus protein binding autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.122) Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) TGATGGGCCCGAGGGGCCCAG 0.587000 42 36 0 0 1 0 0 COX7B2 170712 broad.mit.edu 37 4 46737063 46737063 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr4:46737063G>C ENST00000396533.1 - 4 397 c.147C>G c.(145-147)ttC>ttG p.F49L COX7B2_ENST00000355591.3_Missense_Mutation_p.F49L|COX7B2_ENST00000302930.5_Missense_Mutation_p.F49L|COX7B2_ENST00000543208.1_Missense_Mutation_p.F48L Q8TF08 CX7B2_HUMAN cytochrome c oxidase subunit VIIb2 49 integral to membrane|mitochondrial respiratory chain cytochrome-c oxidase activity large_intestine(1)|lung(4) 5 TAGCAACACAGAAAGCAGTTC 0.428000 20 63 0 0 1 0 0 NR3C1 2908 broad.mit.edu 37 5 142780067 142780067 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr5:142780067G>A ENST00000343796.2 - 2 1331 c.338C>T c.(337-339)tCc>tTc p.S113F NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000394466.2_Missense_Mutation_p.S113F|NR3C1_ENST00000415690.2_Missense_Mutation_p.S113F|NR3C1_ENST00000424646.2_Missense_Mutation_p.S113F|NR3C1_ENST00000394464.2_Missense_Mutation_p.S113F|NR3C1_ENST00000503201.1_Missense_Mutation_p.S113F|NR3C1_ENST00000231509.3_Missense_Mutation_p.S113F|NR3C1_ENST00000504572.1_Missense_Mutation_p.S113F NM_001018074.1|NM_001018075.1|NM_001018077.1 NP_001018084.1|NP_001018085.1|NP_001018087.1 P04150 GCR_HUMAN nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) 113 Modulating. chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter mitochondrial matrix|nucleoplasm glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 35 Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635) TTCCCCCGAGGAAAGGCTGAT 0.473000 67 101 0 0 1 0 0 USP16 10600 broad.mit.edu 37 21 30419526 30419526 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr21:30419526C>T ENST00000334352.4 + 15 2126 c.1895C>T c.(1894-1896)tCa>tTa p.S632L USP16_ENST00000535828.1_Missense_Mutation_p.S261L|USP16_ENST00000399976.2_Missense_Mutation_p.S632L|USP16_ENST00000399975.3_Missense_Mutation_p.S631L NM_001032410.1 NP_001027582.1 Q9Y5T5 UBP16_HUMAN ubiquitin specific peptidase 16 632 cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2) 34 GATGAGTGTTCAATCCAACAT 0.398000 37 41 0 0 1 0 0 MYH11 4629 broad.mit.edu 37 16 15820739 15820739 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:15820739C>G ENST00000452625.2 - 29 3932 c.3845G>C c.(3844-3846)cGg>cCg p.R1282P MYH11_ENST00000576790.2_Missense_Mutation_p.R1275P|MYH11_ENST00000300036.5_Missense_Mutation_p.R1275P|MYH11_ENST00000396324.3_Missense_Mutation_p.R1282P|AF001548.5_ENST00000574212.1_RNA NM_001040113.1 NP_001035202.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 1275 axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 GAGCTCCGCCCGGGCCCGCTC 0.647000 T CBFB AML 30 104 0 0 1 0 0 SENP3 26168 broad.mit.edu 37 17 7466472 7466472 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:7466472C>T ENST00000321337.7 + 2 399 c.79C>T c.(79-81)Ccc>Tcc p.P27S SENP3_ENST00000578868.1_3'UTR|SENP3_ENST00000429205.2_Missense_Mutation_p.P27S NM_015670.5 NP_056485.2 Q9H4L4 SENP3_HUMAN SUMO1/sentrin/SMT3 specific peptidase 3 27 Pro-rich. proteolysis MLL1 complex|nucleolus cysteine-type peptidase activity central_nervous_system(1)|ovary(1) 2 Prostate(122;0.157) TTACTCAAGTCCCAGGCGGGA 0.607000 12 3 0 0 1 0 0 UHRF2 115426 broad.mit.edu 37 9 6460580 6460580 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:6460580G>C ENST00000276893.5 + 4 820 c.652G>C c.(652-654)Gaa>Caa p.E218Q NM_152896.2 NP_690856.1 Q96PU4 UHRF2_HUMAN ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase 218 Interaction with PCNP. cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process nucleus DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1) 17 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129) CAGATACCCAGAAAGCGGTAC 0.358000 20 42 0 0 1 0 0 ENDOU 8909 broad.mit.edu 37 12 48106362 48106362 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr12:48106362G>C ENST00000422538.3 - 8 1031 c.909C>G c.(907-909)atC>atG p.I303M RP1-197B17.3_ENST00000547799.1_lincRNA|ENDOU_ENST00000545824.2_Missense_Mutation_p.I240M|ENDOU_ENST00000542202.1_Missense_Mutation_p.I69M|ENDOU_ENST00000229003.3_Missense_Mutation_p.I262M NM_001172439.1 NP_001165910.1 P21128 ENDOU_HUMAN endonuclease, polyU-specific 303 female pregnancy|immune response|proteolysis cytoplasm|extracellular space|plasma membrane endoribonuclease activity|growth factor activity|manganese ion binding|polysaccharide binding|RNA binding|scavenger receptor activity|serine-type peptidase activity autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1) 14 GGTAGAAGCGGATCCAGTTAT 0.493000 15 27 0 0 1 0 0 CILP2 148113 broad.mit.edu 37 19 19655962 19655962 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:19655962G>A ENST00000586018.1 + 8 2728 c.2626G>A c.(2626-2628)Gac>Aac p.D876N CILP2_ENST00000291495.5_Missense_Mutation_p.D870N Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 870 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 CAGGCCAGGTGACCCCGCCGA 0.692000 22 43 0 0 1 0 0 CTNND1 1500 broad.mit.edu 37 11 57576803 57576803 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:57576803C>T ENST00000524630.1 + 14 2795 c.2282C>T c.(2281-2283)tCt>tTt p.S761F CTNND1_ENST00000361391.6_Missense_Mutation_p.S761F|CTNND1_ENST00000358694.6_Missense_Mutation_p.S761F|CTNND1_ENST00000532245.1_Missense_Mutation_p.S660F|CTNND1_ENST00000426142.2_Missense_Mutation_p.S660F|CTNND1_ENST00000533667.1_Missense_Mutation_p.S438F|CTNND1_ENST00000529873.1_Missense_Mutation_p.S707F|CTNND1_ENST00000361796.4_Missense_Mutation_p.S761F|CTNND1_ENST00000527467.1_Missense_Mutation_p.S444F|CTNND1_ENST00000361332.4_Missense_Mutation_p.S761F|CTNND1_ENST00000534579.1_Missense_Mutation_p.S707F|CTNND1_ENST00000415361.2_Missense_Mutation_p.S666F|CTNND1_ENST00000399050.4_Missense_Mutation_p.S767F|CTNND1_ENST00000530748.1_Missense_Mutation_p.S713F|CTNND1_ENST00000360682.6_Missense_Mutation_p.S767F|CTNND1_ENST00000529986.1_Missense_Mutation_p.S660F|CTNND1_ENST00000528621.1_Missense_Mutation_p.S707F|CTNND1_ENST00000530094.1_Missense_Mutation_p.S660F|CTNND1_ENST00000529919.1_Missense_Mutation_p.S767F|CTNND1_ENST00000532787.1_Missense_Mutation_p.S660F|CTNND1_ENST00000532463.1_Missense_Mutation_p.S660F|CTNND1_ENST00000525902.1_Missense_Mutation_p.S444F|CTNND1_ENST00000526938.1_Missense_Mutation_p.S767F|CTNND1_ENST00000399039.4_Missense_Mutation_p.S767F|CTNND1_ENST00000532844.1_Missense_Mutation_p.S713F|CTNND1_ENST00000531014.1_Missense_Mutation_p.S438F|CTNND1_ENST00000428599.2_Missense_Mutation_p.S761F|CTNND1_ENST00000526357.1_Missense_Mutation_p.S707F|CTNND1_ENST00000532649.1_Missense_Mutation_p.S707F|CTNND1_ENST00000529526.1_Missense_Mutation_p.S707F|CTNND1_ENST00000528232.1_Missense_Mutation_p.S666F|CTNND1_ENST00000526772.1_Missense_Mutation_p.S438F O60716 CTND1_HUMAN catenin (cadherin-associated protein), delta 1 767 adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytosol|midbody|nucleus cadherin binding|protein binding|receptor binding breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2) 45 all_epithelial(135;0.155) CAGAACTCCTCTTGGAATTTC 0.433000 15 21 0 0 1 0 0 DNAJB12 54788 broad.mit.edu 37 10 74114728 74114728 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr10:74114728C>T ENST00000338820.3 - 1 179 c.30G>A c.(28-30)gcG>gcA p.A10A DNAJB12_ENST00000444643.2_5'UTR|DNAJB12_ENST00000394903.2_Silent_p.A10A NM_001002762.2 NP_001002762.2 Q9NXW2 DJB12_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 12 0 protein folding endoplasmic reticulum|integral to membrane heat shock protein binding|unfolded protein binding endometrium(1)|large_intestine(2)|skin(1) 4 GCCGGCGCGTCGCGGGCAGCC 0.652000 12 12 0 0 1 0 0 UGT1A1 54658 broad.mit.edu 37 2 234669392 234669392 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:234669392C>T ENST00000360418.3 + 1 459 c.459C>T c.(457-459)ttC>ttT p.F153F UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000609767.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A8_ENST00000305208.5_Silent_p.F153F|UGT1A6_ENST00000305139.6_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000608383.1_Silent_p.F153F|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron P22309 UD11_HUMAN 153 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) CGGACCCTTTCCTTCCTTGCA 0.547000 59 44 0 0 1 0 0 TJP1 7082 broad.mit.edu 37 15 30010610 30010610 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr15:30010610G>A ENST00000346128.6 - 21 4210 c.3736C>T c.(3736-3738)Cca>Tca p.P1246S TJP1_ENST00000400011.2_Missense_Mutation_p.P1170S|TJP1_ENST00000356107.6_Missense_Mutation_p.P1246S|TJP1_ENST00000545208.2_Missense_Mutation_p.P1166S NM_003257.3|NM_175610.2 NP_003248.3|NP_783297.2 Q07157 ZO1_HUMAN tight junction protein 1 1246 Poly-Pro. cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1) 68 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) GTTGGGGGTGGAGGCAGTGGT 0.483000 35 23 0 0 1 0 0 RASGRF1 5923 broad.mit.edu 37 15 79272967 79272967 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr15:79272967C>T ENST00000419573.3 - 25 3811 c.3537G>A c.(3535-3537)ctG>ctA p.L1179L RASGRF1_ENST00000560334.1_5'UTR|RP11-16K12.1_ENST00000316148.4_RNA|RASGRF1_ENST00000394745.3_Silent_p.L395L|RASGRF1_ENST00000558480.2_Silent_p.L1163L NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 1181 Ras-GEF. activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 CTTACTTTTTCAGAGCTTCTC 0.433000 14 30 0 0 1 0 0 MX2 4600 broad.mit.edu 37 21 42762623 42762623 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr21:42762623G>A ENST00000330714.3 + 6 1048 c.864G>A c.(862-864)agG>agA p.R288R MX2_ENST00000496774.1_3'UTR|MX2_ENST00000543692.1_Intron NM_002463.1 NP_002454.1 P20592 MX2_HUMAN myxovirus (influenza virus) resistance 2 (mouse) 288 response to virus|type I interferon-mediated signaling pathway cytoplasm|nucleus GTP binding|GTPase activity breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 34 Prostate(19;1.57e-07)|all_epithelial(19;0.0222) AAGGGGACAGGACCATCGGTA 0.612000 29 29 0 0 1 0 0 AMMECR1 9949 broad.mit.edu 37 X 109561181 109561181 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chrX:109561181C>T ENST00000262844.5 - 1 286 c.119G>A c.(118-120)cGa>cAa p.R40Q AMMECR1_ENST00000372059.2_Missense_Mutation_p.R40Q|AMMECR1_ENST00000372057.1_Intron NM_015365.2 NP_056180.1 Q9Y4X0 AMER1_HUMAN Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 40 Gly/Ser-rich. large_intestine(1)|lung(4)|ovary(1)|stomach(1) 7 CTCCCCAGCTCGGCACTGGCT 0.692000 9 3 0 0 1 0 0 ZNF549 256051 broad.mit.edu 37 19 58049730 58049730 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:58049730C>T ENST00000376233.3 + 4 1539 c.1358C>T c.(1357-1359)tCa>tTa p.S453L ZNF549_ENST00000240719.3_Missense_Mutation_p.S440L|ZNF549_ENST00000594943.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000602149.1_Intron NM_001199295.1 NP_001186224 Q6P9A3 ZN549_HUMAN zinc finger protein 549 453 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 21 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TGTGGGAAATCATTTATCCGC 0.428000 24 53 0 0 1 0 0 MYH9 4627 broad.mit.edu 37 22 36685341 36685341 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr22:36685341G>A ENST00000216181.5 - 32 4577 c.4347C>T c.(4345-4347)ctC>ctT p.L1449L NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 1449 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 CCTCCGCCAGGAGCTGGGAAA 0.672000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 6 14 0 0 1 0 0 ITGB6 3694 broad.mit.edu 37 2 161052922 161052922 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:161052922G>A ENST00000283249.2 - 3 388 c.151C>T c.(151-153)Cat>Tat p.H51Y ITGB6_ENST00000409872.1_Missense_Mutation_p.H51Y|ITGB6_ENST00000409967.2_Missense_Mutation_p.H51Y|ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000428609.2_Missense_Mutation_p.H9Y NM_001282353.1|NM_001282354.1|NM_001282388.1 NP_001269282.1|NP_001269283.1|NP_001269317.1 P18564 ITB6_HUMAN integrin, beta 6 51 cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development integrin complex receptor activity p.H51Y(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 CCAGATGGATGAGTAAAATTC 0.333000 79 45 0 0 1 0 0 FREM1 158326 broad.mit.edu 37 9 14859371 14859371 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:14859371G>A ENST00000380881.4 - 5 1256 c.441C>T c.(439-441)ttC>ttT p.F147F FREM1_ENST00000380880.3_Silent_p.F147F|FREM1_ENST00000422223.2_Silent_p.F147F Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 147 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) ACAAGCCATTGAATTCAGGCA 0.448000 62 130 0 0 1 0 0 YME1L1 10730 broad.mit.edu 37 10 27408250 27408250 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr10:27408250C>G ENST00000326799.3 - 15 1859 c.1711G>C c.(1711-1713)Gag>Cag p.E571Q YME1L1_ENST00000375972.3_Missense_Mutation_p.E481Q|YME1L1_ENST00000376016.3_Missense_Mutation_p.E514Q NM_139312.2 NP_647473.1 Q96TA2 YMEL1_HUMAN YME1-like 1 ATPase 571 protein catabolic process|proteolysis membrane|mitochondrion ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 TTGGAAAACTCCAGCTCCTTC 0.378000 35 83 0 0 1 0 0 ARPC1A 10552 broad.mit.edu 37 7 98951540 98951540 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr7:98951540C>T ENST00000432884.2 + 8 829 c.368C>T c.(367-369)tCt>tTt p.S123F ARPC1A_ENST00000262942.5_Missense_Mutation_p.S170F Q92747 ARC1A_HUMAN actin related protein 2/3 complex, subunit 1A, 41kDa 170 actin cytoskeleton organization|regulation of actin filament polymerization actin cytoskeleton|cytoplasm actin binding endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1) 19 all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258) STAD - Stomach adenocarcinoma(171;0.215) AGAGTGTTTTCTGCCTACATT 0.458000 71 38 0 0 1 0 0 STAB1 23166 broad.mit.edu 37 3 52557301 52557301 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:52557301G>A ENST00000321725.6 + 64 7160 c.7084G>A c.(7084-7086)Gag>Aag p.E2362K NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 2362 FAS1 7. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) CCTGGATGATGAGCTCACGTA 0.547000 54 83 0 0 1 0 0 VAMP1 6843 broad.mit.edu 37 12 6575088 6575088 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr12:6575088C>T ENST00000361716.3 - 3 663 c.208G>A c.(208-210)Gat>Aat p.D70N VAMP1_ENST00000544432.1_5'UTR|VAMP1_ENST00000400911.3_Missense_Mutation_p.D70N|VAMP1_ENST00000396308.3_Missense_Mutation_p.D70N|TAPBPL_ENST00000545700.1_3'UTR|VAMP1_ENST00000535180.1_Missense_Mutation_p.D70N P23763 VAMP1_HUMAN vesicle-associated membrane protein 1 (synaptobrevin 1) 70 v-SNARE coiled-coil homology. neurotransmitter secretion|vesicle-mediated transport cell junction|endocytic vesicle membrane|integral to plasma membrane|mitochondrial outer membrane|synaptic vesicle membrane|synaptosome protein binding endometrium(1)|large_intestine(1)|prostate(1) 3 Botulinum Toxin Type B(DB00042) TGCAAGGCATCAGCTCGGTCA 0.512000 OREG0021627 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 57 0 0 1 0 0 USP21 27005 broad.mit.edu 37 1 161132481 161132481 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:161132481C>T ENST00000368002.3 + 6 1235 c.858C>T c.(856-858)gtC>gtT p.V286V USP21_ENST00000368001.1_Silent_p.V286V|USP21_ENST00000289865.8_Silent_p.V286V NM_001014443.2 NP_001014443.1 Q9UK80 UBP21_HUMAN ubiquitin specific peptidase 21 286 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process nucleus metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3) 29 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) TCCGAGCTGTCTTCCAGAAAT 0.562000 24 17 0 0 1 0 0 TRAV12-3 28672 broad.mit.edu 37 14 22434277 22434277 + RNA SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr14:22434277C>G ENST00000390442.3 + 0 386 CCACCTACCTCTGTGCAATGA 0.502000 60 119 0 0 1 0 0 HSP90AB1 3326 broad.mit.edu 37 6 44219858 44219858 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:44219858G>A ENST00000371554.1 + 10 1799 c.1585G>A c.(1585-1587)Gat>Aat p.D529N HSP90AB1_ENST00000371646.5_Missense_Mutation_p.D529N|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.D529N P08238 HS90B_HUMAN heat shock protein 90kDa alpha (cytosolic), class B member 1 529 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2) 33 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CAAGGAATTTGATGGGAAGAG 0.517000 19 30 0 0 1 0 0 KIF21B 23046 broad.mit.edu 37 1 200957427 200957427 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:200957427G>C ENST00000332129.2 - 24 3721 c.3405C>G c.(3403-3405)ttC>ttG p.F1135L KIF21B_ENST00000360529.5_Missense_Mutation_p.F1135L|KIF21B_ENST00000461742.2_Missense_Mutation_p.F1135L|KIF21B_ENST00000422435.2_Missense_Mutation_p.F1135L NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 1135 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 GGCTCACCTTGAACTTGAAAT 0.582000 20 117 0 0 1 0 0 ZZEF1 23140 broad.mit.edu 37 17 4013020 4013020 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:4013020G>C ENST00000381638.2 - 6 1328 c.1204C>G c.(1204-1206)Ctg>Gtg p.L402V ZZEF1_ENST00000574474.1_5'UTR NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 402 DOC. calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 GATGTCAGCAGAGACCAATAC 0.483000 29 31 0 0 1 0 0 LIPE 3991 broad.mit.edu 37 19 42906928 42906928 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:42906928C>T ENST00000244289.4 - 9 3074 c.2798G>A c.(2797-2799)aGa>aAa p.R933K LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000594624.2_RNA NM_005357.2 NP_005348.2 Q05469 LIPS_HUMAN lipase, hormone-sensitive 933 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 Prostate(69;0.00682) GCCCAGGCCTCTGTCCATGGG 0.607000 17 51 0 0 1 0 0 FLVCR2 55640 broad.mit.edu 37 14 76045402 76045402 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr14:76045402C>T ENST00000238667.4 + 1 443 c.87C>T c.(85-87)gtC>gtT p.V29V AC007182.6_ENST00000455232.1_RNA NM_017791.2 NP_060261.2 Q9UPI3 FLVC2_HUMAN feline leukemia virus subgroup C cellular receptor family, member 2 29 8 X 6 AA tandem repeats of P-S-[VS]-S- [VIAG]-[HNP]. transmembrane transport integral to membrane|plasma membrane heme binding|heme transporter activity endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 15 BRCA - Breast invasive adenocarcinoma(234;0.029) GCGTCTCGGTCCATCCCAGCG 0.637000 69 133 0 0 1 0 0 NDC80 10403 broad.mit.edu 37 18 2606449 2606449 + Silent SNP G G T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr18:2606449G>T ENST00000261597.4 + 14 1682 c.1500G>T c.(1498-1500)gtG>gtT p.V500V NM_006101.2 NP_006092.1 O14777 NDC80_HUMAN NDC80 kinetochore complex component 500 Interaction with NEK2 and ZWINT.|Interaction with PSMC2 and SMC1A.|Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex. attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex protein binding NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2) 22 AGAGAAGTGTGAGAACTCTGA 0.323000 24 45 7.41945e-09 7.57325e-09 1 1 0 ST6GALNAC1 55808 broad.mit.edu 37 17 74625176 74625176 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:74625176C>T ENST00000156626.7 - 2 948 c.749G>A c.(748-750)aGa>aAa p.R250K ST6GALNAC1_ENST00000590878.1_5'UTR NM_018414.3 NP_060884.1 Q9NSC7 SIA7A_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 250 protein glycosylation integral to Golgi membrane alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 22 GGCCTTCAGTCTTTGGTTTCT 0.537000 36 91 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187524560 187524560 + Nonsense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr4:187524560G>C ENST00000441802.2 - 19 11329 c.11120C>G c.(11119-11121)tCa>tGa p.S3707* NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 3707 actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TTGTTTTGTTGAGATCTGAGC 0.433000 HNSCC(5;0.00058) 8 27 0 0 1 0 0 TNIK 23043 broad.mit.edu 37 3 170811656 170811656 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:170811656G>A ENST00000436636.2 - 23 3037 c.2693C>T c.(2692-2694)tCa>tTa p.S898L TNIK_ENST00000369326.5_Missense_Mutation_p.S876L|TNIK_ENST00000475336.1_Missense_Mutation_p.S806L|TNIK_ENST00000460047.1_Missense_Mutation_p.S835L|TNIK_ENST00000488470.1_Missense_Mutation_p.S843L|TNIK_ENST00000284483.8_Missense_Mutation_p.S890L|TNIK_ENST00000470834.1_Missense_Mutation_p.S861L|TNIK_ENST00000538048.1_Missense_Mutation_p.S850L|TNIK_ENST00000357327.5_Missense_Mutation_p.S869L|TNIK_ENST00000341852.6_Missense_Mutation_p.S814L NM_015028.2 NP_055843.1 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase 898 Mediates interaction with NEDD4. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2) 62 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) TCCTTCTCTTGAAATACTGCC 0.463000 17 21 0 0 1 0 0 UBAP1 51271 broad.mit.edu 37 9 34249794 34249794 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:34249794C>T ENST00000536252.1 + 6 1499 c.1101C>T c.(1099-1101)ttC>ttT p.F367F UBAP1_ENST00000297661.4_Silent_p.F367F|UBAP1_ENST00000359544.2_Silent_p.F367F|UBAP1_ENST00000545103.1_Silent_p.F431F|UBAP1_ENST00000540348.1_Silent_p.F367F|UBAP1_ENST00000379186.4_Intron|UBAP1_ENST00000543944.1_Silent_p.F403F NM_001171203.2 NP_001164674.1 Q9NZ09 UBAP1_HUMAN ubiquitin associated protein 1 367 cytoplasm endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1) 13 LUSC - Lung squamous cell carcinoma(29;0.00272) CTCCTAATTTCTCAGTGTCAC 0.557000 35 74 0 0 1 0 0 VPS51 738 broad.mit.edu 37 11 64878010 64878010 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:64878010G>C ENST00000279281.3 + 8 2027 c.1935G>C c.(1933-1935)aaG>aaC p.K645N VPS51_ENST00000527646.1_3'UTR NM_013265.2 NP_037397.2 vacuolar protein sorting 51 homolog (S. cerevisiae) ACTCCAGCAAGAGGACTTTCT 0.637000 OREG0021071 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 81 246 0 0 1 0 0 USP32 84669 broad.mit.edu 37 17 58260692 58260692 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:58260692G>A ENST00000300896.4 - 31 4151 c.3957C>T c.(3955-3957)ctC>ctT p.L1319L USP32_ENST00000592339.1_Silent_p.L989L NM_032582.3 NP_115971.2 Q8NFA0 UBP32_HUMAN ubiquitin specific peptidase 32 1319 protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity p.L1319L(1) NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1) 62 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) TATGCTGGCAGAGAGCCGGGT 0.493000 46 100 0 0 1 0 0 ATP13A1 57130 broad.mit.edu 37 19 19758433 19758433 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:19758433G>A ENST00000357324.6 - 20 2794 c.2768C>T c.(2767-2769)tCc>tTc p.S923F ATP13A1_ENST00000291503.5_Missense_Mutation_p.S805F NM_020410.2 NP_065143.2 Q9HD20 AT131_HUMAN ATPase type 13A1 923 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 CTGCTCCTCGGAGGGAGGGAG 0.692000 6 35 0 0 1 0 0 PIK3R4 30849 broad.mit.edu 37 3 130435391 130435391 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:130435391G>A ENST00000356763.3 - 9 2737 c.2180C>T c.(2179-2181)tCt>tTt p.S727F NM_014602.2 NP_055417.1 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 727 fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 77 ATCAAATATAGAACGACTTAC 0.353000 12 34 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19441973 19441973 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:19441973G>A ENST00000375267.2 - 74 10985 c.10982C>T c.(10981-10983)cCt>cTt p.P3661L UBR4_ENST00000375217.2_Missense_Mutation_p.P3654L|UBR4_ENST00000375226.2_Missense_Mutation_p.P3637L|UBR4_ENST00000375218.3_Missense_Mutation_p.P76L|UBR4_ENST00000375254.3_Missense_Mutation_p.P3661L Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 3661 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) ACTACAGCGAGGGCACTGCAG 0.527000 47 72 0 0 1 0 0 SHBG 6462 broad.mit.edu 37 17 7533733 7533733 + Splice_Site SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:7533733G>C ENST00000380450.4 + 2 142 c.e2-1 SHBG_ENST00000576728.1_Intron|SHBG_ENST00000572262.1_Intron|SHBG_ENST00000416273.3_Splice_Site|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000340624.5_Splice_Site|SHBG_ENST00000575314.1_Intron|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000574539.1_Intron|SHBG_ENST00000441599.2_Splice_Site|SHBG_ENST00000575903.1_Splice_Site NM_001040.3 NP_001031.2 P04278 SHBG_HUMAN sex hormone-binding globulin hormone transport extracellular region androgen binding|protein homodimerization activity p.?(1) cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1) 10 all_cancers(10;0.0867) READ - Rectum adenocarcinoma(115;0.168) Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624) CTTTCTGATAGAGTGCCCACG 0.542000 62 28 0 0 1 0 0 ZNF792 126375 broad.mit.edu 37 19 35449261 35449261 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:35449261G>A ENST00000404801.1 - 4 1884 c.1498C>T c.(1498-1500)Cac>Tac p.H500Y ZNF792_ENST00000605484.1_Missense_Mutation_p.H433Y NM_175872.4 NP_787068.3 Q3KQV3 ZN792_HUMAN zinc finger protein 792 500 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5) 12 all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) TCACCAGTGTGAAGTCTCCGA 0.512000 27 38 0 0 1 0 0 CYP19A1 1588 broad.mit.edu 37 15 51503070 51503070 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr15:51503070C>T ENST00000396402.1 - 10 1600 c.1447G>A c.(1447-1449)Gag>Aag p.E483K CYP19A1_ENST00000396404.4_Missense_Mutation_p.E483K|CYP19A1_ENST00000260433.2_Missense_Mutation_p.E483K|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000559878.1_Missense_Mutation_p.E483K NM_000103.3 NP_000094.2 P11511 CP19A_HUMAN cytochrome P450, family 19, subfamily A, polypeptide 1 483 estrogen biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|membrane fraction aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 33 all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128) Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624) TTTTTAGTCTCATCTGGGTGC 0.463000 37 141 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123333164 123333164 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:123333164C>G ENST00000360772.3 - 34 5758 c.5380G>C c.(5380-5382)Gat>Cat p.D1794H MYLK_ENST00000475616.1_Missense_Mutation_p.D1845H|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000354792.5_Missense_Mutation_p.D645H|MYLK_ENST00000359169.1_Missense_Mutation_p.D1794H|MYLK_ENST00000346322.5_Missense_Mutation_p.D1776H|MYLK_ENST00000583087.1_Missense_Mutation_p.D85H|MYLK_ENST00000360304.3_Missense_Mutation_p.D1845H|MYLK_ENST00000418370.2_Missense_Mutation_p.D85H|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000578202.1_Missense_Mutation_p.D84H|MYLK-AS1_ENST00000485162.1_RNA Q15746 MYLK_HUMAN myosin light chain kinase 1845 aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) GACTGGTCATCTTTGAACCAG 0.468000 21 50 0 0 1 0 0 INSRR 3645 broad.mit.edu 37 1 156821484 156821484 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:156821484G>A ENST00000368195.3 - 4 1434 c.1038C>T c.(1036-1038)ggC>ggT p.G346G NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 346 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CATGCGTGCAGCCCACAAGAT 0.587000 7 43 0 0 1 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128846482 128846482 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:128846482G>A ENST00000310343.9 - 19 2127 c.2128C>T c.(2128-2130)Ctt>Ttt p.L710F ARHGAP32_ENST00000527272.1_Missense_Mutation_p.L361F|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.L361F|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.L636F NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 710 cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 AGAGATGTAAGAGACTCCTCA 0.348000 26 28 0 0 1 0 0 EXOC4 60412 broad.mit.edu 37 7 132937934 132937934 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr7:132937934C>G ENST00000253861.4 + 1 106 c.77C>G c.(76-78)tCt>tGt p.S26C EXOC4_ENST00000393161.2_Missense_Mutation_p.S26C NM_021807.3 NP_068579.3 Q96A65 EXOC4_HUMAN exocyst complex component 4 26 vesicle docking involved in exocytosis exocyst protein N-terminus binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 50 Esophageal squamous(399;0.129) CTGCTCATCTCTGTGATCAGG 0.627000 33 57 0 0 1 0 0 RPS16 6217 broad.mit.edu 37 19 39924298 39924298 + Missense_Mutation SNP G G A rs11555713 TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:39924298G>A ENST00000339471.4 - 3 294 c.254C>T c.(253-255)tCc>tTc p.S85F RPS16_ENST00000601655.1_Intron|RPS16_ENST00000599539.1_Intron|RPS16_ENST00000251453.3_Intron P62249 RS16_HUMAN ribosomal protein S16 85 endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit protein binding|RNA binding|structural constituent of ribosome central_nervous_system(1)|large_intestine(2)|lung(2)|skin(2) 7 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;4.14e-26)|all cancers(26;2.68e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) CAGTTCCTGGGACTCACCATA 0.562000 33 34 0 0 1 0 0 COL16A1 1307 broad.mit.edu 37 1 32120441 32120441 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:32120441C>T ENST00000373672.3 - 68 4825 c.4309G>A c.(4309-4311)Gat>Aat p.D1437N RP11-73M7.6_ENST00000609033.1_RNA|RP11-73M7.6_ENST00000609338.1_RNA|RP11-73M7.6_ENST00000610043.1_RNA|COL16A1_ENST00000271069.6_Missense_Mutation_p.D1437N|RP11-73M7.6_ENST00000608332.1_RNA|RP11-73M7.6_ENST00000589462.1_RNA|RP11-73M7.6_ENST00000593188.1_RNA|RP11-73M7.6_ENST00000609373.1_RNA|RP11-73M7.6_ENST00000585413.1_RNA|COL16A1_ENST00000461217.1_5'UTR|RP11-73M7.6_ENST00000591929.1_RNA|RP11-73M7.6_ENST00000591592.1_RNA|RP11-73M7.6_ENST00000585660.1_RNA|RP11-73M7.6_ENST00000610216.1_RNA|RP11-73M7.6_ENST00000608246.1_RNA|RP11-73M7.6_ENST00000608888.1_RNA|RP11-73M7.6_ENST00000609625.1_RNA|RP11-73M7.6_ENST00000607926.1_RNA|RP11-73M7.6_ENST00000587445.1_RNA|RP11-73M7.6_ENST00000609549.1_RNA NM_001856.3 NP_001847.3 Q07092 COGA1_HUMAN collagen, type XVI, alpha 1 1437 Nonhelical region 2 (NC2). cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4) 48 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) TTGATTTCATCATAATTCACC 0.448000 62 116 0 0 1 0 0 FAM84B 157638 broad.mit.edu 37 8 127569296 127569296 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr8:127569296G>A ENST00000304916.3 - 2 794 c.339C>T c.(337-339)ctC>ctT p.L113L RP11-103H7.5_ENST00000524320.1_RNA NM_174911.4 NP_777571.1 Q96KN1 FA84B_HUMAN family with sequence similarity 84, member B 113 cytoplasm|plasma membrane protein binding lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 5 Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135) STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723) TGCACTTGTTGAGCAGGTTCT 0.612000 21 49 0 0 1 0 0 OR2G3 81469 broad.mit.edu 37 1 247769302 247769302 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:247769302C>T ENST00000320002.2 + 1 447 c.415C>T c.(415-417)Cgg>Tgg p.R139W RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA NM_001001914.1 NP_001001914.1 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, member 3 139 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R139R(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5) 50 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) CATGAACCCACGGCTTTGCCA 0.512000 28 124 0 0 1 0 0 CAPG 822 broad.mit.edu 37 2 85622043 85622043 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:85622043G>A ENST00000263867.4 - 10 1269 c.1020C>T c.(1018-1020)ttC>ttT p.F340F CAPG_ENST00000409921.1_Silent_p.F325F|CAPG_ENST00000409670.1_Silent_p.F340F|CAPG_ENST00000409724.1_Silent_p.F340F NM_001256140.1|NM_001747.3 NP_001243069.1|NP_001738.2 P40121 CAPG_HUMAN capping protein (actin filament), gelsolin-like 340 barbed-end actin filament capping|protein complex assembly F-actin capping protein complex|melanosome|nuclear membrane|nucleolus actin binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6) 11 AAAATTGCTTGAAGATGGGAC 0.597000 5 48 0 0 1 0 0 PPFIA3 8541 broad.mit.edu 37 19 49631242 49631242 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:49631242G>A ENST00000334186.4 + 2 461 c.112G>A c.(112-114)Gag>Aag p.E38K PPFIA3_ENST00000602351.1_Missense_Mutation_p.E38K NM_003660.2 NP_003651.1 O75145 LIPA3_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 38 cell surface|cytoplasm protein binding NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1) 35 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) GATGCTCACGGAGCGCGAGCG 0.726000 21 46 0 0 1 0 0 GRB7 2886 broad.mit.edu 37 17 37901234 37901234 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:37901234C>T ENST00000309156.4 + 9 1265 c.1008C>T c.(1006-1008)ttC>ttT p.F336F GRB7_ENST00000394204.1_Silent_p.F336F|GRB7_ENST00000394211.3_Silent_p.F336F|GRB7_ENST00000445327.2_Silent_p.F359F|GRB7_ENST00000309185.3_Silent_p.F336F|GRB7_ENST00000394209.2_Silent_p.F336F NM_005310.3 NP_005301.2 Q14451 GRB7_HUMAN growth factor receptor-bound protein 7 336 PH. blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly cytosol|focal adhesion|stress granule phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) TCCGCCTCTTCAAGGTGAGAC 0.617000 9 18 0 0 1 0 0 CHID1 66005 broad.mit.edu 37 11 884097 884097 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:884097G>A ENST00000449825.1 - 9 1130 c.774C>T c.(772-774)ctC>ctT p.L258L CHID1_ENST00000526714.1_Intron|CHID1_ENST00000528581.1_Silent_p.L283L|CHID1_ENST00000323578.8_Silent_p.L258L|CHID1_ENST00000323541.7_Silent_p.L288L|CHID1_ENST00000336845.5_Silent_p.L283L|CHID1_ENST00000454838.2_Silent_p.L283L|CHID1_ENST00000436108.2_Silent_p.L258L|CHID1_ENST00000429789.2_Silent_p.L227L NM_001142675.1 NP_001136147.1 Q9BWS9 CHID1_HUMAN chitinase domain containing 1 258 chitin catabolic process|innate immune response extracellular region|lysosome cation binding|chitinase activity endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 13 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735) CGTAGGTCATGAGGCTGAAAC 0.602000 16 54 0 0 1 0 0 NDUFB6 4712 broad.mit.edu 37 9 32572968 32572968 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:32572968G>A ENST00000379847.3 - 1 192 c.91C>T c.(91-93)Cgg>Tgg p.R31W NDUFB6_ENST00000350021.2_Missense_Mutation_p.R31W NM_002493.4 NP_002484.1 O95139 NDUB6_HUMAN NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa 31 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity p.R31G(1) endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1) 8 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00199) NADH(DB00157) ACCGGCTCCCGAGGGCTCAGC 0.562000 OREG0019131 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 55 0 0 1 0 0 MYOM3 127294 broad.mit.edu 37 1 24409086 24409086 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:24409086G>C ENST00000330966.7 - 17 2254 c.2092C>G c.(2092-2094)Ctg>Gtg p.L698V RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000329601.7_Missense_Mutation_p.L697V|MYOM3_ENST00000374434.3_Missense_Mutation_p.L697V|RP11-293P20.4_ENST00000429191.1_RNA Q5VTT5 MYOM3_HUMAN myomesin 3 697 NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) GACTCACCCAGAGCCTGCTTG 0.642000 14 53 0 0 1 0 0 LIN7B 64130 broad.mit.edu 37 19 49619676 49619676 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:49619676G>A ENST00000221459.2 + 4 429 c.385G>A c.(385-387)Gac>Aac p.D129N LIN7B_ENST00000391864.3_Intron NM_022165.2 NP_071448.1 Q9HAP6 LIN7B_HUMAN lin-7 homolog B (C. elegans) 129 PDZ. exocytosis|protein transport basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein domain specific binding central_nervous_system(1)|endometrium(1)|prostate(1) 3 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;5e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000191)|GBM - Glioblastoma multiforme(486;0.00449)|Epithelial(262;0.01) GGGTGTGGCTGACCGCCATGG 0.597000 27 42 0 0 1 0 0 CASC1 55259 broad.mit.edu 37 12 25261687 25261687 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr12:25261687C>G ENST00000395990.2 - 17 2083 c.1826G>C c.(1825-1827)aGa>aCa p.R609T CASC1_ENST00000545133.1_Missense_Mutation_p.R590T|CASC1_ENST00000354189.5_3'UTR|CASC1_ENST00000537577.1_3'UTR|CASC1_ENST00000320267.9_Missense_Mutation_p.R649T|CASC1_ENST00000395987.3_Missense_Mutation_p.R655T NM_001204102.1 NP_001191031 Q6TDU7 CASC1_HUMAN cancer susceptibility candidate 1 649 breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11) OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13) TCTTTGTGCTCTGTCACCACT 0.368000 9 40 0 0 1 0 0 ACTR1A 10121 broad.mit.edu 37 10 104240641 104240641 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr10:104240641G>A ENST00000369905.4 - 11 1173 c.1110C>T c.(1108-1110)tcC>tcT p.S370S ACTR1A_ENST00000446605.2_Silent_p.S323S|ACTR1A_ENST00000470322.1_5'UTR|ACTR1A_ENST00000545684.1_Silent_p.S296S|ACTR1A_ENST00000487599.1_3'UTR NM_005736.3 NP_005727.1 P61163 ACTZ_HUMAN ARP1 actin-related protein 1 homolog A, centractin alpha (yeast) 370 G2/M transition of mitotic cell cycle|vesicle-mediated transport centrosome|cytosol|dynactin complex ATP binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1) 13 Colorectal(252;0.122) Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222) TTCTGTGGATGGATCGGGCAC 0.493000 28 31 0 0 1 0 0 JTB 10899 broad.mit.edu 37 1 153949189 153949189 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:153949189G>A ENST00000271843.4 - 3 619 c.184C>T c.(184-186)Cca>Tca p.P62S JTB_ENST00000356648.1_Missense_Mutation_p.P33S|JTB_ENST00000368589.1_Missense_Mutation_p.P33S|JTB_ENST00000471173.1_5'UTR NM_006694.3 NP_006685.1 O76095 JTB_HUMAN jumping translocation breakpoint 62 apoptosis|cell cycle cytokinesis|mitosis|positive regulation of protein kinase activity integral to plasma membrane|membrane fraction|microtubule organizing center|midbody|mitochondrion|spindle protein kinase binding endometrium(1)|kidney(1)|large_intestine(2)|lung(6) 10 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) TTAGAGCATGGAGAGCACTCT 0.423000 24 81 0 0 1 0 0 GGT6 124975 broad.mit.edu 37 17 4463722 4463722 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:4463722G>A ENST00000301395.3 - 1 154 c.95C>T c.(94-96)tCa>tTa p.S32L GGT6_ENST00000381550.3_Missense_Mutation_p.S32L|GGT6_ENST00000574154.1_Missense_Mutation_p.S32L NM_153338.2 NP_699169.2 Q6P531 GGT6_HUMAN gamma-glutamyltransferase 6 32 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 CAGCGCCTCTGATGTCTCCTC 0.627000 51 30 0 0 1 0 0 PTPN14 5784 broad.mit.edu 37 1 214551305 214551305 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:214551305C>T ENST00000366956.5 - 14 2879 c.2685G>A c.(2683-2685)gaG>gaA p.E895E PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 895 lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) CACTTACCCTCTCGTCCATGG 0.537000 14 87 0 0 1 0 0 RPL15 6138 broad.mit.edu 37 3 23959451 23959451 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:23959451C>T ENST00000307839.5 + 2 740 c.101C>T c.(100-102)tCt>tTt p.S34F RPL15_ENST00000415719.1_Missense_Mutation_p.S34F|RPL15_ENST00000413699.1_Missense_Mutation_p.S34F|RPL15_ENST00000456530.2_Missense_Mutation_p.S34F|RPL15_ENST00000354811.5_Missense_Mutation_p.S34F|RPL15_ENST00000435882.1_Missense_Mutation_p.S34F|NKIRAS1_ENST00000421515.2_Intron NM_001253379.1|NM_001253380.1|NM_002948.3 NP_001240308.1|NP_001240309.1|NP_002939.2 P61313 RL15_HUMAN ribosomal protein L15 34 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|ribosome RNA binding|structural constituent of ribosome endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1) 7 CGCCAGCTCTCTGCTCTCCAC 0.587000 24 43 0 0 1 0 0 DNAJC9 23234 broad.mit.edu 37 10 75006494 75006494 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr10:75006494G>A ENST00000372950.4 - 2 1945 c.273C>T c.(271-273)ctC>ctT p.L91L NM_015190.3 NP_056005.1 Q8WXX5 DNJC9_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 9 91 protein folding heat shock protein binding|unfolded protein binding endometrium(2)|kidney(1)|large_intestine(2)|stomach(1) 6 Prostate(51;0.0119) GGTCTTGGGTGAGCACAGGAG 0.493000 25 40 0 0 1 0 0 FAM212B 55924 broad.mit.edu 37 1 112281840 112281840 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:112281840C>T ENST00000357260.5 - 1 206 c.25G>A c.(25-27)Gac>Aac p.D9N FAM212B_ENST00000534365.1_Missense_Mutation_p.D9N|FAM212B_ENST00000444059.2_Intron NM_019099.4 NP_061972.1 Q9NTI7 CA183_HUMAN family with sequence similarity 212, member B 9 cervix(1)|endometrium(1) 2 AGATAGCAGTCCATTTCCCTG 0.662000 18 29 0 0 1 0 0 MAPK13 5603 broad.mit.edu 37 6 36106813 36106813 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:36106813C>T ENST00000211287.4 + 11 1261 c.999C>T c.(997-999)ctC>ctT p.L333L MAPK13_ENST00000373766.5_3'UTR|MAPK13_ENST00000373761.6_Silent_p.L323L|MAPK13_ENST00000373759.1_3'UTR NM_002754.4 NP_002745.1 O15264 MK13_HUMAN mitogen-activated protein kinase 13 333 cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress ATP binding|MAP kinase activity|protein binding breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1) 12 ACGAGAAACTCACAGTGGATG 0.587000 7 30 0 0 1 0 0 ORMDL3 94103 broad.mit.edu 37 17 38080295 38080295 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:38080295G>A ENST00000394169.1 - 4 1656 c.162C>T c.(160-162)ctC>ctT p.L54L ORMDL3_ENST00000579695.1_Silent_p.L54L|ORMDL3_ENST00000304046.2_Silent_p.L54L|ORMDL3_ENST00000584220.1_Intron Q8N138 ORML3_HUMAN ORM1-like 3 (S. cerevisiae) 54 ceramide metabolic process integral to membrane|SPOTS complex protein binding endometrium(3)|kidney(1)|lung(1) 5 Colorectal(19;0.000442) Lung(15;0.0234) TGTTGTGAATGAGGTTGGTGA 0.627000 7 24 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144942583 144942583 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr8:144942583G>A ENST00000525985.1 - 2 4910 c.4839C>T c.(4837-4839)ttC>ttT p.F1613F P58107 EPIPL_HUMAN epiplakin 1 1613 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GGTCGATGATGAAGCCGGTAG 0.627000 23 39 0 0 1 0 0 TACSTD2 4070 broad.mit.edu 37 1 59042553 59042553 + Silent SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:59042553C>G ENST00000371225.2 - 1 613 c.276G>C c.(274-276)ccG>ccC p.P92P NM_002353.2 NP_002344.2 P09758 TACD2_HUMAN tumor-associated calcium signal transducer 2 92 Thyroglobulin type-1. cell proliferation|cell surface receptor linked signaling pathway|visual perception cytosol|integral to plasma membrane receptor activity all_cancers(7;6.54e-05) CGTGCTCACTCGGCCGCACCA 0.687000 5 5 0 0 1 0 0 CLSTN3 9746 broad.mit.edu 37 12 7310217 7310217 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr12:7310217C>T ENST00000537408.1 + 16 3234 c.2696C>T c.(2695-2697)tCc>tTc p.S899F CLSTN3_ENST00000266546.6_Missense_Mutation_p.S887F|CLSTN3_ENST00000331148.5_3'UTR Q9BQT9 CSTN3_HUMAN calsyntenin 3 887 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1) 33 CCAGGGGCCTCCAGTGACCCC 0.647000 7 14 0 0 1 0 0 HOXB8 3218 broad.mit.edu 37 17 46690720 46690720 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:46690720G>A ENST00000239144.4 - 2 810 c.576C>T c.(574-576)atC>atT p.I192I HOXB7_ENST00000567101.2_Intron|HOXB8_ENST00000576562.1_Silent_p.I191I NM_024016.3 NP_076921.1 P17481 HXB8_HUMAN homeobox B8 192 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(8)|urinary_tract(2) 11 TCTGGAACCAGATTTTGACCT 0.507000 35 66 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50278591 50278591 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr18:50278591G>A ENST00000442544.2 + 2 875 c.259G>A c.(259-261)Gaa>Aaa p.E87K DCC_ENST00000412726.1_5'UTR NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 87 Ig-like C2-type 1. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) GGGAATGGATGAAAGGAAGCA 0.498000 23 56 0 0 1 0 0 TRIM6 117854 broad.mit.edu 37 11 5625815 5625815 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:5625815G>A ENST00000380097.3 + 3 801 c.559G>A c.(559-561)Gag>Aag p.E187K TRIM6_ENST00000278302.5_Missense_Mutation_p.E159K|HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.E187K|TRIM6_ENST00000515022.1_Intron|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000380107.1_Missense_Mutation_p.E133K|TRIM6_ENST00000507320.1_5'UTR|TRIM6_ENST00000506134.1_5'UTR|TRIM6_ENST00000445329.1_5'UTR NM_001003818.2|NM_001198644.1|NM_001198645.1 NP_001003818.1|NP_001185573.1|NP_001185574.1 tripartite motif containing 6 breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1) 22 Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212) Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192) GCAGGAAGCTGAGAAGCTAAC 0.458000 73 47 0 0 1 0 0 DLG5 9231 broad.mit.edu 37 10 79686097 79686097 + Nonsense_Mutation SNP A A T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr10:79686097A>T ENST00000372391.2 - 1 187 c.182T>A c.(181-183)tTg>tAg p.L61* DLG5_ENST00000372388.2_Nonsense_Mutation_p.L61* NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 61 cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) CTCCTTGGCCAAGAGCAGCTT 0.716000 5 4 0 0 1 0 0 LRRC37B 114659 broad.mit.edu 37 17 30357710 30357710 + Missense_Mutation SNP G G T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:30357710G>T ENST00000327564.7 + 4 2001 c.1940G>T c.(1939-1941)aGa>aTa p.R647I LRRC37B_ENST00000584368.1_Intron|LRRC37B_ENST00000394713.3_Intron|LRRC37B_ENST00000341671.7_Missense_Mutation_p.R620I|LRRC37B_ENST00000543378.2_Missense_Mutation_p.R538I Q96QE4 LR37B_HUMAN leucine rich repeat containing 37B 620 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 29 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244) TATATTGAAAGACAAACATTT 0.244000 3 22 0.115264 0.115507 1 1 0 TBC1D7 51256 broad.mit.edu 37 6 13307930 13307930 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:13307930C>T ENST00000607658.1 - 5 636 c.486G>A c.(484-486)ctG>ctA p.L162L TBC1D7_ENST00000607532.1_5'UTR|TBC1D7_ENST00000343141.4_Silent_p.L143L|TBC1D7_ENST00000379307.2_Silent_p.L162L|TBC1D7_ENST00000356436.4_Silent_p.L189L|TBC1D7_ENST00000379300.3_Silent_p.L189L Q9P0N9 TBCD7_HUMAN TBC1 domain family, member 7 189 Rab-GAP TBC. positive regulation of protein ubiquitination cytoplasmic membrane-bounded vesicle protein binding|Rab GTPase activator activity breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1) 22 Breast(50;0.0296)|Ovarian(93;0.0339) all_hematologic(90;0.135) Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21) TCAGATGAGTCAGCAGTCTGC 0.438000 14 50 0 0 1 0 0 OR7G2 390882 broad.mit.edu 37 19 9213242 9213242 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:9213242C>G ENST00000305456.2 - 1 740 c.741G>C c.(739-741)ttG>ttC p.L247F NM_001005193.1 NP_001005193.1 Q8NG99 OR7G2_HUMAN olfactory receptor, family 7, subfamily G, member 2 226 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3) 16 ATGGCATTCTCAAAACACAGG 0.443000 30 65 0 0 1 0 0 ATAD5 79915 broad.mit.edu 37 17 29162548 29162548 + Missense_Mutation SNP G G T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:29162548G>T ENST00000321990.4 + 2 1827 c.1449G>T c.(1447-1449)aaG>aaT p.K483N CTD-2349P21.11_ENST00000580873.1_RNA NM_024857.3 NP_079133.3 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 483 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1) 51 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) AGAAGAATAAGAAAACATTAG 0.313000 20 67 4.35082e-09 4.45055e-09 1 1 0 ZNF560 147741 broad.mit.edu 37 19 9583855 9583855 + Splice_Site SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:9583855C>T ENST00000301480.4 - 5 451 c.238G>A c.(238-240)Gac>Aac p.D80N NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 80 KRAB 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 AAATACTCACCTTGGAGAACT 0.398000 51 117 0 0 1 0 0 CFB 629 broad.mit.edu 37 6 31919196 31919196 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:31919196C>G ENST00000456570.1 + 28 3596 c.3541C>G c.(3541-3543)Cgg>Ggg p.R1181G CFB_ENST00000425368.2_Missense_Mutation_p.R679G|CFB_ENST00000477310.1_Missense_Mutation_p.R1030G|CFB_ENST00000556679.1_Missense_Mutation_p.R1181G P00751 CFAB_HUMAN complement factor B 679 complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 GGTCACCCCTCGGTTCCTTTG 0.527000 30 53 0 0 1 0 0 ERBB2IP 55914 broad.mit.edu 37 5 65288637 65288637 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr5:65288637C>T ENST00000284037.5 + 3 480 c.91C>T c.(91-93)Cat>Tat p.H31Y ERBB2IP_ENST00000511297.1_Missense_Mutation_p.H31Y|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.H31Y|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.H31Y|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.H31Y|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.H31Y|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.H31Y|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.H31Y|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.H31Y|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.H31Y NM_001253697.1 NP_001240626.1 Q96RT1 LAP2_HUMAN erbb2 interacting protein 31 basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2) 36 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) TGATTATTCTCATTGCAGCTT 0.393000 23 62 0 0 1 0 0 HSPA6 3310 broad.mit.edu 37 1 161496076 161496076 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:161496076C>T ENST00000309758.4 + 1 2041 c.1628C>T c.(1627-1629)tCg>tTg p.S543L RP11-25K21.6_ENST00000537821.2_RNA NM_002155.3 NP_002146.2 P17066 HSP76_HUMAN heat shock 70kDa protein 6 (HSP70B') 543 response to unfolded protein ATP binding endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2) 21 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) GCCAAAAACTCGCTGGAGGCC 0.547000 8 16 0 0 1 0 0 PARD3 56288 broad.mit.edu 37 10 34558670 34558670 + Nonsense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr10:34558670G>A ENST00000374789.3 - 22 3668 c.3343C>T c.(3343-3345)Cag>Tag p.Q1115* PARD3_ENST00000545260.1_Nonsense_Mutation_p.Q1025*|PARD3_ENST00000346874.4_Nonsense_Mutation_p.Q1078*|PARD3_ENST00000350537.4_Nonsense_Mutation_p.Q1069*|PARD3_ENST00000374790.3_Nonsense_Mutation_p.Q1055*|PARD3_ENST00000374788.3_Nonsense_Mutation_p.Q1112*|PARD3_ENST00000545693.1_Nonsense_Mutation_p.Q1099*|PARD3_ENST00000374794.3_Nonsense_Mutation_p.Q1003* NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 1115 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) CGTGGGCTCTGAGGTCTAGCG 0.488000 18 36 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38746215 38746215 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:38746215C>G ENST00000359357.3 + 12 1617 c.1363C>G c.(1363-1365)Cag>Gag p.Q455E DNAH8_ENST00000449981.2_Missense_Mutation_p.Q672E|DNAH8_ENST00000441566.1_Missense_Mutation_p.Q455E dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 CTTATCTTCTCAGCAGGCTCT 0.294000 13 40 0 0 1 0 0 GFM2 84340 broad.mit.edu 37 5 74018260 74018260 + Nonsense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr5:74018260G>A ENST00000296805.3 - 20 2612 c.2155C>T c.(2155-2157)Cag>Tag p.Q719* GFM2_ENST00000509430.1_Nonsense_Mutation_p.Q719*|GFM2_ENST00000345239.2_Nonsense_Mutation_p.Q672*|GFM2_ENST00000515125.1_5'UTR NM_032380.3 NP_115756.2 Q969S9 RRF2M_HUMAN G elongation factor, mitochondrial 2 719 mitochondrial translation|ribosome disassembly mitochondrion GTP binding|GTPase activity breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1) 14 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231) OV - Ovarian serous cystadenocarcinoma(47;1.86e-56) TGGCGAGTCTGAATTTCCTGA 0.398000 30 49 0 0 1 0 0 IRF2BP1 26145 broad.mit.edu 37 19 46387734 46387734 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:46387734C>T ENST00000302165.3 - 1 1642 c.1299G>A c.(1297-1299)ctG>ctA p.L433L NM_015649.1 NP_056464.1 Q8IU81 I2BP1_HUMAN interferon regulatory factor 2 binding protein 1 433 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus cervix(1)|kidney(1)|lung(2) 4 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231) GTGAGTGGCCCAGGGCTTCGG 0.726000 20 24 0 0 1 0 0 GGH 8836 broad.mit.edu 37 8 63951279 63951279 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr8:63951279C>G ENST00000260118.6 - 1 451 c.49G>C c.(49-51)Ggg>Cgg p.G17R NM_003878.2 NP_003869.1 Q92820 GGH_HUMAN gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase) 17 glutamine metabolic process extracellular space|lysosome|melanosome gamma-glutamyl-peptidase activity breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1) 11 Breast(64;0.0716) all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131) Folic Acid(DB00158)|L-Glutamic Acid(DB00142) CTCGCCGCCCCGCAGAGTAGC 0.721000 8 23 0 0 1 0 0 OR1L4 254973 broad.mit.edu 37 9 125487147 125487147 + Silent SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:125487147G>C ENST00000259466.1 + 1 879 c.879G>C c.(877-879)ctG>ctC p.L293L NM_001005235.1 NP_001005235.1 Q8NGR5 OR1L4_HUMAN olfactory receptor, family 1, subfamily L, member 4 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1) 20 TCTACAGCCTGAGGAACAAAG 0.413000 11 35 0 0 1 0 0 ICA1 3382 broad.mit.edu 37 7 8153608 8153608 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr7:8153608G>A ENST00000402384.3 - 14 1663 c.1397C>T c.(1396-1398)tCa>tTa p.S466L ICA1_ENST00000406470.2_Missense_Mutation_p.S466L|ICA1_ENST00000422063.2_Missense_Mutation_p.S495L|ICA1_ENST00000265577.7_Missense_Mutation_p.S465L|ICA1_ENST00000396675.3_Missense_Mutation_p.S466L|ICA1_ENST00000401396.1_Missense_Mutation_p.S454L Q05084 ICA69_HUMAN islet cell autoantigen 1, 69kDa 466 neurotransmitter transport cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1) 23 Ovarian(82;0.0612) UCEC - Uterine corpus endometrioid carcinoma (126;0.246) ATCAGGATTTGAGAGTGGGTC 0.542000 58 53 0 0 1 0 0 KIAA1522 57648 broad.mit.edu 37 1 33233522 33233522 + Nonsense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:33233522C>T ENST00000401073.2 + 2 440 c.370C>T c.(370-372)Cag>Tag p.Q124* KIAA1522_ENST00000373480.1_Nonsense_Mutation_p.Q65*|KIAA1522_ENST00000294521.3_Nonsense_Mutation_p.Q65*|KIAA1522_ENST00000373481.3_Nonsense_Mutation_p.Q76* NM_020888.2 NP_065939.2 Q9P206 K1522_HUMAN KIAA1522 65 breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) GCTGCACACTCAGGCCCAGGA 0.637000 21 61 0 0 1 0 0 SOGA2 23255 broad.mit.edu 37 18 8793080 8793080 + Nonsense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr18:8793080C>T ENST00000359865.3 + 8 2114 c.1972C>T c.(1972-1974)Caa>Taa p.Q658* SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000400050.3_Intron|SOGA2_ENST00000306329.11_Intron|SOGA2_ENST00000517570.1_Intron NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 980 CAGACTGCATCAAGAGGAGAC 0.507000 45 143 0 0 1 0 0 RPL13 6137 broad.mit.edu 37 16 89628134 89628134 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:89628134C>T ENST00000393099.3 + 3 644 c.395C>T c.(394-396)tCg>tTg p.S132L RPL13_ENST00000311528.5_Missense_Mutation_p.S132L|RPL13_ENST00000452368.3_Intron|RPL13_ENST00000567815.1_Missense_Mutation_p.S132L NM_033251.2 NP_150254.1 P26373 RL13_HUMAN ribosomal protein L13 132 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic ribosome protein binding|RNA binding|structural constituent of ribosome lung(3)|skin(1)|upper_aerodigestive_tract(2) 6 all_hematologic(23;0.0748) all cancers(4;1.15e-07)|OV - Ovarian serous cystadenocarcinoma(4;7.8e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0139) AGGAAGCCCTCGGCCCCCAAG 0.622000 12 28 0 0 1 0 0 C1orf56 54964 broad.mit.edu 37 1 151020668 151020668 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:151020668C>T ENST00000368926.5 + 1 453 c.345C>T c.(343-345)gcC>gcT p.A115A NM_017860.3 NP_060330.2 Q9BUN1 CA056_HUMAN chromosome 1 open reading frame 56 115 extracellular region endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1) 7 Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) TGATTAATGCCGGAAAGGATA 0.567000 19 61 0 0 1 0 0 FAM86A 196483 broad.mit.edu 37 16 5140234 5140234 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:5140234C>T ENST00000427587.4 - 6 661 c.593G>A c.(592-594)cGa>cAa p.R198Q FAM86A_ENST00000587133.1_Missense_Mutation_p.R137Q|FAM86A_ENST00000458008.4_Missense_Mutation_p.R164Q NM_201400.2 NP_958802.1 Q96G04 FA86A_HUMAN family with sequence similarity 86, member A 198 endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2) 12 GACATTCCCTCGGAGCTGCTC 0.617000 26 56 0 0 1 0 0 B2M 567 broad.mit.edu 37 15 45003745 45003745 + Translation_Start_Site SNP A A C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr15:45003745A>C ENST00000558401.1 + 1 71 c.1A>C c.(1-3)Atg>Ctg p.M1L B2M_ENST00000559916.1_Start_Codon_SNP_p.M1L|B2M_ENST00000544417.1_Start_Codon_SNP_p.M1L NM_004048.2 NP_004039.1 P61769 B2MG_HUMAN beta-2-microglobulin 1 antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction early endosome membrane|Golgi membrane|MHC class I protein complex protein binding p.M1L(3)|p.M1V(2)|p.?(1) breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1) 59 all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192) TCGGGCCGAGATGTCTCGCTC 0.612000 24 27 0 0 1 0 0 DMBX1 127343 broad.mit.edu 37 1 46972801 46972801 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:46972801C>T ENST00000371956.4 + 1 134 c.119C>T c.(118-120)tCa>tTa p.S40L DMBX1_ENST00000360032.3_Missense_Mutation_p.S40L NM_147192.2 NP_671725.1 Q8NFW5 DMBX1_HUMAN diencephalon/mesencephalon homeobox 1 40 Interacts with OXT2 and is required for repressor activity (By similarity). brain development|developmental growth|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) TACCGGCCTTCAGTGCATGCG 0.632000 4 59 0 0 1 0 0 NMI 9111 broad.mit.edu 37 2 152127335 152127335 + Nonsense_Mutation SNP G G A rs146399920 TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:152127335G>A ENST00000243346.5 - 8 1266 c.796C>T c.(796-798)Caa>Taa p.Q266* NM_004688.2 NP_004679.2 Q13287 NMI_HUMAN N-myc (and STAT) interactor 266 inflammatory response|JAK-STAT cascade|transcription from RNA polymerase II promoter cytoplasm|nucleus nucleotide binding|protein binding|transcription cofactor activity endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 BRCA - Breast invasive adenocarcinoma(221;0.0571) TCATCCATTTGAATGCCTTCC 0.368000 30 12 0 0 1 0 0 PDE4A 5141 broad.mit.edu 37 19 10541684 10541684 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:10541684C>T ENST00000293683.5 + 1 164 c.164C>T c.(163-165)cCg>cTg p.P55L PDE4A_ENST00000352831.6_Intron|PDE4A_ENST00000380702.2_Intron|PDE4A_ENST00000592685.1_Intron NM_001111308.1 NP_001104778.1 P27815 PDE4A_HUMAN phosphodiesterase 4A, cAMP-specific 331 signal transduction cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06) Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277) ttcgccagcccgtccccAACT 0.741000 5 7 0 0 1 0 0 TCF25 22980 broad.mit.edu 37 16 89967141 89967141 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:89967141G>C ENST00000263346.8 + 12 1376 c.1320G>C c.(1318-1320)caG>caC p.Q440H TCF25_ENST00000263347.7_Missense_Mutation_p.Q205H NM_014972.2 NP_055787.1 Q9BQ70 TCF25_HUMAN transcription factor 25 (basic helix-loop-helix) 440 heart development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2) 18 all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027) BRCA - Breast invasive adenocarcinoma(80;0.0288) AGTGTGAGCAGAGCTCTGCCA 0.587000 22 35 0 0 1 0 0 KIF19 124602 broad.mit.edu 37 17 72350302 72350302 + Splice_Site SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:72350302G>C ENST00000389916.4 + 18 2448 c.2310G>C c.(2308-2310)gaG>gaC p.E770D NM_153209.3 NP_694941.2 Q2TAC6 KIF19_HUMAN kinesin family member 19 770 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 41 CCGCTGCAGAGAGGAAGGAGA 0.662000 34 133 0 0 1 0 0 GNAT2 2780 broad.mit.edu 37 1 110146084 110146084 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:110146084G>C ENST00000351050.3 - 8 1143 c.957C>G c.(955-957)atC>atG p.I319M NM_005272.3 NP_005263.1 P19087 GNAT2_HUMAN guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 319 detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane G-protein beta/gamma-subunit complex binding|G-protein coupled photoreceptor activity|G-protein-coupled receptor binding|GTP binding|GTPase activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 14 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227) TGTGACTGTAGATTTCTTTGA 0.393000 13 23 0 0 1 0 0 ARHGAP27 201176 broad.mit.edu 37 17 43481021 43481021 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:43481021G>A ENST00000532038.1 - 7 1071 c.936C>T c.(934-936)ttC>ttT p.F312F ARHGAP27_ENST00000455881.1_Silent_p.F193F|ARHGAP27_ENST00000532891.2_Silent_p.F512F|ARHGAP27_ENST00000582826.1_5'UTR|ARHGAP27_ENST00000528384.1_Silent_p.F166F|ARHGAP27_ENST00000428638.1_Silent_p.F534F|ARHGAP27_ENST00000376922.2_Silent_p.F193F|ARHGAP27_ENST00000442348.1_Silent_p.F507F Q6ZUM4 RHG27_HUMAN Rho GTPase activating protein 27 534 WW 2. positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction cytoplasm|membrane Rac GTPase activator activity|SH3 domain binding endometrium(4)|large_intestine(9)|lung(3)|skin(1) 17 Renal(3;0.0405) AGTCCTTGAAGAATGTCAGGA 0.542000 42 66 0 0 1 0 0 PUM1 9698 broad.mit.edu 37 1 31532158 31532158 + Nonsense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:31532158G>A ENST00000373747.3 - 2 355 c.256C>T c.(256-258)Cag>Tag p.Q86* PUM1_ENST00000424085.2_Nonsense_Mutation_p.Q86*|PUM1_ENST00000373741.4_Nonsense_Mutation_p.Q122*|PUM1_ENST00000257075.5_Nonsense_Mutation_p.Q86*|PUM1_ENST00000440538.2_Nonsense_Mutation_p.Q86*|PUM1_ENST00000373742.2_Nonsense_Mutation_p.Q122*|PUM1_ENST00000426105.2_Nonsense_Mutation_p.Q86*|PUM1_ENST00000423018.2_Nonsense_Mutation_p.Q86* NM_001020658.1 NP_001018494.1 Q14671 PUM1_HUMAN pumilio RNA-binding family member 1 86 cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) TGCTGCCTCTGAAAGAAGTAG 0.537000 45 71 0 0 1 0 0 AXL 558 broad.mit.edu 37 19 41748804 41748804 + Silent SNP T T G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:41748804T>G ENST00000301178.4 + 11 1519 c.1329T>G c.(1327-1329)acT>acG p.T443T AXL_ENST00000593513.1_Silent_p.T175T|AXL_ENST00000359092.3_Silent_p.T434T NM_001278599.1|NM_021913.3 NP_001265528.1|NP_068713 P30530 UFO_HUMAN AXL receptor tyrosine kinase 443 integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 48 AACCTTCAACTCCTGCCTTCT 0.572000 43 82 0 0 1 0 0 ARHGAP31 57514 broad.mit.edu 37 3 119121232 119121232 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:119121232G>C ENST00000264245.4 + 10 2165 c.1633G>C c.(1633-1635)Gag>Cag p.E545Q NM_020754.2 NP_065805.2 Q2M1Z3 RHG31_HUMAN Rho GTPase activating protein 31 545 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 67 GCTGGGAGCTGAGACTTCTGC 0.493000 19 43 0 0 1 0 0 IPO7 10527 broad.mit.edu 37 11 9431602 9431602 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:9431602C>T ENST00000379719.3 + 4 590 c.448C>T c.(448-450)Ctt>Ttt p.L150F NM_006391.2 NP_006382.1 O95373 IPO7_HUMAN importin 7 150 interspecies interaction between organisms|signal transduction Golgi apparatus|nuclear pore|soluble fraction protein transporter activity|Ran GTPase binding|small GTPase regulator activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217) AGGAATTCTTCTTTGCCTTTA 0.373000 30 36 0 0 1 0 0 ZNF611 81856 broad.mit.edu 37 19 53209265 53209265 + Missense_Mutation SNP C C A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:53209265C>A ENST00000543227.1 - 6 1317 c.1043G>T c.(1042-1044)tGt>tTt p.C348F ZNF611_ENST00000540744.1_Missense_Mutation_p.C348F|ZNF611_ENST00000595798.1_Missense_Mutation_p.C279F|ZNF611_ENST00000602162.1_Missense_Mutation_p.C279F|ZNF611_ENST00000319783.1_Missense_Mutation_p.C348F|ZNF611_ENST00000453741.2_Missense_Mutation_p.C279F NM_001161499.1 NP_001154971.1 Q8N823 ZN611_HUMAN zinc finger protein 611 348 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04) AGCCTTGTCACATTCATTACA 0.348000 48 55 4.64027e-19 4.82615e-19 1 1 0 PRMT5 10419 broad.mit.edu 37 14 23391415 23391415 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr14:23391415G>A ENST00000324366.8 - 16 1954 c.1731C>T c.(1729-1731)ttC>ttT p.F577F PRMT5_ENST00000397440.4_Silent_p.F406F|PRMT5_ENST00000216350.8_Silent_p.F516F|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5-AS1_ENST00000424245.2_RNA|PRMT5-AS1_ENST00000609885.1_RNA|PRMT5_ENST00000553897.1_Silent_p.F533F|PRMT5-AS1_ENST00000457443.2_RNA|PRMT5_ENST00000538452.1_Silent_p.F471F|PRMT5_ENST00000397441.2_Silent_p.F560F|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5-AS1_ENST00000599580.2_RNA NM_006109.3 NP_006100.2 O14744 ANM5_HUMAN protein arginine methyltransferase 5 577 cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 25 all_cancers(95;2.76e-05) GBM - Glioblastoma multiforme(265;0.0126) GAAACCATGAGAACATCCCAG 0.443000 49 119 0 0 1 0 0 NEO1 4756 broad.mit.edu 37 15 73418865 73418865 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr15:73418865C>G ENST00000339362.5 + 5 1279 c.832C>G c.(832-834)Cca>Gca p.P278A NEO1_ENST00000560262.1_Missense_Mutation_p.P278A|NEO1_ENST00000261908.6_Missense_Mutation_p.P278A|NEO1_ENST00000558964.1_Missense_Mutation_p.P278A Q92859 NEO1_HUMAN neogenin 1 278 Ig-like C2-type 3. axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 57 ACTTCCTACTCCAACCATTAA 0.428000 13 42 0 0 1 0 0 GNAI2 2771 broad.mit.edu 37 3 50290516 50290516 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:50290516G>C ENST00000313601.6 + 4 748 c.364G>C c.(364-366)Gat>Cat p.D122H GNAI2_ENST00000451956.1_Missense_Mutation_p.D85H|GNAI2_ENST00000536647.1_Missense_Mutation_p.D41H|GNAI2_ENST00000440628.1_Missense_Mutation_p.D70H|GNAI2_ENST00000422163.1_Missense_Mutation_p.D106H|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000266027.5_Missense_Mutation_p.D106H NM_002070.2 NP_002061.1 P04899 GNAI2_HUMAN guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 122 adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission centrosome|heterotrimeric G-protein complex|midbody G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651) CGTGCTCCCTGATGACCTGTC 0.622000 109 164 0 0 1 0 0 BAG1 573 broad.mit.edu 37 9 33255242 33255242 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:33255242G>A ENST00000472232.3 - 7 1099 c.1013C>T c.(1012-1014)tCt>tTt p.S338F BAG1_ENST00000379704.2_Missense_Mutation_p.S223F|BAG1_ENST00000467389.2_5'UTR NM_001172415.1|NM_004323.5 NP_001165886.1|NP_004314 Q99933 BAG1_HUMAN BCL2-associated athanogene 338 Interaction with PPP1R15A. anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|chaperone cofactor-dependent protein refolding cytoplasm|intermediate filament cytoskeleton|nucleus protein binding|receptor signaling protein activity endometrium(1)|large_intestine(3)|lung(3)|ovary(1) 8 LUSC - Lung squamous cell carcinoma(29;0.00506) AAAGTTTGTAGACTGCAGCCG 0.562000 42 81 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56418128 56418128 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:56418128C>T ENST00000370754.5 - 61 15368 c.15369G>A c.(15367-15369)gtG>gtA p.V5123V DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Silent_p.V2857V|DST_ENST00000244364.6_Silent_p.V2531V|DST_ENST00000446842.2_Silent_p.V4619V|DST_ENST00000370769.4_Silent_p.V4945V|DST_ENST00000421834.2_Silent_p.V2857V|DST_ENST00000361203.3_Silent_p.V4943V Q03001 DYST_HUMAN dystonin 4943 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CTCTTTCTTTCACCTGCTTAT 0.353000 24 47 0 0 1 0 0 ZNF22 7570 broad.mit.edu 37 10 45499096 45499096 + Nonsense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr10:45499096C>T ENST00000298299.3 + 2 873 c.280C>T c.(280-282)Cag>Tag p.Q94* CEP164P1_ENST00000456938.2_RNA NM_006963.4 NP_008894.2 P17026 ZNF22_HUMAN zinc finger protein 22 94 odontogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|plasma membrane DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(2)|lung(2) 8 Prostate(175;0.0352)|all_neural(218;0.202) AAGTTTCTTTCAGAGTTCTAA 0.403000 23 40 0 0 1 0 0 EFNB1 1947 broad.mit.edu 37 X 68060482 68060482 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chrX:68060482C>T ENST00000204961.4 + 5 1806 c.1026C>T c.(1024-1026)atC>atT p.I342I NM_004429.4 NP_004420.1 P98172 EFNB1_HUMAN ephrin-B1 342 cell adhesion|cell-cell signaling integral to plasma membrane|soluble fraction|synapse ephrin receptor binding breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1) 22 CGGCGAACATCTACTACAAGG 0.642000 9 5 0 0 1 0 0 NAV2 89797 broad.mit.edu 37 11 20066680 20066680 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:20066680C>T ENST00000396085.1 + 14 3727 c.3366C>T c.(3364-3366)ttC>ttT p.F1122F NAV2_ENST00000311043.8_Silent_p.F208F|NAV2_ENST00000527559.2_Silent_p.F1074F|NAV2_ENST00000349880.4_Silent_p.F1122F|NAV2_ENST00000540292.1_Silent_p.F1076F|NAV2_ENST00000396087.3_Silent_p.F1145F|NAV2_ENST00000533917.1_Silent_p.F208F|NAV2_ENST00000360655.4_Silent_p.F1058F|NAV2-AS2_ENST00000533767.1_RNA NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 1145 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 GCTTTGGGTTCAAGAAGCAGA 0.592000 29 104 0 0 1 0 0 DDX23 9416 broad.mit.edu 37 12 49231129 49231129 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr12:49231129G>A ENST00000308025.3 - 8 880 c.801C>T c.(799-801)ctC>ctT p.L267L DDX23_ENST00000553182.1_5'UTR NM_004818.2 NP_004809.2 Q9BUQ8 DDX23_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 267 catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3) 36 TCCGGTCATTGAGATGTCTCG 0.502000 34 82 0 0 1 0 0 ANKS3 124401 broad.mit.edu 37 16 4755175 4755175 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:4755175G>A ENST00000304283.4 - 8 1083 c.789C>T c.(787-789)gtC>gtT p.V263V ANKS3_ENST00000446014.2_Silent_p.V134V|ANKS3_ENST00000450067.2_Silent_p.V57V|ANKS3_ENST00000585773.1_Silent_p.V190V NM_133450.3 NP_597707.1 Q6ZW76 ANKS3_HUMAN ankyrin repeat and sterile alpha motif domain containing 3 263 endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1) 19 CGTGGATGCTGACACCCTTCT 0.607000 24 83 0 0 1 0 0 CAMTA2 23125 broad.mit.edu 37 17 4889554 4889554 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:4889554G>A ENST00000361571.5 - 2 444 c.33C>T c.(31-33)ctC>ctT p.L11L CAMTA2_ENST00000381311.5_Intron|CAMTA2_ENST00000414043.3_Silent_p.L11L|CAMTA2_ENST00000348066.3_5'UTR|CAMTA2_ENST00000572543.1_5'UTR|CAMTA2_ENST00000358183.4_5'UTR NM_001171168.1 NP_001164639.1 O94983 CMTA2_HUMAN calmodulin binding transcription activator 2 476 cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 CCCCCGGCCTGAGGGGCCGGG 0.592000 5 26 0 0 1 0 0 ZNHIT3 9326 broad.mit.edu 37 17 34849827 34849827 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:34849827C>T ENST00000225410.4 + 4 328 c.263C>T c.(262-264)tCt>tTt p.S88F ZNHIT3_ENST00000588253.1_5'UTR|ZNHIT3_ENST00000490126.2_5'UTR|ZNHIT3_ENST00000590858.1_Intron|ZNHIT3_ENST00000592616.1_Missense_Mutation_p.S88F NM_004773.2 NP_004764.1 Q15649 ZNHI3_HUMAN zinc finger, HIT-type containing 3 88 regulation of transcription, DNA-dependent intracellular metal ion binding|thyroid hormone receptor binding lung(1)|pancreas(1)|prostate(1) 3 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0188) GACAGAGTTTCTTTGCAGAAT 0.333000 27 52 0 0 1 0 0 ERBB3 2065 broad.mit.edu 37 12 56481672 56481672 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr12:56481672C>T ENST00000267101.3 + 6 1147 c.707C>T c.(706-708)tCa>tTa p.S236L ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.S177L NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 236 cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) GGGGGCTGCTCAGGCCCTCAG 0.547000 42 128 0 0 1 0 0 ZNF608 57507 broad.mit.edu 37 5 123983168 123983168 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr5:123983168G>A ENST00000306315.5 - 4 3344 c.2909C>T c.(2908-2910)tCt>tTt p.S970F ZNF608_ENST00000504926.1_Missense_Mutation_p.S543F NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 970 Ser-rich. intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) GTCCTTACTAGAAATAATATC 0.448000 33 96 0 0 1 0 0 HSPA8 3312 broad.mit.edu 37 11 122930371 122930371 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:122930371G>A ENST00000534624.1 - 5 1206 c.930C>T c.(928-930)ttC>ttT p.F310F HSPA8_ENST00000533540.1_Silent_p.F164F|HSPA8_ENST00000532636.1_Silent_p.F310F|HSPA8_ENST00000526110.1_Silent_p.F291F|HSPA8_ENST00000534319.1_Silent_p.F74F|HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000453788.2_Silent_p.F310F|HSPA8_ENST00000227378.3_Silent_p.F310F NM_006597.4 NP_006588.1 P11142 HSP7C_HUMAN heat shock 70kDa protein 8 310 Interaction with BAG1. cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 36 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) GGGTGCCACGGAACAGGTCAG 0.488000 18 30 0 0 1 0 0 SNX29 92017 broad.mit.edu 37 16 12172724 12172724 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:12172724C>T ENST00000566228.1 + 11 1423 c.1354C>T c.(1354-1356)Ctg>Ttg p.L452L SNX29_ENST00000306030.3_Silent_p.L67L|SNX29_ENST00000323433.4_Silent_p.L67L NM_032167.3 NP_115543.3 Q8TEQ0 SNX29_HUMAN sorting nexin 29 67 cell communication phosphatidylinositol binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 7 CGGAAGTCCTCTGAGCAGCCT 0.547000 4 10 0 0 1 0 0 HOXB5 3215 broad.mit.edu 37 17 46670827 46670827 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:46670827G>A ENST00000239151.5 - 1 496 c.218C>T c.(217-219)tCg>tTg p.S73L HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000465846.2_RNA NM_002147.3 NP_002138.1 P09067 HXB5_HUMAN homeobox B5 73 nucleus sequence-specific DNA binding large_intestine(1)|lung(2) 3 GAAGGCGCGCGAGCTCTCGCC 0.682000 8 23 0 0 1 0 0 MEX3D 399664 broad.mit.edu 37 19 1567495 1567495 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:1567495G>C ENST00000402693.4 - 1 562 c.563C>G c.(562-564)tCc>tGc p.S188C MEX3D_ENST00000388824.6_Missense_Mutation_p.S188C NM_203304.3 NP_976049.3 Q86XN8 MEX3D_HUMAN mex-3 RNA binding family member D 188 KH 1. mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis nucleus|perinuclear region of cytoplasm AU-rich element binding|zinc ion binding endometrium(1)|lung(3) 4 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) 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) GACGTGCTCGGAGCTGGGCAC 0.721000 14 20 0 0 1 0 0 ZNF117 51351 broad.mit.edu 37 7 64439662 64439662 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr7:64439662G>A ENST00000282869.6 - 4 1571 c.287C>T c.(286-288)tCa>tTa p.S96L NM_015852.3 NP_056936.2 Q03924 ZN117_HUMAN zinc finger protein 117 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1) 22 Lung NSC(55;0.0295)|all_lung(88;0.0691) GTGTCTATTTGAATTTGAAAT 0.274000 12 16 0 0 1 0 0 SLC12A2 6558 broad.mit.edu 37 5 127420159 127420159 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr5:127420159C>T ENST00000262461.2 + 1 702 c.513C>T c.(511-513)ttC>ttT p.F171F SLC12A2_ENST00000343225.4_Silent_p.F171F NM_001046.2 NP_001037.1 P55011 S12A2_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 2 171 potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport integral to plasma membrane|membrane fraction ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_cancers(142;0.0972)|Prostate(80;0.151) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978) Bumetanide(DB00887)|Potassium Chloride(DB00761) ACGTGAGCTTCCAGAACGGCG 0.662000 11 19 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29628299 29628299 + Missense_Mutation SNP A A G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr20:29628299A>G ENST00000278882.3 + 6 681 c.301A>G c.(301-303)Agt>Ggt p.S101G FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AGAAGCAAAAAGTAAAACAGC 0.363000 4 99 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36874735 36874735 + Nonsense_Mutation SNP G G T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:36874735G>T ENST00000301807.6 - 21 6454 c.4557C>A c.(4555-4557)tgC>tgA p.C1519* TRANK1_ENST00000429976.2_Nonsense_Mutation_p.C2069*|TRANK1_ENST00000428977.2_Nonsense_Mutation_p.C1519* O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2069 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 AAAACTCAAAGCAAGATTTGA 0.468000 18 43 2.35188e-11 2.41618e-11 1 1 0 ITIH3 3699 broad.mit.edu 37 3 52836817 52836817 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:52836817G>A ENST00000449956.2 + 13 1710 c.1704G>A c.(1702-1704)gaG>gaA p.E568E ITIH3_ENST00000416872.2_Intron NM_002217.3 NP_002208.3 Q06033 ITIH3_HUMAN inter-alpha-trypsin inhibitor heavy chain 3 568 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 25 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) AGCTGCTGGAGAAGCGGTGAG 0.617000 20 27 0 0 1 0 0 SBF1 6305 broad.mit.edu 37 22 50893124 50893124 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr22:50893124G>A ENST00000380817.3 - 36 5043 c.4860C>T c.(4858-4860)ttC>ttT p.F1620F SBF1_ENST00000390679.3_Silent_p.F1594F|SBF1_ENST00000348911.6_Silent_p.F1595F NM_002972.2 NP_002963.2 O95248 MTMR5_HUMAN SET binding factor 1 protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 43 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;0.206)|LUAD - Lung adenocarcinoma(64;0.247) CCTCAGTGTAGAAGTCCCACA 0.662000 29 59 0 0 1 0 0 KIF3B 9371 broad.mit.edu 37 20 30898963 30898963 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr20:30898963G>A ENST00000375712.3 + 2 1550 c.1383G>A c.(1381-1383)gaG>gaA p.E461E KIF3B_ENST00000418717.2_Silent_p.E87E NM_004798.3 NP_004789.1 O15066 KIF3B_HUMAN kinesin family member 3B 461 anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) ATGCTGCCGAGATGCTGGGCG 0.502000 11 12 0 0 1 0 0 PEX3 8504 broad.mit.edu 37 6 143772190 143772190 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:143772190C>T ENST00000367591.4 + 1 74 c.11C>T c.(10-12)tCt>tTt p.S4F NM_003630.2 NP_003621.1 P56589 PEX3_HUMAN peroxisomal biogenesis factor 3 4 Targeting to peroxisomes. protein import into peroxisome membrane|transmembrane transport integral to peroxisomal membrane protein binding endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2) 18 OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117) ATGCTGAGGTCTGTATGGAAT 0.537000 45 239 0 0 1 0 0 EFHC1 114327 broad.mit.edu 37 6 52317570 52317570 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:52317570C>T ENST00000371068.5 + 4 761 c.658C>T c.(658-660)Ctt>Ttt p.L220F EFHC1_ENST00000433625.2_Missense_Mutation_p.L129F|EFHC1_ENST00000538167.1_Missense_Mutation_p.L201F NM_018100.3 NP_060570.2 Q5JVL4 EFHC1_HUMAN EF-hand domain (C-terminal) containing 1 220 axoneme|neuronal cell body calcium ion binding|protein C-terminus binding breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 27 Lung NSC(77;0.109) AAAACAGCCTCTTCGTAAGTA 0.383000 35 88 0 0 1 0 0 ZNF703 80139 broad.mit.edu 37 8 37556167 37556167 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr8:37556167C>T ENST00000331569.4 + 2 1977 c.1748C>T c.(1747-1749)tCa>tTa p.S583L NM_025069.1 NP_079345.1 Q9H7S9 ZN703_HUMAN zinc finger protein 703 583 adherens junction assembly|mammary gland epithelial cell differentiation|negative regulation of homotypic cell-cell adhesion|negative regulation of transcription, DNA-dependent|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of mammary gland epithelial cell proliferation|regulation of canonical Wnt receptor signaling pathway|regulation of cell cycle|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding FGFR1/ZNF703(2) breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09) AGACTAGCTTCAGCCTCGGCG 0.652000 17 50 0 0 1 0 0 FAH 2184 broad.mit.edu 37 15 80464516 80464516 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr15:80464516G>C ENST00000539156.1 + 7 2660 c.422G>C c.(421-423)aGa>aCa p.R141T FAH_ENST00000561421.1_Missense_Mutation_p.R211T|FAH_ENST00000407106.1_Missense_Mutation_p.R211T|FAH_ENST00000261755.5_Missense_Mutation_p.R211T|FAH_ENST00000558627.1_3'UTR P16930 FAAA_HUMAN fumarylacetoacetate hydrolase (fumarylacetoacetase) 211 L-phenylalanine catabolic process|tyrosine catabolic process cytosol fumarylacetoacetase activity|metal ion binding endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CCTGGAAACAGATTGGGAGAG 0.498000 Tyrosinemia, type 1 48 57 0 0 1 0 0 ARPC4 10093 broad.mit.edu 37 3 9845655 9845655 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:9845655C>T ENST00000397261.3 + 5 1023 c.459C>T c.(457-459)gtC>gtT p.V153V ARPC4_ENST00000498623.2_Silent_p.V63V|ARPC4_ENST00000287613.7_Silent_p.V63V|ARPC4-TTLL3_ENST00000397256.1_Intron|ARPC4_ENST00000433034.1_Silent_p.V172V NM_005718.4 NP_005709.1 actin related protein 2/3 complex, subunit 4, 20kDa breast(1)|lung(1) 2 Medulloblastoma(99;0.227) AGCTGTCAGTCAATGCCCGTG 0.493000 44 97 0 0 1 0 0 MCM3 4172 broad.mit.edu 37 6 52137213 52137213 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:52137213G>A ENST00000596288.1 - 12 1875 c.1848C>T c.(1846-1848)taC>taT p.Y616Y MCM3_ENST00000229854.7_Silent_p.Y571Y|MCM3_ENST00000419835.2_Silent_p.Y525Y NM_002388.4 NP_002379.3 P25205 MCM3_HUMAN minichromosome maintenance complex component 3 571 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm ATP binding|DNA binding|helicase activity|protein binding endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 20 Lung NSC(77;0.0931) CCACATGGATGTACTTCTTCA 0.527000 17 51 0 0 1 0 0 FRMD6 122786 broad.mit.edu 37 14 52171523 52171523 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr14:52171523C>T ENST00000395718.2 + 6 689 c.404C>T c.(403-405)tCt>tTt p.S135F FRMD6_ENST00000344768.5_Missense_Mutation_p.S143F|FRMD6_ENST00000554167.1_Missense_Mutation_p.S66F|FRMD6_ENST00000356218.4_Missense_Mutation_p.S135F NM_001267046.1|NM_152330.3 NP_001253975.1|NP_689543.1 Q96NE9 FRMD6_HUMAN FERM domain containing 6 143 FERM. cytoskeleton|mitochondrion|plasma membrane binding breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_epithelial(31;0.0163)|Breast(41;0.089) GTTCTTCATTCTCAGTGTGTG 0.418000 22 41 0 0 1 0 0 TSPYL1 7259 broad.mit.edu 37 6 116600489 116600489 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:116600489C>T ENST00000368608.3 - 1 577 c.505G>A c.(505-507)Gag>Aag p.E169K DSE_ENST00000540275.1_Intron NM_003309.3 NP_003300.1 Q9H0U9 TSYL1_HUMAN TSPY-like 1 169 nucleosome assembly nucleolus breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1) 11 all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234) all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094) CTCTCCCTCTCAGCCACGGCT 0.637000 26 37 0 0 1 0 0 ZNF761 388561 broad.mit.edu 37 19 53946063 53946063 + RNA SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:53946063G>C ENST00000454407.1 + 0 55 TPM3P9_ENST00000424846.3_RNA Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) GCTAGAGGCTGAGAACCTTTG 0.433000 3 4 0 0 1 0 0 TRAK1 22906 broad.mit.edu 37 3 42251519 42251519 + Missense_Mutation SNP A A C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:42251519A>C ENST00000341421.3 + 13 2024 c.1831A>C c.(1831-1833)Agt>Cgt p.S611R TRAK1_ENST00000487159.1_Intron|TRAK1_ENST00000327628.5_Intron|TRAK1_ENST00000396175.1_Intron NM_001265608.1|NM_014965.4 NP_001252537.1|NP_055780.2 Q9UPV9 TRAK1_HUMAN trafficking protein, kinesin binding 1 0 endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 22 AGGCAGCAGAAGTTACCCGAG 0.632000 19 62 0 0 1 0 0 RNF14 9604 broad.mit.edu 37 5 141358012 141358012 + Nonsense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr5:141358012C>T ENST00000394520.2 + 5 760 c.451C>T c.(451-453)Cag>Tag p.Q151* RNF14_ENST00000540015.1_Intron|RNF14_ENST00000347642.3_Nonsense_Mutation_p.Q151*|RNF14_ENST00000394519.1_Nonsense_Mutation_p.Q151*|RNF14_ENST00000394515.3_Intron|RNF14_ENST00000356143.1_Nonsense_Mutation_p.Q151*|RNF14_ENST00000394514.2_Nonsense_Mutation_p.Q25*|RNF14_ENST00000502341.1_3'UTR|AC005740.5_ENST00000520882.1_RNA NM_001201365.1|NM_004290.4 NP_001188294.1|NP_004281.1 Q9UBS8 RNF14_HUMAN ring finger protein 14 151 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent cytoplasm|nucleus androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 all_hematologic(541;0.0536)|Ovarian(839;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.0407) GATTGGTTCTCAGAAAAAAGT 0.463000 21 30 0 0 1 0 0 CTSK 1513 broad.mit.edu 37 1 150772119 150772119 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:150772119C>T ENST00000271651.3 - 6 795 c.685G>A c.(685-687)Gag>Aag p.E229K NM_000396.3 NP_000387.1 P43235 CATK_HUMAN cathepsin K 229 proteolysis lysosome cysteine-type endopeptidase activity|protein binding cervix(1)|endometrium(1)|lung(4)|skin(1) 7 all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) TCATTCCCCTCGGGGATCTCT 0.512000 6 109 0 0 1 0 0 UNC13B 10497 broad.mit.edu 37 9 35399009 35399009 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:35399009C>G ENST00000378495.3 + 32 4027 c.3805C>G c.(3805-3807)Ctc>Gtc p.L1269V UNC13B_ENST00000378496.4_Missense_Mutation_p.L1269V|UNC13B_ENST00000396787.1_Missense_Mutation_p.L1281V|UNC13B_ENST00000481299.1_3'UTR NM_006377.3 NP_006368.3 O14795 UN13B_HUMAN unc-13 homolog B (C. elegans) 1269 MHD2. excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) ACTCCGGCCTCTCATGGACTT 0.592000 28 43 0 0 1 0 0 TC2N 123036 broad.mit.edu 37 14 92268634 92268634 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr14:92268634G>A ENST00000435962.2 - 4 756 c.433C>T c.(433-435)Cct>Tct p.P145S TC2N_ENST00000556018.1_Missense_Mutation_p.P145S|TC2N_ENST00000340892.5_Missense_Mutation_p.P145S|TC2N_ENST00000360594.5_Missense_Mutation_p.P145S NM_001128596.1 NP_001122068 Q8N9U0 TAC2N_HUMAN tandem C2 domains, nuclear 145 nucleus breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2) 18 COAD - Colon adenocarcinoma(157;0.218) GAACGGGGAGGAAAGCGTCGA 0.408000 26 64 0 0 1 0 0 CLEC4C 170482 broad.mit.edu 37 12 7894074 7894074 + Nonsense_Mutation SNP C C A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr12:7894074C>A ENST00000542353.1 - 4 668 c.178G>T c.(178-180)Gag>Tag p.E60* CLEC4C_ENST00000540085.1_Nonsense_Mutation_p.E29*|CLEC4C_ENST00000354629.5_Nonsense_Mutation_p.E29*|CLEC4C_ENST00000360345.3_Nonsense_Mutation_p.E60* NM_130441.2 NP_569708.1 Q8WTT0 CLC4C_HUMAN C-type lectin domain family 4, member C 60 innate immune response integral to membrane sugar binding autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Kidney(36;0.0915) TGTTGATACTCTCGTAACTTG 0.418000 42 59 3.4345e-17 3.5617e-17 1 1 0 ZNFX1 57169 broad.mit.edu 37 20 47886897 47886897 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr20:47886897G>A ENST00000396105.1 - 3 1698 c.1452C>T c.(1450-1452)ctC>ctT p.L484L ZNFX1_ENST00000371754.4_Silent_p.L484L|ZNFX1_ENST00000371752.1_Silent_p.L484L NM_021035.2 NP_066363.1 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 484 metal ion binding cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 60 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CATTGAAGCAGAGCTGGACAA 0.502000 30 102 0 0 1 0 0 PCDHGB6 56100 broad.mit.edu 37 5 140788655 140788655 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr5:140788655G>A ENST00000520790.1 + 1 886 c.886G>A c.(886-888)Gag>Aag p.E296K PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB1_ENST00000523390.1_Intron NM_018926.2|NM_032100.1 NP_061749.1|NP_115271.1 breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2) 48 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCATTGGATGAGAAAACAGG 0.448000 35 81 0 0 1 0 0 SGCZ 137868 broad.mit.edu 37 8 14022128 14022128 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr8:14022128C>G ENST00000382080.1 - 5 1223 c.508G>C c.(508-510)Gat>Cat p.D170H RP11-3G21.1_ENST00000527110.1_RNA|SGCZ_ENST00000421524.2_Missense_Mutation_p.D123H NM_139167.2 NP_631906.2 Q96LD1 SGCZ_HUMAN sarcoglycan, zeta 157 cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 47 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) GTAATCTCATCTTCATCTGCA 0.413000 31 51 0 0 1 0 0 TAF5L 27097 broad.mit.edu 37 1 229730260 229730260 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:229730260G>A ENST00000258281.2 - 5 1719 c.1554C>T c.(1552-1554)ttC>ttT p.F518F TAF5L_ENST00000366676.1_Silent_p.F518F NM_014409.3 NP_055224.1 O75529 TAF5L_HUMAN TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa 518 histone H3 acetylation|transcription from RNA polymerase II promoter STAGA complex|transcription factor TFTC complex sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1) 11 Breast(184;0.193)|Ovarian(103;0.249) Prostate(94;0.167) TGTCTGGACTGAAGGTGAGGC 0.577000 15 36 0 0 1 0 0 OR13D1 286365 broad.mit.edu 37 9 107457693 107457693 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:107457693G>C ENST00000318763.5 + 1 1034 c.991G>C c.(991-993)Gag>Cag p.E331Q NM_001004484.1 NP_001004484.1 Q8NGV5 O13D1_HUMAN olfactory receptor, family 13, subfamily D, member 1 331 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2) 19 AGAGGTCAAAGAGGCTGTAAA 0.408000 24 48 0 0 1 0 0 ENSA 2029 broad.mit.edu 37 1 150599891 150599891 + Nonsense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:150599891G>A ENST00000356527.5 - 2 341 c.235C>T c.(235-237)Cga>Tga p.R79* ENSA_ENST00000339643.5_Intron|ENSA_ENST00000503345.1_Nonsense_Mutation_p.R79*|ENSA_ENST00000361631.5_Intron|ENSA_ENST00000369014.5_Intron|ENSA_ENST00000513281.1_Intron|ENSA_ENST00000361532.5_Intron|ENSA_ENST00000369016.4_Intron|ENSA_ENST00000369009.3_Nonsense_Mutation_p.R79*|ENSA_ENST00000503241.1_Intron|ENSA_ENST00000354702.3_Intron|ENSA_ENST00000271690.8_Intron|ENSA_ENST00000362052.7_Nonsense_Mutation_p.R79* O43768 ENSA_HUMAN endosulfine alpha 61 cell division|G2/M transition of mitotic cell cycle|mitosis|response to nutrient|transport cytoplasm ion channel inhibitor activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity|receptor binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(1) 4 all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;9.85e-23)|all cancers(9;5.06e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.67e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000701)|LUSC - Lung squamous cell carcinoma(543;0.171) GACTTCATTCGAAGAACCTCC 0.433000 32 151 0 0 1 0 0 IARS 3376 broad.mit.edu 37 9 95050488 95050488 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:95050488C>G ENST00000375643.3 - 3 462 c.196G>C c.(196-198)Gat>Cat p.D66H IARS_ENST00000375629.3_5'UTR|IARS_ENST00000447699.2_Intron|IARS_ENST00000443024.2_Missense_Mutation_p.D66H NM_013417.2 NP_038203.2 P41252 SYIC_HUMAN isoleucyl-tRNA synthetase 66 isoleucyl-tRNA aminoacylation cytosol|nucleus|soluble fraction ATP binding|isoleucine-tRNA ligase activity|protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 35 L-Isoleucine(DB00167) GTAACTATATCTTTAATTGTA 0.393000 20 39 0 0 1 0 0 ANKLE2 23141 broad.mit.edu 37 12 133313612 133313612 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr12:133313612G>A ENST00000539605.1 - 7 7958 c.1274C>T c.(1273-1275)tCt>tTt p.S425F ANKLE2_ENST00000357997.5_Missense_Mutation_p.S487F|ANKLE2_ENST00000337516.5_Missense_Mutation_p.S487F Q86XL3 ANKL2_HUMAN ankyrin repeat and LEM domain containing 2 487 cytoplasm|integral to membrane|nuclear envelope NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2) 45 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06) GACTGGAGAAGAAGTCTCTTC 0.657000 48 57 0 0 1 0 0 CHTF18 63922 broad.mit.edu 37 16 842558 842558 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:842558C>T ENST00000317063.6 + 12 2031 c.2031C>T c.(2029-2031)ctC>ctT p.L677L CHTF18_ENST00000262315.9_Silent_p.L482L|CHTF18_ENST00000455171.2_Silent_p.L510L Q8WVB6 CTF18_HUMAN CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae) 482 cell cycle|DNA replication nucleus ATP binding|DNA binding|nucleoside-triphosphatase activity endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1) 11 Hepatocellular(780;0.00335) GGGGGCTCCTCATGAGGCCCA 0.687000 14 24 0 0 1 0 0 GALNT10 55568 broad.mit.edu 37 5 153789309 153789309 + Missense_Mutation SNP C C A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr5:153789309C>A ENST00000297107.6 + 9 1510 c.1373C>A c.(1372-1374)gCa>gAa p.A458E GALNT10_ENST00000377657.3_Missense_Mutation_p.A131E|GALNT10_ENST00000377661.2_Missense_Mutation_p.A396E|SAP30L-AS1_ENST00000524264.1_RNA|SAP30L-AS1_ENST00000519727.1_RNA NM_198321.3 NP_938080.1 Q86SR1 GLT10_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) 458 Ricin B-type lectin. Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 32 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) CCCCCGGCTGCAGCTTGGGGG 0.527000 7 130 1.12685e-05 1.14043e-05 1 1 0 NUPL2 11097 broad.mit.edu 37 7 23240296 23240296 + Nonsense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr7:23240296C>T ENST00000258742.5 + 7 1463 c.1204C>T c.(1204-1206)Caa>Taa p.Q402* NM_007342.2 NP_031368.1 O15504 NUPL2_HUMAN nucleoporin like 2 402 Interaction with GLE1. carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nuclear pore nuclear export signal receptor activity|nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GGAACAATTTCAATCCAAGAA 0.353000 15 84 0 0 1 0 0 FBXW8 26259 broad.mit.edu 37 12 117448166 117448166 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr12:117448166G>C ENST00000455858.2 + 8 1153 c.1080G>C c.(1078-1080)ttG>ttC p.L360F FBXW8_ENST00000309909.5_Missense_Mutation_p.L426F NM_012174.1|NM_153348.2 NP_036306.1|NP_699179.2 Q8N3Y1 FBXW8_HUMAN F-box and WD repeat domain containing 8 426 protein binding p.L426L(1)|p.L426>?(1) endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 22 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0353) GCCGCCTCTTGAAGCTGGGTA 0.547000 24 59 0 0 1 0 0 GPR39 2863 broad.mit.edu 37 2 133174718 133174718 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:133174718C>T ENST00000329321.3 + 1 572 c.103C>T c.(103-105)Ctg>Ttg p.L35L NM_001508.2 NP_001499.1 O43194 GPR39_HUMAN G protein-coupled receptor 39 35 integral to plasma membrane G-protein coupled receptor activity|metal ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CACCCTTATTCTGGTGTACCT 0.547000 44 25 0 0 1 0 0 BCR 613 broad.mit.edu 37 22 23596140 23596140 + Silent SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr22:23596140C>G ENST00000305877.8 + 2 2185 c.1434C>G c.(1432-1434)gtC>gtG p.V478V BCR_ENST00000359540.3_Silent_p.V478V NM_004327.3 NP_004318.3 P11274 BCR_HUMAN breakpoint cluster region 478 regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity BCR/JAK2(6) central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 35 ATGCGCTGGTCTCGGGAGCCC 0.667000 T """ABL1, FGFR1, JAK2 """ """CML, ALL, AML""" 17 20 0 0 1 0 0 SIN3A 25942 broad.mit.edu 37 15 75668153 75668153 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr15:75668153C>G ENST00000394947.3 - 20 3758 c.3444G>C c.(3442-3444)aaG>aaC p.K1148N SIN3A_ENST00000394949.4_Missense_Mutation_p.K1148N|SIN3A_ENST00000360439.4_Missense_Mutation_p.K1148N NM_001145358.1 NP_001138830.1 Q96ST3 SIN3A_HUMAN SIN3 transcription regulator family member A 1148 blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|Sin3 complex protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 63 TGTTTCCTTCCTTCCCTTCCT 0.483000 41 130 0 0 1 0 0 TNRC6B 23112 broad.mit.edu 37 22 40658093 40658093 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr22:40658093C>T ENST00000454349.2 + 4 584 c.373C>T c.(373-375)Cct>Tct p.P125S TNRC6B_ENST00000301923.9_Missense_Mutation_p.P161S|TNRC6B_ENST00000335727.9_Missense_Mutation_p.P125S|TNRC6B_ENST00000402203.1_Missense_Mutation_p.P161S NM_001162501.1 NP_001155973.1 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B 125 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding breast(1) 1 GGCAGGGCCTCCTCCCTGCAC 0.627000 3 17 0 0 1 0 0 SGCZ 137868 broad.mit.edu 37 8 13959967 13959967 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr8:13959967C>T ENST00000382080.1 - 7 1377 c.662G>A c.(661-663)cGt>cAt p.R221H SGCZ_ENST00000421524.2_Missense_Mutation_p.R174H NM_139167.2 NP_631906.2 Q96LD1 SGCZ_HUMAN sarcoglycan, zeta 208 cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 47 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) CTGGACCCCACGGGGAGCTTC 0.458000 11 27 0 0 1 0 0 ITGB2 3689 broad.mit.edu 37 21 46306746 46306746 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr21:46306746G>A ENST00000397850.2 - 16 2604 c.2152C>T c.(2152-2154)Ctc>Ttc p.L718F ITGB2_ENST00000302347.5_Missense_Mutation_p.L718F|ITGB2_ENST00000397854.3_Missense_Mutation_p.L661F|ITGB2_ENST00000397852.1_Missense_Mutation_p.L718F|ITGB2_ENST00000355153.4_Missense_Mutation_p.L718F|ITGB2_ENST00000397857.1_Missense_Mutation_p.L718F P05107 ITB2_HUMAN integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) 718 apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation integrin complex glycoprotein binding|protein kinase binding|receptor activity breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3) 35 Colorectal(79;0.0669) Simvastatin(DB00641) ACCAGCAGGAGAATGCCGATC 0.597000 23 35 0 0 1 0 0 MMP25 64386 broad.mit.edu 37 16 3107033 3107033 + Splice_Site SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:3107033G>A ENST00000336577.4 + 5 898 c.e5-1 RP11-473M20.7_ENST00000570949.1_RNA|RP11-473M20.7_ENST00000576250.1_RNA|RP11-473M20.7_ENST00000573878.1_RNA|RP11-473M20.7_ENST00000572574.1_RNA NM_022468.4 NP_071913.1 Q9NPA2 MMP25_HUMAN matrix metallopeptidase 25 inflammatory response|proteolysis anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1) 14 TTCTCCTGCAGACGGCGAGGG 0.657000 38 50 0 0 1 0 0 KIF15 56992 broad.mit.edu 37 3 44816879 44816879 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:44816879G>C ENST00000326047.4 + 3 345 c.196G>C c.(196-198)Gag>Cag p.E66Q NM_020242.2 NP_064627.1 Q9NS87 KIF15_HUMAN kinesin family member 15 66 Kinesin-motor. blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5) 36 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) CTCCAACCCTGAGCCCAAGAC 0.443000 20 39 0 0 1 0 0 GALNT2 2590 broad.mit.edu 37 1 230203084 230203084 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:230203084C>G ENST00000366672.4 + 1 129 c.57C>G c.(55-57)atC>atG p.I19M GALNT2_ENST00000543760.1_Intron|GALNT2_ENST00000541865.1_5'UTR NM_004481.3 NP_004472.1 Q10471 GALT2_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) 19 immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2) 32 Breast(184;0.193)|Ovarian(103;0.249) all_cancers(173;0.156)|Prostate(94;0.179) TGCTGGGCATCGCCTACTACA 0.766000 3 10 0 0 1 0 0 IL20RB 53833 broad.mit.edu 37 3 136699342 136699342 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:136699342C>T ENST00000329582.4 + 2 372 c.123C>T c.(121-123)ctC>ctT p.L41L IL20RB_ENST00000484501.1_Intron|IL20RB-AS1_ENST00000462176.2_RNA|IL20RB_ENST00000309741.5_5'UTR NM_144717.3 NP_653318.2 Q6UXL0 I20RB_HUMAN interleukin 20 receptor beta 41 Fibronectin type-III 1. integral to membrane receptor activity kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 CTCAGAACCTCTCTGTACTCT 0.512000 49 87 0 0 1 0 0 RAD9B 144715 broad.mit.edu 37 12 110968361 110968361 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr12:110968361C>T ENST00000409246.1 + 11 1266 c.941C>T c.(940-942)tCt>tTt p.S314F RAD9B_ENST00000409300.1_Missense_Mutation_p.S386F|RAD9B_ENST00000409778.3_Intron|RAD9B_ENST00000392672.4_Missense_Mutation_p.S386F|RAD9B_ENST00000409425.1_Missense_Mutation_p.S314F Q6WBX8 RAD9B_HUMAN RAD9 homolog B (S. pombe) 383 cell cycle checkpoint|DNA repair|DNA replication nucleoplasm protein binding endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 7 GCAGTTTCTTCTGACCAGCAA 0.418000 16 53 0 0 1 0 0 DNMT3A 1788 broad.mit.edu 37 2 25457184 25457184 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:25457184G>A ENST00000264709.3 - 23 3040 c.2703C>T c.(2701-2703)ctC>ctT p.L901L DNMT3A_ENST00000380746.4_Silent_p.L712L|DNMT3A_ENST00000321117.5_Silent_p.L901L|DNMT3A_ENST00000402667.1_Silent_p.L678L NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 901 regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCGGAGCGAAGAGGTGGCGGA 0.517000 """Mis, F, N, S""" AML 38 72 0 0 1 0 0 B4GALT3 8703 broad.mit.edu 37 1 161142045 161142045 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:161142045C>G ENST00000319769.5 - 7 1102 c.880G>C c.(880-882)Gat>Cat p.D294H B4GALT3_ENST00000367998.1_Missense_Mutation_p.D294H|PPOX_ENST00000495483.1_Intron|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000535223.1_Intron|B4GALT3_ENST00000470882.1_5'UTR NM_001199873.1|NM_003779.3 NP_001186802.1|NP_003770.1 O60512 B4GT3_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3 294 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity cervix(1)|endometrium(5)|large_intestine(6)|lung(6) 18 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) N-Acetyl-D-glucosamine(DB00141) TTGCCCTTATCTCCTCGGTGC 0.517000 26 33 0 0 1 0 0 ANP32A 8125 broad.mit.edu 37 15 69076757 69076757 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr15:69076757C>T ENST00000465139.2 - 4 648 c.505G>A c.(505-507)Gat>Aat p.D169N ANP32A_ENST00000560303.1_Missense_Mutation_p.D169N|ANP32A_ENST00000483551.2_5'UTR NM_006305.3 NP_006296.1 P39687 AN32A_HUMAN acidic (leucine-rich) nuclear phosphoprotein 32 family, member A 169 Asp/Glu-rich (highly acidic).|Interaction with E4F1 (By similarity).|Necessary for tumor-suppressive function. intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm protein binding endometrium(1)|large_intestine(1)|lung(2) 4 TCCTCCTCATCATCCAGGCCC 0.642000 14 28 0 0 1 0 0 PABPC4 8761 broad.mit.edu 37 1 40035345 40035345 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:40035345G>A ENST00000372857.3 - 5 1452 c.660C>T c.(658-660)gtC>gtT p.V220V PABPC4_ENST00000372856.3_Silent_p.V220V|PABPC4_ENST00000372862.3_Silent_p.V220V|PABPC4_ENST00000529216.1_Intron|PABPC4_ENST00000372858.3_Silent_p.V220V|RP11-69E11.8_ENST00000415255.1_RNA NM_003819.3 NP_003810.1 Q13310 PABP4_HUMAN poly(A) binding protein, cytoplasmic 4 (inducible form) 220 RRM 3. blood coagulation|RNA catabolic process|RNA processing|translation cytoplasm|ribonucleoprotein complex nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3) 21 Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) TCATCACCTTGACACTTAGGG 0.438000 17 81 0 0 1 0 0 TRIM37 4591 broad.mit.edu 37 17 57105805 57105805 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:57105805G>A ENST00000376149.3 - 19 2671 c.1862C>T c.(1861-1863)tCa>tTa p.S621L TRIM37_ENST00000393066.3_Missense_Mutation_p.S743L|TRIM37_ENST00000262294.7_Missense_Mutation_p.S743L|TRIM37_ENST00000393065.2_Missense_Mutation_p.S709L O94972 TRI37_HUMAN tripartite motif containing 37 743 perinuclear region of cytoplasm|peroxisome ligase activity|protein binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Medulloblastoma(34;0.0922)|all_neural(34;0.101) GGCAACTGATGACTTTGCCAG 0.428000 Mulibrey Nanism 23 63 0 0 1 0 0 ZNF300 91975 broad.mit.edu 37 5 150282726 150282726 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr5:150282726C>G ENST00000446148.2 - 4 467 c.40G>C c.(40-42)Gag>Cag p.E14Q ZNF300_ENST00000418587.2_Intron|ZNF300_ENST00000394226.2_5'UTR|ZNF300_ENST00000274599.5_5'UTR|ZNF300_ENST00000427179.1_5'UTR NM_001172831.1 NP_001166302.1 Q96RE9 ZN300_HUMAN zinc finger protein 300 0 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2) 27 Medulloblastoma(196;0.109)|all_hematologic(541;0.131) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATTTTTTGCTCTTCCAAAAGG 0.343000 24 59 0 0 1 0 0 MOGS 7841 broad.mit.edu 37 2 74689268 74689268 + Nonsense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:74689268G>A ENST00000233616.4 - 4 1810 c.1648C>T c.(1648-1650)Cag>Tag p.Q550* MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000452063.2_Nonsense_Mutation_p.Q444* NM_006302.2 NP_006293.2 Q13724 MOGS_HUMAN mannosyl-oligosaccharide glucosidase 550 oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|membrane fraction mannosyl-oligosaccharide glucosidase activity cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2) 23 GCCTGGCTCTGATGGAGCCAG 0.602000 33 128 0 0 1 0 0 SBF1 6305 broad.mit.edu 37 22 50901314 50901314 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr22:50901314G>A ENST00000380817.3 - 17 2136 c.1953C>T c.(1951-1953)gtC>gtT p.V651V SBF1_ENST00000390679.3_Silent_p.V651V|SBF1_ENST00000348911.6_Silent_p.V652V NM_002972.2 NP_002963.2 O95248 MTMR5_HUMAN SET binding factor 1 protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 43 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;0.206)|LUAD - Lung adenocarcinoma(64;0.247) AGAAGGCTGTGACCAGAGGCA 0.657000 11 22 0 0 1 0 0 SPP2 6694 broad.mit.edu 37 2 234959713 234959713 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:234959713C>T ENST00000168148.3 + 2 272 c.184C>T c.(184-186)Cgg>Tgg p.R62W SPP2_ENST00000492481.1_3'UTR|SPP2_ENST00000373368.1_Missense_Mutation_p.R62W NM_006944.2 NP_008875.1 Q13103 SPP24_HUMAN secreted phosphoprotein 2, 24kDa 62 bone remodeling|skeletal system development extracellular region endopeptidase inhibitor activity breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1) 12 Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182) Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846) GTATCTGTTTCGGGCATTCAG 0.443000 30 19 0 0 1 0 0 TCIRG1 10312 broad.mit.edu 37 11 67816393 67816393 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:67816393G>C ENST00000265686.3 + 14 1710 c.1602G>C c.(1600-1602)aaG>aaC p.K534N TCIRG1_ENST00000532635.1_Missense_Mutation_p.K318N NM_006019.3 NP_006010.2 Q13488 VPP3_HUMAN T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 534 ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1) 16 ACTCCTTCAAGATGAAGATGT 0.627000 59 119 0 0 1 0 0 MME 4311 broad.mit.edu 37 3 154861348 154861348 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:154861348G>A ENST00000460393.1 + 13 1425 c.1305G>A c.(1303-1305)gaG>gaA p.E435E MME_ENST00000492661.1_Silent_p.E435E|MME_ENST00000493237.1_Silent_p.E435E|MME_ENST00000360490.2_Silent_p.E435E|MME_ENST00000462745.1_Silent_p.E435E NM_000902.3|NM_007287.2 NP_000893.2|NP_009218.2 P08473 NEP_HUMAN membrane metallo-endopeptidase 435 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) TTGCTGGAGAGAGTAAACATG 0.403000 45 80 0 0 1 0 0 PRKCD 5580 broad.mit.edu 37 3 53217509 53217509 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:53217509C>G ENST00000394729.2 + 8 1027 c.699C>G c.(697-699)ttC>ttG p.F233L PRKCD_ENST00000330452.3_Missense_Mutation_p.F233L NM_212539.1 NP_997704.1 Q05655 KPCD_HUMAN protein kinase C, delta 233 activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction cytosol|endoplasmic reticulum|nucleoplasm ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Ovarian(412;0.0728) OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173) CGCACCGCTTCAAGGTTCACA 0.572000 31 79 0 0 1 0 0 IGSF3 3321 broad.mit.edu 37 1 117122162 117122162 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:117122162G>A ENST00000369486.3 - 10 3951 c.3186C>T c.(3184-3186)ctC>ctT p.L1062L IGSF3_ENST00000318837.6_Silent_p.L1082L|IGSF3_ENST00000369483.1_Silent_p.L1082L NM_001007237.1 NP_001007238.1 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 1062 Ig-like C2-type 8. integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 62 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) TGAGCCGGTAGAGCACCGGGG 0.642000 23 34 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49427633 49427633 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr12:49427633G>A ENST00000301067.7 - 39 10854 c.10855C>T c.(10855-10857)Ctc>Ttc p.L3619F NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GAAGGGCTGAGAGCCAGCACA 0.612000 8 9 0 0 1 0 0 OR8K3 219473 broad.mit.edu 37 11 56085917 56085917 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:56085917G>C ENST00000312711.1 + 1 135 c.135G>C c.(133-135)atG>atC p.M45I NM_001005202.1 NP_001005202.1 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, member 3 45 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 Esophageal squamous(21;0.00448) ATTTGGGCATGATTGTCCTCA 0.443000 43 118 0 0 1 0 0 COL4A3BP 10087 broad.mit.edu 37 5 74721212 74721212 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr5:74721212G>C ENST00000380494.5 - 6 1246 c.953C>G c.(952-954)tCt>tGt p.S318C COL4A3BP_ENST00000261415.7_Missense_Mutation_p.S190C|COL4A3BP_ENST00000405807.4_Missense_Mutation_p.S190C NM_001130105.1 NP_001123577.1 Q9Y5P4 C43BP_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) binding protein 190 ER to Golgi ceramide transport|immune response cytosol|endoplasmic reticulum membrane|Golgi apparatus ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1) 16 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174) OV - Ovarian serous cystadenocarcinoma(47;1e-53) TTCATCCTTAGAGACAGCATC 0.373000 4 69 0 0 1 0 0 SLC24A1 9187 broad.mit.edu 37 15 65945133 65945133 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr15:65945133G>A ENST00000261892.6 + 9 3324 c.3037G>A c.(3037-3039)Gat>Aat p.D1013N SLC24A1_ENST00000339868.6_Missense_Mutation_p.D995N|SLC24A1_ENST00000546330.1_Missense_Mutation_p.D995N|SLC24A1_ENST00000537259.1_Missense_Mutation_p.D995N|SLC24A1_ENST00000544319.2_Missense_Mutation_p.D899N|SLC24A1_ENST00000399033.4_Missense_Mutation_p.D983N|SLC24A1_ENST00000449142.2_3'UTR NM_001254740.1|NM_004727.2 NP_001241669.1|NP_004718.1 O60721 NCKX1_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 1013 response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 TAACATATTTGATATCACTGT 0.463000 24 102 0 0 1 0 0 NFE2L1 4779 broad.mit.edu 37 17 46136441 46136441 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:46136441C>T ENST00000362042.3 + 6 2373 c.1757C>T c.(1756-1758)tCa>tTa p.S586L NFE2L1_ENST00000361665.3_Missense_Mutation_p.S575L|NFE2L1_ENST00000582155.1_Missense_Mutation_p.S398L|NFE2L1_ENST00000583378.1_Missense_Mutation_p.S387L|NFE2L1_ENST00000536222.1_Missense_Mutation_p.S430L|NFE2L1_ENST00000585291.1_Missense_Mutation_p.S556L|NFE2L1_ENST00000357480.5_Missense_Mutation_p.S556L NM_003204.2 NP_003195.1 Q14494 NF2L1_HUMAN nuclear factor, erythroid 2-like 1 586 anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GCCCTGGACTCAGCCGACCTG 0.612000 39 56 0 0 1 0 0 SLC16A6 9120 broad.mit.edu 37 17 66274388 66274388 + Nonsense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:66274388C>T ENST00000327268.4 - 3 238 c.74G>A c.(73-75)tGg>tAg p.W25* ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Nonsense_Mutation_p.W25* NM_001174166.1 NP_001167637.1 O15403 MOT7_HUMAN solute carrier family 16, member 6 25 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2) 15 all_cancers(12;1.24e-09) BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) Pyruvic acid(DB00119) AGCTACCGCCCAGCCCCATCC 0.373000 34 51 0 0 1 0 0 RBM15 64783 broad.mit.edu 37 1 110884788 110884788 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:110884788C>T ENST00000369784.3 + 1 3661 c.2761C>T c.(2761-2763)Cat>Tat p.H921Y RBM15_ENST00000602849.1_Missense_Mutation_p.H921Y|RBM15_ENST00000487146.2_Missense_Mutation_p.H921Y NM_022768.4 NP_073605.4 Q96T37 RBM15_HUMAN RNA binding motif protein 15 921 SPOC. interspecies interaction between organisms nucleus nucleotide binding|protein binding|RNA binding ovary(3) 3 all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634) BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135) CGGGGTCCTTCATGCCTTCCC 0.527000 T MKL1 acute megakaryocytic leukemia 43 47 0 0 1 0 0 PTPRM 5797 broad.mit.edu 37 18 8380381 8380381 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr18:8380381C>T ENST00000332175.8 + 27 4872 c.3835C>T c.(3835-3837)Cac>Tac p.H1279Y PTPRM_ENST00000400060.4_Missense_Mutation_p.H1293Y|PTPRM_ENST00000580170.1_Missense_Mutation_p.H1292Y|PTPRM_ENST00000400053.4_Missense_Mutation_p.H1217Y|PTPRM_ENST00000444013.1_Missense_Mutation_p.H1066Y NM_002845.3 NP_002836.3 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 1279 Tyrosine-protein phosphatase 2. homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity p.H1279Y(1) breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 90 Colorectal(10;0.234) CCTGGATTATCACTGCACATC 0.453000 27 36 0 0 1 0 0 C11orf48 79081 broad.mit.edu 37 11 62437356 62437356 + Nonsense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:62437356G>A ENST00000431002.2 - 1 1881 c.148C>T c.(148-150)Cag>Tag p.Q50* C11orf48_ENST00000532208.1_Nonsense_Mutation_p.Q50*|C11orf48_ENST00000354588.3_Nonsense_Mutation_p.Q50* Q9BQE6 CK048_HUMAN chromosome 11 open reading frame 48 50 endometrium(1)|lung(5)|urinary_tract(1) 7 GTACTAACCTGAATGTGCTGG 0.537000 13 56 0 0 1 0 0 ZNF473 25888 broad.mit.edu 37 19 50542477 50542477 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:50542477C>T ENST00000595661.1 + 4 564 c.69C>T c.(67-69)ctC>ctT p.L23L ZNF473_ENST00000270617.3_Silent_p.L23L|ZNF473_ENST00000391821.2_Silent_p.L23L|ZNF473_ENST00000601364.1_Silent_p.L23L|ZNF473_ENST00000445728.3_Silent_p.L11L Q8WTR7 ZN473_HUMAN zinc finger protein 473 23 KRAB. histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription Cajal body DNA binding|protein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058) GGGAGCAGCTCGGGCTGGAAC 0.577000 44 140 0 0 1 0 0 FZD10 11211 broad.mit.edu 37 12 130648022 130648022 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr12:130648022G>C ENST00000539839.1 + 1 1019 c.437G>C c.(436-438)gGa>gCa p.G146A FZD10_ENST00000229030.4_Missense_Mutation_p.E179Q NM_007197.3 NP_009128.1 Q9ULW2 FZD10_HUMAN frizzled family receptor 10 0 FZ. brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1) 35 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) CAGCGCGCAGGAGCACCCGCT 0.751000 9 37 0 0 1 0 0 AKNA 80709 broad.mit.edu 37 9 117139801 117139801 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:117139801C>G ENST00000307564.4 - 3 447 c.286G>C c.(286-288)Gag>Cag p.E96Q AKNA_ENST00000312033.3_Missense_Mutation_p.E96Q|AKNA_ENST00000374075.5_Missense_Mutation_p.E15Q|AKNA_ENST00000374088.3_Missense_Mutation_p.E96Q NM_030767.4 NP_110394.3 Q7Z591 AKNA_HUMAN AT-hook transcription factor 96 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2) 51 TCCACATCCTCTGCTTCAGCC 0.552000 14 41 0 0 1 0 0 TRIM45 80263 broad.mit.edu 37 1 117663548 117663548 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:117663548G>C ENST00000256649.4 - 1 802 c.276C>G c.(274-276)atC>atG p.I92M TRIM45_ENST00000369461.3_Missense_Mutation_p.I35M|TRIM45_ENST00000369464.3_Missense_Mutation_p.I92M NM_025188.3 NP_079464.2 Q9H8W5 TRI45_HUMAN tripartite motif containing 45 92 cytoplasm|nucleus zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1) 23 Lung SC(450;0.225) all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389) Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187) CAGGACAAAGGATGCCGATCT 0.542000 30 40 0 0 1 0 0 NGLY1 55768 broad.mit.edu 37 3 25773850 25773850 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:25773850G>A ENST00000428257.1 - 9 1438 c.1331C>T c.(1330-1332)tCa>tTa p.S444L NGLY1_ENST00000417874.2_Missense_Mutation_p.S420L|NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000396649.3_Missense_Mutation_p.S462L|NGLY1_ENST00000467224.1_Intron|NGLY1_ENST00000280700.5_Missense_Mutation_p.S462L NM_001145293.1 NP_001138765.1 Q96IV0 NGLY1_HUMAN N-glycanase 1 462 glycoprotein catabolic process cytoplasm metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1) 18 CCAAGCCACTGACCCAGATAT 0.418000 34 77 0 0 1 0 0 EIF3D 8664 broad.mit.edu 37 22 36908628 36908628 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr22:36908628G>A ENST00000216190.8 - 13 1598 c.1228C>T c.(1228-1230)Cgt>Tgt p.R410C EIF3D_ENST00000541106.1_Missense_Mutation_p.R361C|EIF3D_ENST00000405442.1_Missense_Mutation_p.R410C NM_003753.3 NP_003744.1 O15371 EIF3D_HUMAN eukaryotic translation initiation factor 3, subunit D 410 cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 15 AGCTTCTGACGCCAGTCAACG 0.577000 7 67 0 0 1 0 0 NOL9 79707 broad.mit.edu 37 1 6605202 6605202 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:6605202C>G ENST00000377705.5 - 4 815 c.783G>C c.(781-783)ttG>ttC p.L261F NM_024654.4 NP_078930 Q5SY16 NOL9_HUMAN nucleolar protein 9 261 maturation of 5.8S rRNA nucleolus ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1) 19 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649) CAACAGACCTCAAGGCTAAAT 0.373000 14 65 0 0 1 0 0 IGIP 492311 broad.mit.edu 37 5 139508082 139508082 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr5:139508082G>C ENST00000333305.3 + 1 2562 c.21G>C c.(19-21)atG>atC p.M7I NM_001007189.1 NP_001007190.1 A6NJ69 IGIP_HUMAN IgA-inducing protein 7 extracellular region ATTATCACATGAAGAAACGCA 0.358000 17 43 0 0 1 0 0 ZNF562 54811 broad.mit.edu 37 19 9764312 9764312 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:9764312G>A ENST00000448622.1 - 6 756 c.594C>T c.(592-594)ctC>ctT p.L198L ZNF562_ENST00000453372.2_Silent_p.L198L|ZNF562_ENST00000590155.1_Silent_p.L197L|ZNF562_ENST00000293648.4_Silent_p.L126L|ZNF562_ENST00000453792.2_Silent_p.L129L|ZNF562_ENST00000541032.1_Silent_p.L161L|ZNF562_ENST00000537617.1_Silent_p.L82L NM_001130031.1|NM_001130032.1 NP_001123503.1|NP_001123504.1 Q6V9R5 ZN562_HUMAN zinc finger protein 562 198 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.L198L(1)|p.L126L(1) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 17 GTCTTCCATTGAGAATTTCAA 0.398000 18 39 0 0 1 0 0 CNOT1 23019 broad.mit.edu 37 16 58559259 58559259 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:58559259G>A ENST00000317147.5 - 46 6940 c.6608C>T c.(6607-6609)tCc>tTc p.S2203F CNOT1_ENST00000569240.1_Missense_Mutation_p.S2198F|CNOT1_ENST00000245138.4_Missense_Mutation_p.S1054F NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 2203 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) AGGTTCATTGGATACCTTAAA 0.468000 12 21 0 0 1 0 0 SARM1 23098 broad.mit.edu 37 17 26708656 26708656 + Nonsense_Mutation SNP C C A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:26708656C>A ENST00000457710.3 + 2 1274 c.803C>A c.(802-804)tCg>tAg p.S268* TMEM199_ENST00000509083.1_3'UTR|CTB-96E2.3_ENST00000591482.1_RNA|SARM1_ENST00000379061.4_3'UTR NM_015077.2 NP_055892.2 Q6SZW1 SARM1_HUMAN sterile alpha and TIR motif containing 1 302 innate immune response cytoplasm|intrinsic to membrane binding|transmembrane receptor activity cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 12 all_lung(13;0.000533)|Lung NSC(42;0.00171) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) CTTGTGGCCTCGCTGGACCCT 0.716000 6 13 0.0215528 0.0216133 1 1 0 NHLRC1 378884 broad.mit.edu 37 6 18121781 18121781 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:18121781G>A ENST00000340650.3 - 1 1070 c.1057C>T c.(1057-1059)Cca>Tca p.P353S NM_198586.2 NP_940988.2 Q6VVB1 NHLC1_HUMAN NHL repeat containing 1 353 proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination endoplasmic reticulum|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2) 11 Ovarian(93;0.016)|Breast(50;0.0245) all_hematologic(90;0.165) all cancers(50;0.0451)|Epithelial(50;0.0493) TTCGGTACTGGAAACTCCTCA 0.478000 28 56 0 0 1 0 0 EIF4A2 1974 broad.mit.edu 37 3 186503736 186503736 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:186503736G>A ENST00000323963.5 + 5 477 c.413G>A c.(412-414)gGa>gAa p.G138E EIF4A2_ENST00000440191.2_Missense_Mutation_p.G139E|EIF4A2_ENST00000356531.5_Missense_Mutation_p.G43E Q14240 IF4A2_HUMAN eukaryotic translation initiation factor 4A2 138 Helicase ATP-binding. interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1) 28 all_cancers(143;2.68e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.07e-20) GBM - Glioblastoma multiforme(93;0.0704) TGCATTGGTGGAACAAATGTT 0.413000 T BCL6 NHL 25 61 0 0 1 0 0 CILP2 148113 broad.mit.edu 37 19 19656098 19656098 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:19656098G>A ENST00000586018.1 + 8 2864 c.2762G>A c.(2761-2763)cGa>cAa p.R921Q CILP2_ENST00000291495.5_Missense_Mutation_p.R915Q Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 915 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 GTCCCCTTCCGAGAGGGCACA 0.672000 11 34 0 0 1 0 0 SRRM1 10250 broad.mit.edu 37 1 24987249 24987249 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:24987249C>T ENST00000323848.9 + 10 1670 c.1355C>T c.(1354-1356)tCa>tTa p.S452L SRRM1_ENST00000374389.4_Missense_Mutation_p.S447L|SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.S450L NM_005839.3 NP_005830.2 Q8IYB3 SRRM1_HUMAN serine/arginine repetitive matrix 1 452 Arg-rich.|Necessary for speckles and matrix localization.|Ser-rich. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck DNA binding|protein binding|RNA binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 36 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) GAATCCCCTTCACCAGCACCG 0.328000 19 65 0 0 1 0 0 FURIN 5045 broad.mit.edu 37 15 91424800 91424800 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr15:91424800C>T ENST00000268171.3 + 16 2356 c.2077C>T c.(2077-2079)Cgg>Tgg p.R693W NM_002569.2 NP_002560.1 P09958 FURIN_HUMAN furin (paired basic amino acid cleaving enzyme) 693 Cys-rich. cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 36 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) GCAGCCACCTCGGCTGCCCCC 0.711000 18 17 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136594118 136594118 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:136594118C>T ENST00000264162.2 - 1 632 c.622G>A c.(622-624)Gaa>Aaa p.E208K NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 208 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) GCATAGCTTTCGTGGTAAATC 0.507000 67 31 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10438398 10438398 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:10438398G>A ENST00000245503.5 - 19 2556 c.2172C>T c.(2170-2172)ttC>ttT p.F724F MYH2_ENST00000532183.2_Intron|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.F724F|RP11-799N11.1_ENST00000399342.2_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 724 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(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 ACCTCTGTTTGAAGTCTGCAT 0.413000 46 23 0 0 1 0 0 TBC1D15 64786 broad.mit.edu 37 12 72289754 72289754 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr12:72289754C>G ENST00000550746.1 + 9 998 c.934C>G c.(934-936)Caa>Gaa p.Q312E TBC1D15_ENST00000319106.8_Missense_Mutation_p.Q303E|TBC1D15_ENST00000485960.2_Missense_Mutation_p.Q295E|TBC1D15_ENST00000393309.3_Missense_Mutation_p.Q66E NM_001146213.1|NM_022771.4 NP_001139685.2|NP_073608.4 Q8TC07 TBC15_HUMAN TBC1 domain family, member 15 312 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 CCCTGTTGTTCAAAGGAGAGA 0.318000 17 22 0 0 1 0 0 EVI2B 2124 broad.mit.edu 37 17 29632419 29632419 + Nonsense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:29632419G>C ENST00000330927.4 - 2 363 c.209C>G c.(208-210)tCa>tGa p.S70* NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|EVI2B_ENST00000577894.1_Nonsense_Mutation_p.S70*|EVI2B_ENST00000544462.1_Nonsense_Mutation_p.S85*|CTD-2370N5.3_ENST00000578584.1_3'UTR NM_006495.3 NP_006486.3 P34910 EVI2B_HUMAN ecotropic viral integration site 2B 70 cytoplasm|integral to plasma membrane p.0?(8)|p.?(3) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1) 12 all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094) UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184) AGGTGATATTGATTGTCCAGA 0.438000 53 159 0 0 1 0 0 HNRNPK 3190 broad.mit.edu 37 9 86586216 86586216 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:86586216G>A ENST00000376263.3 - 13 1287 c.1064C>T c.(1063-1065)tCa>tTa p.S355L HNRNPK_ENST00000376281.4_Missense_Mutation_p.S355L|HNRNPK_ENST00000351839.3_Missense_Mutation_p.S355L|HNRNPK_ENST00000376264.2_Missense_Mutation_p.S355L|HNRNPK_ENST00000360384.5_Missense_Mutation_p.S355L NM_031263.2 NP_112553.1 P61978 HNRPK_HUMAN heterogeneous nuclear ribonucleoprotein K 355 2 X 22 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G. interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1) 19 CTGCCATTCTGATGGGCTCCA 0.388000 39 69 0 0 1 0 0 TEAD1 7003 broad.mit.edu 37 11 12958691 12958691 + Silent SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:12958691C>G ENST00000361905.4 + 13 1823 c.1158C>G c.(1156-1158)ctC>ctG p.L386L TEAD1_ENST00000527636.1_Silent_p.L401L|TEAD1_ENST00000527575.1_Silent_p.L343L|TEAD1_ENST00000334310.6_Silent_p.L332L|TEAD1_ENST00000526600.1_Silent_p.L305L|TEAD1_ENST00000361985.2_Silent_p.L401L NM_021961.5 NP_068780.2 P28347 TEAD1_HUMAN TEA domain family member 1 (SV40 transcriptional enhancer factor) 401 Transcriptional activation (Potential). hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9) 17 Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236) AAACTCTACTCTGCATGGCCT 0.338000 21 28 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62289010 62289010 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:62289010G>C ENST00000378024.4 - 5 13153 c.12879C>G c.(12877-12879)atC>atG p.I4293M AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 4293 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TGGGGCCCTTGATGTCAACTT 0.507000 107 142 0 0 1 0 0 EPM2AIP1 9852 broad.mit.edu 37 3 37033278 37033278 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:37033278G>A ENST00000322716.5 - 1 1517 c.1291C>T c.(1291-1293)Cta>Tta p.L431L NM_014805.3 NP_055620.1 Q7L775 EPMIP_HUMAN EPM2A (laforin) interacting protein 1 431 endoplasmic reticulum breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2) 27 AAGTCTGTTAGATTTTTTTCC 0.338000 16 37 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57328561 57328561 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:57328561C>G ENST00000326441.9 - 10 1612 c.1249G>C c.(1249-1251)Gaa>Caa p.E417Q PEG3_ENST00000423103.2_Missense_Mutation_p.E417Q|PEG3_ENST00000593695.1_Missense_Mutation_p.E291Q|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.E293Q|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 417 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CTACCACATTCAAAGGGCTTC 0.493000 33 132 0 0 1 0 0 HAUS6 54801 broad.mit.edu 37 9 19080529 19080529 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:19080529C>T ENST00000380502.3 - 9 1479 c.1012G>A c.(1012-1014)Gaa>Aaa p.E338K HAUS6_ENST00000380496.1_Missense_Mutation_p.E202K NM_001270890.1|NM_017645.4 NP_001257819.1|NP_060115.3 Q7Z4H7 HAUS6_HUMAN HAUS augmin-like complex, subunit 6 338 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|nucleus|spindle autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GTCTCTTTTTCAAGGTAGTGA 0.363000 16 29 0 0 1 0 0 TCOF1 6949 broad.mit.edu 37 5 149767531 149767531 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr5:149767531G>A ENST00000451292.1 + 19 3145 c.3037G>A c.(3037-3039)Gca>Aca p.A1013T TCOF1_ENST00000513346.1_Missense_Mutation_p.A1013T|TCOF1_ENST00000439160.2_Missense_Mutation_p.A976T|TCOF1_ENST00000504761.2_Missense_Mutation_p.A976T|TCOF1_ENST00000323668.7_Missense_Mutation_p.A899T|TCOF1_ENST00000445265.2_Missense_Mutation_p.A899T|TCOF1_ENST00000377797.3_Missense_Mutation_p.A976T Q13428 TCOF_HUMAN Treacher Collins-Franceschetti syndrome 1 976 skeletal system development nucleolus protein binding|transporter activity p.A899T(2)|p.A976T(1) NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 35 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGCTACACCCGCACAAGCCCA 0.587000 4 100 0 0 1 0 0 C2orf44 80304 broad.mit.edu 37 2 24261791 24261791 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:24261791G>A ENST00000295148.4 - 2 631 c.574C>T c.(574-576)Cac>Tac p.H192Y C2orf44_ENST00000406895.3_Missense_Mutation_p.H192Y NM_025203.2 NP_079479.1 Q9H6R7 CB044_HUMAN chromosome 2 open reading frame 44 192 protein binding C2orf44/ALK(2) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GAGCACCTGTGAAGAGTCTTC 0.537000 T ALK NSCLC 33 37 0 0 1 0 0 PPM1N 147699 broad.mit.edu 37 19 46002205 46002205 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:46002205G>A ENST00000324688.4 + 1 341 c.241G>A c.(241-243)Gaa>Aaa p.E81K PPM1N_ENST00000396737.2_Intron|PPM1N_ENST00000451287.2_Missense_Mutation_p.E159K|PPM1N_ENST00000401705.1_Intron|PPM1N_ENST00000456399.2_Intron Q8N819 PPM1N_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative) 159 PP2C-like. magnesium ion binding|manganese ion binding|phosphoprotein phosphatase activity NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6) 9 GCCCCGCGTGGAAACGGGCGG 0.751000 4 3 0 0 1 0 0 SLC38A10 124565 broad.mit.edu 37 17 79225138 79225138 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:79225138G>C ENST00000288439.5 - 14 2565 c.2220C>G c.(2218-2220)ttC>ttG p.F740L SLC38A10_ENST00000374759.3_Intron NM_138570.2 NP_612637.1 Q9HBR0 S38AA_HUMAN solute carrier family 38, member 10 0 amino acid transport|sodium ion transport integral to membrane NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) GAAGGGAGCAGAAAGCTCTCC 0.592000 29 41 0 0 1 0 0 NSUN7 79730 broad.mit.edu 37 4 40800815 40800815 + Nonsense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr4:40800815C>T ENST00000381782.2 + 10 1789 c.1294C>T c.(1294-1296)Caa>Taa p.Q432* NSUN7_ENST00000316607.5_Nonsense_Mutation_p.Q432* NM_024677.4 NP_078953 NOP2/Sun domain family, member 7 NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 12 TACTAAAGCTCAAGCAGTTGT 0.333000 6 30 0 0 1 0 0 BRWD1 54014 broad.mit.edu 37 21 40559035 40559035 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr21:40559035C>T ENST00000333229.2 - 42 7207 c.6880G>A c.(6880-6882)Gaa>Aaa p.E2294K NM_018963.4 NP_061836.2 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 2294 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) TTTTCACTTTCAGAATTTATG 0.348000 25 21 0 0 1 0 0 ZNF195 7748 broad.mit.edu 37 11 3380466 3380466 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:3380466G>A ENST00000354599.6 - 4 1660 c.1556C>T c.(1555-1557)tCa>tTa p.S519L ZNF195_ENST00000526601.1_Missense_Mutation_p.S572L|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000399602.4_Missense_Mutation_p.S591L|ZNF195_ENST00000005082.9_Missense_Mutation_p.S568L|ZNF195_ENST00000429541.2_Missense_Mutation_p.S523L|ZNF195_ENST00000343338.7_Missense_Mutation_p.S523L NM_001242843.1|NM_001256825.1|NM_007152.4 NP_001229772.1|NP_001243754.1|NP_009083.2 O14628 ZN195_HUMAN zinc finger protein 195 591 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1) 17 Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965) BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2) AATAAGGTTTGAGGACTGGGT 0.408000 17 59 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105418524 105418524 + Missense_Mutation SNP A A T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr14:105418524A>T ENST00000333244.5 - 7 3383 c.3264T>A c.(3262-3264)agT>agA p.S1088R AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1088 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GCATCTTGAAACTGGGCATCT 0.627000 9 376 0 0 1 0 0 YARS2 51067 broad.mit.edu 37 12 32903720 32903720 + Nonsense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr12:32903720G>A ENST00000324868.8 - 3 1063 c.1036C>T c.(1036-1038)Cag>Tag p.Q346* NM_001040436.2 NP_001035526.1 Q9Y2Z4 SYYM_HUMAN tyrosyl-tRNA synthetase 2, mitochondrial 346 tyrosyl-tRNA aminoacylation mitochondrial matrix ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 16 Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) L-Tyrosine(DB00135) AGTCGTTTCTGAGGACCCCGC 0.438000 27 57 0 0 1 0 0 COQ10B 80219 broad.mit.edu 37 2 198338485 198338485 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:198338485C>G ENST00000263960.2 + 5 692 c.554C>G c.(553-555)tCt>tGt p.S185C COQ10B_ENST00000409398.1_Missense_Mutation_p.S135C|COQ10B_ENST00000545340.1_Missense_Mutation_p.S142C|COQ10B_ENST00000409010.1_Missense_Mutation_p.S157C NM_025147.3 NP_079423.1 Q9H8M1 CQ10B_HUMAN coenzyme Q10 homolog B (S. cerevisiae) 185 mitochondrial inner membrane endometrium(1)|large_intestine(2)|lung(3) 6 Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246) CTACAGATTTCTTTTGAATTT 0.343000 9 7 0 0 1 0 0 SUGP2 10147 broad.mit.edu 37 19 19106032 19106032 + Nonsense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:19106032G>A ENST00000601879.1 - 9 3346 c.3049C>T c.(3049-3051)Cag>Tag p.Q1017* SUGP2_ENST00000452918.2_Nonsense_Mutation_p.Q1017*|SUGP2_ENST00000337018.6_Nonsense_Mutation_p.Q1017*|SUGP2_ENST00000600377.1_Nonsense_Mutation_p.Q1031*|SUGP2_ENST00000456085.2_Nonsense_Mutation_p.Q786* Q8IX01 SUGP2_HUMAN SURP and G patch domain containing 2 1017 G-patch. mRNA processing|RNA splicing nucleus RNA binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 TGCAGCATCTGGAAGCCCAGG 0.617000 15 30 0 0 1 0 0 DGKH 160851 broad.mit.edu 37 13 42763227 42763227 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr13:42763227C>T ENST00000261491.5 + 15 1715 c.1694C>T c.(1693-1695)tCc>tTc p.S565F DGKH_ENST00000379274.2_Missense_Mutation_p.S429F|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000337343.4_Missense_Mutation_p.S565F|DGKH_ENST00000536612.1_Missense_Mutation_p.S429F|DGKH_ENST00000538674.1_Missense_Mutation_p.S320F|DGKH_ENST00000540693.1_Missense_Mutation_p.S565F NM_152910.4 NP_690874.2 Q86XP1 DGKH_HUMAN diacylglycerol kinase, eta activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization endosome|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109) CACACAGATTCCCAGGCTGCG 0.488000 33 18 0 0 1 0 0 CCND1 595 broad.mit.edu 37 11 69462886 69462886 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:69462886C>T ENST00000227507.2 + 4 926 c.699C>T c.(697-699)ctC>ctT p.L233L CCND1_ENST00000536559.1_3'UTR NM_053056.2 NP_444284.1 P24385 CCND1_HUMAN cyclin D1 233 cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm protein kinase binding NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1) 23 all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348) Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537) Arsenic trioxide(DB01169) CACGCTTCCTCTCCAGAGTGA 0.622000 T """IGH@, FSTL3""" """CLL, B-ALL, breast""" Multiple Myeloma(6;0.086) 146 50 0 0 1 0 0 UCN3 114131 broad.mit.edu 37 10 5415749 5415749 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr10:5415749C>T ENST00000380433.3 + 2 294 c.66C>T c.(64-66)ctC>ctT p.L22L NM_053049.2 NP_444277.2 Q969E3 UCN3_HUMAN urocortin 3 22 extracellular region hormone activity endometrium(1)|large_intestine(1) 2 GGACAGGCCTCCCCCACAAGT 0.622000 36 62 0 0 1 0 0 PTAFR 5724 broad.mit.edu 37 1 28476798 28476798 + Silent SNP G G A rs144798109 byFrequency TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:28476798G>A ENST00000373857.3 - 2 1369 c.735C>T c.(733-735)ttC>ttT p.F245F PTAFR_ENST00000305392.3_Silent_p.F245F|PTAFR_ENST00000539896.1_Silent_p.F245F NM_000952.4|NM_001164722.2|NM_001164723.2 NP_000943.1|NP_001158194.1|NP_001158195.1 P25105 PTAFR_HUMAN platelet-activating factor receptor 245 chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling integral to plasma membrane|nucleus phospholipid binding|platelet activating factor receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1) 15 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557) UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649) GGTGGGGCACGAAGCAGATGA 0.612000 19 38 0 0 1 0 0 KIF21B 23046 broad.mit.edu 37 1 200954082 200954082 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:200954082G>A ENST00000332129.2 - 27 4024 c.3708C>T c.(3706-3708)ttC>ttT p.F1236F KIF21B_ENST00000360529.5_Silent_p.F1236F|KIF21B_ENST00000461742.2_Silent_p.F1236F|KIF21B_ENST00000422435.2_Silent_p.F1236F NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 1236 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 ATGGGGGTGTGAATCCCACAT 0.602000 8 38 0 0 1 0 0 SLC30A4 7782 broad.mit.edu 37 15 45782984 45782984 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr15:45782984C>T ENST00000261867.4 - 4 948 c.634G>A c.(634-636)Gaa>Aaa p.E212K RP11-519G16.3_ENST00000560647.1_RNA|RP11-519G16.3_ENST00000558536.1_RNA NM_013309.4 NP_037441.2 O14863 ZNT4_HUMAN solute carrier family 30 (zinc transporter), member 4 212 regulation of sequestering of zinc ion|response to toxin endosome membrane|integral to membrane|late endosome zinc ion transmembrane transporter activity endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1) 15 Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06) CCATTTATTTCATAGTTCATA 0.343000 9 18 0 0 1 0 0 KIAA0319L 79932 broad.mit.edu 37 1 35940500 35940500 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:35940500C>T ENST00000325722.3 - 5 1155 c.921G>A c.(919-921)aaG>aaA p.K307K NM_024874.4 NP_079150.3 Q8IZA0 K319L_HUMAN KIAA0319-like 307 cytoplasmic vesicle part|integral to membrane protein binding breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 34 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CCACCAGTTCCTTTATAACTG 0.363000 15 19 0 0 1 0 0 ZNF780B 163131 broad.mit.edu 37 19 40542233 40542233 + Nonsense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:40542233G>C ENST00000434248.1 - 5 598 c.533C>G c.(532-534)tCa>tGa p.S178* ZNF780B_ENST00000221355.6_Nonsense_Mutation_p.S30* NM_001005851.2 NP_001005851.1 Q9Y6R6 Z780B_HUMAN zinc finger protein 780B 178 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) AATAAGATTTGAACCACAACT 0.353000 22 79 0 0 1 0 0 GNAT2 2780 broad.mit.edu 37 1 110146645 110146645 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:110146645G>A ENST00000351050.3 - 7 988 c.802C>T c.(802-804)Ctc>Ttc p.L268F NM_005272.3 NP_005263.1 P19087 GNAT2_HUMAN guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 268 detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane G-protein beta/gamma-subunit complex binding|G-protein coupled photoreceptor activity|G-protein-coupled receptor binding|GTP binding|GTPase activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 14 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227) TTCTTGTTGAGAAAGAGGACA 0.393000 30 29 0 0 1 0 0 FCHO1 23149 broad.mit.edu 37 19 17895674 17895674 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:17895674G>C ENST00000594202.1 + 26 2646 c.2367G>C c.(2365-2367)caG>caC p.Q789H FCHO1_ENST00000596951.1_Missense_Mutation_p.Q789H|FCHO1_ENST00000595033.1_Missense_Mutation_p.Q739H|FCHO1_ENST00000389133.4_Missense_Mutation_p.Q789H|FCHO1_ENST00000600676.1_Missense_Mutation_p.Q789H|FCHO1_ENST00000539407.1_Missense_Mutation_p.Q789H|FCHO1_ENST00000596536.1_Missense_Mutation_p.Q789H|FCHO1_ENST00000252771.7_Missense_Mutation_p.Q789H|FCHO1_ENST00000597512.1_Missense_Mutation_p.Q796H NM_001161357.1 NP_001154829.1 O14526 FCHO1_HUMAN FCH domain only 1 789 NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12) 22 CGAACGTCCAGATCCTGCTGC 0.657000 OREG0025350 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 51 111 0 0 1 0 0 UBTD2 92181 broad.mit.edu 37 5 171661337 171661337 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr5:171661337C>G ENST00000393792.2 - 2 501 c.96G>C c.(94-96)ttG>ttC p.L32F NM_152277.2 NP_689490.2 Q8WUN7 UBTD2_HUMAN ubiquitin domain containing 2 32 cytoplasm cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1) 10 Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156) Medulloblastoma(196;0.00853)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TCTCCTTTTTCAAAGGCTGGT 0.368000 22 47 0 0 1 0 0 DIP2C 22982 broad.mit.edu 37 10 356019 356019 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr10:356019G>A ENST00000280886.6 - 32 4025 c.3938C>T c.(3937-3939)cCt>cTt p.P1313L NM_014974.2 NP_055789.1 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C (Drosophila) 1313 nucleus catalytic activity|transcription factor binding breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) GGTTGGGTCAGGTCCTGAGGT 0.438000 18 54 0 0 1 0 0 CDK9 1025 broad.mit.edu 37 9 130549879 130549879 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:130549879G>A ENST00000373265.2 + 3 608 c.608G>A c.(607-609)cGa>cAa p.R203Q CDK9_ENST00000480353.1_3'UTR|CDK9_ENST00000373264.4_Missense_Mutation_p.R86Q P50750 CDK9_HUMAN cyclin-dependent kinase 9 86 Protein kinase. cell proliferation|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction transcription elongation factor complex ATP binding|cyclin-dependent protein kinase activity|DNA binding|protein binding|RNA polymerase II carboxy-terminal domain kinase activity lung(1) 1 GAGATTTGTCGAACCAAAGGT 0.433000 37 74 0 0 1 0 0 ACER3 55331 broad.mit.edu 37 11 76670067 76670067 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:76670067G>A ENST00000532485.1 + 3 363 c.259G>A c.(259-261)Gaa>Aaa p.E87K ACER3_ENST00000533873.1_Missense_Mutation_p.E50K|ACER3_ENST00000526597.1_Intron|CTD-2547H18.1_ENST00000530190.1_RNA|ACER3_ENST00000538157.1_Missense_Mutation_p.E45K|ACER3_ENST00000530182.1_3'UTR NM_018367.5 NP_060837.3 Q9NUN7 ACER3_HUMAN alkaline ceramidase 3 87 ceramide metabolic process|phytosphingosine biosynthetic process|positive regulation of cell proliferation|sphingosine biosynthetic process integral to endoplasmic reticulum membrane|integral to Golgi membrane phytoceramidase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1) 9 TCTGAAATATGAAATGCAGGT 0.338000 14 20 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr20:29628245G>A ENST00000278882.3 + 6 627 c.247G>A c.(247-249)Gcc>Acc p.A83T FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 4 152 0 0 1 0 0 CRTC3 64784 broad.mit.edu 37 15 91169124 91169124 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr15:91169124C>T ENST00000420329.2 + 10 1013 c.866C>T c.(865-867)tCc>tTc p.S289F RP11-387D10.2_ENST00000559531.1_RNA|CRTC3_ENST00000268184.6_Missense_Mutation_p.S289F NM_001042574.2|NM_022769.4 NP_001036039.1|NP_073606.3 Q6UUV7 CRTC3_HUMAN CREB regulated transcription coactivator 3 289 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus CRTC3/MAML2(26) breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1) 20 Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163) BRCA - Breast invasive adenocarcinoma(143;0.0745) CTGCCAGCCTCCCTGGACACC 0.547000 T MAML2 salivary gland mucoepidermoid 98 396 0 0 1 0 0 MBD3 53615 broad.mit.edu 37 19 1584638 1584638 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:1584638C>G ENST00000590550.2 - 2 514 c.141G>C c.(139-141)caG>caC p.Q47H MBD3_ENST00000434436.3_Missense_Mutation_p.Q103H|UQCR11_ENST00000585937.1_3'UTR|MBD3_ENST00000156825.1_Missense_Mutation_p.Q103H|MBD3_ENST00000585967.1_5'UTR|MBD3_ENST00000592012.1_Missense_Mutation_p.Q71H O95983 MBD3_HUMAN methyl-CpG binding domain protein 3 103 MBD. transcription, DNA-dependent NuRD complex DNA binding|protein binding central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 8 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) 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)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18) TGGACGCCGTCTGGCGCACGG 0.697000 24 37 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105420747 105420747 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr14:105420747C>T ENST00000333244.5 - 7 1160 c.1041G>A c.(1039-1041)caG>caA p.Q347Q NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 347 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCACCCCACTCTGGAACCCCC 0.667000 17 30 0 0 1 0 0 HELZ 9931 broad.mit.edu 37 17 65119214 65119214 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:65119214G>C ENST00000358691.5 - 26 3668 c.3502C>G c.(3502-3504)Ctt>Gtt p.L1168V HELZ_ENST00000580168.1_Missense_Mutation_p.L1169V NM_014877.3 NP_055692 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) TGAGGTCCAAGAGGGGGTGGA 0.433000 33 47 0 0 1 0 0 TDO2 6999 broad.mit.edu 37 4 156828902 156828902 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr4:156828902C>T ENST00000536354.2 + 4 325 c.261C>T c.(259-261)ctC>ctT p.L87L NM_005651.3 NP_005642.1 P48775 T23O_HUMAN tryptophan 2,3-dioxygenase 87 tryptophan catabolic process to kynurenine cytosol tryptophan 2,3-dioxygenase activity breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 18 all_hematologic(180;0.24) Renal(120;0.0854) KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141) L-Tryptophan(DB00150) AGCAAATCCTCTGGGAGTTGG 0.348000 17 35 0 0 1 0 0 TFPT 29844 broad.mit.edu 37 19 54618048 54618048 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:54618048G>A ENST00000391759.1 - 2 461 c.56C>T c.(55-57)tCa>tTa p.S19L TFPT_ENST00000391758.1_Missense_Mutation_p.S10L|TFPT_ENST00000391757.1_Missense_Mutation_p.S19L NM_013342.3 NP_037474.1 P0C1Z6 TFPT_HUMAN TCF3 (E2A) fusion partner (in childhood Leukemia) 19 apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|Ino80 complex DNA binding|protein binding large_intestine(2)|lung(2) 4 all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19) TGGCGGCGCTGAGAACTCCTC 0.627000 T TCF3 pre-B ALL 94 241 0 0 1 0 0 AVPI1 60370 broad.mit.edu 37 10 99437765 99437765 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr10:99437765G>A ENST00000370626.3 - 3 872 c.305C>T c.(304-306)tCt>tTt p.S102F NM_021732.2 NP_068378.2 Q5T686 AVPI1_HUMAN arginine vasopressin-induced 1 102 cell cycle breast(1)|endometrium(1)|large_intestine(2)|skin(1) 5 Colorectal(252;0.162) Epithelial(162;8.37e-11)|all cancers(201;7.94e-09) GGCCAGTGCAGAGTGGGGCTC 0.517000 32 19 0 0 1 0 0 TJP2 9414 broad.mit.edu 37 9 71836033 71836033 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:71836033C>T ENST00000377245.4 + 5 781 c.573C>T c.(571-573)ctC>ctT p.L191L TJP2_ENST00000539225.1_Silent_p.L222L|TJP2_ENST00000535702.1_Silent_p.L195L|TJP2_ENST00000348208.4_Silent_p.L191L|TJP2_ENST00000453658.2_Silent_p.L168L|TJP2_ENST00000265384.7_Silent_p.L191L NM_004817.3 NP_004808.2 Q9UDY2 ZO2_HUMAN tight junction protein 2 191 cellular component disassembly involved in apoptosis adherens junction|cytoplasm|nucleus|tight junction guanylate kinase activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 35 AGCGGGACCTCAGCCGGGACC 0.771000 5 7 0 0 1 0 0 KAT6A 7994 broad.mit.edu 37 8 41798738 41798738 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr8:41798738G>A ENST00000396930.3 - 16 3204 c.2661C>T c.(2659-2661)ctC>ctT p.L887L KAT6A_ENST00000265713.2_Silent_p.L887L|KAT6A_ENST00000406337.1_Silent_p.L887L NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 887 histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding TCTCTTCCAAGAGCAGTTTAG 0.483000 27 39 0 0 1 0 0 HOXB2 3212 broad.mit.edu 37 17 46620663 46620663 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:46620663G>A ENST00000330070.4 - 2 2005 c.838C>T c.(838-840)Cgc>Tgc p.R280C NM_002145.3 NP_002136.1 P14652 HXB2_HUMAN homeobox B2 280 blood circulation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 11 CCGGCCCCGCGCAGCGCGCAG 0.711000 15 35 0 0 1 0 0 CDH6 1004 broad.mit.edu 37 5 31323278 31323278 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr5:31323278G>A ENST00000265071.2 + 12 2501 c.2236G>A c.(2236-2238)Gtg>Atg p.V746M NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 746 adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 CACTGGCTCCGTGGCGGATTC 0.517000 27 46 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62295136 62295136 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:62295136G>A ENST00000378024.4 - 5 7027 c.6753C>T c.(6751-6753)ttC>ttT p.F2251F AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2251 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) CAGGCATGCTGAACTTGGGCA 0.527000 164 251 0 0 1 0 0 METTL23 124512 broad.mit.edu 37 17 74729258 74729258 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:74729258G>C ENST00000588783.1 + 3 640 c.283G>C c.(283-285)Gat>Cat p.D95H METTL23_ENST00000590964.1_Missense_Mutation_p.D28H|METTL23_ENST00000588302.1_Missense_Mutation_p.D28H|METTL23_ENST00000591571.1_Missense_Mutation_p.D28H|METTL23_ENST00000341249.6_Missense_Mutation_p.D95H|METTL23_ENST00000586738.1_Missense_Mutation_p.D95H|METTL23_ENST00000588822.1_Missense_Mutation_p.D28H|METTL23_ENST00000586752.1_Missense_Mutation_p.D28H|METTL23_ENST00000586200.1_Intron|METTL23_ENST00000589977.1_Missense_Mutation_p.D95H|RP11-318A15.7_ENST00000587459.1_Missense_Mutation_p.D67H NM_001080510.3|NM_001206983.1 NP_001073979.3|NP_001193912.1 Q86XA0 MET23_HUMAN methyltransferase like 23 95 integral to membrane methyltransferase activity large_intestine(2)|lung(1) 3 ACCACCACAAGATATTATCCT 0.418000 14 17 0 0 1 0 0 TBC1D7 51256 broad.mit.edu 37 6 13307937 13307937 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:13307937C>T ENST00000607658.1 - 5 629 c.479G>A c.(478-480)aGa>aAa p.R160K TBC1D7_ENST00000607532.1_5'UTR|TBC1D7_ENST00000343141.4_Missense_Mutation_p.R141K|TBC1D7_ENST00000379307.2_Missense_Mutation_p.R160K|TBC1D7_ENST00000356436.4_Missense_Mutation_p.R187K|TBC1D7_ENST00000379300.3_Missense_Mutation_p.R187K Q9P0N9 TBCD7_HUMAN TBC1 domain family, member 7 187 Rab-GAP TBC. positive regulation of protein ubiquitination cytoplasmic membrane-bounded vesicle protein binding|Rab GTPase activator activity breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1) 22 Breast(50;0.0296)|Ovarian(93;0.0339) all_hematologic(90;0.135) Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21) AGTCAGCAGTCTGCCATCTTC 0.418000 15 48 0 0 1 0 0 DYNC1I2 1781 broad.mit.edu 37 2 172582534 172582534 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:172582534C>G ENST00000534253.2 + 9 881 c.713C>G c.(712-714)tCt>tGt p.S238C DYNC1I2_ENST00000409197.1_Missense_Mutation_p.S212C|DYNC1I2_ENST00000410079.3_Missense_Mutation_p.S230C|DYNC1I2_ENST00000409317.1_Missense_Mutation_p.S232C|DYNC1I2_ENST00000409453.1_Missense_Mutation_p.S238C|DYNC1I2_ENST00000263811.4_Missense_Mutation_p.S232C|DYNC1I2_ENST00000508530.1_Missense_Mutation_p.S212C|DYNC1I2_ENST00000340296.4_Missense_Mutation_p.S212C|DYNC1I2_ENST00000358002.6_Missense_Mutation_p.S230C|DYNC1I2_ENST00000397119.3_Missense_Mutation_p.S238C|DYNC1I2_ENST00000409773.1_Missense_Mutation_p.S238C Q13409 DC1I2_HUMAN dynein, cytoplasmic 1, intermediate chain 2 238 G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport centrosome|cytosol|dynein complex|microtubule|vesicle microtubule motor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1) 15 OV - Ovarian serous cystadenocarcinoma(117;0.198) AGAGCTCTTTCTGAGCAGATT 0.343000 14 4 0 0 1 0 0 RIMS4 140730 broad.mit.edu 37 20 43385641 43385641 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr20:43385641G>A ENST00000372851.3 - 5 555 c.489C>T c.(487-489)atC>atT p.I163I RIMS4_ENST00000541604.2_Silent_p.I164I NM_001205317.1|NM_182970.3 NP_001192246.1|NP_892015.1 Q9H426 RIMS4_HUMAN regulating synaptic membrane exocytosis 4 163 C2. exocytosis|neurotransmitter transport cell junction|synapse central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1) 29 Myeloproliferative disorder(115;0.0122) TGGCAATGCAGATGCCATTCT 0.562000 171 284 0 0 1 0 0 SLC22A23 63027 broad.mit.edu 37 6 3287119 3287119 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:3287119G>A ENST00000436008.2 - 7 1982 c.1520C>T c.(1519-1521)tCa>tTa p.S507L PSMG4_ENST00000451246.2_Intron|SLC22A23_ENST00000490273.1_Missense_Mutation_p.S226L|SLC22A23_ENST00000406686.3_Missense_Mutation_p.S507L|SLC22A23_ENST00000380302.4_Missense_Mutation_p.S226L A1A5C7 S22AN_HUMAN solute carrier family 22, member 23 507 ion transport integral to membrane transmembrane transporter activity endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1) 14 Ovarian(93;0.0493) all_hematologic(90;0.0905) CTGCAGGAGTGAGGCCAGGGC 0.662000 9 16 0 0 1 0 0 POLR2B 5431 broad.mit.edu 37 4 57857008 57857008 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr4:57857008C>T ENST00000381227.1 + 4 600 c.187C>T c.(187-189)Cct>Tct p.P63S POLR2B_ENST00000431623.2_Intron|POLR2B_ENST00000314595.5_Missense_Mutation_p.P63S|POLR2B_ENST00000441246.2_Missense_Mutation_p.P56S P30876 RPB2_HUMAN polymerase (RNA) II (DNA directed) polypeptide B, 140kDa 63 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1) 52 Glioma(25;0.08)|all_neural(26;0.181) GGAAGACGCTCCTCCTATAGA 0.423000 11 33 0 0 1 0 0 GLG1 2734 broad.mit.edu 37 16 74493622 74493622 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:74493622G>A ENST00000422840.2 - 23 3101 c.3102C>T c.(3100-3102)ctC>ctT p.L1034L GLG1_ENST00000447066.2_Silent_p.L1023L|GLG1_ENST00000205061.5_Silent_p.L1034L NM_001145667.1 NP_001139139.1 Q92896 GSLG1_HUMAN golgi glycoprotein 1 1034 Golgi membrane|integral to membrane receptor binding breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1) 57 GGTTGACCTTGAGGCACTCCT 0.438000 10 18 0 0 1 0 0 NFATC2IP 84901 broad.mit.edu 37 16 28967613 28967613 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:28967613C>T ENST00000320805.4 + 5 876 c.801C>T c.(799-801)ctC>ctT p.L267L NFATC2IP_ENST00000562977.1_Intron|NFATC2IP_ENST00000564978.1_Intron NM_032815.3 NP_116204.3 Q8NCF5 NF2IP_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein 267 cytoplasm|nucleus breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2) 11 TCTTCCCACTCAAAATCCGTT 0.617000 18 27 0 0 1 0 0 MED10 84246 broad.mit.edu 37 5 6378486 6378486 + Silent SNP G G T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr5:6378486G>T ENST00000255764.3 - 1 221 c.111C>A c.(109-111)ctC>ctA p.L37L NM_032286.2 NP_115662.2 Q9BTT4 MED10_HUMAN mediator complex subunit 10 37 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|urinary_tract(1) 5 GCTTTTGGTTGAGCCCGGCCT 0.652000 12 20 3.07112e-06 3.11695e-06 1 1 0 FSCB 84075 broad.mit.edu 37 14 44974070 44974070 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr14:44974070G>A ENST00000340446.4 - 1 2412 c.2121C>T c.(2119-2121)gtC>gtT p.V707V NM_032135.3 NP_115511.3 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 707 cilium breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) CTTCTGCAGGGACATCATCAG 0.537000 9 31 0 0 1 0 0 NR2F6 2063 broad.mit.edu 37 19 17343275 17343275 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:17343275G>A ENST00000291442.3 - 4 1820 c.1101C>T c.(1099-1101)ctC>ctT p.L367L NM_005234.3 NP_005225.2 P10588 NR2F6_HUMAN nuclear receptor subfamily 2, group F, member 6 367 Important for dimerization (By similarity).|Ligand-binding (By similarity). negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(1) 5 GCTGGGAGATGAGGGAGGCAG 0.667000 22 34 0 0 1 0 0 CDK1 983 broad.mit.edu 37 10 62545481 62545481 + Missense_Mutation SNP T T C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr10:62545481T>C ENST00000448257.2 + 4 455 c.254T>C c.(253-255)aTg>aCg p.M85T CDK1_ENST00000395284.3_Missense_Mutation_p.M85T|CDK1_ENST00000316629.4_Missense_Mutation_p.M85T|CDK1_ENST00000373809.2_Missense_Mutation_p.M85T P06493 CDK1_HUMAN cyclin-dependent kinase 1 85 Protein kinase. activation of MAPK activity|activation of MAPKK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|axon guidance|cell division|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|mitosis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein localization to kinetochore|Ras protein signal transduction|regulation of transcription involved in G1/S phase of mitotic cell cycle|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|midbody|nucleoplasm|spindle microtubule ATP binding|cyclin-dependent protein kinase activity|RNA polymerase II carboxy-terminal domain kinase activity ovary(1) 1 TTTCTTTCCATGGATCTGAAG 0.348000 46 104 0 0 1 0 0 PNPT1 87178 broad.mit.edu 37 2 55920859 55920859 + Missense_Mutation SNP G G T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:55920859G>T ENST00000447944.2 - 1 186 c.100C>A c.(100-102)Caa>Aaa p.Q34K NM_033109.3 NP_149100.2 Q8TCS8 PNPT1_HUMAN polyribonucleotide nucleotidyltransferase 1 34 mRNA catabolic process|RNA processing plasma membrane 3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1) 27 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) GCTCGCACTTGCAACTGGGTG 0.612000 46 97 4.21674e-32 4.4049e-32 1 1 0 PRELID1 27166 broad.mit.edu 37 5 176731776 176731776 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr5:176731776G>A ENST00000303204.4 + 2 455 c.243G>A c.(241-243)ctG>ctA p.L81L PRELID1_ENST00000502670.1_3'UTR|PRELID1_ENST00000503216.1_Silent_p.L81L Q9Y255 PRLD1_HUMAN PRELI domain containing 1 81 PRELI/MSF1. immune response|multicellular organismal development mitochondrion|nucleus endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1) 7 all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGTACGTCCTGGAGGACTCTA 0.552000 20 29 0 0 1 0 0 HERC1 8925 broad.mit.edu 37 15 63988351 63988351 + Missense_Mutation SNP C C A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr15:63988351C>A ENST00000443617.2 - 27 5180 c.5093G>T c.(5092-5094)gGa>gTa p.G1698V RP11-317G6.1_ENST00000559303.2_RNA NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 1698 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 GCCACTCTCTCCCTTGCCTCC 0.458000 10 12 6.40141e-05 6.46479e-05 1 1 0 ZNF468 90333 broad.mit.edu 37 19 53345155 53345155 + Missense_Mutation SNP G G T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:53345155G>T ENST00000595646.1 - 4 512 c.392C>A c.(391-393)gCt>gAt p.A131D ZNF468_ENST00000390651.4_Missense_Mutation_p.A78D|ZNF468_ENST00000396409.4_Missense_Mutation_p.A78D|ZNF468_ENST00000243639.4_3'UTR|ZNF28_ENST00000594602.1_Intron Q5VIY5 ZN468_HUMAN zinc finger protein 468 131 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1) 23 GBM - Glioblastoma multiforme(134;0.0358) CTTGTTTCCAGCATGCCTTTG 0.423000 5 293 1 1 1 1 0 ANKRD30B 374860 broad.mit.edu 37 18 14852240 14852240 + Nonsense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr18:14852240C>T ENST00000358984.4 + 36 4120 c.3940C>T c.(3940-3942)Cga>Tga p.R1314* NM_001145029.1 NP_001138501.1 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 1399 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 TAGGTGGCTTCGACAGCAATT 0.348000 3 4 0 0 1 0 0 BRMS1 25855 broad.mit.edu 37 11 66108686 66108686 + Nonsense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:66108686G>A ENST00000359957.3 - 4 509 c.349C>T c.(349-351)Cag>Tag p.Q117* BRMS1_ENST00000425825.2_Nonsense_Mutation_p.Q117* NM_015399.3 NP_056214.1 Q9HCU9 BRMS1_HUMAN breast cancer metastasis suppressor 1 117 apoptosis|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent cytoplasm|nucleus NF-kappaB binding large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1) 5 CCTGCCACCTGAATGCGAATC 0.642000 44 59 0 0 1 0 0 SRRM2 23524 broad.mit.edu 37 16 2815189 2815189 + Nonsense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:2815189C>T ENST00000301740.8 + 11 5209 c.4660C>T c.(4660-4662)Cag>Tag p.Q1554* NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 1554 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 TGCATCCCCTCAGGAAAGAAG 0.512000 21 58 0 0 1 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20582438 20582438 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr20:20582438G>A ENST00000202677.7 - 16 2098 c.2091C>T c.(2089-2091)ctC>ctT p.L697L RALGAPA2_ENST00000495793.1_5'UTR NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 TCCGCCAGCTGAGAGAAAAGG 0.478000 25 29 0 0 1 0 0 LIMD1 8994 broad.mit.edu 37 3 45636841 45636841 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:45636841C>T ENST00000273317.4 + 1 491 c.470C>T c.(469-471)tCt>tTt p.S157F LIMD1_ENST00000440097.1_Missense_Mutation_p.S157F|LIMD1_ENST00000465039.1_Intron NM_014240.2 NP_055055.1 Q9UGP4 LIMD1_HUMAN LIM domains containing 1 157 cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex protein binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 10 BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315) CTGGCGACTTCTGAGATGTCT 0.597000 48 61 0 0 1 0 0 PPCS 79717 broad.mit.edu 37 1 42922574 42922574 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:42922574C>T ENST00000372561.3 + 1 345 c.338C>T c.(337-339)tCg>tTg p.S113L PPCS_ENST00000472013.1_3'UTR|PPCS_ENST00000372556.3_Intron|PPCS_ENST00000372562.1_Intron|PPCS_ENST00000372560.3_Missense_Mutation_p.S113L|PPCS_ENST00000455780.1_Intron NM_024664.2 NP_078940.2 Q9HAB8 PPCS_HUMAN phosphopantothenoylcysteine synthetase 113 coenzyme biosynthetic process|pantothenate metabolic process cytosol phosphopantothenate--cysteine ligase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3) 12 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CCAGCCCTTTCGGGCTTGCTG 0.647000 71 92 0 0 1 0 0 FYCO1 79443 broad.mit.edu 37 3 46008455 46008455 + Nonsense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:46008455G>A ENST00000296137.2 - 8 2576 c.2371C>T c.(2371-2373)Cag>Tag p.Q791* FYCO1_ENST00000535325.1_Nonsense_Mutation_p.Q791* NM_024513.3 NP_078789.2 Q9BQS8 FYCO1_HUMAN FYVE and coiled-coil domain containing 1 791 transport integral to membrane metal ion binding|protein binding NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 54 BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323) TCCACCACCTGAGCCTGCAGC 0.642000 26 49 0 0 1 0 0 TMEM206 55248 broad.mit.edu 37 1 212553308 212553308 + Silent SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:212553308C>G ENST00000261455.4 - 5 704 c.567G>C c.(565-567)ctG>ctC p.L189L TMEM206_ENST00000535273.1_Silent_p.L250L NM_018252.2 NP_060722.2 Q9H813 TM206_HUMAN transmembrane protein 206 189 integral to membrane breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2) 17 all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148) TACTCTTGTTCAGGCGGAACT 0.517000 19 77 0 0 1 0 0 HSP90AB1 3326 broad.mit.edu 37 6 44216418 44216418 + Nonsense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:44216418C>T ENST00000371554.1 + 2 266 c.52C>T c.(52-54)Cag>Tag p.Q18* HSP90AB1_ENST00000371646.5_Nonsense_Mutation_p.Q18*|HSP90AB1_ENST00000353801.3_Nonsense_Mutation_p.Q18* P08238 HS90B_HUMAN heat shock protein 90kDa alpha (cytosolic), class B member 1 18 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding p.Q18*(2) NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2) 33 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TTTTGCCTTTCAGGCAGAAAT 0.423000 30 89 0 0 1 0 0 HOXA13 3209 broad.mit.edu 37 7 27237917 27237917 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr7:27237917G>A ENST00000222753.4 - 2 1095 c.1067C>T c.(1066-1068)tCa>tTa p.S356L NM_000522.4 NP_000513.2 P31271 HXA13_HUMAN homeobox A13 356 skeletal system development nucleus sequence-specific DNA binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 6 CGTCGTGGCTGATATCCGCCT 0.433000 T NUP98 AML 5 245 0 0 1 0 0 NFATC2 4773 broad.mit.edu 37 20 50139941 50139941 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr20:50139941G>A ENST00000371564.3 - 2 1058 c.839C>T c.(838-840)tCa>tTa p.S280L NFATC2_ENST00000414705.1_Missense_Mutation_p.S260L|NFATC2_ENST00000396009.3_Missense_Mutation_p.S280L|NFATC2_ENST00000609507.1_Missense_Mutation_p.S61L|NFATC2_ENST00000610033.1_Missense_Mutation_p.S61L|NFATC2_ENST00000609943.1_Missense_Mutation_p.S260L NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 280 3 X approximate SP repeats. B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) CACGTGAGATGAGGGCTGCGG 0.716000 13 25 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120586011 120586011 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr12:120586011G>A ENST00000300648.6 - 37 4698 c.4686C>T c.(4684-4686)ctC>ctT p.L1562L NM_006836.1 NP_006827 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 1562 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CGATCTGCCTGAGCGCCTGCT 0.597000 12 25 0 0 1 0 0 SGPL1 8879 broad.mit.edu 37 10 72636307 72636307 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr10:72636307C>T ENST00000373202.3 + 14 1655 c.1455C>T c.(1453-1455)ttC>ttT p.F485F NM_003901.3 NP_003892.2 O95470 SGPL1_HUMAN sphingosine-1-phosphate lyase 1 485 apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process integral to endoplasmic reticulum membrane carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity large_intestine(4) 4 Pyridoxal Phosphate(DB00114) GTATTCATTTCTGCATCACAT 0.393000 20 20 0 0 1 0 0 GCAT 23464 broad.mit.edu 37 22 38211178 38211178 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr22:38211178G>A ENST00000323205.6 + 5 763 c.700G>A c.(700-702)Gat>Aat p.D234N GCAT_ENST00000248924.6_Missense_Mutation_p.D208N NM_001171690.1 NP_001165161.1 O75600 KBL_HUMAN glycine C-acetyltransferase 208 biosynthetic process|cellular amino acid metabolic process glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 12 Melanoma(58;0.045) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) CTTTTCCATGGATGGCGACAT 0.597000 10 51 0 0 1 0 0 SIX4 51804 broad.mit.edu 37 14 61180839 61180839 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr14:61180839G>A ENST00000216513.4 - 3 1691 c.1632C>T c.(1630-1632)ttC>ttT p.F544F NM_017420.4 NP_059116.3 Q9UIU6 SIX4_HUMAN SIX homeobox 4 544 nucleus breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 OV - Ovarian serous cystadenocarcinoma(108;0.0275) GAGAGCTCAAGAAAACCTTTC 0.433000 17 37 0 0 1 0 0 ATR 545 broad.mit.edu 37 3 142215323 142215323 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:142215323C>G ENST00000350721.4 - 34 5899 c.5778G>C c.(5776-5778)caG>caC p.Q1926H ATR_ENST00000383101.3_Missense_Mutation_p.Q1862H NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 1926 FAT. cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity p.Q1926H(1) NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 CCCTGGCACTCTGCAGCCAGC 0.473000 Other conserved DNA damage response genes 36 43 0 0 1 0 0 RPRD2 23248 broad.mit.edu 37 1 150443406 150443406 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:150443406C>T ENST00000401000.4 + 10 1969 c.1904C>T c.(1903-1905)tCa>tTa p.S635L RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.S661L|RPRD2_ENST00000539519.1_Missense_Mutation_p.S635L Q5VT52 RPRD2_HUMAN regulation of nuclear pre-mRNA domain containing 2 661 Ser-rich. protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 AAGCTGGAGTCAGAGTCCACC 0.473000 37 70 0 0 1 0 0 BAG6 7917 broad.mit.edu 37 6 31612317 31612317 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:31612317G>A ENST00000404765.2 - 11 1721 c.1432C>T c.(1432-1434)Cat>Tat p.H478Y BAG6_ENST00000375976.4_Missense_Mutation_p.H478Y|BAG6_ENST00000362049.6_Missense_Mutation_p.H478Y|BAG6_ENST00000211379.5_Missense_Mutation_p.H478Y|BAG6_ENST00000439687.2_Missense_Mutation_p.H478Y|BAG6_ENST00000375964.6_Missense_Mutation_p.H484Y P46379 BAG6_HUMAN BCL2-associated athanogene 6 484 4 X 29 AA approximate repeats.|Pro-rich. apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process BAT3 complex|nucleus polyubiquitin binding|proteasome binding|ribosome binding breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2) 36 GTTTGGCCATGACCAGGGGGT 0.622000 6 34 0 0 1 0 0 ZHX3 23051 broad.mit.edu 37 20 39831062 39831062 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr20:39831062C>T ENST00000309060.3 - 4 2910 c.2495G>A c.(2494-2496)cGa>cAa p.R832Q ZHX3_ENST00000432768.2_Missense_Mutation_p.R832Q|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000560361.1_Missense_Mutation_p.R832Q|ZHX3_ENST00000540170.1_Missense_Mutation_p.R832Q|ZHX3_ENST00000544979.2_Missense_Mutation_p.R832Q|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000559234.1_Missense_Mutation_p.R832Q Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 832 negative regulation of transcription, DNA-dependent cytoplasm|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 Myeloproliferative disorder(115;0.00425) GAAGTTGCCTCGCTTATAGTC 0.562000 50 129 0 0 1 0 0 ZNF561 93134 broad.mit.edu 37 19 9721764 9721764 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:9721764G>A ENST00000302851.3 - 6 936 c.573C>T c.(571-573)ctC>ctT p.L191L ZNF561_ENST00000495503.1_5'UTR|ZNF561_ENST00000326044.5_3'UTR|ZNF561_ENST00000424629.1_Silent_p.L122L|ZNF561_ENST00000354661.4_Silent_p.L55L NM_152289.2 NP_689502.2 Q8N587 ZN561_HUMAN zinc finger protein 561 191 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1) 14 GTCTTGCATTGAGAACTTCAA 0.393000 20 28 0 0 1 0 0 NUDT5 11164 broad.mit.edu 37 10 12226948 12226948 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr10:12226948G>A ENST00000491614.1 - 3 466 c.71C>T c.(70-72)tCa>tTa p.S24L NUDT5_ENST00000378940.3_Missense_Mutation_p.S24L|NUDT5_ENST00000537776.1_Missense_Mutation_p.S24L|NUDT5_ENST00000378937.3_Missense_Mutation_p.S24L|NUDT5_ENST00000378952.3_5'UTR|NUDT5_ENST00000378927.3_Missense_Mutation_p.S24L Q9UKK9 NUDT5_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 5 24 D-ribose catabolic process|ribonucleoside diphosphate catabolic process intracellular ADP-ribose diphosphatase activity|magnesium ion binding breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1) 8 Renal(717;0.228) TTTTCCTTCTGAAATTAACTA 0.313000 10 21 0 0 1 0 0 MRFAP1 93621 broad.mit.edu 37 4 6642607 6642607 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr4:6642607C>T ENST00000320912.4 + 2 671 c.18C>T c.(16-18)atC>atT p.I6I MRFAP1_ENST00000382581.4_Silent_p.I6I|MRFAP1_ENST00000507420.1_Silent_p.I6I NM_001272053.1 NP_001258982.1 Q9Y605 MOFA1_HUMAN Morf4 family associated protein 1 6 nucleus|perinuclear region of cytoplasm protein binding lung(1) 1 CCCTGGACATCGTCGAGCTGG 0.582000 40 145 0 0 1 0 0 SIAH1 6477 broad.mit.edu 37 16 48395835 48395835 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:48395835C>T ENST00000380006.2 - 1 1958 c.505G>A c.(505-507)Gac>Aac p.D169N SIAH1_ENST00000356721.3_Missense_Mutation_p.D200N|SIAH1_ENST00000394725.2_Missense_Mutation_p.D169N Q8IUQ4 SIAH1_HUMAN siah E3 ubiquitin protein ligase 1 169 SBD. axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis beta-catenin destruction complex|cytosol|nucleus protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1) 7 all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238) AGATTAATGTCTGTAGCAAGA 0.428000 9 50 0 0 1 0 0 RIN1 9610 broad.mit.edu 37 11 66100827 66100827 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:66100827C>T ENST00000311320.4 - 9 1903 c.1777G>A c.(1777-1779)Ggt>Agt p.G593S RIN1_ENST00000524804.1_5'UTR|RIN1_ENST00000424433.2_Missense_Mutation_p.G488S|RIN1_ENST00000530056.1_Missense_Mutation_p.G427S NM_004292.2 NP_004283.2 Q13671 RIN1_HUMAN Ras and Rab interactor 1 593 Ras and 14-3-3 protein binding region.|VPS9. endocytosis|signal transduction cytoplasm|cytoskeleton|plasma membrane GTPase activator activity|protein binding breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1) 14 TGGGCCTGACCCAGGCCACTC 0.687000 20 42 0 0 1 0 0 JADE1 79960 broad.mit.edu 37 4 129764159 129764159 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr4:129764159C>G ENST00000226319.6 + 3 384 c.104C>G c.(103-105)tCc>tGc p.S35C PHF17_ENST00000512960.1_Missense_Mutation_p.S35C|PHF17_ENST00000511647.1_Missense_Mutation_p.S35C|PHF17_ENST00000413543.2_Missense_Mutation_p.S35C|PHF17_ENST00000452328.2_Missense_Mutation_p.S35C NM_199320.2 NP_955352.1 Q6IE81 JADE1_HUMAN 35 apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent histone acetyltransferase complex|mitochondrion protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 AGGAGAAGCTCCTGCTCCAGA 0.448000 19 30 0 0 1 0 0 SERF2 10169 broad.mit.edu 37 15 44085187 44085187 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr15:44085187G>A ENST00000381359.1 + 4 951 c.22G>A c.(22-24)Gag>Aag p.E8K SERF2_ENST00000409646.1_Missense_Mutation_p.E8K|SERF2_ENST00000409614.1_5'UTR|RP11-296A16.1_ENST00000417761.2_Intron|SERF2_ENST00000403425.1_5'UTR|SERF2_ENST00000594896.1_5'UTR|SERF2_ENST00000409291.1_5'UTR|SERF2_ENST00000409960.2_Missense_Mutation_p.E8K|SERF2_ENST00000339624.5_Missense_Mutation_p.E8K|SERF2_ENST00000402131.1_5'UTR|SERF2_ENST00000249786.4_Missense_Mutation_p.E8K NM_001199877.1 NP_001186806.1 P84101 SERF2_HUMAN small EDRK-rich factor 2 8 cytosol|nucleus lung(1) 1 all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;7.81e-07) TAACCAGCGTGAGCTCGCCCG 0.612000 6 8 0 0 1 0 0 UPK3B 80761 broad.mit.edu 37 7 76143381 76143381 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr7:76143381C>T ENST00000443097.2 + 5 884 c.659C>T c.(658-660)tCt>tTt p.S220F UPK3B_ENST00000334348.3_Missense_Mutation_p.S220F|UPK3B_ENST00000419923.2_Silent_p.L248L|UPK3B_ENST00000394849.1_Silent_p.L193L|UPK3B_ENST00000448265.3_Silent_p.L248L|UPK3B_ENST00000257632.5_Silent_p.L248L Q9BT76 UPK3B_HUMAN uroplakin 3B 0 negative regulation of gene expression integral to membrane|plasma membrane breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2) 8 Myeloproliferative disorder(862;0.204) TTGGCAGCCTCTACCATGCGC 0.617000 25 106 0 0 1 0 0 PARP4 143 broad.mit.edu 37 13 25074464 25074464 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr13:25074464C>G ENST00000381989.3 - 4 496 c.391G>C c.(391-393)Gaa>Caa p.E131Q NM_006437.3 NP_006428.2 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 131 cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) TCAGTGAGTTCCACAGTGTCT 0.398000 45 22 0 0 1 0 0 MRFAP1L1 114932 broad.mit.edu 37 4 6711006 6711006 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr4:6711006G>A ENST00000320848.6 - 1 601 c.351C>T c.(349-351)ctC>ctT p.L117L NM_203462.2 NP_982287.1 Q96HT8 MR1L1_HUMAN Morf4 family associated protein 1-like 1 117 TTCGCCAGACGAGCTCGACCA 0.547000 28 76 0 0 1 0 0 ZNF500 26048 broad.mit.edu 37 16 4815843 4815843 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:4815843G>A ENST00000219478.6 - 2 436 c.137C>T c.(136-138)cCt>cTt p.P46L ZNF500_ENST00000545009.1_Missense_Mutation_p.P46L O60304 ZN500_HUMAN zinc finger protein 500 46 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 21 GAAAGTCTCAGGGCTGGGGTC 0.642000 11 41 0 0 1 0 0 BCCIP 56647 broad.mit.edu 37 10 127512234 127512234 + Silent SNP T T C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr10:127512234T>C ENST00000299130.3 + 1 120 c.108T>C c.(106-108)gaT>gaC p.D36D BCCIP_ENST00000429863.2_Silent_p.D36D|BCCIP_ENST00000278100.6_Silent_p.D36D|BCCIP_ENST00000368759.5_Silent_p.D36D NM_078469.2 NP_510869.1 Q9P287 BCCIP_HUMAN BRCA2 and CDKN1A interacting protein 36 cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity nuclear cyclin-dependent protein kinase holoenzyme complex kinase regulator activity|protein binding breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1) 8 all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936) aaaatgaggatgaagacgatg 0.537000 33 24 0 0 1 0 0 RASGRF1 5923 broad.mit.edu 37 15 79273026 79273026 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr15:79273026C>T ENST00000419573.3 - 25 3752 c.3478G>A c.(3478-3480)Gat>Aat p.D1160N RASGRF1_ENST00000560334.1_5'UTR|RP11-16K12.1_ENST00000316148.4_RNA|RASGRF1_ENST00000394745.3_Missense_Mutation_p.D376N|RASGRF1_ENST00000558480.2_Missense_Mutation_p.D1144N NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 1162 Ras-GEF. activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 TGGAGCTTATCAATCAAAGCT 0.448000 14 21 0 0 1 0 0 RPS6KA2 6196 broad.mit.edu 37 6 166952227 166952227 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:166952227C>G ENST00000510118.1 - 4 560 c.220G>C c.(220-222)Gag>Cag p.E74Q RPS6KA2_ENST00000405189.3_5'UTR|RPS6KA2_ENST00000481261.2_5'UTR|RPS6KA2_ENST00000366863.2_5'UTR|RPS6KA2_ENST00000265678.4_Missense_Mutation_p.E49Q|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.E57Q Q15349 KS6A2_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 2 49 Protein kinase 1. axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05) TCAAAGCCCTCCTTCACATGA 0.537000 27 27 0 0 1 0 0 RPL31P11 641311 broad.mit.edu 37 1 161654839 161654839 + RNA SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:161654839C>T ENST00000426558.1 - 0 203 NR_002595.1 CCATCTCCTTCATGCCAAATT 0.507000 9 14 0 0 1 0 0 WARS 7453 broad.mit.edu 37 14 100820867 100820867 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr14:100820867C>G ENST00000355338.2 - 5 1077 c.459G>C c.(457-459)aaG>aaC p.K153N WARS_ENST00000344102.5_Missense_Mutation_p.K112N|WARS_ENST00000557135.1_Missense_Mutation_p.K153N|WARS_ENST00000392882.2_Missense_Mutation_p.K153N|WARS_ENST00000554084.1_5'UTR|WARS_ENST00000358655.4_Missense_Mutation_p.K112N|WARS_ENST00000556645.1_Missense_Mutation_p.K112N NM_173701.1 NP_776049.1 P23381 SYWC_HUMAN tryptophanyl-tRNA synthetase 153 angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|protein binding|tryptophan-tRNA ligase activity breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 20 all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152) L-Tryptophan(DB00150) AAAATGGCTTCTTATTTTCAT 0.388000 29 46 0 0 1 0 0 USH1C 10083 broad.mit.edu 37 11 17548813 17548813 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:17548813G>A ENST00000005226.7 - 5 452 c.453C>T c.(451-453)atC>atT p.I151I USH1C_ENST00000527020.1_Silent_p.I151I|USH1C_ENST00000318024.4_Silent_p.I151I|USH1C_ENST00000527720.1_Silent_p.I120I NM_153676.3 NP_710142.1 Q9Y6N9 USH1C_HUMAN Usher syndrome 1C (autosomal recessive, severe) 151 PDZ 1. equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 48 GAATGAGGTTGATGACCTCCT 0.562000 30 55 0 0 1 0 0 TEX15 56154 broad.mit.edu 37 8 30704952 30704952 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr8:30704952C>T ENST00000256246.2 - 1 1656 c.1582G>A c.(1582-1584)Gaa>Aaa p.E528K NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 528 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) CTCAAAATTTCTATATTGTGG 0.318000 21 36 0 0 1 0 0 FASN 2194 broad.mit.edu 37 17 80042141 80042141 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:80042141G>A ENST00000306749.2 - 28 5106 c.4888C>T c.(4888-4890)Ccg>Tcg p.P1630S NM_004104.4 NP_004095.4 P49327 FAS_HUMAN fatty acid synthase 1630 energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1) 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) AGGAAGTCCGGTGACAGCAGG 0.657000 5 31 0 0 1 0 0 ZHX3 23051 broad.mit.edu 37 20 39832404 39832404 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr20:39832404G>C ENST00000309060.3 - 4 1568 c.1153C>G c.(1153-1155)Cag>Gag p.Q385E ZHX3_ENST00000432768.2_Missense_Mutation_p.Q385E|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000560361.1_Missense_Mutation_p.Q385E|ZHX3_ENST00000540170.1_Missense_Mutation_p.Q385E|ZHX3_ENST00000544979.2_Missense_Mutation_p.Q385E|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000559234.1_Missense_Mutation_p.Q385E Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 385 Required for homodimerization and interaction with NFYA.|Required for repressor activity. negative regulation of transcription, DNA-dependent cytoplasm|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 Myeloproliferative disorder(115;0.00425) ATTGTGGGCTGAGGCACAGAC 0.557000 52 74 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73679098 73679098 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:73679098C>T ENST00000264448.6 + 8 5552 c.5441C>T c.(5440-5442)tCc>tTc p.S1814F ALMS1_ENST00000377715.1_Missense_Mutation_p.S1814F|ALMS1_ENST00000409009.1_Missense_Mutation_p.S1772F NM_015120.4 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 1814 34 X 47 AA approximate tandem repeat. 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 CCCATTGTTTCCTACCAGCGA 0.463000 89 111 0 0 1 0 0 IFNA2 3440 broad.mit.edu 37 9 21384831 21384831 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:21384831G>A ENST00000380206.2 - 1 565 c.498C>T c.(496-498)gtC>gtT p.V166V NM_000605.3 NP_000596.2 P01563 IFNA2_HUMAN interferon, alpha 2 166 blood coagulation|cell-cell signaling|induction of apoptosis|inflammatory response|negative regulation of interleukin-13 secretion|negative regulation of interleukin-5 secretion|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of transcription, DNA-dependent|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding breast(2)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1) 13 Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173) Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022) TTTCTGCTCTGACAACCTCCC 0.383000 90 220 0 0 1 0 0 ACIN1 22985 broad.mit.edu 37 14 23549689 23549689 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr14:23549689G>A ENST00000262710.1 - 6 1356 c.1029C>T c.(1027-1029)tcC>tcT p.S343S ACIN1_ENST00000555053.1_Silent_p.S343S|ACIN1_ENST00000605057.1_Silent_p.S285S|ACIN1_ENST00000457657.1_Silent_p.S303S NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 343 Glu-rich. apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) CCTCTTCCTGGGATCTTGTAA 0.443000 23 56 0 0 1 0 0 POLG 5428 broad.mit.edu 37 15 89865068 89865068 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr15:89865068C>T ENST00000268124.5 - 16 2830 c.2497G>A c.(2497-2499)Gag>Aag p.E833K POLG_ENST00000442287.2_Missense_Mutation_p.E833K NM_001126131.1|NM_002693.2 NP_001119603.1|NP_002684.1 P54098 DPOG1_HUMAN polymerase (DNA directed), gamma 833 base-excision repair, gap-filling|cell death|DNA-dependent DNA replication mitochondrial nucleoid DNA binding|DNA-directed DNA polymerase activity|protease binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2) 33 Lung NSC(78;0.0472)|all_lung(78;0.089) STAD - Stomach adenocarcinoma(125;0.165) AGGCCTTCCTCATCATAGTCG 0.622000 DNA polymerases (catalytic subunits) 20 52 0 0 1 0 0 VPS72 6944 broad.mit.edu 37 1 151158411 151158411 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:151158411C>T ENST00000354473.4 - 2 169 c.133G>A c.(133-135)Gag>Aag p.E45K VPS72_ENST00000496809.1_5'UTR Q15906 VPS72_HUMAN vacuolar protein sorting 72 homolog (S. cerevisiae) 45 Asp/Glu-rich (acidic). chromatin modification|negative regulation of transcription from RNA polymerase II promoter nucleus|protein complex DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 14 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CCTTGATACTCATCATCTCCG 0.498000 15 60 0 0 1 0 0 UNC5C 8633 broad.mit.edu 37 4 96104184 96104184 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr4:96104184C>G ENST00000453304.1 - 14 2663 c.2315G>C c.(2314-2316)gGa>gCa p.G772A NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 772 apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) TCTTTGAGATCCACTCCAAAC 0.433000 4 100 0 0 1 0 0 UNC93A 54346 broad.mit.edu 37 6 167728848 167728848 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:167728848G>C ENST00000230256.3 + 8 1457 c.1282G>C c.(1282-1284)Gtg>Ctg p.V428L UNC93A_ENST00000366829.2_Missense_Mutation_p.V386L NM_018974.3 NP_061847.2 Q86WB7 UN93A_HUMAN unc-93 homolog A (C. elegans) 428 integral to membrane|plasma membrane breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 40 Breast(66;7.62e-05)|Ovarian(120;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) GTATGGGCTTGTGGAGTGCGT 0.537000 113 163 0 0 1 0 0 NEFM 4741 broad.mit.edu 37 8 24776069 24776069 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr8:24776069G>C ENST00000221166.5 + 3 3483 c.2701G>C c.(2701-2703)Gaa>Caa p.E901Q NEFM_ENST00000433454.2_Missense_Mutation_p.E525Q|NEFM_ENST00000437366.2_Missense_Mutation_p.E862Q|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000518131.1_Missense_Mutation_p.E683Q P07197 NFM_HUMAN neurofilament, medium polypeptide 901 Tail. neurofilament protein binding|structural constituent of cytoskeleton breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1) 36 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) TAAAAAGGTAGAAAAAGTCAC 0.388000 58 141 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90383903 90383903 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:90383903C>G ENST00000369393.3 - 79 13282 c.13167G>C c.(13165-13167)gaG>gaC p.E4389D RP1-122O8.7_ENST00000438877.1_RNA|MDN1_ENST00000428876.1_Missense_Mutation_p.E4389D Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 4389 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TTTTTAGCATCTCTGTTAATC 0.443000 16 19 0 0 1 0 0 HLX 3142 broad.mit.edu 37 1 221054599 221054599 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:221054599C>T ENST00000366903.6 + 2 2157 c.656C>T c.(655-657)tCg>tTg p.S219L HLX_ENST00000549319.1_5'UTR NM_021958.3 NP_068777.1 Q14774 HLX_HUMAN H2.0-like homeobox 219 cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GBM - Glioblastoma multiforme(131;0.00914) CTGCAGCCCTCGGCCGGCCAG 0.562000 36 112 0 0 1 0 0 SCN4A 6329 broad.mit.edu 37 17 62022936 62022936 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:62022936G>A ENST00000435607.1 - 19 3580 c.3504C>T c.(3502-3504)ctC>ctT p.L1168L SCN4A_ENST00000578147.1_Silent_p.L1168L NM_000334.4 NP_000325.4 P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 1168 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) GCCAGAAGATGAGGCAGACAA 0.577000 144 174 0 0 1 0 0 DMXL1 1657 broad.mit.edu 37 5 118483001 118483001 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr5:118483001C>G ENST00000311085.8 + 17 2827 c.2747C>G c.(2746-2748)tCt>tGt p.S916C DMXL1_ENST00000539542.1_Missense_Mutation_p.S916C NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 916 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) GAACATTATTCTTCTTCTCCA 0.398000 13 47 0 0 1 0 0 SPATA20 64847 broad.mit.edu 37 17 48627617 48627617 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:48627617G>C ENST00000006658.6 + 9 1162 c.1042G>C c.(1042-1044)Gag>Cag p.E348Q SPATA20_ENST00000356488.4_Missense_Mutation_p.E332Q|SPATA20_ENST00000393244.3_Missense_Mutation_p.E288Q|SPATA20_ENST00000511937.1_3'UTR NM_022827.3 NP_073738.2 Q8TB22 SPT20_HUMAN spermatogenesis associated 20 332 cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis extracellular region mannose-6-phosphate isomerase activity|protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;9.38e-09) CCCTCACTTTGAGAAGATGCT 0.612000 OREG0024568 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 43 95 0 0 1 0 0 SRMS 6725 broad.mit.edu 37 20 62173800 62173800 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr20:62173800G>A ENST00000217188.1 - 4 820 c.780C>T c.(778-780)atC>atT p.I260I NM_080823.2 NP_543013.1 Q9H3Y6 SRMS_HUMAN src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites 260 Protein kinase. ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1) 19 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06) CACCTGACTTGATGACCTTGA 0.662000 9 30 0 0 1 0 0 CLEC16A 23274 broad.mit.edu 37 16 11097102 11097102 + Missense_Mutation SNP G G A rs74163613 TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:11097102G>A ENST00000409790.1 + 11 1473 c.1243G>A c.(1243-1245)Gag>Aag p.E415K CLEC16A_ENST00000409552.3_Missense_Mutation_p.E413K NM_015226.2 NP_056041.1 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 415 breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 AGAAGACGCCGAGAAGGCTAA 0.572000 8 41 0 0 1 0 0 LARP1 23367 broad.mit.edu 37 5 154183259 154183259 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr5:154183259C>T ENST00000336314.4 + 13 2186 c.2162C>T c.(2161-2163)tCa>tTa p.S721L NM_015315.3 NP_056130.2 Q6PKG0 LARP1_HUMAN La ribonucleoprotein domain family, member 1 798 protein binding|RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) AGCCAGACATCACGGTTTTAC 0.557000 24 58 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129901806 129901806 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr10:129901806C>T ENST00000368654.3 - 13 8673 c.8298G>A c.(8296-8298)ttG>ttA p.L2766L MKI67_ENST00000368653.3_Silent_p.L2406L NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 2766 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) CAGATTCCTTCAATGCTTTGA 0.502000 48 45 0 0 1 0 0 BRD8 10902 broad.mit.edu 37 5 137485477 137485477 + Nonsense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr5:137485477G>A ENST00000254900.5 - 23 3501 c.3130C>T c.(3130-3132)Cag>Tag p.Q1044* NM_139199.1 NP_631938 Q9H0E9 BRD8_HUMAN bromodomain containing 8 1044 cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter mitochondrion|NuA4 histone acetyltransferase complex sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1) 35 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) GATTCTTGCTGAGCCTCCCCC 0.453000 5 84 0 0 1 0 0 CDK12 51755 broad.mit.edu 37 17 37687226 37687226 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:37687226C>T ENST00000447079.4 + 14 4163 c.4130C>T c.(4129-4131)tCa>tTa p.S1377L CDK12_ENST00000430627.2_Missense_Mutation_p.S1368L NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 1377 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 AGGACCTTCTCAGGCTCTCTG 0.562000 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 18 43 0 0 1 0 0 C1QTNF4 114900 broad.mit.edu 37 11 47611502 47611502 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:47611502G>A ENST00000302514.3 - 2 1377 c.861C>T c.(859-861)ctC>ctT p.L287L NM_031909.2 NP_114115.2 Q9BXJ3 C1QT4_HUMAN C1q and tumor necrosis factor related protein 4 287 C1q 2. extracellular region breast(2)|endometrium(1)|kidney(1)|lung(2) 6 GGTCGTGGCTGAGCAGCCAGA 0.701000 7 17 0 0 1 0 0 MIR3654 100500804 broad.mit.edu 37 11 62358934 62358934 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:62358934G>A ENST00000496634.2 - 1 69 c.24C>T c.(22-24)gtC>gtT p.V8V TUT1_ENST00000476907.1_Silent_p.V8V|TUT1_ENST00000308436.7_Silent_p.V46V NS(1) 1 GCAGCGATTCGACATCCGAAT 0.627000 24 37 0 0 1 0 0 ULK4 54986 broad.mit.edu 37 3 41877425 41877425 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:41877425G>A ENST00000301831.4 - 18 2157 c.1695C>T c.(1693-1695)ttC>ttT p.F565F NM_017886.2 NP_060356.2 Q96C45 ULK4_HUMAN unc-51 like kinase 4 565 AIVLLTELIRENFRNSKLKQCLLPTLGE -> TTSSIGIGI LNCLVQHSTPVPRQCLVYV (in Ref. 3; AAH14794). ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(284;0.214) TGCTGTTCCTGAAGTTTTCCC 0.358000 23 70 0 0 1 0 0 LOC101929735 101929735 broad.mit.edu 37 14 22929923 22929923 + RNA SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr14:22929923G>A ENST00000514473.2 - 0 225 CGGGGAGAATGATGATGGTAG 0.423000 19 46 0 0 1 0 0 PLXNB1 5364 broad.mit.edu 37 3 48462263 48462263 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:48462263G>A ENST00000358536.4 - 9 2182 c.1913C>T c.(1912-1914)tCt>tTt p.S638F PLXNB1_ENST00000358459.4_Missense_Mutation_p.S638F|PLXNB1_ENST00000456774.1_Missense_Mutation_p.S638F|PLXNB1_ENST00000296440.6_Missense_Mutation_p.S638F|PLXNB1_ENST00000448774.2_Intron NM_002673.4 NP_002664.2 O43157 PLXB1_HUMAN plexin B1 638 axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) TCACTGCGCAGATGGGCGGAG 0.602000 18 34 0 0 1 0 0 GPNMB 10457 broad.mit.edu 37 7 23293001 23293001 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr7:23293001C>T ENST00000258733.4 + 2 441 c.146C>T c.(145-147)tCt>tTt p.S49F GPNMB_ENST00000381990.2_Missense_Mutation_p.S49F|GPNMB_ENST00000453162.2_Missense_Mutation_p.S49F|GPNMB_ENST00000409458.3_Missense_Mutation_p.S49F|GPNMB_ENST00000539136.1_Intron Q14956 GPNMB_HUMAN glycoprotein (transmembrane) nmb 49 negative regulation of cell proliferation melanosome breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2) 41 GBM - Glioblastoma multiforme(13;0.154) GGCTGGTCTTCTGATGAAAAT 0.413000 13 72 0 0 1 0 0 OR10AG1 282770 broad.mit.edu 37 11 55735136 55735136 + Missense_Mutation SNP G G C rs144396433 TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:55735136G>C ENST00000312345.2 - 1 854 c.804C>G c.(802-804)ttC>ttG p.F268L NM_001005491.1 NP_001005491.1 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, member 1 268 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 40 Esophageal squamous(21;0.0137) GAATGGTGTAGAAAAGAGAAA 0.343000 12 24 0 0 1 0 0 LCMT2 9836 broad.mit.edu 37 15 43621411 43621411 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr15:43621411G>A ENST00000305641.5 - 1 1392 c.1277C>T c.(1276-1278)tCa>tTa p.S426L LCMT2_ENST00000567039.1_3'UTR|LCMT2_ENST00000544735.1_Missense_Mutation_p.S5L NM_014793.4 NP_055608.2 O60294 LCMT2_HUMAN leucine carboxyl methyltransferase 2 426 tRNA processing methyltransferase activity|protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1) 20 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.1e-07) L-Leucine(DB00149) CCGACTCTCTGAGAGTCTTGT 0.488000 52 40 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32626655 32626655 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:32626655C>G ENST00000421745.2 + 8 1516 c.1382C>G c.(1381-1383)tCt>tGt p.S461C NM_016252.3 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 461 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) GAGGACTCCTCTAGTTGCTCA 0.388000 43 60 0 0 1 0 0 PDE1B 5153 broad.mit.edu 37 12 54963353 54963353 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr12:54963353C>T ENST00000243052.3 + 5 870 c.434C>T c.(433-435)tCt>tTt p.S145F PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Missense_Mutation_p.S125F|PDE1B_ENST00000538346.1_Missense_Mutation_p.S104F NM_000924.3 NP_000915.1 Q01064 PDE1B_HUMAN phosphodiesterase 1B, calmodulin-dependent 145 activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation cytosol|nucleus 3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4) 31 ACATACACCTCTGTGGGCCCC 0.517000 12 24 0 0 1 0 0 BARD1 580 broad.mit.edu 37 2 215632218 215632218 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:215632218G>C ENST00000260947.4 - 6 1690 c.1556C>G c.(1555-1557)tCc>tGc p.S519C BARD1_ENST00000449967.2_Missense_Mutation_p.S375C NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1 NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1 Q99728 BARD1_HUMAN BRCA1 associated RING domain 1 519 cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1) 35 Renal(323;0.0243) Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) AGCATTTCTGGAGGCTCCATA 0.383000 Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 20 15 0 0 1 0 0 EZH1 2145 broad.mit.edu 37 17 40876419 40876419 + Silent SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:40876419C>G ENST00000428826.2 - 5 391 c.270G>C c.(268-270)ccG>ccC p.P90P EZH1_ENST00000435174.1_Intron|EZH1_ENST00000592743.1_Silent_p.P90P|EZH1_ENST00000590078.1_Silent_p.P20P|EZH1_ENST00000415827.2_Silent_p.P81P|EZH1_ENST00000585893.1_Intron Q92800 EZH1_HUMAN enhancer of zeste homolog 1 (Drosophila) 90 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex chromatin binding|DNA binding breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 27 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0784) TTGCAAATCCCGGGAAAATGC 0.408000 15 37 0 0 1 0 0 BMP5 653 broad.mit.edu 37 6 55739619 55739619 + Silent SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:55739619G>C ENST00000370830.3 - 1 743 c.45C>G c.(43-45)ctC>ctG p.L15L BMP5_ENST00000446683.2_Silent_p.L15L NM_021073.2 NP_066551.1 P22003 BMP5_HUMAN bone morphogenetic protein 5 15 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 45 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) AGCAGCTCCAGAGGAAACCCA 0.378000 46 166 0 0 1 0 0 KLK5 25818 broad.mit.edu 37 19 51452365 51452365 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:51452365G>A ENST00000336334.3 - 4 694 c.342C>T c.(340-342)ttC>ttT p.F114F KLK5_ENST00000391809.2_Silent_p.F114F|KLK5_ENST00000593428.1_Silent_p.F114F NM_012427.4 NP_036559 Q9Y337 KLK5_HUMAN kallikrein-related peptidase 5 114 Peptidase S1. epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis extracellular space protein binding|serine-type endopeptidase activity NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1) 15 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888) GACGGACTCTGAAAACTCTGA 0.597000 86 84 0 0 1 0 0 PGLYRP3 114771 broad.mit.edu 37 1 153277445 153277445 + Silent SNP G G T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:153277445G>T ENST00000290722.1 - 3 406 c.354C>A c.(352-354)atC>atA p.I118I NM_052891.1 NP_443123.1 Q96LB9 PGRP3_HUMAN peptidoglycan recognition protein 3 118 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 28 all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CAAAGAAGGCGATGCCCAGGG 0.537000 25 18 5.35356e-11 5.49596e-11 1 1 0 FAM63A 55793 broad.mit.edu 37 1 150974810 150974810 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:150974810G>A ENST00000361936.5 - 3 1238 c.284C>T c.(283-285)tCc>tTc p.S95F FAM63A_ENST00000312210.5_Intron|FAM63A_ENST00000470877.1_Intron|FAM63A_ENST00000493834.2_5'UTR|FAM63A_ENST00000361738.6_Missense_Mutation_p.S143F NM_018379.4 NP_060849 Q8N5J2 FA63A_HUMAN family with sequence similarity 63, member A 95 protein binding breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CTGGGGCATGGAGCATGCCCT 0.577000 28 37 0 0 1 0 0 SLC16A5 9121 broad.mit.edu 37 17 73096826 73096826 + Silent SNP C C T rs138345813 TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:73096826C>T ENST00000450736.2 + 4 1483 c.1068C>T c.(1066-1068)atC>atT p.I356I SLC16A5_ENST00000538213.2_Silent_p.I396I|SLC16A5_ENST00000329783.4_Silent_p.I356I|SLC16A5_ENST00000580123.1_Silent_p.I356I O15375 MOT6_HUMAN solute carrier family 16 (monocarboxylate transporter), member 5 356 organic anion transport integral to plasma membrane|membrane fraction secondary active monocarboxylate transmembrane transporter activity|symporter activity central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 all_lung(278;0.226) LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235) Pyruvic acid(DB00119) TCATGGACATCGTCCCCATGG 0.617000 26 42 0 0 1 0 0 DNAH6 1768 broad.mit.edu 37 2 84806795 84806795 + Nonsense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:84806795C>T ENST00000389394.3 + 14 2358 c.2221C>T c.(2221-2223)Cag>Tag p.Q741* DNAH6_ENST00000398278.2_Nonsense_Mutation_p.Q741*|DNAH6_ENST00000237449.6_Nonsense_Mutation_p.Q741* NM_001370.1 NP_001361.1 Q9C0G6 DYH6_HUMAN dynein, axonemal, heavy chain 6 741 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 57 TGATGAAATTCAGGAACGGGT 0.358000 7 29 0 0 1 0 0 JMJD1C 221037 broad.mit.edu 37 10 64974630 64974630 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr10:64974630G>A ENST00000399262.2 - 8 1515 c.1297C>T c.(1297-1299)Ccc>Tcc p.P433S JMJD1C_ENST00000399251.1_Missense_Mutation_p.P214S|JMJD1C_ENST00000402544.1_Missense_Mutation_p.P214S|JMJD1C_ENST00000542921.1_Missense_Mutation_p.P251S NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 433 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) TGATCCCAGGGAGGCTGGCTA 0.363000 19 83 0 0 1 0 0 DIS3 22894 broad.mit.edu 37 13 73334757 73334757 + Missense_Mutation SNP G G T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr13:73334757G>T ENST00000377767.4 - 20 2803 c.2703C>A c.(2701-2703)ttC>ttA p.F901L DIS3_ENST00000545453.1_Missense_Mutation_p.F739L|DIS3_ENST00000377780.4_Missense_Mutation_p.F871L NM_014953.3 NP_055768.3 Q9Y2L1 RRP44_HUMAN DIS3 mitotic control homolog (S. cerevisiae) 901 CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1) 35 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) CAAATACATGGAACACTGTAT 0.338000 Multiple Myeloma(4;0.011) 30 14 2.65835e-16 2.7548e-16 1 1 0 ZZEF1 23140 broad.mit.edu 37 17 4013096 4013096 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:4013096G>A ENST00000381638.2 - 6 1252 c.1128C>T c.(1126-1128)ctC>ctT p.L376L ZZEF1_ENST00000574474.1_5'UTR NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 376 DOC. calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 CAACAGCCCTGAGACCATGAA 0.443000 42 21 0 0 1 0 0 RALGPS2 55103 broad.mit.edu 37 1 178871301 178871301 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:178871301G>A ENST00000367635.3 + 18 1923 c.1585G>A c.(1585-1587)Gac>Aac p.D529N RALGPS2_ENST00000367634.2_Missense_Mutation_p.D503N NM_152663.3 NP_689876.2 Q86X27 RGPS2_HUMAN Ral GEF with PH domain and SH3 binding motif 2 529 PH.|Required for stimulation of nucleotide exchange by RALA (By similarity). small GTPase mediated signal transduction cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity|protein binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 GATGGCTGATGACCCTGAACA 0.388000 24 42 0 0 1 0 0 MARK1 4139 broad.mit.edu 37 1 220752768 220752768 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:220752768C>T ENST00000366918.4 + 2 721 c.124C>T c.(124-126)Cgg>Tgg p.R42W MARK1_ENST00000366917.4_Missense_Mutation_p.R42W|MARK1_ENST00000402574.1_5'UTR|MARK1_ENST00000485104.1_3'UTR Q9P0L2 MARK1_HUMAN MAP/microtubule affinity-regulating kinase 1 42 intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1) 63 GBM - Glioblastoma multiforme(131;0.0407) GAACATCCCCCGGTGTAGAAA 0.408000 16 36 0 0 1 0 0 HSD17B2 3294 broad.mit.edu 37 16 82124573 82124573 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:82124573C>T ENST00000199936.4 + 4 924 c.731C>T c.(730-732)tCa>tTa p.S244L RP11-510J16.5_ENST00000567021.1_RNA NM_002153.2 NP_002144.1 P37059 DHB2_HUMAN hydroxysteroid (17-beta) dehydrogenase 2 244 response to retinoic acid|steroid biosynthetic process endoplasmic reticulum membrane|integral to membrane 17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 10 NADH(DB00157) ATGTTCTCATCAGTTATGAGA 0.473000 19 29 0 0 1 0 0 USP29 57663 broad.mit.edu 37 19 57640386 57640386 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:57640386G>A ENST00000254181.4 + 4 797 c.343G>A c.(343-345)Gat>Aat p.D115N USP29_ENST00000598197.1_Missense_Mutation_p.D115N NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 115 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GAAATCTGATGATGATTGGAG 0.353000 27 40 0 0 1 0 0 MRPL41 64975 broad.mit.edu 37 9 140446845 140446845 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:140446845C>T ENST00000371443.5 + 2 1100 c.312C>T c.(310-312)ttC>ttT p.F104F NM_032477.2 NP_115866.1 Q8IXM3 RM41_HUMAN mitochondrial ribosomal protein L41 104 apoptosis|cell cycle|translation mitochondrial large ribosomal subunit structural constituent of ribosome breast(1)|lung(1) 2 all_cancers(76;0.106) OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106) AAAAGGACTTCAAGGACGGTA 0.617000 11 31 0 0 1 0 0 ARHGEF1 9138 broad.mit.edu 37 19 42410943 42410943 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:42410943C>T ENST00000378152.4 + 26 2624 c.2526C>T c.(2524-2526)ttC>ttT p.F842F ARHGEF1_ENST00000347545.4_3'UTR|ARHGEF1_ENST00000599846.1_3'UTR|ARHGEF1_ENST00000354532.3_3'UTR|ARHGEF1_ENST00000337665.4_3'UTR Q92888 ARHG1_HUMAN Rho guanine nucleotide exchange factor (GEF) 1 0 cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol|plasma membrane GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425) Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644) ACTTGAGGTTCCCGCCCAGGA 0.652000 12 27 0 0 1 0 0 LRIG1 26018 broad.mit.edu 37 3 66444594 66444594 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:66444594G>A ENST00000383703.3 - 13 2013 c.1410C>T c.(1408-1410)tgC>tgT p.C470C LRIG1_ENST00000273261.3_Silent_p.C446C|LRIG1_ENST00000496559.2_5'UTR Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like domains 1 446 LRRCT. integral to membrane NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) ACTTCAGCTGGCAGTCACACA 0.557000 10 19 0 0 1 0 0 GNAT2 2780 broad.mit.edu 37 1 110146628 110146628 + Silent SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:110146628G>C ENST00000351050.3 - 7 1005 c.819C>G c.(817-819)ctC>ctG p.L273L NM_005272.3 NP_005263.1 P19087 GNAT2_HUMAN guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 273 detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane G-protein beta/gamma-subunit complex binding|G-protein coupled photoreceptor activity|G-protein-coupled receptor binding|GTP binding|GTPase activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 14 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227) TTTCCTCAAAGAGGTCCTTCT 0.388000 29 25 0 0 1 0 0 TLK2 11011 broad.mit.edu 37 17 60613531 60613531 + Splice_Site SNP C C A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:60613531C>A ENST00000326270.9 + 7 632 c.364C>A c.(364-366)Cga>Aga p.R122R TLK2_ENST00000542523.1_Splice_Site_p.R90R|TLK2_ENST00000343388.7_Splice_Site_p.R90R|TLK2_ENST00000582809.1_5'UTR|TLK2_ENST00000346027.5_Splice_Site_p.R122R NM_001284333.1 NP_001271262.1 Q86UE8 TLK2_HUMAN tousled-like kinase 2 122 cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1) 39 TGTTTTCCAGCGACGAGTAGA 0.443000 16 34 4.7546e-09 4.85663e-09 1 1 0 HOXB7 3217 broad.mit.edu 37 17 46688210 46688210 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:46688210C>T ENST00000239165.7 - 1 169 c.71G>A c.(70-72)gGa>gAa p.G24E HOXB7_ENST00000567101.2_Intron NM_004502.3 NP_004493.3 P09629 HXB7_HUMAN homeobox B7 24 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 8 TGGGAAGGCTCCGGTAGCGAA 0.522000 33 65 0 0 1 0 0 WDR6 11180 broad.mit.edu 37 3 49049837 49049837 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:49049837C>T ENST00000395474.3 + 2 1240 c.960C>T c.(958-960)ctC>ctT p.L320L WDR6_ENST00000415265.2_Intron|WDR6_ENST00000489684.1_3'UTR|WDR6_ENST00000448293.1_Silent_p.L239L|WDR6_ENST00000608424.1_Silent_p.L290L NM_018031.3 NP_060501.3 Q9NNW5 WDR6_HUMAN WD repeat domain 6 290 cell cycle arrest|negative regulation of cell proliferation cytoplasm breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155) GTGAGATCCTCCAGGCCTTTC 0.587000 38 75 0 0 1 0 0 GGCX 2677 broad.mit.edu 37 2 85778620 85778620 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:85778620C>G ENST00000233838.4 - 12 1803 c.1723G>C c.(1723-1725)Gag>Cag p.E575Q GGCX_ENST00000430215.3_Missense_Mutation_p.E518Q NM_000821.5 NP_000812.2 P38435 VKGC_HUMAN gamma-glutamyl carboxylase blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification endoplasmic reticulum membrane|integral to membrane|membrane fraction gamma-glutamyl carboxylase activity endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2) 15 Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022) TTTTCTCCCTCTCGAAGAGTC 0.493000 25 119 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79430064 79430064 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr4:79430064C>T ENST00000264895.6 + 63 10124 c.9684C>T c.(9682-9684)ttC>ttT p.F3228F NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 3223 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 CTGTGCAGTTCAGCTGGGAAG 0.572000 18 28 0 0 1 0 0 THAP6 152815 broad.mit.edu 37 4 76440731 76440731 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr4:76440731G>A ENST00000311638.3 + 2 137 c.69G>A c.(67-69)ctG>ctA p.L23L THAP6_ENST00000504190.1_Intron|THAP6_ENST00000507556.1_Silent_p.L23L|THAP6_ENST00000502620.1_Intron|THAP6_ENST00000380837.3_Silent_p.L23L|THAP6_ENST00000507885.1_Intron|THAP6_ENST00000508105.1_Intron|THAP6_ENST00000507557.1_Intron|THAP6_ENST00000514480.1_Silent_p.L23L NM_144721.4 NP_653322.1 Q8TBB0 THAP6_HUMAN THAP domain containing 6 23 microtubule cytoskeleton DNA binding|metal ion binding lung(5) 5 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) TAAAAGGACTGACATTTCACG 0.358000 30 49 0 0 1 0 0 ZNF106 64397 broad.mit.edu 37 15 42717184 42717184 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr15:42717184G>A ENST00000263805.4 - 13 5295 c.4969C>T c.(4969-4971)Cgg>Tgg p.R1657W ZNF106_ENST00000565380.1_Missense_Mutation_p.R885W|ZNF106_ENST00000565611.1_Missense_Mutation_p.R842W NM_001284306.1|NM_001284307.1|NM_022473.1 NP_001271235.1|NP_001271236.1|NP_071918.1 zinc finger protein 106 CTGACTGCCCGAGGGCCATGG 0.478000 26 16 0 0 1 0 0 SCUBE2 57758 broad.mit.edu 37 11 9069001 9069001 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:9069001G>A ENST00000457346.2 - 16 1978 c.1904C>T c.(1903-1905)tCa>tTa p.S635L SCUBE2_ENST00000309263.3_Missense_Mutation_p.S606L|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000450649.2_Missense_Mutation_p.S480L|SCUBE2_ENST00000520467.1_Missense_Mutation_p.S635L Q9NQ36 SCUB2_HUMAN signal peptide, CUB domain, EGF-like 2 606 extracellular region calcium ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116) GTTCATGCCTGAGAGCTGGAG 0.572000 21 33 0 0 1 0 0 AMMECR1 9949 broad.mit.edu 37 X 109561233 109561233 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chrX:109561233C>T ENST00000262844.5 - 1 234 c.67G>A c.(67-69)Ggc>Agc p.G23S AMMECR1_ENST00000372059.2_Missense_Mutation_p.G23S|AMMECR1_ENST00000372057.1_Intron NM_015365.2 NP_056180.1 Q9Y4X0 AMER1_HUMAN Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 23 Gly/Ser-rich. large_intestine(1)|lung(4)|ovary(1)|stomach(1) 7 CCACCACCGCCACCCGAGCCA 0.682000 8 4 0 0 1 0 0 IRF7 3665 broad.mit.edu 37 11 615238 615238 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:615238G>A ENST00000397566.1 - 1 490 c.81C>T c.(79-81)ttC>ttT p.F27F IRF7_ENST00000330243.5_Silent_p.F27F|IRF7_ENST00000525445.1_5'UTR|IRF7_ENST00000397562.3_5'UTR|IRF7_ENST00000348655.6_Silent_p.F14F|IRF7_ENST00000397570.1_Silent_p.F14F|IRF7_ENST00000397574.2_Silent_p.F14F NM_004031.2 NP_004022.2 Q92985 IRF7_HUMAN interferon regulatory factor 7 14 interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|endosome membrane|nucleoplasm|plasma membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) GCCACTCTCCGAACAGCACGC 0.711000 3 15 0 0 1 0 0 ATF7IP2 80063 broad.mit.edu 37 16 10525231 10525231 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:10525231G>C ENST00000396560.2 + 3 981 c.754G>C c.(754-756)Gat>Cat p.D252H ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.D252H|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.D252H|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.D252H NM_024997.3 NP_079273.2 Q5U623 MCAF2_HUMAN activating transcription factor 7 interacting protein 2 252 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus large_intestine(3) 3 TTTGAAAACTGATGAGTGTAG 0.358000 14 51 0 0 1 0 0 HMGCR 3156 broad.mit.edu 37 5 74645875 74645875 + Nonsense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr5:74645875C>T ENST00000287936.4 + 7 721 c.565C>T c.(565-567)Cag>Tag p.Q189* HMGCR_ENST00000511206.1_Nonsense_Mutation_p.Q189*|HMGCR_ENST00000343975.5_Nonsense_Mutation_p.Q189* NM_000859.2 NP_000850.1 P04035 HMDH_HUMAN 3-hydroxy-3-methylglutaryl-CoA reductase 189 cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 20 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174) OV - Ovarian serous cystadenocarcinoma(47;2.24e-54) Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641) AGGGGTACGTCAGCTTGAAAT 0.393000 23 45 0 0 1 0 0 TSEN34 79042 broad.mit.edu 37 19 54695644 54695644 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:54695644G>A ENST00000396383.1 + 3 627 c.316G>A c.(316-318)Gag>Aag p.E106K TSEN34_ENST00000396388.2_Missense_Mutation_p.E106K|TSEN34_ENST00000302937.4_Missense_Mutation_p.E106K|TSEN34_ENST00000429671.2_Missense_Mutation_p.E106K Q9BSV6 SEN34_HUMAN TSEN34 tRNA splicing endonuclease subunit 106 mRNA processing|tRNA-type intron splice site recognition and cleavage nucleolus|tRNA-intron endonuclease complex nucleic acid binding|tRNA-intron endonuclease activity endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 10 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) TGAGGCCCGGGAGACCCGTCG 0.612000 5 123 0 0 1 0 0 HLA-DMA 3108 broad.mit.edu 37 6 32917584 32917584 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:32917584G>A ENST00000374843.4 - 3 541 c.456C>T c.(454-456)ctC>ctT p.L152L HLA-DMA_ENST00000395305.3_Silent_p.L57L|HLA-DMA_ENST00000464392.1_5'UTR|XXbac-BPG181M17.5_ENST00000429234.1_Intron|HLA-DMA_ENST00000395303.3_Intron NM_006120.3 NP_006111.2 Q31604 Q31604_HUMAN major histocompatibility complex, class II, DM alpha 152 integral to membrane|MHC class II protein complex kidney(1)|large_intestine(2)|lung(8) 11 TGGGTGGGAAGAGATTACTGA 0.527000 15 47 0 0 1 0 0 BICD2 23299 broad.mit.edu 37 9 95480168 95480168 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:95480168G>A ENST00000356884.6 - 6 2236 c.2169C>T c.(2167-2169)acC>acT p.T723T BICD2_ENST00000375512.3_Silent_p.T723T NM_001003800.1 NP_001003800.1 Q8TD16 BICD2_HUMAN bicaudal D homolog 2 (Drosophila) 723 Interacts with RAB6A (By similarity). microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane Rab GTPase binding cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 TCATGGTCTCGGTAACCATGG 0.567000 37 94 0 0 1 0 0 GGCX 2677 broad.mit.edu 37 2 85778707 85778707 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:85778707C>T ENST00000233838.4 - 12 1716 c.1636G>A c.(1636-1638)Gaa>Aaa p.E546K GGCX_ENST00000430215.3_Missense_Mutation_p.E489K NM_000821.5 NP_000812.2 P38435 VKGC_HUMAN gamma-glutamyl carboxylase blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification endoplasmic reticulum membrane|integral to membrane|membrane fraction gamma-glutamyl carboxylase activity endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2) 15 Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022) CCCAGGTCTTCACTCACAAAA 0.517000 OREG0014747 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 116 0 0 1 0 0 OSBP2 23762 broad.mit.edu 37 22 31289499 31289499 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr22:31289499G>A ENST00000332585.6 + 10 2144 c.2040G>A c.(2038-2040)agG>agA p.R680R OSBP2_ENST00000407373.1_Silent_p.R507R|OSBP2_ENST00000403222.3_Silent_p.R514R|OSBP2_ENST00000437268.2_Silent_p.R422R|OSBP2_ENST00000496575.1_3'UTR|OSBP2_ENST00000401475.1_Silent_p.R313R|OSBP2_ENST00000446658.2_Silent_p.R679R|OSBP2_ENST00000382310.3_Silent_p.R631R|OSBP2_ENST00000535268.1_Silent_p.R224R NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3 NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1 Q969R2 OSBP2_HUMAN oxysterol binding protein 2 680 lipid transport membrane lipid binding breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1) 19 ACGTGTGGAGGAAGAGCACCT 0.632000 27 55 0 0 1 0 0 DNAJA4 55466 broad.mit.edu 37 15 78566603 78566603 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr15:78566603C>T ENST00000394855.3 + 5 798 c.570C>T c.(568-570)atC>atT p.I190I DNAJA4_ENST00000343789.3_Silent_p.I161I|DNAJA4_ENST00000394852.3_Silent_p.I161I|DNAJA4_ENST00000446172.2_Silent_p.I134I NM_018602.3 NP_061072.3 Q8WW22 DNJA4_HUMAN DnaJ (Hsp40) homolog, subfamily A, member 4 161 protein folding|response to heat membrane ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1) 8 GGATGCAGATCCACATCCAGC 0.642000 19 37 0 0 1 0 0 TRGC1 6966 broad.mit.edu 37 7 38305039 38305039 + RNA SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr7:38305039G>A ENST00000443402.2 - 0 240 NM_001003799.1|NM_001003806.1 NP_001003799.1|NP_001003806.1 TTTGTCCAGTGACTTTTCTGG 0.398000 52 105 0 0 1 0 0 VENTX 27287 broad.mit.edu 37 10 135053664 135053664 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr10:135053664G>C ENST00000325980.9 + 3 1142 c.631G>C c.(631-633)Gag>Cag p.E211Q NM_014468.3 NP_055283.1 O95231 VENTX_HUMAN VENT homeobox 211 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1) 14 all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05) AGTGGCACAAGAGGCCCTGGC 0.706000 11 8 0 0 1 0 0 TRIM40 135644 broad.mit.edu 37 6 30114921 30114921 + Missense_Mutation SNP C C A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:30114921C>A ENST00000396581.1 + 4 987 c.601C>A c.(601-603)Cag>Aag p.Q201K TRIM40_ENST00000376724.2_Missense_Mutation_p.Q201K|TRIM40_ENST00000307859.4_Missense_Mutation_p.Q172K Q6P9F5 TRI40_HUMAN tripartite motif containing 40 201 intracellular zinc ion binding ovary(1) 1 GGCAGTAACACAGCTCAGAAG 0.582000 37 73 2.05212e-20 2.13588e-20 1 1 0 ELMO3 79767 broad.mit.edu 37 16 67233098 67233098 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:67233098G>A ENST00000393997.2 + 1 85 c.28G>A c.(28-30)Gag>Aag p.E10K ELMO3_ENST00000360833.1_Missense_Mutation_p.E10K NM_024712.3 NP_078988.2 Q96BJ8 ELMO3_HUMAN engulfment and cell motility 3 0 apoptosis|phagocytosis cytoplasm|cytoskeleton SH3 domain binding cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 18 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417) TCTGGGCCGCGAGTGCGGGAC 0.687000 5 20 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49438623 49438623 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr12:49438623C>T ENST00000301067.7 - 19 4866 c.4867G>A c.(4867-4869)Gag>Aag p.E1623K NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D AATCCTGCCTCGCCTGGGAGG 0.602000 29 67 0 0 1 0 0 SEPSECS 51091 broad.mit.edu 37 4 25146637 25146637 + Missense_Mutation SNP T T C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr4:25146637T>C ENST00000382103.2 - 7 995 c.923A>G c.(922-924)aAg>aGg p.K308R SEPSECS_ENST00000302922.3_Missense_Mutation_p.K229R NM_016955.3 NP_058651.3 Q9HD40 SPCS_HUMAN Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase 308 selenocysteine incorporation cytoplasm|nucleus pyridoxal phosphate binding|transferase activity, transferring selenium-containing groups|tRNA binding endometrium(1)|large_intestine(4)|lung(2)|stomach(1) 8 Breast(46;0.173) Pyridoxal Phosphate(DB00114) TGGATACATCTTGCTGATTTC 0.318000 8 43 0 0 1 0 0 ZNF813 126017 broad.mit.edu 37 19 53989916 53989916 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:53989916G>A ENST00000396403.4 + 3 174 c.46G>A c.(46-48)Gaa>Aaa p.E16K ZNF813_ENST00000396421.4_Missense_Mutation_p.E16K NM_001004301.3 NP_001004301.2 Q6ZN06 ZN813_HUMAN zinc finger protein 813 16 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) TGTGGCCATAGAATTCTCTCA 0.448000 49 183 0 0 1 0 0 TRAV34 28648 broad.mit.edu 37 14 22675791 22675791 + RNA SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr14:22675791G>C ENST00000390461.2 + 0 115 GATCGTCCAAGAGGGAAAGAA 0.398000 8 12 0 0 1 0 0 USP36 57602 broad.mit.edu 37 17 76810611 76810611 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:76810611G>A ENST00000542802.3 - 11 1490 c.1047C>T c.(1045-1047)ctC>ctT p.L349L USP36_ENST00000312010.6_Silent_p.L349L|USP36_ENST00000449938.2_Silent_p.L49L|USP36_ENST00000588467.1_5'UTR Q9P275 UBP36_HUMAN ubiquitin specific peptidase 36 ubiquitin-dependent protein catabolic process nucleolus cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 34 BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151) GACGTATGTTGAGGAATTCCG 0.443000 15 37 0 0 1 0 0 LMF2 91289 broad.mit.edu 37 22 50943035 50943035 + Missense_Mutation SNP G G C rs147119038 byFrequency TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr22:50943035G>C ENST00000216080.5 - 11 1652 c.1484C>G c.(1483-1485)cCg>cGg p.P495R LMF2_ENST00000474879.2_Missense_Mutation_p.P520R|LMF2_ENST00000380796.3_Missense_Mutation_p.P407R Q9BU23 LMF2_HUMAN lipase maturation factor 2 520 endoplasmic reticulum membrane|integral to membrane breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2) 10 all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TGTGAACCACGGGCTGTGCGT 0.711000 9 23 0 0 1 0 0 H1FX 8971 broad.mit.edu 37 3 129034285 129034285 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:129034285G>A ENST00000333762.4 - 1 835 c.461C>T c.(460-462)tCc>tTc p.S154F H1FX-AS1_ENST00000511998.1_RNA NM_006026.3 NP_006017.1 Q92522 H1X_HUMAN H1 histone family, member X 154 nucleosome assembly nucleosome|nucleus DNA binding kidney(1)|ovary(1)|urinary_tract(2) 4 cgcgcgccgggagccggccgc 0.771000 7 16 0 0 1 0 0 RARG 5916 broad.mit.edu 37 12 53608274 53608274 + Nonsense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr12:53608274G>A ENST00000425354.2 - 6 1079 c.592C>T c.(592-594)Cag>Tag p.Q198* RARG_ENST00000338561.5_Nonsense_Mutation_p.Q187*|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000543726.1_Nonsense_Mutation_p.Q176*|RARG_ENST00000327550.3_Nonsense_Mutation_p.Q126*|RARG_ENST00000394426.1_Nonsense_Mutation_p.Q198* NM_000966.5 NP_000957.1 P13631 RARG_HUMAN retinoic acid receptor, gamma 198 Hinge. canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid integral to membrane|transcription factor complex retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) AAAGTCTCCTGATGGGCTTTG 0.547000 27 54 0 0 1 0 0 CXXC1 30827 broad.mit.edu 37 18 47809094 47809094 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr18:47809094C>T ENST00000285106.6 - 15 2554 c.1840G>A c.(1840-1842)Gag>Aag p.E614K CXXC1_ENST00000412036.2_Missense_Mutation_p.E618K|CXXC1_ENST00000589940.1_Silent_p.T601T NM_001101654.1|NM_014593.3 NP_001095124.1|NP_055408.2 Q9P0U4 CXXC1_HUMAN CXXC finger protein 1 614 histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|Set1C/COMPASS complex protein binding|unmethylated CpG binding|zinc ion binding autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 24 TCAAACAGCTCGTCCAGCTTG 0.627000 27 53 0 0 1 0 0 ADSL 158 broad.mit.edu 37 22 40756423 40756423 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr22:40756423G>A ENST00000216194.7 + 7 775 c.719G>A c.(718-720)gGg>gAg p.G240E ADSL_ENST00000342312.6_Missense_Mutation_p.G240E|ADSL_ENST00000480775.1_3'UTR|ADSL_ENST00000454266.2_Missense_Mutation_p.G254E NM_000026.2 NP_000017.1 P30566 PUR8_HUMAN adenylosuccinate lyase 240 AMP biosynthetic process|protein tetramerization|purine base metabolic process cytosol (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1) 19 ATCATCACAGGGCAGACATAT 0.463000 23 45 0 0 1 0 0 FOXL1 2300 broad.mit.edu 37 16 86612809 86612809 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:86612809G>A ENST00000320241.3 + 1 695 c.480G>A c.(478-480)gaG>gaA p.E160E NM_005250.2 NP_005241.1 Q12952 FOXL1_HUMAN forkhead box L1 160 brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1) 15 CCCGCGCCGAGACGCACCAGC 0.776000 4 9 0 0 1 0 0 OCRL 4952 broad.mit.edu 37 X 128696762 128696762 + Splice_Site SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chrX:128696762G>A ENST00000371113.4 + 12 1408 c.1243G>A c.(1243-1245)Gag>Aag p.E415K OCRL_ENST00000357121.5_Splice_Site_p.E415K NM_000276.3 NP_000267.2 Q01968 OCRL_HUMAN oculocerebrorenal syndrome of Lowe 415 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3) 48 CATGAAACATGAGTAAGTGGT 0.418000 52 27 0 0 1 0 0 KIAA1377 57562 broad.mit.edu 37 11 101852653 101852653 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:101852653G>A ENST00000263468.8 + 8 3262 c.2992G>A c.(2992-2994)Gag>Aag p.E998K KIAA1377_ENST00000537689.1_Missense_Mutation_p.E799K NM_020802.2 NP_065853.2 Q9P2H0 K1377_HUMAN KIAA1377 998 protein binding breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 53 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) AAGTTCAAGTGAGCCAAAACA 0.279000 7 13 0 0 1 0 0 NRXN3 9369 broad.mit.edu 37 14 80164057 80164057 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr14:80164057C>G ENST00000281127.7 + 4 1565 c.686C>G c.(685-687)tCt>tGt p.S229C NRXN3_ENST00000556003.1_Intron|NRXN3_ENST00000428277.2_Missense_Mutation_p.S259C|NRXN3_ENST00000554719.1_Missense_Mutation_p.S861C|RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000557594.1_Missense_Mutation_p.S229C|NRXN3_ENST00000335750.5_Missense_Mutation_p.S861C NM_138970.3 NP_620426.2 Q9HDB5 NRX3B_HUMAN neurexin 3 229 Laminin G-like. angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) GGCCAACTCTCTGGGCTCTAT 0.493000 25 39 0 0 1 0 0 RIN1 9610 broad.mit.edu 37 11 66102614 66102614 + Missense_Mutation SNP C C A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:66102614C>A ENST00000311320.4 - 6 782 c.656G>T c.(655-657)gGa>gTa p.G219V RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000424433.2_Missense_Mutation_p.G114V|RIN1_ENST00000530056.1_Missense_Mutation_p.G114V NM_004292.2 NP_004283.2 Q13671 RIN1_HUMAN Ras and Rab interactor 1 219 endocytosis|signal transduction cytoplasm|cytoskeleton|plasma membrane GTPase activator activity|protein binding breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1) 14 CAAGGCGGCTCCGGTGCCCTG 0.642000 47 59 8.72198e-27 9.09123e-27 1 1 0 GPR107 57720 broad.mit.edu 37 9 132854562 132854562 + Silent SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:132854562C>G ENST00000372406.1 + 9 1272 c.765C>G c.(763-765)ctC>ctG p.L255L GPR107_ENST00000347136.6_Silent_p.L255L|GPR107_ENST00000372410.3_Silent_p.L255L NM_001136557.1 NP_001130029.1 Q5VW38 GP107_HUMAN G protein-coupled receptor 107 255 integral to membrane endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 11 Ovarian(14;0.000531) ACAGCTACCTCTCAGCAGGAG 0.388000 9 36 0 0 1 0 0 ARF6 382 broad.mit.edu 37 14 50360532 50360532 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr14:50360532G>C ENST00000298316.5 + 2 625 c.78G>C c.(76-78)aaG>aaC p.K26N NM_001663.3 NP_001654.1 P62330 ARF6_HUMAN ADP-ribosylation factor 6 26 cell adhesion|cellular component movement|cortical actin cytoskeleton organization|negative regulation of receptor-mediated endocytosis|positive regulation of actin filament polymerization|positive regulation of establishment of protein localization in plasma membrane|protein localization at cell surface|protein transport|regulation of dendritic spine development|regulation of filopodium assembly|regulation of Rac protein signal transduction|ruffle organization|small GTPase mediated signal transduction|vesicle-mediated transport cell cortex|endosome membrane|filopodium membrane|Golgi apparatus|membrane fraction|ruffle GTP binding|GTPase activity|thioesterase binding endometrium(1)|kidney(1)|large_intestine(1)|ovary(1) 4 all_epithelial(31;0.000822)|Breast(41;0.0117) CGGCCGGCAAGACAACAATCC 0.557000 21 83 0 0 1 0 0 RPL23A 6147 broad.mit.edu 37 17 27047883 27047883 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:27047883C>T ENST00000422514.2 + 2 797 c.184C>T c.(184-186)Cgg>Tgg p.R62W RPL23A_ENST00000472628.1_5'UTR|RPL23A_ENST00000496182.1_5'UTR|RPL23A_ENST00000394938.4_Missense_Mutation_p.R100W NM_000984.5 NP_000975.2 P62750 RL23A_HUMAN ribosomal protein L23a 62 cell proliferation|endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleus nucleotide binding|protein binding|rRNA binding|structural constituent of ribosome endometrium(1)|lung(3)|ovary(1) 5 Lung NSC(42;0.00431) CAAATATCCTCGGAAGAGCGC 0.517000 OREG0024282 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 70 0 0 1 0 0 EPS8 2059 broad.mit.edu 37 12 15803792 15803792 + Nonsense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr12:15803792G>A ENST00000281172.5 - 14 1835 c.1399C>T c.(1399-1401)Cag>Tag p.Q467* EPS8_ENST00000543523.1_Nonsense_Mutation_p.Q467*|EPS8_ENST00000540613.1_Nonsense_Mutation_p.Q207*|EPS8_ENST00000542903.1_Nonsense_Mutation_p.Q207*|EPS8_ENST00000543612.1_Nonsense_Mutation_p.Q467* NM_004447.5 NP_004438.3 Q12929 EPS8_HUMAN epidermal growth factor receptor pathway substrate 8 467 cell proliferation|epidermal growth factor receptor signaling pathway SH3/SH2 adaptor activity NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244) BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264) TGTTTGCGCTGATGTTCTGCT 0.408000 33 65 0 0 1 0 0 AKAP10 11216 broad.mit.edu 37 17 19835150 19835150 + Missense_Mutation SNP G G A rs146622968 TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:19835150G>A ENST00000225737.6 - 10 1766 c.1609C>T c.(1609-1611)Cac>Tac p.H537Y AKAP10_ENST00000395536.3_Intron NM_007202.3 NP_009133.2 O43572 AKA10_HUMAN A kinase (PRKA) anchor protein 10 537 blood coagulation|protein localization cytosol|mitochondrion|plasma membrane signal transducer activity NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 21 all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165) CTCCCTGGGTGAGACTCATCA 0.502000 23 112 0 0 1 0 0 NEBL 10529 broad.mit.edu 37 10 21097558 21097558 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr10:21097558G>C ENST00000377122.4 - 26 3038 c.2642C>G c.(2641-2643)tCt>tGt p.S881C NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 881 Linker. regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 ATGGGATCGAGACCAGTGTCG 0.423000 29 92 0 0 1 0 0 LSM4 25804 broad.mit.edu 37 19 18420561 18420561 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:18420561G>A ENST00000593829.1 - 4 508 c.255C>T c.(253-255)gcC>gcT p.A85A LSM4_ENST00000252816.6_Silent_p.A71A NM_001252129.1|NM_012321.4 NP_001239058.1|NP_036453.1 Q9Y4Z0 LSM4_HUMAN LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae) 85 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|mRNA processing|RNA splicing cytosol|U6 snRNP protein binding|RNA binding endometrium(1)|large_intestine(2)|lung(3) 6 CGCGGCCCTTGGCCACCACCT 0.667000 16 42 0 0 1 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137465 40137465 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:40137465G>A ENST00000278198.2 - 2 2341 c.378C>T c.(376-378)ctC>ctT p.L126L LRRC4C_ENST00000530763.1_Silent_p.L126L|LRRC4C_ENST00000527150.1_Silent_p.L126L|LRRC4C_ENST00000528697.1_Silent_p.L126L Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 126 regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) CCAGAGTGTTGAGGTTCGCCA 0.443000 17 28 0 0 1 0 0 AKAP10 11216 broad.mit.edu 37 17 19861501 19861501 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:19861501G>A ENST00000225737.6 - 4 860 c.703C>T c.(703-705)Cac>Tac p.H235Y AKAP10_ENST00000395536.3_Missense_Mutation_p.H235Y NM_007202.3 NP_009133.2 O43572 AKA10_HUMAN A kinase (PRKA) anchor protein 10 235 RGS 1. blood coagulation|protein localization cytosol|mitochondrion|plasma membrane signal transducer activity NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 21 all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165) AGCAGCAAGTGATTCTGAGTG 0.438000 28 109 0 0 1 0 0 TCHHL1 126637 broad.mit.edu 37 1 152058492 152058492 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:152058492C>G ENST00000368806.1 - 3 1730 c.1666G>C c.(1666-1668)Gag>Cag p.E556Q NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 556 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) TTGCCTTCCTCTGAAGCCAGG 0.552000 35 115 0 0 1 0 0 GPR101 83550 broad.mit.edu 37 X 136113078 136113078 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chrX:136113078C>T ENST00000298110.1 - 1 755 c.756G>A c.(754-756)aaG>aaA p.K252K NM_054021.1 NP_473362.1 Q96P66 GP101_HUMAN G protein-coupled receptor 101 252 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1) 42 Acute lymphoblastic leukemia(192;0.000127) ACTCCTCCTTCTTCTCTGCTC 0.557000 91 40 0 0 1 0 0 CEP120 153241 broad.mit.edu 37 5 122729133 122729133 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr5:122729133G>A ENST00000306467.5 - 6 975 c.671C>T c.(670-672)tCt>tTt p.S224F CEP120_ENST00000306481.6_Missense_Mutation_p.S198F|CEP120_ENST00000328236.5_Missense_Mutation_p.S224F|CEP120_ENST00000395431.2_Missense_Mutation_p.S224F Q8N960 CE120_HUMAN centrosomal protein 120kDa 224 centrosome breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 29 TCCCAGTAAAGAGTAGTAAAA 0.353000 29 47 0 0 1 0 0 HERC1 8925 broad.mit.edu 37 15 63948526 63948526 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr15:63948526C>G ENST00000443617.2 - 49 9718 c.9631G>C c.(9631-9633)Gag>Cag p.E3211Q NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 3211 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 CCCAGAGACTCAAGACCAGCA 0.502000 10 48 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94109981 94109981 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr14:94109981C>T ENST00000553484.1 + 36 6319 c.6165C>T c.(6163-6165)ttC>ttT p.F2055F UNC79_ENST00000555664.1_Silent_p.F1994F|UNC79_ENST00000393151.2_Silent_p.F2033F|UNC79_ENST00000256339.4_Silent_p.F1856F Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 2033 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 TCTCCACATTCATTCACTTAA 0.502000 27 73 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971199 21971199 + Missense_Mutation SNP C C A rs104894095 TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:21971199C>A ENST00000579755.1 - 2 494 c.202G>T c.(202-204)Gat>Tat p.D68Y RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Missense_Mutation_p.D68Y|CDKN2A_ENST00000578845.2_Missense_Mutation_p.M2I|CDKN2A_ENST00000446177.1_Missense_Mutation_p.M53I|CDKN2A_ENST00000498628.2_Missense_Mutation_p.M2I|CDKN2A_ENST00000479692.2_Missense_Mutation_p.M2I|CDKN2A_ENST00000497750.1_Missense_Mutation_p.M2I|CDKN2A_ENST00000579122.1_Missense_Mutation_p.M53I|CDKN2A_ENST00000494262.1_Missense_Mutation_p.M2I|CDKN2A_ENST00000498124.1_Missense_Mutation_p.M53I|CDKN2A_ENST00000361570.3_Missense_Mutation_p.D109Y|CDKN2A_ENST00000304494.5_Missense_Mutation_p.M53I P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 44 A -> L (in CMM2; requires 2 nucleotide substitutions).|A -> T (in an esophagus tumor).|A -> V.|Missing (in melanoma; loss of CDK4 binding). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(45)|p.M53_R58del(3)|p.M53I(2)|p.0(1)|p.V28_V51del(1)|p.D109H(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CGCTGCCCATCATCATGACCT 0.677000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 12 21 9.31168e-06 9.43055e-06 1 1 0 C1QL1 10882 broad.mit.edu 37 17 43044835 43044835 + Silent SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:43044835G>C ENST00000253407.3 - 1 604 c.582C>G c.(580-582)ctC>ctG p.L194L NM_006688.3 NP_006679.1 O75973 C1QRF_HUMAN complement component 1, q subcomponent-like 1 194 C1q. locomotory behavior collagen lung(1)|prostate(1) 2 Prostate(33;0.155) CATTCTTGCAGAGGTCTGCCC 0.657000 8 18 0 0 1 0 0 H3F3B 3021 broad.mit.edu 37 17 73775020 73775020 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:73775020C>T ENST00000254810.4 - 3 285 c.153G>A c.(151-153)gaG>gaA p.E51E H3F3B_ENST00000591890.1_Silent_p.E51E|H3F3B_ENST00000589599.1_Silent_p.E51E|H3F3B_ENST00000593254.1_Intron|H3F3B_ENST00000587560.1_Silent_p.E51E|H3F3B_ENST00000592643.1_Silent_p.E51E|H3F3B_ENST00000586607.1_Silent_p.E51E NM_005324.3 NP_005315.1 P84243 H33_HUMAN H3 histone, family 3B (H3.3B) 51 blood coagulation|nucleosome assembly nucleoplasm|nucleosome DNA binding large_intestine(1)|lung(4)|ovary(2)|skin(1) 8 all_cancers(13;1.5e-07) all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154) AACGACGAATCTCTCGAAGCG 0.647000 OREG0024740 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 61 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23885290 23885290 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr14:23885290C>G ENST00000355349.3 - 34 5038 c.4876G>C c.(4876-4878)Gag>Cag p.E1626Q NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1626 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) AGCTGGATCTCCATCTCATTG 0.612000 6 113 0 0 1 0 0 CORO2A 7464 broad.mit.edu 37 9 100890904 100890904 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:100890904C>T ENST00000343933.5 - 9 1322 c.1065G>A c.(1063-1065)atG>atA p.M355I CORO2A_ENST00000375077.4_Missense_Mutation_p.M355I NM_003389.3 NP_003380.3 Q92828 COR2A_HUMAN coronin, actin binding protein, 2A 355 actin cytoskeleton organization|intracellular signal transduction actin cytoskeleton|transcriptional repressor complex actin filament binding endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1) 26 Acute lymphoblastic leukemia(62;0.0559) GGGGCACAATCATGGAGATGG 0.602000 30 41 0 0 1 0 0 GGCT 79017 broad.mit.edu 37 7 30536735 30536735 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr7:30536735G>A ENST00000275428.4 - 4 674 c.540C>T c.(538-540)atC>atT p.I180I GGCT_ENST00000409144.1_Silent_p.I86I|GGCT_ENST00000005374.6_3'UTR|GGCT_ENST00000409390.1_3'UTR|GGCT_ENST00000598361.1_Silent_p.I95I NM_024051.3 NP_076956.1 O75223 GGCT_HUMAN gamma-glutamylcyclotransferase 180 release of cytochrome c from mitochondria cytosol acyltransferase activity|gamma-glutamylcyclotransferase activity|protein homodimerization activity endometrium(2)|kidney(1)|large_intestine(2)|lung(3) 8 CCCCCTTTTTGATGATGTCTT 0.333000 9 54 0 0 1 0 0 SSBP2 23635 broad.mit.edu 37 5 80932422 80932422 + Missense_Mutation SNP T T A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr5:80932422T>A ENST00000320672.4 - 3 361 c.151A>T c.(151-153)Aac>Tac p.N51Y SSBP2_ENST00000514493.1_Missense_Mutation_p.N51Y|SSBP2_ENST00000515395.1_Missense_Mutation_p.N51Y|SSBP2_ENST00000509053.1_Missense_Mutation_p.N51Y|SSBP2_ENST00000505980.1_Missense_Mutation_p.N51Y NM_001256732.1|NM_001256733.1|NM_012446.3 NP_001243661.1|NP_001243662.1|NP_036578.2 P81877 SSBP2_HUMAN single-stranded DNA binding protein 2 51 regulation of transcription, DNA-dependent cytoplasm|nucleus single-stranded DNA binding SSBP2/JAK2(4) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 10 Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338) OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29) AATGTGATGTTTTTTTCCCAT 0.313000 19 47 0 0 1 0 0 ZNF800 168850 broad.mit.edu 37 7 127014673 127014673 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr7:127014673G>A ENST00000393313.1 - 5 1308 c.717C>T c.(715-717)ttC>ttT p.F239F ZNF800_ENST00000265827.3_Silent_p.F239F|ZNF800_ENST00000393312.1_Silent_p.F239F Q2TB10 ZN800_HUMAN zinc finger protein 800 239 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 32 GTCTAGAATTGAATTCTTTTC 0.383000 13 82 0 0 1 0 0 CCDC181 57821 broad.mit.edu 37 1 169366570 169366570 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:169366570C>T ENST00000545005.1 - 6 1779 c.1272G>A c.(1270-1272)gaG>gaA p.E424E CCDC181_ENST00000367805.3_Silent_p.E424E|CCDC181_ENST00000367806.3_Silent_p.E425E coiled-coil domain containing 181 CTTTCATCTGCTCTTCGTGCT 0.368000 6 24 0 0 1 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84651408 84651408 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr15:84651408G>A ENST00000286744.5 + 21 3252 c.3028G>A c.(3028-3030)Gag>Aag p.E1010K ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.E1010K NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 1010 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) AGCCCTCAGGGAGCCTATGAG 0.522000 23 66 0 0 1 0 0 GPR141 353345 broad.mit.edu 37 7 37780286 37780286 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr7:37780286C>G ENST00000447769.1 + 4 580 c.291C>G c.(289-291)atC>atG p.I97M EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.I97M|GPR141_ENST00000461610.1_Intron Q7Z602 GP141_HUMAN G protein-coupled receptor 141 97 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 TGCTGCACATCCACATGTACC 0.453000 11 67 0 0 1 0 0 MAZ 4150 broad.mit.edu 37 16 29819018 29819018 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:29819018G>A ENST00000219782.6 + 2 1018 c.912G>A c.(910-912)gaG>gaA p.E304E AC009133.15_ENST00000566537.1_RNA|MAZ_ENST00000545521.1_Silent_p.E281E|MAZ_ENST00000563402.1_Intron|MAZ_ENST00000322945.6_Silent_p.E304E|MAZ_ENST00000562337.1_Intron|MAZ_ENST00000566906.2_Intron NM_001042539.1 NP_001036004.1 P56270 MAZ_HUMAN MYC-associated zinc finger protein (purine-binding transcription factor) 304 regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter nucleus DNA binding|protein binding|RNA binding|zinc ion binding endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 10 ACTCGGACGAGAAGCCCTACC 0.627000 22 87 0 0 1 0 0 DNAI2 64446 broad.mit.edu 37 17 72308333 72308333 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:72308333G>A ENST00000579490.1 + 11 1992 c.1857G>A c.(1855-1857)aaG>aaA p.K619K DNAI2_ENST00000307504.5_Intron|DNAI2_ENST00000446837.2_Silent_p.K562K|DNAI2_ENST00000311014.6_Silent_p.K562K|DNAI2_ENST00000582036.1_Silent_p.K550K Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate chain 2 562 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 AGCTGAAGAAGAAGGAGGCAG 0.607000 Kartagener syndrome 13 20 0 0 1 0 0 ANKRD55 79722 broad.mit.edu 37 5 55396045 55396045 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr5:55396045C>T ENST00000341048.4 - 12 1961 c.1810G>A c.(1810-1812)Gaa>Aaa p.E604K ANKRD55_ENST00000434982.2_Missense_Mutation_p.E316K|ANKRD55_ENST00000504958.2_Missense_Mutation_p.E561K NM_024669.2 NP_078945.2 Q3KP44 ANR55_HUMAN ankyrin repeat domain 55 603 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1) 34 Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223) GCAGAATGTTCACTCTCTTCT 0.448000 38 86 0 0 1 0 0 LGALS3 3958 broad.mit.edu 37 14 55607035 55607035 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr14:55607035C>T ENST00000254301.9 + 4 646 c.385C>T c.(385-387)Cgc>Tgc p.R129C LGALS3_ENST00000553755.1_3'UTR|LGALS3_ENST00000554715.1_Missense_Mutation_p.R129C NM_002306.3 NP_002297.2 P17931 LEG3_HUMAN lectin, galactoside-binding, soluble, 3 129 Galectin. cell differentiation|innate immune response|mRNA processing|RNA splicing mitochondrial inner membrane|plasma membrane|spliceosomal complex IgE binding|sugar binding central_nervous_system(1)|endometrium(1)|prostate(1) 3 AGTGGTGCCTCGCATGCTGAT 0.413000 6 9 0 0 1 0 0 ZNF16 7564 broad.mit.edu 37 8 146156409 146156409 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr8:146156409G>A ENST00000276816.4 - 4 1950 c.1764C>T c.(1762-1764)ctC>ctT p.L588L ZNF16_ENST00000394909.2_Silent_p.L588L NM_001029976.2 NP_001025147.2 P17020 ZNF16_HUMAN zinc finger protein 16 588 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1) 29 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.136) Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486) GGTGGTGAATGAGATTTGAGC 0.473000 19 42 0 0 1 0 0 MBTPS2 51360 broad.mit.edu 37 X 21861409 21861409 + Missense_Mutation SNP G G A rs5951639 TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chrX:21861409G>A ENST00000365779.2 + 2 278 c.197G>A c.(196-198)cGg>cAg p.R66Q MBTPS2_ENST00000379484.5_Missense_Mutation_p.R66Q|MBTPS2_ENST00000465888.1_3'UTR O43462 MBTP2_HUMAN membrane-bound transcription factor peptidase, site 2 66 cholesterol metabolic process|proteolysis Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2) 24 AGTTGGGGACGGCGGAAAGCA 0.413000 41 20 0 0 1 0 0 ANKS6 203286 broad.mit.edu 37 9 101540693 101540693 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:101540693C>G ENST00000353234.4 - 7 1429 c.1382G>C c.(1381-1383)cGa>cCa p.R461P ANKS6_ENST00000375019.2_Missense_Mutation_p.R160P|ANKS6_ENST00000375018.1_Missense_Mutation_p.R461P|ANKS6_ENST00000540940.1_Missense_Mutation_p.R266P Q68DC2 ANKS6_HUMAN ankyrin repeat and sterile alpha motif domain containing 6 461 endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 21 Acute lymphoblastic leukemia(62;0.0527) ATTGGACATTCGGTTCCACCA 0.587000 17 26 0 0 1 0 0 TPTE2 93492 broad.mit.edu 37 13 20067030 20067030 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr13:20067030C>T ENST00000400230.2 - 3 123 c.79G>A c.(79-81)Gaa>Aaa p.E27K TPTE2_ENST00000382978.1_Missense_Mutation_p.E27K|TPTE2_ENST00000390680.2_Missense_Mutation_p.E27K|TPTE2_ENST00000255310.6_Missense_Mutation_p.E27K|TPTE2_ENST00000400103.2_Missense_Mutation_p.E27K|TPTE2_ENST00000382975.4_Missense_Mutation_p.E27K|TPTE2_ENST00000382977.4_Missense_Mutation_p.E27K|TPTE2_ENST00000457266.2_Missense_Mutation_p.E27K Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 27 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) CCTTTAAATTCACTTGTGTGT 0.368000 20 79 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41566465 41566465 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr8:41566465G>A ENST00000396942.1 - 17 1912 c.1829C>T c.(1828-1830)gCc>gTc p.A610V ANK1_ENST00000347528.4_Missense_Mutation_p.A610V|ANK1_ENST00000265709.8_Missense_Mutation_p.A643V|ANK1_ENST00000352337.4_Missense_Mutation_p.A610V|ANK1_ENST00000379758.2_Missense_Mutation_p.A610V|ANK1_ENST00000396945.1_Missense_Mutation_p.A610V|ANK1_ENST00000289734.7_Missense_Mutation_p.A610V P16157 ANK1_HUMAN ankyrin 1, erythrocytic 610 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) GTTCTGCTTGGCAGCGATGTG 0.587000 29 67 0 0 1 0 0 FAM21C 253725 broad.mit.edu 37 10 46261181 46261181 + Nonsense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr10:46261181C>T ENST00000336378.4 + 19 1910 c.1792C>T c.(1792-1794)Cag>Tag p.Q598* FAM21C_ENST00000537517.1_Nonsense_Mutation_p.Q574*|FAM21C_ENST00000540872.1_Nonsense_Mutation_p.Q598*|FAM21C_ENST00000359860.4_Nonsense_Mutation_p.Q542*|FAM21C_ENST00000374362.2_Nonsense_Mutation_p.Q598* NM_015262.2 NP_056077.2 A8K5W5 A8K5W5_HUMAN family with sequence similarity 21, member C 598 central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 TCTACAAGCTCAGAGAGAAGA 0.428000 60 104 0 0 1 0 0 FUT1 2523 broad.mit.edu 37 19 49254224 49254224 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:49254224G>A ENST00000310160.3 - 4 1289 c.315C>T c.(313-315)ctC>ctT p.L105L NM_000148.3 NP_000139.1 P19526 FUT1_HUMAN fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group) 105 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to plasma membrane|membrane fraction galactoside 2-alpha-L-fucosyltransferase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 17 all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222) GGCGGCCGTTGAGCTGGGCCA 0.652000 56 44 0 0 1 0 0 GABPB2 126626 broad.mit.edu 37 1 151063031 151063031 + Silent SNP C C T rs145720065 TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:151063031C>T ENST00000368918.3 + 3 589 c.258C>T c.(256-258)atC>atT p.I86I GABPB2_ENST00000368916.1_Silent_p.I86I|GABPB2_ENST00000368917.1_Silent_p.I86I NM_144618.2 NP_653219.1 Q8TAK5 GABP2_HUMAN GA binding protein transcription factor, beta subunit 2 86 positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus protein heterodimerization activity|transcription regulatory region DNA binding breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7) 15 all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662) ATGCGCACATCGTGGAACTGC 0.488000 33 41 0 0 1 0 0 HOXA2 3199 broad.mit.edu 37 7 27141045 27141045 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr7:27141045C>T ENST00000222718.5 - 2 741 c.431G>A c.(430-432)cGg>cAg p.R144Q NM_006735.3 NP_006726.1 O43364 HXA2_HUMAN homeobox A2 144 nucleus sequence-specific DNA binding transcription factor activity breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1) 22 TCTCAGGCGCCGCGATCCCCC 0.552000 34 22 0 0 1 0 0 ZNF841 284371 broad.mit.edu 37 19 52568376 52568376 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:52568376G>C ENST00000389534.4 - 7 3218 c.2759C>G c.(2758-2760)tCt>tGt p.S920C ZNF841_ENST00000594295.1_Missense_Mutation_p.S920C|ZNF841_ENST00000426391.2_Missense_Mutation_p.S804C|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000359973.2_Missense_Mutation_p.S496C NM_001136499.1 NP_001129971.1 Q6ZN19 ZN841_HUMAN zinc finger protein 841 804 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(3)|lung(3) 11 GGGGATCCCAGAGGTTAGGAC 0.393000 11 21 0 0 1 0 0 UBN1 29855 broad.mit.edu 37 16 4924782 4924782 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:4924782C>T ENST00000396658.4 + 14 3074 c.2371C>T c.(2371-2373)Cac>Tac p.H791Y UBN1_ENST00000590769.1_Missense_Mutation_p.H791Y|UBN1_ENST00000262376.6_Missense_Mutation_p.H791Y|UBN1_ENST00000545171.1_Missense_Mutation_p.H791Y NM_016936.3 NP_058632.2 Q9NPG3 UBN1_HUMAN ubinuclein 1 791 chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity p.H791Y(1) NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 ACGGACGTCTCACGGGCCCCA 0.572000 33 143 0 0 1 0 0 BOLA1 51027 broad.mit.edu 37 1 149871699 149871699 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:149871699C>T ENST00000369153.2 + 3 751 c.87C>T c.(85-87)atC>atT p.I29I BOLA1_ENST00000476344.1_3'UTR|BOLA1_ENST00000369152.5_Silent_p.I29I|BOLA1_ENST00000369150.1_Silent_p.I29I Q9Y3E2 BOLA1_HUMAN bolA family member 1 29 extracellular region protein binding endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1) 10 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) CCGGGGCCATCGGTCCGGTGG 0.692000 33 37 0 0 1 0 0 KRT10 3858 broad.mit.edu 37 17 38975878 38975878 + Silent SNP G G T rs59075499 TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:38975878G>T ENST00000269576.5 - 6 1273 c.1264C>A c.(1264-1266)Cga>Aga p.R422R TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron NM_000421.3 NP_000412 P13645 K1C10_HUMAN keratin 10 422 Coil 2.|Gly-rich.|Rod. R -> E (in AEI; requires 2 nucleotide substitutions; dbSNP:rs59075499). epidermis development protein binding|structural constituent of epidermis NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(137;0.000301) GTTTCAGCTCGAATCTGTTGC 0.493000 43 64 5.44703e-19 5.6611e-19 1 1 0 SIGLEC1 6614 broad.mit.edu 37 20 3670736 3670736 + Silent SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr20:3670736G>C ENST00000344754.4 - 18 4766 c.4767C>G c.(4765-4767)gtC>gtG p.V1589V SIGLEC1_ENST00000202578.4_Silent_p.V1589V NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 1589 Ig-like C2-type 16. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 GGGAAGCCAGGACATGGATGT 0.632000 13 18 0 0 1 0 0 SNX7 51375 broad.mit.edu 37 1 99161081 99161081 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:99161081C>T ENST00000370189.5 + 6 819 c.455C>T c.(454-456)tCt>tTt p.S152F SNX7_ENST00000306121.3_Missense_Mutation_p.S216F|SNX7_ENST00000529992.1_Missense_Mutation_p.S161F Q9UNH6 SNX7_HUMAN sorting nexin 7 152 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2) 13 all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137) Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234) TAGGAACTCTCTTCTCACAAG 0.413000 21 37 0 0 1 0 0 POC5 134359 broad.mit.edu 37 5 74973633 74973633 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr5:74973633G>A ENST00000428202.2 - 11 1739 c.1550C>T c.(1549-1551)tCa>tTa p.S517L POC5_ENST00000510798.1_Intron|POC5_ENST00000514838.2_Missense_Mutation_p.S489L|POC5_ENST00000446329.2_Missense_Mutation_p.S492L|POC5_ENST00000380475.2_Intron NM_001099271.1 NP_001092741.1 Q8NA72 POC5_HUMAN POC5 centriolar protein 517 cell cycle centriole breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 CACAACAACTGAGCTCATGGG 0.393000 20 31 0 0 1 0 0 ACOX1 51 broad.mit.edu 37 17 73945896 73945896 + Nonsense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:73945896G>A ENST00000537812.1 - 10 1915 c.1267C>T c.(1267-1269)Cag>Tag p.Q423* ACOX1_ENST00000301608.4_Nonsense_Mutation_p.Q461*|ACOX1_ENST00000293217.5_Nonsense_Mutation_p.Q461* NM_001185039.1 NP_001171968.1 Q15067 ACOX1_HUMAN acyl-CoA oxidase 1, palmitoyl 461 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process peroxisomal matrix acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1) 14 TGGATGCGCTGACTGGGCAGG 0.507000 34 55 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49445755 49445755 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr12:49445755G>A ENST00000301067.7 - 10 1710 c.1711C>T c.(1711-1713)Cgc>Tgc p.R571C NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GGAGACAGGCGAGATGCTTCA 0.592000 5 184 0 0 1 0 0 ALG10B 144245 broad.mit.edu 37 12 38714458 38714458 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr12:38714458C>T ENST00000308742.4 + 3 1181 c.865C>T c.(865-867)Cct>Tct p.P289S ALG10B_ENST00000551464.1_Intron NM_001013620.3 NP_001013642.1 Q5I7T1 AG10B_HUMAN ALG10B, alpha-1,2-glucosyltransferase 289 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|plasma membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1) 25 Esophageal squamous(101;0.187) Lung NSC(34;0.204)|all_lung(34;0.235) TCTTCATTTTCCTCAACTATT 0.363000 27 100 0 0 1 0 0 METTL2B 55798 broad.mit.edu 37 7 128119542 128119542 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr7:128119542C>T ENST00000480046.1 + 2 453 c.338C>T c.(337-339)tCc>tTc p.S113F METTL2B_ENST00000473488.1_3'UTR|RP11-212P7.3_ENST00000462662.1_RNA|METTL2B_ENST00000262432.8_Missense_Mutation_p.S178F Q6P1Q9 MTL2B_HUMAN methyltransferase like 2B 178 methyltransferase activity breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 TTTCCTGGATCCTCAGCCACC 0.428000 14 75 0 0 1 0 0 NCOR1 9611 broad.mit.edu 37 17 15935647 15935647 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:15935647G>A ENST00000268712.3 - 46 7543 c.7286C>T c.(7285-7287)tCa>tTa p.S2429L NCOR1_ENST00000395851.1_Missense_Mutation_p.S2326L|NCOR1_ENST00000395857.3_Missense_Mutation_p.S1013L NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 2429 Interaction with C1D (By similarity). cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) GTACTGTGCTGAGAGCAGTGG 0.532000 29 17 0 0 1 0 0 STAMBP 10617 broad.mit.edu 37 2 74074826 74074826 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:74074826C>T ENST00000394070.2 + 5 1191 c.688C>T c.(688-690)Cca>Tca p.P230S STAMBP_ENST00000339566.3_Missense_Mutation_p.P230S|STAMBP_ENST00000409707.1_Missense_Mutation_p.P230S|STAMBP_ENST00000536064.1_Intron|STAMBP_ENST00000394073.1_Missense_Mutation_p.P230S NM_213622.2 NP_998787.1 O95630 STABP_HUMAN STAM binding protein 230 Interaction with STAM1. JAK-STAT cascade|positive regulation of cell proliferation early endosome|membrane|nucleus metal ion binding|metallopeptidase activity|protein binding NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 18 GCCAGCTAAGCCACCTGTGGT 0.498000 20 73 0 0 1 0 0 DGKI 9162 broad.mit.edu 37 7 137341245 137341245 + Silent SNP G G A rs139929349 TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr7:137341245G>A ENST00000424189.2 - 4 877 c.648C>T c.(646-648)gtC>gtT p.V216V DGKI_ENST00000446122.1_Silent_p.V216V|DGKI_ENST00000453654.2_5'UTR|DGKI_ENST00000288490.5_Silent_p.V216V O75912 DGKI_HUMAN diacylglycerol kinase, iota 216 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 CGGTGTGGACGACGATTTTAC 0.443000 OREG0018350 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 38 168 0 0 1 0 0 CHAF1A 10036 broad.mit.edu 37 19 4409482 4409482 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:4409482G>A ENST00000301280.5 + 3 787 c.686G>A c.(685-687)gGg>gAg p.G229E NM_005483.2 NP_005474 Q13111 CAF1A_HUMAN chromatin assembly factor 1, subunit A (p150) 229 Binds to CBX1 chromo shadow domain. cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|WINAC complex chromatin binding|chromo shadow domain binding|unfolded protein binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 27 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) AGTGAAGCTGGGGGCATCCTG 0.597000 Chromatin Structure 25 60 0 0 1 0 0 CCPG1 9236 broad.mit.edu 37 15 55651928 55651928 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr15:55651928G>C ENST00000310958.6 - 8 2341 c.2043C>G c.(2041-2043)atC>atG p.I681M CCPG1_ENST00000425574.3_Intron|CCPG1_ENST00000569205.1_Missense_Mutation_p.I681M|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000442196.3_Missense_Mutation_p.I681M NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3 NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2 Q9ULG6 CCPG1_HUMAN cell cycle progression 1 681 cell cycle integral to membrane autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3) 30 all cancers(107;0.0354) AAAACTTATTGATGAACTGAT 0.318000 12 41 0 0 1 0 0 TCF19 6941 broad.mit.edu 37 6 31127452 31127452 + Nonsense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:31127452G>A ENST00000376257.3 + 2 960 c.206G>A c.(205-207)tGg>tAg p.W69* TCF19_ENST00000376255.4_Nonsense_Mutation_p.W69* NM_007109.2 NP_009040.2 Q9Y242 TCF19_HUMAN transcription factor 19 69 FHA. cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1) 9 GGTGATGACTGGAGGGTCAGC 0.637000 18 32 0 0 1 0 0 TDP2 51567 broad.mit.edu 37 6 24651197 24651197 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:24651197G>A ENST00000341060.3 - 6 1129 c.734C>T c.(733-735)tCt>tTt p.S245F TDP2_ENST00000545995.1_Missense_Mutation_p.S333F|TDP2_ENST00000378198.4_Missense_Mutation_p.S303F O95551 TYDP2_HUMAN tyrosyl-DNA phosphodiesterase 2 303 cell surface receptor linked signaling pathway|double-strand break repair PML body 5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity kidney(2)|large_intestine(1)|lung(5)|ovary(1) 9 TCCAAGATTAGAGTTCATTTG 0.413000 Direct reversal of damage 11 36 0 0 1 0 0 AFF1 4299 broad.mit.edu 37 4 88035633 88035633 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr4:88035633G>C ENST00000307808.6 + 11 2047 c.1627G>C c.(1627-1629)Gag>Cag p.E543Q AFF1_ENST00000544085.1_Missense_Mutation_p.E181Q|AFF1_ENST00000395146.4_Missense_Mutation_p.E550Q NM_005935.2 NP_005926.1 P51825 AFF1_HUMAN AF4/FMR2 family, member 1 543 nucleus sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(2) 3 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) GCGGCACCCAGAGAGTAAGGG 0.622000 13 27 0 0 1 0 0 PAQR8 85315 broad.mit.edu 37 6 52268222 52268222 + Nonsense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:52268222C>T ENST00000442253.2 + 2 385 c.211C>T c.(211-213)Cag>Tag p.Q71* PAQR8_ENST00000360726.3_Nonsense_Mutation_p.Q71* NM_133367.4 NP_588608.1 Q8TEZ7 MPRB_HUMAN progestin and adipoQ receptor family member VIII 71 cell differentiation|multicellular organismal development|oogenesis integral to membrane|plasma membrane receptor activity|steroid binding endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2) 17 Lung NSC(77;0.0875) CAGCCTCTTTCAGAAACACAA 0.612000 30 64 0 0 1 0 0 TRBV5-7 28608 broad.mit.edu 37 7 142111625 142111625 + RNA SNP G G T rs143168323 by1000genomes TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr7:142111625G>T ENST00000390378.1 - 0 110 TCAGAGTCACGTGCTGTCCTC 0.532000 5 183 5.68852e-11 5.83564e-11 1 1 0 IP6K2 51447 broad.mit.edu 37 3 48726174 48726174 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:48726174G>A ENST00000328631.5 - 6 1036 c.813C>T c.(811-813)ttC>ttT p.F271F NM_001005909.2|NM_016291.3 NP_001005909.1|NP_057375.2 Q9UHH9 IP6K2_HUMAN inositol hexakisphosphate kinase 2 271 negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway intermediate filament cytoskeleton|nucleus ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 15 ACTTGTTCATGAACATGAGCT 0.592000 23 85 0 0 1 0 0 ZNF628 89887 broad.mit.edu 37 19 55992896 55992896 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:55992896C>T ENST00000598519.1 + 3 889 c.336C>T c.(334-336)agC>agT p.S112S ZNF628_ENST00000391718.2_Silent_p.S108S Q5EBL2 ZN628_HUMAN zinc finger protein 628 108 nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|lung(2) 7 Breast(117;0.155) BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193) GBM - Glioblastoma multiforme(193;0.0531) TCCACCGTAGCGTGCACACCG 0.657000 16 42 0 0 1 0 0 TNFAIP8 25816 broad.mit.edu 37 5 118728704 118728704 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr5:118728704C>T ENST00000504771.2 + 2 2002 c.225C>T c.(223-225)ctC>ctT p.L75L TNFAIP8_ENST00000513374.1_Silent_p.L87L|TNFAIP8_ENST00000504642.1_Silent_p.L77L|TNFAIP8_ENST00000274456.6_Silent_p.L65L|TNFAIP8_ENST00000415806.2_3'UTR|TNFAIP8_ENST00000503646.1_Silent_p.L75L NM_014350.2 NP_055165.2 O95379 TFIP8_HUMAN tumor necrosis factor, alpha-induced protein 8 75 anti-apoptosis|apoptosis|negative regulation of anti-apoptosis cytoplasm caspase inhibitor activity|protein binding ovary(1) 1 all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231) Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829) TCAAGAACCTCATCAAGACAG 0.413000 16 23 0 0 1 0 0 ZCCHC11 23318 broad.mit.edu 37 1 52991561 52991561 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:52991561G>A ENST00000371544.3 - 2 654 c.392C>T c.(391-393)tCa>tTa p.S131L ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000355809.4_Missense_Mutation_p.S131L|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.S131L NM_001009881.2|NM_015269.2 NP_001009881.1|NP_056084.1 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 131 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 TGACTTTGGTGATTTTTCTGC 0.408000 35 103 0 0 1 0 0 NCOA5 57727 broad.mit.edu 37 20 44698875 44698875 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr20:44698875C>T ENST00000290231.6 - 3 503 c.339G>A c.(337-339)atG>atA p.M113I NM_020967.2 NP_066018.1 Q9HCD5 NCOA5_HUMAN nuclear receptor coactivator 5 113 Arg/Asp-rich (mixed charge).|Transcription repression. regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation nucleus aminoacyl-tRNA ligase activity|ATP binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1) 21 Myeloproliferative disorder(115;0.0122) GGGAGTCTCTCATGTCTCTGT 0.428000 27 36 0 0 1 0 0 RND3 390 broad.mit.edu 37 2 151343784 151343784 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:151343784C>T ENST00000375734.2 - 1 397 c.148G>A c.(148-150)Gag>Aag p.E50K RND3_ENST00000263895.4_Missense_Mutation_p.E50K NM_001254738.1 NP_001241667.1 P61587 RND3_HUMAN Rho family GTPase 3 50 actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction Golgi membrane GTP binding|GTPase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.106) ACACTCACCTCGGGGAAGCAG 0.577000 10 11 0 0 1 0 0 AIMP1 9255 broad.mit.edu 37 4 107246142 107246142 + Splice_Site SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr4:107246142G>C ENST00000394701.4 + 2 89 c.48G>C c.(46-48)atG>atC p.M16I AIMP1_ENST00000358008.3_5'UTR|AIMP1_ENST00000442366.1_5'UTR NM_001142416.1 NP_001135888.1 Q12904 AIMP1_HUMAN aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 0 Required for fibroblast proliferation. angiogenesis|apoptosis|cell adhesion|cell-cell signaling|chemotaxis|glucose metabolic process|inflammatory response|leukocyte migration|negative regulation of endothelial cell proliferation|signal transduction|tRNA aminoacylation for protein translation aminoacyl-tRNA synthetase multienzyme complex|cytosol|endoplasmic reticulum|extracellular space|Golgi apparatus|nucleus|transport vesicle cell surface binding|cytokine activity|protein homodimerization activity|tRNA binding breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1) 11 TTTCCTATAGGATTTTCTGCC 0.348000 7 11 0 0 1 0 0 GABRE 2564 broad.mit.edu 37 X 151138851 151138851 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chrX:151138851G>A ENST00000370325.1 - 2 133 c.80C>T c.(79-81)tCa>tTa p.S27L GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370328.3_Missense_Mutation_p.S27L P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, epsilon 27 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) TTCATTCTTTGATTCAGTCTG 0.522000 62 35 0 0 1 0 0 VPS52 6293 broad.mit.edu 37 6 33239358 33239358 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:33239358C>T ENST00000482399.1 - 1 295 c.95G>A c.(94-96)aGa>aAa p.R32K VPS52_ENST00000445902.2_Intron|VPS52_ENST00000478934.1_Intron|VPS52_ENST00000436044.2_Intron Q8N1B4 VPS52_HUMAN vacuolar protein sorting 52 homolog (S. cerevisiae) 0 protein transport endosome membrane|Golgi apparatus endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 28 GCTCCGCGCTCTCACCAGCGG 0.642000 5 7 0 0 1 0 0 MAP4 4134 broad.mit.edu 37 3 47894729 47894729 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:47894729G>A ENST00000426837.2 - 20 6897 c.6810C>T c.(6808-6810)ctC>ctT p.L2270L MAP4_ENST00000264724.11_Silent_p.L860L|MAP4_ENST00000360240.6_Silent_p.L1125L|MAP4_ENST00000383737.4_Silent_p.L784L|MAP4_ENST00000420772.2_Intron|MAP4_ENST00000395734.3_Intron|MAP4_ENST00000441748.2_Intron P27816 MAP4_HUMAN microtubule-associated protein 4 1125 negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2) 32 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) GGTGGCCATTGAGGCCACTGG 0.667000 39 59 0 0 1 0 0 TACR1 6869 broad.mit.edu 37 2 75280779 75280779 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:75280779C>T ENST00000305249.5 - 3 1453 c.688G>A c.(688-690)Ggg>Agg p.G230R TACR1_ENST00000409848.3_Missense_Mutation_p.G230R NM_001058.3 NP_001049.1 P25103 NK1R_HUMAN tachykinin receptor 1 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior integral to plasma membrane protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1) 24 Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894) GAGGAGTCCCCGGGGATCTCA 0.577000 OREG0014726 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 34 24 0 0 1 0 0 TMEM109 79073 broad.mit.edu 37 11 60689575 60689575 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:60689575G>C ENST00000227525.3 + 4 1073 c.670G>C c.(670-672)Gag>Cag p.E224Q TMEM109_ENST00000536171.1_Missense_Mutation_p.E224Q|RP11-881M11.4_ENST00000543907.1_RNA NM_024092.2 NP_076997.1 Q9BVC6 TM109_HUMAN transmembrane protein 109 224 integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1) 8 ACGCCAGGTGGAGGAGCTGCG 0.687000 8 22 0 0 1 0 0 ZNF583 147949 broad.mit.edu 37 19 56935399 56935399 + Missense_Mutation SNP C C A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:56935399C>A ENST00000333201.9 + 5 1582 c.1372C>A c.(1372-1374)Cat>Aat p.H458N ZNF583_ENST00000291598.7_Missense_Mutation_p.H458N|ZNF583_ENST00000585612.1_Intron NM_001159861.1|NM_152478.2 NP_001153333.1|NP_689691.2 Q96ND8 ZN583_HUMAN zinc finger protein 583 458 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1) 26 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0564) TCAGAGAAGTCATACTGGAGA 0.408000 24 84 1.9806e-07 2.01589e-07 1 1 0 BIRC6 57448 broad.mit.edu 37 2 32626664 32626664 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:32626664C>T ENST00000421745.2 + 8 1525 c.1391C>T c.(1390-1392)tCa>tTa p.S464L NM_016252.3 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 464 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) TCTAGTTGCTCAGATATACCA 0.378000 43 54 0 0 1 0 0 FNDC3B 64778 broad.mit.edu 37 3 172080474 172080474 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:172080474C>T ENST00000336824.4 + 23 2946 c.2847C>T c.(2845-2847)ttC>ttT p.F949F FNDC3B_ENST00000416957.1_Silent_p.F949F|FNDC3B_ENST00000415807.2_Silent_p.F949F NM_001135095.1 NP_001128567.1 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 949 Fibronectin type-III 7. endoplasmic reticulum|integral to membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 69 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) TTAGTCAGTTCATTAAAGCAA 0.433000 25 52 0 0 1 0 0 ORC6 23594 broad.mit.edu 37 16 46726423 46726423 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:46726423G>A ENST00000566860.1 + 2 465 c.178G>A c.(178-180)Gaa>Aaa p.E60K ORC6_ENST00000219097.2_Missense_Mutation_p.E109K|ORC6_ENST00000568364.2_Missense_Mutation_p.E109K Q9Y5N6 ORC6_HUMAN origin recognition complex, subunit 6 109 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle nuclear origin of replication recognition complex|nucleoplasm DNA binding|protein binding endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1) 8 TAGCTGTATAGAAGCAGTGAA 0.413000 20 77 0 0 1 0 0 SCAF11 9169 broad.mit.edu 37 12 46321035 46321035 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr12:46321035G>A ENST00000465950.1 - 1 2713 c.1504C>T c.(1504-1506)Cca>Tca p.P502S SCAF11_ENST00000369367.3_Missense_Mutation_p.P817S|SCAF11_ENST00000419565.2_Missense_Mutation_p.P817S|SCAF11_ENST00000549162.1_Missense_Mutation_p.P625S Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 817 spliceosome assembly nucleus protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 CTGGGAGATGGAGACTGGGGC 0.468000 18 63 0 0 1 0 0 DUSP12 11266 broad.mit.edu 37 1 161719828 161719828 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:161719828C>T ENST00000367943.4 + 1 269 c.237C>T c.(235-237)ttC>ttT p.F79F NM_007240.1 NP_009171.1 Q9UNI6 DUS12_HUMAN dual specificity phosphatase 12 79 positive regulation of glucokinase activity cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|lung(1) 5 all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00634) GGCGCCTCTTCGTGCCAGCGC 0.662000 27 90 0 0 1 0 0 SLX4 84464 broad.mit.edu 37 16 3640393 3640393 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:3640393C>T ENST00000294008.3 - 12 3886 c.3246G>A c.(3244-3246)caG>caA p.Q1082Q NM_032444.2 NP_115820.2 Q8IY92 SLX4_HUMAN SLX4 structure-specific endonuclease subunit 1082 Interaction with PLK1 and TERF2-TERF2IP. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 TGTCCCTTTTCTGCTTTGATG 0.587000 Direct reversal of damage 41 142 0 0 1 0 0 ATP6V0D2 245972 broad.mit.edu 37 8 87162411 87162411 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr8:87162411G>A ENST00000285393.3 + 6 852 c.710G>A c.(709-711)cGa>cAa p.R237Q CTD-3118D11.2_ENST00000522679.1_RNA NM_152565.1 NP_689778.1 Q8N8Y2 VA0D2_HUMAN ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 237 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex hydrogen ion transmembrane transporter activity|protein binding breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1) 27 AAAGAAGACCGAGAGACCCTC 0.463000 20 56 0 0 1 0 0 GRK6 2870 broad.mit.edu 37 5 176860605 176860605 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr5:176860605C>T ENST00000355472.5 + 8 834 c.666C>T c.(664-666)atC>atT p.I222I GRK6_ENST00000355958.5_Silent_p.I222I|GRK6_ENST00000393576.3_Silent_p.I222I|GRK6_ENST00000507633.1_Silent_p.I222I|GRK6_ENST00000528793.1_Silent_p.I222I NM_001004106.2|NM_002082.3 NP_001004106.1|NP_002073.2 P43250 GRK6_HUMAN G protein-coupled receptor kinase 6 222 Protein kinase. regulation of G-protein coupled receptor protein signaling pathway membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1) 25 all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AAAAGCGGATCAAGAAGCGGA 0.557000 43 56 0 0 1 0 0 C17orf70 80233 broad.mit.edu 37 17 79517476 79517476 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:79517476G>A ENST00000537152.1 - 3 1116 c.591C>T c.(589-591)ctC>ctT p.L197L C17orf70_ENST00000327787.8_Silent_p.L348L NM_025161.5 NP_079437.5 Q0VG06 FP100_HUMAN chromosome 17 open reading frame 70 348 DNA repair cytoplasm|intermediate filament cytoskeleton|nucleoplasm DNA binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 19 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371) AGGCAGCGCAGAGCACAGGGC 0.682000 31 55 0 0 1 0 0 C6orf62 81688 broad.mit.edu 37 6 24714636 24714636 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:24714636G>A ENST00000378119.4 - 3 2506 c.339C>T c.(337-339)ttC>ttT p.F113F C6orf62_ENST00000540769.1_Silent_p.F55F|C6orf62_ENST00000378102.3_Silent_p.F84F NM_030939.4 NP_112201.1 Q9GZU0 CF062_HUMAN chromosome 6 open reading frame 62 113 intracellular endometrium(2)|kidney(3)|large_intestine(2)|lung(3) 10 GCCAAAGAATGAAATCCATCT 0.348000 31 33 0 0 1 0 0 GOLGB1 2804 broad.mit.edu 37 3 121414660 121414660 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:121414660G>A ENST00000393667.3 - 13 4820 c.4710C>T c.(4708-4710)ctC>ctT p.L1570L GOLGB1_ENST00000340645.5_Silent_p.L1565L NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 1565 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) AGGAGCTGCTGAGACTCTGAT 0.368000 42 79 0 0 1 0 0 LRP4 4038 broad.mit.edu 37 11 46916341 46916341 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:46916341G>A ENST00000378623.1 - 12 1581 c.1339C>T c.(1339-1341)Cgc>Tgc p.R447C NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 447 endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) ATGTCGATGCGATTGGCGAAC 0.572000 25 57 0 0 1 0 0 RHOV 171177 broad.mit.edu 37 15 41165271 41165271 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr15:41165271G>A ENST00000220507.4 - 3 845 c.696C>T c.(694-696)ttC>ttT p.F232F NM_133639.3 NP_598378.3 Q96L33 RHOV_HUMAN ras homolog family member V 232 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endosome membrane|plasma membrane GTP binding|metal ion binding central_nervous_system(1)|large_intestine(1) 2 all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163) CGAAGCAGAAGAACTTCTTCC 0.567000 37 37 0 0 1 0 0 IKBKB 3551 broad.mit.edu 37 8 42175234 42175234 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr8:42175234C>T ENST00000520810.1 + 12 1371 c.1185C>T c.(1183-1185)atC>atT p.I395I IKBKB_ENST00000416505.2_Silent_p.I336I|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000379708.3_Silent_p.I172I|IKBKB_ENST00000520835.1_Silent_p.I393I NM_001556.2 NP_001547.1 O14920 IKKB_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta 395 anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|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 CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft ATP binding|identical protein binding|IkappaB kinase activity breast(4)|lung(1)|ovary(2)|skin(1) 8 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264) Arsenic trioxide(DB01169)|Auranofin(DB00995) ACAGTAAAATCACCTATGAGA 0.393000 18 52 0 0 1 0 0 EML5 161436 broad.mit.edu 37 14 89083213 89083213 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr14:89083213C>T ENST00000554922.1 - 42 5901 c.5653G>A c.(5653-5655)Gat>Aat p.D1885N EML5_ENST00000352093.5_Missense_Mutation_p.D1839N|EML5_ENST00000380664.5_Missense_Mutation_p.D1877N NM_183387.2 NP_899243.1 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 5 1877 cytoplasm|microtubule breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 AAAACCTCATCTCCTAGAATA 0.413000 25 46 0 0 1 0 0 EHMT1 79813 broad.mit.edu 37 9 140657180 140657180 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:140657180C>T ENST00000460843.1 + 10 1582 c.1555C>T c.(1555-1557)Ctc>Ttc p.L519F EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Missense_Mutation_p.L488F|EHMT1_ENST00000462484.1_Missense_Mutation_p.L519F NM_024757.4 NP_079033.4 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 519 DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) GGAAGTGCCTCTCTGCAGCTG 0.552000 25 51 0 0 1 0 0 ATP8B4 79895 broad.mit.edu 37 15 50264936 50264936 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr15:50264936C>G ENST00000284509.6 - 13 1227 c.1086G>C c.(1084-1086)aaG>aaC p.K362N ATP8B4_ENST00000559829.1_Missense_Mutation_p.K362N NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 362 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) AATAATACATCTTCCGGTCCC 0.398000 14 61 0 0 1 0 0 MORC2 22880 broad.mit.edu 37 22 31333818 31333818 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr22:31333818C>G ENST00000397641.3 - 14 1761 c.1353G>C c.(1351-1353)tgG>tgC p.W451C MORC2_ENST00000215862.4_Missense_Mutation_p.W389C|MORC2_ENST00000469915.1_Intron Q9Y6X9 MORC2_HUMAN MORC family CW-type zinc finger 2 ATP binding|zinc ion binding breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 21 CAATATCCTTCCAATACTGCG 0.557000 31 79 0 0 1 0 0 PTH2R 5746 broad.mit.edu 37 2 209302336 209302336 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:209302336C>G ENST00000272847.2 + 3 466 c.253C>G c.(253-255)Cca>Gca p.P85A PTH2R_ENST00000413482.1_3'UTR NM_005048.2 NP_005039.1 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor 85 integral to plasma membrane parathyroid hormone receptor activity breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) ATCGGCTGTTCCATGCCCTCC 0.323000 18 13 0 0 1 0 0 TNNT1 7138 broad.mit.edu 37 19 55652617 55652617 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:55652617G>C ENST00000588981.1 - 8 450 c.246C>G c.(244-246)atC>atG p.I82M TNNT1_ENST00000536926.1_Missense_Mutation_p.I71M|TNNT1_ENST00000291901.8_Missense_Mutation_p.I82M|TNNT1_ENST00000356783.5_Missense_Mutation_p.I71M|TNNT1_ENST00000588426.1_Intron|TNNT1_ENST00000585321.2_Missense_Mutation_p.I12M|TNNT1_ENST00000587465.2_Missense_Mutation_p.I12M|TNNT1_ENST00000587758.1_Missense_Mutation_p.I71M|TNNT1_ENST00000592920.1_5'UTR NM_003283.4 NP_003274.3 P13805 TNNT1_HUMAN troponin T type 1 (skeletal, slow) 82 muscle filament sliding|negative regulation of muscle contraction cytosol|troponin complex tropomyosin binding p.I82I(1) endometrium(2)|kidney(3)|lung(4)|ovary(1) 10 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.047) AATGTACATCGATGAGTGTCT 0.612000 OREG0025677 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 76 0 0 1 0 0 NR4A2 4929 broad.mit.edu 37 2 157182448 157182448 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:157182448G>C ENST00000409108.2 - 8 1542 c.1501C>G c.(1501-1503)Caa>Gaa p.Q501E NR4A2_ENST00000409572.1_Silent_p.L535L|NR4A2_ENST00000339562.4_Silent_p.L535L|NR4A2_ENST00000539077.1_Silent_p.L546L|NR4A2_ENST00000426264.1_Silent_p.L472L|NR4A2_ENST00000429376.1_Missense_Mutation_p.Q438E P43354 NR4A2_HUMAN nuclear receptor subfamily 4, group A, member 2 0 cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus nucleoplasm sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 40 CGTGGTCTTTGAGACAATTTA 0.448000 71 44 0 0 1 0 0 DUSP2 1844 broad.mit.edu 37 2 96809639 96809639 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:96809639G>A ENST00000288943.4 - 4 953 c.868C>T c.(868-870)Cgc>Tgc p.R290C NM_004418.3 NP_004409.1 Q05923 DUS2_HUMAN dual specificity phosphatase 2 290 Tyrosine-protein phosphatase. endoderm formation|inactivation of MAPK activity|regulation of apoptosis nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity NS(1)|breast(1)|lung(2)|skin(1) 5 Ovarian(717;0.0228) ACCCCCCGGCGCTGCTTAACG 0.622000 25 24 0 0 1 0 0 MMP26 56547 broad.mit.edu 37 11 5012624 5012624 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:5012624G>C ENST00000380390.1 + 5 709 c.493G>C c.(493-495)Gat>Cat p.D165H MMP26_ENST00000300762.1_Missense_Mutation_p.D165H Q9NRE1 MMP26_HUMAN matrix metallopeptidase 26 165 collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1) 22 Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227) Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191) TTGGCCCTTTGATGGGCCAGG 0.463000 86 190 0 0 1 0 0 RPUSD3 285367 broad.mit.edu 37 3 9885262 9885262 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:9885262G>C ENST00000383820.5 - 2 150 c.149C>G c.(148-150)tCc>tGc p.S50C RPUSD3_ENST00000424438.1_Missense_Mutation_p.S18C|RPUSD3_ENST00000485705.1_5'UTR|RPUSD3_ENST00000433535.2_Missense_Mutation_p.S50C|TTLL3_ENST00000455274.1_Intron NM_173659.3 NP_775930.2 Q6P087 RUSD3_HUMAN RNA pseudouridylate synthase domain containing 3 50 pseudouridine synthesis pseudouridine synthase activity|RNA binding central_nervous_system(2)|endometrium(3)|lung(2) 7 Medulloblastoma(99;0.227) CCGTTGGCAGGAGCCGCGGGG 0.657000 14 39 0 0 1 0 0 CC2D1A 54862 broad.mit.edu 37 19 14037518 14037518 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:14037518G>C ENST00000318003.7 + 19 2294 c.2053G>C c.(2053-2055)Gac>Cac p.D685H CC2D1A_ENST00000589606.1_Missense_Mutation_p.D685H NM_017721.4 NP_060191.3 Q6P1N0 C2D1A_HUMAN coiled-coil and C2 domain containing 1A 685 C2. positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|plasma membrane DNA binding|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 27 OV - Ovarian serous cystadenocarcinoma(19;3.49e-23) TGTTCGGTTTGACTTCCCCTA 0.622000 51 110 0 0 1 0 0 SLCO1B1 10599 broad.mit.edu 37 12 21331609 21331609 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr12:21331609C>G ENST00000256958.2 + 6 677 c.581C>G c.(580-582)tCt>tGt p.S194C NM_006446.4 NP_006437.3 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, member 1B1 194 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 70 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) TTGGGGCTTTCTTACATTGAT 0.358000 21 49 0 0 1 0 0 FUZ 80199 broad.mit.edu 37 19 50310454 50310454 + Missense_Mutation SNP C C T rs137955120 by1000genomes TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:50310454C>T ENST00000313777.4 - 11 1374 c.1211G>A c.(1210-1212)cGa>cAa p.R404Q FUZ_ENST00000445575.2_Intron|FUZ_ENST00000528094.1_Missense_Mutation_p.R368Q|FUZ_ENST00000533418.1_Missense_Mutation_p.R354Q NM_025129.4 NP_079405.2 Q9BT04 FUZZY_HUMAN fuzzy planar cell polarity protein 404 Leu-rich. cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway cytoplasm|cytoskeleton endometrium(1)|lung(3) 4 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116) GGCCAGGCTTCGCAGCCCATG 0.617000 33 57 0 0 1 0 0 EXOC2 55770 broad.mit.edu 37 6 592473 592473 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:592473C>T ENST00000230449.4 - 11 1323 c.1188G>A c.(1186-1188)ctG>ctA p.L396L EXOC2_ENST00000448181.3_Intron NM_018303.5 NP_060773.3 Q96KP1 EXOC2_HUMAN exocyst complex component 2 396 exocytosis|protein transport breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2) 46 Ovarian(93;0.0733) Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897) OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14) CCTTGCCTTTCAGATCTTTCA 0.443000 10 35 0 0 1 0 0 NUP50 10762 broad.mit.edu 37 22 45574572 45574572 + Missense_Mutation SNP G G T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr22:45574572G>T ENST00000347635.4 + 5 1260 c.794G>T c.(793-795)gGa>gTa p.G265V NUP50_ENST00000425733.2_Missense_Mutation_p.G15V|NUP50_ENST00000396096.2_Missense_Mutation_p.G237V|NUP50_ENST00000407019.2_Missense_Mutation_p.G237V NM_007172.3 NP_009103.2 Q9UKX7 NUP50_HUMAN nucleoporin 50kDa 5 X 2 AA repeats of F-G. carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore|nucleoplasm protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 9 Ovarian(80;0.00965)|all_neural(38;0.0244) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) TCATCACTAGGAGCGACAAGT 0.443000 12 29 9.05144e-12 9.31229e-12 1 1 0 SETX 23064 broad.mit.edu 37 9 135205093 135205093 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:135205093G>A ENST00000372169.2 - 10 2074 c.1892C>T c.(1891-1893)tCt>tTt p.S631F SETX_ENST00000224140.5_Missense_Mutation_p.S631F|SETX_ENST00000393220.1_Missense_Mutation_p.S631F Q7Z333 SETX_HUMAN senataxin 631 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) ATCTTTTCTAGACGTCTTCCC 0.368000 13 47 0 0 1 0 0 CCDC176 80127 broad.mit.edu 37 14 74516525 74516525 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr14:74516525G>A ENST00000394009.3 + 8 1036 c.913G>A c.(913-915)Gag>Aag p.E305K AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000553773.1_Missense_Mutation_p.E30K NM_025057.2 NP_079333.2 coiled-coil domain containing 176 CATGACCAAAGAGTTTGAGAG 0.413000 15 48 0 0 1 0 0 HAND1 9421 broad.mit.edu 37 5 153857471 153857471 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr5:153857471G>A ENST00000231121.2 - 1 353 c.98C>T c.(97-99)tCg>tTg p.S33L NM_004821.2 NP_004812.1 O96004 HAND1_HUMAN heart and neural crest derivatives expressed 1 33 angiogenesis|cardiac left ventricle formation|cardiac right ventricle formation|cardiac septum morphogenesis|heart looping|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|trophectodermal cell differentiation|ventricular cardiac muscle tissue morphogenesis cytoplasm|nucleolus|nucleoplasm bHLH transcription factor binding|DNA binding|protein homodimerization activity|transcription coactivator activity endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 6 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) ATGACAGCGCGAGGCCGGACC 0.687000 35 101 0 0 1 0 0 KIN 22944 broad.mit.edu 37 10 7817736 7817736 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr10:7817736G>A ENST00000379562.4 - 6 632 c.585C>T c.(583-585)agC>agT p.S195S KIN_ENST00000535925.1_Silent_p.S195S|KIN_ENST00000543003.1_Silent_p.S89S NM_012311.3 NP_036443.1 O60870 KIN17_HUMAN KIN, antigenic determinant of recA protein homolog (mouse) DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing cytoplasm|nuclear matrix double-stranded DNA binding|RNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2) 19 CATTTTCTCTGCTTAATTCCG 0.284000 7 23 0 0 1 0 0 C15orf52 388115 broad.mit.edu 37 15 40627489 40627489 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr15:40627489G>A ENST00000397536.2 - 7 880 c.845C>T c.(844-846)tCt>tTt p.S282F C15orf52_ENST00000559313.1_Missense_Mutation_p.S492F Q6ZUT6 CO052_HUMAN chromosome 15 open reading frame 52 492 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1) 19 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841) AGACTTGCCAGACCTGTCTTC 0.662000 94 81 0 0 1 0 0 DVL1 1855 broad.mit.edu 37 1 1277116 1277116 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:1277116G>A ENST00000378888.5 - 5 820 c.536C>T c.(535-537)tCc>tTc p.S179F DVL1_ENST00000378891.5_Missense_Mutation_p.S179F O14640 DVL1_HUMAN dishevelled segment polarity protein 1 179 canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome frizzled binding|identical protein binding|protein kinase binding|signal transducer activity endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) GAGGGCGGTGGACGCGCTGTC 0.672000 5 13 0 0 1 0 0 SLFN5 162394 broad.mit.edu 37 17 33586669 33586669 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:33586669G>A ENST00000299977.4 + 2 1108 c.960G>A c.(958-960)gtG>gtA p.V320V SLFN5_ENST00000592325.1_Silent_p.V320V|SLFN5_ENST00000542451.1_Silent_p.V320V NM_144975.3 NP_659412.3 Q08AF3 SLFN5_HUMAN schlafen family member 5 320 cell differentiation ATP binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2) 34 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0191) ACAACCGTGTGAGACAATTGC 0.512000 37 92 0 0 1 0 0 PHLPP1 23239 broad.mit.edu 37 18 60646244 60646244 + Missense_Mutation SNP G G T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr18:60646244G>T ENST00000400316.4 + 17 4979 c.3198G>T c.(3196-3198)gaG>gaT p.E1066D PHLPP1_ENST00000262719.5_Missense_Mutation_p.E1578D NM_194449.3 NP_919431.2 O60346 PHLP1_HUMAN PH domain and leucine rich repeat protein phosphatase 1 1578 apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol|membrane|nucleus metal ion binding|protein serine/threonine phosphatase activity endometrium(2)|kidney(2)|lung(13) 17 AGGAGAAGGAGAAACAGCAGC 0.612000 17 21 9.16793e-09 9.35129e-09 1 1 0 TTC39B 158219 broad.mit.edu 37 9 15188060 15188060 + Nonsense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:15188060C>T ENST00000512701.2 - 14 1340 c.1304G>A c.(1303-1305)tGg>tAg p.W435* TTC39B_ENST00000507285.1_Nonsense_Mutation_p.W270*|TTC39B_ENST00000297615.5_Nonsense_Mutation_p.W366*|TTC39B_ENST00000380850.4_Nonsense_Mutation_p.W422*|TTC39B_ENST00000355694.2_Nonsense_Mutation_p.W369*|TTC39B_ENST00000507993.1_Nonsense_Mutation_p.W270* Q5VTQ0 TT39B_HUMAN tetratricopeptide repeat domain 39B binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1) 21 CATTAGCTCCCAGTAGCAGAG 0.378000 18 55 0 0 1 0 0 DOK2 9046 broad.mit.edu 37 8 21767043 21767043 + Nonsense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr8:21767043G>A ENST00000276420.4 - 5 1276 c.1018C>T c.(1018-1020)Cga>Tga p.R340* DOK2_ENST00000544659.1_Nonsense_Mutation_p.R186* NM_003974.2 NP_003965.2 O60496 DOK2_HUMAN docking protein 2, 56kDa 340 Pro-rich. blood coagulation|leukocyte migration cytosol identical protein binding|insulin receptor binding NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1) 26 Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608) TGGTCAGGTCGAGGGGGCAGG 0.647000 40 69 0 0 1 0 0 NR1I2 8856 broad.mit.edu 37 3 119528977 119528977 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:119528977G>C ENST00000393716.2 + 3 2106 c.267G>C c.(265-267)aaG>aaC p.K89N NR1I2_ENST00000337940.4_Missense_Mutation_p.K128N|NR1I2_ENST00000466380.1_Missense_Mutation_p.K89N NM_003889.3 NP_003880 O75469 NR1I2_HUMAN nuclear receptor subfamily 1, group I, member 2 89 drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport nucleoplasm drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3) 23 GBM - Glioblastoma multiforme(114;0.175) Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163) TCACCCGGAAGACCCGGCGAC 0.701000 17 36 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85636514 85636514 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr4:85636514G>C ENST00000322366.6 - 49 8254 c.7847C>G c.(7846-7848)tCt>tGt p.S2616C WDFY3_ENST00000295888.4_Missense_Mutation_p.S2633C Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 2633 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TCCATCTCCAGAGAAAACTTC 0.323000 24 48 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139603669 139603669 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr8:139603669G>A ENST00000303045.6 - 64 5137 c.4691C>T c.(4690-4692)cCa>cTa p.P1564L COL22A1_ENST00000435777.1_Missense_Mutation_p.P1544L|COL22A1_ENST00000341807.4_5'UTR NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1564 Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) AGTCATACCTGGGATTCCAGG 0.607000 HNSCC(7;0.00092) 5 12 0 0 1 0 0 DBR1 51163 broad.mit.edu 37 3 137881101 137881101 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:137881101G>A ENST00000260803.4 - 8 1418 c.1265C>T c.(1264-1266)tCt>tTt p.S422F DBR1_ENST00000505015.2_Missense_Mutation_p.S188F NM_016216.3 NP_057300.2 Q9UK59 DBR1_HUMAN debranching RNA lariats 1 422 nucleus metal ion binding|RNA lariat debranching enzyme activity NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 15 ATTAATAGAAGACAGAGCAGA 0.378000 19 36 0 0 1 0 0 ZNF365 22891 broad.mit.edu 37 10 64159308 64159308 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr10:64159308G>A ENST00000395254.3 + 5 1264 c.984G>A c.(982-984)tcG>tcA p.S328S ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000466727.1_3'UTR|ZNF365_ENST00000395255.3_Intron NM_014951.2 NP_055766.2 Q70YC4 TALAN_HUMAN zinc finger protein 365 0 p.S328S(1) breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 Prostate(12;0.0297)|all_hematologic(501;0.228) ACCCGCATTCGGTATGTAACC 0.498000 166 111 0 0 1 0 0 OR2L2 26246 broad.mit.edu 37 1 248202255 248202255 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:248202255C>T ENST00000366479.2 + 1 782 c.686C>T c.(685-687)tCt>tTt p.S229F OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 229 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) CGCATGCACTCTGCAGAAGGG 0.488000 44 106 0 0 1 0 0 EIF2S1 1965 broad.mit.edu 37 14 67847384 67847384 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr14:67847384C>T ENST00000256383.4 + 5 943 c.482C>T c.(481-483)tCt>tTt p.S161F EIF2S1_ENST00000466499.2_Missense_Mutation_p.S161F NM_004094.4 NP_004085.1 P05198 IF2A_HUMAN eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa 161 cytosol|eukaryotic translation initiation factor 2 complex|polysome|stress granule protein binding|ribosome binding|translation initiation factor activity breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 9 all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937) AGAGACCCATCTATTTTGGAT 0.333000 28 25 0 0 1 0 0 INTS2 57508 broad.mit.edu 37 17 59989042 59989042 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:59989042G>A ENST00000444766.3 - 7 892 c.817C>T c.(817-819)Cac>Tac p.H273Y INTS2_ENST00000251334.6_Missense_Mutation_p.H265Y NM_020748.2 NP_065799 Q9H0H0 INT2_HUMAN integrator complex subunit 2 273 snRNA processing integral to membrane|integrator complex|nuclear membrane protein binding NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 38 CCTGGCAAGTGACATTCTTCC 0.388000 12 12 0 0 1 0 0 NFAT5 10725 broad.mit.edu 37 16 69727328 69727328 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:69727328C>G ENST00000349945.1 + 14 4870 c.3318C>G c.(3316-3318)ttC>ttG p.F1106L NFAT5_ENST00000567239.1_Missense_Mutation_p.F1199L|NFAT5_ENST00000393742.2_Missense_Mutation_p.F1106L|NFAT5_ENST00000566899.1_Missense_Mutation_p.F1106L|NFAT5_ENST00000354436.2_Missense_Mutation_p.F1182L|NFAT5_ENST00000432919.1_Missense_Mutation_p.F1200L NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 1182 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 AAGCTGCTTTCCAACAGCAAG 0.478000 34 97 0 0 1 0 0 NUPL1 9818 broad.mit.edu 37 13 25876001 25876001 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr13:25876001C>T ENST00000463407.1 + 1 233 c.90C>T c.(88-90)ttC>ttT p.F30F NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000381736.3_Silent_p.F30F|NUPL1_ENST00000381718.3_Silent_p.F30F Q9BVL2 NUPL1_HUMAN nucleoporin like 1 30 14 X 2 AA repeats of F-G. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1) 16 Lung SC(185;0.0225)|Breast(139;0.0351) all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244) TTTTCTCCTTCGGAACGGGAG 0.667000 11 9 0 0 1 0 0 KIAA0196 9897 broad.mit.edu 37 8 126091032 126091032 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr8:126091032G>A ENST00000318410.7 - 6 1008 c.659C>T c.(658-660)tCc>tTc p.S220F KIAA0196_ENST00000517845.1_Missense_Mutation_p.S72F NM_014846.3 NP_055661.3 Q12768 STRUM_HUMAN KIAA0196 220 cell death WASH complex NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 42 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) ACTGATGAAGGATTCGTTGAT 0.413000 25 62 0 0 1 0 0 GAPVD1 26130 broad.mit.edu 37 9 128109130 128109130 + Nonsense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:128109130C>T ENST00000470056.1 + 17 3158 c.2998C>T c.(2998-3000)Cag>Tag p.Q1000* GAPVD1_ENST00000312123.9_Nonsense_Mutation_p.Q1006*|GAPVD1_ENST00000394105.2_Nonsense_Mutation_p.Q1054*|GAPVD1_ENST00000495955.1_Nonsense_Mutation_p.Q1027*|GAPVD1_ENST00000265956.4_Nonsense_Mutation_p.Q1001*|GAPVD1_ENST00000394083.2_Nonsense_Mutation_p.Q979*|GAPVD1_ENST00000394104.2_Nonsense_Mutation_p.Q1027*|GAPVD1_ENST00000297933.6_Nonsense_Mutation_p.Q1027* Q14C86 GAPD1_HUMAN GTPase activating protein and VPS9 domains 1 1027 endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction cytosol|endosome|membrane GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 TGCACAAGCTCAGGTGGCTGA 0.473000 23 25 0 0 1 0 0 HIST1H2BD 3017 broad.mit.edu 37 6 26158517 26158517 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:26158517G>A ENST00000289316.2 + 1 144 c.120G>A c.(118-120)gtG>gtA p.V40V HIST1H2BD_ENST00000377777.4_Silent_p.V40V NM_138720.2 NP_619790.1 P58876 H2B1D_HUMAN histone cluster 1, H2bd 40 nucleosome assembly nucleosome|nucleus DNA binding breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 24 GCTATTCAGTGTATGTGTACA 0.552000 10 242 0 0 1 0 0 SENP6 26054 broad.mit.edu 37 6 76372980 76372980 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:76372980C>T ENST00000370014.3 + 9 1359 c.740C>T c.(739-741)tCt>tTt p.S247F SENP6_ENST00000447266.2_Missense_Mutation_p.S247F|SENP6_ENST00000327284.8_Missense_Mutation_p.S240F|SENP6_ENST00000370010.2_Missense_Mutation_p.S240F NM_001100409.1 NP_001093879.1 Q9GZR1 SENP6_HUMAN SUMO1/sentrin specific peptidase 6 247 proteolysis cytoplasm|nucleus cysteine-type peptidase activity breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(105;0.189) TTGAATGAGTCTACTGGACCA 0.358000 26 43 0 0 1 0 0 KBTBD6 89890 broad.mit.edu 37 13 41705512 41705512 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr13:41705512G>A ENST00000379485.1 - 1 1370 c.1136C>T c.(1135-1137)aCt>aTt p.T379I KBTBD6_ENST00000499385.2_Missense_Mutation_p.T313I NM_152903.4 NP_690867.3 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain containing 6 379 protein binding NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4) 43 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) GACAGTCCTAGTGTGAGCCAG 0.512000 70 38 0 0 1 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43953477 43953477 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:43953477G>C ENST00000282406.4 + 17 2718 c.2608G>C c.(2608-2610)Gat>Cat p.D870H NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 870 PH 2. cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TTGTGATTCAGATGAAGATTA 0.398000 16 28 0 0 1 0 0 SHROOM1 134549 broad.mit.edu 37 5 132159853 132159853 + Silent SNP G G A rs148747378 byFrequency TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr5:132159853G>A ENST00000378679.3 - 7 2304 c.1500C>T c.(1498-1500)ctC>ctT p.L500L SHROOM1_ENST00000378676.1_Silent_p.L431L|SHROOM1_ENST00000319854.3_Silent_p.L500L NM_001172700.1 NP_001166171.1 Q2M3G4 SHRM1_HUMAN shroom family member 1 500 actin filament bundle assembly|cell morphogenesis cytoplasm|microtubule actin filament binding endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GGACAGGTTTGAGGAGGTCAC 0.567000 30 55 0 0 1 0 0 NFIB 4781 broad.mit.edu 37 9 14146736 14146736 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:14146736G>C ENST00000380959.3 - 6 1350 c.877C>G c.(877-879)Cca>Gca p.P293A NFIB_ENST00000397581.2_Missense_Mutation_p.P293A|NFIB_ENST00000397575.3_Missense_Mutation_p.P293A|NFIB_ENST00000380924.1_Missense_Mutation_p.P41A|NFIB_ENST00000543693.1_Missense_Mutation_p.P41A|NFIB_ENST00000397579.2_Missense_Mutation_p.P293A|NFIB_ENST00000380953.1_Missense_Mutation_p.P293A|NFIB_ENST00000380934.4_Missense_Mutation_p.P319A NM_005596.3 NP_005587.2 O00712 NFIB_HUMAN nuclear factor I/B 293 anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation cerebellar mossy fiber|nucleolus|nucleus RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164) GGTGAACTTGGAGAGGGGTAA 0.398000 T """MYB, HGMA2""" """adenoid cystic carcinoma, lipoma""" 33 71 0 0 1 0 0 DBF4 10926 broad.mit.edu 37 7 87536595 87536595 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr7:87536595C>G ENST00000265728.1 + 12 1646 c.1142C>G c.(1141-1143)tCt>tGt p.S381C NM_006716.3 NP_006707.1 Q9UBU7 DBF4A_HUMAN DBF4 homolog (S. cerevisiae) 381 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding p.S381Y(1) endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3) 28 Esophageal squamous(14;0.00202) Breast(660;0.0334) CAACATATTTCTCAGAAAGAT 0.373000 33 133 0 0 1 0 0 TIMM21 29090 broad.mit.edu 37 18 71822567 71822567 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr18:71822567G>C ENST00000580087.1 + 3 677 c.391G>C c.(391-393)Gaa>Caa p.E131Q TIMM21_ENST00000169551.6_Missense_Mutation_p.E131Q Q9BVV7 TI21L_HUMAN translocase of inner mitochondrial membrane 21 homolog (yeast) 131 protein transport|transmembrane transport integral to membrane|mitochondrial membrane GATTTTCAAAGAACTTTTTTC 0.368000 32 42 0 0 1 0 0 MYPN 84665 broad.mit.edu 37 10 69882049 69882049 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr10:69882049G>A ENST00000358913.5 + 2 1342 c.854G>A c.(853-855)cGa>cAa p.R285Q MYPN_ENST00000540630.1_Missense_Mutation_p.R285Q|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000373675.3_Missense_Mutation_p.R285Q NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin 285 Ig-like 1.|Interaction with CARP. nucleus|sarcomere actin binding breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 GAAGGAACTCGAGTACAGTTG 0.468000 22 33 0 0 1 0 0 ZHX2 22882 broad.mit.edu 37 8 123964020 123964020 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr8:123964020G>A ENST00000314393.4 + 3 1105 c.270G>A c.(268-270)ctG>ctA p.L90L NM_014943.3 NP_055758.1 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 90 cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 45 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) CGCAAAACCTGAACGAGTTCA 0.468000 38 60 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102504909 102504909 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr14:102504909C>T ENST00000360184.4 + 58 11185 c.11021C>T c.(11020-11022)tCg>tTg p.S3674L RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 3674 AAA 5 (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 CTGTCGCCATCGTTTGTCATC 0.542000 19 42 0 0 1 0 0 POLR3E 55718 broad.mit.edu 37 16 22337527 22337527 + Silent SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:22337527C>G ENST00000299853.5 + 18 1961 c.1794C>G c.(1792-1794)ctC>ctG p.L598L POLR3E_ENST00000359210.4_Silent_p.L598L|POLR3E_ENST00000564209.1_Silent_p.L598L|POLR3E_ENST00000418581.2_Silent_p.L562L NM_001258033.1|NM_001258035.1|NM_018119.3 NP_001244962.1|NP_001244964.1|NP_060589.1 Q9NVU0 RPC5_HUMAN polymerase (RNA) III (DNA directed) polypeptide E (80kD) 598 innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA-directed RNA polymerase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GBM - Glioblastoma multiforme(48;0.012) GCCACACACTCTTCAGCGGCA 0.617000 18 28 0 0 1 0 0 STT3B 201595 broad.mit.edu 37 3 31574504 31574504 + Nonsense_Mutation SNP C C A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:31574504C>A ENST00000295770.2 + 1 223 c.14C>A c.(13-15)tCg>tAg p.S5* STT3B_ENST00000453168.1_3'UTR NM_178862.1 NP_849193.1 Q8TCJ2 STT3B_HUMAN STT3B, subunit of the oligosaccharyltransferase complex (catalytic) 5 protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 19 GCGGAGCCCTCGGCCCCGGAG 0.746000 11 23 6.40141e-05 6.46479e-05 1 1 0 ZNF57 126295 broad.mit.edu 37 19 2917917 2917917 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:2917917C>T ENST00000306908.5 + 4 1446 c.1298C>T c.(1297-1299)tCa>tTa p.S433L AC006277.2_ENST00000520090.2_RNA|ZNF57_ENST00000523428.1_Missense_Mutation_p.S401L NM_173480.2 NP_775751.1 Q68EA5 ZNF57_HUMAN zinc finger protein 57 433 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 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)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18) ACTTGGTCCTCAACGTTTAGA 0.453000 25 66 0 0 1 0 0 TLR10 81793 broad.mit.edu 37 4 38776787 38776787 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr4:38776787G>A ENST00000308973.4 - 4 1030 c.425C>T c.(424-426)tCa>tTa p.S142L TLR10_ENST00000508334.1_Missense_Mutation_p.S142L|TLR10_ENST00000361424.2_Missense_Mutation_p.S142L|TLR10_ENST00000506111.1_Missense_Mutation_p.S142L NM_001017388.2|NM_001195107.1|NM_030956.3 NP_001017388.1|NP_001182036.1|NP_112218.2 Q9BXR5 TLR10_HUMAN toll-like receptor 10 142 inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane transmembrane receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2) 25 TTCCAGGTGTGACATGTTGCC 0.388000 23 35 0 0 1 0 0 MAP2K5 5607 broad.mit.edu 37 15 67950939 67950939 + Missense_Mutation SNP G G A rs139491783 TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr15:67950939G>A ENST00000178640.5 + 12 1412 c.785G>A c.(784-786)aGa>aAa p.R262K MAP2K5_ENST00000340972.4_Missense_Mutation_p.R72K|MAP2K5_ENST00000560591.1_3'UTR|MAP2K5_ENST00000395476.2_Missense_Mutation_p.R262K|MAP2K5_ENST00000354498.5_Missense_Mutation_p.R226K NM_145160.2 NP_660143.1 Q13163 MP2K5_HUMAN mitogen-activated protein kinase kinase 5 262 Protein kinase. nerve growth factor receptor signaling pathway ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1) 16 GTCCTTGGAAGAATTGCAGTA 0.348000 23 94 0 0 1 0 0 AIG1 51390 broad.mit.edu 37 6 143486312 143486312 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:143486312C>T ENST00000494282.2 + 3 416 c.391C>T c.(391-393)Cac>Tac p.H131Y AIG1_ENST00000344492.5_Missense_Mutation_p.H79Y|AIG1_ENST00000367598.5_Missense_Mutation_p.H131Y|AIG1_ENST00000275235.4_Missense_Mutation_p.H131Y|AIG1_ENST00000357847.4_Missense_Mutation_p.H131Y Q9NVV5 AIG1_HUMAN androgen-induced 1 131 integral to membrane endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(155;2.34e-05)|GBM - Glioblastoma multiforme(68;0.0246) GTGGCTGAATCACGGAATGGT 0.373000 38 68 0 0 1 0 0 ISY1-RAB43 100534599 broad.mit.edu 37 3 128813903 128813903 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:128813903G>A ENST00000418265.1 - 12 1021 c.961C>T c.(961-963)Cct>Tct p.P321S RAB43_ENST00000393308.1_Missense_Mutation_p.S105F|RAB43_ENST00000393304.1_Missense_Mutation_p.S105F|RAB43_ENST00000315150.5_Missense_Mutation_p.S105F|RAB43_ENST00000393305.1_Missense_Mutation_p.S105F|RAB43_ENST00000393307.1_Missense_Mutation_p.S105F|RAB43_ENST00000476465.1_Missense_Mutation_p.S105F NM_001204890.1 NP_001191819.1 Q9ULR0 ISY1_HUMAN 0 catalytic step 2 spliceosome CGACAGGAAGGAGCTCCTCTT 0.602000 28 50 0 0 1 0 0 ZMIZ1 57178 broad.mit.edu 37 10 81060560 81060560 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr10:81060560C>T ENST00000334512.5 + 17 2452 c.1880C>T c.(1879-1881)tCg>tTg p.S627L NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 627 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) TGGCCCGCCTCGGTGCAGGTC 0.647000 23 18 0 0 1 0 0 OR13C5 138799 broad.mit.edu 37 9 107360888 107360888 + Missense_Mutation SNP A A C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:107360888A>C ENST00000374779.2 - 1 900 c.807T>G c.(805-807)aaT>aaG p.N269K NM_001004482.1 NP_001004482.1 Q8NGS8 O13C5_HUMAN olfactory receptor, family 13, subfamily C, member 5 269 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4) 28 AGTCATCTGAATTAAGTGTCT 0.423000 29 62 0 0 1 0 0 GARNL3 84253 broad.mit.edu 37 9 130149473 130149473 + Splice_Site SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:130149473C>T ENST00000373387.4 + 25 2742 c.2390C>T c.(2389-2391)tCg>tTg p.S797L GARNL3_ENST00000314904.5_Intron|GARNL3_ENST00000435213.2_Splice_Site_p.S775L|GARNL3_ENST00000496711.1_3'UTR NM_032293.4 NP_115669.3 Q5VVW2 GARL3_HUMAN GTPase activating Rap/RanGAP domain-like 3 797 CNH. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity|small GTPase regulator activity NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2) 41 CCTTTCTAGTCGGATATATAC 0.572000 49 120 0 0 1 0 0 USP21 27005 broad.mit.edu 37 1 161134932 161134932 + Splice_Site SNP C C T rs36113679 TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:161134932C>T ENST00000368002.3 + 13 1983 c.1606C>T c.(1606-1608)Cgt>Tgt p.R536C USP21_ENST00000368001.1_Splice_Site_p.R522C|USP21_ENST00000493054.1_3'UTR|USP21_ENST00000289865.8_Splice_Site_p.R536C NM_001014443.2 NP_001014443.1 Q9UK80 UBP21_HUMAN ubiquitin specific peptidase 21 536 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process nucleus metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.R536C(1) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3) 29 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) CAATGACTCTCGGTGAGAATA 0.562000 7 25 0 0 1 0 0 PAK6 56924 broad.mit.edu 37 15 40565108 40565108 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr15:40565108G>A ENST00000455577.2 + 7 2310 c.1398G>A c.(1396-1398)gaG>gaA p.E466E PAK6_ENST00000560346.1_Silent_p.E466E|PAK6_ENST00000453867.1_Silent_p.E466E|PAK6_ENST00000441369.1_Silent_p.E466E|PAK6_ENST00000542403.2_Silent_p.E466E|PAK6_ENST00000260404.4_Silent_p.E466E|RP11-133K1.2_ENST00000558658.1_3'UTR NM_001276718.1 NP_001263647.1 Q9NQU5 PAK6_HUMAN p21 protein (Cdc42/Rac)-activated kinase 6 466 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2) 24 all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544) ACGTGGTGGAGATGTACAAGA 0.632000 59 63 0 0 1 0 0 ARRDC3 57561 broad.mit.edu 37 5 90674580 90674580 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr5:90674580G>A ENST00000265138.3 - 2 559 c.293C>T c.(292-294)tCc>tTc p.S98F ARRDC3_ENST00000503192.1_5'UTR NM_020801.2 NP_065852.1 Q96B67 ARRD3_HUMAN arrestin domain containing 3 98 signal transduction cytoplasm protein binding breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 18 all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207) OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22) GCCTTCTTCGGAATTATCATC 0.323000 12 16 0 0 1 0 0 SLC22A25 387601 broad.mit.edu 37 11 62984949 62984949 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:62984949C>G ENST00000403374.2 - 5 472 c.169G>C c.(169-171)Gag>Cag p.E57Q SLC22A10_ENST00000525620.1_Intron|SLC22A25_ENST00000306494.6_Missense_Mutation_p.E223Q|SLC22A10_ENST00000535888.1_Intron Q6T423 S22AP_HUMAN solute carrier family 22, member 25 223 transmembrane transport integral to membrane NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7) 34 GTTATCCACTCTACAACTGAA 0.403000 17 24 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2742833 2742833 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr12:2742833C>T ENST00000406454.3 + 30 3867 c.3867C>T c.(3865-3867)ctC>ctT p.L1289L CACNA1C_ENST00000399617.1_Silent_p.L1289L|CACNA1C_ENST00000344100.3_Intron|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000399597.1_Silent_p.L1289L|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000399638.1_Silent_p.L1289L|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000399644.1_Silent_p.L1289L|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000399629.1_Silent_p.L1289L|CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000347598.4_Silent_p.L1309L|CACNA1C_ENST00000399603.1_Silent_p.L1289L|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000402845.3_Silent_p.L1289L|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399655.1_Intron Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 1309 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) TTGACTTCCTCATCGTAATTG 0.453000 26 69 0 0 1 0 0 OMA1 115209 broad.mit.edu 37 1 59004653 59004653 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:59004653G>A ENST00000371226.3 - 2 427 c.314C>T c.(313-315)tCa>tTa p.S105L DAB1_ENST00000485760.1_Intron|OMA1_ENST00000467063.1_Intron|OMA1_ENST00000358603.2_Missense_Mutation_p.S105L NM_145243.3 NP_660286.1 Q96E52 OMA1_HUMAN OMA1 zinc metallopeptidase 105 proteolysis integral to membrane|mitochondrial membrane metal ion binding|metalloendopeptidase activity NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1) 18 all_cancers(7;6.54e-05) CAGCTGTCTTGAAAAAGCATC 0.388000 36 47 0 0 1 0 0 NCOR1 9611 broad.mit.edu 37 17 16005027 16005027 + Missense_Mutation SNP A A C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:16005027A>C ENST00000268712.3 - 20 2484 c.2227T>G c.(2227-2229)Tct>Gct p.S743A NCOR1_ENST00000395851.1_Missense_Mutation_p.S759A|NCOR1_ENST00000395848.1_Missense_Mutation_p.S650A NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 743 cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) TTTCCTCGAGAAGTAGCATTT 0.488000 6 50 0 0 1 0 0 ALKBH1 8846 broad.mit.edu 37 14 78174278 78174278 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr14:78174278G>A ENST00000216489.3 - 1 85 c.70C>T c.(70-72)Cgg>Tgg p.R24W NM_006020.2 NP_006011.2 Q13686 ALKB1_HUMAN alkB, alkylation repair homolog 1 (E. coli) 24 DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair mitochondrion DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 9 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0291) AAAAGTTTCCGAAAGGCGTCC 0.667000 31 74 0 0 1 0 0 RANBP1 5902 broad.mit.edu 37 22 20106566 20106566 + Nonsense_Mutation SNP G G T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr22:20106566G>T ENST00000402752.1 + 2 272 c.46G>T c.(46-48)Gag>Tag p.E16* RANBP1_ENST00000467920.1_3'UTR|RANBP1_ENST00000430524.1_5'UTR|RANBP1_ENST00000331821.3_Nonsense_Mutation_p.E16* NM_001278640.1 NP_001265569.1 P43487 RANG_HUMAN RAN binding protein 1 16 E -> D (in a breast cancer sample; somatic mutation). intracellular transport|signal transduction|viral reproduction nuclear envelope GDP-dissociation inhibitor activity|GTPase activator activity|Ran GTPase binding breast(1)|large_intestine(1)|lung(1)|ovary(1) 4 Colorectal(54;0.0993) TACTTCCACTGAGAATACAGA 0.463000 22 43 3.8784e-16 4.01622e-16 1 1 0 FAM111A 63901 broad.mit.edu 37 11 58919502 58919502 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:58919502C>T ENST00000528737.1 + 5 3179 c.361C>T c.(361-363)Cac>Tac p.H121Y FAM111A_ENST00000531147.1_Missense_Mutation_p.H121Y|FAM111A_ENST00000420244.1_Missense_Mutation_p.H121Y|FAM111A_ENST00000533703.1_Missense_Mutation_p.H121Y|FAM111A_ENST00000361723.3_Missense_Mutation_p.H121Y Q96PZ2 F111A_HUMAN family with sequence similarity 111, member A 121 proteolysis serine-type endopeptidase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_epithelial(135;0.139) GATAGAAACTCACCAAGGCCA 0.443000 16 41 0 0 1 0 0 PTPN9 5780 broad.mit.edu 37 15 75809629 75809629 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr15:75809629G>A ENST00000306726.2 - 5 1011 c.499C>T c.(499-501)Ctt>Ttt p.L167F NM_002833.2 NP_002824.1 P43378 PTN9_HUMAN protein tyrosine phosphatase, non-receptor type 9 167 CRAL-TRIO. cytoplasmic part non-membrane spanning protein tyrosine phosphatase activity|protein binding central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TTCTTGCCAAGATCCAGCTCA 0.388000 15 27 0 0 1 0 0 ZC3H13 23091 broad.mit.edu 37 13 46559534 46559534 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr13:46559534G>A ENST00000242848.4 - 10 1966 c.1618C>T c.(1618-1620)Cgt>Tgt p.R540C ZC3H13_ENST00000282007.3_Missense_Mutation_p.R540C Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 540 Arg/Ser-rich. nucleic acid binding|zinc ion binding cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) ATTTCCGTACGAGAACTTTCT 0.458000 41 40 0 0 1 0 0 FAM98C 147965 broad.mit.edu 37 19 38895578 38895578 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:38895578G>A ENST00000252530.5 + 4 399 c.380G>A c.(379-381)cGc>cAc p.R127H FAM98C_ENST00000585954.1_3'UTR|FAM98C_ENST00000343358.7_Missense_Mutation_p.R127H|FAM98C_ENST00000588262.1_Intron NM_174905.3 NP_777565.3 Q17RN3 FA98C_HUMAN family with sequence similarity 98, member C 127 endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(60;3.95e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) CAAGCCACCCGCCTCCTGTGC 0.577000 126 312 0 0 1 0 0 TAS1R1 80835 broad.mit.edu 37 1 6639059 6639059 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:6639059C>T ENST00000333172.6 + 6 2134 c.1941C>T c.(1939-1941)tcC>tcT p.S647S TAS1R1_ENST00000328191.4_3'UTR|TAS1R1_ENST00000351136.3_Silent_p.S393S NM_138697.3 NP_619642.2 Q7RTX1 TS1R1_HUMAN taste receptor, type 1, member 1 647 sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2) 29 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) TCTTCCTGTCCTGCCTGACAG 0.542000 25 75 0 0 1 0 0 C10orf12 26148 broad.mit.edu 37 10 98744270 98744270 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr10:98744270C>T ENST00000286067.2 + 1 3230 c.3123C>T c.(3121-3123)atC>atT p.I1041I NM_015652.2 NP_056467.2 Q8N655 CJ012_HUMAN chromosome 10 open reading frame 12 1041 NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4) 45 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) GCGTATGCATCAACCCTCTGA 0.498000 44 46 0 0 1 0 0 CRYBA4 1413 broad.mit.edu 37 22 27021530 27021530 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr22:27021530G>A ENST00000354760.3 + 4 279 c.244G>A c.(244-246)Ggc>Agc p.G82S CRYBA4_ENST00000466315.1_3'UTR NM_001886.2 NP_001877.1 P53673 CRBA4_HUMAN crystallin, beta A4 82 Beta/gamma crystallin 'Greek key' 2. camera-type eye development|visual perception soluble fraction structural constituent of eye lens large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2) 18 TGCCTGGGGCGGCAACACGGC 0.637000 29 182 0 0 1 0 0 CNOT2 4848 broad.mit.edu 37 12 70704766 70704766 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr12:70704766C>T ENST00000229195.3 + 3 719 c.140C>T c.(139-141)tCt>tTt p.S47F CNOT2_ENST00000418359.3_Missense_Mutation_p.S47F NM_014515.5 NP_055330.1 Q9NZN8 CNOT2_HUMAN CCR4-NOT transcription complex, subunit 2 47 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter cytosol|nucleus protein binding|RNA polymerase II transcription cofactor activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1) 20 Renal(347;0.236) GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118) TACAGCCAGTCTTCTATGTTT 0.388000 16 45 0 0 1 0 0 GPIHBP1 338328 broad.mit.edu 37 8 144295145 144295145 + Translation_Start_Site SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr8:144295145G>A ENST00000330824.2 + 1 78 c.3G>A c.(1-3)atG>atA p.M1I NM_178172.3 NP_835466.1 Q8IV16 HDBP1_HUMAN glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 1 cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity lung(2) 2 all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) CCGGCGAGATGAAGGCGCTCG 0.662000 9 12 0 0 1 0 0 HARS2 23438 broad.mit.edu 37 5 140076763 140076763 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr5:140076763C>T ENST00000230771.3 + 10 1192 c.969C>T c.(967-969)ctC>ctT p.L323L HARS2_ENST00000435019.2_Silent_p.L283L|HARS2_ENST00000437649.2_Silent_p.L249L|HARS2_ENST00000508522.1_Silent_p.L298L|HARS2_ENST00000432671.2_Silent_p.L209L|HARS2_ENST00000448069.2_Silent_p.L151L NM_012208.2 NP_036340.1 P49590 SYHM_HUMAN histidyl-tRNA synthetase 2, mitochondrial 323 histidyl-tRNA aminoacylation mitochondrial matrix ATP binding|histidine-tRNA ligase activity NS(1)|endometrium(3)|large_intestine(5)|lung(10) 19 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTTTGACCTCAGCCTGGCTC 0.557000 57 79 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120580708 120580708 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr12:120580708G>A ENST00000300648.6 - 43 5545 c.5533C>T c.(5533-5535)Cac>Tac p.H1845Y NM_006836.1 NP_006827 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 1845 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CCTGAGATGTGAAACAGGAGA 0.532000 39 80 0 0 1 0 0 TSHZ2 128553 broad.mit.edu 37 20 51870545 51870545 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr20:51870545C>T ENST00000371497.5 + 2 1435 c.548C>T c.(547-549)tCt>tTt p.S183F TSHZ2_ENST00000603338.2_Missense_Mutation_p.S180F|TSHZ2_ENST00000329613.6_Missense_Mutation_p.S180F NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 183 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) AACTTGCCTTCTCGGTCCGTC 0.552000 41 57 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30750002 30750002 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:30750002C>T ENST00000262518.4 + 34 9026 c.8641C>T c.(8641-8643)Ccc>Tcc p.P2881S SRCAP_ENST00000395059.2_Missense_Mutation_p.P2819S|SRCAP_ENST00000344771.4_Missense_Mutation_p.P2723S NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 2881 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) GGATGAGGCACCCTCATCCAC 0.582000 28 36 0 0 1 0 0 PCNP 57092 broad.mit.edu 37 3 101311591 101311591 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:101311591C>T ENST00000265260.3 + 5 652 c.531C>T c.(529-531)gaC>gaT p.D177D PCNP_ENST00000296024.5_3'UTR|PCNP_ENST00000486406.1_3'UTR|PCNP_ENST00000469941.1_Silent_p.D54D NM_020357.1 NP_065090.1 Q8WW12 PCNP_HUMAN PEST proteolytic signal containing nuclear protein 177 cell cycle|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination nucleus protein binding large_intestine(1)|lung(1) 2 ATGACCAAGACAATTAAATGA 0.383000 23 40 0 0 1 0 0 MRPL10 124995 broad.mit.edu 37 17 45904544 45904544 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:45904544G>A ENST00000290208.7 - 3 731 c.279C>T c.(277-279)cgC>cgT p.R93R MRPL10_ENST00000414011.1_Silent_p.R93R|MRPL10_ENST00000351111.2_Silent_p.R83R Q7Z7H8 RM10_HUMAN mitochondrial ribosomal protein L10 83 ribosome biogenesis|translation mitochondrial large ribosomal subunit structural constituent of ribosome endometrium(3)|large_intestine(1)|lung(3)|ovary(1) 8 CTATCTCCCGGCGGAGAAGCC 0.542000 35 53 0 0 1 0 0 KIDINS220 57498 broad.mit.edu 37 2 8919253 8919253 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:8919253G>A ENST00000256707.3 - 19 2568 c.2387C>T c.(2386-2388)tCa>tTa p.S796L KIDINS220_ENST00000427284.1_Missense_Mutation_p.S796L|KIDINS220_ENST00000418530.1_Missense_Mutation_p.S754L|KIDINS220_ENST00000319688.5_Missense_Mutation_p.S797L|KIDINS220_ENST00000473731.1_Missense_Mutation_p.S796L NM_020738.2 NP_065789.1 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate, 220kDa 796 KAP NTPase. activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 60 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) CGGGCCTTTTGAAAACAGAAC 0.363000 67 69 0 0 1 0 0 POLR2A 5430 broad.mit.edu 37 17 7401070 7401070 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:7401070C>T ENST00000322644.6 + 7 1482 c.1083C>T c.(1081-1083)ttC>ttT p.F361F POLR2A_ENST00000572844.1_Silent_p.F361F NM_000937.4 NP_000928 P24928 RPB1_HUMAN polymerase (RNA) II (DNA directed) polypeptide A, 220kDa 361 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 50 Prostate(122;0.173) GAGTGGACTTCTCGGCCCGTA 0.602000 50 42 0 0 1 0 0 TNIP2 79155 broad.mit.edu 37 4 2746179 2746179 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr4:2746179G>C ENST00000510267.1 - 5 1067 c.640C>G c.(640-642)Caa>Gaa p.Q214E TNIP2_ENST00000505186.1_5'UTR|TNIP2_ENST00000315423.7_Missense_Mutation_p.Q321E|TNIP2_ENST00000503235.1_Missense_Mutation_p.Q238E NM_001161527.1 NP_001154999.1 Q8NFZ5 TNIP2_HUMAN TNFAIP3 interacting protein 2 321 cytosol protein binding breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) ATCCTACTTTGAGCCCGTTCC 0.507000 40 69 0 0 1 0 0 TMEM56 148534 broad.mit.edu 37 1 95657358 95657358 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:95657358C>G ENST00000370203.4 + 7 1017 c.726C>G c.(724-726)atC>atG p.I242M RP11-57H12.3_ENST00000419846.1_RNA|RP11-57H12.3_ENST00000421762.1_RNA|RP11-57H12.6_ENST00000604534.1_Intron NM_001199679.1|NM_152487.2 NP_001186608.1|NP_689700.1 Q96MV1 TMM56_HUMAN transmembrane protein 56 242 TLC. integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1) 12 all_lung(203;0.0232)|Lung NSC(277;0.0739) all cancers(265;0.133) AAGGTTGCATCAAAGTCATCT 0.358000 11 45 0 0 1 0 0 CPSF4 10898 broad.mit.edu 37 7 99051739 99051739 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr7:99051739G>A ENST00000436336.2 + 7 807 c.646G>A c.(646-648)Gag>Aag p.E216K PTCD1_ENST00000555673.1_Intron|CPSF4_ENST00000292476.5_Missense_Mutation_p.E241K|ATP5J2-PTCD1_ENST00000437572.1_Intron|CPSF4_ENST00000441580.1_Missense_Mutation_p.E163K|ATP5J2_ENST00000466753.1_Intron|CPSF4_ENST00000451876.1_Missense_Mutation_p.E183K|ATP5J2-PTCD1_ENST00000413834.1_Intron NM_001081559.1|NM_006693.2 NP_001075028.1|NP_006684.1 O95639 CPSF4_HUMAN cleavage and polyadenylation specific factor 4, 30kDa 241 modification by virus of host mRNA processing|mRNA processing|viral infectious cycle mRNA cleavage and polyadenylation specificity factor complex RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5) 14 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) CCGGCCACTGGAGCAGGTCAC 0.612000 12 88 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61537196 61537196 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr20:61537196G>A ENST00000370371.4 - 6 1986 c.1631C>T c.(1630-1632)tCt>tTt p.S544F DIDO1_ENST00000395343.1_Intron|DIDO1_ENST00000395340.1_Intron|DIDO1_ENST00000370366.1_Intron|DIDO1_ENST00000266071.5_Intron|DIDO1_ENST00000266070.4_Intron|DIDO1_ENST00000354665.4_Missense_Mutation_p.S544F|DIDO1_ENST00000395335.2_Intron|DIDO1_ENST00000370368.1_Missense_Mutation_p.S544F NM_022105.4 NP_071388.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 0 M -> T (in dbSNP:rs1883848). apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) TATCCAGAAAGAACGGGAGGG 0.542000 70 102 0 0 1 0 0 SUGP2 10147 broad.mit.edu 37 19 19106033 19106033 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:19106033G>A ENST00000601879.1 - 9 3345 c.3048C>T c.(3046-3048)ttC>ttT p.F1016F SUGP2_ENST00000452918.2_Silent_p.F1016F|SUGP2_ENST00000337018.6_Silent_p.F1016F|SUGP2_ENST00000600377.1_Silent_p.F1030F|SUGP2_ENST00000456085.2_Silent_p.F785F Q8IX01 SUGP2_HUMAN SURP and G patch domain containing 2 1016 G-patch. mRNA processing|RNA splicing nucleus RNA binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 GCAGCATCTGGAAGCCCAGGT 0.617000 15 30 0 0 1 0 0 PHB2 11331 broad.mit.edu 37 12 7076865 7076865 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr12:7076865C>T ENST00000535923.1 - 6 966 c.685G>A c.(685-687)Gag>Aag p.E229K PHB2_ENST00000542912.1_Missense_Mutation_p.E229K|PHB2_ENST00000440277.1_Intron|PHB2_ENST00000546111.1_Intron|PHB2_ENST00000399433.2_Missense_Mutation_p.E229K NM_001144831.1 NP_001138303.1 Q99623 PHB2_HUMAN prohibitin 2 229 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial inner membrane|nucleus estrogen receptor binding|receptor activity ovary(2)|pancreas(1) 3 GCCTCACCCTCGGCCTGCACA 0.592000 79 129 0 0 1 0 0 RALGAPB 57148 broad.mit.edu 37 20 37174926 37174926 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr20:37174926C>T ENST00000262879.6 + 19 3039 c.2755C>T c.(2755-2757)Cct>Tct p.P919S RALGAPB_ENST00000397038.1_Missense_Mutation_p.P697S|RALGAPB_ENST00000397040.1_Missense_Mutation_p.P919S|RALGAPB_ENST00000397042.3_Missense_Mutation_p.P915S Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 919 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 ACCTAGTGGTCCTGCCTCTCC 0.413000 40 61 0 0 1 0 0 SLC44A2 57153 broad.mit.edu 37 19 10742593 10742593 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:10742593G>A ENST00000586078.1 + 9 785 c.676G>A c.(676-678)Gaa>Aaa p.E226K SLC44A2_ENST00000335757.5_Missense_Mutation_p.E226K|SLC44A2_ENST00000407327.4_Missense_Mutation_p.E224K NM_020428.3 NP_065161.3 Q8IWA5 CTL2_HUMAN solute carrier family 44 (choline transporter), member 2 226 positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane|plasma membrane choline transmembrane transporter activity|signal transducer activity NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Epithelial(33;8.7e-06)|all cancers(31;2.77e-05) Choline(DB00122) GCGCATATTTGAAGATTACAC 0.577000 28 66 0 0 1 0 0 LRP6 4040 broad.mit.edu 37 12 12318083 12318083 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr12:12318083C>T ENST00000261349.4 - 8 1768 c.1692G>A c.(1690-1692)gaG>gaA p.E564E LRP6_ENST00000543091.1_Silent_p.E564E NM_002336.2 NP_002327.2 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 6 564 Beta-propeller 2. cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) TCACTTCCCTCTCTGCACTTC 0.423000 52 100 0 0 1 0 0 MFAP3 4238 broad.mit.edu 37 5 153429502 153429502 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr5:153429502C>T ENST00000436816.1 + 2 439 c.220C>T c.(220-222)Ctt>Ttt p.L74F MFAP3_ENST00000322602.5_Missense_Mutation_p.L74F|MFAP3_ENST00000439768.2_Intron NM_001242336.1|NM_005927.4 NP_001229265.1|NP_005918.1 P55082 MFAP3_HUMAN microfibrillar-associated protein 3 74 Ig-like C2-type. integral to membrane|plasma membrane breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1) 7 Renal(175;0.00488) Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201) AATTGAGTGTCTTCTCACAGC 0.443000 27 54 0 0 1 0 0 ARF6 382 broad.mit.edu 37 14 50360571 50360571 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr14:50360571G>A ENST00000298316.5 + 2 664 c.117G>A c.(115-117)gtG>gtA p.V39V NM_001663.3 NP_001654.1 P62330 ARF6_HUMAN ADP-ribosylation factor 6 39 cell adhesion|cellular component movement|cortical actin cytoskeleton organization|negative regulation of receptor-mediated endocytosis|positive regulation of actin filament polymerization|positive regulation of establishment of protein localization in plasma membrane|protein localization at cell surface|protein transport|regulation of dendritic spine development|regulation of filopodium assembly|regulation of Rac protein signal transduction|ruffle organization|small GTPase mediated signal transduction|vesicle-mediated transport cell cortex|endosome membrane|filopodium membrane|Golgi apparatus|membrane fraction|ruffle GTP binding|GTPase activity|thioesterase binding endometrium(1)|kidney(1)|large_intestine(1)|ovary(1) 4 all_epithelial(31;0.000822)|Breast(41;0.0117) GCCAGTCGGTGACCACCATTC 0.547000 19 65 0 0 1 0 0 EIF5 1983 broad.mit.edu 37 14 103804699 103804699 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr14:103804699G>C ENST00000216554.3 + 7 1151 c.475G>C c.(475-477)Gaa>Caa p.E159Q EIF5_ENST00000392715.2_Missense_Mutation_p.E159Q|EIF5_ENST00000558506.1_Missense_Mutation_p.E159Q NM_001969.4 NP_001960.2 P55010 IF5_HUMAN eukaryotic translation initiation factor 5 159 regulation of translational initiation|RNA metabolic process cytosol GTP binding|GTPase activity|translation initiation factor activity breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1) 18 Melanoma(154;0.155) Epithelial(46;0.182) gaaagaaaaagaaaagaaaaa 0.393000 18 41 0 0 1 0 0 CLTC 1213 broad.mit.edu 37 17 57763020 57763020 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:57763020G>A ENST00000269122.3 + 30 4952 c.4678G>A c.(4678-4680)Gaa>Aaa p.E1560K CLTC_ENST00000393043.1_Missense_Mutation_p.E1560K|CLTC_ENST00000579456.1_Missense_Mutation_p.E497K NM_004859.3 NP_004850.1 Q00610 CLH1_HUMAN clathrin, heavy chain (Hc) 1560 Heavy chain arm.|Proximal segment.|Trimerization (By similarity). axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle protein binding|structural molecule activity CLTC/ALK(44)|CLTC/TFE3(2) breast(2)|large_intestine(6)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) GTTTTTGCAGGAAGAAAAAAG 0.398000 T """ALK, TFE3""" """ALCL, renal """ 5 134 0 0 1 0 0 ZFP36L1 677 broad.mit.edu 37 14 69257116 69257116 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr14:69257116G>A ENST00000439696.2 - 2 452 c.151C>T c.(151-153)Cgg>Tgg p.R51W ZFP36L1_ENST00000336440.3_Missense_Mutation_p.R51W|ZFP36L1_ENST00000555997.1_3'UTR NM_001244701.1|NM_004926.3 NP_001231630.1|NP_004917.2 Q07352 TISB_HUMAN ZFP36 ring finger protein-like 1 51 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1) 21 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) GAGTGCCTCCGAGGGAAGCCC 0.627000 OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 30 0 0 1 0 0 GPRASP1 9737 broad.mit.edu 37 X 101912102 101912102 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chrX:101912102G>A ENST00000537097.1 + 6 4074 c.3261G>A c.(3259-3261)agG>agA p.R1087R GPRASP1_ENST00000415986.1_Silent_p.R1087R|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Silent_p.R1087R|GPRASP1_ENST00000444152.1_Silent_p.R1087R NM_001184727.1 NP_001171656.1 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting protein 1 1087 OPRD1-binding. 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 GCAAACCCAGGAACATGGTAC 0.488000 97 46 0 0 1 0 0 ZNF836 162962 broad.mit.edu 37 19 52659358 52659358 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:52659358G>A ENST00000322146.8 - 5 2099 c.1578C>T c.(1576-1578)taC>taT p.Y526Y ZNF836_ENST00000597252.1_Silent_p.Y526Y|CTC-471J1.8_ENST00000594362.1_RNA NM_001102657.1 NP_001096127.1 Q6ZNA1 ZN836_HUMAN zinc finger protein 836 526 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 CACCGCATTGGTAACGTTTCT 0.378000 60 62 0 0 1 0 0 SLFNL1 200172 broad.mit.edu 37 1 41481832 41481832 + Silent SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:41481832G>C ENST00000359345.1 - 4 3746 c.1170C>G c.(1168-1170)ctC>ctG p.L390L SLFNL1_ENST00000372611.1_Silent_p.L331L|SLFNL1_ENST00000397197.2_Silent_p.L342L|SLFNL1_ENST00000372613.2_Silent_p.L342L|SLFNL1_ENST00000439569.2_Silent_p.L390L|SLFNL1_ENST00000302946.8_Silent_p.L390L NM_144990.3 NP_659427.3 Q499Z3 SLNL1_HUMAN schlafen-like 1 390 ATP binding endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0393) GCTGCTGCTGGAGCTGCTCCT 0.627000 4 131 0 0 1 0 0 MIER1 57708 broad.mit.edu 37 1 67442291 67442291 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:67442291C>T ENST00000357692.2 + 13 1264 c.1007C>T c.(1006-1008)tCa>tTa p.S336L MIER1_ENST00000401041.1_Missense_Mutation_p.S372L|MIER1_ENST00000401042.3_Missense_Mutation_p.S319L|MIER1_ENST00000371016.1_Missense_Mutation_p.S336L|MIER1_ENST00000355977.6_Missense_Mutation_p.S256L|MIER1_ENST00000371018.3_Missense_Mutation_p.S336L|MIER1_ENST00000371014.1_Missense_Mutation_p.S372L|MIER1_ENST00000355356.3_Missense_Mutation_p.S319L NM_001146110.1 NP_001139582.1 Q8N108 MIER1_HUMAN mesoderm induction early response 1, transcriptional regulator 343 SANT. positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3) 15 CGAACAAGGTCAGTTGGTGAA 0.313000 11 38 0 0 1 0 0 CPSF1 29894 broad.mit.edu 37 8 145621950 145621950 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr8:145621950G>A ENST00000349769.3 - 25 2783 c.2689C>T c.(2689-2691)Cac>Tac p.H897Y NM_013291.2 NP_037423.2 Q10570 CPSF1_HUMAN cleavage and polyadenylation specific factor 1, 160kDa 897 mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex mRNA 3'-UTR binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 all_cancers(97;6.64e-12)|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;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) TTGATGTTGTGAGGGACCTGG 0.657000 56 113 0 0 1 0 0 MEI1 150365 broad.mit.edu 37 22 42180660 42180660 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr22:42180660C>G ENST00000401548.3 + 26 3258 c.3218C>G c.(3217-3219)tCt>tGt p.S1073C MEI1_ENST00000300398.4_Missense_Mutation_p.S81C|MEI1_ENST00000400107.1_Missense_Mutation_p.S406C|MEI1_ENST00000476893.1_3'UTR NM_152513.3 NP_689726.3 Q5TIA1 MEI1_HUMAN meiosis inhibitor 1 1073 binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 AGCTTTTCCTCTGCCCTGGTA 0.602000 13 34 0 0 1 0 0 C5orf42 65250 broad.mit.edu 37 5 37169002 37169002 + Missense_Mutation SNP G G T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr5:37169002G>T ENST00000274258.7 - 34 7351 c.3764C>A c.(3763-3765)aCc>aAc p.T1255N C5orf42_ENST00000508244.1_Missense_Mutation_p.T2375N|C5orf42_ENST00000425232.2_Missense_Mutation_p.T2375N E9PH94 E9PH94_HUMAN chromosome 5 open reading frame 42 2375 breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) TGCTCTTGAGGTTGATGGAAA 0.408000 16 121 2.32078e-09 2.37568e-09 1 1 0 OR12D3 81797 broad.mit.edu 37 6 29342573 29342573 + Silent SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:29342573C>G ENST00000396806.3 - 1 495 c.492G>C c.(490-492)ctG>ctC p.L164L OR5V1_ENST00000377154.1_Intron NM_030959.2 NP_112221.1 Q9UGF7 O12D3_HUMAN olfactory receptor, family 12, subfamily D, member 3 164 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3) 23 CACAAAAACTCAGGTGTGCAG 0.468000 21 46 0 0 1 0 0 ZC3H4 23211 broad.mit.edu 37 19 47597284 47597284 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:47597284G>A ENST00000253048.5 - 4 472 c.435C>T c.(433-435)ttC>ttT p.F145F ZC3H4_ENST00000594019.1_5'UTR NM_015168.1 NP_055983.1 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 145 nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) CACTGGGGCTGAAATCCGAGT 0.577000 40 95 0 0 1 0 0 RAF1 5894 broad.mit.edu 37 3 12633230 12633230 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:12633230G>A ENST00000251849.4 - 11 1609 c.1170C>T c.(1168-1170)ttC>ttT p.F390F RAF1_ENST00000542177.1_Silent_p.F309F|RAF1_ENST00000442415.2_Silent_p.F410F|RAF1_ENST00000534997.1_Silent_p.F175F NM_002880.3 NP_002871.1 P04049 RAF1_HUMAN v-raf-1 murine leukemia viral oncogene homolog 1 390 Protein kinase. activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission cytosol|mitochondrial outer membrane|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6) biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 32 Sorafenib(DB00398) CCTCATTCCTGAAGGCCTGGA 0.512000 T SRGAP3 pilocytic astrocytoma Noonan syndrome 25 42 0 0 1 0 0 FAM83H 286077 broad.mit.edu 37 8 144808914 144808914 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr8:144808914G>A ENST00000388913.3 - 5 2842 c.2717C>T c.(2716-2718)tCa>tTa p.S906L NM_198488.3 NP_940890 Q6ZRV2 FA83H_HUMAN family with sequence similarity 83, member H 906 biomineral tissue development central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1) 21 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) GGGGTAGGCTGAGGTGGGGCT 0.677000 14 26 0 0 1 0 0 ZNF524 147807 broad.mit.edu 37 19 56113777 56113777 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:56113777C>T ENST00000591046.1 + 1 533 c.299C>T c.(298-300)tCa>tTa p.S100L ZNF524_ENST00000301073.3_Missense_Mutation_p.S100L Q96C55 ZN524_HUMAN zinc finger protein 524 100 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|large_intestine(2)|lung(6)|prostate(1) 10 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.105) TCTGAAGGTTCAGCGGCTGGG 0.672000 10 6 0 0 1 0 0 NLRP7 199713 broad.mit.edu 37 19 55450518 55450518 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:55450518G>A ENST00000588756.1 - 6 2155 c.1669C>T c.(1669-1671)Ctt>Ttt p.L557F NLRP7_ENST00000448121.2_Missense_Mutation_p.L557F|NLRP7_ENST00000328092.5_Missense_Mutation_p.L557F|NLRP7_ENST00000590030.1_Missense_Mutation_p.L557F|NLRP7_ENST00000446217.1_Missense_Mutation_p.L585F|NLRP7_ENST00000592784.1_Missense_Mutation_p.L557F|NLRP7_ENST00000340844.2_Missense_Mutation_p.L557F Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 557 ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) TTTGCATGAAGATGTGCTTTG 0.562000 31 80 0 0 1 0 0 RPF1 80135 broad.mit.edu 37 1 84961961 84961961 + Nonsense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:84961961C>T ENST00000370654.5 + 8 931 c.916C>T c.(916-918)Cag>Tag p.Q306* NM_025065.6 NP_079341.2 Q9H9Y2 RPF1_HUMAN ribosome production factor 1 homolog (S. cerevisiae) 306 Brix.|RNA-binding (By similarity). rRNA processing|translation nucleolus aminoacyl-tRNA ligase activity|ATP binding|rRNA binding breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1) 14 AGTGGGAATTCAGGAACTTGG 0.348000 8 23 0 0 1 0 0 ZZEF1 23140 broad.mit.edu 37 17 4012970 4012970 + Silent SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:4012970G>C ENST00000381638.2 - 6 1378 c.1254C>G c.(1252-1254)gtC>gtG p.V418V ZZEF1_ENST00000574474.1_5'UTR NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 418 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 GCACTGTCTGGACAAAGGCGG 0.493000 29 19 0 0 1 0 0 KHDRBS2 202559 broad.mit.edu 37 6 62604697 62604697 + Missense_Mutation SNP C C T rs144346146 byFrequency TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:62604697C>T ENST00000281156.4 - 6 931 c.653G>A c.(652-654)cGa>cAa p.R218Q NM_152688.2 NP_689901.2 Q5VWX1 KHDR2_HUMAN KH domain containing, RNA binding, signal transduction associated 2 218 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 BRCA - Breast invasive adenocarcinoma(397;0.149) GAGAACACCTCGTCCAGGTGG 0.592000 14 31 0 0 1 0 0 YIPF2 78992 broad.mit.edu 37 19 11034231 11034231 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:11034231C>T ENST00000586748.1 - 8 946 c.774G>A c.(772-774)gtG>gtA p.V258V YIPF2_ENST00000253031.2_Silent_p.V258V|YIPF2_ENST00000590329.1_Silent_p.V219V Q9BWQ6 YIPF2_HUMAN Yip1 domain family, member 2 258 integral to membrane|transport vesicle cervix(1)|endometrium(1)|lung(3)|ovary(2) 7 GCACTGTGGCCACCAGCCTGG 0.692000 24 57 0 0 1 0 0 CASP8 841 broad.mit.edu 37 2 202141606 202141606 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:202141606C>G ENST00000358485.4 + 7 1090 c.894C>G c.(892-894)atC>atG p.I298M CASP8_ENST00000392259.2_Missense_Mutation_p.Q218E|CASP8_ENST00000264275.5_Missense_Mutation_p.I256M|CASP8_ENST00000392258.3_Missense_Mutation_p.Q218E|CASP8_ENST00000432109.2_Missense_Mutation_p.I239M|CASP8_ENST00000264274.9_Intron|CASP8_ENST00000323492.7_Missense_Mutation_p.I224M|CASP8_ENST00000392266.3_Missense_Mutation_p.Q203E NM_001080125.1 NP_001073594.1 Q14790 CASP8_HUMAN caspase 8, apoptosis-related cysteine peptidase 239 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 GTCTGATCATCAACAATCACA 0.448000 HNSCC(4;0.00038) 17 22 0 0 1 0 0 SEMA4B 10509 broad.mit.edu 37 15 90760693 90760693 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr15:90760693C>T ENST00000411539.2 + 2 440 c.180C>T c.(178-180)ctC>ctT p.L60L SEMA4B_ENST00000332496.6_Silent_p.L60L|SEMA4B_ENST00000379122.3_Silent_p.L55L NM_198925.2 NP_945119.1 sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1) 12 Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272) BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217) GGCCATTCCTCAGATTCGAAG 0.562000 16 10 0 0 1 0 0 IP6K2 51447 broad.mit.edu 37 3 48732415 48732415 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:48732415G>A ENST00000431721.2 - 3 712 c.475C>T c.(475-477)Ctg>Ttg p.L159L IP6K2_ENST00000417896.1_Silent_p.L104L|IP6K2_ENST00000432678.2_Intron|IP6K2_ENST00000446860.1_Silent_p.L162L|IP6K2_ENST00000449610.1_Silent_p.L104L|IP6K2_ENST00000340879.4_Intron|IP6K2_ENST00000413298.1_Intron|IP6K2_ENST00000450045.1_Intron|IP6K2_ENST00000328631.5_Intron|IP6K2_ENST00000436134.1_Intron|IP6K2_ENST00000453202.1_Silent_p.L104L|IP6K2_ENST00000443964.1_Silent_p.L163L NM_001190316.1 NP_001177245.1 Q9UHH9 IP6K2_HUMAN inositol hexakisphosphate kinase 2 0 negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway intermediate filament cytoskeleton|nucleus ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 15 gGAAAGCACAGAGTGGGAGGG 0.592000 7 10 0 0 1 0 0 PALM 5064 broad.mit.edu 37 19 726158 726158 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:726158C>T ENST00000264560.7 + 2 220 c.26C>T c.(25-27)aCg>aTg p.T9M PALM_ENST00000338448.5_Missense_Mutation_p.T9M NM_001040134.1 NP_001035224.1 O75781 PALM_HUMAN paralemmin 9 cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_epithelial(18;2.19e-21)|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)|Lung(535;0.201) GCAGAGACCACGTCCCAGCAG 0.672000 44 92 0 0 1 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209153527 209153527 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:209153527C>T ENST00000264380.4 + 7 1054 c.896C>T c.(895-897)tCt>tTt p.S299F PIKFYVE_ENST00000308862.6_Missense_Mutation_p.S213F|PIKFYVE_ENST00000392202.3_Missense_Mutation_p.S202F|PIKFYVE_ENST00000407449.1_Missense_Mutation_p.S299F NM_015040.3 NP_055855.2 Q9Y2I7 FYV1_HUMAN phosphoinositide kinase, FYVE finger containing 299 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 GCTGGGAAATCTCCTGCTCGA 0.358000 28 16 0 0 1 0 0 RELA 5970 broad.mit.edu 37 11 65422353 65422353 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:65422353G>A ENST00000406246.3 - 11 1413 c.1152C>T c.(1150-1152)ccC>ccT p.P384P RELA_ENST00000308639.9_Silent_p.P381P|RELA_ENST00000525693.1_3'UTR NM_001243984.1|NM_001243985.1|NM_021975.3 NP_001230913.1|NP_001230914.1|NP_068810.3 Q04206 TF65_HUMAN v-rel avian reticuloendotheliosis viral oncogene homolog A 384 anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|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 cytosol|transcription factor complex activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1) 19 gcaggacttggggaggggccg 0.652000 5 2 0 0 1 0 0 BRD4 23476 broad.mit.edu 37 19 15354140 15354140 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:15354140C>T ENST00000263377.2 - 14 2961 c.2740G>A c.(2740-2742)Gag>Aag p.E914K NM_058243.2 NP_490597.1 O60885 BRD4_HUMAN bromodomain containing 4 914 interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) TCTTCATCCTCCAGCAGCACT 0.677000 T C15orf55 lethal midline carcinoma of young people 3 11 0 0 1 0 0 GNL2 29889 broad.mit.edu 37 1 38033324 38033324 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:38033324C>G ENST00000373062.3 - 15 2091 c.1993G>C c.(1993-1995)Gag>Cag p.E665Q GNL2_ENST00000462812.1_5'UTR NM_013285.2 NP_037417.1 Q13823 NOG2_HUMAN guanine nucleotide binding protein-like 2 (nucleolar) 665 ribosome biogenesis nucleolus GTP binding|GTPase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 30 Myeloproliferative disorder(586;0.0393) TCCTGTTCCTCTTCCCTTTGT 0.393000 35 55 0 0 1 0 0 WTAP 9589 broad.mit.edu 37 6 160176585 160176585 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:160176585C>T ENST00000358372.4 + 8 2890 c.1133C>T c.(1132-1134)tCc>tTc p.S378F SOD2_ENST00000546087.1_Intron NM_001270531.1|NM_004906.4 NP_001257460.1|NP_004897.2 Q15007 FL2D_HUMAN Wilms tumor 1 associated protein 378 cell cycle|mRNA processing|RNA splicing nuclear membrane|nucleolus central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 18 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06) ACTGTGGGTTCCCGCCACGTT 0.413000 23 29 0 0 1 0 0 KARS 3735 broad.mit.edu 37 16 75678257 75678257 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:75678257G>A ENST00000319410.5 - 2 191 c.70C>T c.(70-72)Cac>Tac p.H24Y KARS_ENST00000302445.3_Intron|KARS_ENST00000568378.1_Missense_Mutation_p.H24Y NM_001130089.1 NP_001123561.1 Q15046 SYK_HUMAN lysyl-tRNA synthetase 0 interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 18 L-Lysine(DB00123) AGTTCCCTGTGACCCCACTCT 0.517000 4 8 0 0 1 0 0 CSPG4 1464 broad.mit.edu 37 15 75968128 75968128 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr15:75968128G>A ENST00000308508.5 - 10 6824 c.6732C>T c.(6730-6732)ttC>ttT p.F2244F NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 2244 angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 TTCGGAGGTAGAAGAGCAGGG 0.597000 29 76 0 0 1 0 0 WDR24 84219 broad.mit.edu 37 16 734745 734745 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:734745C>T ENST00000293883.4 - 9 3121 c.2362G>A c.(2362-2364)Gag>Aag p.E788K WDR24_ENST00000248142.6_Missense_Mutation_p.E918K NM_032259.2 NP_115635.1 Q96S15 WDR24_HUMAN WD repeat domain 24 918 breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3) 19 Hepatocellular(780;0.0218) CAGGAGTACTCGCAGAGGTGG 0.692000 3 12 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23855601 23855601 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr14:23855601C>G ENST00000405093.3 - 33 4952 c.4882G>C c.(4882-4884)Gag>Cag p.E1628Q MYH6_ENST00000356287.3_Missense_Mutation_p.E1628Q NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 1628 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) AGCTGGATCTCCATCTCATTG 0.612000 31 95 0 0 1 0 0 MIDN 90007 broad.mit.edu 37 19 1251888 1251888 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:1251888C>T ENST00000300952.2 + 4 887 c.372C>T c.(370-372)ctC>ctT p.L124L MIDN_ENST00000591446.2_Silent_p.L124L NM_177401.4 NP_796375.3 Q504T8 MIDN_HUMAN midnolin 124 nucleolus NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) 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) TCGAGAGTCTCACGGAGACGC 0.642000 18 12 0 0 1 0 0 MOSPD2 158747 broad.mit.edu 37 X 14937913 14937913 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chrX:14937913C>G ENST00000380492.3 + 15 1627 c.1539C>G c.(1537-1539)ttC>ttG p.F513L MOSPD2_ENST00000495110.1_3'UTR|MOSPD2_ENST00000482354.1_Intron NM_001177475.1|NM_152581.3 NP_001170946.1|NP_689794.1 Q8NHP6 MSPD2_HUMAN motile sperm domain containing 2 513 integral to membrane structural molecule activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Hepatocellular(33;0.183) CCTCTTTCTTCTATTTATTGT 0.433000 65 30 0 0 1 0 0 PPP2R5B 5526 broad.mit.edu 37 11 64695613 64695613 + Nonsense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:64695613C>T ENST00000164133.2 + 5 1196 c.574C>T c.(574-576)Caa>Taa p.Q192* NM_006244.3 NP_006235.1 Q15173 2A5B_HUMAN protein phosphatase 2, regulatory subunit B', beta 192 signal transduction cytoplasm|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2) 21 ATATGTGGATCAAAAGTTTGT 0.562000 57 74 0 0 1 0 0 ARF5 381 broad.mit.edu 37 7 127229639 127229639 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr7:127229639G>A ENST00000000233.5 + 3 403 c.249G>A c.(247-249)caG>caA p.Q83Q GCC1_ENST00000497650.1_Intron NM_001662.3 NP_001653.1 P84085 ARF5_HUMAN ADP-ribosylation factor 5 83 protein transport|small GTPase mediated signal transduction|vesicle-mediated transport Golgi apparatus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding cervix(2)|kidney(1)|lung(10)|ovary(1) 14 ACTACTTCCAGAACACTCAGG 0.542000 36 35 0 0 1 0 0 GPR107 57720 broad.mit.edu 37 9 132854624 132854624 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:132854624C>G ENST00000372406.1 + 9 1334 c.827C>G c.(826-828)tCt>tGt p.S276C GPR107_ENST00000347136.6_Missense_Mutation_p.S276C|GPR107_ENST00000372410.3_Missense_Mutation_p.S276C NM_001136557.1 NP_001130029.1 Q5VW38 GP107_HUMAN G protein-coupled receptor 107 276 integral to membrane endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 11 Ovarian(14;0.000531) TTCTTTCTTTCTGGGACCATC 0.403000 28 54 0 0 1 0 0 SPINT1 6692 broad.mit.edu 37 15 41137013 41137013 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr15:41137013C>T ENST00000344051.4 + 2 495 c.261C>T c.(259-261)tgC>tgT p.C87C SPINT1_ENST00000431806.1_Silent_p.C87C|SPINT1_ENST00000562057.1_Silent_p.C87C O43278 SPIT1_HUMAN serine peptidase inhibitor, Kunitz type 1 87 MANSC. 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) GCTGGGACTGCGTGCGCGCCT 0.682000 18 17 0 0 1 0 0 DSG1 1828 broad.mit.edu 37 18 28934958 28934958 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr18:28934958G>A ENST00000257192.4 + 15 3011 c.2799G>A c.(2797-2799)atG>atA p.M933I DSG1_ENST00000462981.2_Missense_Mutation_p.M292I|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 933 calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) CTTCCGGCATGATAGGTAGTC 0.478000 92 194 0 0 1 0 0 TGFBR3 7049 broad.mit.edu 37 1 92224293 92224293 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:92224293C>T ENST00000212355.4 - 4 726 c.261G>A c.(259-261)ctG>ctA p.L87L TGFBR3_ENST00000468996.2_5'UTR|TGFBR3_ENST00000525962.1_Silent_p.L87L|TGFBR3_ENST00000370399.2_Silent_p.L87L NM_001195683.1|NM_003243.4 NP_001182612.1|NP_003234.2 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 87 BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3) 55 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) AGATGGGATTCAGGTGAAGTG 0.498000 11 67 0 0 1 0 0 COQ6 51004 broad.mit.edu 37 14 74425724 74425724 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr14:74425724G>A ENST00000334571.2 + 6 703 c.663G>A c.(661-663)caG>caA p.Q221Q COQ6_ENST00000238709.4_Silent_p.Q146Q|COQ6_ENST00000394026.4_Silent_p.Q196Q|COQ6_ENST00000554920.1_Intron|ENTPD5_ENST00000557325.1_3'UTR NM_182476.2 NP_872282.1 Q9Y2Z9 COQ6_HUMAN coenzyme Q6 monooxygenase 221 ubiquinone biosynthetic process mitochondrion flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 16 BRCA - Breast invasive adenocarcinoma(234;0.00337) TTGGAATCCAGAATGTGAGCT 0.498000 24 53 0 0 1 0 0 UBR1 197131 broad.mit.edu 37 15 43317141 43317141 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr15:43317141G>A ENST00000290650.4 - 25 2703 c.2625C>T c.(2623-2625)ttC>ttT p.F875F UBR1_ENST00000382177.2_3'UTR NM_174916.2 NP_777576.1 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 1 875 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 58 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) TCACTTTGCTGAAAGCAGGGC 0.453000 49 52 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155200690 155200690 + Nonsense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:155200690G>C ENST00000460012.1 - 23 3392 c.3035C>G c.(3034-3036)tCa>tGa p.S1012* PLCH1_ENST00000414191.1_Nonsense_Mutation_p.S1012*|PLCH1_ENST00000334686.6_Nonsense_Mutation_p.S1012*|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000340059.7_Nonsense_Mutation_p.S1050* Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 1050 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TCCTGTGACTGACATGTGGGC 0.483000 41 63 0 0 1 0 0 GPN2 54707 broad.mit.edu 37 1 27210662 27210662 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:27210662G>A ENST00000374135.4 - 4 1049 c.849C>T c.(847-849)ttC>ttT p.F283F GPN2_ENST00000374133.3_Silent_p.F104F NM_018066.3 NP_060536.3 Q9H9Y4 GPN2_HUMAN GPN-loop GTPase 2 283 GTP binding endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1) 9 AAGAGAAATGGAAGTCGGCTC 0.537000 8 40 0 0 1 0 0 C7orf66 154907 broad.mit.edu 37 7 108524162 108524162 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr7:108524162C>T ENST00000379007.2 - 2 304 c.250G>A c.(250-252)Gag>Aag p.E84K NM_001024607.1 NP_001019778.1 A4D0T2 CG066_HUMAN chromosome 7 open reading frame 66 84 integral to membrane breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2) 15 ATGTATCCCTCATGAATTCTA 0.398000 14 59 0 0 1 0 0 CITED2 10370 broad.mit.edu 37 6 139695039 139695039 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:139695039C>T ENST00000367651.2 - 2 258 c.43G>A c.(43-45)Gac>Aac p.D15N CITED2_ENST00000537332.1_Missense_Mutation_p.D15N|CITED2_ENST00000536159.1_Missense_Mutation_p.D15N NM_006079.4 NP_006070.2 Q99967 CITE2_HUMAN Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 15 adrenal cortex formation|anti-apoptosis|cell proliferation|determination of left/right symmetry|heart development|liver development|negative regulation of cell migration|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell cycle|positive regulation of cell-cell adhesion|positive regulation of male gonad development|positive regulation of peroxisome proliferator activated receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of organ formation|response to estrogen stimulus|response to fluid shear stress|response to hypoxia|sex determination cytoplasm|nuclear chromatin|nucleus chromatin binding|LBD domain binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity large_intestine(1)|lung(4) 5 Breast(32;0.226) GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134) TTGGTGCCGTCGGGGAAGCGC 0.632000 14 32 0 0 1 0 0 KIAA1377 57562 broad.mit.edu 37 11 101833705 101833705 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:101833705C>T ENST00000263468.8 + 6 2209 c.1939C>T c.(1939-1941)Cat>Tat p.H647Y KIAA1377_ENST00000537689.1_Missense_Mutation_p.H448Y NM_020802.2 NP_065853.2 Q9P2H0 K1377_HUMAN KIAA1377 647 protein binding breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 53 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) TGAAAACAGTCATTCACTGAA 0.348000 26 18 0 0 1 0 0 DAZAP1 26528 broad.mit.edu 37 19 1432626 1432626 + Nonsense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:1432626C>T ENST00000336761.6 + 11 1190 c.985C>T c.(985-987)Cag>Tag p.Q329* DAZAP1_ENST00000233078.4_Nonsense_Mutation_p.Q329* NM_170711.1 NP_733829.1 Q96EP5 DAZP1_HUMAN DAZ associated protein 1 329 Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleotide binding|RNA binding breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) 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) GCCTCCGTCTCAGGCTGCCCC 0.672000 66 114 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186277669 186277669 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:186277669G>C ENST00000445192.2 + 7 2863 c.2818G>C c.(2818-2820)Gag>Cag p.E940Q PRG4_ENST00000367484.3_Missense_Mutation_p.E469Q|PRG4_ENST00000367485.4_Missense_Mutation_p.E847Q|PRG4_ENST00000367486.3_Missense_Mutation_p.E897Q|PRG4_ENST00000367483.4_Missense_Mutation_p.E899Q NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 940 cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 GATGACAAAAGAGACAGCAAC 0.383000 33 120 0 0 1 0 0 EHD2 30846 broad.mit.edu 37 19 48229211 48229211 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:48229211C>T ENST00000263277.3 + 4 896 c.645C>T c.(643-645)cgC>cgT p.R215R EHD2_ENST00000538399.1_Silent_p.R79R|CTD-2571L23.8_ENST00000599924.1_lincRNA NM_014601.3 NP_055416.2 Q9NZN4 EHD2_HUMAN EH-domain containing 2 215 blood coagulation|endocytic recycling nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 19 all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537) ACAAGATCCGCGTGGTGCTCA 0.637000 18 22 0 0 1 0 0 HSP90AA1 3320 broad.mit.edu 37 14 102605690 102605690 + Silent SNP G G T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr14:102605690G>T ENST00000334701.7 - 1 333 c.52C>A c.(52-54)Cgg>Agg p.R18R HSP90AA1_ENST00000558600.1_5'UTR NM_001017963.2 NP_001017963.2 P07900 HS90A_HUMAN heat shock protein 90kDa alpha (cytosolic), class A member 1 0 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1) 28 Rifabutin(DB00615) TCCCTGTCCCGAAGGGAGGGC 0.721000 6 17 0.217242 0.217547 1 1 0 THEMIS2 9473 broad.mit.edu 37 1 28208599 28208599 + Nonsense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:28208599G>A ENST00000373921.3 + 4 768 c.764G>A c.(763-765)tGg>tAg p.W255* THEMIS2_ENST00000328928.7_Nonsense_Mutation_p.W255*|THEMIS2_ENST00000373925.1_Intron|THEMIS2_ENST00000373927.3_Intron NM_001105556.1 NP_001099026.1 thymocyte selection associated family member 2 GTCCTGGCCTGGGAAGGCCCT 0.632000 24 51 0 0 1 0 0 EPHA5 2044 broad.mit.edu 37 4 66197802 66197802 + Missense_Mutation SNP G G T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr4:66197802G>T ENST00000273854.3 - 17 3497 c.2897C>A c.(2896-2898)gCc>gAc p.A966D EPHA5_ENST00000354839.4_Missense_Mutation_p.A944D|EPHA5_ENST00000432638.2_Missense_Mutation_p.A803D|EPHA5_ENST00000511294.1_Missense_Mutation_p.A967D NM_001281765.1|NM_004439.5 NP_001268694.1|NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 966 SAM. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 TGATCTGTAGGCCCCAGATCC 0.368000 TSP Lung(17;0.13) 4 36 0.00024832 0.000250424 1 1 0 PRSS8 5652 broad.mit.edu 37 16 31144247 31144247 + Silent SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:31144247G>C ENST00000317508.6 - 4 557 c.294C>G c.(292-294)gtC>gtG p.V98V PRSS8_ENST00000568261.1_Intron NM_002773.3 NP_002764.1 Q16651 PRSS8_HUMAN protease, serine, 8 98 Peptidase S1. proteolysis extracellular space|integral to membrane|plasma membrane serine-type endopeptidase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1) 8 CCCCCAGCTTGACCTCATAGG 0.637000 67 86 0 0 1 0 0 ZSWIM8 23053 broad.mit.edu 37 10 75556903 75556903 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr10:75556903C>T ENST00000604729.1 + 17 3604 c.3307C>T c.(3307-3309)Cca>Tca p.P1103S ZSWIM8_ENST00000398706.2_Missense_Mutation_p.P1103S|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.P1065S|RP11-574K11.31_ENST00000603027.1_3'UTR|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.P1098S|ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.P1098S zinc finger, SWIM-type containing 8 TGAGGGTCTTCCATCTGAGGC 0.582000 17 14 0 0 1 0 0 SLC16A5 9121 broad.mit.edu 37 17 73096793 73096793 + Silent SNP C C T rs150399123 TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:73096793C>T ENST00000450736.2 + 4 1450 c.1035C>T c.(1033-1035)atC>atT p.I345I SLC16A5_ENST00000538213.2_Silent_p.I385I|SLC16A5_ENST00000329783.4_Silent_p.I345I|SLC16A5_ENST00000580123.1_Silent_p.I345I O15375 MOT6_HUMAN solute carrier family 16 (monocarboxylate transporter), member 5 345 organic anion transport integral to plasma membrane|membrane fraction secondary active monocarboxylate transmembrane transporter activity|symporter activity central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 all_lung(278;0.226) LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235) Pyruvic acid(DB00119) TGAGTGGCATCGGCGCCCTCA 0.592000 39 81 0 0 1 0 0 C6orf222 389384 broad.mit.edu 37 6 36291965 36291965 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:36291965C>T ENST00000437635.2 - 7 1348 c.1171G>A c.(1171-1173)Gaa>Aaa p.E391K NM_001010903.4 NP_001010903.3 P0C671 CF222_HUMAN chromosome 6 open reading frame 222 391 p.E391*(1) breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4) 26 TGAATGAATTCTTCTGAAAAA 0.483000 18 25 0 0 1 0 0 HIST1H2BC 8347 broad.mit.edu 37 6 26123904 26123904 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:26123904C>T ENST00000314332.5 - 1 234 c.229G>A c.(229-231)Gag>Aag p.E77K HIST1H2BC_ENST00000396984.1_Missense_Mutation_p.E77K P62807 H2B1C_HUMAN histone cluster 1, H2bc 77 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1) 16 CGGGAAGCCTCGCCCGCGATG 0.587000 72 126 0 0 1 0 0 ACKR4 51554 broad.mit.edu 37 3 132319264 132319264 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:132319264C>T ENST00000249887.2 + 2 119 c.23C>T c.(22-24)tCa>tTa p.S8L ACAD11_ENST00000264990.6_Intron|ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000355458.3_Intron NM_016557.2|NM_178445.2 NP_057641.1|NP_848540.1 atypical chemokine receptor 4 CAGAACCAGTCAACAGATTAT 0.328000 9 16 0 0 1 0 0 KIAA0753 9851 broad.mit.edu 37 17 6515415 6515415 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:6515415G>A ENST00000361413.3 - 8 1727 c.1369C>T c.(1369-1371)Ctt>Ttt p.L457F KIAA0753_ENST00000542606.1_Missense_Mutation_p.L158F|KIAA0753_ENST00000572370.1_Missense_Mutation_p.L158F|KIAA0753_ENST00000589033.1_Intron NM_014804.2 NP_055619.2 Q2KHM9 K0753_HUMAN KIAA0753 457 centrosome endometrium(4)|large_intestine(11)|lung(5)|prostate(4) 24 COAD - Colon adenocarcinoma(228;0.157) AATACATCAAGCTCACTCTGC 0.413000 74 35 0 0 1 0 0 PARVA 55742 broad.mit.edu 37 11 12518096 12518096 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:12518096C>T ENST00000334956.8 + 5 955 c.612C>T c.(610-612)atC>atT p.I204I PARVA_ENST00000550549.1_Silent_p.I164I|PARVA_ENST00000539723.1_Silent_p.I164I|PARVA_ENST00000538608.1_Silent_p.I111I NM_018222.4 NP_060692.2 Q9NVD7 PARVA_HUMAN parvin, alpha 164 cell adhesion|cell junction assembly|cilium morphogenesis actin cytoskeleton|cytosol|focal adhesion actin binding breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4) 11 Epithelial(150;0.00624) TGGAGAAGATCAATGAAACCC 0.483000 3 22 0 0 1 0 0 BST1 683 broad.mit.edu 37 4 15706551 15706551 + Missense_Mutation SNP G G T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr4:15706551G>T ENST00000382346.3 + 2 246 c.197G>T c.(196-198)aGa>aTa p.R66I BST1_ENST00000265016.4_Intron Q10588 BST1_HUMAN bone marrow stromal cell antigen 1 63 humoral immune response|multicellular organismal development anchored to membrane|extrinsic to membrane|plasma membrane binding|NAD+ nucleosidase activity central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1) 8 AGGCAAATAAGAAACAGCAGA 0.383000 4 12 0.014758 0.0148203 1 1 0 ALOX15 246 broad.mit.edu 37 17 4536449 4536449 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:4536449G>C ENST00000570836.1 - 11 1506 c.1410C>G c.(1408-1410)atC>atG p.I470M ALOX15_ENST00000574640.1_Missense_Mutation_p.I431M|ALOX15_ENST00000545513.1_Missense_Mutation_p.I492M|ALOX15_ENST00000293761.3_Missense_Mutation_p.I470M P16050 LOX15_HUMAN arachidonate 15-lipoxygenase 470 Lipoxygenase. inflammatory response|leukotriene biosynthetic process nucleus arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5) 20 READ - Rectum adenocarcinoma(115;0.0327) Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744) ACCGATAGATGATTTCCCAGA 0.617000 39 20 0 0 1 0 0 BRD8 10902 broad.mit.edu 37 5 137501674 137501674 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr5:137501674G>A ENST00000254900.5 - 11 1492 c.1121C>T c.(1120-1122)tCa>tTa p.S374L BRD8_ENST00000230901.5_Missense_Mutation_p.S447L|BRD8_ENST00000402931.1_Missense_Mutation_p.S374L|BRD8_ENST00000455658.2_Missense_Mutation_p.S333L|BRD8_ENST00000411594.2_Missense_Mutation_p.S377L NM_139199.1 NP_631938 Q9H0E9 BRD8_HUMAN bromodomain containing 8 374 cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter mitochondrion|NuA4 histone acetyltransferase complex sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1) 35 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) TGCTACCCCTGATCGAAAACA 0.463000 34 83 0 0 1 0 0 EDEM1 9695 broad.mit.edu 37 3 5229559 5229559 + Nonsense_Mutation SNP C C A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:5229559C>A ENST00000600805.1 - 1 423 c.424G>T c.(424-426)Gag>Tag p.E142* EDEM1_ENST00000256497.4_Silent_p.L23L TATTGTGGCTCGTCTTCGGGC 0.667000 9 20 0.00448238 0.00451399 1 1 0 FEM1B 10116 broad.mit.edu 37 15 68582890 68582890 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr15:68582890G>C ENST00000306917.4 + 2 1809 c.1194G>C c.(1192-1194)ttG>ttC p.L398F NM_015322.4 NP_056137.1 Q9UK73 FEM1B_HUMAN fem-1 homolog b (C. elegans) 398 apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity cytoplasm|nucleus death receptor binding|ubiquitin-protein ligase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 9 TGATACATTTGAATGAAACTG 0.393000 28 54 0 0 1 0 0 GALM 130589 broad.mit.edu 37 2 38908553 38908553 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:38908553C>T ENST00000272252.5 + 3 729 c.477C>T c.(475-477)gtC>gtT p.V159V GALM_ENST00000410063.1_Intron NM_138801.2 NP_620156.1 Q96C23 GALM_HUMAN galactose mutarotase (aldose 1-epimerase) 159 hexose metabolic process cytoplasm aldose 1-epimerase activity|carbohydrate binding NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 all_hematologic(82;0.248) AGCTCATAGTCAACTACAGAG 0.522000 70 147 0 0 1 0 0 RCE1 9986 broad.mit.edu 37 11 66612482 66612482 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:66612482C>T ENST00000309657.3 + 5 638 c.594C>T c.(592-594)ttC>ttT p.F198F RCE1_ENST00000525356.1_Silent_p.F75F|RCE1_ENST00000524506.1_Silent_p.F198F NM_001032279.1|NM_005133.2 NP_001027450.1|NP_005124.1 Q9Y256 FACE2_HUMAN Ras converting CAAX endopeptidase 1 198 proteolysis endoplasmic reticulum membrane|integral to plasma membrane metalloendopeptidase activity breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 10 CTGCTGTGTTCACCTGCCCGC 0.592000 18 56 0 0 1 0 0 THADA 63892 broad.mit.edu 37 2 43779424 43779424 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:43779424G>A ENST00000405006.4 - 18 3080 c.2729C>T c.(2728-2730)tCt>tTt p.S910F THADA_ENST00000405975.2_Missense_Mutation_p.S910F|THADA_ENST00000330266.7_Missense_Mutation_p.S620F|THADA_ENST00000415080.2_Missense_Mutation_p.S620F|THADA_ENST00000402360.2_Missense_Mutation_p.S910F NM_001083953.1|NM_001271643.1 NP_001077422.1|NP_001258572.1 Q6YHU6 THADA_HUMAN thyroid adenoma associated 910 binding breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 66 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) CTGAAGCAGAGAATTTTCAGC 0.383000 17 18 0 0 1 0 0 MCM7 4176 broad.mit.edu 37 7 99695482 99695482 + Silent SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr7:99695482G>C ENST00000303887.5 - 8 1605 c.960C>G c.(958-960)acC>acG p.T320T MCM7_ENST00000343023.6_Silent_p.T320T|MCM7_ENST00000354230.3_Silent_p.T144T NM_005916.3 NP_005907.3 P33993 MCM7_HUMAN minichromosome maintenance complex component 7 320 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|protein binding endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1) 17 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Atorvastatin(DB01076) GCTCCTCCCTGGTGAGCTCTC 0.512000 4 90 0 0 1 0 0 HP1BP3 50809 broad.mit.edu 37 1 21071503 21071503 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:21071503G>A ENST00000375003.2 - 9 2493 c.993C>T c.(991-993)gtC>gtT p.V331V HP1BP3_ENST00000312239.5_Silent_p.V483V Q5SSJ5 HP1B3_HUMAN heterochromatin protein 1, binding protein 3 483 nucleosome assembly nucleosome|nucleus DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1) 16 all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201) GGGCAGCTGAGACTTTAGGTG 0.557000 26 49 0 0 1 0 0 EMB 133418 broad.mit.edu 37 5 49706754 49706754 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr5:49706754G>A ENST00000303221.5 - 4 644 c.429C>T c.(427-429)ttC>ttT p.F143F EMB_ENST00000508934.1_Silent_p.F89F|EMB_ENST00000506190.1_5'UTR|EMB_ENST00000514111.1_Silent_p.F93F NM_198449.2 NP_940851.1 Q6PCB8 EMB_HUMAN embigin 143 Ig-like V-type 1. integral to membrane breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 15 Lung SC(58;0.218) Lung NSC(810;0.0795) CCTCTCGAAAGAAACAAGAAT 0.289000 12 31 0 0 1 0 0 PIGO 84720 broad.mit.edu 37 9 35095512 35095512 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:35095512G>A ENST00000378617.3 - 2 445 c.51C>T c.(49-51)ttC>ttT p.F17F PIGO_ENST00000341666.3_Silent_p.F17F|PIGO_ENST00000361778.2_Silent_p.F17F|PIGO_ENST00000298004.5_Silent_p.F17F|PIGO_ENST00000492770.1_5'UTR NM_032634.3 NP_116023.2 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, class O 17 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3) 38 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) TGCCAGCGTAGAAGAGGAAGC 0.572000 15 21 0 0 1 0 0 SPEF1 25876 broad.mit.edu 37 20 3759867 3759867 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr20:3759867C>T ENST00000379756.3 - 3 514 c.354G>A c.(352-354)agG>agA p.R118R SPEF1_ENST00000463490.1_5'UTR NM_015417.4 NP_056232.2 Q9Y4P9 SPEF1_HUMAN sperm flagellar 1 118 cilium axoneme|cytoplasm|cytoskeleton cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 8 CGCCCTGCTTCCTGCGCCTCT 0.697000 3 5 0 0 1 0 0 IPO5 3843 broad.mit.edu 37 13 98641342 98641342 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr13:98641342G>A ENST00000261574.5 + 7 625 c.445G>A c.(445-447)Gaa>Aaa p.E149K IPO5_ENST00000539640.1_Intron|IPO5_ENST00000490680.1_Missense_Mutation_p.E131K NM_002271.4 NP_002262.3 O00410 IPO5_HUMAN importin 5 131 interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus cytoplasm|nuclear pore|nucleolus GTPase inhibitor activity|protein transporter activity|Ran GTPase binding breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 27 CCAGTGGCCCGAAGGTTTGAA 0.378000 8 31 0 0 1 0 0 RPLP2 6181 broad.mit.edu 37 11 810264 810264 + Silent SNP T T C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:810264T>C ENST00000321153.4 + 2 424 c.30T>C c.(28-30)gcT>gcC p.A10A RPLP2_ENST00000530797.1_Silent_p.A10A|RPLP2_ENST00000532004.1_Intron NM_001004.3 NP_000995.1 P05387 RLA2_HUMAN ribosomal protein, large, P2 10 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit RNA binding|structural constituent of ribosome lung(1) 1 all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198) all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) ACCTGCTGGCTGCCCTAGGGG 0.692000 8 20 0 0 1 0 0 B4GALT3 8703 broad.mit.edu 37 1 161143460 161143460 + Silent SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:161143460C>G ENST00000319769.5 - 6 960 c.738G>C c.(736-738)ctG>ctC p.L246L B4GALT3_ENST00000367998.1_Silent_p.L246L|PPOX_ENST00000495483.1_Intron|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000535223.1_Intron|B4GALT3_ENST00000470882.1_5'UTR NM_001199873.1|NM_003779.3 NP_001186802.1|NP_003770.1 O60512 B4GT3_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3 246 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity cervix(1)|endometrium(5)|large_intestine(6)|lung(6) 18 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) N-Acetyl-D-glucosamine(DB00141) CATTCATCTTCAGGTACTGGT 0.562000 59 69 0 0 1 0 0 NSRP1 84081 broad.mit.edu 37 17 28511835 28511835 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:28511835G>C ENST00000247026.5 + 7 883 c.820G>C c.(820-822)Gag>Cag p.E274Q NSRP1_ENST00000540900.3_3'UTR NM_001261467.1|NM_032141.3 NP_001248396.1|NP_115517.1 Q9H0G5 NSRP1_HUMAN nuclear speckle splicing regulatory protein 1 274 developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome nuclear speck|ribonucleoprotein complex mRNA binding|protein binding autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 14 AAAGGTCATAGAGACCCCTGA 0.483000 26 56 0 0 1 0 0 NRIP1 8204 broad.mit.edu 37 21 16339590 16339590 + Silent SNP G G T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr21:16339590G>T ENST00000400202.1 - 3 1636 c.924C>A c.(922-924)ggC>ggA p.G308G NRIP1_ENST00000400199.1_Silent_p.G308G|NRIP1_ENST00000318948.4_Silent_p.G308G P48552 NRIP1_HUMAN nuclear receptor interacting protein 1 308 Repression domain 1. androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 39 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) CATCCTTCTGGCCATTTTCTT 0.428000 13 27 9.31168e-06 9.43055e-06 1 1 0 TSSC4 10078 broad.mit.edu 37 11 2424368 2424368 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:2424368G>A ENST00000333256.6 + 3 948 c.505G>A c.(505-507)Gat>Aat p.D169N TSSC4_ENST00000467308.1_3'UTR|TSSC4_ENST00000451491.2_Missense_Mutation_p.D169N|TSSC4_ENST00000380992.1_Missense_Mutation_p.D105N|TSSC4_ENST00000380996.5_Missense_Mutation_p.D105N Q9Y5U2 TSSC4_HUMAN tumor suppressing subtransferable candidate 4 169 endometrium(3)|large_intestine(1)|lung(4) 8 all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209) BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19) CAGCCTGGAAGATGTGACCGA 0.672000 15 20 0 0 1 0 0 UBA52 7311 broad.mit.edu 37 19 18684538 18684538 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:18684538C>T ENST00000442744.2 + 3 228 c.170C>T c.(169-171)tCa>tTa p.S57L UBA52_ENST00000597451.1_Missense_Mutation_p.S57L|UBA52_ENST00000599595.1_Missense_Mutation_p.S57L|UBA52_ENST00000599551.1_Missense_Mutation_p.S57L|UBA52_ENST00000596273.1_Missense_Mutation_p.S57L|CRLF1_ENST00000594325.1_Intron|UBA52_ENST00000595683.1_Missense_Mutation_p.S57L|UBA52_ENST00000598780.1_Missense_Mutation_p.S57L|UBA52_ENST00000595158.1_Missense_Mutation_p.S57L|UBA52_ENST00000596304.1_Missense_Mutation_p.S57L|UBA52_ENST00000430157.2_Missense_Mutation_p.S57L NM_001033930.1 NP_001029102.1 P62987 RL40_HUMAN ubiquitin A-52 residue ribosomal protein fusion product 1 57 Ubiquitin-like. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|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|translational elongation|translational termination|viral transcription cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane|ribosome protein binding|structural constituent of ribosome endometrium(1)|large_intestine(2) 3 CGCACTCTCTCAGACTACAAC 0.592000 31 43 0 0 1 0 0 OR13C3 138803 broad.mit.edu 37 9 107298847 107298847 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:107298847G>A ENST00000374781.2 - 1 290 c.248C>T c.(247-249)tCt>tTt p.S83F NM_001001961.1 NP_001001961.1 Q8NGS6 O13C3_HUMAN olfactory receptor, family 13, subfamily C, member 3 83 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1) 19 GTGAAAATGAGAATCAAAGAT 0.398000 30 54 0 0 1 0 0 DCTN1 1639 broad.mit.edu 37 2 74605327 74605327 + Missense_Mutation SNP G G T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:74605327G>T ENST00000361874.3 - 2 396 c.79C>A c.(79-81)Ctg>Atg p.L27M DCTN1_ENST00000409240.1_Missense_Mutation_p.L10M|DCTN1_ENST00000409567.3_Missense_Mutation_p.L27M|DCTN1_ENST00000409868.1_Missense_Mutation_p.L10M|DCTN1_ENST00000394003.3_Missense_Mutation_p.L27M NM_004082.4 NP_004073.2 Q14203 DCTN1_HUMAN dynactin 1 27 cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3) 45 CCCACCCGCAGAGGCCGGGCG 0.587000 18 103 2.35188e-11 2.41618e-11 1 1 0 GPR37L1 9283 broad.mit.edu 37 1 202096876 202096876 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:202096876C>T ENST00000367282.5 + 2 744 c.638C>T c.(637-639)tCt>tTt p.S213F NM_004767.3 NP_004758.3 O60883 ETBR2_HUMAN G protein-coupled receptor 37 like 1 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2) 18 CAGGTCTCCTCTCTGGGAGTC 0.582000 24 51 0 0 1 0 0 COPZ2 51226 broad.mit.edu 37 17 46111232 46111232 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:46111232C>G ENST00000006101.4 - 4 258 c.259G>C c.(259-261)Gag>Cag p.E87Q COPZ2_ENST00000584666.1_5'UTR NM_016429.2 NP_057513.1 Q9P299 COPZ2_HUMAN coatomer protein complex, subunit zeta 2 89 intracellular protein transport|vesicle-mediated transport cis-Golgi network|COPI vesicle coat lung(3)|upper_aerodigestive_tract(1) 4 CACTTACTCTCAGTCCGGCTG 0.483000 3 11 0 0 1 0 0 UBN1 29855 broad.mit.edu 37 16 4903131 4903131 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:4903131C>T ENST00000396658.4 + 1 916 c.213C>T c.(211-213)atC>atT p.I71I UBN1_ENST00000590769.1_Silent_p.I71I|UBN1_ENST00000262376.6_Silent_p.I71I|UBN1_ENST00000545171.1_Silent_p.I71I NM_016936.3 NP_058632.2 Q9NPG3 UBN1_HUMAN ubinuclein 1 71 Sufficient for interaction with HIRA. chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 TGAAGAATATCCGAGGGAAGG 0.542000 21 60 0 0 1 0 0 ZNF394 84124 broad.mit.edu 37 7 99097547 99097547 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr7:99097547G>A ENST00000337673.6 - 1 373 c.170C>T c.(169-171)tCg>tTg p.S57L ZNF394_ENST00000394177.3_Intron|ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000426306.2_Missense_Mutation_p.S57L NM_032164.2 NP_115540.2 Q53GI3 ZN394_HUMAN zinc finger protein 394 57 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1) 16 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) GGGGTCCGGCGAAGCCGCGGG 0.632000 51 50 0 0 1 0 0 DNM2 1785 broad.mit.edu 37 19 10886554 10886554 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:10886554C>T ENST00000314646.5 + 4 725 c.561C>T c.(559-561)ctC>ctT p.L187L DNM2_ENST00000591819.1_3'UTR|DNM2_ENST00000359692.6_Silent_p.L187L|DNM2_ENST00000389253.4_Silent_p.L187L|DNM2_ENST00000408974.4_Silent_p.L187L|DNM2_ENST00000585892.1_Silent_p.L187L|DNM2_ENST00000355667.6_Silent_p.L187L P50570 DYN2_HUMAN dynamin 2 187 G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 42 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) CCGACGCCCTCAAGCTGGCCA 0.597000 """F, N, Splice, Mis, O""" ETP ALL 34 61 0 0 1 0 0 ZNF681 148213 broad.mit.edu 37 19 23926686 23926686 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:23926686G>A ENST00000402377.3 - 4 1807 c.1666C>T c.(1666-1668)Cat>Tat p.H556Y ZNF681_ENST00000395385.3_Missense_Mutation_p.H487Y NM_138286.2 NP_612143.2 Q96N22 ZN681_HUMAN zinc finger protein 681 556 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.H487Y(1) central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3) 21 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) TCTCCAGTATGAATTACCTTA 0.393000 22 51 0 0 1 0 0 BZRAP1 9256 broad.mit.edu 37 17 56388027 56388027 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:56388027G>A ENST00000355701.3 - 20 4415 c.3545C>T c.(3544-3546)gCa>gTa p.A1182V BZRAP1_ENST00000343736.4_Missense_Mutation_p.A1182V|BZRAP1_ENST00000268893.6_Missense_Mutation_p.A1122V NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 1182 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) TGAGGGAGCTGCGGGGCCAGG 0.672000 12 34 0 0 1 0 0 RPL24 6152 broad.mit.edu 37 3 101401690 101401690 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:101401690G>A ENST00000469605.1 - 4 272 c.254C>T c.(253-255)gCa>gTa p.A85V RPL24_ENST00000495401.1_Missense_Mutation_p.A85V|RPL24_ENST00000394077.3_Missense_Mutation_p.A85V P83731 RL24_HUMAN ribosomal protein L24 85 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit protein binding|RNA binding|structural constituent of ribosome large_intestine(1)|lung(2)|urinary_tract(1) 4 AGCAAGAGATGCACCAGTAAT 0.443000 18 39 0 0 1 0 0 MED13L 23389 broad.mit.edu 37 12 116429065 116429065 + Nonsense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr12:116429065G>A ENST00000281928.3 - 17 3900 c.3694C>T c.(3694-3696)Caa>Taa p.Q1232* NM_015335.4 NP_056150.1 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 1232 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 85 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) TGTGTGTGTTGATTCTGGAGG 0.493000 27 88 0 0 1 0 0 ARFGAP2 84364 broad.mit.edu 37 11 47189594 47189594 + Splice_Site SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:47189594C>G ENST00000524782.1 - 12 1299 c.1071G>C c.(1069-1071)aaG>aaC p.K357N ARFGAP2_ENST00000426335.2_Splice_Site_p.K221N|ARFGAP2_ENST00000395449.3_5'UTR|ARFGAP2_ENST00000419701.2_Splice_Site_p.K250N|ARFGAP2_ENST00000319543.6_Splice_Site_p.K88N NM_001242832.1|NM_032389.4 NP_001229761.1|NP_115765.2 Q8N6H7 ARFG2_HUMAN ADP-ribosylation factor GTPase activating protein 2 357 Required for interaction with coatomer. protein transport|regulation of ARF GTPase activity|vesicle-mediated transport Golgi membrane|nucleolus|plasma membrane ARF GTPase activator activity|zinc ion binding breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 TGTCCTTGTACCTAGGGAGAC 0.527000 11 75 0 0 1 0 0 SON 6651 broad.mit.edu 37 21 34929569 34929569 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr21:34929569G>C ENST00000356577.4 + 4 6743 c.6268G>C c.(6268-6270)Gaa>Caa p.E2090Q SON_ENST00000381679.4_Missense_Mutation_p.E2090Q|SON_ENST00000300278.4_Missense_Mutation_p.E2090Q|SON_ENST00000381692.2_Missense_Mutation_p.E118Q|SON_ENST00000290239.6_Missense_Mutation_p.E2090Q NM_138927.1 NP_620305 P18583 SON_HUMAN SON DNA binding protein 2090 E -> V (in Ref. 2; AAK07692 and 12; CAA45282). anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 ACCTACTATAGAAGAGAAAGT 0.403000 19 20 0 0 1 0 0 TMEM202 338949 broad.mit.edu 37 15 72699440 72699440 + Silent SNP C C A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr15:72699440C>A ENST00000341689.3 + 4 555 c.501C>A c.(499-501)ctC>ctA p.L167L TMEM202_ENST00000567679.1_Intron NM_001080462.1 NP_001073931.1 A6NGA9 TM202_HUMAN transmembrane protein 202 167 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 18 CCTGCTTGCTCCTCTGCCTCA 0.532000 16 65 0.00400662 0.00403773 1 1 0 PRRC2A 7916 broad.mit.edu 37 6 31599767 31599767 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:31599767C>T ENST00000376033.2 + 16 3551 c.3317C>T c.(3316-3318)tCa>tTa p.S1106L PRRC2A_ENST00000376007.4_Missense_Mutation_p.S1106L NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 1106 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 CAGCGGGGCTCAGAAACAGGC 0.642000 31 47 0 0 1 0 0 DBF4 10926 broad.mit.edu 37 7 87530136 87530136 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr7:87530136G>C ENST00000265728.1 + 10 1371 c.867G>C c.(865-867)gaG>gaC p.E289D NM_006716.3 NP_006707.1 Q9UBU7 DBF4A_HUMAN DBF4 homolog (S. cerevisiae) 289 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3) 28 Esophageal squamous(14;0.00202) Breast(660;0.0334) AGTTGAAAGAGAAGAAGAAAA 0.353000 22 100 0 0 1 0 0 NBEAL2 23218 broad.mit.edu 37 3 47033343 47033343 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:47033343G>A ENST00000450053.3 + 9 1118 c.939G>A c.(937-939)atG>atA p.M313I NBEAL2_ENST00000292309.5_Missense_Mutation_p.M313I|NBEAL2_ENST00000383740.2_De_novo_Start_InFrame NM_015175.2 NP_055990.1 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 313 binding NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) CCATCCCCATGATGCTGGCAT 0.567000 8 16 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38939412 38939412 + Missense_Mutation SNP C C G rs150428096 TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:38939412C>G ENST00000359357.3 + 81 12099 c.11845C>G c.(11845-11847)Cga>Gga p.R3949G DNAH8_ENST00000449981.2_Missense_Mutation_p.R4166G|DNAH8_ENST00000441566.1_Missense_Mutation_p.R3913G dynein, axonemal, heavy chain 8 p.R3949*(2) NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 AGTACATGCTCGAAAGCTGAT 0.418000 19 45 0 0 1 0 0 BICD2 23299 broad.mit.edu 37 9 95482795 95482795 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:95482795G>A ENST00000356884.6 - 4 916 c.849C>T c.(847-849)ctC>ctT p.L283L BICD2_ENST00000375512.3_Silent_p.L283L NM_001003800.1 NP_001003800.1 Q8TD16 BICD2_HUMAN bicaudal D homolog 2 (Drosophila) 283 microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane Rab GTPase binding cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 CACTGAACTTGAGGCCATCCA 0.577000 39 72 0 0 1 0 0 GNAT2 2780 broad.mit.edu 37 1 110148938 110148938 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:110148938C>G ENST00000351050.3 - 5 768 c.582G>C c.(580-582)ttG>ttC p.L194F NM_005272.3 NP_005263.1 P19087 GNAT2_HUMAN guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 194 detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane G-protein beta/gamma-subunit complex binding|G-protein coupled photoreceptor activity|G-protein-coupled receptor binding|GTP binding|GTPase activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 14 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227) ACCTGAAATTCAAGTCTTTGA 0.493000 16 86 0 0 1 0 0 ZKSCAN5 23660 broad.mit.edu 37 7 99123932 99123932 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr7:99123932C>T ENST00000394170.2 + 6 1520 c.1269C>T c.(1267-1269)gtC>gtT p.V423V ZKSCAN5_ENST00000326775.5_Silent_p.V423V|ZKSCAN5_ENST00000451158.1_Silent_p.V423V NM_014569.3 NP_055384.1 Q9Y2L8 ZKSC5_HUMAN zinc finger with KRAB and SCAN domains 5 423 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) ACCACAGTGTCCACAGCGGAG 0.562000 66 258 0 0 1 0 0 PNPLA7 375775 broad.mit.edu 37 9 140358794 140358794 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:140358794C>T ENST00000406427.1 - 27 3490 c.3154G>A c.(3154-3156)Gag>Aag p.E1052K PNPLA7_ENST00000371457.1_Missense_Mutation_p.E633K|PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000277531.4_Missense_Mutation_p.E1027K NM_001098537.1 NP_001092007.1 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 1027 Patatin. lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) GGGTGCACCTCGATCTGCTGG 0.652000 67 142 0 0 1 0 0 FGFRL1 53834 broad.mit.edu 37 4 1018245 1018245 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr4:1018245G>A ENST00000398484.2 + 7 1445 c.865G>A c.(865-867)Gag>Aag p.E289K FGFRL1_ENST00000264748.6_Missense_Mutation_p.E289K|FGFRL1_ENST00000504138.1_Missense_Mutation_p.E289K|FGFRL1_ENST00000510644.1_Missense_Mutation_p.E289K Q8N441 FGRL1_HUMAN fibroblast growth factor receptor-like 1 289 Ig-like C2-type 3. regulation of cell growth integral to membrane|plasma membrane fibroblast growth factor receptor activity|heparin binding endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 13 OV - Ovarian serous cystadenocarcinoma(23;0.0158) GTACGGCGCCGAGGGCCGCCA 0.657000 17 81 0 0 1 0 0 CXCR6 10663 broad.mit.edu 37 3 45988917 45988917 + Nonsense_Mutation SNP C C A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:45988917C>A ENST00000458629.1 + 1 2407 c.944C>A c.(943-945)tCa>tAa p.S315* CXCR6_ENST00000457814.1_Nonsense_Mutation_p.S315*|FYCO1_ENST00000535325.1_Intron|CXCR6_ENST00000304552.4_Nonsense_Mutation_p.S315*|FYCO1_ENST00000438446.1_Intron|CXCR6_ENST00000438735.1_Nonsense_Mutation_p.S315*|FYCO1_ENST00000296137.2_Intron O00574 CXCR6_HUMAN chemokine (C-X-C motif) receptor 6 315 viral genome replication integral to plasma membrane coreceptor activity central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) CTTGGGGTCTCACATCAATGG 0.478000 37 49 2.19358e-23 2.28478e-23 1 1 0 ATG16L2 89849 broad.mit.edu 37 11 72537613 72537613 + Missense_Mutation SNP G G T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:72537613G>T ENST00000321297.5 + 12 1362 c.1224G>T c.(1222-1224)aaG>aaT p.K408N ATG16L2_ENST00000534905.1_Intron NM_033388.1 NP_203746.1 Q8NAA4 A16L2_HUMAN autophagy related 16-like 2 (S. cerevisiae) 408 autophagy|protein transport cytoplasm protein binding breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9) 14 BRCA - Breast invasive adenocarcinoma(5;2.73e-06) AGCTCTGGAAGGTGGGGGAGG 0.592000 36 30 6.70999e-13 6.91332e-13 1 1 0 ZKSCAN1 7586 broad.mit.edu 37 7 99631213 99631213 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr7:99631213C>T ENST00000324306.6 + 6 1319 c.1085C>T c.(1084-1086)tCc>tTc p.S362F ZKSCAN1_ENST00000535170.1_Missense_Mutation_p.S149F|ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.S326F NM_003439.1 NP_003430.1 P17029 ZKSC1_HUMAN zinc finger with KRAB and SCAN domains 1 362 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) AGTCTGAGCTCCAACTTCACC 0.483000 36 38 0 0 1 0 0 CEP104 9731 broad.mit.edu 37 1 3732014 3732014 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:3732014C>T ENST00000378230.3 - 22 3054 c.2730G>A c.(2728-2730)ccG>ccA p.P910P NM_014704.3 NP_055519.1 O60308 CE104_HUMAN centrosomal protein 104kDa 910 centriole binding breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3) 39 GTCCGCCCTTCGGGGTGGGGA 0.637000 7 10 0 0 1 0 0 ART4 420 broad.mit.edu 37 12 14993596 14993596 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr12:14993596G>A ENST00000228936.4 - 2 1017 c.636C>T c.(634-636)ctC>ctT p.L212L C12orf60_ENST00000527783.1_Intron NM_021071.2 NP_066549.2 Q93070 NAR4_HUMAN ADP-ribosyltransferase 4 212 arginine metabolic process|protein ADP-ribosylation anchored to membrane|plasma membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3) 15 CTTCTTTCAGGAGGGATGTGG 0.493000 15 45 0 0 1 0 0 DNAJC16 23341 broad.mit.edu 37 1 15892465 15892465 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:15892465C>T ENST00000375847.3 + 12 1814 c.1650C>T c.(1648-1650)ctC>ctT p.L550L DNAJC16_ENST00000375838.1_Silent_p.L550L|DNAJC16_ENST00000375849.1_Silent_p.L550L|DNAJC16_ENST00000483270.1_3'UTR NM_015291.2 NP_056106.1 Q9Y2G8 DJC16_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 16 550 cell redox homeostasis|protein folding integral to membrane heat shock protein binding|unfolded protein binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1) 18 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) TCTTCATCCTCTTCGGCACTG 0.433000 113 146 0 0 1 0 0 LRPPRC 10128 broad.mit.edu 37 2 44209417 44209417 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:44209417C>G ENST00000260665.7 - 2 363 c.306G>C c.(304-306)aaG>aaC p.K102N LRPPRC_ENST00000409659.1_Missense_Mutation_p.K102N|LRPPRC_ENST00000409946.1_Missense_Mutation_p.K102N NM_133259.3 NP_573566.2 P42704 LPPRC_HUMAN leucine-rich pentatricopeptide repeat containing 102 mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm beta-tubulin binding|microtubule binding|RNA binding breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2) 41 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) GTAGAAGCTTCTTTGGAATGC 0.408000 20 64 0 0 1 0 0 RASGRF1 5923 broad.mit.edu 37 15 79356818 79356818 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr15:79356818C>T ENST00000419573.3 - 2 601 c.327G>A c.(325-327)ctG>ctA p.L109L RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.L109L NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 109 PH 1. activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 CCTCTGTCCTCAGCTCCAAGG 0.517000 59 95 0 0 1 0 0 NDUFS3 4722 broad.mit.edu 37 11 47605943 47605943 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:47605943G>A ENST00000263774.4 + 7 787 c.705G>A c.(703-705)ctG>ctA p.L235L NDUFS3_ENST00000533507.1_3'UTR NM_004551.2 NP_004542.1 O75489 NDUS3_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) 235 induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport mitochondrial respiratory chain complex I electron carrier activity|NADH dehydrogenase (ubiquinone) activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2) 9 NADH(DB00157) AATTTGACCTGAACAGCCCCT 0.557000 40 165 0 0 1 0 0 RASGEF1B 153020 broad.mit.edu 37 4 82368724 82368724 + Silent SNP G G A rs142332080 TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr4:82368724G>A ENST00000509081.1 - 6 881 c.660C>T c.(658-660)ctC>ctT p.L220L RASGEF1B_ENST00000264400.2_Silent_p.L221L|RASGEF1B_ENST00000335927.7_Silent_p.L179L Q0VAM2 RGF1B_HUMAN RasGEF domain family, member 1B 221 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 26 CAATATAATTGAGCCTCTCCT 0.443000 9 19 0 0 1 0 0 RELA 5970 broad.mit.edu 37 11 65422347 65422347 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:65422347G>A ENST00000406246.3 - 11 1419 c.1158C>T c.(1156-1158)gtC>gtT p.V386V RELA_ENST00000308639.9_Silent_p.V383V|RELA_ENST00000525693.1_3'UTR NM_001243984.1|NM_001243985.1|NM_021975.3 NP_001230913.1|NP_001230914.1|NP_068810.3 Q04206 TF65_HUMAN v-rel avian reticuloendotheliosis viral oncogene homolog A 386 anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|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 cytosol|transcription factor complex activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1) 19 cctggggcaggacttggggag 0.662000 4 1 0 0 1 0 0 TAOK1 57551 broad.mit.edu 37 17 27844576 27844576 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:27844576C>G ENST00000261716.3 + 16 2329 c.1810C>G c.(1810-1812)Ctt>Gtt p.L604V TAOK1_ENST00000536202.1_Intron NM_020791.2 NP_065842.1 Q7L7X3 TAOK1_HUMAN TAO kinase 1 604 mitotic prometaphase cytosol|intracellular membrane-bounded organelle ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 Colorectal(6;0.198) AGCTAACCTTCTTCGACGTCA 0.438000 71 202 0 0 1 0 0 GGCX 2677 broad.mit.edu 37 2 85777174 85777174 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:85777174C>T ENST00000233838.4 - 15 2240 c.2160G>A c.(2158-2160)gtG>gtA p.V720V GGCX_ENST00000430215.3_Silent_p.V663V NM_000821.5 NP_000812.2 P38435 VKGC_HUMAN gamma-glutamyl carboxylase blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification endoplasmic reticulum membrane|integral to membrane|membrane fraction gamma-glutamyl carboxylase activity endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2) 15 Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022) TTGCATAAGTCACCTCCTGGG 0.473000 33 38 0 0 1 0 0 ARVCF 421 broad.mit.edu 37 22 19960349 19960349 + Splice_Site SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr22:19960349G>A ENST00000263207.3 - 16 2843 c.2552C>T c.(2551-2553)tCa>tTa p.S851L ARVCF_ENST00000406522.1_Splice_Site_p.S782L|ARVCF_ENST00000406259.1_Splice_Site_p.S845L|ARVCF_ENST00000401994.1_Splice_Site_p.S788L|ARVCF_ENST00000344269.3_Splice_Site_p.S788L NM_001670.2 NP_001661.1 O00192 ARVC_HUMAN armadillo repeat gene deleted in velocardiofacial syndrome 851 cell adhesion|multicellular organismal development protein binding NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2) 13 Colorectal(54;0.0993) AGCAGCAGCTGACTGAGACAT 0.577000 24 37 0 0 1 0 0 HPS4 89781 broad.mit.edu 37 22 26868343 26868343 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr22:26868343G>A ENST00000398145.2 - 6 1042 c.426C>T c.(424-426)ttC>ttT p.F142F HPS4_ENST00000402105.3_Silent_p.F137F|HPS4_ENST00000398141.1_Silent_p.F137F|HPS4_ENST00000336873.5_Silent_p.F142F NM_022081.5 NP_071364.4 Q9NQG7 HPS4_HUMAN Hermansky-Pudlak syndrome 4 142 lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting lysosome|melanosome|membrane fraction|platelet dense granule protein homodimerization activity breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 32 TTTGCTCGATGAAGGTGTCCC 0.413000 Hermansky-Pudlak syndrome 46 95 0 0 1 0 0 GGT6 124975 broad.mit.edu 37 17 4461899 4461899 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:4461899G>A ENST00000301395.3 - 3 856 c.797C>T c.(796-798)gCa>gTa p.A266V GGT6_ENST00000381550.3_Missense_Mutation_p.A304V|GGT6_ENST00000573591.1_Missense_Mutation_p.A150V|GGT6_ENST00000574154.1_Missense_Mutation_p.A298V NM_153338.2 NP_699169.2 Q6P531 GGT6_HUMAN gamma-glutamyltransferase 6 298 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 TAGCTGCTCTGCTGGTTCCAA 0.662000 8 5 0 0 1 0 0 PCBP1 5093 broad.mit.edu 37 2 70315024 70315024 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:70315024C>T ENST00000303577.5 + 1 440 c.149C>T c.(148-150)tCg>tTg p.S50L PCBP1-AS1_ENST00000423402.1_RNA|PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA NM_006196.3 NP_006187.2 Q15365 PCBP1_HUMAN poly(rC) binding protein 1 50 KH 1. nuclear mRNA splicing, via spliceosome cytoplasm|nucleoplasm|ribonucleoprotein complex protein binding|RNA binding|single-stranded DNA binding endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1) 12 ATCAACATCTCGGAGGGGAAT 0.527000 88 116 0 0 1 0 0 PARP4 143 broad.mit.edu 37 13 25074459 25074459 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr13:25074459G>A ENST00000381989.3 - 4 501 c.396C>T c.(394-396)ctC>ctT p.L132L NM_006437.3 NP_006428.2 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 132 cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) ATTACTCAGTGAGTTCCACAG 0.393000 42 24 0 0 1 0 0 IZUMO2 126123 broad.mit.edu 37 19 50655892 50655892 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:50655892G>C ENST00000293405.3 - 7 640 c.640C>G c.(640-642)Caa>Gaa p.Q214E NM_152358.2 NP_689571.2 Q6UXV1 IZUM2_HUMAN IZUMO family member 2 214 integral to membrane cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1) 7 TTTCGGTTTTGTCTGTATGTA 0.408000 85 275 0 0 1 0 0 CST8 10047 broad.mit.edu 37 20 23472337 23472337 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr20:23472337C>T ENST00000246012.1 + 2 390 c.33C>T c.(31-33)ctC>ctT p.L11L NM_005492.2 NP_005483.1 O60676 CST8_HUMAN cystatin 8 (cystatin-related epididymal specific) 11 extracellular region cysteine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2) 16 Colorectal(13;0.0431)|Lung NSC(19;0.235) CCCTGATCCTCCTCACCATTC 0.582000 67 136 0 0 1 0 0 L3MBTL2 83746 broad.mit.edu 37 22 41616856 41616856 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr22:41616856C>T ENST00000216237.5 + 7 995 c.837C>T c.(835-837)atC>atT p.I279I NM_031488.4 NP_113676.2 Q969R5 LMBL2_HUMAN l(3)mbt-like 2 (Drosophila) 279 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus methylated histone residue binding|transcription corepressor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 ACAGCAAGATCCTAGTGCCCC 0.532000 30 65 0 0 1 0 0 DNM1P34 729809 broad.mit.edu 37 15 75594859 75594859 + RNA SNP C C A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr15:75594859C>A ENST00000567292.1 - 0 447 TGAGACCAACCATGAGGTCCC 0.597000 7 29 3.09899e-07 3.15196e-07 1 1 0 DPP8 54878 broad.mit.edu 37 15 65748600 65748600 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr15:65748600C>T ENST00000341861.5 - 16 3709 c.2129G>A c.(2128-2130)cGa>cAa p.R710Q DPP8_ENST00000300141.6_Missense_Mutation_p.R694Q|DPP8_ENST00000559233.1_Missense_Mutation_p.R710Q|DPP8_ENST00000339244.5_Missense_Mutation_p.R537Q|DPP8_ENST00000321147.6_Missense_Mutation_p.R710Q|DPP8_ENST00000358939.4_Intron|DPP8_ENST00000321118.7_Intron NM_197960.2 NP_932064.1 Q6V1X1 DPP8_HUMAN dipeptidyl-peptidase 8 710 immune response|proteolysis cytoplasm|membrane|nucleus aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 TTTAAGCCCTCGGTGACAGGA 0.393000 41 64 0 0 1 0 0 NCAM1 4684 broad.mit.edu 37 11 113078589 113078589 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:113078589G>C ENST00000316851.7 + 6 751 c.751G>C c.(751-753)Gag>Cag p.E251Q NCAM1_ENST00000533760.1_Missense_Mutation_p.E143Q|NCAM1_ENST00000401611.2_Missense_Mutation_p.E260Q|NCAM1_ENST00000397957.4_3'UTR NM_001242607.1|NM_181351.4 NP_001229536.1|NP_851996.2 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 261 Ig-like C2-type 3. axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) GGAAGACGATGAGAAGTACAT 0.433000 3 13 0 0 1 0 0 RNH1 6050 broad.mit.edu 37 11 494697 494697 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:494697G>A ENST00000534797.1 - 9 2787 c.1380C>T c.(1378-1380)atC>atT p.I460I RNH1_ENST00000356187.5_Silent_p.I460I|RNH1_ENST00000354420.2_Silent_p.I460I|RNH1_ENST00000397604.3_Silent_p.I460I|RNH1_ENST00000438658.2_Silent_p.I460I|RNH1_ENST00000397615.2_Silent_p.I460I|RNH1_ENST00000533410.1_Silent_p.I460I|RNH1_ENST00000397614.1_Silent_p.I460I P13489 RINI_HUMAN ribonuclease/angiogenin inhibitor 1 460 mRNA catabolic process|regulation of angiogenesis angiogenin-PRI complex|cytoplasm protein binding|ribonuclease inhibitor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 10 all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703) AGCCTCAGGAGATGACCCTCA 0.627000 38 114 0 0 1 0 0 HIVEP2 3097 broad.mit.edu 37 6 143094612 143094612 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:143094612C>T ENST00000367603.2 - 5 2006 c.1264G>A c.(1264-1266)Gaa>Aaa p.E422K HIVEP2_ENST00000367604.1_Missense_Mutation_p.E422K|HIVEP2_ENST00000012134.2_Missense_Mutation_p.E422K NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 422 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) ATGATTTCTTCATAAGACTTT 0.468000 30 66 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113518581 113518581 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr7:113518581G>C ENST00000284601.3 - 4 2634 c.2566C>G c.(2566-2568)Caa>Gaa p.Q856E NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 856 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 GTTGCTTTTTGATATTCTGTA 0.373000 29 120 0 0 1 0 0 ANKS1A 23294 broad.mit.edu 37 6 35047442 35047442 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:35047442C>T ENST00000360359.3 + 15 2571 c.2433C>T c.(2431-2433)gtC>gtT p.V811V ANKS1A_ENST00000470698.1_3'UTR|ANKS1A_ENST00000535627.1_Intron NM_015245.2 NP_056060.2 Q92625 ANS1A_HUMAN ankyrin repeat and sterile alpha motif domain containing 1A 811 SAM 2. cytoplasm protein binding cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 TAGAGCTCGTCAATGTGAGTA 0.607000 14 46 0 0 1 0 0 SNURF 8926 broad.mit.edu 37 15 25213157 25213157 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr15:25213157C>T ENST00000338094.6 + 3 250 c.189C>T c.(187-189)ttC>ttT p.F63F SNURF_ENST00000338327.4_Silent_p.F63F|SNRPN_ENST00000400100.1_5'UTR|SNRPN_ENST00000577565.1_5'UTR|SNRPN_ENST00000400098.1_5'UTR|SNRPN_ENST00000390687.4_5'UTR|SNRPN_ENST00000553597.1_3'UTR|SNURF_ENST00000551312.2_Silent_p.F63F|SNRPN_ENST00000400097.1_5'UTR|SNRPN_ENST00000554227.2_5'UTR|SNRPN_ENST00000346403.6_5'UTR|SNURF_ENST00000577949.1_Silent_p.F63F NM_003097.3|NM_005678.3 NP_003088.1|NP_005669.2 SNRPN upstream reading frame breast(2)|large_intestine(2)|lung(1) 5 all_cancers(20;1.4e-21)|Breast(32;0.000625) all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142) GGCAGGCATTCTTAGCTGAGA 0.468000 4 56 0 0 1 0 0 RAD50 10111 broad.mit.edu 37 5 131973864 131973864 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr5:131973864G>A ENST00000378823.3 + 23 3968 c.3150G>A c.(3148-3150)ctG>ctA p.L1050L RAD50_ENST00000265335.6_Silent_p.L1189L|AC004041.2_ENST00000435042.1_RNA|AC004041.2_ENST00000458509.1_RNA|AC004041.2_ENST00000457489.1_RNA|AC004041.2_ENST00000417516.1_RNA NM_005732.3 NP_005723.2 Q92878 RAD50_HUMAN RAD50 homolog (S. cerevisiae) 1189 DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 all_cancers(142;0.0368)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TGGTGATGCTGAAGGGAGACA 0.458000 Homologous recombination 28 46 0 0 1 0 0 HHAT 55733 broad.mit.edu 37 1 210578017 210578017 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:210578017C>G ENST00000367010.1 + 6 905 c.678C>G c.(676-678)atC>atG p.I226M HHAT_ENST00000541565.1_Intron|HHAT_ENST00000545154.1_Missense_Mutation_p.I227M|HHAT_ENST00000261458.3_Missense_Mutation_p.I226M|HHAT_ENST00000391905.3_Missense_Mutation_p.I226M|HHAT_ENST00000537898.1_Missense_Mutation_p.I161M|HHAT_ENST00000413764.2_Missense_Mutation_p.I226M|HHAT_ENST00000545781.1_Missense_Mutation_p.I163M|HHAT_ENST00000308852.6_Missense_Mutation_p.I181M NM_001170580.1 NP_001164051.1 Q5VTY9 HHAT_HUMAN hedgehog acyltransferase 226 multicellular organismal development endoplasmic reticulum membrane|integral to membrane GTP binding breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215) CGGAGTTCATCAAACAGGTAG 0.498000 22 31 0 0 1 0 0 PCGF1 84759 broad.mit.edu 37 2 74734008 74734008 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:74734008C>T ENST00000233630.6 - 3 1114 c.203G>A c.(202-204)tGc>tAc p.C68Y PCGF1_ENST00000480844.2_5'UTR NM_032673.2 NP_116062.2 Q9BSM1 PCGF1_HUMAN polycomb group ring finger 1 68 No repressor activity. histone H2A monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent PcG protein complex protein C-terminus binding|zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2) 12 ACAACTCTTGCAGACTGCAGG 0.522000 38 33 0 0 1 0 0 ZNF136 7695 broad.mit.edu 37 19 12298526 12298526 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:12298526G>A ENST00000343979.4 + 4 1473 c.1333G>A c.(1333-1335)Gag>Aag p.E445K ZNF136_ENST00000398616.2_Missense_Mutation_p.E379K NM_003437.3 NP_003428.1 P52737 ZN136_HUMAN zinc finger protein 136 445 negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|transcription corepressor activity|zinc ion binding NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 18 TCATACTGGAGAGAAACCCTA 0.383000 15 31 0 0 1 0 0 SETD1A 9739 broad.mit.edu 37 16 30976085 30976085 + Missense_Mutation SNP C C T rs138671480 byFrequency TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:30976085C>T ENST00000262519.8 + 7 1708 c.1022C>T c.(1021-1023)tCc>tTc p.S341F NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 341 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 tccgcctcttcctcctcattg 0.572000 65 90 0 0 1 0 0 DOCK1 1793 broad.mit.edu 37 10 128923778 128923778 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr10:128923778C>T ENST00000280333.6 + 26 2710 c.2601C>T c.(2599-2601)ctC>ctT p.L867L NM_001380.3 NP_001371.1 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 867 apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 72 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) CCGATCAGCTCAAGTACCATC 0.552000 14 7 0 0 1 0 0 TRAV13-2 28670 broad.mit.edu 37 14 22386707 22386707 + RNA SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr14:22386707C>G ENST00000390439.2 + 0 186 GGTGACAACTCTATTATCAAC 0.443000 14 22 0 0 1 0 0 TBC1D13 54662 broad.mit.edu 37 9 131566275 131566275 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:131566275C>T ENST00000372648.5 + 9 945 c.795C>T c.(793-795)ctC>ctT p.L265L TBC1D13_ENST00000539497.1_Silent_p.L84L|TBC1D13_ENST00000223865.8_Intron NM_018201.3 NP_060671.3 Q9NVG8 TBC13_HUMAN TBC1 domain family, member 13 265 Rab-GAP TBC. intracellular Rab GTPase activator activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 6 TCACCAACCTCATGGCCGAGA 0.562000 28 65 0 0 1 0 0 UHRF1 29128 broad.mit.edu 37 19 4944429 4944429 + RNA SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:4944429C>T ENST00000592666.1 + 0 1848 Q96T88 UHRF1_HUMAN ubiquitin-like with PHD and ring finger domains 1 cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter nucleus acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2) 16 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276) TCCCGGGGATCCCCGTGGGCA 0.647000 24 42 0 0 1 0 0 TMEM249 340393 broad.mit.edu 37 8 145579212 145579212 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr8:145579212G>A ENST00000531225.1 - 1 57 c.58C>T c.(58-60)Cac>Tac p.H20Y FBXL6_ENST00000526524.1_5'UTR|FBXL6_ENST00000331890.5_Silent_p.L533L|FBXL6_ENST00000455319.2_Silent_p.L527L transmembrane protein 249 AGGGGCTGGTGAGCAGCTGCT 0.612000 37 64 0 0 1 0 0 DMTF1 9988 broad.mit.edu 37 7 86823347 86823347 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr7:86823347G>C ENST00000414194.2 + 16 2951 c.1159G>C c.(1159-1161)Gaa>Caa p.E387Q DMTF1_ENST00000432937.2_Missense_Mutation_p.E565Q|DMTF1_ENST00000331242.7_Missense_Mutation_p.E653Q|DMTF1_ENST00000394703.5_Missense_Mutation_p.E653Q|DMTF1_ENST00000413276.2_Missense_Mutation_p.E583Q Q9Y222 DMTF1_HUMAN cyclin D binding myb-like transcription factor 1 653 Interaction with CCND1, CCND2 and CCND3 (By similarity).|Myb-like 2.|Required for DNA-binding (By similarity). cell cycle cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1) 16 Esophageal squamous(14;0.0058) CAGAACAGAAGAAGAAATCTC 0.383000 53 45 0 0 1 0 0 SCRIB 23513 broad.mit.edu 37 8 144897496 144897496 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr8:144897496G>A ENST00000356994.2 - 1 53 c.47C>T c.(46-48)tCg>tTg p.S16L SCRIB_ENST00000320476.3_Missense_Mutation_p.S16L NM_182706.4 NP_874365 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 16 Sufficient for targeting to adherens junction and to inhibit cell proliferation. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) CTTGTCCACCGACTCCACGTG 0.731000 6 14 0 0 1 0 0 ABLIM3 22885 broad.mit.edu 37 5 148563061 148563061 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr5:148563061C>T ENST00000506113.1 + 2 542 c.60C>T c.(58-60)gtC>gtT p.V20V RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000504238.1_Silent_p.V20V|ABLIM3_ENST00000326685.7_Silent_p.V20V|ABLIM3_ENST00000356541.3_Silent_p.V20V|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000508983.1_Silent_p.V20V|ABLIM3_ENST00000309868.7_Silent_p.V20V O94929 ABLM3_HUMAN actin binding LIM protein family, member 3 20 axon guidance|cytoskeleton organization cytoplasm actin binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTCCAATGTCATCCAGTGCT 0.498000 20 35 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70841605 70841605 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:70841605C>T ENST00000393567.2 - 86 15394 c.15244G>A c.(15244-15246)Gaa>Aaa p.E5082K NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 5082 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) GGGTTTCCTTCAAAGGAGACT 0.517000 17 82 0 0 1 0 0 NRN1L 123904 broad.mit.edu 37 16 67919692 67919692 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:67919692C>T ENST00000339176.3 + 2 246 c.147C>T c.(145-147)ttC>ttT p.F49F NRN1L_ENST00000576147.1_5'UTR|CTC-479C5.10_ENST00000572067.1_lincRNA NM_198443.1 NP_940845.1 Q496H8 NRN1L_HUMAN neuritin 1-like 49 anchored to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2) 7 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119) ACCAGGGCTTCGCCGAGTGTC 0.652000 5 88 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38746205 38746205 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:38746205C>G ENST00000359357.3 + 12 1607 c.1353C>G c.(1351-1353)atC>atG p.I451M DNAH8_ENST00000449981.2_Missense_Mutation_p.I668M|DNAH8_ENST00000441566.1_Missense_Mutation_p.I451M dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TTGGGAAAATCTTATCTTCTC 0.289000 14 40 0 0 1 0 0 SLC3A2 6520 broad.mit.edu 37 11 62652683 62652683 + Nonsense_Mutation SNP C C T rs147281603 TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:62652683C>T ENST00000377892.1 + 10 1473 c.1249C>T c.(1249-1251)Cag>Tag p.Q417* SLC3A2_ENST00000536981.1_5'UTR|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000535296.1_Nonsense_Mutation_p.Q355*|SLC3A2_ENST00000338663.7_Nonsense_Mutation_p.Q285*|SLC3A2_ENST00000377889.2_Nonsense_Mutation_p.Q324*|SLC3A2_ENST00000377891.2_Nonsense_Mutation_p.Q387*|SLC3A2_ENST00000377890.2_Nonsense_Mutation_p.Q386* P08195 4F2_HUMAN solute carrier family 3 (amino acid transporter heavy chain), member 2 386 blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport apical plasma membrane|cell surface|integral to membrane|melanosome calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2) 22 CTCCGACCTTCAGCAGATCCT 0.522000 41 60 0 0 1 0 0 CLDN25 644672 broad.mit.edu 37 11 113650715 113650715 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:113650715C>T ENST00000453129.2 + 1 247 c.198C>T c.(196-198)gcC>gcT p.A66A NM_001101389.1 NP_001094859.1 C9JDP6 CLD25_HUMAN claudin 25 66 integral to membrane|tight junction structural molecule activity large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2) 10 TGTGCAAGGCCTTTGAATCCT 0.562000 51 57 0 0 1 0 0 ATP5A1 498 broad.mit.edu 37 18 43667111 43667111 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr18:43667111G>A ENST00000593152.2 - 8 1428 c.889C>T c.(889-891)Cgg>Tgg p.R297W ATP5A1_ENST00000282050.2_Missense_Mutation_p.R347W|ATP5A1_ENST00000590665.1_Missense_Mutation_p.R325W|ATP5A1_ENST00000398752.6_Missense_Mutation_p.R347W NM_001257335.1 NP_001244264.1 P25705 ATPA_HUMAN ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle 347 ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain mitochondrial matrix|plasma membrane ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1) 22 TCCAGCAACCGGGAGTGTAGG 0.527000 23 55 0 0 1 0 0 OSBPL3 26031 broad.mit.edu 37 7 24903175 24903175 + Silent SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr7:24903175G>C ENST00000313367.2 - 8 1168 c.717C>G c.(715-717)ctC>ctG p.L239L OSBPL3_ENST00000396429.1_Silent_p.L239L|OSBPL3_ENST00000431825.2_Silent_p.L239L|OSBPL3_ENST00000353930.1_Silent_p.L239L|OSBPL3_ENST00000396431.1_Silent_p.L239L|OSBPL3_ENST00000352860.1_Silent_p.L239L|OSBPL3_ENST00000409069.1_Silent_p.L239L NM_015550.2 NP_056365.1 Q9H4L5 OSBL3_HUMAN oxysterol binding protein-like 3 239 lipid transport lipid binding|protein binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1) 43 TGCTTTGCAGGAGCTGGCTCA 0.552000 52 55 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11554453 11554453 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:11554453C>T ENST00000262442.4 + 13 2233 c.2165C>T c.(2164-2166)gCa>gTa p.A722V DNAH9_ENST00000454412.2_Missense_Mutation_p.A722V NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.A722G(1) NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CCTGAGACAGCAGCAGCCATG 0.448000 82 44 0 0 1 0 0 POLR3E 55718 broad.mit.edu 37 16 22337394 22337394 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:22337394C>T ENST00000299853.5 + 18 1828 c.1661C>T c.(1660-1662)gCc>gTc p.A554V POLR3E_ENST00000359210.4_Missense_Mutation_p.A554V|POLR3E_ENST00000564209.1_Missense_Mutation_p.A554V|POLR3E_ENST00000418581.2_Missense_Mutation_p.A518V NM_001258033.1|NM_001258035.1|NM_018119.3 NP_001244962.1|NP_001244964.1|NP_060589.1 Q9NVU0 RPC5_HUMAN polymerase (RNA) III (DNA directed) polypeptide E (80kD) 554 innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA-directed RNA polymerase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GBM - Glioblastoma multiforme(48;0.012) CAGGGCTGCGCCAGCACCCCT 0.657000 8 42 0 0 1 0 0 TDRD6 221400 broad.mit.edu 37 6 46661436 46661436 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:46661436G>A ENST00000544460.1 + 1 5825 c.5571G>A c.(5569-5571)caG>caA p.Q1857Q TDRD6_ENST00000316081.6_Silent_p.Q1857Q NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 1857 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) TTGAGTTACAGAATTCTCTGG 0.448000 16 51 0 0 1 0 0 KBTBD4 55709 broad.mit.edu 37 11 47599018 47599018 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:47599018C>T ENST00000533290.1 - 1 1323 c.609G>A c.(607-609)caG>caA p.Q203Q KBTBD4_ENST00000430070.2_Silent_p.Q194Q|KBTBD4_ENST00000526005.1_Silent_p.Q178Q|KBTBD4_ENST00000525720.1_Silent_p.Q227Q|KBTBD4_ENST00000395288.2_Silent_p.Q178Q|NDUFS3_ENST00000533507.1_Intron Q9NVX7 KBTB4_HUMAN kelch repeat and BTB (POZ) domain containing 4 178 BACK. NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 24 CCTCTGTATTCTGCAGCTGGG 0.537000 35 111 0 0 1 0 0 TMEM216 51259 broad.mit.edu 37 11 61165262 61165262 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:61165262C>T ENST00000515837.2 + 4 1191 c.246C>T c.(244-246)ctC>ctT p.L82L TMEM216_ENST00000334888.5_Silent_p.L82L|TMEM216_ENST00000398979.3_Silent_p.L21L Q9P0N5 TM216_HUMAN transmembrane protein 216 75 integral to membrane endometrium(1)|large_intestine(2)|lung(1)|prostate(2) 6 AGGGAAACCTCTGCCAGCGAA 0.552000 18 75 0 0 1 0 0 DCAF16 54876 broad.mit.edu 37 4 17805577 17805577 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr4:17805577G>A ENST00000382247.1 - 3 1248 c.188C>T c.(187-189)tCc>tTc p.S63F DCAF16_ENST00000536863.1_Missense_Mutation_p.S63F NM_017741.3 NP_060211.3 Q9NXF7 DCA16_HUMAN DDB1 and CUL4 associated factor 16 63 CUL4 RING ubiquitin ligase complex cervix(1)|endometrium(1)|lung(2)|ovary(1) 5 CCAAGTTGTGGAATATTTTAA 0.438000 18 76 0 0 1 0 0 COG2 22796 broad.mit.edu 37 1 230822834 230822834 + Nonsense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:230822834C>T ENST00000534989.1 + 13 1692 c.1357C>T c.(1357-1359)Cag>Tag p.Q453* COG2_ENST00000546013.1_Nonsense_Mutation_p.Q201*|COG2_ENST00000366668.3_Nonsense_Mutation_p.Q512*|COG2_ENST00000535166.1_Nonsense_Mutation_p.Q396*|COG2_ENST00000366669.4_Nonsense_Mutation_p.Q512* Q14746 COG2_HUMAN component of oligomeric golgi complex 2 512 Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation Golgi membrane|Golgi stack|Golgi transport complex protein binding|protein transporter activity NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3) 27 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) TTCCCGCACTCAGCTCGTGTA 0.488000 9 42 0 0 1 0 0 COMT 1312 broad.mit.edu 37 22 19951112 19951112 + Nonsense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr22:19951112C>T ENST00000361682.6 + 4 695 c.313C>T c.(313-315)Cag>Tag p.Q105* COMT_ENST00000403184.1_Nonsense_Mutation_p.Q105*|COMT_ENST00000449653.1_Nonsense_Mutation_p.Q55*|COMT_ENST00000403710.1_Nonsense_Mutation_p.Q105*|COMT_ENST00000406520.3_Nonsense_Mutation_p.Q105*|COMT_ENST00000493893.1_3'UTR|COMT_ENST00000407537.1_Nonsense_Mutation_p.Q55* NM_000754.3 NP_000745.1 P21964 COMT_HUMAN catechol-O-methyltransferase 105 neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction catechol O-methyltransferase activity|magnesium ion binding|protein binding kidney(1)|lung(1)|ovary(1)|prostate(1)|stomach(1) 5 Colorectal(54;0.0993) Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323) CGCCGTGATTCAGGAGCACCA 0.667000 17 44 0 0 1 0 0 ZNF565 147929 broad.mit.edu 37 19 36673472 36673472 + Nonsense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:36673472G>A ENST00000355114.5 - 5 2242 c.1516C>T c.(1516-1518)Cag>Tag p.Q506* ZNF565_ENST00000304116.5_Nonsense_Mutation_p.Q466*|ZNF565_ENST00000392173.2_Nonsense_Mutation_p.Q466* Q8N9K5 ZN565_HUMAN zinc finger protein 565 466 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(4)|lung(4)|ovary(1)|skin(2) 11 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.206) TGAATTCTCTGATGTTCGGTA 0.423000 13 36 0 0 1 0 0 SAFB 6294 broad.mit.edu 37 19 5657277 5657277 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:5657277C>T ENST00000292123.5 + 14 1888 c.1781C>T c.(1780-1782)tCa>tTa p.S594L SAFB_ENST00000538656.1_Missense_Mutation_p.S437L|SAFB_ENST00000454510.1_Missense_Mutation_p.S525L|SAFB_ENST00000433404.1_Missense_Mutation_p.S424L|SAFB_ENST00000592224.1_Missense_Mutation_p.S594L|SAFB_ENST00000588852.1_Missense_Mutation_p.S594L NM_001201338.1|NM_001201339.1|NM_002967.3 NP_001188267.1|NP_001188268.1|NP_002958.2 Q15424 SAFB1_HUMAN scaffold attachment factor B 594 Interaction with POLR2A. chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1) 23 UCEC - Uterine corpus endometrioid carcinoma (162;0.000222) GATCGCAAATCAGCCAGCAGA 0.498000 12 29 0 0 1 0 0 C1QTNF3-AMACR 100534612 broad.mit.edu 37 5 34033411 34033411 + Nonsense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr5:34033411G>A ENST00000382079.3 - 3 375 c.301C>T c.(301-303)Cag>Tag p.Q101* C1QTNF3_ENST00000382065.3_Nonsense_Mutation_p.Q190*|C1QTNF3_ENST00000231338.7_Nonsense_Mutation_p.Q117*|C1QTNF3_ENST00000513065.1_5'UTR 117 TGGTTTACCTGAAGTTCTGGT 0.597000 15 13 0 0 1 0 0 CACNA1H 8912 broad.mit.edu 37 16 1255117 1255117 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:1255117G>A ENST00000348261.5 + 11 2703 c.2455G>A c.(2455-2457)Gag>Aag p.E819K CACNA1H_ENST00000565831.1_Missense_Mutation_p.E819K|CACNA1H_ENST00000358590.4_Missense_Mutation_p.E819K NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 819 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) CCTGCAGCCCGAGGAGCTGAC 0.657000 16 30 0 0 1 0 0 TSSK4 283629 broad.mit.edu 37 14 24677184 24677184 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr14:24677184G>A ENST00000339917.5 + 4 1053 c.849G>A c.(847-849)caG>caA p.Q283Q TSSK4_ENST00000287913.6_Silent_p.Q273Q|TSSK4_ENST00000556621.1_Silent_p.Q197Q|TSSK4_ENST00000428351.2_Silent_p.Q80Q|TM9SF1_ENST00000530611.1_Intron|TM9SF1_ENST00000556387.1_Intron NM_001184739.1|NM_174944.3 NP_001171668.1|NP_777604.2 Q6SA08 TSSK4_HUMAN testis-specific serine kinase 4 273 Protein kinase. cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|spermatogenesis ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2) 8 GBM - Glioblastoma multiforme(265;0.018) TGATCCTCCAGATGCTACGCC 0.527000 21 32 0 0 1 0 0 IL17RB 55540 broad.mit.edu 37 3 53883693 53883693 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:53883693G>C ENST00000288167.3 + 3 106 c.97G>C c.(97-99)Gag>Cag p.E33Q NM_018725.3 NP_061195.2 Q9NRM6 I17RB_HUMAN interleukin 17 receptor B 33 defense response|regulation of cell growth extracellular region|integral to plasma membrane cytokine receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1) 13 BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118) GCCATCTCCAGAGTGGATGCT 0.488000 44 80 0 0 1 0 0 PLEKHA6 22874 broad.mit.edu 37 1 204226578 204226578 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:204226578G>A ENST00000272203.3 - 9 1743 c.1427C>T c.(1426-1428)tCa>tTa p.S476L PLEKHA6_ENST00000414478.1_Missense_Mutation_p.S496L NM_014935.4 NP_055750.2 Q9Y2H5 PKHA6_HUMAN pleckstrin homology domain containing, family A member 6 476 breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) GGCACTGGGTGAGCGGACAGG 0.657000 3 5 0 0 1 0 0 NDUFB4 4710 broad.mit.edu 37 3 120315260 120315260 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:120315260C>T ENST00000485064.1 + 1 86 c.54C>T c.(52-54)ctC>ctT p.L18L NDUFB4_ENST00000184266.2_Silent_p.L18L|NDUFB4_ENST00000492739.1_Silent_p.L18L NM_001168331.1 NP_001161803.1 O95168 NDUB4_HUMAN NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa 18 mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(1)|large_intestine(1)|lung(3) 5 GBM - Glioblastoma multiforme(114;0.14) NADH(DB00157) CTGAGACCCTCGACCCAGCCG 0.587000 17 31 0 0 1 0 0 AK3 50808 broad.mit.edu 37 9 4718472 4718472 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:4718472G>A ENST00000381809.3 - 4 740 c.510C>T c.(508-510)atC>atT p.I170I AK3_ENST00000447596.4_Silent_p.I130I|AK3_ENST00000359883.2_Silent_p.I100I NM_016282.3 NP_057366.2 Q9UIJ7 KAD3_HUMAN adenylate kinase 3 170 blood coagulation mitochondrial matrix ATP binding|GTP binding|nucleoside triphosphate adenylate kinase activity large_intestine(2)|lung(1)|ovary(2) 5 all_hematologic(13;0.137) Breast(48;0.238) GBM - Glioblastoma multiforme(50;0.0302) TTAGTCTCTTGATAACCGTCT 0.433000 24 39 0 0 1 0 0 PFKL 5211 broad.mit.edu 37 21 45736388 45736388 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr21:45736388C>T ENST00000403390.1 + 10 1058 c.1058C>T c.(1057-1059)tCt>tTt p.S353F PFKL_ENST00000349048.4_Missense_Mutation_p.S306F P17858 K6PL_HUMAN phosphofructokinase, liver 306 fructose 6-phosphate metabolic process|glycolysis|protein oligomerization 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Colorectal(79;0.0811) GGGACGCCCTCTGCCTTCGAC 0.657000 27 18 0 0 1 0 0 POGK 57645 broad.mit.edu 37 1 166818540 166818540 + Nonsense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:166818540C>T ENST00000367875.1 + 5 1084 c.724C>T c.(724-726)Caa>Taa p.Q242* POGK_ENST00000536514.1_Nonsense_Mutation_p.Q157*|POGK_ENST00000537173.1_Nonsense_Mutation_p.Q124*|POGK_ENST00000367876.4_Nonsense_Mutation_p.Q242* Q9P215 POGK_HUMAN pogo transposable element with KRAB domain 242 multicellular organismal development|regulation of transcription, DNA-dependent nucleus DNA binding endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 22 GCCACAGCTTCAAAACGCCCA 0.542000 33 37 0 0 1 0 0 PYGM 5837 broad.mit.edu 37 11 64518837 64518837 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:64518837G>A ENST00000164139.3 - 16 2327 c.1929C>T c.(1927-1929)gtC>gtT p.V643V PYGM_ENST00000377432.3_Silent_p.V555V|PYGM_ENST00000462303.1_5'UTR NM_005609.2 NP_005600.1 P11217 PYGM_HUMAN phosphorylase, glycogen, muscle 643 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Pyridoxal Phosphate(DB00114) CCAGGAAGATGACACGGAGGC 0.582000 47 31 0 0 1 0 0 TTYH2 94015 broad.mit.edu 37 17 72246433 72246433 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:72246433G>A ENST00000441391.2 + 4 1302 c.90G>A c.(88-90)ctG>ctA p.L30L TTYH2_ENST00000269346.4_Silent_p.L351L|TTYH2_ENST00000529107.1_Silent_p.L330L NM_052869.1 NP_443101.1 Q9BSA4 TTYH2_HUMAN tweety family member 2 351 chloride channel complex|plasma membrane chloride channel activity|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1) 36 AGCTCCTGCTGAACTCCTCAG 0.622000 7 23 0 0 1 0 0 C1orf174 339448 broad.mit.edu 37 1 3807144 3807144 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:3807144C>G ENST00000361605.3 - 3 705 c.607G>C c.(607-609)Gag>Cag p.E203Q C1orf174_ENST00000486765.1_5'UTR NM_207356.2 NP_997239.2 Q8IYL3 CA174_HUMAN chromosome 1 open reading frame 174 203 endometrium(1)|large_intestine(5)|lung(4)|prostate(1) 11 all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227) all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127) Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19) TGCATGAGCTCAACGTTTCCA 0.542000 23 45 0 0 1 0 0 ZEB1 6935 broad.mit.edu 37 10 31812998 31812998 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr10:31812998C>T ENST00000446923.2 + 8 3082 c.2691C>T c.(2689-2691)ttC>ttT p.F897F ZEB1_ENST00000542815.3_Silent_p.F846F|ZEB1_ENST00000560721.2_Silent_p.F893F|ZEB1_ENST00000320985.10_Silent_p.F913F|ZEB1_ENST00000361642.5_Silent_p.F914F NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 913 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) ACAAGATATTCCAAAAGAGTA 0.358000 25 55 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21826373 21826373 + Silent SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr7:21826373C>G ENST00000328843.6 + 60 9781 c.9750C>G c.(9748-9750)gtC>gtG p.V3250V DNAH11_ENST00000409508.3_Silent_p.V3243V Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3250 Stalk (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 CAGCTAAAGTCTTCATGGGAA 0.463000 Kartagener syndrome 97 77 0 0 1 0 0 ACTN4 81 broad.mit.edu 37 19 39208572 39208572 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:39208572C>T ENST00000252699.2 + 11 1225 c.1149C>T c.(1147-1149)atC>atT p.I383I ACTN4_ENST00000390009.3_Silent_p.I164I|ACTN4_ENST00000424234.2_Intron NM_004924.4 NP_004915.2 O43707 ACTN4_HUMAN actinin, alpha 4 383 platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3) 30 all_cancers(60;1.57e-05)|Ovarian(47;0.103) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) CCCAGGACATCAACAATGGCT 0.612000 6 10 0 0 1 0 0 GLUD1 2746 broad.mit.edu 37 10 88818908 88818908 + Splice_Site SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr10:88818908G>A ENST00000277865.4 - 10 1497 c.1401C>T c.(1399-1401)ctC>ctT p.L467L GLUD1_ENST00000544149.1_Splice_Site_p.L334L|GLUD1_ENST00000537649.1_Splice_Site_p.L300L NM_005271.3 NP_005262.1 P00367 DHE3_HUMAN glutamate dehydrogenase 1 467 glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion mitochondrial matrix ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1) 22 L-Glutamic Acid(DB00142)|NADH(DB00157) GATACTCACTGAGCAAGTGGT 0.408000 46 52 0 0 1 0 0 ZBTB48 3104 broad.mit.edu 37 1 6640684 6640684 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:6640684C>T ENST00000377674.4 + 2 173 c.15C>T c.(13-15)ttC>ttT p.F5F NM_001278647.1|NM_001278648.1|NM_005341.2 NP_001265576.1|NP_001265577.1|NP_005332.1 P10074 ZBT48_HUMAN zinc finger and BTB domain containing 48 5 cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 11 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642) ACGGCTCCTTCGTCCAGCACA 0.612000 27 33 0 0 1 0 0 GGA2 23062 broad.mit.edu 37 16 23499958 23499958 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:23499958G>A ENST00000309859.4 - 6 630 c.548C>T c.(547-549)tCc>tTc p.S183F GGA2_ENST00000567468.1_Missense_Mutation_p.S183F NM_015044.4 NP_055859.1 Q9UJY4 GGA2_HUMAN golgi-associated, gamma adaptin ear containing, ARF binding protein 2 183 intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network ADP-ribosylation factor binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1) 21 GBM - Glioblastoma multiforme(48;0.0386) ATCAAAGATGGAGCTCTTGGG 0.408000 35 68 0 0 1 0 0 CCT4 10575 broad.mit.edu 37 2 62103250 62103250 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:62103250G>A ENST00000394440.3 - 8 1193 c.897C>T c.(895-897)ctC>ctT p.L299L CCT4_ENST00000544079.1_Silent_p.L269L|CCT4_ENST00000544185.1_Silent_p.L149L|CCT4_ENST00000538252.1_Silent_p.L243L|CCT4_ENST00000461540.2_5'UTR|AC107081.5_ENST00000425779.1_RNA NM_006430.3 NP_006421.2 P50991 TCPD_HUMAN chaperonin containing TCP1, subunit 4 (delta) 299 'de novo' posttranslational protein folding melanosome|microtubule organizing center|nucleus ATP binding|unfolded protein binding breast(1)|large_intestine(2)|lung(6)|ovary(2) 11 Lung NSC(7;0.035)|all_lung(7;0.0691) LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221) ATTTCTGTATGAGAAGGACAT 0.338000 17 37 0 0 1 0 0 NADK 65220 broad.mit.edu 37 1 1696732 1696732 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:1696732G>A ENST00000344463.4 - 2 335 c.114C>T c.(112-114)atC>atT p.I38I NADK_ENST00000378625.1_Silent_p.I38I|NADK_ENST00000341991.3_Silent_p.I38I|NADK_ENST00000341426.5_Silent_p.I38I|NADK_ENST00000492768.1_5'UTR O95544 NADK_HUMAN NAD kinase 38 ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process cytosol ATP binding|metal ion binding|NAD+ kinase activity|protein binding NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1) 17 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207) CCCGGCCCCGGATGGGGTGGT 0.572000 36 53 0 0 1 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102292785 102292785 + RNA SNP C C G rs61084368 TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr15:102292785C>G ENST00000561463.1 + 0 831 p.Q125E(1) TGCTGCTTCTCAGAGCTGCTG 0.602000 3 22 0 0 1 0 0 HNRNPD 3184 broad.mit.edu 37 4 83278012 83278012 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr4:83278012G>C ENST00000313899.7 - 6 1067 c.790C>G c.(790-792)Cag>Gag p.Q264E HNRNPD_ENST00000508119.1_5'UTR|HNRNPD_ENST00000543098.1_Missense_Mutation_p.Q212E|HNRNPD_ENST00000352301.4_Missense_Mutation_p.Q245E|HNRNPD_ENST00000541060.1_Missense_Mutation_p.Q110E|HNRNPD_ENST00000353341.4_Missense_Mutation_p.Q264E NM_031370.2 NP_112738.1 Q14103 HNRPD_HUMAN heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa) 264 nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|telomeric DNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1) 7 TGCTGTTGCTGATATTGTTCC 0.368000 86 143 0 0 1 0 0 GLIS3 169792 broad.mit.edu 37 9 3879436 3879436 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:3879436C>T ENST00000324333.10 - 7 2016 c.1823G>A c.(1822-1824)gGa>gAa p.G608E GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Missense_Mutation_p.G763E NM_152629.3 NP_689842.3 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 608 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) CCTCTCAGCTCCTGCGTCCAC 0.532000 45 59 0 0 1 0 0 SMC1B 27127 broad.mit.edu 37 22 45755816 45755816 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr22:45755816C>G ENST00000357450.4 - 18 2730 c.2731G>C c.(2731-2733)Gaa>Caa p.E911Q SMC1B_ENST00000404354.3_Missense_Mutation_p.E911Q NM_148674.3 NP_683515.3 Q8NDV3 SMC1B_HUMAN structural maintenance of chromosomes 1B 911 chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) CTTACAACTTCTTTTTGCAAT 0.338000 4 29 0 0 1 0 0 HELZ2 85441 broad.mit.edu 37 20 62194406 62194406 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr20:62194406G>A ENST00000467148.1 - 8 5838 c.5769C>T c.(5767-5769)ttC>ttT p.F1923F HELZ2_ENST00000427522.2_Silent_p.F1354F NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator CACGGCCTGAGAAGCAGTCTC 0.697000 7 11 0 0 1 0 0 GEMIN2 8487 broad.mit.edu 37 14 39597505 39597505 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr14:39597505G>C ENST00000308317.6 + 7 669 c.586G>C c.(586-588)Gaa>Caa p.E196Q GEMIN2_ENST00000250379.8_Missense_Mutation_p.E181Q|GEMIN2_ENST00000396249.2_Missense_Mutation_p.E196Q NM_003616.2 NP_003607.1 O14893 GEMI2_HUMAN gem (nuclear organelle) associated protein 2 196 ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly Cajal body|cytosol|spliceosomal complex protein binding TAGTGTCTTGGAATATCTGAG 0.313000 21 37 0 0 1 0 0 PMS2 5395 broad.mit.edu 37 7 6048631 6048631 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr7:6048631G>A ENST00000265849.7 - 1 125 c.20C>T c.(19-21)tCg>tTg p.S7L PMS2_ENST00000406569.3_Missense_Mutation_p.S7L|PMS2_ENST00000469652.1_5'UTR|PMS2_ENST00000382321.4_Missense_Mutation_p.S7L NM_000535.5 NP_000526 P54278 PMS2_HUMAN PMS2 postmeiotic segregation increased 2 (S. cerevisiae) 7 mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes MutLalpha complex ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15) CGCTCACCTCGAGCTCTCAGC 0.657000 """Mis, N, F""" """colorectal, endometrial, ovarian, medulloblastoma, glioma""" Direct reversal of damage;Mismatch excision repair (MMR) Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 58 59 0 0 1 0 0 ZNF577 84765 broad.mit.edu 37 19 52376322 52376322 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:52376322G>C ENST00000420592.1 - 6 2077 c.744C>G c.(742-744)ttC>ttG p.F248L ZNF577_ENST00000451628.2_Missense_Mutation_p.F248L|ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000301399.5_Missense_Mutation_p.F307L Q9BSK1 ZN577_HUMAN zinc finger protein 577 307 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019) ACTTAAAATAGAAGGTTCTTC 0.433000 37 92 0 0 1 0 0 FGD5 152273 broad.mit.edu 37 3 14862489 14862489 + Silent SNP G G T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:14862489G>T ENST00000285046.5 + 1 2021 c.1911G>T c.(1909-1911)ctG>ctT p.L637L FGD5_ENST00000543601.1_Silent_p.L396L NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 637 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 CCTCACTCCTGATCGAGAGCG 0.532000 36 70 3.33393e-15 3.4474e-15 1 1 0 ZNF208 7757 broad.mit.edu 37 19 22157006 22157006 + Missense_Mutation SNP A A C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:22157006A>C ENST00000397126.4 - 4 978 c.830T>G c.(829-831)aTa>aGa p.I277R ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) AGTATGAATTATCTTATGTTT 0.373000 14 30 0 0 1 0 0 TSPAN33 340348 broad.mit.edu 37 7 128802296 128802296 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr7:128802296C>T ENST00000289407.4 + 3 331 c.222C>T c.(220-222)ctC>ctT p.L74L NM_178562.3 NP_848657.1 Q86UF1 TSN33_HUMAN tetraspanin 33 74 integral to membrane NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 14 TGGGTGTCCTCATGTTCCTGC 0.632000 28 24 0 0 1 0 0 ARHGAP12 94134 broad.mit.edu 37 10 32109375 32109375 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr10:32109375G>A ENST00000375250.5 - 10 1723 c.1482C>T c.(1480-1482)ctC>ctT p.L494L ARHGAP12_ENST00000311380.4_Silent_p.L472L|ARHGAP12_ENST00000396144.4_Silent_p.L519L|ARHGAP12_ENST00000492028.1_5'UTR|ARHGAP12_ENST00000375245.4_Silent_p.L472L|ARHGAP12_ENST00000344936.2_Silent_p.L524L NM_001270696.1|NM_001270698.1 NP_001257625.1|NP_001257627.1 Q8IWW6 RHG12_HUMAN Rho GTPase activating protein 12 524 PH. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2) 31 Prostate(175;0.0199) TTGCCCCCTTGAGGTCCACTG 0.333000 19 26 0 0 1 0 0 KIAA0247 9766 broad.mit.edu 37 14 70170135 70170135 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr14:70170135G>A ENST00000342745.4 + 3 458 c.145G>A c.(145-147)Gag>Aag p.E49K NM_014734.3 NP_055549.1 Q92537 K0247_HUMAN KIAA0247 49 Sushi. integral to membrane endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1) 10 all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196) ACCGGAGCCAGAGAATGGTGG 0.587000 48 102 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 39034176 39034176 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:39034176C>G ENST00000355481.4 + 85 11899 c.11768C>G c.(11767-11769)tCc>tGc p.S3923C RYR1_ENST00000359596.3_Missense_Mutation_p.S3928C|RYR1_ENST00000360985.3_Missense_Mutation_p.S3923C NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 3928 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CACCAGGAATCCATCAGCGAC 0.602000 20 42 0 0 1 0 0 MBTPS1 8720 broad.mit.edu 37 16 84088150 84088150 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:84088150G>A ENST00000343411.3 - 23 3558 c.3063C>T c.(3061-3063)atC>atT p.I1021I NM_003791.2 NP_003782.1 Q14703 MBTP1_HUMAN membrane-bound transcription factor peptidase, site 1 1021 cholesterol metabolic process|proteolysis endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 TGGCCTTGTTGATTTGTACCA 0.612000 8 41 0 0 1 0 0 DIS3L 115752 broad.mit.edu 37 15 66615076 66615076 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr15:66615076G>C ENST00000319194.5 + 10 1390 c.1129G>C c.(1129-1131)Gaa>Caa p.E377Q DIS3L_ENST00000441424.2_3'UTR|RP11-352G18.2_ENST00000565993.1_RNA|DIS3L_ENST00000319212.4_Missense_Mutation_p.E460Q NM_133375.3 NP_588616.1 Q8TF46 DI3L1_HUMAN DIS3 mitotic control homolog (S. cerevisiae)-like 460 rRNA catabolic process cytoplasm|exosome (RNase complex) exonuclease activity|protein binding|ribonuclease activity|RNA binding breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 GGTGAGTCCTGAAGAGGAACA 0.428000 22 39 0 0 1 0 0 GOLGA2 2801 broad.mit.edu 37 9 131025344 131025344 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:131025344C>T ENST00000421699.2 - 12 892 c.880G>A c.(880-882)Gac>Aac p.D294N GOLGA2_ENST00000609374.1_Missense_Mutation_p.D282N NM_004486.4 NP_004477.3 Q08379 GOGA2_HUMAN golgin A2 294 Golgi cisterna membrane protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 CTGAGGGCGTCTCTCTCTTTG 0.537000 30 55 0 0 1 0 0 MTIF2 4528 broad.mit.edu 37 2 55473552 55473552 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:55473552C>G ENST00000394600.3 - 11 1763 c.1027G>C c.(1027-1029)Gaa>Caa p.E343Q MTIF2_ENST00000263629.4_Missense_Mutation_p.E343Q|MTIF2_ENST00000403721.1_Missense_Mutation_p.E343Q NM_001005369.1 NP_001005369.1 P46199 IF2M_HUMAN mitochondrial translational initiation factor 2 343 regulation of translational initiation mitochondrion GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 24 TCTAACATTTCTGCAAGAGCA 0.368000 43 70 0 0 1 0 0 WNT5A 7474 broad.mit.edu 37 3 55508420 55508420 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:55508420G>A ENST00000474267.1 - 5 1150 c.629C>T c.(628-630)tCc>tTc p.S210F WNT5A_ENST00000264634.4_Missense_Mutation_p.S210F|WNT5A_ENST00000497027.1_Missense_Mutation_p.S195F P41221 WNT5A_HUMAN wingless-type MMTV integration site family, member 5A 210 activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204) ACTCTCGTAGGAGCCCTTGGC 0.662000 12 29 0 0 1 0 0 GAD1 2571 broad.mit.edu 37 2 171710424 171710424 + Silent SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:171710424C>G ENST00000358196.3 + 14 1855 c.1305C>G c.(1303-1305)ctC>ctG p.L435L NM_000817.2 NP_000808.2 Q99259 DCE1_HUMAN glutamate decarboxylase 1 (brain, 67kDa) 435 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2) 35 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) CAGGATACCTCTTCCAGCCAG 0.493000 64 34 0 0 1 0 0 POLDIP3 84271 broad.mit.edu 37 22 42991566 42991566 + Nonsense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr22:42991566G>A ENST00000252115.5 - 6 972 c.868C>T c.(868-870)Cga>Tga p.R290* POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000339677.6_Intron|POLDIP3_ENST00000348657.2_Nonsense_Mutation_p.R261*|POLDIP3_ENST00000451060.2_Nonsense_Mutation_p.R134* NM_032311.3 NP_115687.2 Q9BY77 PDIP3_HUMAN polymerase (DNA-directed), delta interacting protein 3 290 RRM. positive regulation of translation cytoplasm|nuclear speck nucleotide binding|protein binding|RNA binding biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1) 16 TCAGTGACTCGAGGGTGCAGA 0.483000 26 48 0 0 1 0 0 NUDT9 53343 broad.mit.edu 37 4 88344102 88344102 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr4:88344102C>T ENST00000302174.4 + 1 369 c.45C>T c.(43-45)ctC>ctT p.L15L NUDT9_ENST00000473942.1_Intron NM_024047.4 NP_076952.1 Q9BW91 NUDT9_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 9 15 mitochondrion ADP-ribose diphosphatase activity endometrium(1)|large_intestine(4)|lung(6) 11 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000937) CGGTGTCTCTCTCTCTGGCCT 0.637000 34 49 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 160952912 160952912 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:160952912C>G ENST00000447678.1 - 40 6092 c.5972G>C c.(5971-5973)gGa>gCa p.G1991A LPA_ENST00000316300.5_Missense_Mutation_p.G1991A NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 4499 Kringle 18. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) CAGAGGCCCTCCACTGTCACC 0.458000 23 20 0 0 1 0 0 METTL3 56339 broad.mit.edu 37 14 21967254 21967254 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr14:21967254C>T ENST00000298717.4 - 10 1697 c.1546G>A c.(1546-1548)Gaa>Aaa p.E516K TOX4_ENST00000262709.3_3'UTR|TOX4_ENST00000405508.1_3'UTR NM_019852.3 NP_062826.2 Q86U44 MTA70_HUMAN methyltransferase like 3 516 gene expression nuclear speck mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(95;0.000628) Epithelial(56;6.61e-06) GBM - Glioblastoma multiforme(265;0.0146) CCATAGATTTCATCTGGTTTA 0.398000 15 36 0 0 1 0 0 C7orf26 79034 broad.mit.edu 37 7 6639964 6639964 + Nonsense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr7:6639964C>G ENST00000344417.5 + 4 1352 c.1085C>G c.(1084-1086)tCa>tGa p.S362* C7orf26_ENST00000472693.1_3'UTR|C7orf26_ENST00000359073.5_Nonsense_Mutation_p.S265* NM_024067.2 NP_076972.2 Q96N11 CG026_HUMAN chromosome 7 open reading frame 26 362 endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1) 11 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986) GCCATGGCCTCAGGAGCTCTG 0.667000 23 21 0 0 1 0 0 POMGNT1 55624 broad.mit.edu 37 1 46654550 46654550 + Silent SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:46654550C>G ENST00000371992.1 - 23 2738 c.2088G>C c.(2086-2088)ctG>ctC p.L696L POMGNT1_ENST00000371984.3_3'UTR|POMGNT1_ENST00000535522.1_3'UTR|POMGNT1_ENST00000371986.3_Silent_p.L696L|POMGNT1_ENST00000396420.3_3'UTR NM_001243766.1 NP_001230695 Q8WZA1 PMGT1_HUMAN protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 0 protein N-linked glycosylation|protein O-linked glycosylation Golgi membrane|integral to membrane|microsome alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(166;0.155) GCCCCACCCTCAGGGCAGCAT 0.557000 16 41 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103162566 103162566 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr7:103162566C>T ENST00000424685.2 - 48 7730 c.7571G>A c.(7570-7572)cGa>cAa p.R2524Q RELN_ENST00000343529.5_Missense_Mutation_p.R2524Q|RELN_ENST00000428762.1_Missense_Mutation_p.R2524Q P78509 RELN_HUMAN reelin 2524 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GGATGGAGCTCGATTGAAGTT 0.547000 12 77 0 0 1 0 0 CLCC1 23155 broad.mit.edu 37 1 109477397 109477397 + Silent SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:109477397G>C ENST00000369971.2 - 11 1680 c.1551C>G c.(1549-1551)ctC>ctG p.L517L CLCC1_ENST00000369969.2_Silent_p.L396L|CLCC1_ENST00000369970.3_Silent_p.L467L|CLCC1_ENST00000415331.1_Silent_p.L467L|CLCC1_ENST00000369968.2_Silent_p.L332L|CLCC1_ENST00000302500.4_Silent_p.L396L|CLCC1_ENST00000356970.2_Silent_p.L517L|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000348264.2_Silent_p.L332L|CLCC1_ENST00000369976.1_Intron|AKNAD1_ENST00000357393.4_Intron NM_001048210.1 NP_001041675.1 Q96S66 CLCC1_HUMAN chloride channel CLIC-like 1 517 endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1) 14 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231) CTTCAGACTTGAGCTGGGCCT 0.597000 49 88 0 0 1 0 0 CILP2 148113 broad.mit.edu 37 19 19655464 19655464 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:19655464G>A ENST00000586018.1 + 8 2230 c.2128G>A c.(2128-2130)Ggc>Agc p.G710S CILP2_ENST00000291495.5_Missense_Mutation_p.G704S Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 704 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 GGGGTCCTCGGGCCCCCGGGT 0.716000 8 10 0 0 1 0 0 PIK3C2A 5286 broad.mit.edu 37 11 17124285 17124285 + Nonsense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:17124285G>A ENST00000265970.7 - 23 3774 c.3775C>T c.(3775-3777)Cga>Tga p.R1259* PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Nonsense_Mutation_p.R879* NM_002645.2 NP_002636.2 O00443 P3C2A_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha 1259 PI3K/PI4K. cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Phosphatidylserine(DB00144) CCCGTGCTTCGAAGCATTATA 0.403000 20 47 0 0 1 0 0 VPS37B 79720 broad.mit.edu 37 12 123380580 123380580 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr12:123380580G>A ENST00000267202.2 - 1 411 c.30C>T c.(28-30)ttC>ttT p.F10F NM_024667.2 NP_078943.1 Q9H9H4 VP37B_HUMAN vacuolar protein sorting 37 homolog B (S. cerevisiae) 10 cellular membrane organization|endosome transport|protein transport late endosome membrane breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1) 5 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205) ACAGCCCGGCGAACCGGGCTT 0.721000 29 42 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140347112 140347112 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr5:140347112C>G ENST00000289269.5 + 1 1293 c.761C>G c.(760-762)tCt>tGt p.S254C PCDHA13_ENST00000289272.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA7_ENST00000525929.1_Intron NM_018899.5|NM_031883.2 NP_061722.1|NP_114089.1 Q9Y5I4 PCDC2_HUMAN 254 Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AACGACAACTCTCCTGCCTTT 0.612000 26 69 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120585990 120585990 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr12:120585990G>C ENST00000300648.6 - 37 4719 c.4707C>G c.(4705-4707)atC>atG p.I1569M NM_006836.1 NP_006827 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 1569 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CCGGGTTCCTGATAACGGAGC 0.602000 14 25 0 0 1 0 0 MEI1 150365 broad.mit.edu 37 22 42180422 42180422 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr22:42180422C>T ENST00000401548.3 + 25 3207 c.3167C>T c.(3166-3168)tCa>tTa p.S1056L MEI1_ENST00000300398.4_Missense_Mutation_p.S64L|MEI1_ENST00000400107.1_Missense_Mutation_p.S389L|MEI1_ENST00000476893.1_3'UTR NM_152513.3 NP_689726.3 Q5TIA1 MEI1_HUMAN meiosis inhibitor 1 1056 binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 GCACTACTCTCAGGTATGGGT 0.483000 19 42 0 0 1 0 0 DENND4B 9909 broad.mit.edu 37 1 153909176 153909176 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:153909176C>G ENST00000361217.4 - 16 2699 c.2281G>C c.(2281-2283)Gag>Cag p.E761Q NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 761 NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GCCCACAGCTCAGGCACAGCT 0.597000 8 15 0 0 1 0 0 MYO1D 4642 broad.mit.edu 37 17 30932242 30932242 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:30932242G>A ENST00000318217.5 - 21 3031 c.2727C>T c.(2725-2727)gtC>gtT p.V909V MYO1D_ENST00000394649.4_Silent_p.V821V|MYO1D_ENST00000579584.1_Silent_p.V909V NM_015194.1 NP_056009.1 O94832 MYO1D_HUMAN myosin ID 909 myosin complex actin binding|ATP binding|calmodulin binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(9;0.0362) TTCCATTGGAGACACTCAGAC 0.408000 31 48 0 0 1 0 0 VN1R2 317701 broad.mit.edu 37 19 53761945 53761945 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:53761945C>T ENST00000341702.3 + 1 401 c.317C>T c.(316-318)tCa>tTa p.S106L NM_173856.2 NP_776255.2 Q8NFZ6 VN1R2_HUMAN vomeronasal 1 receptor 2 106 response to pheromone integral to membrane|plasma membrane pheromone receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(134;0.00301) GGGAATTTTTCACTCTTATAT 0.448000 5 28 0 0 1 0 0 ANXA5 308 broad.mit.edu 37 4 122589652 122589652 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr4:122589652G>C ENST00000296511.5 - 13 1219 c.934C>G c.(934-936)Ctt>Gtt p.L312V ANXA5_ENST00000515017.1_Missense_Mutation_p.L212V|ANXA5_ENST00000501272.2_Missense_Mutation_p.L252V NM_001154.3 NP_001145.1 P08758 ANXA5_HUMAN annexin A5 312 anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction cytoplasm calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1) 15 AGCAGCAGAAGAGCTTTCTTA 0.463000 24 36 0 0 1 0 0 SRRM3 222183 broad.mit.edu 37 7 75894123 75894123 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr7:75894123G>C ENST00000388802.4 + 9 924 c.715G>C c.(715-717)Gag>Cag p.E239Q SRRM3_ENST00000326382.8_Missense_Mutation_p.E239Q serine/arginine repetitive matrix 3 p.E239*(1) NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1) 8 GAAGAACAAAGAgaagaagag 0.552000 40 29 0 0 1 0 0 MLYCD 23417 broad.mit.edu 37 16 83933169 83933169 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:83933169C>T ENST00000262430.4 + 1 439 c.420C>T c.(418-420)ctC>ctT p.L140L NM_012213.2 NP_036345.2 O95822 DCMC_HUMAN malonyl-CoA decarboxylase 140 acyl-CoA metabolic process|fatty acid biosynthetic process mitochondrion|peroxisome malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 12 ATCGCGGCCTCTTCCACCACA 0.736000 11 22 0 0 1 0 0 NACA 4666 broad.mit.edu 37 12 57112904 57112904 + Nonsense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr12:57112904G>A ENST00000454682.1 - 3 2691 c.2410C>T c.(2410-2412)Cag>Tag p.Q804* NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 CTTTTAGTCTGAGGAGACACA 0.483000 T BCL6 NHL 7 22 0 0 1 0 0 ZNF432 9668 broad.mit.edu 37 19 52538020 52538020 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:52538020G>A ENST00000594154.1 - 5 1124 c.912C>T c.(910-912)ctC>ctT p.L304L ZNF432_ENST00000221315.5_Silent_p.L304L O94892 ZN432_HUMAN zinc finger protein 432 304 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 29 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182) GATGTACAATGAGATTACGCT 0.418000 53 71 0 0 1 0 0 TSN 7247 broad.mit.edu 37 2 122520632 122520632 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:122520632C>T ENST00000389682.3 + 5 672 c.425C>T c.(424-426)tCa>tTa p.S142L TSN_ENST00000409193.1_Missense_Mutation_p.S137L|TSN_ENST00000536142.1_Intron|TSN_ENST00000498545.1_3'UTR NM_001261401.1|NM_004622.2 NP_001248330.1|NP_004613.1 Q15631 TSN_HUMAN translin 142 DNA recombination cytoplasm|nucleus sequence-specific DNA binding p.S142L(2) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)|skin(1) 12 Ovarian(717;0.0563)|Prostate(154;0.116) GATTATCTCTCAGGAGTTCTA 0.358000 19 11 0 0 1 0 0 KHDRBS1 10657 broad.mit.edu 37 1 32505160 32505160 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:32505160C>T ENST00000327300.7 + 8 1387 c.1220C>T c.(1219-1221)tCt>tTt p.S407F KHDRBS1_ENST00000307714.8_3'UTR|KHDRBS1_ENST00000492989.1_Missense_Mutation_p.S368F NM_006559.1 NP_006550.1 Q07666 KHDR1_HUMAN KH domain containing, RNA binding, signal transduction associated 1 407 cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent membrane|nucleus DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 14 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) GTTCAAGATTCTTATGAAGCT 0.418000 25 100 0 0 1 0 0 CAMK1 8536 broad.mit.edu 37 3 9803411 9803411 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:9803411C>T ENST00000256460.3 - 6 637 c.460G>A c.(460-462)Gaa>Aaa p.E154K OGG1_ENST00000302036.7_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000349503.5_Intron NM_003656.4 NP_003647.1 Q14012 KCC1A_HUMAN calcium/calmodulin-dependent protein kinase I 154 Protein kinase. cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 12 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.0475) TTGGAGTCTTCATCCAGGCTG 0.562000 22 45 0 0 1 0 0 ZNF721 170960 broad.mit.edu 37 4 437485 437485 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr4:437485G>A ENST00000338977.5 - 2 783 c.735C>T c.(733-735)gtC>gtT p.V245V ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Silent_p.V257V zinc finger protein 721 endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1) 33 ATGAGGAAATGACTTTGCCAC 0.368000 10 27 0 0 1 0 0 PLXNB2 23654 broad.mit.edu 37 22 50720304 50720304 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr22:50720304G>A ENST00000449103.1 - 20 3464 c.3324C>T c.(3322-3324)gtC>gtT p.V1108V PLXNB2_ENST00000359337.4_Silent_p.V1108V O15031 PLXB2_HUMAN plexin B2 1108 regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity p.V1151V(1) breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 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) TGAGCTTGTTGACCTGCTTCT 0.647000 17 48 0 0 1 0 0 DCAF12 25853 broad.mit.edu 37 9 34088385 34088385 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:34088385G>A ENST00000361264.4 - 9 1666 c.1325C>T c.(1324-1326)tCa>tTa p.S442L RP11-537H15.3_ENST00000448245.1_RNA NM_015397.3 NP_056212.1 Q5T6F0 DCA12_HUMAN DDB1 and CUL4 associated factor 12 442 centrosome|CUL4 RING ubiquitin ligase complex breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1) 11 ATGGAGCCCTGAAGGGAGGGG 0.458000 70 128 0 0 1 0 0 MAST3 23031 broad.mit.edu 37 19 18232507 18232507 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:18232507G>A ENST00000262811.6 + 3 84 c.84G>A c.(82-84)ggG>ggA p.G28G MAST3_ENST00000608648.1_3'UTR NM_015016.1 NP_055831.1 O60307 MAST3_HUMAN microtubule associated serine/threonine kinase 3 ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1) 31 GCCGCAGCGGGAACCGCAAGA 0.687000 47 94 0 0 1 0 0 FURIN 5045 broad.mit.edu 37 15 91424197 91424197 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr15:91424197C>T ENST00000268171.3 + 15 1998 c.1719C>T c.(1717-1719)acC>acT p.T573T NM_002569.2 NP_002560.1 P09958 FURIN_HUMAN furin (paired basic amino acid cleaving enzyme) 573 Cys-rich. cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 36 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) TCTATGGCACCGCCCCTGAGG 0.612000 56 88 0 0 1 0 0 CAST 831 broad.mit.edu 37 5 96084256 96084256 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr5:96084256C>T ENST00000395813.1 + 19 1553 c.1367C>T c.(1366-1368)tCa>tTa p.S456L CAST_ENST00000359176.4_Missense_Mutation_p.S437L|CAST_ENST00000508830.1_Missense_Mutation_p.S456L|CAST_ENST00000510756.1_Missense_Mutation_p.S434L|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000338252.3_Missense_Mutation_p.S360L|CAST_ENST00000511782.1_Missense_Mutation_p.S359L|CAST_ENST00000508608.1_Missense_Mutation_p.S419L|CAST_ENST00000508579.1_Missense_Mutation_p.S88L|CAST_ENST00000511049.1_Missense_Mutation_p.S359L|CAST_ENST00000395812.2_Missense_Mutation_p.S415L|CAST_ENST00000309190.5_Missense_Mutation_p.S351L|CAST_ENST00000515663.1_Missense_Mutation_p.S96L|CAST_ENST00000325674.7_Missense_Mutation_p.S421L|CAST_ENST00000341926.3_Missense_Mutation_p.S373L|CAST_ENST00000509903.1_Missense_Mutation_p.S338L|CAST_ENST00000504465.1_Missense_Mutation_p.S301L NM_001284213.1 NP_001271142.1 P20810 ICAL_HUMAN calpastatin 373 calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2) 22 all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;6.85e-15) GATGAACTTTCAGAAGATTTT 0.323000 26 29 0 0 1 0 0 BTF3 689 broad.mit.edu 37 5 72798795 72798795 + Nonsense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr5:72798795C>T ENST00000380591.3 + 4 589 c.370C>T c.(370-372)Cag>Tag p.Q124* BTF3_ENST00000335895.8_Nonsense_Mutation_p.Q80*|BTF3_ENST00000514505.2_3'UTR NM_001037637.1 NP_001032726.1 P20290 BTF3_HUMAN basic transcription factor 3 124 NAC-A/B. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding endometrium(1)|large_intestine(2)|lung(2) 5 Lung NSC(167;0.00405)|Ovarian(174;0.0175) OV - Ovarian serous cystadenocarcinoma(47;2.73e-54) CCCTAAAGTTCAGGCATCTCT 0.418000 45 60 0 0 1 0 0 ZNF730 100129543 broad.mit.edu 37 19 23316917 23316917 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:23316917C>T ENST00000597761.2 + 2 238 c.39C>T c.(37-39)ttC>ttT p.F13F ZNF730_ENST00000593635.1_5'UTR NM_001277403.1 NP_001264332.1 zinc finger protein 730 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1) 16 CCATAGAATTCTCTCTGGAGG 0.408000 19 72 0 0 1 0 0 ARVCF 421 broad.mit.edu 37 22 19959443 19959443 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr22:19959443G>C ENST00000263207.3 - 18 3038 c.2747C>G c.(2746-2748)tCt>tGt p.S916C ARVCF_ENST00000406522.1_Missense_Mutation_p.S847C|ARVCF_ENST00000406259.1_Missense_Mutation_p.S910C|ARVCF_ENST00000401994.1_Missense_Mutation_p.S853C|ARVCF_ENST00000344269.3_Missense_Mutation_p.S853C NM_001670.2 NP_001661.1 O00192 ARVC_HUMAN armadillo repeat gene deleted in velocardiofacial syndrome 916 cell adhesion|multicellular organismal development protein binding NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2) 13 Colorectal(54;0.0993) CTCTCCTGCAGAGCTGGCGCC 0.652000 23 45 0 0 1 0 0 ZFP36L1 677 broad.mit.edu 37 14 69256992 69256992 + Nonsense_Mutation SNP G G T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr14:69256992G>T ENST00000439696.2 - 2 576 c.275C>A c.(274-276)tCg>tAg p.S92* ZFP36L1_ENST00000336440.3_Nonsense_Mutation_p.S92*|ZFP36L1_ENST00000555997.1_3'UTR NM_001244701.1|NM_004926.3 NP_001231630.1|NP_004917.2 Q07352 TISB_HUMAN ZFP36 ring finger protein-like 1 92 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1) 21 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) GCCCCCTTCCGAGAAGGAGCG 0.672000 OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 51 1.2644e-06 1.2851e-06 1 1 0 RASEF 158158 broad.mit.edu 37 9 85677430 85677430 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:85677430G>A ENST00000376447.3 - 1 613 c.353C>T c.(352-354)tCg>tTg p.S118L RASEF_ENST00000340717.4_Missense_Mutation_p.S118L NM_152573.2 NP_689786.2 Q8IZ41 RASEF_HUMAN RAS and EF-hand domain containing 118 protein transport|small GTPase mediated signal transduction perinuclear region of cytoplasm calcium ion binding|GTP binding p.S118L(1) NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 33 CGGGCCGCACGAGGTGGCCAG 0.721000 17 24 0 0 1 0 0 SVOPL 136306 broad.mit.edu 37 7 138333769 138333769 + Silent SNP G G A rs140188327 byFrequency TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr7:138333769G>A ENST00000421622.1 - 4 496 c.288C>T c.(286-288)atC>atT p.I96I SVOPL_ENST00000419765.3_Silent_p.I216I|SVOPL_ENST00000288513.5_Silent_p.I64I|SVOPL_ENST00000436657.1_Silent_p.I64I Q8N434 SVOPL_HUMAN SVOP-like 216 integral to membrane transmembrane transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 19 TGAAGGCCACGATGAGGATGA 0.597000 23 23 0 0 1 0 0 AGAP6 414189 broad.mit.edu 37 10 51749101 51749101 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr10:51749101C>T ENST00000412531.3 + 2 329 c.257C>T c.(256-258)tCa>tTa p.S86L AGAP6_ENST00000374056.4_Intron NM_001077665.2 NP_001071133.2 C9IYN2 C9IYN2_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 86 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2) 29 AATCCAGAGTCAAGCACAATA 0.343000 21 54 0 0 1 0 0 MAP4 4134 broad.mit.edu 37 3 47894742 47894742 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:47894742G>A ENST00000426837.2 - 20 6884 c.6797C>T c.(6796-6798)tCa>tTa p.S2266L MAP4_ENST00000264724.11_Missense_Mutation_p.S856L|MAP4_ENST00000360240.6_Missense_Mutation_p.S1121L|MAP4_ENST00000383737.4_Missense_Mutation_p.S780L|MAP4_ENST00000420772.2_Intron|MAP4_ENST00000395734.3_Intron|MAP4_ENST00000441748.2_Intron P27816 MAP4_HUMAN microtubule-associated protein 4 1121 negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2) 32 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) GCCACTGGCTGAAGTGGGGGC 0.667000 31 54 0 0 1 0 0 GUF1 60558 broad.mit.edu 37 4 44700657 44700657 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr4:44700657G>C ENST00000281543.5 + 17 2163 c.1969G>C c.(1969-1971)Gat>Cat p.D657H GUF1_ENST00000506793.1_3'UTR NM_021927.2 NP_068746.2 Q8N442 GUF1_HUMAN GUF1 GTPase homolog (S. cerevisiae) 657 translation mitochondrial inner membrane GTP binding|GTPase activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 19 AGTTCCAAAAGATGCTTTTAT 0.328000 17 24 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47783764 47783764 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr21:47783764G>A ENST00000359568.5 + 14 2631 c.2524G>A c.(2524-2526)Gag>Aag p.E842K PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 842 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding p.E842*(1)|p.E842K(1)|p.E842Q(1) NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) GTGTGGGCGGGAGCCGCCCAC 0.662000 114 74 0 0 1 0 0 C5orf38 153571 broad.mit.edu 37 5 2752818 2752818 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr5:2752818G>C ENST00000515640.1 + 2 302 c.283G>C c.(283-285)Gag>Cag p.E95Q C5orf38_ENST00000505778.1_Missense_Mutation_p.E95Q|C5orf38_ENST00000334000.3_Missense_Mutation_p.E95Q|C5orf38_ENST00000457752.2_Intron|C5orf38_ENST00000397835.4_Missense_Mutation_p.E95Q|IRX2_ENST00000502957.1_5'UTR Q86SI9 CEI_HUMAN chromosome 5 open reading frame 38 95 extracellular region endometrium(2)|large_intestine(1)|lung(1) 4 GBM - Glioblastoma multiforme(108;0.205) CAGTCACGTCGAGAACGGGCA 0.602000 55 92 0 0 1 0 0 POLR2A 5430 broad.mit.edu 37 17 7401401 7401401 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:7401401C>G ENST00000322644.6 + 8 1606 c.1207C>G c.(1207-1209)Caa>Gaa p.Q403E POLR2A_ENST00000572844.1_Missense_Mutation_p.Q403E NM_000937.4 NP_000928 P24928 RPB1_HUMAN polymerase (RNA) II (DNA directed) polypeptide A, 220kDa 403 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 50 Prostate(122;0.173) TCCTAGACTTCAAGAACTAGT 0.507000 54 34 0 0 1 0 0 SESN3 143686 broad.mit.edu 37 11 94918476 94918476 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:94918476C>T ENST00000536441.1 - 5 1042 c.706G>A c.(706-708)Gat>Aat p.D236N RP11-712B9.2_ENST00000534891.1_RNA|SESN3_ENST00000278499.2_Missense_Mutation_p.D97N|SESN3_ENST00000416495.2_Missense_Mutation_p.D236N|SESN3_ENST00000393234.1_Missense_Mutation_p.D236N|RP11-712B9.2_ENST00000534864.1_RNA NM_001271594.1|NM_144665.2 NP_001258523.1|NP_653266.2 P58005 SESN3_HUMAN sestrin 3 236 cell cycle arrest nucleus endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1) 16 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) BRCA - Breast invasive adenocarcinoma(274;0.234) TTAGCAAGATCACAAACGCAG 0.363000 84 70 0 0 1 0 0 FZD5 7855 broad.mit.edu 37 2 208633056 208633056 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:208633056G>A ENST00000295417.3 - 2 961 c.408C>T c.(406-408)ctC>ctT p.L136L NM_003468.3 NP_003459.2 Q13467 FZD5_HUMAN frizzled family receptor 5 136 FZ. angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134) CCAGCACCGGGAGGCGGTCGC 0.731000 4 3 0 0 1 0 0 SLC4A2 6522 broad.mit.edu 37 7 150768813 150768813 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr7:150768813G>A ENST00000485713.1 + 15 3269 c.2229G>A c.(2227-2229)ctG>ctA p.L743L SLC4A2_ENST00000461735.1_Silent_p.L729L|SLC4A2_ENST00000413384.2_Silent_p.L743L|SLC4A2_ENST00000310317.5_Silent_p.L661L|SLC4A2_ENST00000392826.2_Silent_p.L734L NM_001199692.1 NP_001186621.1 P04920 B3A2_HUMAN solute carrier family 4 (anion exchanger), member 2 743 Membrane (anion exchange). bicarbonate transport integral to membrane|membrane fraction inorganic anion exchanger activity NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGTCGGAGCTGATTATGTCCA 0.657000 74 61 0 0 1 0 0 C6orf211 79624 broad.mit.edu 37 6 151779664 151779664 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:151779664G>C ENST00000367294.3 + 3 608 c.349G>C c.(349-351)Gaa>Caa p.E117Q C6orf211_ENST00000483931.1_3'UTR|C6orf211_ENST00000545879.1_5'UTR NM_024573.1 NP_078849.1 Q9H993 CF211_HUMAN chromosome 6 open reading frame 211 117 protein binding breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7) 15 BRCA - Breast invasive adenocarcinoma(37;0.183) OV - Ovarian serous cystadenocarcinoma(155;5.27e-11) GTTGTTGGTAGAATGTTACAT 0.318000 13 13 0 0 1 0 0 WDR83 84292 broad.mit.edu 37 19 12780690 12780690 + Missense_Mutation SNP G G T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:12780690G>T ENST00000418543.3 + 3 435 c.86G>T c.(85-87)cGa>cTa p.R29L WDR83OS_ENST00000596731.1_5'UTR|WDR83_ENST00000242796.4_Missense_Mutation_p.R29L NM_001099737.2 NP_001093207.1 Q9BRX9 WDR83_HUMAN WD repeat domain 83 29 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|cytoplasm breast(2)|large_intestine(1)|lung(1) 4 GGGGCAGTGCGAGCCGTACGA 0.642000 51 154 1.32667e-27 1.38385e-27 1 1 0 NT5DC2 64943 broad.mit.edu 37 3 52558849 52558849 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:52558849C>G ENST00000307076.4 - 13 1685 c.1285G>C c.(1285-1287)Gag>Cag p.E429Q NT5DC2_ENST00000422318.2_Missense_Mutation_p.E466Q|NT5DC2_ENST00000459839.1_Missense_Mutation_p.E441Q|NT5DC2_ENST00000307092.4_Missense_Mutation_p.E370Q NM_022908.2 NP_075059.1 Q9H857 NT5D2_HUMAN 5'-nucleotidase domain containing 2 429 hydrolase activity|metal ion binding endometrium(1)|lung(3)|prostate(1)|stomach(1) 6 BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476) TCCTGCCGCTCTTTCATCCAG 0.657000 32 76 0 0 1 0 0 TEX10 54881 broad.mit.edu 37 9 103070858 103070858 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:103070858G>A ENST00000374902.4 - 13 2565 c.2389C>T c.(2389-2391)Ctg>Ttg p.L797L TEX10_ENST00000535814.1_Silent_p.L800L NM_017746.3 NP_060216.2 Q9NXF1 TEX10_HUMAN testis expressed 10 797 integral to membrane|MLL1 complex|nuclear membrane|nucleolus binding NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 38 Acute lymphoblastic leukemia(62;0.0527) OV - Ovarian serous cystadenocarcinoma(323;0.157) CAAGAAGCCAGAAATGGCAGT 0.398000 35 83 0 0 1 0 0 PATZ1 23598 broad.mit.edu 37 22 31741457 31741457 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr22:31741457G>A ENST00000266269.5 - 1 761 c.132C>T c.(130-132)ctC>ctT p.L44L PATZ1_ENST00000405309.3_Silent_p.L44L|PATZ1_ENST00000351933.4_Silent_p.L44L|PATZ1_ENST00000215919.3_Silent_p.L44L NM_014323.2 NP_055138.2 Q9HBE1 PATZ1_HUMAN POZ (BTB) and AT hook containing zinc finger 1 44 BTB. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding EWSR1/PATZ1(2) NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2) 12 CTACCCGCAAGAGCACGTCGC 0.647000 5 16 0 0 1 0 0 STON1-GTF2A1L 286749 broad.mit.edu 37 2 48874023 48874023 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:48874023C>G ENST00000394754.1 + 8 3046 c.2932C>G c.(2932-2934)Ctg>Gtg p.L978V GTF2A1L_ENST00000403751.3_Missense_Mutation_p.L274V|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.L240V|LHCGR_ENST00000420913.3_Intron|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.L931V|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.L978V|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.L978V|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.L978V NM_172311.2 NP_758515.1 B7ZL16 B7ZL16_HUMAN 931 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4) 91 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) GGCTCAAAATCTGCATGATGA 0.443000 35 56 0 0 1 0 0 DYNC2H1 79659 broad.mit.edu 37 11 102980456 102980456 + Silent SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:102980456C>G ENST00000375735.2 + 1 297 c.153C>G c.(151-153)ctC>ctG p.L51L DYNC2H1_ENST00000398093.3_Silent_p.L51L|DYNC2H1_ENST00000334267.7_Silent_p.L51L NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 51 Stem (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) AGATGCTCCTCAGGGTGCAGC 0.532000 15 18 0 0 1 0 0 SLC2A1 6513 broad.mit.edu 37 1 43393372 43393372 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:43393372G>A ENST00000426263.3 - 9 1360 c.1182C>T c.(1180-1182)ctC>ctT p.L394L SLC2A1_ENST00000475162.1_Intron NM_006516.2 NP_006507.2 P11166 GTR1_HUMAN solute carrier family 2 (facilitated glucose transporter), member 1 394 carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process integral to membrane|melanosome|membrane fraction|midbody D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2) 13 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0122) Etomidate(DB00292) CCTGGCTGAAGAGTTCAGCCA 0.542000 9 39 0 0 1 0 0 PMM2 5373 broad.mit.edu 37 16 8941644 8941644 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:8941644G>A ENST00000268261.4 + 8 769 c.703G>A c.(703-705)Gag>Aag p.E235K PMM2_ENST00000539622.1_Missense_Mutation_p.E152K|RP11-152P23.2_ENST00000567942.1_RNA|PMM2_ENST00000566983.1_Missense_Mutation_p.E208K|PMM2_ENST00000537352.1_Missense_Mutation_p.E110K|PMM2_ENST00000569958.1_Missense_Mutation_p.E144K NM_000303.2 NP_000294.1 O15305 PMM2_HUMAN phosphomannomutase 2 235 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol phosphomannomutase activity breast(3)|cervix(1)|endometrium(2)|large_intestine(1)|ovary(1)|skin(1) 9 GACAGCGCCTGAGGACACGCG 0.602000 22 71 0 0 1 0 0 NAT10 55226 broad.mit.edu 37 11 34167637 34167637 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:34167637G>A ENST00000257829.3 + 29 3182 c.2976G>A c.(2974-2976)aaG>aaA p.K992K NAT10_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Silent_p.K920K|NAT10_ENST00000532555.1_3'UTR NM_024662.2 NP_078938 Q9H0A0 NAT10_HUMAN N-acetyltransferase 10 (GCN5-related) 992 Lys-rich.|Required for localization to the nucleolus and midbody. nucleolus ATP binding|N-acetyltransferase activity|protein binding endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231) CTAGTGACAAGAAAAGGAAGT 0.348000 7 10 0 0 1 0 0 GP5 2814 broad.mit.edu 37 3 194118121 194118121 + Silent SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:194118121C>G ENST00000401815.1 - 1 962 c.891G>C c.(889-891)ctG>ctC p.L297L GP5_ENST00000323007.3_Silent_p.L297L P40197 GPV_HUMAN glycoprotein V (platelet) 297 blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 35 all_cancers(143;6.64e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.06e-05) GGGTGCGGTTCAGCCACAGCT 0.672000 11 24 0 0 1 0 0 EIF5 1983 broad.mit.edu 37 14 103804753 103804753 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr14:103804753G>A ENST00000216554.3 + 7 1205 c.529G>A c.(529-531)Gag>Aag p.E177K EIF5_ENST00000392715.2_Missense_Mutation_p.E177K|EIF5_ENST00000558506.1_Missense_Mutation_p.E177K NM_001969.4 NP_001960.2 P55010 IF5_HUMAN eukaryotic translation initiation factor 5 177 regulation of translational initiation|RNA metabolic process cytosol GTP binding|GTPase activity|translation initiation factor activity breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1) 18 Melanoma(154;0.155) Epithelial(46;0.182) ATCCAGCAGTGAGAcaccacc 0.433000 5 10 0 0 1 0 0 GIT2 9815 broad.mit.edu 37 12 110429501 110429501 + Silent SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr12:110429501C>G ENST00000360185.4 - 2 281 c.117G>C c.(115-117)cgG>cgC p.R39R GIT2_ENST00000457474.2_Silent_p.R39R|GIT2_ENST00000355312.3_Silent_p.R39R|GIT2_ENST00000338373.5_Silent_p.R39R|GIT2_ENST00000551209.1_Silent_p.R39R|GIT2_ENST00000361006.5_Silent_p.R39R|GIT2_ENST00000343646.5_Silent_p.R39R|GIT2_ENST00000354574.4_Silent_p.R39R|GIT2_ENST00000547815.1_Silent_p.R39R|GIT2_ENST00000356259.4_Silent_p.R39R|GIT2_ENST00000320063.9_Silent_p.R39R|GIT2_ENST00000553118.1_Silent_p.R39R NM_014776.3 NP_055591.2 Q14161 GIT2_HUMAN G protein-coupled receptor kinase interacting ArfGAP 2 39 Arf-GAP. regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway nucleoplasm ARF GTPase activator activity|protein binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4) 27 GCCCTAGACTCCGATGGACAC 0.493000 14 51 0 0 1 0 0 PHLPP2 23035 broad.mit.edu 37 16 71724592 71724592 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:71724592G>A ENST00000393524.2 - 3 1172 c.439C>T c.(439-441)Cgt>Tgt p.R147C PHLPP2_ENST00000568954.1_Missense_Mutation_p.R147C|PHLPP2_ENST00000356272.3_Missense_Mutation_p.R147C|PHLPP2_ENST00000567016.1_Missense_Mutation_p.R182C|PHLPP2_ENST00000360429.3_Missense_Mutation_p.R147C Q6ZVD8 PHLP2_HUMAN PH domain and leucine rich repeat protein phosphatase 2 147 R -> C (in Ref. 3; BX647823). cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 CGATCCAAACGATCCATGTGG 0.418000 8 31 0 0 1 0 0 MTMR1 8776 broad.mit.edu 37 X 149905822 149905822 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chrX:149905822C>G ENST00000445323.2 + 12 1496 c.1375C>G c.(1375-1377)Ctg>Gtg p.L459V MTMR1_ENST00000538506.1_Missense_Mutation_p.L276V|MTMR1_ENST00000541925.1_Missense_Mutation_p.L357V|MTMR1_ENST00000370390.3_Missense_Mutation_p.L451V|MTMR1_ENST00000544228.1_Missense_Mutation_p.L451V|MTMR1_ENST00000451863.2_Missense_Mutation_p.L451V Q13613 MTMR1_HUMAN myotubularin related protein 1 451 Myotubularin phosphatase. plasma membrane protein tyrosine phosphatase activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) GCTCACATCTCTGGCTATGCT 0.463000 51 23 0 0 1 0 0 XPO7 23039 broad.mit.edu 37 8 21859708 21859708 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr8:21859708G>C ENST00000434536.1 + 25 2997 c.2895G>C c.(2893-2895)aaG>aaC p.K965N XPO7_ENST00000433566.4_Missense_Mutation_p.K957N|XPO7_ENST00000252512.9_Missense_Mutation_p.K956N Q9UIA9 XPO7_HUMAN exportin 7 956 mRNA transport|protein export from nucleus|transmembrane transport cytoplasm|nuclear pore nuclear export signal receptor activity|protein transporter activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724) GCACCAAGAAGAGGACCACAC 0.537000 8 24 0 0 1 0 0 ZFP36L1 677 broad.mit.edu 37 14 69256370 69256370 + Silent SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr14:69256370G>C ENST00000439696.2 - 2 1198 c.897C>G c.(895-897)ctC>ctG p.L299L ZFP36L1_ENST00000336440.3_Silent_p.L299L|ZFP36L1_ENST00000555997.1_3'UTR NM_001244701.1|NM_004926.3 NP_001231630.1|NP_004917.2 Q07352 TISB_HUMAN ZFP36 ring finger protein-like 1 299 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1) 21 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) CCTGGTCCGAGAGAGAATCCT 0.642000 OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 57 117 0 0 1 0 0 NAP1L3 4675 broad.mit.edu 37 X 92926917 92926917 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chrX:92926917C>G ENST00000373079.3 - 1 1650 c.1387G>C c.(1387-1389)Gat>Cat p.D463H NAP1L3_ENST00000475430.2_Missense_Mutation_p.D456H NM_004538.5 NP_004529.2 Q99457 NP1L3_HUMAN nucleosome assembly protein 1-like 3 463 nucleosome assembly chromatin assembly complex haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 34 AAGTCCTCATCCAGGATAGCA 0.403000 11 5 0 0 1 0 0 ZBTB33 10009 broad.mit.edu 37 X 119387422 119387422 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chrX:119387422C>T ENST00000326624.2 + 2 380 c.152C>T c.(151-153)tCa>tTa p.S51L ZBTB33_ENST00000557385.1_Missense_Mutation_p.S51L NM_006777.3 NP_006768.1 Q86T24 KAISO_HUMAN zinc finger and BTB domain containing 33 51 BTB.|Interaction with NCOR1.|Self-association (By similarity). intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|nucleolus|plasma membrane DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 26 AATATTCTTTCAGCTTCTAGT 0.428000 81 29 0 0 1 0 0 MPEG1 219972 broad.mit.edu 37 11 58978531 58978531 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:58978531C>T ENST00000361050.3 - 1 1893 c.1808G>A c.(1807-1809)aGt>aAt p.S603N NM_001039396.1 NP_001034485.1 Q2M385 MPEG1_HUMAN macrophage expressed 1 603 integral to membrane NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 all_epithelial(135;0.125) GGCAGCCTGACTCATGAGGGG 0.567000 51 172 0 0 1 0 0 ELMO3 79767 broad.mit.edu 37 16 67237768 67237768 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:67237768C>T ENST00000393997.2 + 20 2367 c.2310C>T c.(2308-2310)atC>atT p.I770I ELMO3_ENST00000477898.1_Silent_p.I604I|ELMO3_ENST00000360833.1_Silent_p.I753I NM_024712.3 NP_078988.2 Q96BJ8 ELMO3_HUMAN engulfment and cell motility 3 717 apoptosis|phagocytosis cytoplasm|cytoskeleton SH3 domain binding cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 18 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417) ACTGCAGCATCGCTGAACCTT 0.642000 6 7 0 0 1 0 0 OSM 5008 broad.mit.edu 37 22 30660086 30660086 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr22:30660086G>A ENST00000215781.2 - 3 585 c.545C>T c.(544-546)tCg>tTg p.S182L OSM_ENST00000403389.1_Missense_Mutation_p.S161L|OSM_ENST00000403463.1_3'UTR NM_020530.4 NP_065391.1 P13725 ONCM_HUMAN oncostatin M 182 cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth extracellular space|oncostatin-M receptor complex cytokine activity|growth factor activity|oncostatin-M receptor binding breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3) 11 Epithelial(10;0.206) AAAAGCATCCGAGGCAGGGGT 0.647000 13 27 0 0 1 0 0 TBC1D13 54662 broad.mit.edu 37 9 131565699 131565699 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:131565699C>T ENST00000372648.5 + 8 864 c.714C>T c.(712-714)ctC>ctT p.L238L TBC1D13_ENST00000539497.1_Silent_p.L57L|TBC1D13_ENST00000223865.8_Intron|TBC1D13_ENST00000466056.1_3'UTR NM_018201.3 NP_060671.3 Q9NVG8 TBC13_HUMAN TBC1 domain family, member 13 238 Rab-GAP TBC. intracellular Rab GTPase activator activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 6 TGGGGCCCCTCTACTACACCT 0.577000 20 51 0 0 1 0 0 KIAA0430 9665 broad.mit.edu 37 16 15715751 15715751 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:15715751G>A ENST00000396368.3 - 12 2684 c.2478C>T c.(2476-2478)ctC>ctT p.L826L KIAA0430_ENST00000602337.1_Silent_p.L823L|KIAA0430_ENST00000548025.1_Silent_p.L823L|KIAA0430_ENST00000540441.2_Silent_p.L661L|KIAA0430_ENST00000344181.3_Silent_p.L495L|KIAA0430_ENST00000551742.1_Silent_p.L826L NM_001184998.1|NM_001184999.1|NM_014647.3 NP_001171927.1|NP_001171928.1|NP_055462.2 Q9Y4F3 LKAP_HUMAN KIAA0430 825 RRM. peroxisome nucleotide binding|RNA binding breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 TATGGGGGCTGAGCTCAACAC 0.453000 15 41 0 0 1 0 0 MTOR 2475 broad.mit.edu 37 1 11182125 11182125 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:11182125G>A ENST00000361445.4 - 48 6797 c.6721C>T c.(6721-6723)Ccc>Tcc p.P2241S MTOR_ENST00000376838.1_Missense_Mutation_p.P446S NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 2241 PI3K/PI4K. cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 TCACAGTGGGGAACCCAGCCA 0.537000 17 54 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21427462 21427462 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr18:21427462G>A ENST00000313654.9 + 32 4207 c.3966G>A c.(3964-3966)atG>atA p.M1322I LAMA3_ENST00000399516.3_Missense_Mutation_p.M1322I NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 1322 Domain III B.|Laminin EGF-like 10. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GTGAAGAGATGACGGGGCAGT 0.632000 30 65 0 0 1 0 0 COL16A1 1307 broad.mit.edu 37 1 32120448 32120448 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:32120448C>T ENST00000373672.3 - 68 4818 c.4302G>A c.(4300-4302)gtG>gtA p.V1434V RP11-73M7.6_ENST00000609033.1_RNA|RP11-73M7.6_ENST00000609338.1_RNA|RP11-73M7.6_ENST00000610043.1_RNA|COL16A1_ENST00000271069.6_Silent_p.V1434V|RP11-73M7.6_ENST00000608332.1_RNA|RP11-73M7.6_ENST00000589462.1_RNA|RP11-73M7.6_ENST00000593188.1_RNA|RP11-73M7.6_ENST00000609373.1_RNA|RP11-73M7.6_ENST00000585413.1_RNA|COL16A1_ENST00000461217.1_5'UTR|RP11-73M7.6_ENST00000591929.1_RNA|RP11-73M7.6_ENST00000591592.1_RNA|RP11-73M7.6_ENST00000585660.1_RNA|RP11-73M7.6_ENST00000610216.1_RNA|RP11-73M7.6_ENST00000608246.1_RNA|RP11-73M7.6_ENST00000608888.1_RNA|RP11-73M7.6_ENST00000609625.1_RNA|RP11-73M7.6_ENST00000607926.1_RNA|RP11-73M7.6_ENST00000587445.1_RNA|RP11-73M7.6_ENST00000609549.1_RNA NM_001856.3 NP_001847.3 Q07092 COGA1_HUMAN collagen, type XVI, alpha 1 1434 Nonhelical region 2 (NC2). cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4) 48 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) CATCATAATTCACCATGTCTC 0.453000 55 99 0 0 1 0 0 RAD21 5885 broad.mit.edu 37 8 117868972 117868972 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr8:117868972C>G ENST00000297338.2 - 7 1014 c.727G>C c.(727-729)Gat>Cat p.D243H NM_006265.2 NP_006256.1 O60216 RAD21_HUMAN RAD21 homolog (S. pombe) 243 apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1) 32 all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172) GGGGGATCATCAAAGATACCG 0.403000 28 61 0 0 1 0 0 TFAP4 7023 broad.mit.edu 37 16 4322723 4322723 + Nonsense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:4322723G>A ENST00000204517.6 - 1 353 c.25C>T c.(25-27)Cag>Tag p.Q9* NM_003223.2 NP_003214.1 Q01664 TFAP4_HUMAN transcription factor AP-4 (activating enhancer binding protein 4) 9 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle transcriptional repressor complex E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 14 GGCACCTTCTGAGTGGGCACC 0.547000 6 30 0 0 1 0 0 C15orf39 56905 broad.mit.edu 37 15 75501194 75501194 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr15:75501194C>T ENST00000567617.1 + 1 2805 c.2805C>T c.(2803-2805)acC>acT p.T935T C15orf39_ENST00000360639.2_Intron|C15orf39_ENST00000394987.4_Intron Q6ZRI6 CO039_HUMAN chromosome 15 open reading frame 39 0 autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 16 CAGTGGCCACCGGAGCTGTGT 0.647000 3 17 0 0 1 0 0 PCM1 5108 broad.mit.edu 37 8 17827154 17827154 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr8:17827154G>A ENST00000325083.8 + 22 3920 c.3481G>A c.(3481-3483)Gaa>Aaa p.E1161K PCM1_ENST00000519253.1_Missense_Mutation_p.E1161K|PCM1_ENST00000524226.1_Missense_Mutation_p.E1162K NM_006197.3 NP_006188 Q15154 PCM1_HUMAN pericentriolar material 1 1161 centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome centriolar satellite|cytosol|nuclear membrane|pericentriolar material identical protein binding PCM1/JAK2(30) breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 48 Colorectal(111;0.0789) TACACCCAGTGAACAGCAGCA 0.373000 T """RET, JAK2""" """papillary thyroid, CML, MPD""" 26 61 0 0 1 0 0 SLC41A1 254428 broad.mit.edu 37 1 205779453 205779453 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:205779453G>A ENST00000367137.3 - 2 1131 c.117C>T c.(115-117)ttC>ttT p.F39F NM_173854.4 NP_776253.3 Q8IVJ1 S41A1_HUMAN solute carrier family 41 (magnesium transporter), member 1 39 integral to membrane|plasma membrane magnesium ion transmembrane transporter activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 17 Breast(84;0.0799) BRCA - Breast invasive adenocarcinoma(75;0.0252) CAGGCCCCAGGAACTCTGAGG 0.647000 OREG0014163 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 42 68 0 0 1 0 0 ZNF780B 163131 broad.mit.edu 37 19 40541190 40541190 + Nonsense_Mutation SNP C C A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:40541190C>A ENST00000434248.1 - 5 1641 c.1576G>T c.(1576-1578)Gag>Tag p.E526* ZNF780B_ENST00000221355.6_Nonsense_Mutation_p.E378* NM_001005851.2 NP_001005851.1 Q9Y6R6 Z780B_HUMAN zinc finger protein 780B 526 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TAGGGCTTCTCACCAGTGTGA 0.423000 24 69 1.10513e-12 1.1378e-12 1 1 0 OAZ1 4946 broad.mit.edu 37 19 2273075 2273075 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:2273075G>A ENST00000583542.4 + 6 753 c.679G>A c.(679-681)Gag>Aag p.E227K OAZ1_ENST00000582888.4_Missense_Mutation_p.E217K|OAZ1_ENST00000602676.2_Missense_Mutation_p.E219K|OAZ1_ENST00000322297.4_Missense_Mutation_p.E218K|OAZ1_ENST00000588673.2_Missense_Mutation_p.E248K P54368 OAZ1_HUMAN ornithine decarboxylase antizyme 1 polyamine biosynthetic process|regulation of cellular amino acid metabolic process cytosol ornithine decarboxylase inhibitor activity endometrium(1)|lung(2) 3 Hepatocellular(1079;0.137) 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) L-Ornithine(DB00129) CTACACGTTCGAGAGAGAGTC 0.627000 7 23 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31323084 31323084 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr18:31323084G>C ENST00000269197.5 + 12 3272 c.3272G>C c.(3271-3273)gGa>gCa p.G1091A NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1091 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 GGAAGTCCAGGAGAGGGTGGA 0.582000 22 80 0 0 1 0 0 TRAV12-3 28672 broad.mit.edu 37 14 22434231 22434231 + RNA SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr14:22434231C>T ENST00000390442.3 + 0 340 AAGTATATCTCCTTGTTCATC 0.488000 69 137 0 0 1 0 0 TMC4 147798 broad.mit.edu 37 19 54665850 54665850 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:54665850G>A ENST00000376591.4 - 11 1823 c.1692C>T c.(1690-1692)ttC>ttT p.F564F TMC4_ENST00000301187.4_Silent_p.F558F|TMC4_ENST00000416963.1_Silent_p.F146F NM_001145303.1|NM_144686.2 NP_001138775|NP_653287.2 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 564 integral to membrane breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 22 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) tcttcagGTAGAAAAGCAGCA 0.597000 18 26 0 0 1 0 0 TCEA3 6920 broad.mit.edu 37 1 23710889 23710889 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:23710889C>T ENST00000450454.2 - 10 1094 c.988G>A c.(988-990)Gag>Aag p.E330K NM_003196.1 NP_003187.1 O75764 TCEA3_HUMAN transcription elongation factor A (SII), 3 330 regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent nucleus DNA binding|translation elongation factor activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1) 7 Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198) GTCATGGGCTCATCAGCACTG 0.498000 34 157 0 0 1 0 0 ZNF385C 201181 broad.mit.edu 37 17 40180165 40180165 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:40180165C>G ENST00000436535.3 - 6 1070 c.1070G>C c.(1069-1071)aGa>aCa p.R357T ZNF385C_ENST00000461831.1_5'UTR zinc finger protein 385C lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 3 all_cancers(22;0.00127)|Breast(137;0.00104)|all_epithelial(22;0.0126) CCCTGTGACTCTCTTGGCTTT 0.682000 34 59 0 0 1 0 0 RAD51C 5889 broad.mit.edu 37 17 56780672 56780672 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:56780672C>T ENST00000337432.4 + 4 758 c.687C>T c.(685-687)ttC>ttT p.F229F RAD51C_ENST00000487921.1_3'UTR|RAD51C_ENST00000583539.1_Silent_p.F229F NM_058216.1 NP_478123.1 O43502 RA51C_HUMAN RAD51 paralog C 229 blood coagulation|DNA repair mitochondrion|nucleoplasm|perinuclear region of cytoplasm ATP binding|DNA binding|DNA-dependent ATPase activity upper_aerodigestive_tract(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) TTCCAGATTTCCTTTCAGAAC 0.338000 Homologous recombination Hereditary Breast-Ovarian Cancer, non-BRCA1/2 13 65 0 0 1 0 0 NUP160 23279 broad.mit.edu 37 11 47861946 47861946 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:47861946G>A ENST00000378460.2 - 3 555 c.509C>T c.(508-510)tCc>tTc p.S170F NUP160_ENST00000530326.1_Missense_Mutation_p.S56F|NUP160_ENST00000526870.1_Missense_Mutation_p.S170F|NUP160_ENST00000532747.1_Intron|NUP160_ENST00000528071.1_Missense_Mutation_p.S56F NM_015231.1 NP_056046.1 Q12769 NU160_HUMAN nucleoporin 160kDa 170 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2) 53 ATACATCCGGGAGGGGTGTGG 0.418000 21 41 0 0 1 0 0 WWP1 11059 broad.mit.edu 37 8 87437544 87437544 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr8:87437544C>T ENST00000517970.1 + 10 1461 c.1154C>T c.(1153-1155)cCa>cTa p.P385L WWP1_ENST00000341922.2_Missense_Mutation_p.P255L|WWP1_ENST00000349423.2_Missense_Mutation_p.P167L|WWP1_ENST00000265428.4_Missense_Mutation_p.P385L NM_007013.3 NP_008944.1 Q9H0M0 WWP1_HUMAN WW domain containing E3 ubiquitin protein ligase 1 385 WW 2. central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1) 31 CCTTTACCTCCAGGGTAATAT 0.338000 15 35 0 0 1 0 0 MIF4GD 57409 broad.mit.edu 37 17 73265518 73265518 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:73265518C>G ENST00000577542.1 - 3 377 c.115G>C c.(115-117)Gag>Cag p.E39Q MIF4GD_ENST00000579297.1_Missense_Mutation_p.E39Q|MIF4GD_ENST00000325102.8_Intron|MIF4GD_ENST00000245551.5_Missense_Mutation_p.E32Q|MIF4GD_ENST00000578305.1_Intron|MIF4GD_ENST00000580571.1_Intron|MIF4GD_ENST00000579119.1_Intron A9UHW6 MI4GD_HUMAN MIF4G domain containing 27 MIF4G. regulation of translation|RNA metabolic process cytoplasm|nucleus protein C-terminus binding breast(2)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1) 10 all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07) all cancers(21;3.02e-07)|Epithelial(20;2.92e-06) TCTTCTGTCTCAAAGCAGGCA 0.483000 26 71 0 0 1 0 0 LRRFIP2 9209 broad.mit.edu 37 3 37163021 37163021 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:37163021C>T ENST00000421307.1 - 7 714 c.292G>A c.(292-294)Gag>Aag p.E98K LRRFIP2_ENST00000336686.4_Missense_Mutation_p.E98K|LRRFIP2_ENST00000421276.2_Intron|LRRFIP2_ENST00000354379.4_Intron|LRRFIP2_ENST00000396428.2_Missense_Mutation_p.E81K|LRRFIP2_ENST00000440230.1_Intron NM_006309.2 NP_006300.1 Q9Y608 LRRF2_HUMAN leucine rich repeat (in FLII) interacting protein 2 98 DVL3-binding. Wnt receptor signaling pathway LRR domain binding p.0?(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 AATGCATCCTCAACTCCCTGA 0.348000 21 37 0 0 1 0 0 FUS 2521 broad.mit.edu 37 16 31195546 31195546 + Nonsense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:31195546C>T ENST00000254108.7 + 5 457 c.352C>T c.(352-354)Cag>Tag p.Q118* FUS_ENST00000568685.1_Nonsense_Mutation_p.Q118*|FUS_ENST00000380244.3_Nonsense_Mutation_p.Q117* NM_001170634.1|NM_001170937.1|NM_004960.3 NP_001164105.1|NP_001164408.1|NP_004951.1 P35637 FUS_HUMAN fused in sarcoma 118 Gln/Gly/Ser/Tyr-rich. cell death|nuclear mRNA splicing, via spliceosome nucleoplasm DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158) breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1) 22 Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121) GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209) TAGCAGTTCTCAGAGCAGCAG 0.488000 T """DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1""" """liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma""" 58 101 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10969115 10969115 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr21:10969115C>T ENST00000361285.4 - 7 462 c.133G>A c.(133-135)Gaa>Aaa p.E45K TPTE_ENST00000342420.5_Intron|TPTE_ENST00000298232.7_Intron|TPTE_ENST00000415664.2_Intron NM_199261.2 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 45 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CCTTTAAATTCACTTGTGTGT 0.468000 26 100 0 0 1 0 0 PNPLA1 285848 broad.mit.edu 37 6 36261955 36261955 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:36261955C>G ENST00000312917.5 + 4 374 c.235C>G c.(235-237)Ctg>Gtg p.L79V PNPLA1_ENST00000388715.3_Intron|PNPLA1_ENST00000394571.2_Intron Q8N8W4 PLPL1_HUMAN patatin-like phospholipase domain containing 1 168 Patatin. lipid catabolic process hydrolase activity breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 22 ATTTCTCACTCTGCCCCCACA 0.602000 17 34 0 0 1 0 0 MICAL2 9645 broad.mit.edu 37 11 12241929 12241929 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:12241929C>T ENST00000256194.4 + 9 1418 c.1130C>T c.(1129-1131)tCa>tTa p.S377L MICAL2_ENST00000527546.1_Missense_Mutation_p.S377L|MICAL2_ENST00000537344.1_Missense_Mutation_p.S377L|MICAL2_ENST00000342902.5_Missense_Mutation_p.S377L|MICAL2_ENST00000379612.3_Missense_Mutation_p.S377L NM_001282663.1|NM_014632.2 NP_001269592.1|NP_055447.1 O94851 MICA2_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 2 377 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 47 Epithelial(150;0.00552) ATGTATGCCTCAGAGAACGCG 0.597000 31 62 0 0 1 0 0 RPS9 6203 broad.mit.edu 37 19 54710425 54710425 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:54710425C>T ENST00000402367.1 + 5 527 c.412C>T c.(412-414)Cgg>Tgg p.R138W RPS9_ENST00000391753.2_Intron|RPS9_ENST00000441429.1_3'UTR|RPS9_ENST00000391752.1_Intron|RPS9_ENST00000302907.4_Intron|RPS9_ENST00000391751.3_Intron P46781 RS9_HUMAN ribosomal protein S9 138 S4 RNA-binding. endocrine pancreas development|positive regulation of cell proliferation|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleolus protein binding|rRNA binding|structural constituent of ribosome|translation regulator activity NS(1)|breast(1)|kidney(11)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1) 20 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.18) ATGCAGCCCTCGGAGGTGATG 0.592000 4 13 0 0 1 0 0 CGN 57530 broad.mit.edu 37 1 151496787 151496787 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:151496787C>T ENST00000271636.7 + 7 1487 c.1354C>T c.(1354-1356)Ctg>Ttg p.L452L NM_020770.2 NP_065821.1 Q9P2M7 CING_HUMAN cingulin 446 Glu-rich. myosin complex|tight junction actin binding|motor activity NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) GCAGAACAAGCTGAAACATGT 0.517000 19 30 0 0 1 0 0 COL18A1 80781 broad.mit.edu 37 21 46932166 46932166 + Nonsense_Mutation SNP G G T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr21:46932166G>T ENST00000359759.4 + 41 5140 c.5119G>T c.(5119-5121)Gag>Tag p.E1707* COL18A1_ENST00000400337.2_Nonsense_Mutation_p.E1292*|COL18A1_ENST00000355480.5_Nonsense_Mutation_p.E1472*|SLC19A1_ENST00000567670.1_Intron P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 1707 Nonhelical region 11 (NC11). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) GAGCTACTGTGAGACGTGGCG 0.701000 18 7 1.55795e-14 1.60864e-14 1 1 0 SNRPA1 6627 broad.mit.edu 37 15 101827883 101827883 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr15:101827883G>A ENST00000254193.6 - 4 406 c.334C>T c.(334-336)Ctc>Ttc p.L112F SNRPA1_ENST00000560856.1_5'UTR NM_003090.2 NP_003081.2 P09661 RU2A_HUMAN small nuclear ribonucleoprotein polypeptide A' 112 catalytic step 2 spliceosome|nucleoplasm|U2 snRNP protein binding|RNA binding endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) AGCGATTTGAGAGATGCCAGA 0.403000 10 43 0 0 1 0 0 RBBP8 5932 broad.mit.edu 37 18 20569211 20569211 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr18:20569211C>T ENST00000399722.2 + 9 1088 c.737C>T c.(736-738)cCt>cTt p.P246L RBBP8_ENST00000399725.2_Missense_Mutation_p.P246L|RBBP8_ENST00000360790.5_Missense_Mutation_p.P246L|RBBP8_ENST00000327155.5_Missense_Mutation_p.P246L NM_203291.1 NP_976036.1 Q99708 COM1_HUMAN retinoblastoma binding protein 8 246 cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter nucleus damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 24 all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19) OV - Ovarian serous cystadenocarcinoma(1;0.00196) AGCTATACCCCTGATAAGTCA 0.303000 Homologous recombination 18 41 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13716782 13716782 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr12:13716782C>T ENST00000609686.1 - 13 3599 c.3390G>A c.(3388-3390)cgG>cgA p.R1130R NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GGTAGAAGTCCCGTAGCCCTT 0.592000 39 49 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29628282 29628282 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr20:29628282G>A ENST00000278882.3 + 6 664 c.284G>A c.(283-285)gGg>gAg p.G95E FRG1B_ENST00000439954.2_Missense_Mutation_p.G100E|FRG1B_ENST00000358464.4_Missense_Mutation_p.G95E endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AATGAAGCAGGGGACATAGAA 0.373000 4 115 0 0 1 0 0 KIF26A 26153 broad.mit.edu 37 14 104639559 104639559 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr14:104639559C>T ENST00000315264.7 + 7 1627 c.1249C>T c.(1249-1251)Ccc>Tcc p.P417S KIF26A_ENST00000423312.2_Missense_Mutation_p.P556S Q9ULI4 KI26A_HUMAN kinesin family member 26A 556 Kinesin-motor. blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 21 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) GCGGGAGGACCCCGTGTGTGG 0.711000 26 46 0 0 1 0 0 PRRC2B 84726 broad.mit.edu 37 9 134349001 134349001 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:134349001C>T ENST00000357304.4 + 14 2269 c.2214C>T c.(2212-2214)atC>atT p.I738I PRRC2B_ENST00000405995.1_Silent_p.I738I|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Silent_p.I738I NM_013318.3 NP_037450.2 Q5JSZ5 PRC2B_HUMAN proline-rich coiled-coil 2B 738 protein binding cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 TGACCCCCATCGACTCACCCC 0.597000 17 21 0 0 1 0 0 EXOC4 60412 broad.mit.edu 37 7 132937899 132937899 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr7:132937899C>T ENST00000253861.4 + 1 71 c.42C>T c.(40-42)gtC>gtT p.V14V EXOC4_ENST00000393161.2_Silent_p.V14V NM_021807.3 NP_068579.3 Q96A65 EXOC4_HUMAN exocyst complex component 4 14 vesicle docking involved in exocytosis exocyst protein N-terminus binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 50 Esophageal squamous(399;0.129) GAAGCACAGTCAGCAAAAGCA 0.607000 59 80 0 0 1 0 0 DHX37 57647 broad.mit.edu 37 12 125470711 125470711 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr12:125470711C>T ENST00000308736.2 - 2 305 c.207G>A c.(205-207)aaG>aaA p.K69K NM_032656.3 NP_116045.2 Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 69 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3) 65 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) TCAGAGGCTTCTTCTCCTTCT 0.512000 44 99 0 0 1 0 0 RNF213 57674 broad.mit.edu 37 17 78293122 78293122 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:78293122C>T ENST00000319921.4 + 17 3175 c.3034C>T c.(3034-3036)Ctc>Ttc p.L1012F RNF213_ENST00000456466.1_Intron|RNF213_ENST00000582970.1_Intron|RNF213_ENST00000508628.2_Intron NM_020954.3 NP_066005.2 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) GGTGAACAATCTCTCCTCCTG 0.552000 53 85 0 0 1 0 0 HRASLS5 117245 broad.mit.edu 37 11 63258376 63258376 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:63258376G>A ENST00000540857.1 - 1 263 c.131C>T c.(130-132)tCa>tTa p.S44L HRASLS5_ENST00000301790.4_Missense_Mutation_p.S44L|HRASLS5_ENST00000539221.1_Missense_Mutation_p.S44L NM_001146728.1|NM_001146729.1|NM_054108.3 NP_001140200.1|NP_001140201|NP_473449.1 Q96KN8 HRSL5_HUMAN HRAS-like suppressor family, member 5 44 endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1) 14 GGGCACAGCTGAACGTCTGAG 0.642000 6 24 0 0 1 0 0 DNTTIP1 116092 broad.mit.edu 37 20 44433831 44433831 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr20:44433831C>T ENST00000372622.3 + 9 718 c.650C>T c.(649-651)tCt>tTt p.S217F NM_052951.2 NP_443183.1 Q9H147 TDIF1_HUMAN deoxynucleotidyltransferase, terminal, interacting protein 1 217 nucleus breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1) 9 Myeloproliferative disorder(115;0.0122) GTGTTGGGATCTCGAGCCAAC 0.463000 83 126 0 0 1 0 0 CNOT1 23019 broad.mit.edu 37 16 58608568 58608568 + Nonsense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:58608568G>A ENST00000317147.5 - 16 2256 c.1924C>T c.(1924-1926)Caa>Taa p.Q642* CNOT1_ENST00000441024.2_Nonsense_Mutation_p.Q642*|CNOT1_ENST00000569240.1_Nonsense_Mutation_p.Q642* NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 642 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) GGAGGAAGTTGAGCACTTTTG 0.433000 17 68 0 0 1 0 0 RASGRF2 5924 broad.mit.edu 37 5 80376426 80376426 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr5:80376426G>C ENST00000265080.4 + 7 1046 c.979G>C c.(979-981)Gat>Cat p.D327H RASGRF2_ENST00000502677.1_3'UTR NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 327 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) TGATCTGTTTGATATTTTGCT 0.433000 33 67 0 0 1 0 0 PARVB 29780 broad.mit.edu 37 22 44489833 44489833 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr22:44489833G>C ENST00000338758.7 + 2 201 c.138G>C c.(136-138)aaG>aaC p.K46N PARVB_ENST00000404989.1_Missense_Mutation_p.K9N|PARVB_ENST00000477795.1_3'UTR|PARVB_ENST00000406477.3_Missense_Mutation_p.K79N NM_013327.4 NP_037459.2 Q9HBI1 PARVB_HUMAN parvin, beta cell adhesion|cell junction assembly cytoskeleton|cytosol|focal adhesion actin binding NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 25 Ovarian(80;0.0246)|all_neural(38;0.0423) AAGAAGGCAAGAATGCCATCA 0.562000 34 69 0 0 1 0 0 TBC1D9B 23061 broad.mit.edu 37 5 179321393 179321393 + Silent SNP C C A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr5:179321393C>A ENST00000356834.3 - 4 607 c.570G>T c.(568-570)ggG>ggT p.G190G TBC1D9B_ENST00000355235.3_Silent_p.G190G NM_198868.2 NP_942568.2 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 190 GRAM 1. integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 28 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CACCTTCCTTCCCCAGCAGGA 0.647000 12 18 0.010729 0.0107819 1 1 0 CTNNA2 1496 broad.mit.edu 37 2 79878723 79878723 + Missense_Mutation SNP C C A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:79878723C>A ENST00000466387.1 + 6 765 c.41C>A c.(40-42)cCc>cAc p.P14H CTNNA2_ENST00000541047.1_Missense_Mutation_p.P14H|CTNNA2_ENST00000540488.1_Missense_Mutation_p.P14H|CTNNA2_ENST00000409266.1_Missense_Mutation_p.P14H|CTNNA2_ENST00000402739.4_Missense_Mutation_p.P14H|CTNNA2_ENST00000361291.4_Missense_Mutation_p.P48H|CTNNA2_ENST00000496558.1_Missense_Mutation_p.P14H P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 14 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 AAATGGGACCCCAAAAGTTTG 0.398000 30 43 7.11191e-15 7.34863e-15 1 1 0 SLC43A2 124935 broad.mit.edu 37 17 1496491 1496491 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:1496491G>A ENST00000301335.5 - 6 672 c.584C>T c.(583-585)cCa>cTa p.P195L SLC43A2_ENST00000571650.1_Missense_Mutation_p.P195L|SLC43A2_ENST00000412517.3_Missense_Mutation_p.P58L|SLC43A2_ENST00000382147.4_Missense_Mutation_p.P195L|SLC43A2_ENST00000574274.1_5'UTR NM_001284498.1|NM_001284499.1 NP_001271427.1|NP_001271428.1 Q8N370 LAT4_HUMAN solute carrier family 43 (amino acid system L transporter), member 2 cellular nitrogen compound metabolic process|ion transport integral to membrane|plasma membrane endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1) 12 UCEC - Uterine corpus endometrioid carcinoma (25;0.0883) CTTGATTCCTGGAAAGGTGAC 0.552000 8 8 0 0 1 0 0 UBXN8 7993 broad.mit.edu 37 8 30614338 30614338 + RNA SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr8:30614338G>C ENST00000519246.1 + 0 661 O00124 UBXN8_HUMAN UBX domain protein 8 single fertilization central_nervous_system(1)|lung(2) 3 AAGCAGCAAAGAGCCAGAACT 0.413000 22 36 0 0 1 0 0 EPB41L4A 64097 broad.mit.edu 37 5 111519795 111519795 + Nonsense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr5:111519795G>A ENST00000261486.5 - 18 1816 c.1540C>T c.(1540-1542)Cag>Tag p.Q514* EPB41L4A_ENST00000507810.1_5'UTR NM_022140.3 NP_071423 Q9HCS5 E41LA_HUMAN erythrocyte membrane protein band 4.1 like 4A 514 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1) 34 all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135) OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791) GCTTCCCACTGAGGCGCTGAA 0.453000 18 46 0 0 1 0 0 ST6GALNAC1 55808 broad.mit.edu 37 17 74625185 74625185 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:74625185C>T ENST00000156626.7 - 2 939 c.740G>A c.(739-741)aGa>aAa p.R247K ST6GALNAC1_ENST00000590878.1_5'UTR NM_018414.3 NP_060884.1 Q9NSC7 SIA7A_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 247 protein glycosylation integral to Golgi membrane alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 22 TCTTTGGTTTCTCTGCGTCGT 0.532000 35 76 0 0 1 0 0 EFTUD1 79631 broad.mit.edu 37 15 82545072 82545072 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr15:82545072G>A ENST00000268206.7 - 4 372 c.204C>T c.(202-204)atC>atT p.I68I EFTUD1_ENST00000359445.3_Intron NM_024580.5 NP_078856.4 Q7Z2Z2 ETUD1_HUMAN elongation factor Tu GTP binding domain containing 1 68 mature ribosome assembly GTP binding|GTPase activity|ribosome binding|translation elongation factor activity cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 ATTTCATAGTGATCCCTCGGA 0.383000 16 19 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1097901 1097901 + Nonsense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:1097901C>T ENST00000441003.2 + 36 7021 c.6994C>T c.(6994-6996)Cag>Tag p.Q2332* MUC2_ENST00000361558.6_3'UTR NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 4694 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) TCCCCTCTGCCAGCTCATCAA 0.667000 7 10 0 0 1 0 0 PHF10 55274 broad.mit.edu 37 6 170110477 170110477 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:170110477G>A ENST00000339209.4 - 9 1091 c.968C>T c.(967-969)tCt>tTt p.S323F PHF10_ENST00000366780.4_Missense_Mutation_p.S321F NM_018288.3|NM_133325.2 NP_060758.2|NP_579866.2 Q8WUB8 PHF10_HUMAN PHD finger protein 10 323 Essential to induce neural progenitor proliferation (By similarity). nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent npBAF complex zinc ion binding endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1) 14 Breast(66;5.08e-05)|Ovarian(120;0.208) OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176) TACATTGCCAGAGGAGCTGTC 0.398000 31 28 0 0 1 0 0 MAP2K2 5605 broad.mit.edu 37 19 4110574 4110574 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:4110574G>A ENST00000262948.5 - 3 636 c.383C>T c.(382-384)cCg>cTg p.P128L MAP2K2_ENST00000394867.4_Missense_Mutation_p.P31L|MAP2K2_ENST00000599345.1_5'UTR NM_030662.3 NP_109587.1 P36507 MP2K2_HUMAN mitogen-activated protein kinase kinase 2 128 Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|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|extracellular region ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) CACGATGTACGGCGAGTTGCA 0.622000 39 59 0 0 1 0 0 CD109 135228 broad.mit.edu 37 6 74407261 74407261 + Silent SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:74407261C>G ENST00000437994.2 + 2 644 c.213C>G c.(211-213)gtC>gtG p.V71V CD109_ENST00000422508.2_Silent_p.V71V|CD109_ENST00000287097.5_Silent_p.V71V NM_001159587.1|NM_133493.3 NP_001153059.1|NP_598000.2 Q6YHK3 CD109_HUMAN CD109 molecule 71 anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 ACCTCACTGTCTCTGTCCTGG 0.458000 36 137 0 0 1 0 0 NAA10 8260 broad.mit.edu 37 X 153199422 153199422 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chrX:153199422C>T ENST00000464845.1 - 3 471 c.153G>A c.(151-153)aaG>aaA p.K51K NAA10_ENST00000370015.4_Silent_p.K51K|NAA10_ENST00000393710.3_5'UTR|NAA10_ENST00000370009.1_Silent_p.K51K|NAA10_ENST00000393712.3_Silent_p.K51K NM_001256120.1|NM_003491.3 NP_001243049.1|NP_003482.1 P41227 NAA10_HUMAN N(alpha)-acetyltransferase 10, NatA catalytic subunit 51 Interaction with NAA15.|N-acetyltransferase. DNA packaging|internal protein amino acid acetylation|N-terminal protein amino acid acetylation cytoplasm|nucleus peptide alpha-N-acetyltransferase activity|protein binding breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1) 10 ACCCCACAATCTTCCCATTCT 0.468000 4 102 0 0 1 0 0 C7orf26 79034 broad.mit.edu 37 7 6639727 6639727 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr7:6639727C>T ENST00000344417.5 + 4 1115 c.848C>T c.(847-849)tCc>tTc p.S283F C7orf26_ENST00000472693.1_3'UTR|C7orf26_ENST00000359073.5_Intron NM_024067.2 NP_076972.2 Q96N11 CG026_HUMAN chromosome 7 open reading frame 26 283 endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1) 11 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986) GACAGAGACTCCCACCTCTTG 0.562000 30 30 0 0 1 0 0 ZNF236 7776 broad.mit.edu 37 18 74607200 74607200 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr18:74607200C>G ENST00000253159.8 + 10 1841 c.1643C>G c.(1642-1644)tCc>tGc p.S548C ZNF236_ENST00000320610.9_Missense_Mutation_p.S550C NM_007345.3 NP_031371.3 Q9UL36 ZN236_HUMAN zinc finger protein 236 548 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 94 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) AAGAGCTTCTCCACCTCTGGC 0.617000 25 47 0 0 1 0 0 SERPINF1 5176 broad.mit.edu 37 17 1679943 1679943 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:1679943G>A ENST00000254722.4 + 7 1067 c.904G>A c.(904-906)Gac>Aac p.D302N NM_002615.5 NP_002606.3 P36955 PEDF_HUMAN serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 302 cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis extracellular space|melanosome serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 16 TCATGACATAGACCGAGAACT 0.517000 99 60 0 0 1 0 0 NUF2 83540 broad.mit.edu 37 1 163306609 163306609 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:163306609G>A ENST00000271452.3 + 6 685 c.406G>A c.(406-408)Gaa>Aaa p.E136K NUF2_ENST00000524800.1_Missense_Mutation_p.E136K|NUF2_ENST00000367900.3_Missense_Mutation_p.E136K|NUF2_ENST00000490881.1_3'UTR NM_145697.2 NP_663735.2 Q9BZD4 NUF2_HUMAN NUF2, NDC80 kinetochore complex component 136 Interaction with the N-terminus of NDC80. cell division|chromosome segregation|mitotic prometaphase condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 all_hematologic(923;0.101) AGCATGCCGTGAAACGTATAT 0.313000 5 34 0 0 1 0 0 TMEM108 66000 broad.mit.edu 37 3 133114727 133114727 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:133114727G>A ENST00000321871.6 + 6 1835 c.1625G>A c.(1624-1626)cGc>cAc p.R542H TMEM108_ENST00000508711.1_Missense_Mutation_p.R72H|TMEM108_ENST00000393130.3_Missense_Mutation_p.R542H NM_001136469.1|NM_023943.2 NP_001129941.1|NP_076432.1 Q6UXF1 TM108_HUMAN transmembrane protein 108 542 integral to membrane p.R542H(1) endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 TCAGAGCCCCGCTCCCCAGCC 0.507000 17 36 0 0 1 0 0 EFS 10278 broad.mit.edu 37 14 23828631 23828631 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr14:23828631G>A ENST00000216733.3 - 4 1663 c.1056C>T c.(1054-1056)gtC>gtT p.V352V EFS_ENST00000351354.3_Silent_p.V259V|EFS_ENST00000429593.2_Silent_p.V183V NM_005864.2 NP_005855.1 O43281 EFS_HUMAN embryonal Fyn-associated substrate 352 cell adhesion|intracellular signal transduction cytoplasm SH3 domain binding endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2) 16 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00649) GATCCCCCTCGACCTTGGGGC 0.662000 27 65 0 0 1 0 0 BLMH 642 broad.mit.edu 37 17 28601168 28601168 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:28601168G>A ENST00000261714.6 - 7 867 c.693C>T c.(691-693)ttC>ttT p.F231F BLMH_ENST00000582669.1_5'UTR|BLMH_ENST00000394819.3_Silent_p.F144F NM_000386.3 NP_000377.1 Q13867 BLMH_HUMAN bleomycin hydrolase 231 proteolysis cytoplasm|nucleus aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1) 13 ATTCCCAGGTGAATGTCTCTG 0.433000 31 76 0 0 1 0 0 CC2D1A 54862 broad.mit.edu 37 19 14037855 14037855 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:14037855G>C ENST00000318003.7 + 21 2431 c.2190G>C c.(2188-2190)caG>caC p.Q730H CC2D1A_ENST00000589606.1_Missense_Mutation_p.Q730H NM_017721.4 NP_060191.3 Q6P1N0 C2D1A_HUMAN coiled-coil and C2 domain containing 1A 730 C2. positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|plasma membrane DNA binding|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 27 OV - Ovarian serous cystadenocarcinoma(19;3.49e-23) GGGCCATCCAGACCAAGGGCA 0.602000 25 43 0 0 1 0 0 EDEM3 80267 broad.mit.edu 37 1 184671965 184671965 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:184671965G>C ENST00000318130.8 - 19 2635 c.2369C>G c.(2368-2370)tCt>tGt p.S790C EDEM3_ENST00000367512.3_Missense_Mutation_p.S747C|EDEM3_ENST00000466392.1_5'UTR NM_025191.3 NP_079467.3 Q9BZQ6 EDEM3_HUMAN ER degradation enhancer, mannosidase alpha-like 3 790 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 TGCTTTATCAGAGAGGAGCAC 0.368000 10 32 0 0 1 0 0 IKBIP 121457 broad.mit.edu 37 12 99028079 99028079 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr12:99028079C>G ENST00000299157.4 - 2 665 c.292G>C c.(292-294)Gaa>Caa p.E98Q IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000342502.2_Missense_Mutation_p.E98Q NM_153687.3 NP_710154.1 Q70UQ0 IKIP_HUMAN IKBKB interacting protein 98 induction of apoptosis|response to X-ray endoplasmic reticulum membrane|integral to membrane protein binding NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2) 6 ATTACCTTTTCTGAAATTAAA 0.363000 12 25 0 0 1 0 0 NBPF22P 285622 broad.mit.edu 37 5 85578701 85578701 + RNA SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr5:85578701G>C ENST00000590707.1 + 0 424 NR_003719.2 AGACCTCAAAGAGAAATTCCT 0.458000 13 37 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120591103 120591103 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr12:120591103G>A ENST00000300648.6 - 33 3988 c.3976C>T c.(3976-3978)Ctg>Ttg p.L1326L NM_006836.1 NP_006827 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 1326 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TGCTTGGCCAGAGAGCCCATC 0.577000 19 33 0 0 1 0 0 AGO3 192669 broad.mit.edu 37 1 36437683 36437683 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:36437683C>T ENST00000373191.4 + 4 720 c.371C>T c.(370-372)tCa>tTa p.S124L AGO3_ENST00000397828.2_Missense_Mutation_p.S124L|AGO3_ENST00000246314.6_5'UTR|AGO3_ENST00000324350.5_Missense_Mutation_p.S124L NM_024852.3 NP_079128.2 argonaute RISC catalytic component 3 TTCAAGGTGTCAATCAAATTT 0.448000 12 21 0 0 1 0 0 TMPRSS9 360200 broad.mit.edu 37 19 2405465 2405465 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:2405465G>A ENST00000332578.3 + 6 662 c.662G>A c.(661-663)cGa>cAa p.R221Q NM_182973.1 NP_892018.1 Q7Z410 TMPS9_HUMAN transmembrane protease, serine 9 221 Peptidase S1 1. proteolysis integral to plasma membrane serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 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) GCCAGCCTTCGAGAGAACAAG 0.617000 40 89 0 0 1 0 0 IPO11 51194 broad.mit.edu 37 5 61811326 61811326 + Nonsense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr5:61811326C>T ENST00000325324.6 + 20 2063 c.1894C>T c.(1894-1896)Cag>Tag p.Q632* IPO11_ENST00000409296.3_Nonsense_Mutation_p.Q672*|KIF2A_ENST00000509663.2_3'UTR NM_016338.4 NP_057422.3 Q9UI26 IPO11_HUMAN importin 11 632 cytoplasm|nucleus protein binding endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2) 30 Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077) Lung(70;0.0613) TCATCTTGTTCAGGTAAGTCA 0.313000 25 46 0 0 1 0 0 CORO6 84940 broad.mit.edu 37 17 27944561 27944561 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:27944561C>T ENST00000345068.5 - 6 923 c.710G>A c.(709-711)gGc>gAc p.G237D CORO6_ENST00000445145.2_Intron|CORO6_ENST00000580212.1_Intron|CORO6_ENST00000577909.1_Intron|CORO6_ENST00000456796.3_Intron|CORO6_ENST00000584969.1_Intron|CORO6_ENST00000388767.3_Missense_Mutation_p.G237D|RP11-68I3.2_ENST00000581474.1_RNA Q6QEF8 CORO6_HUMAN coronin 6 237 actin cytoskeleton organization actin cytoskeleton actin filament binding breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2) 14 GCGGGTGAAGCCCGTGGTGAA 0.682000 16 31 0 0 1 0 0 SON 6651 broad.mit.edu 37 21 34922529 34922529 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr21:34922529C>T ENST00000356577.4 + 3 1467 c.992C>T c.(991-993)tCa>tTa p.S331L SON_ENST00000381679.4_Missense_Mutation_p.S331L|SON_ENST00000300278.4_Missense_Mutation_p.S331L|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.S331L NM_138927.1 NP_620305 P18583 SON_HUMAN SON DNA binding protein 331 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 TTTCCAGAGTCATCTGCAATT 0.488000 OREG0003564 type=REGULATORY REGION|Gene=AK074269|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 38 52 0 0 1 0 0 MON2 23041 broad.mit.edu 37 12 62931484 62931484 + Nonsense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr12:62931484C>T ENST00000393630.3 + 16 2507 c.2116C>T c.(2116-2118)Cag>Tag p.Q706* MON2_ENST00000393629.2_Nonsense_Mutation_p.Q706*|MON2_ENST00000552115.1_Nonsense_Mutation_p.Q706*|MON2_ENST00000393632.2_Nonsense_Mutation_p.Q706*|MON2_ENST00000546600.1_Nonsense_Mutation_p.Q706*|MON2_ENST00000280379.6_Nonsense_Mutation_p.Q706*|MON2_ENST00000552738.1_Nonsense_Mutation_p.Q683* NM_001278470.1|NM_001278472.1 NP_001265399.1|NP_001265401.1 Q7Z3U7 MON2_HUMAN MON2 homolog (S. cerevisiae) 706 Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 57 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) GGCAACTCTTCAGGTATGTAA 0.383000 28 54 0 0 1 0 0 TBRG4 9238 broad.mit.edu 37 7 45140930 45140930 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr7:45140930C>T ENST00000258770.3 - 10 1842 c.1721G>A c.(1720-1722)cGa>cAa p.R574Q TBRG4_ENST00000494076.1_Missense_Mutation_p.R574Q|TBRG4_ENST00000395655.4_Missense_Mutation_p.R464Q|TBRG4_ENST00000361278.3_Missense_Mutation_p.R464Q NM_004749.3 NP_004740.2 Q969Z0 TBRG4_HUMAN transforming growth factor beta regulator 4 574 RAP. apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation mitochondrion ATP binding|protein binding|protein kinase activity p.R574L(1) cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2) 17 GTCCTTGCTTCGGCTGTTGAA 0.587000 40 50 0 0 1 0 0 TCF19 6941 broad.mit.edu 37 6 31127453 31127453 + Nonsense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:31127453G>A ENST00000376257.3 + 2 961 c.207G>A c.(205-207)tgG>tgA p.W69* TCF19_ENST00000376255.4_Nonsense_Mutation_p.W69* NM_007109.2 NP_009040.2 Q9Y242 TCF19_HUMAN transcription factor 19 69 FHA. cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1) 9 GTGATGACTGGAGGGTCAGCC 0.642000 18 32 0 0 1 0 0 XYLB 9942 broad.mit.edu 37 3 38437034 38437034 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:38437034C>T ENST00000207870.3 + 16 1420 c.1330C>T c.(1330-1332)Cac>Tac p.H444Y XYLB_ENST00000542835.1_Missense_Mutation_p.H307Y|XYLB_ENST00000472721.1_3'UTR NM_005108.3 NP_005099.2 O75191 XYLB_HUMAN xylulokinase homolog (H. influenzae) 444 D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process ATP binding|xylulokinase activity endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405) AGGAGCATCTCACAATAGAGA 0.453000 15 28 0 0 1 0 0 FAM193A 8603 broad.mit.edu 37 4 2696719 2696719 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr4:2696719C>T ENST00000324666.5 + 15 2617 c.2266C>T c.(2266-2268)Cca>Tca p.P756S FAM193A_ENST00000545951.1_Missense_Mutation_p.P756S|FAM193A_ENST00000502458.1_Missense_Mutation_p.P778S|FAM193A_ENST00000505311.1_Missense_Mutation_p.P756S|FAM193A_ENST00000382839.3_Missense_Mutation_p.P756S NM_001256666.1 NP_001243595.1 P78312 F193A_HUMAN family with sequence similarity 193, member A 756 NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 TGTCTACGACCCACAGCAGGA 0.597000 5 25 0 0 1 0 0 PLVAP 83483 broad.mit.edu 37 19 17476226 17476226 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:17476226C>T ENST00000252590.4 - 3 1109 c.1048G>A c.(1048-1050)Gag>Aag p.E350K NM_031310.1 NP_112600.1 Q9BX97 PLVAP_HUMAN plasmalemma vesicle associated protein 350 caveola|integral to membrane|perinuclear region of cytoplasm cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 ACCGCCTTCTCCTCCAGCGCT 0.622000 37 90 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9058659 9058659 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:9058659G>A ENST00000397910.4 - 3 28990 c.28787C>T c.(28786-28788)tCa>tTa p.S9596L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9598 Ser-rich.|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 CTCTGTGGATGAGGTGATGTC 0.517000 26 28 0 0 1 0 0 C1ORF220 400798 broad.mit.edu 37 1 178514972 178514972 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:178514972C>G ENST00000367636.4 + 2 696 c.358C>G c.(358-360)Cat>Gat p.H120D C1orf220_ENST00000521244.1_3'UTR|C1orf220_ENST00000319387.2_3'UTR ATTATCATTTCATGCCCTAAA 0.428000 17 27 0 0 1 0 0 TNS3 64759 broad.mit.edu 37 7 47344438 47344438 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr7:47344438C>T ENST00000398879.1 - 21 3180 c.2814G>A c.(2812-2814)agG>agA p.R938R TNS3_ENST00000355730.3_Silent_p.R698R|TNS3_ENST00000311160.9_Silent_p.R938R Q68CZ2 TENS3_HUMAN tensin 3 938 focal adhesion protein binding NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 ACCTCTCTCTCCTCTGCCCAG 0.552000 21 22 0 0 1 0 0 USP31 57478 broad.mit.edu 37 16 23080076 23080076 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:23080076G>A ENST00000219689.7 - 16 3349 c.3350C>T c.(3349-3351)tCa>tTa p.S1117L USP31_ENST00000567975.1_Missense_Mutation_p.S410L NM_020718.3 NP_065769.3 Q70CQ4 UBP31_HUMAN ubiquitin specific peptidase 31 1117 Ser-rich. ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 57 GBM - Glioblastoma multiforme(48;0.0187) GGCCGAGGCTGACTTCTGCTT 0.587000 24 111 0 0 1 0 0 PPAN-P2RY11 692312 broad.mit.edu 37 19 10220901 10220901 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:10220901G>C ENST00000428358.1 + 8 973 c.801G>C c.(799-801)caG>caC p.Q267H PPAN_ENST00000253107.7_Missense_Mutation_p.Q267H|PPAN_ENST00000556468.1_Missense_Mutation_p.Q267H|PPAN_ENST00000393793.1_Missense_Mutation_p.Q214H|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.Q267H NM_001040664.2|NM_001198690.1 NP_001035754.1|NP_001185619.1 Q9NQ55 SSF1_HUMAN 267 Brix. RNA splicing nucleolus protein binding breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 31 OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05) GGGCCCAGCAGAGTGCAGTGC 0.692000 10 31 0 0 1 0 0 DGCR6 8214 broad.mit.edu 37 22 18893891 18893891 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr22:18893891G>A ENST00000608842.1 + 1 26 c.4G>A c.(4-6)Gag>Aag p.E2K DGCR6_ENST00000413981.1_Intron|DGCR6_ENST00000331444.6_Missense_Mutation_p.E2K Q14129 DGCR6_HUMAN DiGeorge syndrome critical region gene 6 MERYAGALEEVA -> PKGAKAGYQPRG (in Ref. 3). cell adhesion|organ morphogenesis nucleus|proteinaceous extracellular matrix central_nervous_system(1)|cervix(1)|upper_aerodigestive_tract(1) 3 CCGCGCCATGGAGCGCTACGC 0.701000 4 6 0 0 1 0 0 ZNF664 144348 broad.mit.edu 37 12 124497235 124497235 + Nonsense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr12:124497235C>T ENST00000539644.1 + 6 2374 c.544C>T c.(544-546)Cag>Tag p.Q182* FAM101A_ENST00000545615.1_Intron|ZNF664_ENST00000538932.2_Nonsense_Mutation_p.Q182*|ZNF664_ENST00000337815.4_Nonsense_Mutation_p.Q182*|ZNF664_ENST00000392404.3_Nonsense_Mutation_p.Q182* Q8N3J9 ZN664_HUMAN zinc finger protein 664 182 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|large_intestine(5)|lung(6)|skin(1) 13 all_neural(191;0.101)|Medulloblastoma(191;0.163) Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249) GGCGTTCAGTCAGAGTTCGAG 0.522000 35 122 0 0 1 0 0 MESP2 145873 broad.mit.edu 37 15 90321314 90321314 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr15:90321314G>A ENST00000341735.3 + 2 943 c.943G>A c.(943-945)Gag>Aag p.E315K MESP2_ENST00000560219.1_Missense_Mutation_p.E17K|MESP2_ENST00000558723.1_3'UTR NM_001039958.1 NP_001035047.1 Q0VG99 MESP2_HUMAN mesoderm posterior 2 homolog (mouse) 315 Notch signaling pathway nucleus DNA binding kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514) TGTGTCTCCAGAGCCCTGTCT 0.587000 7 38 0 0 1 0 0 RPS6KC1 26750 broad.mit.edu 37 1 213302993 213302993 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:213302993C>T ENST00000366960.3 + 6 746 c.596C>T c.(595-597)tCg>tTg p.S199L RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_Intron|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.S187L|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.S18L NM_012424.3 NP_036556.2 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 1 199 cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3) 43 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) AATCTTTCTTCGGATTCTTCA 0.433000 25 24 0 0 1 0 0 CDC25C 995 broad.mit.edu 37 5 137622921 137622921 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr5:137622921C>T ENST00000323760.6 - 11 1241 c.963G>A c.(961-963)ctG>ctA p.L321L CDC25C_ENST00000357274.3_Silent_p.L278L|CDC25C_ENST00000348983.3_Silent_p.L248L|CDC25C_ENST00000415130.2_Silent_p.L248L|CDC25C_ENST00000513970.1_Silent_p.L321L|CDC25C_ENST00000356505.3_Silent_p.L291L|CDC25C_ENST00000514555.1_Silent_p.L291L NM_001790.3 NP_001781.2 P30307 MPIP3_HUMAN cell division cycle 25C 321 Rhodanese. cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle cytosol|nucleoplasm protein tyrosine phosphatase activity|WW domain binding endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) ACTTCTCAATCAGACCCTGGA 0.493000 25 58 0 0 1 0 0 H3F3B 3021 broad.mit.edu 37 17 73775041 73775041 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:73775041G>A ENST00000254810.4 - 3 264 c.132C>T c.(130-132)ccC>ccT p.P44P H3F3B_ENST00000591890.1_Silent_p.P44P|H3F3B_ENST00000589599.1_Silent_p.P44P|H3F3B_ENST00000593254.1_Intron|H3F3B_ENST00000587560.1_Silent_p.P44P|H3F3B_ENST00000592643.1_Silent_p.P44P|H3F3B_ENST00000586607.1_Silent_p.P44P NM_005324.3 NP_005315.1 P84243 H33_HUMAN H3 histone, family 3B (H3.3B) 44 blood coagulation|nucleosome assembly nucleoplasm|nucleosome DNA binding large_intestine(1)|lung(4)|ovary(2)|skin(1) 8 all_cancers(13;1.5e-07) all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154) CCACGGTCCCGGGCCTGCAGC 0.662000 OREG0024740 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 56 0 0 1 0 0 CRABP2 1382 broad.mit.edu 37 1 156670374 156670374 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:156670374G>A ENST00000368222.3 - 3 480 c.326C>T c.(325-327)tCg>tTg p.S109L CRABP2_ENST00000368221.1_Missense_Mutation_p.S109L NM_001199723.1|NM_001878.3 NP_001186652.1|NP_001869.1 P29373 RABP2_HUMAN cellular retinoic acid binding protein 2 109 epidermis development|regulation of transcription, DNA-dependent|signal transduction cytoplasm|nucleus retinal binding|retinol binding|transporter activity endometrium(2)|lung(3)|upper_aerodigestive_tract(1) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) Alitretinoin(DB00523) TCTGGTCCACGAGGTCTTGGG 0.537000 10 58 0 0 1 0 0 ERBB2 2064 broad.mit.edu 37 17 37868208 37868208 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:37868208C>T ENST00000406381.2 + 10 1349 c.839C>T c.(838-840)tCc>tTc p.S280F ERBB2_ENST00000578199.1_Missense_Mutation_p.S280F|ERBB2_ENST00000584601.1_Missense_Mutation_p.S280F|ERBB2_ENST00000540147.1_Missense_Mutation_p.S280F|ERBB2_ENST00000445658.2_Missense_Mutation_p.S34F|ERBB2_ENST00000541774.1_Missense_Mutation_p.S295F|ERBB2_ENST00000540042.1_Missense_Mutation_p.S280F|ERBB2_ENST00000269571.5_Missense_Mutation_p.S310F|ERBB2_ENST00000584450.1_Missense_Mutation_p.S310F NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 310 cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.S310F(6)|p.S310Y(1) NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) GACGTGGGATCCTGCACCCTC 0.582000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 90 198 0 0 1 0 0 PARP1 142 broad.mit.edu 37 1 226589954 226589954 + Nonsense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:226589954G>A ENST00000366794.5 - 2 390 c.247C>T c.(247-249)Cag>Tag p.Q83* PARP1_ENST00000366792.1_Nonsense_Mutation_p.Q83*|PARP1_ENST00000366790.3_Nonsense_Mutation_p.Q83*|PARP1_ENST00000366791.5_Nonsense_Mutation_p.Q83* NM_001618.3 NP_001609.2 P09874 PARP1_HUMAN poly (ADP-ribose) polymerase 1 83 cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nuclear envelope|nucleolus|transcription factor complex DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 44 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) TTGACTTTCTGCTGGTCATCC 0.592000 Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA 14 65 0 0 1 0 0 SYCP1 6847 broad.mit.edu 37 1 115537623 115537623 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:115537623G>A ENST00000369522.3 + 32 3154 c.2914G>A c.(2914-2916)Gaa>Aaa p.E972K SYCP1_ENST00000369518.1_Missense_Mutation_p.E972K|SYCP1_ENST00000477590.1_3'UTR NM_001282541.1|NM_003176.2 NP_001269470.1|NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 972 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) AAAAGAAGCTGAAAAGTTATT 0.338000 9 51 0 0 1 0 0 SRSF9 8683 broad.mit.edu 37 12 120907260 120907260 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr12:120907260G>A ENST00000229390.3 - 1 336 c.153C>T c.(151-153)ctC>ctT p.L51L NM_003769.2 NP_003760.1 Q13242 SRSF9_HUMAN serine/arginine-rich splicing factor 9 51 RRM 1. mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|RNA binding cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1) 9 CGAAGGGCACGAGGCCGTGCC 0.687000 18 41 0 0 1 0 0 TYRO3 7301 broad.mit.edu 37 15 41865997 41865997 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr15:41865997G>A ENST00000263798.3 + 18 2490 c.2266G>A c.(2266-2268)Gag>Aag p.E756K TYRO3_ENST00000559066.1_Missense_Mutation_p.E711K NM_006293.3 NP_006284.2 Q06418 TYRO3_HUMAN TYRO3 protein tyrosine kinase 756 Protein kinase. integral to plasma membrane ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity p.E756Q(2)|p.E748Q(2) central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1) 43 all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117) ACAGCCTCCGGAGTGTATGGA 0.552000 37 36 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 4 153 0 0 1 0 0 TRIM27 5987 broad.mit.edu 37 6 28872291 28872291 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:28872291G>A ENST00000377199.3 - 8 1454 c.1098C>T c.(1096-1098)ttC>ttT p.F366F TRIM27_ENST00000377194.3_Intron NM_006510.4 NP_006501.1 P14373 TRI27_HUMAN tripartite motif containing 27 366 B30.2/SPRY. cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding endometrium(1)|large_intestine(2)|lung(6)|ovary(1) 10 TCCCGGCGATGAAGCATGGAG 0.517000 T RET papillary thyroid 6 43 0 0 1 0 0 MAP4 4134 broad.mit.edu 37 3 47896810 47896810 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:47896810G>A ENST00000426837.2 - 19 6711 c.6624C>T c.(6622-6624)ttC>ttT p.F2208F MAP4_ENST00000264724.11_Silent_p.F798F|MAP4_ENST00000360240.6_Silent_p.F1063F|MAP4_ENST00000383737.4_Silent_p.F722F|MAP4_ENST00000420772.2_Silent_p.F756F|MAP4_ENST00000395734.3_Silent_p.F1063F|MAP4_ENST00000441748.2_Silent_p.F177F P27816 MAP4_HUMAN microtubule-associated protein 4 1063 negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2) 32 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) CCTTCTCCTTGAAGTTCAACT 0.542000 34 79 0 0 1 0 0 WDR33 55339 broad.mit.edu 37 2 128466262 128466262 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:128466262C>T ENST00000322313.4 - 21 3928 c.3770G>A c.(3769-3771)cGa>cAa p.R1257Q NM_018383.4 NP_060853.3 Q9C0J8 WDR33_HUMAN WD repeat domain 33 1257 postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) TTTGCCTCCTCGGTCTTCAGA 0.612000 92 65 0 0 1 0 0 EHMT2 10919 broad.mit.edu 37 6 31856826 31856826 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:31856826G>A ENST00000395728.3 - 9 1306 c.1307C>T c.(1306-1308)tCa>tTa p.S436L EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Intron|EHMT2_ENST00000375537.4_Missense_Mutation_p.S379L|EHMT2_ENST00000375530.4_Intron Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 379 DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 21 ACTGGGGCCTGAGGAGCCCAC 0.622000 7 6 0 0 1 0 0 ABL2 27 broad.mit.edu 37 1 179095626 179095626 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:179095626G>A ENST00000502732.1 - 4 776 c.573C>T c.(571-573)atC>atT p.I191I ABL2_ENST00000512653.1_Silent_p.I176I|ABL2_ENST00000344730.3_Silent_p.I176I|ABL2_ENST00000392043.3_Silent_p.I170I|ABL2_ENST00000507173.1_Silent_p.I170I|ABL2_ENST00000511413.1_Silent_p.I191I|ABL2_ENST00000504405.1_Silent_p.I155I|ABL2_ENST00000408940.3_Silent_p.I155I|ABL2_ENST00000367623.4_Silent_p.I170I NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3 NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1 P42684 ABL2_HUMAN c-abl oncogene 2, non-receptor tyrosine kinase 191 SH2. axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 65 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) AGCTGCCATTGATTAGACTGC 0.527000 T ETV6 AML 21 65 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120591172 120591172 + Silent SNP G G A rs11609206 TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr12:120591172G>A ENST00000300648.6 - 33 3919 c.3907C>T c.(3907-3909)Ctg>Ttg p.L1303L NM_006836.1 NP_006827 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 1303 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GCGTTCTTCAGGAACTCCTCG 0.562000 12 23 0 0 1 0 0 KIF15 56992 broad.mit.edu 37 3 44893819 44893819 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:44893819C>T ENST00000326047.4 + 34 4241 c.4092C>T c.(4090-4092)gtC>gtT p.V1364V KIF15_ENST00000425755.1_Silent_p.V999V NM_020242.2 NP_064627.1 Q9NS87 KIF15_HUMAN kinesin family member 15 1364 blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5) 36 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) AGGAAAATGTCAGGCTTGCTG 0.333000 18 48 0 0 1 0 0 TPR 7175 broad.mit.edu 37 1 186291451 186291451 + Splice_Site SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:186291451G>A ENST00000367478.4 - 45 6756 c.6460C>T c.(6460-6462)Cat>Tat p.H2154Y NM_003292.2 NP_003283.2 P12270 TPR_HUMAN translocated promoter region, nuclear basket protein carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8) 123 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) TTAACTTACTGAATTGCTTCA 0.333000 T NTRK1 papillary thyroid 5 12 0 0 1 0 0 CNTROB 116840 broad.mit.edu 37 17 7852456 7852456 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:7852456G>A ENST00000380262.3 + 18 3558 c.2633G>A c.(2632-2634)gGt>gAt p.G878D CNTROB_ENST00000380255.3_3'UTR|CNTROB_ENST00000565740.1_Missense_Mutation_p.G857D|CNTROB_ENST00000563694.1_Missense_Mutation_p.G856D NM_001037144.5 NP_001032221.1 Q8N137 CNTRB_HUMAN centrobin, centrosomal BRCA2 interacting protein 856 Required for centrosome localization. centriole replication|centrosome separation|cytokinesis centriole protein domain specific binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9) 25 Prostate(122;0.173) TCCCGCTTGGGTGAGATCCCC 0.587000 47 26 0 0 1 0 0 DNAJB14 79982 broad.mit.edu 37 4 100844301 100844301 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr4:100844301G>A ENST00000442697.2 - 3 501 c.347C>T c.(346-348)aCg>aTg p.T116M NM_001031723.2|NM_001278310.1 NP_001026893.1|NP_001265239.1 Q8TBM8 DJB14_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 14 116 J. protein folding integral to membrane heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 5 OV - Ovarian serous cystadenocarcinoma(123;4.59e-09) AGCATCTTTCGTAACTCCAAG 0.343000 5 5 0 0 1 0 0 ROBO2 6092 broad.mit.edu 37 3 77684101 77684101 + Nonsense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:77684101C>T ENST00000461745.1 + 24 4741 c.3841C>T c.(3841-3843)Caa>Taa p.Q1281* ROBO2_ENST00000332191.8_Nonsense_Mutation_p.Q1342*|ROBO2_ENST00000487694.3_Nonsense_Mutation_p.Q1297* NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 1281 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) AGCCCTGAGTCAAAGTCAGAG 0.488000 37 77 0 0 1 0 0 GTF2F2 2963 broad.mit.edu 37 13 45827023 45827023 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr13:45827023C>G ENST00000340473.6 + 6 545 c.404C>G c.(403-405)tCt>tGt p.S135C GTF2F2_ENST00000494087.1_3'UTR NM_004128.2 NP_004119.1 P13984 T2FB_HUMAN general transcription factor IIF, polypeptide 2, 30kDa 135 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction microtubule cytoskeleton|transcription factor TFIIF complex ATP binding|ATP-dependent helicase activity|DNA binding|protein binding breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|prostate(1)|upper_aerodigestive_tract(1) 10 Lung NSC(96;0.00115)|Prostate(109;0.00578)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000647) ATAGAAGAGTCTTCCAAACCA 0.323000 16 16 0 0 1 0 0 FGD6 55785 broad.mit.edu 37 12 95602959 95602959 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr12:95602959G>C ENST00000343958.4 - 2 2324 c.2101C>G c.(2101-2103)Caa>Gaa p.Q701E FGD6_ENST00000549499.1_Missense_Mutation_p.Q701E|FGD6_ENST00000546711.1_Missense_Mutation_p.Q701E NM_018351.3 NP_060821.3 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 701 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 CTCTTCTTTTGAGATTCCAGG 0.478000 4 183 0 0 1 0 0 ICK 22858 broad.mit.edu 37 6 52876709 52876709 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:52876709C>T ENST00000356971.3 - 12 1839 c.1350G>A c.(1348-1350)gaG>gaA p.E450E ICK_ENST00000350082.5_Silent_p.E450E NM_016513.4 NP_057597.2 Q9UPZ9 ICK_HUMAN intestinal cell (MAK-like) kinase 450 intracellular protein kinase cascade|multicellular organismal development cytosol|nucleus ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1) 31 Lung NSC(77;0.103) CCAAAACACTCTCAAACCTGA 0.517000 9 89 0 0 1 0 0 TRAV8-7 28679 broad.mit.edu 37 14 22600808 22600808 + RNA SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr14:22600808C>T ENST00000390456.3 + 0 153 CTTCTCTCTTCTGGTATGTCC 0.493000 15 40 0 0 1 0 0 C16orf58 64755 broad.mit.edu 37 16 31503346 31503346 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:31503346G>A ENST00000327237.2 - 12 1332 c.1293C>T c.(1291-1293)ttC>ttT p.F431F C16orf58_ENST00000570164.1_Silent_p.F429F|C16orf58_ENST00000567994.1_Silent_p.F386F Q96GQ5 CP058_HUMAN chromosome 16 open reading frame 58 431 integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1) 14 AGAACTTTGGGAACAGCATGT 0.587000 4 30 0 0 1 0 0 EIF5 1983 broad.mit.edu 37 14 103804704 103804704 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr14:103804704G>A ENST00000216554.3 + 7 1156 c.480G>A c.(478-480)aaG>aaA p.K160K EIF5_ENST00000392715.2_Silent_p.K160K|EIF5_ENST00000558506.1_Silent_p.K160K NM_001969.4 NP_001960.2 P55010 IF5_HUMAN eukaryotic translation initiation factor 5 160 regulation of translational initiation|RNA metabolic process cytosol GTP binding|GTPase activity|translation initiation factor activity breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1) 18 Melanoma(154;0.155) Epithelial(46;0.182) aaaaagaaaagaaaaacagaa 0.393000 16 41 0 0 1 0 0 DTL 51514 broad.mit.edu 37 1 212254019 212254019 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:212254019G>C ENST00000366991.4 + 13 1502 c.1188G>C c.(1186-1188)gaG>gaC p.E396D DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Missense_Mutation_p.E354D NM_016448.2 NP_057532.2 Q9NZJ0 DTL_HUMAN denticleless E3 ubiquitin protein ligase homolog (Drosophila) 396 DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane protein binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102) GCTTAGAGGAGAAACCAGGAG 0.418000 78 74 0 0 1 0 0 DMXL1 1657 broad.mit.edu 37 5 118484889 118484889 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr5:118484889G>C ENST00000311085.8 + 18 3447 c.3367G>C c.(3367-3369)Gac>Cac p.D1123H DMXL1_ENST00000539542.1_Missense_Mutation_p.D1123H NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 1123 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) TAATAAACAAGACATGTATTT 0.353000 43 89 0 0 1 0 0 AK7 122481 broad.mit.edu 37 14 96949491 96949491 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr14:96949491G>C ENST00000267584.4 + 16 1953 c.1909G>C c.(1909-1911)Gaa>Caa p.E637Q NM_152327.3 NP_689540.2 Q96M32 KAD7_HUMAN adenylate kinase 7 637 Glu-rich. cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity p.E637K(1) breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) GGCTGCTGAGGAAGCAGAACG 0.567000 14 28 0 0 1 0 0 KCND3 3752 broad.mit.edu 37 1 112318791 112318791 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:112318791C>G ENST00000369697.1 - 6 1888 c.1819G>C c.(1819-1821)Gag>Cag p.E607Q KCND3_ENST00000315987.2_Missense_Mutation_p.E626Q|KCND3_ENST00000302127.4_Missense_Mutation_p.E607Q Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 3 626 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) CTTTCCCCCTCTGGGGTTAGC 0.557000 23 69 0 0 1 0 0 DTX2 113878 broad.mit.edu 37 7 76126698 76126698 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr7:76126698C>T ENST00000324432.5 + 7 1564 c.1054C>T c.(1054-1056)Ctt>Ttt p.L352F DTX2_ENST00000413936.2_Missense_Mutation_p.L352F|DTX2_ENST00000446600.1_Missense_Mutation_p.L261F|DTX2_ENST00000430490.2_Missense_Mutation_p.L352F|DTX2_ENST00000446820.2_Intron|DTX2_ENST00000307569.8_Intron NM_020892.2 NP_065943.2 Q86UW9 DTX2_HUMAN deltex homolog 2 (Drosophila) 352 Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2) 27 CCCTGTGTGTCTTAGCCGCGC 0.562000 16 166 0 0 1 0 0 HOMER3 9454 broad.mit.edu 37 19 19049694 19049694 + Splice_Site SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:19049694C>T ENST00000539827.1 - 2 667 c.e2-1 HOMER3_ENST00000433218.2_Splice_Site|HOMER3_ENST00000542541.2_Splice_Site|HOMER3_ENST00000355887.6_Splice_Site|HOMER3_ENST00000392351.3_Splice_Site|HOMER3_ENST00000594439.1_Splice_Site|HOMER3_ENST00000221222.11_Splice_Site|HOMER3_ENST00000594794.1_Intron Q9NSC5 HOME3_HUMAN homer homolog 3 (Drosophila) metabotropic glutamate receptor signaling pathway|protein targeting cell junction|cytoplasm|postsynaptic density|postsynaptic membrane protein binding endometrium(3)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 10 Epithelial(12;0.0107) TGGCTGCTCCCTGCGTGGGGA 0.632000 4 11 0 0 1 0 0 PGM5 5239 broad.mit.edu 37 9 70999456 70999456 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:70999456C>T ENST00000396396.1 + 3 796 c.567C>T c.(565-567)ttC>ttT p.F189F PGM5_ENST00000604870.2_3'UTR|PGM5_ENST00000396392.1_Silent_p.F189F NM_021965.3 NP_068800.2 Q15124 PGM5_HUMAN phosphoglucomutase 5 189 cell adhesion|cellular calcium ion homeostasis|glucose metabolic process costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 34 TCAAACCATTCAGAGGTAACA 0.378000 24 41 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151921149 151921149 + Nonsense_Mutation SNP G G A rs4024370 TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr7:151921149G>A ENST00000355193.2 - 20 3492 c.3274C>T c.(3274-3276)Cga>Tga p.R1092* KMT2C_ENST00000262189.6_Nonsense_Mutation_p.R1092* lysine (K)-specific methyltransferase 2C CTATAGTTTCGATAGCAGACT 0.388000 5 64 0 0 1 0 0 CDC42BPB 9578 broad.mit.edu 37 14 103434682 103434682 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr14:103434682C>G ENST00000361246.2 - 16 2542 c.2254G>C c.(2254-2256)Gag>Cag p.E752Q NM_006035.3 NP_006026.3 Q9Y5S2 MRCKB_HUMAN CDC42 binding protein kinase beta (DMPK-like) 752 actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 49 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) ACTGCCTCCTCCATCTCGTTA 0.398000 30 89 0 0 1 0 0 SLC7A10 56301 broad.mit.edu 37 19 33716513 33716513 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:33716513G>A ENST00000253188.4 - 1 243 c.97C>T c.(97-99)Cgg>Tgg p.R33W NM_019849.2 NP_062823.1 Q9NS82 AAA1_HUMAN solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration integral to plasma membrane L-serine transmembrane transporter activity central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1) 18 Esophageal squamous(110;0.137) AGCGCCACCCGCTCCGAGGCG 0.751000 8 20 0 0 1 0 0 SH3GLB2 56904 broad.mit.edu 37 9 131770969 131770969 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:131770969G>A ENST00000372564.3 - 11 1327 c.1182C>T c.(1180-1182)ctC>ctT p.L394L SH3GLB2_ENST00000416629.1_Silent_p.L373L|SH3GLB2_ENST00000417224.1_Silent_p.L399L|SH3GLB2_ENST00000372559.1_Silent_p.L394L|SH3GLB2_ENST00000372554.4_Silent_p.L403L NM_020145.2 NP_064530.1 Q9NR46 SHLB2_HUMAN SH3-domain GRB2-like endophilin B2 394 SH3. filopodium assembly|signal transduction cytoplasm|nucleus cytoskeletal adaptor activity|SH3 domain binding NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1) 12 CTGCCTAGCTGAGCAGTTCCA 0.582000 OREG0003926 type=REGULATORY REGION|Gene=SH3GLB2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 14 25 0 0 1 0 0 CCNO 10309 broad.mit.edu 37 5 54528315 54528315 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr5:54528315G>A ENST00000282572.4 - 2 597 c.441C>T c.(439-441)ttC>ttT p.F147F NM_021147.3 NP_066970.3 P22674 CCNO_HUMAN cyclin O 147 cell cycle|cell division|depyrimidination|regulation of cyclin-dependent protein kinase activity nucleoplasm protein kinase binding|uracil DNA N-glycosylase activity endometrium(1)|lung(3)|skin(1) 5 Lung NSC(810;4.08e-05)|Breast(144;0.0735)|Prostate(74;0.183) LUSC - Lung squamous cell carcinoma(15;0.142)|Lung(15;0.161) AGGAGAGGCCGAATTGGCGGT 0.667000 45 66 0 0 1 0 0 PTPN3 5774 broad.mit.edu 37 9 112219576 112219576 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:112219576G>A ENST00000374541.2 - 3 346 c.242C>T c.(241-243)tCt>tTt p.S81F PTPN3_ENST00000262539.3_5'UTR NM_001145368.1|NM_002829.3 NP_001138840.1|NP_002820.3 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 3 81 FERM. negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 ACTTACAGGAGAGTCCACGGA 0.428000 23 44 0 0 1 0 0 ABCA7 10347 broad.mit.edu 37 19 1055909 1055909 + Silent SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:1055909G>C ENST00000263094.6 + 31 4440 c.4209G>C c.(4207-4209)ctG>ctC p.L1403L ABCA7_ENST00000433129.1_Silent_p.L1403L|ABCA7_ENST00000435683.2_Silent_p.L1265L NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 1403 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) 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) CCCACAGCCTGAAGACTAAGA 0.587000 24 52 0 0 1 0 0 KLF3 51274 broad.mit.edu 37 4 38682252 38682252 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr4:38682252C>T ENST00000261438.5 + 2 311 c.6C>T c.(4-6)ctC>ctT p.L2L KLF3_ENST00000514033.1_Silent_p.L2L NM_016531.5 NP_057615.3 P57682 KLF3_HUMAN Kruppel-like factor 3 (basic) 2 Pro-rich.|Repressor domain. multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 18 AAAGAATGCTCATGTTTGACC 0.408000 60 118 0 0 1 0 0 DGKA 1606 broad.mit.edu 37 12 56334743 56334743 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr12:56334743G>C ENST00000331886.5 + 13 1534 c.1080G>C c.(1078-1080)ttG>ttC p.L360F DGKA_ENST00000551156.1_Missense_Mutation_p.L360F|DGKA_ENST00000394147.1_Missense_Mutation_p.L360F|DGKA_ENST00000549079.2_3'UTR NM_001345.4 NP_001336.2 P23743 DGKA_HUMAN diacylglycerol kinase, alpha 80kDa 360 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1) 25 Vitamin E(DB00163) ATTTAAATTTGAGCACCTCTG 0.507000 9 19 0 0 1 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43924454 43924454 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:43924454C>T ENST00000282406.4 + 7 757 c.647C>T c.(646-648)tCa>tTa p.S216L NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 216 cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) AGCAAGATATCATCGAAAGAA 0.413000 13 54 0 0 1 0 0 DOCK8 81704 broad.mit.edu 37 9 377195 377195 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:377195C>T ENST00000432829.2 + 20 2536 c.2220C>T c.(2218-2220)gtC>gtT p.V740V DOCK8_ENST00000382331.1_Silent_p.V110V|DOCK8_ENST00000453981.1_Silent_p.V808V|DOCK8_ENST00000382329.1_Silent_p.V275V|DOCK8_ENST00000469391.1_Silent_p.V740V NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 808 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) AGCCCATGGTCATCGCTGGCC 0.567000 4 17 0 0 1 0 0 RBM48 84060 broad.mit.edu 37 7 92158209 92158209 + Nonsense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr7:92158209C>T ENST00000481551.1 + 1 123 c.82C>T c.(82-84)Cga>Tga p.R28* RBM48_ENST00000265732.5_Nonsense_Mutation_p.R28* Q5RL73 CG064_HUMAN RNA binding motif protein 48 28 nucleotide binding GGCCAAATATCGAGAGGGACG 0.542000 7 38 0 0 1 0 0 S100PBP 64766 broad.mit.edu 37 1 33291961 33291961 + Silent SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:33291961G>C ENST00000373475.5 + 3 515 c.261G>C c.(259-261)ggG>ggC p.G87G S100PBP_ENST00000398243.3_Silent_p.G87G|S100PBP_ENST00000373476.1_Silent_p.G87G|S100PBP_ENST00000356689.3_3'UTR NM_022753.3 NP_073590.2 Q96BU1 S1PBP_HUMAN S100P binding protein 87 nucleus calcium-dependent protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) GAGAAAGAGGGAGTCAAATTC 0.468000 34 28 0 0 1 0 0 JUNB 3726 broad.mit.edu 37 19 12902735 12902735 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:12902735C>T ENST00000302754.4 + 1 426 c.150C>T c.(148-150)ctC>ctT p.L50L NM_002229.2 NP_002220.1 P17275 JUNB_HUMAN jun B proto-oncogene 50 chromatin|nucleus protein dimerization activity|transcription coactivator activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|kidney(1)|lung(3) 6 ACCGGAGTCTCAAAGCGCCTG 0.677000 7 19 0 0 1 0 0 UBXN2A 165324 broad.mit.edu 37 2 24205879 24205879 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:24205879C>T ENST00000309033.4 + 5 645 c.401C>T c.(400-402)tCa>tTa p.S134L UBXN2A_ENST00000535786.1_Missense_Mutation_p.S134L|UBXN2A_ENST00000446425.2_3'UTR|UBXN2A_ENST00000404924.1_Missense_Mutation_p.S134L NM_181713.3 NP_859064.2 P68543 UBX2A_HUMAN UBX domain protein 2A 134 endometrium(1)|large_intestine(3)|liver(1)|lung(6) 11 CAGCCCTTTTCAGGACAGGGT 0.368000 31 36 0 0 1 0 0 NUP50 10762 broad.mit.edu 37 22 45574610 45574610 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr22:45574610G>A ENST00000347635.4 + 5 1298 c.832G>A c.(832-834)Gat>Aat p.D278N NUP50_ENST00000425733.2_Missense_Mutation_p.D28N|NUP50_ENST00000396096.2_Missense_Mutation_p.D250N|NUP50_ENST00000407019.2_Missense_Mutation_p.D250N NM_007172.3 NP_009103.2 Q9UKX7 NUP50_HUMAN nucleoporin 50kDa 5 X 2 AA repeats of F-G.|Ser-rich. carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore|nucleoplasm protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 9 Ovarian(80;0.00965)|all_neural(38;0.0244) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) CAAGAAAGTTGATAGCTCTGT 0.443000 13 21 0 0 1 0 0 EIF5 1983 broad.mit.edu 37 14 103803037 103803037 + Nonsense_Mutation SNP G G T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr14:103803037G>T ENST00000216554.3 + 5 854 c.178G>T c.(178-180)Gag>Tag p.E60* EIF5_ENST00000392715.2_Nonsense_Mutation_p.E60*|EIF5_ENST00000560200.1_3'UTR|EIF5_ENST00000558506.1_Nonsense_Mutation_p.E60* NM_001969.4 NP_001960.2 P55010 IF5_HUMAN eukaryotic translation initiation factor 5 60 E -> G (in Ref. 2; CAB45711). regulation of translational initiation|RNA metabolic process cytosol GTP binding|GTPase activity|translation initiation factor activity breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1) 18 Melanoma(154;0.155) Epithelial(46;0.182) TTTTGGTTGTGAGCTGGGAGC 0.408000 21 42 2.39556e-15 2.47889e-15 1 1 0 IRF9 10379 broad.mit.edu 37 14 24624860 24624860 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr14:24624860C>T ENST00000558468.1 + 6 877 c.877C>T c.(877-879)Ccc>Tcc p.P293S RNF31_ENST00000324103.6_Missense_Mutation_p.P818S|RNF31_ENST00000382687.3_Missense_Mutation_p.P667S|RNF31_ENST00000559275.1_Missense_Mutation_p.P667S GGCAACTTGTCCCCAGTGTCA 0.517000 20 115 0 0 1 0 0 METTL3 56339 broad.mit.edu 37 14 21971663 21971663 + Nonsense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr14:21971663G>A ENST00000298717.4 - 3 527 c.376C>T c.(376-378)Cag>Tag p.Q126* METTL3_ENST00000538267.1_Nonsense_Mutation_p.Q126* NM_019852.3 NP_062826.2 Q86U44 MTA70_HUMAN methyltransferase like 3 126 gene expression nuclear speck mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(95;0.000628) Epithelial(56;6.61e-06) GBM - Glioblastoma multiforme(265;0.0146) ATCAACTCCTGAGCTGCAAAC 0.512000 31 54 0 0 1 0 0 FEM1B 10116 broad.mit.edu 37 15 68582015 68582015 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr15:68582015C>G ENST00000306917.4 + 2 934 c.319C>G c.(319-321)Cta>Gta p.L107V NM_015322.4 NP_056137.1 Q9UK73 FEM1B_HUMAN fem-1 homolog b (C. elegans) 107 apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity cytoplasm|nucleus death receptor binding|ubiquitin-protein ligase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 9 TGTTAAACTTCTAGTCAGCCA 0.448000 7 28 0 0 1 0 0 TMTC3 160418 broad.mit.edu 37 12 88584332 88584332 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr12:88584332G>C ENST00000266712.6 + 12 1859 c.1639G>C c.(1639-1641)Gaa>Caa p.E547Q NM_181783.3 NP_861448.2 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat containing 3 547 integral to membrane binding NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1) 31 CCGACTGGAAGAAGCAGATCA 0.438000 27 54 0 0 1 0 0 ZNF180 7733 broad.mit.edu 37 19 44981097 44981097 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:44981097G>A ENST00000221327.4 - 5 1882 c.1601C>T c.(1600-1602)tCt>tTt p.S534F ZNF180_ENST00000391956.4_Missense_Mutation_p.S509F|ZNF180_ENST00000592529.1_Missense_Mutation_p.S507F NM_013256.3 NP_037388.2 Q9UJW8 ZN180_HUMAN zinc finger protein 180 534 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1) 33 Prostate(69;0.0435) AACAAGCTGAGAGCTCCAGCT 0.403000 22 50 0 0 1 0 0 NUP153 9972 broad.mit.edu 37 6 17628990 17628990 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:17628990G>A ENST00000262077.2 - 18 3439 c.3440C>T c.(3439-3441)tCa>tTa p.S1147L NUP153_ENST00000537253.1_Missense_Mutation_p.S1178L NM_005124.2 NP_005115.2 P49790 NU153_HUMAN nucleoporin 153kDa 1147 carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm DNA binding|protein binding|transporter activity|zinc ion binding NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2) 53 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.125) all cancers(50;0.0981)|Epithelial(50;0.112) TGTGGACTTTGAAGAATTCTC 0.398000 16 42 0 0 1 0 0 NINL 22981 broad.mit.edu 37 20 25472115 25472115 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr20:25472115C>T ENST00000278886.6 - 11 1430 c.1357G>A c.(1357-1359)Gag>Aag p.E453K NINL_ENST00000422516.1_Missense_Mutation_p.E453K NM_025176.4 NP_079452.3 Q9Y2I6 NINL_HUMAN ninein-like 453 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 GCCTCCACCTCAGACCGCAGG 0.657000 5 139 0 0 1 0 0 KIF5C 3800 broad.mit.edu 37 2 149803478 149803478 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:149803478G>C ENST00000435030.1 + 8 1023 c.655G>C c.(655-657)Gag>Cag p.E219Q KIF5C_ENST00000414838.2_Missense_Mutation_p.E124Q O60282 KIF5C_HUMAN kinesin family member 5C 219 Kinesin-motor.|Microtubule-binding. microtubule-based movement|organelle organization cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(221;0.108) AGAGAATGTAGAGACTGAAAA 0.323000 9 6 0 0 1 0 0 DOCK1 1793 broad.mit.edu 37 10 128796359 128796359 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr10:128796359C>G ENST00000280333.6 + 8 722 c.613C>G c.(613-615)Caa>Gaa p.Q205E NM_001380.3 NP_001371.1 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 205 apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 72 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) TACACAGTCTCAAAAGCAGAA 0.388000 13 11 0 0 1 0 0 SCARF2 91179 broad.mit.edu 37 22 20783871 20783871 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr22:20783871G>A ENST00000405555.3 - 8 1446 c.1376C>T c.(1375-1377)tCg>tTg p.S459L SCARF2_ENST00000266214.5_Missense_Mutation_p.S459L NM_182895.2 NP_878315.1 Q96GP6 SREC2_HUMAN scavenger receptor class F, member 2 459 cell adhesion integral to membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2) 10 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) GCCGAGCAGCGAGAGCAGCAG 0.687000 18 52 0 0 1 0 0 VAMP1 6843 broad.mit.edu 37 12 6575146 6575146 + Silent SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr12:6575146C>G ENST00000361716.3 - 3 605 c.150G>C c.(148-150)gtG>gtC p.V50V VAMP1_ENST00000544432.1_5'UTR|VAMP1_ENST00000400911.3_Silent_p.V50V|VAMP1_ENST00000396308.3_Silent_p.V50V|TAPBPL_ENST00000545700.1_3'UTR|VAMP1_ENST00000535180.1_Silent_p.V50V P23763 VAMP1_HUMAN vesicle-associated membrane protein 1 (synaptobrevin 1) 50 v-SNARE coiled-coil homology. neurotransmitter secretion|vesicle-mediated transport cell junction|endocytic vesicle membrane|integral to plasma membrane|mitochondrial outer membrane|synaptic vesicle membrane|synaptosome protein binding endometrium(1)|large_intestine(1)|prostate(1) 3 Botulinum Toxin Type B(DB00042) TGTCCACGTTCACACGTATGA 0.532000 OREG0021627 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 49 0 0 1 0 0 USP9X 8239 broad.mit.edu 37 X 41025165 41025165 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chrX:41025165C>G ENST00000324545.8 + 16 2659 c.2026C>G c.(2026-2028)Cag>Gag p.Q676E USP9X_ENST00000378308.2_Missense_Mutation_p.Q676E NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 ATGTGCTCCTCAGGCAAAACA 0.373000 22 15 0 0 1 0 0 RAD51AP2 729475 broad.mit.edu 37 2 17697673 17697673 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:17697673G>A ENST00000399080.2 - 1 2033 c.2010C>T c.(2008-2010)ttC>ttT p.F670F NM_001099218.2 NP_001092688.1 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 670 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TTGTCATACTGAAGGAATTAA 0.269000 3 29 0 0 1 0 0 ELP2 55250 broad.mit.edu 37 18 33744582 33744582 + Nonsense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr18:33744582C>T ENST00000358232.6 + 18 1969 c.1906C>T c.(1906-1908)Cga>Tga p.R636* ELP2_ENST00000351393.6_Nonsense_Mutation_p.R610*|ELP2_ENST00000542050.1_3'UTR|ELP2_ENST00000442325.2_Nonsense_Mutation_p.R701*|ELP2_ENST00000350494.6_Nonsense_Mutation_p.R631*|ELP2_ENST00000542824.1_Nonsense_Mutation_p.R566*|ELP2_ENST00000423854.2_Nonsense_Mutation_p.R566* NM_018255.2 NP_060725.1 Q6IA86 ELP2_HUMAN elongator acetyltransferase complex subunit 2 636 regulation of transcription from RNA polymerase II promoter Golgi apparatus|transcription elongation factor complex NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2) 30 TTCCAGAGATCGAACCTGGTC 0.403000 22 40 0 0 1 0 0 FAM149A 25854 broad.mit.edu 37 4 187084747 187084747 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr4:187084747C>T ENST00000356371.5 + 10 1876 c.1876C>T c.(1876-1878)Ccc>Tcc p.P626S FAM149A_ENST00000514153.1_Missense_Mutation_p.P335S|FAM149A_ENST00000389354.5_Missense_Mutation_p.P335S|FAM149A_ENST00000503432.1_Missense_Mutation_p.P335S|FAM149A_ENST00000502970.1_Missense_Mutation_p.P335S|FAM149A_ENST00000227065.4_Missense_Mutation_p.P335S A5PLN7 F149A_HUMAN family with sequence similarity 149, member A 626 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2) 25 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166) ACTAAAAACTCCCAACATCTA 0.458000 9 23 0 0 1 0 0 HIVEP2 3097 broad.mit.edu 37 6 143091105 143091105 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:143091105C>T ENST00000367603.2 - 5 5513 c.4771G>A c.(4771-4773)Gat>Aat p.D1591N HIVEP2_ENST00000367604.1_Missense_Mutation_p.D1591N|HIVEP2_ENST00000012134.2_Missense_Mutation_p.D1591N NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 1591 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) AGCTGACCATCTCCTGCTGGT 0.547000 46 104 0 0 1 0 0 MRPS18A 55168 broad.mit.edu 37 6 43655472 43655472 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:43655472G>A ENST00000372133.3 - 1 56 c.45C>T c.(43-45)ctC>ctT p.L15L MRPS18A_ENST00000372116.1_Silent_p.L15L NM_018135.3 NP_060605.1 Q9NVS2 RT18A_HUMAN mitochondrial ribosomal protein S18A 15 translation mitochondrial small ribosomal subunit structural constituent of ribosome kidney(3)|large_intestine(1) 4 all_cancers(18;6.56e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004) all cancers(41;0.000479)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0102)|OV - Ovarian serous cystadenocarcinoma(102;0.137) GTAGCCCACGGAGAAGCCGCC 0.632000 3 14 0 0 1 0 0 FUT2 2524 broad.mit.edu 37 19 49207033 49207033 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:49207033G>C ENST00000425340.2 + 2 937 c.820G>C c.(820-822)Gat>Cat p.D274H FUT2_ENST00000391876.4_Missense_Mutation_p.D274H NM_000511.5|NM_001097638.2 NP_000502.4|NP_001091107.1 Q10981 FUT2_HUMAN fucosyltransferase 2 (secretor status included) 274 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane galactoside 2-alpha-L-fucosyltransferase activity breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2) 7 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017) ACCTGCCAAAGATTTTGCTCT 0.562000 66 161 0 0 1 0 0 SLC44A2 57153 broad.mit.edu 37 19 10742160 10742160 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:10742160G>A ENST00000586078.1 + 7 560 c.451G>A c.(451-453)Gag>Aag p.E151K SLC44A2_ENST00000335757.5_Missense_Mutation_p.E151K|SLC44A2_ENST00000407327.4_Missense_Mutation_p.E149K NM_020428.3 NP_065161.3 Q8IWA5 CTL2_HUMAN solute carrier family 44 (choline transporter), member 2 151 positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane|plasma membrane choline transmembrane transporter activity|signal transducer activity NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Epithelial(33;8.7e-06)|all cancers(31;2.77e-05) Choline(DB00122) GGGAGTGGCTGAGGTGCTTCA 0.587000 27 58 0 0 1 0 0 SOAT1 6646 broad.mit.edu 37 1 179304703 179304703 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr1:179304703C>T ENST00000367619.3 + 4 383 c.240C>T c.(238-240)ctC>ctT p.L80L SOAT1_ENST00000539888.1_Silent_p.L15L|SOAT1_ENST00000535686.1_5'UTR|SOAT1_ENST00000540564.1_Silent_p.L22L NM_003101.5 NP_003092.4 P35610 SOAT1_HUMAN sterol O-acyltransferase 1 80 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1) 20 Ezetimibe(DB00973)|Hesperetin(DB01094) TGACCAATCTCATTGAAAAGT 0.363000 17 20 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47852111 47852111 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr21:47852111G>C ENST00000359568.5 + 38 8840 c.8733G>C c.(8731-8733)caG>caC p.Q2911H PCNT_ENST00000480896.1_Intron NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 2911 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) GGAAGTGGCAGAGAGACAAGG 0.617000 9 12 0 0 1 0 0 TRIM23 373 broad.mit.edu 37 5 64892900 64892900 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr5:64892900G>A ENST00000231524.9 - 8 1658 c.1287C>T c.(1285-1287)ttC>ttT p.F429F TRIM23_ENST00000274327.7_Silent_p.F429F|TRIM23_ENST00000381018.3_Silent_p.F429F NM_001656.3 NP_001647.1 P36406 TRI23_HUMAN tripartite motif containing 23 429 ARF-like. interspecies interaction between organisms|small GTPase mediated signal transduction Golgi membrane|lysosomal membrane enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 28 Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234) Lung(70;0.00473) TGGGCTGCATGAATTCATCCT 0.373000 24 77 0 0 1 0 0 RREB1 6239 broad.mit.edu 37 6 7230393 7230393 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:7230393C>T ENST00000379938.2 + 10 2598 c.2061C>T c.(2059-2061)atC>atT p.I687I RREB1_ENST00000334984.6_Silent_p.I687I|RREB1_ENST00000349384.6_Silent_p.I687I|RREB1_ENST00000379933.3_Silent_p.I687I NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 687 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) CCGCGCTCATCCGCCACCTGC 0.637000 22 39 0 0 1 0 0 SPAG5 10615 broad.mit.edu 37 17 26919162 26919162 + Missense_Mutation SNP G G A rs140105765 TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:26919162G>A ENST00000321765.5 - 3 1432 c.1100C>T c.(1099-1101)tCg>tTg p.S367L NM_006461.3 NP_006452.3 Q96R06 SPAG5_HUMAN sperm associated antigen 5 367 cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytoplasm|spindle pole protein binding p.S367L(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 43 Lung NSC(42;0.00431) CCGAAGCATCGAGGGAAGGGA 0.502000 39 125 0 0 1 0 0 VIM 7431 broad.mit.edu 37 10 17277884 17277884 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr10:17277884G>A ENST00000544301.1 + 8 1682 c.1269G>A c.(1267-1269)ctG>ctA p.L423L VIM_ENST00000224237.5_Silent_p.L423L NM_003380.3 NP_003371.2 P08670 VIME_HUMAN vimentin 423 Tail. cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding cytosol|intermediate filament protein C-terminus binding|structural constituent of cytoskeleton NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 CCCTGAACCTGAGGGGTAAGC 0.363000 17 28 0 0 1 0 0 ID1 3397 broad.mit.edu 37 20 30193467 30193467 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr20:30193467G>A ENST00000376105.3 + 1 376 c.277G>A c.(277-279)Gag>Aag p.E93K ID1_ENST00000376112.3_Missense_Mutation_p.E93K NM_181353.2 NP_851998.1 P41134 ID1_HUMAN inhibitor of DNA binding 1, dominant negative helix-loop-helix protein 93 Helix-loop-helix motif. angiogenesis|blood vessel endothelial cell migration|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by transcription factor localization|transforming growth factor beta receptor signaling pathway cytoplasm protein binding endometrium(2)|ovary(1)|pancreas(1) 4 all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198) Epithelial(4;1.99e-05)|all cancers(5;0.000169)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264) GAGCAAGGTGGAGATTCTCCA 0.607000 10 11 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179450037 179450037 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:179450037G>C ENST00000589042.1 - 309 64658 c.64434C>G c.(64432-64434)atC>atG p.I21478M TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I12413M|TTN_ENST00000359218.5_Missense_Mutation_p.I12538M|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I12605M|TTN_ENST00000591111.1_Missense_Mutation_p.I19837M|TTN_ENST00000342992.6_Missense_Mutation_p.I18910M NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 19837 Fibronectin type-III 55. 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) TCCCAGCTTTGATAGTTATTT 0.408000 66 39 0 0 1 0 0 DTWD1 56986 broad.mit.edu 37 15 49926895 49926895 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr15:49926895G>A ENST00000251250.6 + 5 778 c.571G>A c.(571-573)Gac>Aac p.D191N DTWD1_ENST00000415425.1_Missense_Mutation_p.D104N|DTWD1_ENST00000558653.1_Missense_Mutation_p.D191N|DTWD1_ENST00000559223.1_3'UTR|DTWD1_ENST00000403028.3_Missense_Mutation_p.D191N NM_020234.5 NP_064619.2 Q8N5C7 DTWD1_HUMAN DTW domain containing 1 191 p.D191N(1) endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 9 all_lung(180;0.0384) all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05) TGATTTGAATGACAGCAAGTG 0.343000 30 162 0 0 1 0 0 LOC101928517 101928517 broad.mit.edu 37 19 51671614 51671614 + RNA SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr19:51671614C>G ENST00000600074.1 - 0 493 SIGLEC17P_ENST00000598286.1_RNA CCATCCAGCTCAGTGTCTCCT 0.622000 15 30 0 0 1 0 0 TIPARP 25976 broad.mit.edu 37 3 156396116 156396116 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:156396116C>T ENST00000461166.1 + 2 1218 c.630C>T c.(628-630)ctC>ctT p.L210L TIPARP_ENST00000542783.1_Silent_p.L210L|TIPARP_ENST00000295924.7_Silent_p.L210L|TIPARP_ENST00000486483.1_Silent_p.L210L NM_001184717.1 NP_001171646.1 Q7Z3E1 PARPT_HUMAN TCDD-inducible poly(ADP-ribose) polymerase 210 NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 23 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) GTACTGAGCTCTTTCAGGACA 0.423000 27 39 0 0 1 0 0 CITED2 10370 broad.mit.edu 37 6 139694644 139694644 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr6:139694644C>T ENST00000367651.2 - 2 653 c.438G>A c.(436-438)atG>atA p.M146I CITED2_ENST00000537332.1_Missense_Mutation_p.M146I|CITED2_ENST00000536159.1_Missense_Mutation_p.M146I NM_006079.4 NP_006070.2 Q99967 CITE2_HUMAN Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 146 adrenal cortex formation|anti-apoptosis|cell proliferation|determination of left/right symmetry|heart development|liver development|negative regulation of cell migration|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell cycle|positive regulation of cell-cell adhesion|positive regulation of male gonad development|positive regulation of peroxisome proliferator activated receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of organ formation|response to estrogen stimulus|response to fluid shear stress|response to hypoxia|sex determination cytoplasm|nuclear chromatin|nucleus chromatin binding|LBD domain binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity large_intestine(1)|lung(4) 5 Breast(32;0.226) GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134) TTGTCCCGTTCATCTGGTGGC 0.632000 64 91 0 0 1 0 0 RAD23B 5887 broad.mit.edu 37 9 110091908 110091908 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:110091908C>T ENST00000358015.3 + 10 1552 c.1201C>T c.(1201-1203)Ctt>Ttt p.L401F RAD23B_ENST00000416373.2_Missense_Mutation_p.L329F NM_001244713.1|NM_002874.4 NP_001231642.1|NP_002865.1 P54727 RD23B_HUMAN RAD23 homolog B (S. cerevisiae) 401 UBA 2. nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process cytoplasm|nucleoplasm|proteasome complex|XPC complex damaged DNA binding|polyubiquitin binding|single-stranded DNA binding breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 TGCCAATTTTCTTCTACAGCA 0.378000 Direct reversal of damage;Nucleotide excision repair (NER) 26 46 0 0 1 0 0 GPATCH8 23131 broad.mit.edu 37 17 42476606 42476606 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr17:42476606G>A ENST00000434000.1 - 9 2887 c.2605C>T c.(2605-2607)Cgg>Tgg p.R869W GPATCH8_ENST00000591680.1_Missense_Mutation_p.R947W Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 947 Ser-rich. intracellular nucleic acid binding|zinc ion binding breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) GTATGACTCCGAGATCGGCTT 0.552000 27 62 0 0 1 0 0 NTHL1 4913 broad.mit.edu 37 16 2090190 2090190 + Missense_Mutation SNP C C A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:2090190C>A ENST00000219066.1 - 5 777 c.759G>T c.(757-759)aaG>aaT p.K253N NTHL1_ENST00000562951.1_5'UTR NM_002528.5 NP_002519.1 P78549 NTHL1_HUMAN nth endonuclease III-like 1 (E. coli) 253 depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion nucleoplasm 4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding lung(1) 1 TGGTTGCCTTCTTGGTCCACC 0.637000 Base excision repair (BER), DNA glycosylases 73 101 7.63117e-38 7.98338e-38 1 1 0 ALG2 85365 broad.mit.edu 37 9 101980999 101980999 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:101980999C>T ENST00000476832.1 - 2 529 c.468G>A c.(466-468)agG>agA p.R156R ALG2_ENST00000319033.6_Silent_p.R63R NM_033087.3 NP_149078.1 Q9H553 ALG2_HUMAN ALG2, alpha-1,3/1,6-mannosyltransferase 156 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2) 22 Acute lymphoblastic leukemia(62;0.0559) CAATTGGGGCCCTGTATAGTC 0.453000 12 75 0 0 1 0 0 TMEM2 23670 broad.mit.edu 37 9 74345053 74345053 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:74345053G>A ENST00000377044.4 - 9 2429 c.1890C>T c.(1888-1890)ctC>ctT p.L630L TMEM2_ENST00000377066.5_Silent_p.L567L NM_001135820.1|NM_013390.2 NP_001129292.1|NP_037522.1 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 630 integral to membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2) 56 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) CGGTGGGCAGGAGAGTACCCG 0.448000 29 69 0 0 1 0 0 H3F3AP4 440926 broad.mit.edu 37 2 175585079 175585079 + RNA DEL A A - TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr2:175585079delA ENST00000442996.1 + 0 217 TTTCATTCTCAAAAAAAAAAA 0.368 OREG0015078 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 6 --- --- --- --- CACNA1D 776 broad.mit.edu 37 3 53778808 53778808 + Frame_Shift_Del DEL G G - TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:53778808delG ENST00000288139.4 + 24 3138 c.3020delG c.(3019-3021)aggfs p.R1007fs CACNA1D_ENST00000422281.2_Frame_Shift_Del_p.R987fs|CACNA1D_ENST00000350061.5_Frame_Shift_Del_p.R987fs NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) AGGGTCTTAAGGGTCCTGCGT 0.532 13 106 --- --- --- --- XRN1 54464 broad.mit.edu 37 3 142048294 142048294 + Frame_Shift_Del DEL G G - TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr3:142048294delG ENST00000264951.4 - 37 4500 c.4383delC c.(4381-4383)tccfs p.S1461fs XRN1_ENST00000392981.2_Frame_Shift_Del_p.S1462fs NM_019001.3 NP_061874.3 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 1461 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 61 TCCTAAGAAAGGAGAAATCAG 0.373 15 43 --- --- --- --- TRBV7-6 28592 broad.mit.edu 37 7 142139683 142139684 + RNA INS - - A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr7:142139683_142139684insA ENST00000390374.3 - 0 94 cctacacacaGAAAAAAAAATG 0.490 7 89 --- --- --- --- SFRP1 6422 broad.mit.edu 37 8 41166638 41166640 + In_Frame_Del DEL GCT GCT - rs3055861 TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr8:41166638_41166640delGCT ENST00000220772.3 - 1 376_378 c.39_41delAGC c.(37-42)gcagcc>gcc p.13_14AA>A NM_003012.4 NP_003003.3 Q8N474 SFRP1_HUMAN secreted frizzled-related protein 1 13 brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1) 7 Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211) all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559) BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174) CACGCCCAGGGCTGCCCCGCGGC 0.764 7 2 --- --- --- --- CDKN2A 1029 broad.mit.edu 37 9 21974697 21974704 + Frame_Shift_Del DEL AACTATTC AACTATTC - TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr9:21974697_21974704delAACTATTC ENST00000304494.5 - 1 393_400 c.123_130delGAATAGTT c.(121-132)ccgaatagttacfs p.NSY42fs CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.NSY42fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.NSY42fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.NSY42fs|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000530628.2_Intron NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 42 cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(23)|p.S43I(6)|p.N42Y(1)|p.S43fs*76(1)|p.0(1)|p.V28_V51del(1)|p.N42T(1)|p.S43R(1)|p.Y44fs*76(1)|p.N42D(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CTCCGACCGTAACTATTCGGTGCGTTGG 0.688 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 55 143 --- --- --- --- DRGX 644168 broad.mit.edu 37 10 50574313 50574313 + Frame_Shift_Del DEL G G - TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr10:50574313delG ENST00000374139.2 - 6 650 c.640delC c.(640-642)cgcfs p.R214fs DRGX_ENST00000434016.1_Frame_Shift_Del_p.R219fs C9JW76 C9JW76_HUMAN dorsal root ganglia homeobox 219 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5) 11 GAGTGCTCGCGGGCCTTCATG 0.672 26 113 --- --- --- --- PPFIBP2 8495 broad.mit.edu 37 11 7669770 7669771 + Splice_Site INS - - AAGGGC TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:7669770_7669771insAAGGGC ENST00000299492.4 + 18 2185 c.e18+2 PPFIBP2_ENST00000533792.1_Splice_Site|PPFIBP2_ENST00000528883.1_Splice_Site|PPFIBP2_ENST00000530181.1_Splice_Site|PPFIBP2_ENST00000530582.1_Splice_Site NM_003621.3 NP_003612 Q8ND30 LIPB2_HUMAN PTPRF interacting protein, binding protein 2 (liprin beta 2) cell communication|DNA integration intracellular DNA binding|integrase activity|protein binding breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236) ATGGAAAAGGTAAGGGCTCAGC 0.569 20 108 --- --- --- --- MALAT1 378938 broad.mit.edu 37 11 65270964 65270974 + RNA DEL TGAAGGCTCTA TGAAGGCTCTA - TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr11:65270964_65270974delTGAAGGCTCTA ENST00000534336.1 + 0 5732_5742 NR_002819.2 ATTGAATCTCTGAAGGCTCTATGAAAGGAAT 0.327 28 71 --- --- --- --- NECAP1 25977 broad.mit.edu 37 12 8245310 8245314 + Frame_Shift_Del DEL AAGAA AAGAA - TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr12:8245310_8245314delAAGAA ENST00000339754.5 + 5 500_504 c.422_426delAAGAA c.(421-426)caagaafs p.QE141fs NM_015509.3 NP_056324.2 Q8NC96 NECP1_HUMAN NECAP endocytosis associated 1 141 endocytosis|protein transport clathrin coated vesicle membrane|plasma membrane cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Kidney(36;0.0915) AAGGAATCTCAAGAAATGGATGCTC 0.405 7 36 --- --- --- --- MAGOHB 55110 broad.mit.edu 37 12 10762497 10762517 + In_Frame_Del DEL ATAATTCTCTTCAGTTCTTCC ATAATTCTCTTCAGTTCTTCC - TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr12:10762497_10762517delATAATTCTCTTCAGTTCTTCC ENST00000320756.2 - 3 267_287 c.177_197delGGAAGAACTGAAGAGAATTAT c.(175-198)atggaagaactgaagagaattatt>att p.MEELKRI59del MAGOHB_ENST00000381881.2_Intron|MAGOHB_ENST00000539554.1_In_Frame_Del_p.MEELKRI13del NM_018048.3 NP_060518.1 Q96A72 MGN2_HUMAN mago-nashi homolog B (Drosophila) 59 mRNA processing|mRNA transport|RNA splicing nucleus RNA binding breast(2)|large_intestine(2) 4 ACTGTCATCAATAATTCTCTTCAGTTCTTCCATTACACTCT 0.362 12 33 --- --- --- --- DOCK9 23348 broad.mit.edu 37 13 99502312 99502312 + Frame_Shift_Del DEL A A - TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr13:99502312delA ENST00000376460.1 - 36 4082 c.4002delT c.(4000-4002)tttfs p.F1334fs DOCK9_ENST00000448493.2_Frame_Shift_Del_p.F1346fs|DOCK9_ENST00000339416.2_Frame_Shift_Del_p.F1335fs NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 1335 blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CAGATATTGTAAAAAAATCCA 0.318 2 4 --- --- --- --- LCMT1 51451 broad.mit.edu 37 16 25143746 25143746 + Frame_Shift_Del DEL G G - TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:25143746delG ENST00000399069.3 + 3 384 c.229delG c.(229-231)gtcfs p.V77fs LCMT1_ENST00000380966.4_Frame_Shift_Del_p.V77fs NM_016309.2 NP_057393.2 Q9UIC8 LCMT1_HUMAN leucine carboxyl methyltransferase 1 77 protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity GBM - Glioblastoma multiforme(48;0.0336) L-Leucine(DB00149) AGTCCATGGTGTCAGTCAGCT 0.483 18 44 --- --- --- --- BCAR1 9564 broad.mit.edu 37 16 75269588 75269597 + Frame_Shift_Del DEL GCCACCATCA GCCACCATCA - TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr16:75269588_75269597delGCCACCATCA ENST00000546196.1 - 5 2765_2774 c.1113_1122delTGATGGTGGC c.(1111-1122)gctgatggtggcfs p.ADGG371fs BCAR1_ENST00000420641.3_Frame_Shift_Del_p.ADGG418fs|BCAR1_ENST00000162330.5_Frame_Shift_Del_p.ADGG400fs|BCAR1_ENST00000393422.2_Frame_Shift_Del_p.ADGG418fs|BCAR1_ENST00000535626.2_Frame_Shift_Del_p.ADGG252fs|BCAR1_ENST00000542031.2_Frame_Shift_Del_p.ADGG398fs|BCAR1_ENST00000538440.2_Frame_Shift_Del_p.ADGG400fs|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000418647.3_Frame_Shift_Del_p.ADGG446fs|BCAR1_ENST00000393420.6_Frame_Shift_Del_p.ADGG418fs P56945 BCAR1_HUMAN breast cancer anti-estrogen resistance 1 400 Substrate for kinases (By similarity). actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway cytosol|focal adhesion|membrane fraction|ruffle protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2) 35 BRCA - Breast invasive adenocarcinoma(221;0.169) TGTCGACCACGCCACCATCAGCCACCTCAG 0.690 11 32 --- --- --- --- LOC101927202 101927202 broad.mit.edu 37 22 39487644 39487644 + RNA DEL C C - TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chr22:39487644delC ENST00000424436.1 + 0 6 TATCCCGGAGCCCCAGCCCGG 0.562 2 4 --- --- --- --- MAGEB4 4115 broad.mit.edu 37 X 30260481 30260491 + Frame_Shift_Del DEL TGCACTGGATC TGCACTGGATC - rs147091800 TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chrX:30260481_30260491delTGCACTGGATC ENST00000378982.2 + 1 425_435 c.229_239delTGCACTGGATC c.(229-240)tgcactggatctfs p.CTGS77fs NM_002367.3 NP_002358.1 O15481 MAGB4_HUMAN melanoma antigen family B, 4 77 breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 AGCTATGTCATGCACTGGATCTGATAAAGGC 0.521 7 8 --- --- --- --- PASD1 139135 broad.mit.edu 37 X 150817142 150817144 + In_Frame_Del DEL GCT GCT - TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e119357-c81b-4d46-816a-28e51377424f 5cff717e-c684-42eb-a812-f1471a7e42d1 g.chrX:150817142_150817144delGCT ENST00000370357.4 + 9 930_932 c.685_687delGCT c.(685-687)gctdel p.A236del NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 236 Poly-Ala. nucleus signal transducer activity p.A229A(2) breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) CGTTGAACCCgctgctgctgctg 0.433 7 84 --- --- --- ---