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 SH3TC1 54436 broad.mit.edu 37 4 8217959 8217959 + Silent SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr4:8217959C>T ENST00000539824.1 + 6 749 c.375C>T c.(373-375)acC>acT p.T125T SH3TC1_ENST00000245105.3_Silent_p.T201T Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 201 binding NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 TAAGGCTGACCCACGAGAGCC 0.612000 18 20 0 0 0.004990 0 0 WRN 7486 broad.mit.edu 37 8 31024688 31024688 + Missense_Mutation SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr8:31024688C>T ENST00000298139.5 + 34 4382 c.4133C>T c.(4132-4134)tCt>tTt p.S1378F RP11-363L24.3_ENST00000521252.1_RNA NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 1378 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) TTTCCCGGTTCTGAAGAGATC 0.378000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 15 32 0 0 0.024245 0 0 TRIM67 440730 broad.mit.edu 37 1 231339639 231339639 + Missense_Mutation SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr1:231339639G>A ENST00000444294.3 + 6 2413 c.1555G>A c.(1555-1557)Gag>Aag p.E519K TRIM67_ENST00000366652.2_Missense_Mutation_p.E521K|TRIM67_ENST00000366653.5_Missense_Mutation_p.E521K|TRIM67_ENST00000449018.3_Missense_Mutation_p.E459K NM_001004342.3 NP_001004342.3 Q6ZTA4 TRI67_HUMAN tripartite motif containing 67 521 Fibronectin type-III. cytoplasm|cytoskeleton zinc ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(184;0.0871) all_cancers(173;0.189)|Prostate(94;0.167) ACTGCAGCTGGAGAAATGCTG 0.672000 10 16 0 0 0.013537 0 0 PLEKHG2 64857 broad.mit.edu 37 19 39914442 39914442 + Missense_Mutation SNP C C T rs34762911 byFrequency TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr19:39914442C>T ENST00000425673.1 + 17 2907 c.2582C>T c.(2581-2583)tCt>tTt p.S861F PLEKHG2_ENST00000458508.2_Missense_Mutation_p.S831F|PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.S890F Q9H7P9 PKHG2_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 2 890 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 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;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) GCCCAGGAGTCTGTCCCCCTG 0.577000 34 41 0 0 0.012213 0 0 OR2A14 135941 broad.mit.edu 37 7 143826661 143826661 + Silent SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr7:143826661C>T ENST00000408899.2 + 1 511 c.456C>T c.(454-456)ttC>ttT p.F152F NM_001001659.1 NP_001001659.1 Q96R47 O2A14_HUMAN olfactory receptor, family 2, subfamily A, member 14 152 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F152F(2) large_intestine(4)|lung(17)|skin(1) 22 Melanoma(164;0.0783) TGTTCAGCTTCCTCCTGGCTC 0.532000 115 132 0 0 0.014410 0 0 DNAH8 1769 broad.mit.edu 37 6 38691132 38691132 + Missense_Mutation SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr6:38691132G>A ENST00000449981.2 + 3 519 c.410G>A c.(409-411)aGg>aAg p.R137K DNAH8_ENST00000359357.3_5'UTR 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 AGAGAGGCAAGGGAAAGCCGA 0.313000 86 58 0 0 0.014410 0 0 LIM2 3982 broad.mit.edu 37 19 51883515 51883515 + Splice_Site SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr19:51883515C>T ENST00000221973.3 - 5 630 c.586_splice c.e5-1 p.G196_splice LIM2_ENST00000596399.1_Splice_Site_p.G154_splice NM_030657.3 NP_085915.2 P55344 LMIP_HUMAN lens intrinsic membrane protein 2, 19kDa 154 cell-cell junction assembly cell junction|integral to membrane structural constituent of eye lens endometrium(1)|large_intestine(3)|lung(2)|skin(1) 7 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985) TGTAGAAAATCCCTGCATGAG 0.537000 10 13 0 0 0.008291 0 0 OR9G4 283189 broad.mit.edu 37 11 56511057 56511057 + Silent SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr11:56511057G>A ENST00000302957.3 - 1 230 c.231C>T c.(229-231)ttC>ttT p.F77F NM_001005284.1 NP_001005284.1 Q8NGQ1 OR9G4_HUMAN olfactory receptor, family 9, subfamily G, member 4 77 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 GATTGCCAATGAAAAAGTACA 0.413000 34 41 0 0 0.021022 0 0 CPEB4 80315 broad.mit.edu 37 5 173317642 173317642 + Silent SNP C C G TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr5:173317642C>G ENST00000265085.5 + 1 2360 c.906C>G c.(904-906)ggC>ggG p.G302G CPEB4_ENST00000334035.5_Silent_p.G302G|CPEB4_ENST00000520867.1_Silent_p.G302G|CPEB4_ENST00000519835.1_Silent_p.G302G NM_030627.2 NP_085130.2 Q17RY0 CPEB4_HUMAN cytoplasmic polyadenylation element binding protein 4 302 Poly-Gly. nucleotide binding|RNA binding NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 20 Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) GGAGCCCGGGCGGTGGTGGAT 0.582000 54 109 0 0 0.014410 0 0 THBS3 7059 broad.mit.edu 37 1 155175012 155175012 + Nonsense_Mutation SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr1:155175012G>A ENST00000368378.3 - 3 402 c.382C>T c.(382-384)Cga>Tga p.R128* RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000457183.2_Intron|RP11-263K19.4_ENST00000430312.1_RNA|THBS3_ENST00000541990.1_5'UTR|THBS3_ENST00000428962.2_Intron|THBS3_ENST00000487250.1_5'UTR NM_001252607.1|NM_007112.4 NP_001239536.1|NP_009043.1 P49746 TSP3_HUMAN thrombospondin 3 128 TSP N-terminal. cell-matrix adhesion extracellular region|perinuclear region of cytoplasm calcium ion binding|heparin binding|structural molecule activity breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CCTCGGAGTCGCAGGAGAACT 0.622000 19 85 0 0 0.010504 0 0 FAM188B 84182 broad.mit.edu 37 7 30821777 30821777 + Missense_Mutation SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr7:30821777C>T ENST00000265299.6 + 3 445 c.368C>T c.(367-369)tCa>tTa p.S123L INMT-FAM188B_ENST00000458257.1_3'UTR NM_032222.2 NP_115598.2 Q4G0A6 F188B_HUMAN family with sequence similarity 188, member B 123 endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TATGACCTTTCAGATGAAGAT 0.383000 6 20 0 0 0.021553 0 0 OGT 8473 broad.mit.edu 37 X 70784520 70784520 + Missense_Mutation SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chrX:70784520G>A ENST00000373719.3 + 19 2723 c.2506G>A c.(2506-2508)Ggg>Agg p.G836R OGT_ENST00000373701.3_Missense_Mutation_p.G826R NM_181672.2|NM_181673.2 NP_858058.1|NP_858059.1 O15294 OGT1_HUMAN O-linked N-acetylglucosamine (GlcNAc) transferase 836 cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction cytosol|MLL5-L complex enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Renal(35;0.156) TTCTCAGTACGGGTTACCAGA 0.398000 26 3 0 0 0.021523 0 0 MCTP2 55784 broad.mit.edu 37 15 95019952 95019952 + Missense_Mutation SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr15:95019952G>A ENST00000357742.4 + 21 2498 c.2498G>A c.(2497-2499)cGa>cAa p.R833Q MCTP2_ENST00000449432.3_3'UTR|MCTP2_ENST00000451018.3_Missense_Mutation_p.R778Q NM_018349.3 NP_060819.3 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 833 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding p.R833Q(1) autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) AAGAAGCTTCGAAATCCCTAT 0.363000 29 47 0 0 0.012213 0 0 ANKRD12 23253 broad.mit.edu 37 18 9281083 9281083 + Missense_Mutation SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr18:9281083C>T ENST00000383440.2 + 12 6336 c.6079C>T c.(6079-6081)Ctt>Ttt p.L2027F ANKRD12_ENST00000400020.3_Missense_Mutation_p.L2027F|ANKRD12_ENST00000262126.3_Missense_Mutation_p.L2050F NM_001083625.2 NP_001077094.1 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 2050 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 TTATGTTCCCCTTGTTGATGT 0.418000 35 93 0 0 0.023175 0 0 NOTCH3 4854 broad.mit.edu 37 19 15276755 15276755 + Missense_Mutation SNP C C T rs138265894 by1000genomes TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr19:15276755C>T ENST00000263388.2 - 30 5585 c.5510G>A c.(5509-5511)cGt>cAt p.R1837H NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 1837 Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) CTCGCCAGTACGGTCAGTCCG 0.607000 11 28 0 0 0.010729 0 0 LAMA3 3909 broad.mit.edu 37 18 21489122 21489122 + Missense_Mutation SNP A A G TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr18:21489122A>G ENST00000313654.9 + 55 7262 c.7021A>G c.(7021-7023)Aag>Gag p.K2341E LAMA3_ENST00000587184.1_Missense_Mutation_p.K676E|LAMA3_ENST00000269217.6_Missense_Mutation_p.K732E|LAMA3_ENST00000399516.3_Missense_Mutation_p.K2285E|LAMA3_ENST00000588770.1_3'UTR NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 2341 Domain II and I. 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) AACAGTGAATAAGTTAACCAA 0.373000 22 36 0 0 0.012319 0 0 SLIT2 9353 broad.mit.edu 37 4 20599960 20599960 + Missense_Mutation SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr4:20599960C>T ENST00000504154.1 + 33 3886 c.3634C>T c.(3634-3636)Cgg>Tgg p.R1212W SLIT2_ENST00000503837.1_Missense_Mutation_p.R1208W|SLIT2_ENST00000273739.5_Missense_Mutation_p.R1225W|SLIT2_ENST00000503823.1_Missense_Mutation_p.R1204W NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 1212 Laminin G-like. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 AGAACTCTATCGGGGGCGTGT 0.473000 52 81 0 0 0.014410 0 0 AC008103.5 0 broad.mit.edu 37 22 18842454 18842454 + RNA SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr22:18842454G>A ENST00000412938.1 + 0 2208 GGCTCAGAGCGGGGCTCACAG 0.632000 4 4 0 0 0.014758 0 0 RPL7 6129 broad.mit.edu 37 8 74203428 74203428 + Missense_Mutation SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr8:74203428G>A ENST00000396467.1 - 6 616 c.478C>T c.(478-480)Cgc>Tgc p.R160C RPL7_ENST00000352983.2_Missense_Mutation_p.R200C|RPL7_ENST00000396466.1_Missense_Mutation_p.R160C|RPL7_ENST00000396465.1_Missense_Mutation_p.R160C NM_000971.3 NP_000962.2 P18124 RL7_HUMAN ribosomal protein L7 200 G -> A (in Ref. 1; CAA41026). endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit DNA binding|mRNA binding|protein homodimerization activity|structural constituent of ribosome breast(1)|kidney(1)|large_intestine(2)|lung(1) 5 Breast(64;0.0954) Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134) TCTTTGAAGCGTTTTCCAACA 0.373000 11 22 0 0 0.010729 0 0 SNHG14 104472715 broad.mit.edu 37 15 25331750 25331750 + RNA SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr15:25331750C>T ENST00000546682.1 + 0 453 SNHG14_ENST00000553108.1_RNA|SNORD116-19_ENST00000384729.1_RNA|SNHG14_ENST00000549804.2_RNA NR_003361.1 CCGTCATCCTCGTCGAACTGA 0.468000 55 88 0 0 0.014410 0 0 NDUFV3 4731 broad.mit.edu 37 21 44323607 44323607 + Missense_Mutation SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr21:44323607C>T ENST00000354250.2 + 3 554 c.485C>T c.(484-486)tCt>tTt p.S162F NDUFV3_ENST00000340344.3_Intron|NDUFV3_ENST00000460259.1_3'UTR NM_021075.3 NP_066553.3 P56181 NDUV3_HUMAN NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa 0 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I|nucleus NADH dehydrogenase (ubiquinone) activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1) 10 STAD - Stomach adenocarcinoma(101;0.0606) NADH(DB00157) TCCTCTGATTCTGAATCTGAT 0.522000 70 76 0 0 0.014410 0 0 PCDHGA6 56109 broad.mit.edu 37 5 140754042 140754042 + Missense_Mutation SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr5:140754042C>T ENST00000517434.1 + 1 392 c.392C>T c.(391-393)cCc>cTc p.P131L PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron NM_018919.2|NM_032086.1 NP_061742.1|NP_114475.1 breast(1)|large_intestine(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACAATACACCCCGATTCTTA 0.443000 38 49 0 0 0.025465 0 0 ZFP30 22835 broad.mit.edu 37 19 38126524 38126524 + Silent SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr19:38126524G>A ENST00000351218.2 - 6 1475 c.918C>T c.(916-918)gcC>gcT p.A306A ZFP30_ENST00000392144.1_Silent_p.A306A|ZFP30_ENST00000514101.2_Silent_p.A306A|ZFP30_ENST00000589018.1_Intron NM_014898.2 NP_055713.1 Q9Y2G7 ZFP30_HUMAN ZFP30 zinc finger protein 306 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 21 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TACACAGAAAGGCCTGACCAC 0.463000 51 61 0 0 0.014410 0 0 SCN11A 11280 broad.mit.edu 37 3 38921496 38921496 + Missense_Mutation SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr3:38921496C>T ENST00000450244.1 - 19 3536 c.3338G>A c.(3337-3339)gGa>gAa p.G1113E SCN11A_ENST00000456224.3_Missense_Mutation_p.G1075E|SCN11A_ENST00000444237.2_Missense_Mutation_p.G1113E|SCN11A_ENST00000302328.3_Missense_Mutation_p.G1113E Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1113 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity p.G1113E(1) NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CTTTCCAAATCCGAAGGCTAC 0.398000 17 18 0 0 0.004990 0 0 MKRN3 7681 broad.mit.edu 37 15 23811097 23811097 + Silent SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr15:23811097C>T ENST00000314520.3 + 1 644 c.168C>T c.(166-168)gcC>gcT p.A56A MKRN3_ENST00000568252.1_Silent_p.A56A|MKRN3_ENST00000564592.1_Silent_p.A56A NM_005664.3 NP_005655.1 Q13064 MKRN3_HUMAN makorin ring finger protein 3 56 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) GGGGCTGGGCCCCCTTCCCTG 0.687000 12 28 0 0 0.010729 0 0 B3GNT3 10331 broad.mit.edu 37 19 17922801 17922801 + Missense_Mutation SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr19:17922801C>T ENST00000318683.6 + 3 1136 c.989C>T c.(988-990)tCc>tTc p.S330F B3GNT3_ENST00000595387.1_Missense_Mutation_p.S330F NM_014256.3 NP_055071.2 Q9Y2A9 B3GN3_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 330 protein glycosylation Golgi membrane|integral to plasma membrane galactosyltransferase activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 21 CAACGCCTGTCCTCCTTTGAC 0.607000 57 113 0 0 0.014410 0 0 CLVS1 157807 broad.mit.edu 37 8 62212398 62212398 + Silent SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr8:62212398C>T ENST00000519846.1 + 3 484 c.12C>T c.(10-12)gtC>gtT p.V4V CLVS1_ENST00000325897.4_Silent_p.V4V|CLVS1_ENST00000518592.1_Intron Q8IUQ0 CLVS1_HUMAN clavesin 1 4 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 TGGGACCAGTCTCTCTTCTTC 0.463000 10 47 0 0 0.010729 0 0 WDR63 126820 broad.mit.edu 37 1 85595757 85595757 + Missense_Mutation SNP A A C TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr1:85595757A>C ENST00000294664.6 + 22 2674 c.2494A>C c.(2494-2496)Aag>Cag p.K832Q WDR63_ENST00000370596.1_Missense_Mutation_p.K793Q|WDR63_ENST00000326813.8_Missense_Mutation_p.K793Q NM_145172.3 NP_660155.2 Q8IWG1 WDR63_HUMAN WD repeat domain 63 832 NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3) 36 all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166) TGAGCAAGAAAAGAAAGAAAT 0.338000 69 90 0 0 0.014410 0 0 MPO 4353 broad.mit.edu 37 17 56350985 56350985 + Missense_Mutation SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr17:56350985C>T ENST00000340482.3 - 8 1683 c.1507G>A c.(1507-1509)Gcc>Acc p.A503T MPO_ENST00000225275.3_Missense_Mutation_p.A471T P05164 PERM_HUMAN myeloperoxidase 471 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 46 Cefdinir(DB00535) TTCCTCATGGCCGTTGGCCCC 0.572000 76 79 0 0 0.014410 0 0 MLIP 90523 broad.mit.edu 37 6 54025545 54025545 + Missense_Mutation SNP C C T rs141526731 byFrequency TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr6:54025545C>T ENST00000514921.1 + 8 2527 c.2414C>T c.(2413-2415)tCt>tTt p.S805F MLIP_ENST00000509997.1_Intron|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000358276.5_Intron|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000370877.2_Missense_Mutation_p.S177F|MLIP_ENST00000502396.1_Missense_Mutation_p.S816F|MLIP_ENST00000274897.5_Missense_Mutation_p.S281F Q5VWP3 MLIP_HUMAN muscular LMNA-interacting protein 281 nuclear envelope|PML body protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1) 34 cAGCATTCTTCTGATTCTCCT 0.338000 12 22 0 0 0.016723 0 0 KALRN 8997 broad.mit.edu 37 3 124416470 124416470 + Missense_Mutation SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr3:124416470C>T ENST00000360013.3 + 55 7857 c.7730C>T c.(7729-7731)gCc>gTc p.A2577V KALRN_ENST00000428018.2_Missense_Mutation_p.A848V|KALRN_ENST00000291478.4_Missense_Mutation_p.A880V NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 2576 Fibronectin type-III. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 CGCCCCATTGCCCAGGAGAGA 0.522000 8 11 0 0 0.004482 0 0 CYP7A1 1581 broad.mit.edu 37 8 59409271 59409271 + Nonsense_Mutation SNP A A T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr8:59409271A>T ENST00000301645.3 - 3 937 c.800T>A c.(799-801)tTg>tAg p.L267* NM_000780.3 NP_000771.2 P22680 CP7A1_HUMAN cytochrome P450, family 7, subfamily A, polypeptide 1 267 bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1) 34 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) AAAGGTGGACAAAGTGTCATT 0.507000 Neonatal Giant Cell Hepatitis 166 116 0 0 0.014410 0 0 IGKV3-11 28914 broad.mit.edu 37 2 89327187 89327187 + RNA SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr2:89327187C>T ENST00000483158.1 - 0 41 TCCATGGTTCCCTCTGGGTCC 0.557000 26 12 0 0 0.021523 0 0 RFWD3 55159 broad.mit.edu 37 16 74685906 74685906 + Silent SNP A A G TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr16:74685906A>G ENST00000361070.4 - 3 730 c.633T>C c.(631-633)tcT>tcC p.S211S RFWD3_ENST00000571750.1_Silent_p.S211S NM_018124.3 NP_060594.3 Q6PCD5 RFWD3_HUMAN ring finger and WD repeat domain 3 211 DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation nucleus MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 26 CAGAACTACTAGACACCTGCA 0.468000 44 67 0 0 0.008740 0 0 TXNDC2 84203 broad.mit.edu 37 18 9887014 9887014 + Missense_Mutation SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr18:9887014C>T ENST00000306084.6 + 2 737 c.538C>T c.(538-540)Ccc>Tcc p.P180S TXNDC2_ENST00000357775.4_Missense_Mutation_p.P113S|TXNDC2_ENST00000536353.2_Intron NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 180 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 GGGTGACATCCCCAAGGCCCC 0.567000 46 82 0 0 0.010771 0 0 MUC5B 727897 broad.mit.edu 37 11 1267510 1267510 + Missense_Mutation SNP A A T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr11:1267510A>T ENST00000447027.1 + 31 9467 c.9409A>T c.(9409-9411)Atc>Ttc p.I3137F MUC5B_ENST00000529681.1_Missense_Mutation_p.I3134F|RP11-532E4.2_ENST00000532061.2_RNA Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 3134 17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GACGACCTGGATCCTCACAGA 0.657000 30 71 0 0 0.008361 0 0 ZNF415 55786 broad.mit.edu 37 19 53611856 53611856 + Missense_Mutation SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr19:53611856G>A ENST00000455735.2 - 7 1906 c.1586C>T c.(1585-1587)tCa>tTa p.S529L ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000448501.1_Missense_Mutation_p.S529L|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000421033.1_Missense_Mutation_p.S493L|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000243643.4_Missense_Mutation_p.S481L|ZNF415_ENST00000440291.1_Missense_Mutation_p.S468L|ZNF415_ENST00000601493.1_Missense_Mutation_p.S251L|ZNF415_ENST00000500065.4_Missense_Mutation_p.S481L Q09FC8 ZN415_HUMAN zinc finger protein 415 529 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleolus DNA binding|zinc ion binding breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GBM - Glioblastoma multiforme(134;0.0191) AGTTAGGCTTGAATGCACACT 0.433000 53 69 0 0 0.014410 0 0 SDK2 54549 broad.mit.edu 37 17 71348646 71348646 + Silent SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr17:71348646G>A ENST00000392650.3 - 41 5724 c.5724C>T c.(5722-5724)ttC>ttT p.F1908F SDK2_ENST00000388726.3_Silent_p.F1889F|SDK2_ENST00000410094.1_5'UTR NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 1908 Fibronectin type-III 13. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 TGGGGGTGCCGAAACCATAGT 0.647000 24 14 0 0 0.027356 0 0 HIST1H2AA 221613 broad.mit.edu 37 6 25726674 25726674 + Missense_Mutation SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr6:25726674C>T ENST00000297012.3 - 1 116 c.82G>A c.(82-84)Gta>Ata p.V28I NM_170745.3 NP_734466.1 Q96QV6 H2A1A_HUMAN histone cluster 1, H2aa 28 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|endometrium(2)|large_intestine(2)|lung(8) 13 ATCCGGCCTACGGGAAACTGC 0.547000 37 42 0 0 0.021022 0 0 SSH2 85464 broad.mit.edu 37 17 27959023 27959023 + Missense_Mutation SNP G G C TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr17:27959023G>C ENST00000269033.3 - 15 3259 c.3108C>G c.(3106-3108)agC>agG p.S1036R RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.S1063R NM_033389.2 NP_203747.2 Q76I76 SSH2_HUMAN slingshot protein phosphatase 2 1036 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity SSH2/SUZ12(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CTTGCTCTCCGCTCTTCTCAC 0.478000 48 65 0 0 0.014410 0 0 PCDHB3 56132 broad.mit.edu 37 5 140481738 140481738 + Missense_Mutation SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr5:140481738C>T ENST00000231130.2 + 1 1505 c.1505C>T c.(1504-1506)tCc>tTc p.S502F AC005754.7_ENST00000607216.1_RNA NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 502 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCCTCTCTTCCCTGGTCTCC 0.657000 55 71 0 0 0.014410 0 0 CIB3 117286 broad.mit.edu 37 19 16275623 16275623 + Missense_Mutation SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr19:16275623C>T ENST00000269878.4 - 5 497 c.448G>A c.(448-450)Gag>Aag p.E150K CIB3_ENST00000541493.1_5'UTR|CIB3_ENST00000379859.3_Missense_Mutation_p.E101K NM_054113.2 NP_473454.1 Q96Q77 CIB3_HUMAN calcium and integrin binding family member 3 150 EF-hand 3. calcium ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 16 AGCACCTTCTCACATACCAGG 0.572000 32 36 0 0 0.009535 0 0 WDR53 348793 broad.mit.edu 37 3 196281400 196281400 + Silent SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr3:196281400G>A ENST00000332629.5 - 4 1326 c.759C>T c.(757-759)tcC>tcT p.S253S WDR53_ENST00000429115.1_Silent_p.S92S|WDR53_ENST00000433160.1_Silent_p.S94S NM_182627.1 NP_872433.1 Q7Z5U6 WDR53_HUMAN WD repeat domain 53 253 breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 13 all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00326) GCAGCAAATAGGATTCTGGGA 0.473000 38 61 0 0 0.025465 0 0 NRAS 4893 broad.mit.edu 37 1 115256530 115256530 + Missense_Mutation SNP G G T rs121913254 TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr1:115256530G>T ENST00000369535.4 - 3 434 c.181C>A c.(181-183)Caa>Aaa p.Q61K NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) 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) TACTCTTCTTGTCCAGCTGTA 0.458000 Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 72 90 9.35569e-46 1.41331e-45 0.014410 1 0 SYT9 143425 broad.mit.edu 37 11 7334696 7334696 + Missense_Mutation SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr11:7334696G>A ENST00000318881.6 + 3 805 c.568G>A c.(568-570)Gaa>Aaa p.E190K SYT9_ENST00000396716.2_Missense_Mutation_p.E158K NM_175733.3 NP_783860.1 Q86SS6 SYT9_HUMAN synaptotagmin IX 190 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 38 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) TCAAAAACAGGAACAGTTGAC 0.413000 13 26 0 0 0.013537 0 0 CUX2 23316 broad.mit.edu 37 12 111785344 111785344 + Missense_Mutation SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr12:111785344G>A ENST00000261726.6 + 22 3830 c.3676G>A c.(3676-3678)Gag>Aag p.E1226K NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 1226 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 GATGCGCCGGGAGATGTTGGT 0.652000 57 75 0 0 0.014410 0 0 ATP13A5 344905 broad.mit.edu 37 3 193002723 193002723 + Missense_Mutation SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr3:193002723C>T ENST00000342358.4 - 27 3323 c.3206G>A c.(3205-3207)cGa>cAa p.R1069Q ATP13A5_ENST00000495496.1_5'UTR NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 1069 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) GATGGGTTTTCGAAATGGCTT 0.378000 15 18 0 0 0.020292 0 0 CYP4A22 284541 broad.mit.edu 37 1 47606542 47606542 + Missense_Mutation SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr1:47606542C>T ENST00000371891.3 + 2 317 c.286C>T c.(286-288)Cgt>Tgt p.R96C CYP4A22_ENST00000294337.3_Missense_Mutation_p.R96C|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Missense_Mutation_p.R96C|CYP4A22-AS1_ENST00000444042.2_lincRNA NM_001010969.2 NP_001010969.2 Q5TCH4 CP4AM_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 22 96 endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 AGGCAAAGTTCGTGTCCAGCT 0.502000 46 80 0 0 0.014410 0 0 SAMD3 154075 broad.mit.edu 37 6 130530752 130530752 + Splice_Site SNP A A C TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr6:130530752A>C ENST00000368134.2 - 7 879 c.269_splice c.e7-1 p.Y91_splice SAMD3_ENST00000457563.2_Splice_Site_p.Y115_splice|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000439090.2_Splice_Site_p.Y91_splice|SAMD3_ENST00000324172.6_Splice_Site_p.Y91_splice|SAMD3_ENST00000532763.1_Intron|SAMD3_ENST00000437477.2_Splice_Site_p.Y91_splice NM_001258275.1 NP_001245204.1 Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 91 breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 29 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) TCATCCCTGTAACTAAGAAAG 0.468000 23 11 0 0 0.018920 0 0 PIGG 54872 broad.mit.edu 37 4 502700 502700 + Missense_Mutation SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr4:502700C>T ENST00000453061.2 + 5 948 c.842C>T c.(841-843)tCc>tTc p.S281F PIGG_ENST00000509768.1_Missense_Mutation_p.S192F|PIGG_ENST00000296306.7_Missense_Mutation_p.S192F|PIGG_ENST00000383028.4_Missense_Mutation_p.S148F|PIGG_ENST00000536264.1_Missense_Mutation_p.S159F|PIGG_ENST00000310340.5_Missense_Mutation_p.S281F|PIGG_ENST00000503111.1_Missense_Mutation_p.S192F|PIGG_ENST00000504346.1_Missense_Mutation_p.S192F NM_001127178.1 NP_001120650.1 Q5H8A4 PIGG_HUMAN phosphatidylinositol glycan anchor biosynthesis, class G 281 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane CP2 mannose-ethanolamine phosphotransferase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 39 GGGGCCTCCTCCACCGAGGAG 0.443000 34 42 0 0 0.012213 0 0 NUMB 8650 broad.mit.edu 37 14 73783131 73783131 + Splice_Site SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr14:73783131C>T ENST00000355058.3 - 6 480 c.e6-1 NUMB_ENST00000454166.4_Splice_Site|NUMB_ENST00000555394.1_Splice_Site|NUMB_ENST00000359560.3_Intron|NUMB_ENST00000555238.1_Splice_Site|NUMB_ENST00000560335.1_Splice_Site|NUMB_ENST00000554521.2_Intron|NUMB_ENST00000554546.1_Intron|NUMB_ENST00000557597.1_Intron|NUMB_ENST00000559312.1_Splice_Site|NUMB_ENST00000544991.3_Splice_Site|NUMB_ENST00000535282.1_Intron|NUMB_ENST00000555738.2_Intron|NUMB_ENST00000356296.4_Splice_Site P49757 NUMB_HUMAN numb homolog (Drosophila) axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis integral to plasma membrane breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 28 BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161) ACTTCCTTTCCTGGAGGAACA 0.413000 25 39 0 0 0.027356 0 0 ZNF28 7576 broad.mit.edu 37 19 53303978 53303978 + Missense_Mutation SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr19:53303978G>A ENST00000438150.2 - 2 1854 c.961C>T c.(961-963)Cgt>Tgt p.R321C ZNF28_ENST00000414252.2_Missense_Mutation_p.R321C|ZNF28_ENST00000360272.4_Missense_Mutation_p.R321C|ZNF28_ENST00000457749.2_Missense_Mutation_p.R374C P17035 ZNF28_HUMAN zinc finger protein 28 374 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) TGAAGCCTACGATGGCGTGCA 0.383000 38 40 0 0 0.017118 0 0 FPR1 2357 broad.mit.edu 37 19 52250217 52250217 + Missense_Mutation SNP T T G TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr19:52250217T>G ENST00000595042.1 - 3 172 c.31A>C c.(31-33)Atc>Ctc p.I11L FPR1_ENST00000304748.4_Missense_Mutation_p.I11L NM_001193306.1 NP_001180235.1 P21462 FPR1_HUMAN formyl peptide receptor 1 11 I -> T (in dbSNP:rs5030878). activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction endosome|integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3) 20 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018) Nedocromil(DB00716) CCTCCAGAGATGTTCGTGGGG 0.502000 13 10 0 0 0.013537 0 0 KCNK9 51305 broad.mit.edu 37 8 140631316 140631316 + Missense_Mutation SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr8:140631316C>T ENST00000520439.1 - 2 373 c.310G>A c.(310-312)Gat>Aat p.D104N KCNK9_ENST00000303015.1_Missense_Mutation_p.D104N Q9NPC2 KCNK9_HUMAN potassium channel, subfamily K, member 9 104 integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1) 43 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) TTGCCCGCATCGGTGCCAGGT 0.612000 7 26 0 0 0.003080 0 0 EVX2 344191 broad.mit.edu 37 2 176947070 176947070 + Missense_Mutation SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr2:176947070C>T ENST00000308618.4 - 2 671 c.535G>A c.(535-537)Ggt>Agt p.G179S NM_001080458.1 NP_001073927.1 Q03828 EVX2_HUMAN even-skipped homeobox 2 179 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3) 16 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115) CCGGAGCCACCCAGCGCCGCG 0.711000 4 3 0 0 0.014758 0 0 UPF1 5976 broad.mit.edu 37 19 18968188 18968188 + Silent SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr19:18968188C>T ENST00000262803.5 + 15 2300 c.2028C>T c.(2026-2028)gcC>gcT p.A676A UPF1_ENST00000599848.1_Silent_p.A687A NM_002911.3 NP_002902.2 Q92900 RENT1_HUMAN UPF1 regulator of nonsense transcripts homolog (yeast) 687 cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 AGAAGGCGGCCAAGGCCGGGC 0.647000 28 44 0 0 0.010818 0 0 ATP6V0A4 50617 broad.mit.edu 37 7 138437391 138437391 + Silent SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr7:138437391C>T ENST00000310018.2 - 11 1290 c.1008G>A c.(1006-1008)aaG>aaA p.K336K ATP6V0A4_ENST00000353492.4_Silent_p.K336K|ATP6V0A4_ENST00000393054.1_Silent_p.K336K NM_020632.2|NM_130840.2 NP_065683.2|NP_570855.2 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a4 336 cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 CCAGTGCCCTCTTGATACGTG 0.602000 12 25 0 0 0.016723 0 0 PLEKHH1 57475 broad.mit.edu 37 14 68028700 68028700 + Silent SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr14:68028700C>T ENST00000329153.5 + 6 585 c.453C>T c.(451-453)agC>agT p.S151S NM_020715.2 NP_065766.1 Q9ULM0 PKHH1_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 151 cytoskeleton binding endometrium(2)|kidney(4)|lung(12)|urinary_tract(1) 19 all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011) ATCTGAAAAGCCATAATCAGC 0.468000 26 26 0 0 0.027356 0 0 ATP6V0A4 50617 broad.mit.edu 37 7 138432306 138432306 + Missense_Mutation SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr7:138432306G>A ENST00000310018.2 - 13 1466 c.1184C>T c.(1183-1185)cCc>cTc p.P395L ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.P395L|ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.P395L NM_020632.2|NM_130840.2 NP_065683.2|NP_570855.2 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a4 395 cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 GATGGTGTAGGGGGCTGCGGA 0.577000 13 20 0 0 0.016723 0 0 CDH8 1006 broad.mit.edu 37 16 61935342 61935342 + Silent SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr16:61935342G>A ENST00000577390.1 - 3 1242 c.288C>T c.(286-288)atC>atT p.I96I CDH8_ENST00000577730.1_Silent_p.I96I|CDH8_ENST00000299345.6_Silent_p.I96I|CDH8_ENST00000584337.1_Silent_p.I96I NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 96 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) GGATATACTTGATTTTTTTGC 0.378000 17 39 0 0 0.004990 0 0 MDN1 23195 broad.mit.edu 37 6 90368015 90368015 + Silent SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr6:90368015G>A ENST00000369393.3 - 90 15211 c.15096C>T c.(15094-15096)tcC>tcT p.S5032S MDN1_ENST00000428876.1_Silent_p.S5032S Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 5032 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) TCTGCCCACAGGAGGCATGCT 0.567000 54 129 0 0 0.014410 0 0 CTR9 9646 broad.mit.edu 37 11 10794192 10794192 + Missense_Mutation SNP T T C TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr11:10794192T>C ENST00000361367.2 + 20 2996 c.2570T>C c.(2569-2571)cTt>cCt p.L857P NM_014633.3 NP_055448.1 Q6PD62 CTR9_HUMAN CTR9, Paf1/RNA polymerase II complex component 857 Lys-rich. histone H2B ubiquitination|histone monoubiquitination Cdc73/Paf1 complex|nuclear speck breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1) 40 all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) CAGAAACTTCTTAAAGAACAG 0.443000 15 20 0 0 0.028581 0 0 BRD1 23774 broad.mit.edu 37 22 50167966 50167966 + Missense_Mutation SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr22:50167966G>A ENST00000216267.8 - 12 3578 c.3092C>T c.(3091-3093)gCc>gTc p.A1031V BRD1_ENST00000404034.1_Missense_Mutation_p.A1031V|BRD1_ENST00000457780.2_3'UTR|BRD1_ENST00000342989.5_Missense_Mutation_p.A757V|BRD1_ENST00000542442.1_Missense_Mutation_p.A719V|BRD1_ENST00000404760.1_Missense_Mutation_p.A1162V NM_014577.1 NP_055392.1 O95696 BRD1_HUMAN bromodomain containing 1 1031 histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 37 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) GATCCGCACGGCCTTCCGGAT 0.572000 64 26 0 0 0.014410 0 0 KCNN3 3782 broad.mit.edu 37 1 154685944 154685944 + Missense_Mutation SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr1:154685944G>A ENST00000271915.3 - 7 2210 c.1895C>T c.(1894-1896)tCc>tTc p.S632F KCNN3_ENST00000361147.4_Missense_Mutation_p.S327F|KCNN3_ENST00000358505.2_Missense_Mutation_p.S319F NM_002249.5 NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 637 Calmodulin-binding (By similarity). integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) ACTCACCTTGGAAAGGTCCAC 0.552000 28 59 0 0 0.010818 0 0 OR52B2 255725 broad.mit.edu 37 11 6190887 6190887 + Missense_Mutation SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr11:6190887G>A ENST00000530810.1 - 1 751 c.670C>T c.(670-672)Ctc>Ttc p.L224F RP11-290F24.3_ENST00000529961.1_RNA NM_001004052.1 NP_001004052.1 Q96RD2 O52B2_HUMAN olfactory receptor, family 52, subfamily B, member 2 224 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15) 21 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACTGCTCGGAGGATCAGTGAG 0.498000 23 38 0 0 0.014323 0 0 MTMR1 8776 broad.mit.edu 37 X 149887149 149887149 + Missense_Mutation SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chrX:149887149C>T ENST00000445323.2 + 4 450 c.329C>T c.(328-330)cCa>cTa p.P110L MTMR1_ENST00000541925.1_Missense_Mutation_p.P8L|MTMR1_ENST00000370390.3_Missense_Mutation_p.P102L|MTMR1_ENST00000451863.2_Missense_Mutation_p.P102L|MTMR1_ENST00000544228.1_Missense_Mutation_p.P102L|MTMR1_ENST00000538506.1_5'UTR|MTMR1_ENST00000542156.1_Missense_Mutation_p.P102L Q13613 MTMR1_HUMAN myotubularin related protein 1 102 GRAM. 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) CCACTTTTCCCAGGAGAATCA 0.358000 20 7 0 0 0.010504 0 0 PTPRR 5801 broad.mit.edu 37 12 71139839 71139839 + Nonsense_Mutation SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr12:71139839G>A ENST00000283228.2 - 6 1218 c.766C>T c.(766-768)Cag>Tag p.Q256* PTPRR_ENST00000549308.1_Nonsense_Mutation_p.Q11*|PTPRR_ENST00000378778.1_Nonsense_Mutation_p.Q50*|PTPRR_ENST00000342084.4_Nonsense_Mutation_p.Q144*|PTPRR_ENST00000440835.2_Nonsense_Mutation_p.Q11* NM_002849.3 NP_002840.2 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 256 in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) AAGGAAAGCTGAAATCTTTCT 0.408000 10 15 0 0 0.006214 0 0 PIGK 10026 broad.mit.edu 37 1 77672386 77672386 + Nonsense_Mutation SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr1:77672386G>A ENST00000370812.3 - 3 201 c.178C>T c.(178-180)Cga>Tga p.R60* PIGK_ENST00000370813.5_Intron|PIGK_ENST00000445065.1_Intron|PIGK_ENST00000478391.1_Intron|PIGK_ENST00000359130.1_Nonsense_Mutation_p.R60* NM_005482.2 NP_005473.1 Q92643 GPI8_HUMAN phosphatidylinositol glycan anchor biosynthesis, class K 60 attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis GPI-anchor transamidase complex cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 19 GCAACATGTCGATAATTAAAC 0.368000 44 78 0 0 0.014410 0 0 LOC101929006 101929006 broad.mit.edu 37 6 29231821 29231821 + RNA SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr6:29231821G>A ENST00000441381.1 + 0 292 GGAACCCAAGGAGCATAAGCC 0.378000 22 38 0 0 0.014323 0 0 FREM2 341640 broad.mit.edu 37 13 39343808 39343808 + Missense_Mutation SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr13:39343808C>T ENST00000280481.7 + 4 5720 c.5504C>T c.(5503-5505)gCc>gTc p.A1835V NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 1835 Calx-beta 1. cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) CAGACCAGGGCCACATGGCGA 0.532000 13 49 0 0 0.016723 0 0 LPO 4025 broad.mit.edu 37 17 56342209 56342209 + Missense_Mutation SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr17:56342209C>T ENST00000262290.4 + 10 1709 c.1393C>T c.(1393-1395)Cgc>Tgc p.R465C LPO_ENST00000582328.1_Missense_Mutation_p.R382C|LPO_ENST00000421678.2_Missense_Mutation_p.R382C|LPO_ENST00000543544.1_Missense_Mutation_p.R406C NM_006151.2 NP_006142.1 P22079 PERL_HUMAN lactoperoxidase 465 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 CTTCGCCTTCCGCTTTGGCCA 0.517000 22 56 0 0 0.010504 0 0 PCSK5 5125 broad.mit.edu 37 9 78638727 78638727 + Missense_Mutation SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr9:78638727G>A ENST00000545128.1 + 4 1023 c.485G>A c.(484-486)gGa>gAa p.G162E PCSK5_ENST00000376752.4_Missense_Mutation_p.G162E|PCSK5_ENST00000376767.3_Missense_Mutation_p.G162E NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 162 Catalytic. anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 GGCTACACGGGAAAGAACATT 0.468000 42 15 0 0 0.007835 0 0 ZNF239 8187 broad.mit.edu 37 10 44052772 44052772 + Silent SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr10:44052772G>A ENST00000306006.6 - 2 1408 c.756C>T c.(754-756)atC>atT p.I252I ZNF239_ENST00000535642.1_Silent_p.I252I|ZNF239_ENST00000374446.2_Silent_p.I252I|ZNF239_ENST00000426961.1_Silent_p.I252I NM_005674.2 NP_005665.2 Q16600 ZN239_HUMAN zinc finger protein 239 252 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|RNA binding|zinc ion binding endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 CTGCCTGATGGATAAGCAGAC 0.493000 48 89 0 0 0.014410 0 0 ATP2A2 488 broad.mit.edu 37 12 110781221 110781221 + Missense_Mutation SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr12:110781221C>T ENST00000395494.2 + 15 2985 c.2422C>T c.(2422-2424)Cgt>Tgt p.R808C ATP2A2_ENST00000308664.6_Missense_Mutation_p.R835C|ATP2A2_ENST00000539276.2_Missense_Mutation_p.R835C P16615 AT2A2_HUMAN ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 835 ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 GCTCTTTTTCCGTTACTTGGC 0.418000 39 59 0 0 0.009718 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20495408 20495408 + RNA SNP G G A rs2954587 by1000genomes TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr15:20495408G>A ENST00000555186.1 + 0 611 NR_038836.1 TCTGTGTGAGGAAAATGAATC 0.388000 20 98 0 0 0.007413 0 0 ZNF728 388523 broad.mit.edu 37 19 23159477 23159477 + Missense_Mutation SNP A A T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr19:23159477A>T ENST00000594710.1 - 4 807 c.662T>A c.(661-663)aTt>aAt p.I221N NM_001267716.1 NP_001254645.1 zinc finger protein 728 TCCAGTATGAATTCTCTTATA 0.363000 14 13 0 0 0.020292 0 0 OR6C1 390321 broad.mit.edu 37 12 55714500 55714500 + Silent SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr12:55714500G>A ENST00000379668.2 + 1 155 c.117G>A c.(115-117)ggG>ggA p.G39G NM_001005182.1 NP_001005182.1 Q96RD1 OR6C1_HUMAN olfactory receptor, family 6, subfamily C, member 1 39 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 25 GCATCACTGGGAACCTGACCC 0.408000 30 32 0 0 0.008361 0 0 HNF1B 6928 broad.mit.edu 37 17 36064997 36064997 + Silent SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr17:36064997G>A ENST00000225893.4 - 6 1627 c.1266C>T c.(1264-1266)ctC>ctT p.L422L HNF1B_ENST00000427275.2_Silent_p.L396L|HNF1B_ENST00000561193.1_Silent_p.L396L|HNF1B_ENST00000560016.1_Silent_p.L422L NM_000458.2|NM_001165923.1 NP_000449.1|NP_001159395.1 P35680 HNF1B_HUMAN HNF1 homeobox B 422 endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size nucleus DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2) 28 Breast(25;0.00765)|Ovarian(249;0.15) STAD - Stomach adenocarcinoma(1;0.0142) TATGGTGGGAGAGGCTGTGGA 0.468000 169 254 0 0 0.014410 0 0 MROH9 80133 broad.mit.edu 37 1 170967503 170967503 + Missense_Mutation SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr1:170967503C>T ENST00000367758.3 + 15 1783 c.1684C>T c.(1684-1686)Cct>Tct p.P562S MROH9_ENST00000367759.4_Intron NM_025063.2 NP_079339.2 maestro heat-like repeat family member 9 CGTATCTCTCCCTCTGAATGT 0.398000 28 30 0 0 0.027356 0 0 ZNF880 400713 broad.mit.edu 37 19 52887585 52887585 + Missense_Mutation SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr19:52887585G>A ENST00000422689.2 + 4 767 c.752G>A c.(751-753)cGa>cAa p.R251Q NM_001145434.1 NP_001138906.1 Q6PDB4 ZN880_HUMAN zinc finger protein 880 251 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1) 10 CTCTTCAATCGAATTTCACTC 0.403000 14 11 0 0 0.024245 0 0 PSMB5 5693 broad.mit.edu 37 14 23502818 23502818 + Missense_Mutation SNP C C A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr14:23502818C>A ENST00000361611.6 - 2 527 c.264G>T c.(262-264)caG>caT p.Q88H PSMB5_ENST00000460922.2_Intron|AL132780.1_ENST00000385031.1_RNA|PSMB5_ENST00000425762.2_5'UTR|PSMB5_ENST00000493471.2_Missense_Mutation_p.Q88H NM_002797.3 NP_002788.1 P28074 PSB5_HUMAN proteasome (prosome, macropain) subunit, beta type, 5 88 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus protein binding|threonine-type endopeptidase activity kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1) 7 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.0121) Bortezomib(DB00188) TCTTCACCGTCTGGGAGGCAA 0.552000 23 21 3.01185e-09 4.43654e-09 0.021523 1 0 AK7 122481 broad.mit.edu 37 14 96949519 96949519 + Missense_Mutation SNP T T A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr14:96949519T>A ENST00000267584.4 + 16 1981 c.1937T>A c.(1936-1938)gTg>gAg p.V646E NM_152327.3 NP_689540.2 Q96M32 KAD7_HUMAN adenylate kinase 7 646 Glu-rich. cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity 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) CAGGAGGCCGTGGAGATGGCA 0.592000 6 14 0 0 0.021553 0 0 INTS6-AS1 100507398 broad.mit.edu 37 13 52035102 52035102 + RNA SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr13:52035102C>T ENST00000594959.1 + 0 411 INTS6-AS1_ENST00000596180.1_RNA|INTS6-AS1_ENST00000593709.1_RNA|INTS6-AS1_ENST00000595997.1_RNA|INTS6-AS1_ENST00000596303.1_RNA|INTS6-AS1_ENST00000602089.1_RNA|INTS6-AS1_ENST00000594358.1_RNA|INTS6-AS1_ENST00000596050.1_RNA|INTS6-AS1_ENST00000601572.1_RNA|RPS4XP16_ENST00000595905.1_RNA|INTS6-AS1_ENST00000601034.1_RNA|INTS6-AS1_ENST00000601318.1_RNA|INTS6-AS1_ENST00000595424.1_RNA|INTS6-AS1_ENST00000595435.1_RNA|INTS6-AS1_ENST00000593672.1_RNA|INTS6-AS1_ENST00000600477.1_RNA|INTS6-AS1_ENST00000594488.1_RNA|INTS6-AS1_ENST00000599315.1_RNA|INTS6-AS1_ENST00000594604.1_RNA|INTS6-AS1_ENST00000598864.1_RNA|INTS6-AS1_ENST00000434512.1_RNA|INTS6-AS1_ENST00000593429.1_RNA|INTS6-AS1_ENST00000597745.1_RNA|INTS6-AS1_ENST00000593928.1_RNA GTCGCACCATCCGCTACACTG 0.438000 5 19 0 0 0.014758 0 0 BORA 79866 broad.mit.edu 37 13 73305505 73305505 + Silent SNP T T A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr13:73305505T>A ENST00000390667.5 + 3 337 c.240T>A c.(238-240)gcT>gcA p.A80A BORA_ENST00000464754.1_3'UTR|BORA_ENST00000377815.3_Intron NM_024808.2 NP_079084.2 Q6PGQ7 BORA_HUMAN bora, aurora kinase A activator 80 cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization protein kinase binding ATCGTCAAGCTTTATACTTAA 0.338000 40 25 0 0 0.027894 0 0 OR10T2 128360 broad.mit.edu 37 1 158368849 158368849 + Silent SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr1:158368849G>A ENST00000334438.1 - 1 407 c.408C>T c.(406-408)atC>atT p.I136I NM_001004475.1 NP_001004475.1 Q8NGX3 O10T2_HUMAN olfactory receptor, family 10, subfamily T, member 2 136 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_hematologic(112;0.0378) TTTTGTTTATGATGAGTGTGT 0.453000 41 62 0 0 0.014410 0 0 SLC13A5 284111 broad.mit.edu 37 17 6599122 6599122 + Silent SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr17:6599122C>T ENST00000433363.2 - 7 1211 c.978G>A c.(976-978)ctG>ctA p.L326L SLC13A5_ENST00000381074.4_Silent_p.L283L|SLC13A5_ENST00000573648.1_Silent_p.L326L|SLC13A5_ENST00000293800.6_Silent_p.L309L NM_177550.3 NP_808218.1 Q86YT5 S13A5_HUMAN solute carrier family 13 (sodium-dependent citrate transporter), member 5 326 integral to membrane citrate transmembrane transporter activity breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1) 26 ACAGGATGACCAGCAGGAAGA 0.567000 83 19 0 0 0.014410 0 0 COQ6 51004 broad.mit.edu 37 14 74422197 74422197 + Silent SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr14:74422197C>T ENST00000334571.2 + 3 382 c.342C>T c.(340-342)gcC>gcT p.A114A COQ6_ENST00000394026.4_Silent_p.A89A|COQ6_ENST00000554920.1_Silent_p.A114A|COQ6_ENST00000238709.4_Intron NM_182476.2 NP_872282.1 Q9Y2Z9 COQ6_HUMAN coenzyme Q6 monooxygenase 114 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) GATACAGAGCCTTTCGGCGAA 0.458000 48 57 0 0 0.014410 0 0 SBF1 6305 broad.mit.edu 37 22 50903030 50903030 + Silent SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr22:50903030C>T ENST00000380817.2 - 14 1752 c.1569G>A c.(1567-1569)aaG>aaA p.K523K SBF1_ENST00000348911.6_Silent_p.K524K|SBF1_ENST00000390679.3_Silent_p.K523K NM_002972.2 NP_002963.2 O95248 MTMR5_HUMAN SET binding factor 1 523 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) CACCCTGCATCTTGGCTGCAG 0.692000 45 10 0 0 0.013114 0 0 ADH1C 126 broad.mit.edu 37 4 100260777 100260777 + RNA SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr4:100260777C>T ENST00000515683.1 - 0 1411 NM_000669.3 NP_000660.1 P00326 ADH1G_HUMAN alcohol dehydrogenase 1C (class I), gamma polypeptide ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) TTTATTTTTTCAAAAGGTAAA 0.368000 22 38 0 0 0.012319 0 0 ACE 1636 broad.mit.edu 37 17 61562671 61562671 + Missense_Mutation SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr17:61562671G>A ENST00000577647.1 + 2 319 c.274G>A c.(274-276)Gag>Aag p.E92K ACE_ENST00000490216.2_Missense_Mutation_p.E92K|ACE_ENST00000428043.1_Missense_Mutation_p.E666K|ACE_ENST00000421982.2_5'UTR|ACE_ENST00000413513.3_Missense_Mutation_p.E92K|ACE_ENST00000290863.6_Missense_Mutation_p.E92K|ACE_ENST00000290866.4_Missense_Mutation_p.E666K P12821 ACE_HUMAN angiotensin I converting enzyme 666 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) GGTGTGGAACGAGTATGCCGA 0.562000 17 41 0 0 0.028581 0 0 OR5B21 219968 broad.mit.edu 37 11 58275040 58275040 + Missense_Mutation SNP G G A rs140880239 by1000genomes TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr11:58275040G>A ENST00000360374.2 - 1 538 c.539C>T c.(538-540)cCc>cTc p.P180L NM_001005218.1 NP_001005218.1 A6NL26 OR5BL_HUMAN olfactory receptor, family 5, subfamily B, member 21 180 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Esophageal squamous(5;0.0027) Breast(21;0.0778) CAGGAGTGGGGGAATGTCACA 0.483000 16 25 0 0 0.024245 0 0 RP11-159L20.2 0 broad.mit.edu 37 14 31290983 31290983 + RNA SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr14:31290983G>A ENST00000554665.1 - 0 208 AAGAAGCCAAGATCAAGTTTG 0.413000 3 8 0 0 0.004672 0 0 TCF19 6941 broad.mit.edu 37 6 31127306 31127306 + Silent SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr6:31127306C>T ENST00000376257.3 + 2 814 c.60C>T c.(58-60)acC>acT p.T20T TCF19_ENST00000376255.4_Silent_p.T20T NM_007109.2 NP_009040.2 Q9Y242 TCF19_HUMAN transcription factor 19 20 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 ATCTCTACACCTTCCACCCCC 0.682000 9 8 0 0 0.008291 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70714259 70714259 + RNA SNP A A G rs7144638 by1000genomes TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr14:70714259A>G ENST00000530196.1 - 0 259 NR_003951.1 CACCACTTCCAGGGAAGTGAA 0.527000 4 85 0 0 0.021553 0 0 OR51E2 81285 broad.mit.edu 37 11 4703075 4703075 + Silent SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr11:4703075G>A ENST00000396950.3 - 2 1106 c.867C>T c.(865-867)atC>atT p.I289I NM_030774.3 NP_110401.1 Q9H255 O51E2_HUMAN olfactory receptor, family 51, subfamily E, member 2 289 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3) 23 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2) CACCATAGATGATGGGATTGA 0.522000 30 36 0 0 0.007291 0 0 POM121L12 285877 broad.mit.edu 37 7 53103886 53103886 + Silent SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr7:53103886C>T ENST00000408890.4 + 1 538 c.522C>T c.(520-522)acC>acT p.T174T NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 174 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 ACCCCTGCACCCGGGAGACTC 0.716000 14 26 0 0 0.024245 0 0 PLCH1 23007 broad.mit.edu 37 3 155241775 155241775 + Missense_Mutation SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr3:155241775G>A ENST00000460012.1 - 11 1648 c.1291C>T c.(1291-1293)Cac>Tac p.H431Y PLCH1_ENST00000447496.2_Missense_Mutation_p.H449Y|PLCH1_ENST00000414191.1_Missense_Mutation_p.H431Y|PLCH1_ENST00000340059.7_Missense_Mutation_p.H449Y|PLCH1_ENST00000334686.6_Missense_Mutation_p.H431Y|PLCH1_ENST00000494598.1_Missense_Mutation_p.H449Y Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 449 PI-PLC X-box. 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) TCCCCAAGGTGATAAGGCAAC 0.403000 75 94 0 0 0.014410 0 0 PTPRC 5788 broad.mit.edu 37 1 198711436 198711436 + Silent SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr1:198711436G>A ENST00000367376.2 + 25 2802 c.2631G>A c.(2629-2631)gtG>gtA p.V877V PTPRC_ENST00000348564.6_Silent_p.V718V|PTPRC_ENST00000594404.1_Silent_p.V716V|PTPRC_ENST00000352140.3_Silent_p.V829V|PTPRC_ENST00000442510.2_Silent_p.V879V NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 877 Tyrosine-protein phosphatase 1. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 AGAACAAAGTGGATGTTTATG 0.438000 55 74 0 0 0.014410 0 0 NECAB1 64168 broad.mit.edu 37 8 91937824 91937824 + Nonsense_Mutation SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr8:91937824C>T ENST00000417640.2 + 7 893 c.556C>T c.(556-558)Cga>Tga p.R186* NM_022351.4 NP_071746.1 Q8N987 NECA1_HUMAN N-terminal EF-hand calcium binding protein 1 186 antibiotic biosynthetic process cytoplasm calcium ion binding|oxidoreductase activity breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7) 12 BRCA - Breast invasive adenocarcinoma(11;0.0499) ATCAAGCCGCCGAGTCCAGAG 0.453000 24 15 0 0 0.021523 0 0 SPINK5 11005 broad.mit.edu 37 5 147486618 147486618 + Missense_Mutation SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr5:147486618C>T ENST00000359874.3 + 17 1571 c.1498C>T c.(1498-1500)Cgg>Tgg p.R500W SPINK5_ENST00000256084.7_Missense_Mutation_p.R500W|SPINK5_ENST00000398454.1_Missense_Mutation_p.R500W NM_001127698.1 NP_001121170.1 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 500 Kazal-like 8. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGTGAATTTCGGGACCAAGT 0.423000 39 51 0 0 0.008740 0 0 RNF17 56163 broad.mit.edu 37 13 25435510 25435510 + Silent SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr13:25435510C>T ENST00000255324.5 + 27 3931 c.3879C>T c.(3877-3879)ctC>ctT p.L1293L RNF17_ENST00000339524.3_Silent_p.L345L|RNF17_ENST00000381921.1_Silent_p.L1293L NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 1293 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) CTTGTCAGCTCCATAATACCA 0.284000 79 136 0 0 0.014410 0 0 IRGQ 126298 broad.mit.edu 37 19 44096256 44096256 + Silent SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr19:44096256G>A ENST00000422989.1 - 3 1949 c.1794C>T c.(1792-1794)caC>caT p.H598H L34079.2_ENST00000594374.1_Intron|IRGQ_ENST00000601520.1_Intron|IRGQ_ENST00000602269.1_Silent_p.H598H NM_001007561.2 NP_001007562.1 Q8WZA9 IRGQ_HUMAN immunity-related GTPase family, Q 598 Ala-rich. protein binding endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3) 18 Prostate(69;0.0199) GCAGGACGCCGTGAGCCGCTC 0.706000 7 59 0 0 0.003080 0 0 ECSIT 51295 broad.mit.edu 37 19 11623974 11623974 + Missense_Mutation SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr19:11623974G>A ENST00000270517.7 - 4 770 c.635C>T c.(634-636)cCc>cTc p.P212L ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000592312.1_Missense_Mutation_p.P96L|ECSIT_ENST00000417981.2_Intron|ECSIT_ENST00000591352.1_Intron|ECSIT_ENST00000591104.1_Missense_Mutation_p.P212L|ECSIT_ENST00000252440.7_Missense_Mutation_p.P212L NM_016581.4 NP_057665.2 Q9BQ95 ECSIT_HUMAN ECSIT signalling integrator 212 innate immune response|regulation of oxidoreductase activity mitochondrion oxidoreductase activity, acting on NADH or NADPH|protein binding kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 11 CACTGGGAAGGGGTTGACGTT 0.587000 25 42 0 0 0.016522 0 0 OTUD7A 161725 broad.mit.edu 37 15 31776565 31776565 + Missense_Mutation SNP G G C TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr15:31776565G>C ENST00000382902.1 - 11 1826 c.1734C>G c.(1732-1734)agC>agG p.S578R OTUD7A_ENST00000307050.4_Missense_Mutation_p.S571R Q8TE49 OTU7A_HUMAN OTU domain containing 7A 571 cytoplasm|nucleus cysteine-type peptidase activity|DNA binding|zinc ion binding endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) ACTCCTCCTTGCTGCCCTTGC 0.692000 11 17 0 0 0.016723 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 163580 163580 + Silent SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr5:163580C>T ENST00000283426.6 + 11 2375 c.2325C>T c.(2323-2325)agC>agT p.S775S NM_052909.3 NP_443141.3 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4B 775 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) ATGCCAGGAGCCCCCCGGTCA 0.652000 17 26 0 0 0.028581 0 0 DDR2 4921 broad.mit.edu 37 1 162731078 162731078 + Missense_Mutation SNP T T G TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr1:162731078T>G ENST00000367922.2 + 10 1371 c.933T>G c.(931-933)agT>agG p.S311R DDR2_ENST00000367921.3_Missense_Mutation_p.S311R NM_001014796.1 NP_001014796.1 Q16832 DDR2_HUMAN discoidin domain receptor tyrosine kinase 2 311 cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1) 7 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) CTGAAGCCAGTGAGTGGGAAC 0.522000 14 30 0 0 0.020292 0 0 CCT6P3 643180 broad.mit.edu 37 7 64529093 64529093 + RNA SNP G G C TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr7:64529093G>C ENST00000426828.1 + 0 783 NR_033416.1 ATAGGGAATTGACCCCTTTTC 0.333000 3 3 0 0 0.014758 0 0 OR6C74 254783 broad.mit.edu 37 12 55641256 55641256 + Missense_Mutation SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr12:55641256G>A ENST00000343870.4 + 1 275 c.185G>A c.(184-186)cGa>cAa p.R62Q NM_001005490.1 NP_001005490.1 A6NCV1 O6C74_HUMAN olfactory receptor, family 6, subfamily C, member 74 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R62Q(1) central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1) 12 TTCTTCCTCCGAAATTTCTCA 0.383000 59 74 0 0 0.014410 0 0 NIN 51199 broad.mit.edu 37 14 51223836 51223836 + Silent SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr14:51223836G>A ENST00000245441.5 - 18 4102 c.3912C>T c.(3910-3912)ttC>ttT p.F1304F NIN_ENST00000382041.3_Silent_p.F1304F|NIN_ENST00000382043.4_Intron|NIN_ENST00000324330.9_Silent_p.F1304F|NIN_ENST00000530997.2_Silent_p.F1304F|NIN_ENST00000453196.1_Silent_p.F1304F|NIN_ENST00000389868.3_Intron NM_020921.3 NP_065972.3 Q8N4C6 NIN_HUMAN ninein (GSK3B interacting protein) 1304 centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 71 all_epithelial(31;0.00244)|Breast(41;0.127) CCAGGCTGAGGAATGTTTCAG 0.428000 T PDGFRB MPD 50 62 0 0 0.014410 0 0 HNF4G 3174 broad.mit.edu 37 8 76468232 76468232 + Missense_Mutation SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr8:76468232G>A ENST00000396423.2 + 6 755 c.631G>A c.(631-633)Gct>Act p.A211T HNF4G_ENST00000354370.1_Missense_Mutation_p.A174T NM_004133.4 NP_004124.4 Q14541 HNF4G_HUMAN hepatocyte nuclear factor 4, gamma 174 endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) ACTGTTGAGAGCTCACGCAGG 0.313000 30 11 0 0 0.013726 0 0 HUWE1 10075 broad.mit.edu 37 X 53620471 53620471 + Silent SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chrX:53620471G>A ENST00000342160.3 - 31 4051 c.3594C>T c.(3592-3594)ttC>ttT p.F1198F HUWE1_ENST00000218328.8_Silent_p.F1198F|HUWE1_ENST00000262854.6_Silent_p.F1198F Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 1198 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 AGGCATCTAGGAATTCTCCTG 0.498000 24 1 0 0 0.021523 0 0 MUC16 94025 broad.mit.edu 37 19 8993398 8993398 + Silent SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr19:8993398C>T ENST00000397910.4 - 66 41894 c.41691G>A c.(41689-41691)ctG>ctA p.L13897L MUC16_ENST00000380951.5_Silent_p.L538L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13900 SEA 12. Missing (in Ref. 3; AAK74120). 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 TGTCCCTGTCCAGTGTGTAGG 0.567000 33 70 0 0 0.023175 0 0 PDE5A 8654 broad.mit.edu 37 4 120427082 120427082 + Missense_Mutation SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr4:120427082C>T ENST00000354960.3 - 17 2514 c.2195G>A c.(2194-2196)cGa>cAa p.R732Q RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000264805.5_Missense_Mutation_p.R690Q|PDE5A_ENST00000394439.1_Missense_Mutation_p.R680Q NM_001083.3 NP_001074.2 O76074 PDE5A_HUMAN phosphodiesterase 5A, cGMP-specific 732 Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding p.G733delG(1) breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 27 Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862) AAATTCTCCTCGCCTCCTACA 0.318000 11 23 0 0 0.010729 0 0 CASC5 57082 broad.mit.edu 37 15 40901081 40901081 + Nonsense_Mutation SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr15:40901081C>T ENST00000346991.5 + 5 562 c.172C>T c.(172-174)Cga>Tga p.R58* CASC5_ENST00000527044.1_Nonsense_Mutation_p.R58*|CASC5_ENST00000399668.2_Nonsense_Mutation_p.R58* Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 58 Interaction with BUB1 and BUB1B. acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) AAACTCTCGTCGAGTCAGCTT 0.313000 24 29 0 0 0.024334 0 0 ZSCAN2 54993 broad.mit.edu 37 15 85165085 85165085 + Silent SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr15:85165085G>A ENST00000448803.2 + 3 1951 c.1659G>A c.(1657-1659)ttG>ttA p.L553L ZSCAN2_ENST00000546148.1_Silent_p.L553L|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000327179.6_Silent_p.L552L|ZSCAN2_ENST00000358472.3_Silent_p.L403L NM_181877.3 NP_870992.2 Q7Z7L9 ZSCA2_HUMAN zinc finger and SCAN domain containing 2 553 cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1) 19 UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22) GAGCCCATTTGGGAGACAAGC 0.567000 56 77 0 0 0.014410 0 0 VARS 7407 broad.mit.edu 37 6 31749631 31749631 + Silent SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr6:31749631G>A ENST00000375663.3 - 19 2780 c.2340C>T c.(2338-2340)ctC>ctT p.L780L VARS_ENST00000482996.1_5'UTR|VARS_ENST00000444930.2_3'UTR NM_006295.2 NP_006286.1 P26640 SYVC_HUMAN valyl-tRNA synthetase 780 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 30 L-Valine(DB00161) TGCCTTGCTGGAGACTGATCT 0.617000 146 200 0 0 0.014410 0 0 CPEB4 80315 broad.mit.edu 37 5 173317643 173317643 + Missense_Mutation SNP G G T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr5:173317643G>T ENST00000265085.5 + 1 2361 c.907G>T c.(907-909)Ggt>Tgt p.G303C CPEB4_ENST00000334035.5_Missense_Mutation_p.G303C|CPEB4_ENST00000520867.1_Missense_Mutation_p.G303C|CPEB4_ENST00000519835.1_Missense_Mutation_p.G303C NM_030627.2 NP_085130.2 Q17RY0 CPEB4_HUMAN cytoplasmic polyadenylation element binding protein 4 303 Poly-Gly. nucleotide binding|RNA binding NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 20 Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) GAGCCCGGGCGGTGGTGGATA 0.582000 55 105 6.30371e-39 9.48227e-39 0.014410 1 0 TRAV26-2 28656 broad.mit.edu 37 14 22671215 22671215 + RNA SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr14:22671215C>T ENST00000390460.1 + 0 280 GATCCTGCACCGTGCTACCTT 0.502000 10 17 0 0 0.010729 0 0 INADL 10207 broad.mit.edu 37 1 62594552 62594552 + Missense_Mutation SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr1:62594552G>A ENST00000371158.2 + 41 5320 c.5206G>A c.(5206-5208)Gat>Aat p.D1736N NM_176877.2 NP_795352.2 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 1736 PDZ 10. intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 GCAACCTTTGGATGGGCTGTC 0.453000 59 91 0 0 0.014410 0 0 KCNK9 51305 broad.mit.edu 37 8 140630869 140630869 + Missense_Mutation SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr8:140630869C>T ENST00000520439.1 - 2 820 c.757G>A c.(757-759)Gat>Aat p.D253N KCNK9_ENST00000303015.1_Missense_Mutation_p.D253N Q9NPC2 KCNK9_HUMAN potassium channel, subfamily K, member 9 253 integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1) 43 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) CGCCGCTCATCCTCACTGTTC 0.597000 82 30 0 0 0.014410 0 0 MXRA5 25878 broad.mit.edu 37 X 3228149 3228149 + Missense_Mutation SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chrX:3228149G>A ENST00000217939.6 - 7 8249 c.8095C>T c.(8095-8097)Cgt>Tgt p.R2699C NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2699 Ig-like C2-type 11. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GAGGCCTCACGAACCGTGAGG 0.597000 32 6 0 0 0.017118 0 0 CLCN3 1182 broad.mit.edu 37 4 170601278 170601278 + Missense_Mutation SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr4:170601278C>T ENST00000513761.1 + 3 797 c.238C>T c.(238-240)Cca>Tca p.P80S CLCN3_ENST00000347613.4_Missense_Mutation_p.P80S|CLCN3_ENST00000504131.2_Missense_Mutation_p.P63S|CLCN3_ENST00000360642.3_Missense_Mutation_p.P80S NM_001829.3 NP_001820.2 P51790 CLCN3_HUMAN chloride channel, voltage-sensitive 3 80 endosomal lumen acidification cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 29 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131) TGAACCAATTCCAGGTGTTGG 0.358000 23 22 0 0 0.021523 0 0 TRBV7-3 28595 broad.mit.edu 37 7 142247149 142247149 + RNA SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr7:142247149G>A ENST00000390361.3 - 0 356 GAGTCCCCCCGCTCTGTGCGC 0.572000 21 44 0 0 0.012319 0 0 HEXIM2 124790 broad.mit.edu 37 17 43246478 43246478 + Missense_Mutation SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr17:43246478G>A ENST00000307275.3 + 4 599 c.163G>A c.(163-165)Gat>Aat p.D55N RP13-890H12.2_ENST00000589796.1_RNA|HEXIM2_ENST00000592695.1_Missense_Mutation_p.D55N|HEXIM2_ENST00000591576.1_Missense_Mutation_p.D55N NM_144608.1 NP_653209.1 Q96MH2 HEXI2_HUMAN hexamethylene bis-acetamide inducible 2 55 negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding endometrium(1)|large_intestine(3)|lung(1) 5 CCACTCAGAGGATGAAGATCT 0.667000 65 104 0 0 0.014410 0 0 KALRN 8997 broad.mit.edu 37 3 124438176 124438176 + Silent SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr3:124438176C>T ENST00000360013.3 + 60 8947 c.8820C>T c.(8818-8820)ccC>ccT p.P2940P KALRN_ENST00000428018.2_Silent_p.P1211P|KALRN_ENST00000291478.4_Silent_p.P1243P NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 2939 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 GGCTGCAGCCCCATAATGGCA 0.532000 21 48 0 0 0.010504 0 0 CASP14 23581 broad.mit.edu 37 19 15164549 15164549 + Silent SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr19:15164549C>T ENST00000427043.3 + 4 491 c.183C>T c.(181-183)ttC>ttT p.F61F CASP14_ENST00000221740.1_Silent_p.F61F NM_012114.2 NP_036246.1 P31944 CASPE_HUMAN caspase 14, apoptosis-related cysteine peptidase 61 apoptosis|cell differentiation|epidermis development|proteolysis cytoplasm|nucleus cysteine-type endopeptidase activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3) 26 TCCAGCAATTCCAGGAAGAGC 0.562000 27 38 0 0 0.024334 0 0 SPHKAP 80309 broad.mit.edu 37 2 228886527 228886527 + Silent SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr2:228886527C>T ENST00000392056.3 - 6 643 c.597G>A c.(595-597)ctG>ctA p.L199L SPHKAP_ENST00000344657.5_Silent_p.L199L NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 199 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TGTCATCCTCCAGTTTCAAGA 0.463000 21 17 0 0 0.012319 0 0 DMRTC2 63946 broad.mit.edu 37 19 42351543 42351543 + Missense_Mutation SNP C C A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr19:42351543C>A ENST00000269945.3 + 2 98 c.47C>A c.(46-48)tCt>tAt p.S16Y DMRTC2_ENST00000602098.1_3'UTR|DMRTC2_ENST00000596827.1_Missense_Mutation_p.S16Y NM_001040283.1 NP_001035373.1 Q8IXT2 DMRTD_HUMAN DMRT-like family C2 16 cell differentiation|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 10 CCCTTAGACTCTGCCCCCTGG 0.627000 44 58 1.61004e-24 2.40153e-24 0.014410 1 0 DPYD 1806 broad.mit.edu 37 1 98144692 98144692 + Missense_Mutation SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr1:98144692G>A ENST00000370192.3 - 8 909 c.809C>T c.(808-810)aCt>aTt p.T270I NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 270 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) TTCTTTCAAAGTGCTAAGAGT 0.264000 3 7 0 0 0.014758 0 0 WBSCR17 64409 broad.mit.edu 37 7 71175806 71175806 + Missense_Mutation SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr7:71175806C>T ENST00000333538.5 + 10 2195 c.1561C>T c.(1561-1563)Ctc>Ttc p.L521F WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 521 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) CACCACACTCCTCCCTGACAC 0.617000 28 55 0 0 0.006320 0 0 SEMA5A 9037 broad.mit.edu 37 5 9052067 9052067 + Silent SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr5:9052067G>A ENST00000382496.5 - 20 3428 c.2763C>T c.(2761-2763)atC>atT p.I921I NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 921 TSP type-1 7. cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 GGAACAGGAGGATGCACTGGC 0.592000 13 31 0 0 0.016723 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90161902 90161902 + RNA SNP A A G rs6500471 by1000genomes TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr16:90161902A>G ENST00000564451.1 + 0 1255 TUBB8P7_ENST00000567960.1_RNA p.K213R(8) ATATGTTCCAAGACCCTAAAA 0.537000 4 34 0 0 0.009096 0 0 FGL1 2267 broad.mit.edu 37 8 17739657 17739657 + Missense_Mutation SNP C C T rs140117264 TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr8:17739657C>T ENST00000398056.2 - 5 910 c.95G>A c.(94-96)cGg>cAg p.R32Q FGL1_ENST00000398054.1_Missense_Mutation_p.R32Q|RP11-156K13.2_ENST00000519368.1_RNA|FGL1_ENST00000522444.1_Missense_Mutation_p.R32Q|FGL1_ENST00000518650.1_Missense_Mutation_p.R32Q|FGL1_ENST00000381841.2_Missense_Mutation_p.R32Q|FGL1_ENST00000427924.1_Missense_Mutation_p.R32Q|FGL1_ENST00000381840.2_Missense_Mutation_p.R32Q Q08830 FGL1_HUMAN fibrinogen-like 1 32 signal transduction fibrinogen complex receptor binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4) 13 Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215) GGCTCTGAGCCGCATCTGCTC 0.493000 23 47 0 0 0.021523 0 0 PCDHB2 56133 broad.mit.edu 37 5 140475273 140475273 + Missense_Mutation SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr5:140475273C>T ENST00000194155.4 + 1 1047 c.899C>T c.(898-900)tCg>tTg p.S300L NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 300 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding p.S300*(1) NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGTGCAAAATCGGGAGAACTG 0.413000 28 55 0 0 0.006320 0 0 WRN 7486 broad.mit.edu 37 8 31000192 31000192 + Missense_Mutation SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr8:31000192C>T ENST00000298139.5 + 27 3533 c.3284C>T c.(3283-3285)cCa>cTa p.P1095L NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 1095 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) AATCAAGTACCAGTTGAATTA 0.239000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 26 40 0 0 0.012213 0 0 OR4F6 390648 broad.mit.edu 37 15 102346044 102346044 + Missense_Mutation SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr15:102346044G>A ENST00000328882.4 + 1 143 c.122G>A c.(121-123)gGa>gAa p.G41E NM_001005326.1 NP_001005326.1 Q8NGB9 OR4F6_HUMAN olfactory receptor, family 4, subfamily F, member 6 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) AGCCTGATGGGAAATCTCCTC 0.483000 109 150 0 0 0.014410 0 0 OR51B2 79345 broad.mit.edu 37 11 5345040 5345040 + Missense_Mutation SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr11:5345040G>A ENST00000328813.2 - 1 542 c.488C>T c.(487-489)tCa>tTa p.S163L HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron NM_033180.4 NP_149420.4 Q9Y5P1 O51B2_HUMAN olfactory receptor, family 51, subfamily B, member 2 163 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATATGAAAATGAAAAAAGACG 0.398000 27 27 0 0 0.027356 0 0 C16orf78 123970 broad.mit.edu 37 16 49430546 49430546 + Missense_Mutation SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr16:49430546G>A ENST00000299191.3 + 4 724 c.607G>A c.(607-609)Gaa>Aaa p.E203K NM_144602.2 NP_653203.1 Q8WTQ4 CP078_HUMAN chromosome 16 open reading frame 78 203 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1) 22 ACCTAAGATGGAAACCATGAG 0.552000 16 24 0 0 0.004990 0 0 ARMC5 79798 broad.mit.edu 37 16 31476161 31476161 + Missense_Mutation SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr16:31476161C>T ENST00000457010.2 + 4 2518 c.1817C>T c.(1816-1818)cCg>cTg p.P606L ARMC5_ENST00000268314.4_Missense_Mutation_p.P606L|ARMC5_ENST00000408912.3_Missense_Mutation_p.P701L|ARMC5_ENST00000538189.1_Missense_Mutation_p.P638L|ARMC5_ENST00000412665.2_Missense_Mutation_p.P250L|ARMC5_ENST00000563544.1_Missense_Mutation_p.P606L NM_024742.2 NP_079018.1 Q96C12 ARMC5_HUMAN armadillo repeat containing 5 606 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 GACGATTGGCCGGCACCACGT 0.701000 11 11 0 0 0.016723 0 0 ZSWIM5 57643 broad.mit.edu 37 1 45484195 45484195 + Silent SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr1:45484195G>A ENST00000359600.5 - 14 3694 c.3489C>T c.(3487-3489)atC>atT p.I1163I NM_020883.1 NP_065934.1 Q9P217 ZSWM5_HUMAN zinc finger, SWIM-type containing 5 1163 zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Acute lymphoblastic leukemia(166;0.155) TGAGGTTGTCGATGAACTGGG 0.537000 OREG0013450 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 82 121 0 0 0.014410 0 0 RDH16 8608 broad.mit.edu 37 12 57348854 57348854 + Silent SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr12:57348854C>T ENST00000398138.3 - 2 1264 c.408G>A c.(406-408)gtG>gtA p.V136V RDH16_ENST00000360752.4_Intron NM_003708.3 NP_003699.3 O75452 RDH16_HUMAN retinol dehydrogenase 16 (all-trans) 136 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome binding|electron carrier activity|retinol dehydrogenase activity haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9) 16 CCAACAAGTTCACGTCCAGTA 0.587000 33 35 0 0 0.013726 0 0 FSIP2 401024 broad.mit.edu 37 2 186670597 186670597 + Missense_Mutation SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr2:186670597G>A ENST00000343098.5 + 17 16831 c.16831G>A c.(16831-16833)Gaa>Aaa p.E5611K FSIP2_ENST00000424728.1_Missense_Mutation_p.E5522K NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 GGAAGTGGATGAAAATAAAGT 0.343000 29 12 0 0 0.007291 0 0 SPTA1 6708 broad.mit.edu 37 1 158596698 158596698 + Silent SNP A A G TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr1:158596698A>G ENST00000368148.3 - 41 5944 c.5764T>C c.(5764-5766)Ttg>Ctg p.L1922L SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Silent_p.L1919L NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1922 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TCCAATTGCAACTTCCAAGCA 0.468000 70 119 0 0 0.014410 0 0 TUBB8 347688 broad.mit.edu 37 10 93359 93359 + Missense_Mutation SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr10:93359C>T ENST00000447903.2 - 4 1072 c.757G>A c.(757-759)Gag>Aag p.E253K TUBB8_ENST00000309812.4_Missense_Mutation_p.E325K Q3ZCM7 TBB8_HUMAN tubulin, beta 8 class VIII 325 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1) 32 all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235) Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132) TCATCCACCTCCCTCATGGGC 0.522000 48 86 0 0 0.013114 0 0 GPR4 2828 broad.mit.edu 37 19 46094942 46094942 + Silent SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr19:46094942G>A ENST00000323040.4 - 2 1127 c.183C>T c.(181-183)atC>atT p.I61I OPA3_ENST00000544371.1_Intron NM_005282.2 NP_005273.1 P46093 GPR4_HUMAN G protein-coupled receptor 4 61 integral to plasma membrane G-protein coupled receptor activity breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223) GCAGGTCGGCGATGCTGAGGT 0.647000 30 47 0 0 0.009535 0 0 CRMP1 1400 broad.mit.edu 37 4 5843034 5843034 + Splice_Site SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr4:5843034C>T ENST00000324989.7 - 8 1242 c.e8+1 CRMP1_ENST00000511535.1_Splice_Site|CRMP1_ENST00000397890.2_Splice_Site|CRMP1_ENST00000512574.1_Splice_Site NM_001014809.1 NP_001014809.1 Q14194 DPYL1_HUMAN collapsin response mediator protein 1 axon guidance|pyrimidine base catabolic process cytosol|microtubule organizing center|spindle dihydropyrimidinase activity|protein binding NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 Colorectal(103;0.0721) CGGCTGCATACCTTTCTTCCT 0.627000 90 123 0 0 0.014410 0 0 C10orf71 118461 broad.mit.edu 37 10 50532573 50532573 + Silent SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr10:50532573G>A ENST00000374144.3 + 3 2271 c.1983G>A c.(1981-1983)gaG>gaA p.E661E C10orf71_ENST00000323868.4_Silent_p.E661E Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 661 endometrium(1) 1 GGGCTACAGAGAAAATGAAGA 0.552000 7 16 0 0 0.001984 0 0 CDC14A 8556 broad.mit.edu 37 1 100949997 100949997 + Missense_Mutation SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr1:100949997G>A ENST00000336454.3 + 11 1482 c.1127G>A c.(1126-1128)cGa>cAa p.R376Q CDC14A_ENST00000370125.2_3'UTR|RP5-837M10.4_ENST00000432210.1_RNA|CDC14A_ENST00000544534.1_Missense_Mutation_p.R376Q|CDC14A_ENST00000542213.1_Missense_Mutation_p.R318Q|CDC14A_ENST00000361544.6_Missense_Mutation_p.R376Q|CDC14A_ENST00000370124.3_Missense_Mutation_p.R376Q NM_003672.3 NP_003663.2 Q9UNH5 CC14A_HUMAN cell division cycle 14A 376 cell cycle|cell division|cell proliferation centrosome|nucleus|spindle protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R376Q(1) breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1) 31 all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001) Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241) AACATGGAACGATTTGGAGAG 0.343000 18 31 0 0 0.007413 0 0 ARHGAP11A 9824 broad.mit.edu 37 15 32929996 32929996 + Missense_Mutation SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr15:32929996C>T ENST00000361627.3 + 12 3744 c.3022C>T c.(3022-3024)Cct>Tct p.P1008S ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.P819S|ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.P819S NM_014783.3 NP_055598.1 Q6P4F7 RHGBA_HUMAN Rho GTPase activating protein 11A 1008 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_lung(180;1.3e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) TCCAAAACATCCTATCGGAAA 0.353000 11 15 0 0 0.008291 0 0 FUT9 10690 broad.mit.edu 37 6 96651941 96651941 + Missense_Mutation SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr6:96651941G>A ENST00000302103.5 + 3 1236 c.910G>A c.(910-912)Gaa>Aaa p.E304K NM_006581.3 NP_006572.2 Q9Y231 FUT9_HUMAN fucosyltransferase 9 (alpha (1,3) fucosyltransferase) 304 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) GTATCTGAAGGAAGTCGACAA 0.378000 19 62 0 0 0.006122 0 0 ZNF227 7770 broad.mit.edu 37 19 44739804 44739804 + Silent SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr19:44739804C>T ENST00000313040.7 + 6 1426 c.1221C>T c.(1219-1221)ccC>ccT p.P407P ZNF227_ENST00000589005.1_Silent_p.P356P|ZNF227_ENST00000391961.2_Silent_p.P356P NM_182490.1 NP_872296.1 Q86WZ6 ZN227_HUMAN zinc finger protein 227 407 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1) 24 Prostate(69;0.0435) GTGAGAAGCCCTATAAATGTG 0.478000 28 29 0 0 0.027356 0 0 TRABD2A 129293 broad.mit.edu 37 2 85051283 85051283 + Silent SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr2:85051283G>A ENST00000335459.5 - 5 1186 c.981C>T c.(979-981)atC>atT p.I327I TRABD2A_ENST00000409520.2_Silent_p.I376I|TRABD2A_ENST00000479944.1_5'UTR NM_001080824.1 NP_001074293.1 TraB domain containing 2A p.I327M(1)|p.I376M(1) TTGGAGCAAAGATGGTGGACA 0.582000 19 4 0 0 0.008871 0 0 PCDHB6 56130 broad.mit.edu 37 5 140531680 140531680 + Silent SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr5:140531680C>T ENST00000231136.1 + 1 1842 c.1842C>T c.(1840-1842)ggC>ggT p.G614G PCDHB6_ENST00000543635.1_Silent_p.G478G NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 614 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTCTGTTCGGCGTGTGGGCGC 0.667000 4 40 0 0 0.003080 0 0 TRIM3 10612 broad.mit.edu 37 11 6477849 6477849 + Silent SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr11:6477849C>T ENST00000525074.1 - 6 1501 c.1107G>A c.(1105-1107)ccG>ccA p.P369P TRIM3_ENST00000529058.1_5'UTR|TRIM3_ENST00000345851.3_Silent_p.P369P|TRIM3_ENST00000537602.1_Silent_p.P291P|TRIM3_ENST00000536344.1_Silent_p.P250P|TRIM3_ENST00000359518.3_Silent_p.P369P NM_001248006.1 NP_001234935.1 O75382 TRIM3_HUMAN tripartite motif containing 3 369 nervous system development|protein transport early endosome protein C-terminus binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3) 27 all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCGTGCCGTCCGGGCCGGTGA 0.642000 33 27 0 0 0.017118 0 0 H2BFWT 158983 broad.mit.edu 37 X 103268042 103268042 + Missense_Mutation SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chrX:103268042C>T ENST00000217926.5 - 1 217 c.191G>A c.(190-192)cGa>cAa p.R64Q NM_001002916.3 NP_001002916.2 Q7Z2G1 H2BWT_HUMAN H2B histone family, member W, testis-specific 64 nucleosome assembly nuclear membrane|nucleosome DNA binding breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 16 ATGGCGCCCTCGCTTCCTCTG 0.637000 22 5 0 0 0.014323 0 0 IGSF10 285313 broad.mit.edu 37 3 151165385 151165385 + Missense_Mutation SNP T T G TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr3:151165385T>G ENST00000282466.3 - 4 2383 c.2384A>C c.(2383-2385)gAt>gCt p.D795A NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 795 D -> N (in dbSNP:rs58583961). cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCCTGAGGAATCGTCTTCTTC 0.488000 30 58 0 0 0.008361 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70714144 70714144 + RNA SNP A A G rs111296958 by1000genomes TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr14:70714144A>G ENST00000530196.1 - 0 374 NR_003951.1 AGAGCTTCTTAACCCTCATAT 0.502000 5 83 0 0 0.014758 0 0 TXK 7294 broad.mit.edu 37 4 48078475 48078475 + Silent SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr4:48078475C>T ENST00000264316.4 - 12 1267 c.1182G>A c.(1180-1182)agG>agA p.R394R TXK_ENST00000507351.1_Silent_p.R49R NM_003328.2 NP_003319.2 P42681 TXK_HUMAN TXK tyrosine kinase 394 Protein kinase. cytoplasm ATP binding|non-membrane spanning protein tyrosine kinase activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2) 25 CCAAACAATTCCTTGCCGCCT 0.333000 32 37 0 0 0.019004 0 0 LRP3 4037 broad.mit.edu 37 19 33695571 33695571 + Silent SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr19:33695571C>T ENST00000253193.7 + 4 490 c.288C>T c.(286-288)tcC>tcT p.S96S LRP3_ENST00000592484.1_3'UTR NM_002333.3 NP_002324.2 O75074 LRP3_HUMAN low density lipoprotein receptor-related protein 3 96 CUB 1. receptor-mediated endocytosis coated pit|integral to membrane receptor activity breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2) 15 Esophageal squamous(110;0.137) TGGAGGAGTCCCACCAGTGCT 0.672000 48 68 0 0 0.014410 0 0 SGOL2 151246 broad.mit.edu 37 2 201438005 201438005 + Missense_Mutation SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr2:201438005C>T ENST00000357799.4 + 7 3034 c.2936C>T c.(2935-2937)tCc>tTc p.S979F NM_001160033.1|NM_001160046.1|NM_152524.5 NP_001153505.1|NP_001153518.1|NP_689737.4 Q562F6 SGOL2_HUMAN shugoshin-like 2 (S. pombe) 979 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 46 ATTTTAGATTCCTACAAAGTA 0.294000 26 8 0 0 0.018920 0 0 PDE2A 5138 broad.mit.edu 37 11 72297156 72297156 + Silent SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr11:72297156G>A ENST00000334456.5 - 14 1385 c.1140C>T c.(1138-1140)acC>acT p.T380T PDE2A_ENST00000544570.1_Silent_p.T373T|PDE2A_ENST00000418754.2_Silent_p.T265T|RP11-169D4.2_ENST00000545254.1_RNA|PDE2A_ENST00000540345.1_Silent_p.T371T|PDE2A_ENST00000376450.3_Silent_p.T124T|PDE2A_ENST00000444035.2_Silent_p.T371T NM_002599.4 NP_002590.1 O00408 PDE2A_HUMAN phosphodiesterase 2A, cGMP-stimulated 380 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 36 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) GGAAGGCCAGGGTGCTGGTGA 0.607000 OREG0021196 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 46 181 0 0 0.014410 0 0 NBEA 26960 broad.mit.edu 37 13 35747690 35747690 + Nonsense_Mutation SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr13:35747690C>T ENST00000540320.1 + 27 5047 c.4513C>T c.(4513-4515)Cag>Tag p.Q1505* NBEA_ENST00000379939.2_Nonsense_Mutation_p.Q1502*|NBEA_ENST00000310336.4_Nonsense_Mutation_p.Q1505*|NBEA_ENST00000400445.3_Nonsense_Mutation_p.Q1505* Q8NFP9 NBEA_HUMAN neurobeachin 1505 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) CAGTAAACCTCAGGAAGTTCC 0.358000 8 42 0 0 0.010729 0 0 LOC645752 645752 broad.mit.edu 37 15 78208916 78208916 + RNA SNP C C G rs56290535 by1000genomes TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr15:78208916C>G ENST00000565869.1 + 0 53 TCCAGATGTTCTCCTCCATCT 0.627000 4 66 0 0 0.014758 0 0 SLC28A2 9153 broad.mit.edu 37 15 45561731 45561731 + Missense_Mutation SNP T T A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr15:45561731T>A ENST00000347644.3 + 14 1629 c.1564T>A c.(1564-1566)Tct>Act p.S522T CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA NM_004212.3 NP_004203.2 O43868 S28A2_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 2 522 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1) 26 all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06) ACAGTGGATTTCTGTAAGTGA 0.438000 17 17 0 0 0.028581 0 0 PDZRN4 29951 broad.mit.edu 37 12 41949548 41949548 + Missense_Mutation SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr12:41949548G>A ENST00000298919.7 + 7 959 c.571G>A c.(571-573)Gat>Aat p.D191N PDZRN4_ENST00000539469.2_Missense_Mutation_p.D193N|PDZRN4_ENST00000402685.2_Missense_Mutation_p.D451N Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 451 ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) TCGAGAAGGGGATCGGATTTT 0.408000 34 47 0 0 0.025465 0 0 FRMPD1 22844 broad.mit.edu 37 9 37708479 37708479 + Nonsense_Mutation SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr9:37708479C>T ENST00000539465.1 + 4 936 c.343C>T c.(343-345)Cga>Tga p.R115* FRMPD1_ENST00000377765.3_Nonsense_Mutation_p.R115*|RP11-613M10.9_ENST00000540557.1_Intron Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 115 PDZ. cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) TTCCTGGGAACGAGCAGTCGA 0.448000 12 110 0 0 0.010729 0 0 TTN 7273 broad.mit.edu 37 2 179431635 179431635 + Silent SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr2:179431635G>A ENST00000589042.1 - 326 79448 c.79224C>T c.(79222-79224)aaC>aaT p.N26408N TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.N17468N|TTN_ENST00000342992.6_Silent_p.N23840N|TTN_ENST00000342175.6_Silent_p.N17535N|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.N17343N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.N24767N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 24767 Ig-like 127. 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) TATCTGGACGGTTCCAACAGA 0.413000 45 17 0 0 0.011902 0 0 OR6B3 150681 broad.mit.edu 37 2 240984604 240984604 + Missense_Mutation SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr2:240984604C>T ENST00000319423.4 - 1 885 c.886G>A c.(886-888)Gaa>Aaa p.E296K NM_173351.1 NP_775486.1 Q8NGW1 OR6B3_HUMAN olfactory receptor, family 6, subfamily B, member 3 296 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1) 18 all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141) TTCTTAAATTCCTTATTCCTC 0.478000 92 25 0 0 0.014410 0 0 CACNA1E 777 broad.mit.edu 37 1 181765865 181765865 + Silent SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr1:181765865G>A ENST00000526775.1 + 45 6249 c.6084G>A c.(6082-6084)aaG>aaA p.K2028K CACNA1E_ENST00000367570.1_Silent_p.K2047K|CACNA1E_ENST00000367573.2_Silent_p.K2090K|CACNA1E_ENST00000357570.5_Silent_p.K2041K|CACNA1E_ENST00000358338.5_Silent_p.K1979K|CACNA1E_ENST00000360108.3_Silent_p.K2071K|CACNA1E_ENST00000367567.4_Silent_p.K1654K NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 2090 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 AAGAGCGAAAGCATCTTCTCT 0.572000 16 16 0 0 0.004990 0 0 KMT2A 4297 broad.mit.edu 37 11 118376065 118376065 + Missense_Mutation SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr11:118376065G>A ENST00000534358.1 + 27 9481 c.9458G>A c.(9457-9459)aGc>aAc p.S3153N KMT2A_ENST00000389506.5_Missense_Mutation_p.S3150N|KMT2A_ENST00000354520.4_Missense_Mutation_p.S3112N NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A CCTTCTGCTAGCAAAGGATTG 0.473000 168 17 0 0 0.014410 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156909492 156909492 + Missense_Mutation SNP G G C TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr1:156909492G>C ENST00000368194.3 - 37 4983 c.3944C>G c.(3943-3945)cCa>cGa p.P1315R ARHGEF11_ENST00000361409.2_Missense_Mutation_p.P1275R|ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.P691R NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 1275 actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TTCCTGCTCTGGCCGTTCCCC 0.612000 25 15 0 0 0.021523 0 0 MARCH11 441061 broad.mit.edu 37 5 16067654 16067654 + Missense_Mutation SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr5:16067654G>A ENST00000332432.8 - 4 1334 c.1135C>T c.(1135-1137)Cgg>Tgg p.R379W NM_001102562.1 NP_001096032.1 A6NNE9 MARHB_HUMAN membrane-associated ring finger (C3HC4) 11 379 cytoplasmic vesicle membrane|integral to membrane ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1) 20 GGCCTCATCCGATTGAACAGG 0.478000 74 97 0 0 0.014410 0 0 GPR137C 283554 broad.mit.edu 37 14 53066835 53066835 + Silent SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr14:53066835C>T ENST00000321662.6 + 3 493 c.493C>T c.(493-495)Cta>Tta p.L165L NM_001099652.1 NP_001093122.1 Q8N3F9 G137C_HUMAN G protein-coupled receptor 137C 165 integral to membrane NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 8 Breast(41;0.0716) TTTCAGAATTCTACTGCATTT 0.333000 44 45 0 0 0.011902 0 0 OR2Z1 284383 broad.mit.edu 37 19 8842008 8842008 + Silent SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr19:8842008C>T ENST00000324060.2 + 1 693 c.618C>T c.(616-618)atC>atT p.I206I NM_001004699.1 NP_001004699.1 Q8NG97 OR2Z1_HUMAN olfactory receptor, family 2, subfamily Z, member 1 206 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GGGTGCTGATCCTAATGCTCC 0.572000 38 52 0 0 0.021022 0 0 LRP1B 53353 broad.mit.edu 37 2 140995774 140995774 + Missense_Mutation SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr2:140995774C>T ENST00000389484.3 - 89 14478 c.13507G>A c.(13507-13509)Gat>Aat p.D4503N NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4503 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TCGTTGTGATCATGATCTACC 0.353000 TSP Lung(27;0.18) 26 11 0 0 0.007291 0 0 PCDHB11 56125 broad.mit.edu 37 5 140579467 140579467 + Silent SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr5:140579467G>A ENST00000354757.3 + 1 120 c.120G>A c.(118-120)caG>caA p.Q40Q PCDHB11_ENST00000536699.1_Intron NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN 40 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAGAAATGCAGAGCGGGAGTT 0.527000 35 64 0 0 0.015359 0 0 ITIH1 3697 broad.mit.edu 37 3 52825798 52825798 + Splice_Site SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr3:52825798G>A ENST00000273283.2 + 22 2631 c.2606_splice c.e22-1 p.R869_splice ITIH1_ENST00000542827.1_3'UTR|ITIH1_ENST00000540715.1_Splice_Site_p.R727_splice|ITIH1_ENST00000405128.3_Splice_Site_p.R235_splice|ITIH1_ENST00000537050.1_Splice_Site_p.R581_splice NM_002215.3 NP_002206.2 P19827 ITIH1_HUMAN inter-alpha-trypsin inhibitor heavy chain 1 869 Hyaluronan-binding. hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 52 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) CTCTGCACAGGGGTTTGCAAA 0.587000 9 21 0 0 0.004482 0 0 WIF1 11197 broad.mit.edu 37 12 65461507 65461507 + Missense_Mutation SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr12:65461507G>A ENST00000286574.4 - 5 976 c.602C>T c.(601-603)cCt>cTt p.P201L NM_007191.4 NP_009122.2 Q9Y5W5 WIF1_HUMAN WNT inhibitory factor 1 201 EGF-like 1. multicellular organismal development|Wnt receptor signaling pathway extracellular region protein tyrosine kinase activity cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 21 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0231) GAACCCATCAGGACACTCGCA 0.522000 T HMGA2 pleomorphic salivary gland adenoma 11 28 0 0 0.016723 0 0 MEGF8 1954 broad.mit.edu 37 19 42880268 42880268 + Missense_Mutation SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr19:42880268G>A ENST00000334370.4 + 41 8313 c.7678G>A c.(7678-7680)Gcc>Acc p.A2560T MEGF8_ENST00000378073.4_Missense_Mutation_p.A221T|MEGF8_ENST00000251268.6_Missense_Mutation_p.A2627T NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 2627 Pro-rich. integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) TGGGCCCGGCGCCAACGGCTC 0.627000 11 21 0 0 0.008291 0 0 PCDHA6 56142 broad.mit.edu 37 5 140209955 140209955 + Missense_Mutation SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr5:140209955C>T ENST00000529310.1 + 1 2393 c.2279C>T c.(2278-2280)tCc>tTc p.S760F PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGGTGTGCTCCGGGGAGGGC 0.612000 23 33 0 0 0.016522 0 0 BASP1 10409 broad.mit.edu 37 5 17275459 17275459 + Missense_Mutation SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr5:17275459C>T ENST00000322611.3 + 2 394 c.134C>T c.(133-135)gCc>gTc p.A45V NM_001271606.1|NM_006317.3 NP_001258535.1|NP_006308.3 P80723 BASP1_HUMAN brain abundant, membrane attached signal protein 1 45 A -> P (in Ref. 1; AAC67374). glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding endometrium(1)|lung(8) 9 CCCCAGGCGGCCGCAGAGCCC 0.677000 4 6 0 0 0.009096 0 0 TAAR5 9038 broad.mit.edu 37 6 132910108 132910108 + Silent SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr6:132910108G>A ENST00000258034.2 - 1 769 c.718C>T c.(718-720)Ctg>Ttg p.L240L NM_003967.2 NP_003958.2 O14804 TAAR5_HUMAN trace amine associated receptor 5 240 synaptic transmission integral to plasma membrane G-protein coupled receptor activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 32 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015) GCCCCAGCCAGGCTTTTGCTC 0.502000 26 12 0 0 0.024334 0 0 SLC9C2 284525 broad.mit.edu 37 1 173552686 173552686 + Missense_Mutation SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr1:173552686C>T ENST00000367714.3 - 6 1021 c.599G>A c.(598-600)gGa>gAa p.G200E SLC9C2_ENST00000536496.1_Missense_Mutation_p.G98E|RP3-436N22.3_ENST00000431459.1_RNA NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 200 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity CCGAAAATTTCCAAAAAAAAT 0.279000 27 33 0 0 0.021523 0 0 LAYN 143903 broad.mit.edu 37 11 111426015 111426015 + Splice_Site SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr11:111426015G>A ENST00000436913.2 + 4 624 c.223_splice c.e4+1 p.E75_splice LAYN_ENST00000528924.1_3'UTR|LAYN_ENST00000533265.1_Splice_Site_p.E220_splice|LAYN_ENST00000525126.1_Splice_Site_p.E228_splice|LAYN_ENST00000375614.2_Splice_Site_p.E220_splice|LAYN_ENST00000375615.3_Splice_Site_p.E228_splice NM_001258391.1 NP_001245320.1 Q6UX15 LAYN_HUMAN layilin 228 C-type lectin. cell surface|integral to membrane|ruffle hyaluronic acid binding|sugar binding breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1) 14 all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086) Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476) AGAAAGTAGAGGTATCTACAA 0.413000 8 19 0 0 0.004482 0 0 PTPRC 5788 broad.mit.edu 37 1 198682180 198682180 + Missense_Mutation SNP C C T rs142046206 TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr1:198682180C>T ENST00000367376.2 + 12 1435 c.1264C>T c.(1264-1266)Ctc>Ttc p.L422F PTPRC_ENST00000348564.6_Missense_Mutation_p.L263F|PTPRC_ENST00000594404.1_Missense_Mutation_p.L261F|PTPRC_ENST00000352140.3_Missense_Mutation_p.L374F|PTPRC_ENST00000442510.2_Missense_Mutation_p.L424F NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 422 Fibronectin type-III 1. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 TAATTTTACCCTCTGTTATAT 0.333000 19 63 0 0 0.012319 0 0 COL5A1 1289 broad.mit.edu 37 9 137622145 137622145 + Missense_Mutation SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr9:137622145G>A ENST00000371817.3 + 7 1402 c.988G>A c.(988-990)Gaa>Aaa p.E330K NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 330 Nonhelical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GGCTGGGAAGGAAGAGGACGT 0.617000 39 18 0 0 0.023175 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 6 53 0 0 0.001984 0 0 PCDHA1 56147 broad.mit.edu 37 5 140166149 140166149 + Missense_Mutation SNP C C A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr5:140166149C>A ENST00000504120.2 + 1 274 c.274C>A c.(274-276)Cgc>Agc p.R92S PCDHA1_ENST00000394633.3_Missense_Mutation_p.R92S|PCDHA1_ENST00000378133.3_Missense_Mutation_p.R92S NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCGGATCGATCGCGAGGAGCT 0.567000 57 63 3.76628e-20 5.59427e-20 0.014410 1 0 BMP2K 55589 broad.mit.edu 37 4 79768397 79768397 + Missense_Mutation SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr4:79768397C>T ENST00000335016.5 + 6 890 c.724C>T c.(724-726)Ccc>Tcc p.P242S BMP2K_ENST00000502871.1_Missense_Mutation_p.P242S NM_198892.1 NP_942595.1 Q9NSY1 BMP2K_HUMAN BMP2 inducible kinase 242 Protein kinase. nucleus ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 13 TGGAGGGAAACCCATCACCAC 0.378000 21 12 0 0 0.018920 0 0 RNF217-AS1 7955 broad.mit.edu 37 6 125233728 125233728 + RNA SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr6:125233728C>T ENST00000439075.1 - 0 1017 NR_026876.1 tcacgatattcccccaggtct 0.428000 2 0 0 0 0.004672 0 0 CSNK1D 1453 broad.mit.edu 37 17 80213335 80213335 + Silent SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr17:80213335G>A ENST00000314028.6 - 3 655 c.306C>T c.(304-306)ctC>ctT p.L102L CSNK1D_ENST00000398519.5_Silent_p.L102L|CSNK1D_ENST00000392334.2_Silent_p.L102L|CSNK1D_ENST00000578904.1_5'UTR NM_001893.4 NP_001884.2 P48730 KC1D_HUMAN casein kinase 1, delta 102 Protein kinase. circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway centrosome|cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|large_intestine(2)|lung(7) 11 Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155) GGACGGTTTTGAGGCTGAATT 0.542000 36 78 0 0 0.023175 0 0 LPPR1 54886 broad.mit.edu 37 9 104071546 104071546 + Missense_Mutation SNP G G C TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr9:104071546G>C ENST00000374874.3 + 5 878 c.439G>C c.(439-441)Gtg>Ctg p.V147L LPPR1_ENST00000395056.2_Missense_Mutation_p.V147L NM_207299.1 NP_997182.1 Q8TBJ4 LPPR1_HUMAN 147 integral to membrane catalytic activity CGCCGGACAAGTGGTCACTGG 0.428000 34 14 0 0 0.015359 0 0 FAM131A 131408 broad.mit.edu 37 3 184059668 184059668 + Missense_Mutation SNP T T G TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr3:184059668T>G ENST00000310585.4 + 1 1411 c.47T>G c.(46-48)tTt>tGt p.F16C FAM131A_ENST00000383847.2_Intron|FAM131A_ENST00000453072.1_Intron|FAM131A_ENST00000418281.1_Intron|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000340957.5_Intron|FAM131A_ENST00000450976.1_Intron Q6UXB0 F131A_HUMAN family with sequence similarity 131, member A 16 extracellular region breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1) 14 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GCACATCCCTTTGGAACTGTT 0.562000 75 106 0 0 0.014410 0 0 ABLIM3 22885 broad.mit.edu 37 5 148619383 148619383 + Missense_Mutation SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr5:148619383C>T ENST00000506113.1 + 12 1618 c.1136C>T c.(1135-1137)tCc>tTc p.S379F AC012613.2_ENST00000523176.1_RNA|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000356541.3_Missense_Mutation_p.S317F|ABLIM3_ENST00000309868.7_Missense_Mutation_p.S379F|ABLIM3_ENST00000508983.1_Missense_Mutation_p.S379F|ABLIM3_ENST00000504238.1_Missense_Mutation_p.S317F|ABLIM3_ENST00000326685.7_Missense_Mutation_p.S317F|ABLIM3_ENST00000519549.1_3'UTR|RP11-331K21.1_ENST00000512647.2_RNA O94929 ABLM3_HUMAN actin binding LIM protein family, member 3 379 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) TACATAGACTCCCCCACCTAC 0.627000 36 56 0 0 0.021022 0 0 HEXIM2 124790 broad.mit.edu 37 17 43246477 43246477 + Silent SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr17:43246477G>A ENST00000307275.3 + 4 598 c.162G>A c.(160-162)gaG>gaA p.E54E RP13-890H12.2_ENST00000589796.1_RNA|HEXIM2_ENST00000592695.1_Silent_p.E54E|HEXIM2_ENST00000591576.1_Silent_p.E54E NM_144608.1 NP_653209.1 Q96MH2 HEXI2_HUMAN hexamethylene bis-acetamide inducible 2 54 negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding endometrium(1)|large_intestine(3)|lung(1) 5 GCCACTCAGAGGATGAAGATC 0.662000 65 104 0 0 0.014410 0 0 CYP2C9 1559 broad.mit.edu 37 10 96707648 96707648 + Missense_Mutation SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr10:96707648G>A ENST00000260682.6 + 4 606 c.594G>A c.(592-594)atG>atA p.M198I NM_000771.3 NP_000762.2 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 9 198 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) TTAACTTAATGGAAAAGTTGA 0.378000 36 38 0 0 0.015359 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90161926 90161926 + RNA SNP T T C rs8061283 by1000genomes TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr16:90161926T>C ENST00000564451.1 + 0 1279 TUBB8P7_ENST00000567960.1_RNA p.I221T(3) CCCACACCCATCTATGGTGAC 0.527000 3 28 0 0 0.004672 0 0 TRERF1 55809 broad.mit.edu 37 6 42235936 42235936 + Missense_Mutation SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr6:42235936C>T ENST00000541110.1 - 5 1961 c.1393G>A c.(1393-1395)Ggg>Agg p.G465R TRERF1_ENST00000372917.4_Missense_Mutation_p.G465R|TRERF1_ENST00000372922.4_Missense_Mutation_p.G465R|TRERF1_ENST00000340840.2_Missense_Mutation_p.G465R|TRERF1_ENST00000354325.2_Missense_Mutation_p.G465R Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 465 Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) TGCTGAGGCCCCATGTTGTTG 0.602000 28 82 0 0 0.009535 0 0 CR2 1380 broad.mit.edu 37 1 207640026 207640026 + Missense_Mutation SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr1:207640026G>A ENST00000367057.3 + 2 403 c.214G>A c.(214-216)Gat>Aat p.D72N CR2_ENST00000367059.3_Missense_Mutation_p.D72N|CR2_ENST00000458541.2_Missense_Mutation_p.D72N|CR2_ENST00000367058.3_Missense_Mutation_p.D72N NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 72 Sushi 1. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 AGACAAAGTGGATGGAACCTG 0.413000 23 49 0 0 0.018920 0 0 XKR4 114786 broad.mit.edu 37 8 56270377 56270377 + Missense_Mutation SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr8:56270377C>T ENST00000327381.5 + 2 1046 c.946C>T c.(946-948)Cca>Tca p.P316S NM_052898.1 NP_443130.1 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related family, member 4 316 integral to membrane NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 Epithelial(17;0.000117)|all cancers(17;0.000836) GGAAAGTGCTCCACAGCTGGT 0.468000 15 28 0 0 0.024245 0 0 GLRB 2743 broad.mit.edu 37 4 158057765 158057765 + Missense_Mutation SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr4:158057765G>A ENST00000264428.4 + 5 712 c.442G>A c.(442-444)Gaa>Aaa p.E148K GLRB_ENST00000509282.1_Missense_Mutation_p.E148K|GLRB_ENST00000541722.1_Missense_Mutation_p.E148K|GLRB_ENST00000512619.1_Intron NM_000824.4 NP_000815.1 P48167 GLRB_HUMAN glycine receptor, beta 148 nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1) 27 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) TTTTGCAAATGAAAAAAGTGC 0.393000 48 75 0 0 0.014410 0 0 C4orf40 401137 broad.mit.edu 37 4 71024045 71024045 + Splice_Site SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr4:71024045G>A ENST00000344526.5 + 3 265 c.75_splice c.e3-1 p.D26_splice C4orf40_ENST00000502441.2_Intron|C4orf40_ENST00000502294.1_Splice_Site_p.D26_splice NM_214711.3 NP_999876.2 Q6MZM9 CD040_HUMAN chromosome 4 open reading frame 40 26 extracellular region breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 TCTCCTTTAGGATGACAATGA 0.358000 37 83 0 0 0.019004 0 0 DNAH5 1767 broad.mit.edu 37 5 13885323 13885323 + Missense_Mutation SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr5:13885323C>T ENST00000265104.4 - 19 2862 c.2758G>A c.(2758-2760)Gga>Aga p.G920R CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 920 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TCAAAATTTCCTTCTTCTCTT 0.383000 Kartagener syndrome 11 30 0 0 0.010729 0 0 DEF8 54849 broad.mit.edu 37 16 90025426 90025426 + Missense_Mutation SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr16:90025426C>T ENST00000563594.1 + 6 1374 c.377C>T c.(376-378)cCc>cTc p.P126L DEF8_ENST00000563795.1_Missense_Mutation_p.P126L|DEF8_ENST00000563848.1_3'UTR|DEF8_ENST00000418391.2_Missense_Mutation_p.P126L|DEF8_ENST00000569453.1_Missense_Mutation_p.P126L|DEF8_ENST00000567874.1_Missense_Mutation_p.P66L|DEF8_ENST00000570182.1_Missense_Mutation_p.P116L|DEF8_ENST00000268676.7_Missense_Mutation_p.P187L NM_001242818.1|NM_001242819.1 NP_001229747.1|NP_001229748.1 Q6ZN54 DEFI8_HUMAN differentially expressed in FDCP 8 homolog (mouse) 187 intracellular signal transduction zinc ion binding central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 12 all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0274) CTGCAGGACCCCAATGAGGAT 0.542000 28 89 0 0 0.008361 0 0 EPHX1 2052 broad.mit.edu 37 1 226019497 226019497 + Silent SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr1:226019497C>T ENST00000366837.4 + 3 397 c.201C>T c.(199-201)atC>atT p.I67I EPHX1_ENST00000272167.5_Silent_p.I67I|EPHX1_ENST00000467015.1_3'UTR NM_000120.3 NP_000111.1 P07099 HYEP_HUMAN epoxide hydrolase 1, microsomal (xenobiotic) 67 aromatic compound catabolic process|response to toxin endoplasmic reticulum membrane|integral to membrane|microsome cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 28 Breast(184;0.197) ACCAGAGGATCGATAAGTTCC 0.488000 27 42 0 0 0.006320 0 0 KSR2 283455 broad.mit.edu 37 12 118199251 118199251 + Missense_Mutation SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr12:118199251G>A ENST00000425217.1 - 4 518 c.464C>T c.(463-465)cCc>cTc p.P155L KSR2_ENST00000339824.5_Missense_Mutation_p.P184L NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 184 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGGCTCCGGGGGGCACACGGG 0.627000 34 49 0 0 0.015359 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137497 40137497 + Missense_Mutation SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr11:40137497C>T ENST00000278198.2 - 2 2309 c.346G>A c.(346-348)Gaa>Aaa p.E116K LRRC4C_ENST00000530763.1_Missense_Mutation_p.E116K|LRRC4C_ENST00000528697.1_Missense_Mutation_p.E116K|LRRC4C_ENST00000527150.1_Missense_Mutation_p.E116K Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 116 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) GCCCCAATTTCAATGGTTCTG 0.428000 23 33 0 0 0.012319 0 0 PER1 5187 broad.mit.edu 37 17 8053945 8053945 + Missense_Mutation SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr17:8053945G>A ENST00000317276.4 - 2 317 c.80C>T c.(79-81)tCc>tTc p.S27F PER1_ENST00000354903.5_Intron|PER1_ENST00000581082.1_Missense_Mutation_p.S27F NM_002616.2 NP_002607.2 O15534 PER1_HUMAN period circadian clock 1 27 circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 GGGCCCAGGGGATGGGACGCC 0.647000 T ETV6 """AML, CMML""" Other conserved DNA damage response genes 46 44 0 0 0.011902 0 0 RIMBP2 23504 broad.mit.edu 37 12 130926629 130926629 + Missense_Mutation SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr12:130926629G>A ENST00000261655.4 - 8 1380 c.1217C>T c.(1216-1218)tCc>tTc p.S406F RIMBP2_ENST00000535703.1_Missense_Mutation_p.S314F|RIMBP2_ENST00000536002.1_Missense_Mutation_p.S314F NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 406 Fibronectin type-III 2. cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) GAGCTGGGCGGAGATCTGCGT 0.622000 21 24 0 0 0.010504 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 3 54 0 0 0.004672 0 0 TAAR5 9038 broad.mit.edu 37 6 132910109 132910109 + Silent SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr6:132910109G>A ENST00000258034.2 - 1 768 c.717C>T c.(715-717)agC>agT p.S239S NM_003967.2 NP_003958.2 O14804 TAAR5_HUMAN trace amine associated receptor 5 239 synaptic transmission integral to plasma membrane G-protein coupled receptor activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 32 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015) CCCCAGCCAGGCTTTTGCTCA 0.507000 26 12 0 0 0.024334 0 0 CYP4A22 284541 broad.mit.edu 37 1 47611598 47611601 + Splice_Site DEL TAGA TAGA - rs2405599 byFrequency TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr1:47611598_47611601delTAGA ENST00000371891.3 + 10 1314_1317 c.1287_splice c.e10+1 p.LE428_splice CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000294337.3_Splice_Site_p.LE428_splice|CYP4A22_ENST00000371890.3_Splice_Site_p.LE330_splice|CYP4A22-AS1_ENST00000444042.2_lincRNA NM_001010969.2 NP_001010969.2 Q5TCH4 CP4AM_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 22 428 L -> P (in allele CYP4A22*6, allele CYP4A22*9, allele CYP4A22*10, allele CYP4A22*12, allele CYP4A22*13 and allele CYP4A22*15; dbSNP:rs2405599). endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TGGCCCAACCTAGAGGTATGTGGT 0.510 105 209 --- --- --- --- KRTCAP2 200185 broad.mit.edu 37 1 155145290 155145291 + Frame_Shift_Ins INS - - G TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr1:155145290_155145291insG ENST00000295682.4 - 2 190_191 c.160_161insC c.(160-162)tcafs p.S54fs KRTCAP2_ENST00000490672.1_5'UTR NM_173852.3 NP_776251.1 Q8N6L1 KTAP2_HUMAN keratinocyte associated protein 2 54 integral to membrane endometrium(2)|large_intestine(1)|lung(1) 4 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;3.18e-10)|all cancers(21;8.39e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GGCCAGCTGACGGCTGTACATC 0.639 32 27 --- --- --- --- SFRP2 6423 broad.mit.edu 37 4 154709955 154709956 + In_Frame_Ins INS - - AGC TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr4:154709955_154709956insAGC ENST00000274063.4 - 1 316_317 c.32_33insGCT c.(31-33)ctt>cGCTtt p.11_11L>RF NM_003013.2 NP_003004.1 Q96HF1 SFRP2_HUMAN secreted frizzled-related protein 2 11 brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development cytoplasm|extracellular matrix|extracellular space|plasma membrane fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 16 all_hematologic(180;0.093) Renal(120;0.117) AGGCGAGGAAGAGCAGCAGCAG 0.708 8 20 --- --- --- --- INTS4P2 644619 broad.mit.edu 37 7 65150817 65150817 + RNA DEL C C - TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr7:65150817delC ENST00000430126.2 + 0 757 TCATCCCTCACCCCCCCCCCC 0.468 3 6 --- --- --- --- PSCA 8000 broad.mit.edu 37 8 143762824 143762824 + Frame_Shift_Del DEL G G - TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr8:143762824delG ENST00000301258.4 + 2 188 c.105delG c.(103-105)ctfs p.L35fs PSCA_ENST00000505305.1_3'UTR|PSCA_ENST00000513264.1_Frame_Shift_Del_p.L35fs NM_005672.4 NP_005663.2 D3DWI6 D3DWI6_HUMAN prostate stem cell antigen 35 endometrium(1)|large_intestine(1) 2 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) GCACCCAGCTGGGGGAGCAGT 0.632 13 8 --- --- --- --- HRCT1 646962 broad.mit.edu 37 9 35906595 35906596 + In_Frame_Ins INS - - CCC rs58509439 TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr9:35906595_35906596insCCC ENST00000354323.2 + 1 407_408 c.311_312insCCC c.(310-312)cca>cCCCca p.104_104P>PP NM_001039792.1 NP_001034881.1 Q6UXD1 HRCT1_HUMAN histidine rich carboxyl terminus 1 104 His-rich. integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1) 4 caccaccaccaccacccccacc 0.673 9 23 --- --- --- --- RSPH6A 81492 broad.mit.edu 37 19 46299147 46299149 + In_Frame_Del DEL CCT CCT - TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ede8a2a-405e-4689-967b-627bff0f1496 781d7787-9f92-4774-ac27-6c679bbd3387 g.chr19:46299147_46299149delCCT ENST00000221538.3 - 6 2274_2276 c.2132_2134delAGG c.(2131-2136)ggc>g p.EG711del RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG447del NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 711 Glu-rich. intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 GTctcctcgccctcctcctcctc 0.557 9 151 --- --- --- ---