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 ZNF215 7762 broad.mit.edu 37 11 6953513 6953513 + Missense_Mutation SNP C C A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr11:6953513C>A ENST00000278319.5 + 3 598 c.10C>A c.(10-12)Ctg>Atg p.L4M ZNF215_ENST00000527171.1_3'UTR|ZNF215_ENST00000529903.1_Missense_Mutation_p.L4M|ZNF215_ENST00000414517.2_Missense_Mutation_p.L4M NM_013250.2 NP_037382.2 Q9UL58 ZN215_HUMAN zinc finger protein 215 4 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4) 32 Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134) GATGCAGCCTCTGAGCAAGTT 0.453000 15 37 2.94398e-08 9.01037e-08 0.007413 1 0 GRB7 2886 broad.mit.edu 37 17 37898848 37898848 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr17:37898848C>T ENST00000309156.4 + 3 442 c.185C>T c.(184-186)aCc>aTc p.T62I GRB7_ENST00000445327.2_Missense_Mutation_p.T85I|GRB7_ENST00000578702.1_3'UTR|GRB7_ENST00000394204.1_Missense_Mutation_p.T62I|GRB7_ENST00000309185.3_Missense_Mutation_p.T62I|GRB7_ENST00000394209.2_Missense_Mutation_p.T62I|GRB7_ENST00000394211.3_Missense_Mutation_p.T62I NM_005310.3 NP_005301.2 Q14451 GRB7_HUMAN growth factor receptor-bound protein 7 62 blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly cytosol|focal adhesion|stress granule phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) AGGCGTGCCACCTCCCTCCCC 0.612000 19 66 0 0 0.001882 0 0 B3GALNT2 148789 broad.mit.edu 37 1 235622058 235622058 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr1:235622058G>A ENST00000366600.3 - 8 1106 c.878C>T c.(877-879)cCt>cTt p.P293L NM_152490.2 NP_689703.1 Q8NCR0 B3GL2_HUMAN beta-1,3-N-acetylgalactosaminyltransferase 2 293 protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity p.P293L(1) NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 18 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.0539)|Prostate(94;0.0353) OV - Ovarian serous cystadenocarcinoma(106;0.000117) AAGTCTTTGAGGGCGAGAATG 0.383000 16 21 0 0 0.004007 0 0 DYNC1LI2 1783 broad.mit.edu 37 16 66770095 66770095 + Silent SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr16:66770095G>A ENST00000258198.2 - 5 788 c.582C>T c.(580-582)tcC>tcT p.S194S DYNC1LI2_ENST00000379482.2_Intron|DYNC1LI2_ENST00000443351.2_Silent_p.S117S|DYNC1LI2_ENST00000440564.2_Silent_p.S155S NM_006141.2 NP_006132.1 O43237 DC1L2_HUMAN dynein, cytoplasmic 1, light intermediate chain 2 194 transport centrosome|cytoplasmic dynein complex|microtubule ATP binding|motor activity central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1) 15 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212) TTCTCTGTGGGGAACCTTGAC 0.453000 16 34 0 0 0.003163 0 0 GLIS1 148979 broad.mit.edu 37 1 53995556 53995556 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr1:53995556C>T ENST00000312233.2 - 4 1431 c.865G>A c.(865-867)Gag>Aag p.E289K NM_147193.2 NP_671726.2 Q8NBF1 GLIS1_HUMAN GLIS family zinc finger 1 289 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding p.E289Q(1)|p.E289K(1) endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4) 24 TACGGCTTCTCGCCCGTGTGG 0.637000 6 25 0 0 0.001984 0 0 CSPP1 79848 broad.mit.edu 37 8 68007696 68007696 + Nonsense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr8:68007696C>T ENST00000262210.5 + 6 710 c.679C>T c.(679-681)Cga>Tga p.R227* CSPP1_ENST00000412460.1_5'UTR NM_024790.6 NP_079066.5 Q1MSJ5 CSPP1_HUMAN centrosome and spindle pole associated protein 1 262 centrosome|microtubule|spindle NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1) 49 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) GGACAGATACCGACAACTAGA 0.368000 20 33 0 0 0.001523 0 0 RIMBP3 85376 broad.mit.edu 37 22 20458668 20458668 + Silent SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr22:20458668C>T ENST00000426804.1 - 1 3118 c.2634G>A c.(2632-2634)gaG>gaA p.E878E NM_015672.1 NP_056487.1 RIMS binding protein 3 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 13 Colorectal(54;0.0993)|Melanoma(16;0.165) LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224) CAAGCTCCCCCTCATAGAAGC 0.597000 4 11 0 0 0.000602 0 0 FYN 2534 broad.mit.edu 37 6 112017612 112017612 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr6:112017612C>T ENST00000354650.3 - 10 1516 c.910G>A c.(910-912)Ggc>Agc p.G304S FYN_ENST00000538466.1_Missense_Mutation_p.G301S|FYN_ENST00000368678.4_Missense_Mutation_p.G301S|FYN_ENST00000368667.2_Missense_Mutation_p.G304S|FYN_ENST00000368682.3_Missense_Mutation_p.G301S|FYN_ENST00000356013.2_Missense_Mutation_p.G249S|FYN_ENST00000476769.2_5'UTR|FYN_ENST00000229470.5_Missense_Mutation_p.G252S|FYN_ENST00000229471.4_Missense_Mutation_p.G249S NM_002037.5 NP_002028.1 P06241 FYN_HUMAN FYN oncogene related to SRC, FGR, YES 304 Protein kinase. axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|endosome|plasma membrane ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 30 all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211) all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102) Dasatinib(DB01254) GACATTGTGCCTGGTTTAAGA 0.453000 12 13 0 0 0.002450 0 0 NIPAL1 152519 broad.mit.edu 37 4 48027085 48027085 + Splice_Site SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr4:48027085G>A ENST00000295461.5 + 2 113 c.46_splice c.e2-1 p.G16_splice NIPAL1_ENST00000508180.1_3'UTR NM_207330.1 NP_997213.1 Q6NVV3 NIPA3_HUMAN NIPA-like domain containing 1 16 integral to membrane endometrium(2)|large_intestine(1)|lung(3)|skin(2) 8 TTTTTTCCAGGATATGTGCTG 0.488000 28 54 0 0 0.007291 0 0 HERC2P2 400322 broad.mit.edu 37 15 23283320 23283320 + RNA SNP C C A rs149049629 by1000genomes TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr15:23283320C>A ENST00000560464.1 - 0 5097 CAGCGTGTGCCTTTTCCTTCC 0.453000 6 27 2.0095e-06 6.11937e-06 0.001984 1 0 CHD7 55636 broad.mit.edu 37 8 61732609 61732609 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr8:61732609G>A ENST00000423902.2 + 9 3136 c.2657G>A c.(2656-2658)cGg>cAg p.R886Q CHD7_ENST00000525508.1_Missense_Mutation_p.R886Q|CHD7_ENST00000524602.1_Intron NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 886 Chromo 2. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) GAGGTTGACCGGATAATGGAC 0.383000 4 12 0 0 0.001984 0 0 DEFB118 117285 broad.mit.edu 37 20 29960671 29960671 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr20:29960671G>A ENST00000253381.2 + 2 103 c.70G>A c.(70-72)Gaa>Aaa p.E24K NM_054112.2 NP_473453.1 Q96PH6 DB118_HUMAN defensin, beta 118 24 cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis extracellular region breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1) 14 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) CTATAGTGGTGAAAAAAAATG 0.398000 10 7 0 0 0.006214 0 0 OR5J2 282775 broad.mit.edu 37 11 55944548 55944548 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr11:55944548G>A ENST00000312298.1 + 1 455 c.455G>A c.(454-456)gGa>gAa p.G152E NM_001005492.1 NP_001005492.1 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, member 2 152 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 44 Esophageal squamous(21;0.00693) TGGATAGGTGGAATAGTTAAC 0.453000 29 21 0 0 0.006320 0 0 TM4SF20 79853 broad.mit.edu 37 2 228228518 228228518 + Silent SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr2:228228518C>T ENST00000304568.3 - 4 649 c.612G>A c.(610-612)ctG>ctA p.L204L NM_024795.3 NP_079071.2 Q53R12 T4S20_HUMAN transmembrane 4 L six family member 20 204 integral to membrane|plasma membrane breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2) 10 Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248) Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115) TGAGCCCAAACAGGACCTCCA 0.403000 25 44 0 0 0.005443 0 0 DUXA 503835 broad.mit.edu 37 19 57666694 57666694 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr19:57666694C>T ENST00000554048.2 - 5 484 c.485G>A c.(484-486)aGg>aAg p.R162K NM_001012729.1 NP_001012747.1 A6NLW8 DUXA_HUMAN double homeobox A 162 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 17 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123) CACAGGTTCCCTTTTTCTCTG 0.413000 7 42 0 0 0.001984 0 0 NEBL 10529 broad.mit.edu 37 10 21076194 21076194 + Silent SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr10:21076194G>A ENST00000377122.4 - 27 3201 c.2805C>T c.(2803-2805)ggC>ggT p.G935G NEBL_ENST00000377159.4_Silent_p.G157G|NEBL_ENST00000417816.2_Silent_p.G191G NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 935 Linker. regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 TGTAGCCATAGCCTTGGGAAT 0.458000 10 18 0 0 0.000978 0 0 FTSJ2 29960 broad.mit.edu 37 7 2279183 2279183 + Silent SNP G G A rs145102163 by1000genomes TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr7:2279183G>A ENST00000440306.2 - 2 203 c.168C>T c.(166-168)agC>agT p.S56S FTSJ2_ENST00000486040.1_5'UTR|FTSJ2_ENST00000242257.8_Silent_p.S56S Q9UI43 RRMJ2_HUMAN FtsJ RNA methyltransferase homolog 2 (E. coli) 56 cell proliferation mitochondrion|nucleolus nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14) GCTTGAAGGCGCTTCGACACC 0.622000 23 34 0 0 0.003954 0 0 BMX 660 broad.mit.edu 37 X 15560224 15560224 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chrX:15560224G>A ENST00000357607.2 + 15 1702 c.1514G>A c.(1513-1515)gGa>gAa p.G505E BMX_ENST00000348343.6_Missense_Mutation_p.G505E|BMX_ENST00000342014.6_Missense_Mutation_p.G505E P51813 BMX_HUMAN BMX non-receptor tyrosine kinase 505 Protein kinase. cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3) 30 Hepatocellular(33;0.183) AGGAGTCACGGAAAAGGACTT 0.438000 98 127 0 0 0.003610 0 0 MALAT1 378938 broad.mit.edu 37 11 65272211 65272211 + RNA SNP A A G TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr11:65272211A>G ENST00000534336.1 + 0 6979 NR_002819.2 GGAAATGTTTAAACAGTTCAG 0.398000 11 34 0 0 0.001855 0 0 MUC16 94025 broad.mit.edu 37 19 9060576 9060576 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr19:9060576G>A ENST00000397910.4 - 3 27073 c.26870C>T c.(26869-26871)cCa>cTa p.P8957L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8959 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGGGAGGCCTGGATAAGAGGA 0.468000 71 65 0 0 0.003610 0 0 ZNF790 388536 broad.mit.edu 37 19 37314681 37314681 + Silent SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr19:37314681G>A ENST00000356725.4 - 3 141 c.21C>T c.(19-21)ttC>ttT p.F7F CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA NM_001242802.1|NM_206894.3 NP_001229731.1|NP_996777.2 Q6PG37 ZN790_HUMAN zinc finger protein 790 7 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 32 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) CCACATCCCTGAACATCATCA 0.393000 12 26 0 0 0.000978 0 0 NBEAL2 23218 broad.mit.edu 37 3 47038258 47038258 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr3:47038258C>T ENST00000450053.3 + 17 2670 c.2491C>T c.(2491-2493)Ccc>Tcc p.P831S NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.P831S NM_015175.2 NP_055990.1 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 831 binding NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) TGAGACGGCACCCTTCAAGCC 0.632000 5 14 0 0 0.003080 0 0 OR4K1 79544 broad.mit.edu 37 14 20404452 20404452 + Silent SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr14:20404452C>T ENST00000285600.4 + 1 686 c.627C>T c.(625-627)agC>agT p.S209S NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 209 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) TATCATTGAGCTGTTTCCTGG 0.443000 15 52 0 0 0.004007 0 0 SEC14L1 6397 broad.mit.edu 37 17 75190974 75190974 + Silent SNP C C T rs138582657 TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr17:75190974C>T ENST00000413679.2 + 7 993 c.690C>T c.(688-690)ccC>ccT p.P230P SEC14L1_ENST00000443798.4_Silent_p.P230P|SEC14L1_ENST00000430767.4_Silent_p.P230P|SEC14L1_ENST00000436233.4_Silent_p.P230P|SEC14L1_ENST00000591437.1_Silent_p.P196P|SEC14L1_ENST00000585618.1_Silent_p.P230P|SEC14L1_ENST00000431431.2_Silent_p.P196P|SEC14L1_ENST00000392476.2_Silent_p.P230P NM_001143998.1|NM_001143999.1|NM_003003.3 NP_001137470.1|NP_001137471.1|NP_002994.3 Q92503 S14L1_HUMAN SEC14-like 1 (S. cerevisiae) 230 transport Golgi apparatus|integral to membrane binding NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2) 31 CACCTGAGCCCGTGGTGGGCA 0.632000 39 50 0 0 0.004878 0 0 ZBTB6 10773 broad.mit.edu 37 9 125673909 125673909 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr9:125673909G>A ENST00000373659.3 - 2 531 c.443C>T c.(442-444)cCt>cTt p.P148L NM_006626.5 NP_006617.1 Q15916 ZBTB6_HUMAN zinc finger and BTB domain containing 6 148 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1) 11 CTTAACATCAGGATCAGAAGA 0.338000 12 25 0 0 0.000978 0 0 NKG7 4818 broad.mit.edu 37 19 51875054 51875054 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr19:51875054G>A ENST00000221978.5 - 4 654 c.475C>T c.(475-477)Cgt>Tgt p.R159C NKG7_ENST00000595217.1_3'UTR|NKG7_ENST00000600427.1_Missense_Mutation_p.R79C NM_005601.3 NP_005592.1 Q16617 NKG7_HUMAN natural killer cell group 7 sequence 159 integral to plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 10 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) TAGCCAGGACGGGGACCGCCA 0.582000 28 116 0 0 0.002445 0 0 TMCO5A 145942 broad.mit.edu 37 15 38234396 38234396 + Missense_Mutation SNP A A G TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr15:38234396A>G ENST00000558158.1 + 9 663 c.509A>G c.(508-510)tAc>tGc p.Y170C TMCO5A_ENST00000540944.1_Missense_Mutation_p.Y170C|TMCO5A_ENST00000559502.1_Missense_Mutation_p.Y170C|TMCO5A_ENST00000319669.4_Missense_Mutation_p.Y170C Q8N6Q1 TMC5A_HUMAN transmembrane and coiled-coil domains 5A 170 integral to membrane central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2) 15 TTGAAGAAGTACCAGGAAACG 0.363000 28 101 0 0 0.001786 0 0 ZNF423 23090 broad.mit.edu 37 16 49669774 49669774 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr16:49669774C>T ENST00000561648.1 - 4 3342 c.3289G>A c.(3289-3291)Gcc>Acc p.A1097T ZNF423_ENST00000563137.2_Missense_Mutation_p.A1037T|ZNF423_ENST00000567169.1_Missense_Mutation_p.A980T|ZNF423_ENST00000562520.1_Missense_Mutation_p.A1037T|ZNF423_ENST00000562871.1_Missense_Mutation_p.A1037T|ZNF423_ENST00000262383.2_Missense_Mutation_p.A1097T|ZNF423_ENST00000535559.1_Missense_Mutation_p.A980T NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 1097 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) GCGCTGCGGGCCATGCAGCCG 0.687000 11 8 0 0 0.000978 0 0 KLF4 9314 broad.mit.edu 37 9 110249863 110249863 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr9:110249863G>A ENST00000374672.4 - 3 1285 c.812C>T c.(811-813)cCg>cTg p.P271L NM_004235.4 NP_004226.3 O43474 KLF4_HUMAN Kruppel-like factor 4 (gut) 271 Pro-rich. fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter nucleus RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2) 16 GCACGTGCGCGGCGGCCCGCC 0.701000 5 2 0 0 0.001168 0 0 HMG20A 10363 broad.mit.edu 37 15 77759465 77759465 + Missense_Mutation SNP A A G TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr15:77759465A>G ENST00000381714.3 + 5 694 c.266A>G c.(265-267)aAa>aGa p.K89R HMG20A_ENST00000336216.4_Missense_Mutation_p.K89R NM_018200.2 NP_060670.1 Q9NP66 HM20A_HUMAN high mobility group 20A 89 chromatin modification nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 GGTTGGTCCAAAGGAAGAAAG 0.413000 4 32 0 0 0.000248 0 0 RP1 6101 broad.mit.edu 37 8 55539965 55539965 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr8:55539965G>A ENST00000220676.1 + 4 3671 c.3523G>A c.(3523-3525)Gaa>Aaa p.E1175K NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1175 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TATCACAGAGGAAGCTGATGA 0.408000 18 20 0 0 0.006122 0 0 IL3RA 3563 broad.mit.edu 37 X 1460719 1460719 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chrX:1460719G>A ENST00000331035.4 + 2 410 c.61G>A c.(61-63)Gaa>Aaa p.E21K IL3RA_ENST00000381469.2_Missense_Mutation_p.E21K NM_001267713.1|NM_002183.3 NP_001254642.1|NP_002174.1 P26951 IL3RA_HUMAN interleukin 3 receptor, alpha (low affinity) 21 integral to membrane|plasma membrane interleukin-3 receptor activity lung(1)|skin(2) 3 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) GCAAACGAAGGAAGGTAAGAA 0.577000 65 77 0 0 0.003610 0 0 CNTN4 152330 broad.mit.edu 37 3 2924836 2924836 + Missense_Mutation SNP G G C TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr3:2924836G>C ENST00000397461.1 + 8 1044 c.660G>C c.(658-660)atG>atC p.M220I CNTN4_ENST00000358480.3_Start_Codon_SNP_p.M1I|CNTN4_ENST00000427331.1_Missense_Mutation_p.M220I|CNTN4_ENST00000418658.1_Missense_Mutation_p.M220I NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 220 axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) CAGGAGTGATGGGTGAATATG 0.373000 17 11 0 0 0.006122 0 0 PCDHA13 56136 broad.mit.edu 37 5 140262588 140262588 + Silent SNP C C A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr5:140262588C>A ENST00000289272.2 + 1 735 c.735C>A c.(733-735)tcC>tcA p.S245S PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.S245S|PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTTACCAATCCGTTTATAAAG 0.453000 6 38 0.00198382 0.00601097 0.001984 1 0 FBXL7 23194 broad.mit.edu 37 5 15936615 15936615 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr5:15936615C>T ENST00000504595.1 + 4 1277 c.796C>T c.(796-798)Ccc>Tcc p.P266S FBXL7_ENST00000510662.1_Missense_Mutation_p.P219S|FBXL7_ENST00000329673.7_Missense_Mutation_p.P254S NM_001278317.1|NM_012304.3 NP_001265246.1|NP_036436.1 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 266 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 TAAACTGTCACCCTTGCATGG 0.572000 13 31 0 0 0.001368 0 0 RRM1 6240 broad.mit.edu 37 11 4153577 4153577 + Silent SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr11:4153577C>T ENST00000300738.5 + 16 2035 c.1831C>T c.(1831-1833)Ctg>Ttg p.L611L RRM1_ENST00000423050.2_Silent_p.L514L|RRM1_ENST00000534285.1_Silent_p.L389L|RRM1_ENST00000537197.1_Silent_p.L273L NM_001033.3 NP_001024.1 P23921 RIR1_HUMAN ribonucleotide reductase M1 611 deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex ATP binding|ribonucleoside-diphosphate reductase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2) 14 Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205) Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005) TGCTCAGATCCTGGGGAATAA 0.438000 10 38 0 0 0.006214 0 0 CYP4A22 284541 broad.mit.edu 37 1 47610246 47610246 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr1:47610246G>A ENST00000371891.3 + 8 953 c.922G>A c.(922-924)Gac>Aac p.D308N CYP4A22_ENST00000371890.3_Intron|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000485117.1_Intron|CYP4A22_ENST00000294337.3_Missense_Mutation_p.D308N NM_001010969.2 NP_001010969.2 Q5TCH4 CP4AM_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 22 308 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 CATCTTGTCAGACAAGGACCT 0.557000 35 72 0 0 0.002222 0 0 DAB2 1601 broad.mit.edu 37 5 39383123 39383123 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr5:39383123G>A ENST00000320816.6 - 10 1405 c.938C>T c.(937-939)tCt>tTt p.S313F DAB2_ENST00000509337.1_Missense_Mutation_p.S292F|DAB2_ENST00000545653.1_Missense_Mutation_p.S292F|DAB2_ENST00000339788.6_Intron NM_001343.3 NP_001334.2 P98082 DAB2_HUMAN Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila) 313 cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway clathrin coated vesicle membrane|coated pit protein C-terminus binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 47 all_lung(31;0.000197) Epithelial(62;0.137) AGATTTGAGAGAATCAAACGA 0.463000 28 95 0 0 0.008361 0 0 IL31RA 133396 broad.mit.edu 37 5 55206402 55206402 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr5:55206402C>T ENST00000396834.1 + 14 1983 c.1487C>T c.(1486-1488)tCc>tTc p.S496F IL31RA_ENST00000447346.2_Missense_Mutation_p.S515F|IL31RA_ENST00000490985.1_Missense_Mutation_p.S373F|IL31RA_ENST00000354961.4_Missense_Mutation_p.S496F|IL31RA_ENST00000359040.5_Missense_Mutation_p.S515F NM_001242638.1 NP_001229567.1 Q8NI17 IL31R_HUMAN interleukin 31 receptor A 483 Fibronectin type-III 5. anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|plasma membrane cytokine receptor activity|protein kinase binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1) 21 Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223) GGCCTGGAGTCCCTGAAACGA 0.468000 28 24 0 0 0.008361 0 0 MAP3K2 10746 broad.mit.edu 37 2 128083323 128083323 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr2:128083323G>A ENST00000409947.1 - 9 940 c.658C>T c.(658-660)Ctt>Ttt p.L220F MAP3K2_ENST00000344908.5_Missense_Mutation_p.L220F Q9Y2U5 M3K2_HUMAN mitogen-activated protein kinase kinase kinase 2 220 activation of JUN kinase activity|cellular response to mechanical stimulus nucleus ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2) 7 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0706) GGACTATCAAGTGATGGACAA 0.408000 23 56 0 0 0.003330 0 0 CFAP221 200373 broad.mit.edu 37 2 120369228 120369228 + Splice_Site SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr2:120369228G>A ENST00000602047.1 + 14 1475 c.e14-1 PCDP1_ENST00000597189.1_Splice_Site|PCDP1_ENST00000413369.3_Splice_Site Q4G0U5 PCDP1_HUMAN cilium calmodulin binding Colorectal(110;0.196) TAAAAACCCAGCTAGACAGAG 0.348000 9 28 0 0 0.008291 0 0 IFLTD1 160492 broad.mit.edu 37 12 25679043 25679043 + Missense_Mutation SNP G G C rs145152190 by1000genomes TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr12:25679043G>C ENST00000539744.1 - 6 913 c.434C>G c.(433-435)cCg>cGg p.P145R IFLTD1_ENST00000458174.2_Missense_Mutation_p.P263R|IFLTD1_ENST00000282881.6_Missense_Mutation_p.P242R|IFLTD1_ENST00000445693.1_Missense_Mutation_p.P179R|IFLTD1_ENST00000413632.2_Intron NM_001256266.1 NP_001243195.1 Q8N9Z9 ILFT1_HUMAN intermediate filament tail domain containing 1 242 intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847) TTGACCGTTCGGTTTGCACAG 0.328000 7 39 0 0 0.008291 0 0 LTA 4049 broad.mit.edu 37 6 31541257 31541257 + Silent SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr6:31541257C>T ENST00000454783.1 + 4 663 c.405C>T c.(403-405)gtC>gtT p.V135V LTA_ENST00000418386.2_Silent_p.V135V NM_001159740.2 NP_001153212.1 P01374 TNFB_HUMAN lymphotoxin alpha 135 cell-cell signaling|induction of apoptosis|signal transduction extracellular space|membrane cytokine activity|tumor necrosis factor receptor binding endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1) 9 Etanercept(DB00005) CCCATGAGGTCCAGCTCTTCT 0.592000 17 106 0 0 0.004990 0 0 GAB3 139716 broad.mit.edu 37 X 153944500 153944500 + Silent SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chrX:153944500C>T ENST00000369575.3 - 2 208 c.177G>A c.(175-177)gtG>gtA p.V59V GAB3_ENST00000424127.2_Silent_p.V59V|GAB3_ENST00000496390.1_5'UTR NM_001081573.1|NM_080612.2 NP_001075042.1|NP_542179.1 Q8WWW8 GAB3_HUMAN GRB2-associated binding protein 3 59 PH. NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1) 25 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TGAGGTCTATCACCCGGATGG 0.552000 36 30 0 0 0.006230 0 0 CDH17 1015 broad.mit.edu 37 8 95164197 95164197 + Missense_Mutation SNP T T G TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr8:95164197T>G ENST00000027335.3 - 13 1819 c.1695A>C c.(1693-1695)caA>caC p.Q565H CDH17_ENST00000441892.2_Missense_Mutation_p.Q351H|CDH17_ENST00000450165.2_Missense_Mutation_p.Q565H NM_004063.3 NP_004054.3 Q12864 CAD17_HUMAN cadherin 17, LI cadherin (liver-intestine) 565 Cadherin 5. integral to membrane calcium ion binding NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) GTTGGGAAAATTGAGGTGCTT 0.438000 4 33 0 0 0.000602 0 0 OR10A3 26496 broad.mit.edu 37 11 7961032 7961032 + Silent SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr11:7961032G>A ENST00000360759.3 - 1 109 c.36C>T c.(34-36)ttC>ttT p.F12F NM_001003745.1 NP_001003745.1 P58181 O10A3_HUMAN olfactory receptor, family 10, subfamily A, member 3 12 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2) 21 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CCAGGAGGATGAATTCAACCA 0.398000 5 29 0 0 0.001168 0 0 EVC2 132884 broad.mit.edu 37 4 5624458 5624458 + Silent SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr4:5624458G>A ENST00000310917.2 - 14 2798 c.2067C>T c.(2065-2067)ccC>ccT p.P689P EVC2_ENST00000344938.1_Silent_p.P769P|EVC2_ENST00000344408.5_Silent_p.P769P NM_001166136.1 NP_001159608.1 Q86UK5 LBN_HUMAN Ellis van Creveld syndrome 2 769 integral to membrane NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 81 GGAAGAGCCAGGGCACCCCAC 0.652000 17 22 0 0 0.004990 0 0 ZNF621 285268 broad.mit.edu 37 3 40571737 40571737 + Silent SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr3:40571737C>T ENST00000339296.5 + 4 641 c.189C>T c.(187-189)caC>caT p.H63H ZNF621_ENST00000490457.1_3'UTR|ZNF621_ENST00000431278.1_5'UTR|ZNF621_ENST00000310898.1_Silent_p.H63H|ZNF621_ENST00000403205.2_Silent_p.H63H NM_198484.3 NP_940886.1 Q6ZSS3 ZN621_HUMAN zinc finger protein 621 63 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648) TGATCTCCCACCTGGAGAGAG 0.507000 15 48 0 0 0.007413 0 0 KLF4 9314 broad.mit.edu 37 9 110249864 110249864 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr9:110249864G>A ENST00000374672.4 - 3 1284 c.811C>T c.(811-813)Ccg>Tcg p.P271S NM_004235.4 NP_004226.3 O43474 KLF4_HUMAN Kruppel-like factor 4 (gut) 271 Pro-rich. fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter nucleus RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2) 16 CACGTGCGCGGCGGCCCGCCG 0.701000 5 2 0 0 0.000602 0 0 PCDHA13 56136 broad.mit.edu 37 5 140262124 140262124 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr5:140262124G>A ENST00000289272.2 + 1 271 c.271G>A c.(271-273)Gac>Aac p.D91N PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.D91N|PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 p.D91N(1) NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCTCGGATCGACCGCGAGGA 0.592000 56 94 0 0 0.003610 0 0 COL4A5 1287 broad.mit.edu 37 X 107824250 107824250 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chrX:107824250G>A ENST00000328300.6 + 16 1173 c.929G>A c.(928-930)gGa>gAa p.G310E COL4A5_ENST00000361603.2_Missense_Mutation_p.G310E NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 310 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 GGCCAACCAGGAATTCCTGTA 0.388000 Alport syndrome with Diffuse Leiomyomatosis 23 41 0 0 0.003954 0 0 NOL11 25926 broad.mit.edu 37 17 65732798 65732798 + Silent SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr17:65732798C>T ENST00000253247.4 + 10 1186 c.1071C>T c.(1069-1071)tcC>tcT p.S357S NOL11_ENST00000535137.1_Silent_p.S175S NM_015462.3 NP_056277.2 Q9H8H0 NOL11_HUMAN nucleolar protein 11 357 nucleolus haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1) 11 all_cancers(12;1.54e-10) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24) ATGTCGTGTCCCATTTTGTAA 0.358000 4 22 0 0 0.000602 0 0 CYP1B1 1545 broad.mit.edu 37 2 38301675 38301675 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr2:38301675C>T ENST00000260630.3 - 2 1258 c.857G>A c.(856-858)gGg>gAg p.G286E CYP1B1_ENST00000494864.1_Intron|CYP1B1_ENST00000407341.1_Missense_Mutation_p.G286E NM_000104.3 NP_000095.2 Q16678 CP1B1_HUMAN cytochrome P450, family 1, subfamily B, polypeptide 1 286 visual perception|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1) 13 all_hematologic(82;0.21) Estrone(DB00655) gggggcggccccgggccgAAG 0.627000 3 11 0 0 0.000248 0 0 SCN10A 6336 broad.mit.edu 37 3 38763770 38763770 + Silent SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr3:38763770G>A ENST00000449082.2 - 19 3485 c.3486C>T c.(3484-3486)atC>atT p.I1162I NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1162 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TGCTGAGCAGGATCATGAAGA 0.537000 19 29 0 0 0.007413 0 0 ZNF888 388559 broad.mit.edu 37 19 53418497 53418497 + RNA SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr19:53418497G>A ENST00000596623.1 - 0 502 zinc finger protein 888 TCTCTGTATAGAGTCCTCTGA 0.463000 21 55 0 0 0.005443 0 0 MYOM1 8736 broad.mit.edu 37 18 3116406 3116406 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr18:3116406C>T ENST00000400569.3 - 21 3559 c.3226G>A c.(3226-3228)Gac>Aac p.D1076N MYOM1_ENST00000356443.4_Missense_Mutation_p.D1076N|MYOM1_ENST00000261606.7_Missense_Mutation_p.D980N P52179 MYOM1_HUMAN myomesin 1 1076 Fibronectin type-III 5. striated muscle myosin thick filament structural constituent of muscle NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TCCTTCAAGTCCACGAAGTAA 0.537000 10 20 0 0 0.008291 0 0 FLT3 2322 broad.mit.edu 37 13 28588639 28588639 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr13:28588639G>A ENST00000380982.4 - 23 2899 c.2818C>T c.(2818-2820)Cct>Tct p.P940S FLT3_ENST00000469894.1_5'UTR|FLT3_ENST00000537084.1_Missense_Mutation_p.P896S|FLT3_ENST00000241453.7_Missense_Mutation_p.P937S P36888 FLT3_HUMAN fms-related tyrosine kinase 3 937 Protein kinase. T -> H (in Ref. 6; AAA35487). positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) GTCAAATTAGGGAAGGATGGC 0.398000 """Mis, O""" """AML, ALL""" 13 29 0 0 0.004990 0 0 ATP8A1 10396 broad.mit.edu 37 4 42580365 42580365 + Missense_Mutation SNP A A T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr4:42580365A>T ENST00000381668.5 - 12 1271 c.1040T>A c.(1039-1041)tTc>tAc p.F347Y ATP8A1_ENST00000264449.10_Missense_Mutation_p.F347Y NM_006095.2 NP_006086.1 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 347 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) AAGGATGATGAAGGTCAAGAA 0.358000 24 35 0 0 0.001786 0 0 LILRA1 11024 broad.mit.edu 37 19 55106777 55106777 + Missense_Mutation SNP C C T rs141328341 TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr19:55106777C>T ENST00000453777.1 + 5 741 c.571C>T c.(571-573)Cgc>Tgc p.R191C LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.R191C NM_001278318.1 NP_001265247.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 191 Ig-like C2-type 2. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) GAGCCCGAGTCGCAGGTGGTC 0.567000 29 80 0 0 0.005443 0 0 ZEB1 6935 broad.mit.edu 37 10 31810698 31810698 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr10:31810698C>T ENST00000446923.2 + 7 2778 c.2387C>T c.(2386-2388)cCc>cTc p.P796L ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000560721.2_Missense_Mutation_p.P792L|ZEB1_ENST00000320985.10_Missense_Mutation_p.P812L|ZEB1_ENST00000361642.5_Missense_Mutation_p.P813L|ZEB1_ENST00000542815.3_Missense_Mutation_p.P745L NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 812 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) GCCCAGTTACCCACAATCGTG 0.473000 14 31 0 0 0.003163 0 0 KDM3B 51780 broad.mit.edu 37 5 137761262 137761262 + Missense_Mutation SNP A A T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr5:137761262A>T ENST00000314358.5 + 17 4602 c.4402A>T c.(4402-4404)Atc>Ttc p.I1468F KDM3B_ENST00000542866.1_Missense_Mutation_p.I500F|KDM3B_ENST00000394866.1_Missense_Mutation_p.I1124F NM_016604.3 NP_057688.2 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 1468 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 TGGTTTCGAGATCATATGCAG 0.408000 9 39 0 0 0.006214 0 0 MAP3K2 10746 broad.mit.edu 37 2 128083324 128083324 + Silent SNP T T A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr2:128083324T>A ENST00000409947.1 - 9 939 c.657A>T c.(655-657)tcA>tcT p.S219S MAP3K2_ENST00000344908.5_Silent_p.S219S Q9Y2U5 M3K2_HUMAN mitogen-activated protein kinase kinase kinase 2 219 activation of JUN kinase activity|cellular response to mechanical stimulus nucleus ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2) 7 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0706) GACTATCAAGTGATGGACAAC 0.403000 22 57 0 0 0.002780 0 0 PKDREJ 10343 broad.mit.edu 37 22 46655878 46655878 + Nonsense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr22:46655878C>T ENST00000253255.5 - 1 3341 c.3342G>A c.(3340-3342)tgG>tgA p.W1114* NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 1114 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) AACCCTCTCTCCATTCACTCT 0.488000 16 43 0 0 0.006122 0 0 MTMR14 64419 broad.mit.edu 37 3 9743588 9743588 + Silent SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr3:9743588C>T ENST00000296003.4 + 19 2006 c.1884C>T c.(1882-1884)gcC>gcT p.A628A MTMR14_ENST00000420925.1_Silent_p.A270A|MTMR14_ENST00000353332.5_Silent_p.A576A|MTMR14_ENST00000351233.5_Silent_p.A516A NM_001077525.2 NP_001070993.1 Q8NCE2 MTMRE_HUMAN myotubularin related protein 14 628 perinuclear region of cytoplasm|ruffle phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 21 Medulloblastoma(99;0.227) CTTCCGGTGCCATCGGGGGCC 0.612000 21 59 0 0 0.004656 0 0 OR13C4 138804 broad.mit.edu 37 9 107288604 107288604 + Missense_Mutation SNP T T A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr9:107288604T>A ENST00000277216.3 - 1 886 c.887A>T c.(886-888)tAt>tTt p.Y296F NM_001001919.1 NP_001001919.1 Q8NGS5 O13C4_HUMAN olfactory receptor, family 13, subfamily C, member 4 296 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(2)|lung(14)|skin(1) 18 TCTCAAGCTATAGATTATGGG 0.398000 21 25 0 0 0.008871 0 0 APOB 338 broad.mit.edu 37 2 21260931 21260931 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr2:21260931C>T ENST00000233242.1 - 5 563 c.436G>A c.(436-438)Gag>Aag p.E146K APOB_ENST00000399256.4_Missense_Mutation_p.E146K NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 146 Vitellogenin. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TCATCTTTCTCCGGGTAAAGG 0.493000 133 175 0 0 0.003610 0 0 ADAM7 8756 broad.mit.edu 37 8 24323234 24323234 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr8:24323234C>T ENST00000175238.6 + 5 418 c.335C>T c.(334-336)tCc>tTc p.S112F RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.S112F|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000441335.2_Missense_Mutation_p.S112F NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 112 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) TACCAAGGATCCATAGTACAC 0.289000 7 21 0 0 0.003080 0 0 CDH9 1007 broad.mit.edu 37 5 26916004 26916004 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr5:26916004C>T ENST00000231021.4 - 3 429 c.257G>A c.(256-258)gGa>gAa p.G86E NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 86 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 TTTTAAATTTCCATCTCCTTT 0.338000 17 53 0 0 0.004990 0 0 RPS6KA4 8986 broad.mit.edu 37 11 64137784 64137784 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr11:64137784C>T ENST00000528057.1 + 15 1952 c.1864C>T c.(1864-1866)Cgc>Tgc p.R622C RPS6KA4_ENST00000334205.4_Missense_Mutation_p.R629C|RPS6KA4_ENST00000294261.4_Missense_Mutation_p.R381C NM_001006944.1 NP_001006945.1 O75676 KS6A4_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 4 629 Protein kinase 2. axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1) 13 GTGCAAAATCCGCGAGGGGCG 0.657000 18 62 0 0 0.006122 0 0 HSP90AB2P 391634 broad.mit.edu 37 4 13338908 13338908 + RNA SNP T T G TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr4:13338908T>G ENST00000602906.1 + 0 696 kidney(3)|lung(1) 4 agaagaaaactaagaagatca 0.398000 4 13 0 0 0.000248 0 0 NCBP1 4686 broad.mit.edu 37 9 100431132 100431132 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr9:100431132G>A ENST00000375147.3 + 21 2277 c.2021G>A c.(2020-2022)aGt>aAt p.S674N NM_002486.4 NP_002477.1 Q09161 NCBP1_HUMAN nuclear cap binding protein subunit 1, 80kDa 674 S -> G (in Ref. 3; BAG35665). gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex protein binding|RNA cap binding NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4) 19 Acute lymphoblastic leukemia(62;0.158) CTATAGCGAAGTGATGATGAC 0.418000 6 19 0 0 0.001168 0 0 DNHD1 144132 broad.mit.edu 37 11 6541243 6541243 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr11:6541243C>T ENST00000254579.6 + 9 2260 c.1696C>T c.(1696-1698)Cat>Tat p.H566Y DNHD1_ENST00000354685.3_Missense_Mutation_p.H566Y|DNHD1_ENST00000527990.2_Missense_Mutation_p.H566Y NM_144666.2 NP_653267.2 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 566 microtubule-based movement dynein complex microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 55 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) CTTTGATGATCATGGTCAACT 0.463000 23 67 0 0 0.005443 0 0 BTNL8 79908 broad.mit.edu 37 5 180335686 180335686 + Silent SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr5:180335686C>T ENST00000231229.4 + 2 384 c.150C>T c.(148-150)gcC>gcT p.A50A BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000340184.4_Silent_p.A50A|BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000508408.1_Silent_p.A50A NM_001159708.1|NM_024850.2 NP_001153180.1|NP_079126.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 50 Ig-like V-type 1. integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ATGCAGAGGCCATGGAAGTGC 0.577000 24 83 0 0 0.002780 0 0 CCDC102B 79839 broad.mit.edu 37 18 66564501 66564501 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr18:66564501G>A ENST00000360242.5 + 6 1216 c.1099G>A c.(1099-1101)Gaa>Aaa p.E367K CCDC102B_ENST00000584156.1_Missense_Mutation_p.E367K|CCDC102B_ENST00000319445.6_Missense_Mutation_p.E367K|CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000358653.5_Missense_Mutation_p.E367K NM_024781.2 NP_079057.2 Q68D86 C102B_HUMAN coiled-coil domain containing 102B 367 breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1) 36 Esophageal squamous(42;0.0559)|Colorectal(73;0.0604) GGACAAGAGGGAAATACTTGA 0.403000 9 53 0 0 0.000978 0 0 PLD4 122618 broad.mit.edu 37 14 105394092 105394092 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr14:105394092C>T ENST00000540372.1 + 3 386 c.194C>T c.(193-195)cCc>cTc p.P65L PLD4_ENST00000392593.4_Missense_Mutation_p.P58L Q96BZ4 PLD4_HUMAN phospholipase D family, member 4 58 lipid catabolic process integral to membrane NAPE-specific phospholipase D activity|phospholipase D activity central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 13 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116) Choline(DB00122) CCCCGTCCTCCCACCTGGGGC 0.687000 5 2 0 0 0.001168 0 0 CLEC4C 170482 broad.mit.edu 37 12 7890135 7890135 + Nonsense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr12:7890135G>A ENST00000542353.1 - 5 761 c.271C>T c.(271-273)Cag>Tag p.Q91* CLEC4C_ENST00000354629.5_Nonsense_Mutation_p.Q60*|CLEC4C_ENST00000360345.3_Nonsense_Mutation_p.Q91*|CLEC4C_ENST00000540085.1_Nonsense_Mutation_p.Q60* NM_130441.2 NP_569708.1 Q8WTT0 CLC4C_HUMAN C-type lectin domain family 4, member C 91 C-type lectin. innate immune response integral to membrane sugar binding autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Kidney(36;0.0915) CAACTAGACTGAAATGAAGTC 0.403000 32 38 0 0 0.004289 0 0 KRTAP17-1 83902 broad.mit.edu 37 17 39471786 39471786 + Silent SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr17:39471786C>T ENST00000334202.3 - 1 161 c.117G>A c.(115-117)ggG>ggA p.G39G NM_031964.1 NP_114170.1 Q9BYP8 KR171_HUMAN keratin associated protein 17-1 39 intermediate filament haematopoietic_and_lymphoid_tissue(1)|large_intestine(1) 2 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) agccagagcccccacagccac 0.687000 3 8 0 0 0.004672 0 0 SPEN 23013 broad.mit.edu 37 1 16257957 16257957 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr1:16257957C>T ENST00000375759.3 + 11 5426 c.5222C>T c.(5221-5223)tCg>tTg p.S1741L NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 1741 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding p.S1741L(1) NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) CCCGGGGCCTCGTTTTCCCAG 0.562000 25 195 0 0 0.004656 0 0 SLC8B1 80024 broad.mit.edu 37 12 113759054 113759054 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr12:113759054C>T ENST00000552014.1 - 4 771 c.256G>A c.(256-258)Ggc>Agc p.G86S SLC24A6_ENST00000546737.1_Missense_Mutation_p.G86S|SLC24A6_ENST00000202831.3_Missense_Mutation_p.G86S|SLC24A6_ENST00000553238.1_5'UTR Q6J4K2 NCKX6_HUMAN 86 response to stimulus|sodium ion transport integral to membrane|plasma membrane calcium:cation antiporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1) 16 CAGAAGATGCCTTCCAGGTAG 0.627000 16 59 0 0 0.004007 0 0 ARSF 416 broad.mit.edu 37 X 3030306 3030306 + Silent SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chrX:3030306C>T ENST00000381127.1 + 11 1703 c.1482C>T c.(1480-1482)ttC>ttT p.F494F ARSF_ENST00000359361.2_Silent_p.F494F|ARSF_ENST00000537104.1_Silent_p.F494F NM_001201538.1|NM_001201539.1 NP_001188467.1|NP_001188468.1 P54793 ARSF_HUMAN arylsulfatase F 494 extracellular region arylsulfatase activity|metal ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 38 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GCAGATGTTTCGGAGAACAGG 0.572000 41 108 0 0 0.003610 0 0 DENND2A 27147 broad.mit.edu 37 7 140301597 140301597 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr7:140301597G>A ENST00000275884.6 - 2 1018 c.601C>T c.(601-603)Ctt>Ttt p.L201F DENND2A_ENST00000492720.1_Missense_Mutation_p.L201F|DENND2A_ENST00000537639.1_Missense_Mutation_p.L201F|DENND2A_ENST00000496613.1_Missense_Mutation_p.L201F Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 201 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Melanoma(164;0.00956) TTCTCAGGAAGGGTGGACCCT 0.637000 8 57 0 0 0.004482 0 0 MIR525 574470 broad.mit.edu 37 19 54200822 54200822 + RNA SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr19:54200822C>T ENST00000384978.1 + 0 36 NR_030192.1 TGCACTTTCTCTTATGTGAAA 0.433000 14 21 0 0 0.001855 0 0 OR9A2 135924 broad.mit.edu 37 7 142723902 142723902 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr7:142723902C>T ENST00000350513.2 - 1 380 c.318G>A c.(316-318)atG>atA p.M106I NM_001001658.1 NP_001001658.1 Q8NGT5 OR9A2_HUMAN olfactory receptor, family 9, subfamily A, member 2 106 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3) 25 Melanoma(164;0.059) ATGCAAACTCCATGGTCCCAC 0.458000 16 18 0 0 0.003163 0 0 KNSTRN 90417 broad.mit.edu 37 15 40675118 40675118 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr15:40675118C>T ENST00000416151.2 + 1 197 c.82C>T c.(82-84)Ccg>Tcg p.P28S KNSTRN_ENST00000448395.2_Missense_Mutation_p.P28S|KNSTRN_ENST00000249776.8_Missense_Mutation_p.P28S NM_001142761.1 NP_001136233.1 kinetochore-localized astrin/SPAG5 binding protein CCACCCACTTCCGCCTAGCTA 0.562000 19 24 0 0 0.007413 0 0 IL17D 53342 broad.mit.edu 37 13 21296055 21296055 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr13:21296055C>T ENST00000304920.3 + 3 679 c.571C>T c.(571-573)Ctc>Ttc p.L191F NM_138284.1 NP_612141.1 Q8TAD2 IL17D_HUMAN interleukin 17D 191 inflammatory response extracellular space cytokine activity endometrium(1)|skin(1) 2 all_cancers(29;9.63e-24)|all_epithelial(30;1.09e-19)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000301)|Epithelial(112;0.000633)|OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Lung(94;0.0154)|LUSC - Lung squamous cell carcinoma(192;0.0414) GGGCGCCAAGCTCCTGCTGGG 0.721000 13 19 0 0 0.001855 0 0 TFAM 7019 broad.mit.edu 37 10 60154712 60154712 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr10:60154712G>A ENST00000487519.1 + 7 1145 c.619G>A c.(619-621)Gac>Aac p.D207N TFAM_ENST00000373895.3_Missense_Mutation_p.D175N|TFAM_ENST00000373899.3_3'UTR NM_003201.1 NP_003192.1 Q00059 TFAM_HUMAN transcription factor A, mitochondrial 207 DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter mitochondrial nucleoid mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(1)|lung(4)|prostate(1) 7 TGCTAAAGAGGACGAAACTCG 0.289000 7 6 0 0 0.003080 0 0 IFNA16 3449 broad.mit.edu 37 9 21217173 21217173 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr9:21217173C>T ENST00000380216.1 - 1 137 c.132G>A c.(130-132)atG>atA p.M44I NM_002173.2 NP_002164.1 P05015 IFN16_HUMAN interferon, alpha 16 44 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 13 Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) AGATTCTTCCCATTTGTGCCA 0.507000 49 25 0 0 0.003610 0 0 TTN 7273 broad.mit.edu 37 2 179587548 179587548 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr2:179587548C>T ENST00000589042.1 - 76 22302 c.22078G>A c.(22078-22080)Gat>Aat p.D7360N TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D6116N|TTN_ENST00000591111.1_Missense_Mutation_p.D7043N NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7043 Ig-like 55. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AATTTGGTATCTCCTTTGTAC 0.428000 13 11 0 0 0.003163 0 0 NELFB 25920 broad.mit.edu 37 9 140161467 140161467 + Silent SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr9:140161467G>A ENST00000343053.4 + 9 1504 c.1167G>A c.(1165-1167)gtG>gtA p.V389V NM_015456.3 NP_056271.2 negative elongation factor complex member B CTTTCAATGTGGATCAGAAAC 0.557000 5 32 0 0 0.001168 0 0 OR14A16 284532 broad.mit.edu 37 1 247978878 247978878 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr1:247978878G>A ENST00000357627.1 - 1 153 c.154C>T c.(154-156)Cat>Tat p.H52Y NM_001001966.1 NP_001001966.1 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, member 16 52 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1) 45 GTGTGGAGATGATGGTCCAAA 0.393000 16 29 0 0 0.004990 0 0 GMPPA 29926 broad.mit.edu 37 2 220366282 220366282 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr2:220366282G>A ENST00000358215.3 + 4 592 c.223G>A c.(223-225)Gag>Aag p.E75K AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373908.1_Missense_Mutation_p.E75K|GMPPA_ENST00000373917.3_Missense_Mutation_p.E75K|GMPPA_ENST00000341142.3_Missense_Mutation_p.E75K|GMPPA_ENST00000313597.5_Missense_Mutation_p.E75K NM_205847.2 NP_995319.1 Q96IJ6 GMPPA_HUMAN GDP-mannose pyrophosphorylase A 75 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine GTP binding|mannose-1-phosphate guanylyltransferase activity p.E75K(1) breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 20 Renal(207;0.0183) Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148) CGCCCAGCAGGAGTTTAACCT 0.547000 36 46 0 0 0.004878 0 0 CRB1 23418 broad.mit.edu 37 1 197407692 197407692 + Silent SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr1:197407692C>T ENST00000367397.1 + 6 2766 c.1908C>T c.(1906-1908)ccC>ccT p.P636P CRB1_ENST00000535699.1_Silent_p.P1231P|RP11-75C23.1_ENST00000422250.1_RNA|CRB1_ENST00000367399.2_Silent_p.P1143P|CRB1_ENST00000367400.3_Silent_p.P1255P|CRB1_ENST00000544212.1_Silent_p.P736P|CRB1_ENST00000538660.1_Silent_p.P719P P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 1255 Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 GCAGATTACCCTCAACAGTCT 0.408000 14 57 0 0 0.003163 0 0 FLT1 2321 broad.mit.edu 37 13 29004199 29004199 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr13:29004199G>A ENST00000282397.4 - 8 1345 c.1094C>T c.(1093-1095)cCg>cTg p.P365L FLT1_ENST00000539099.1_Missense_Mutation_p.P365L|FLT1_ENST00000541932.1_Missense_Mutation_p.P365L NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 365 Ig-like C2-type 4. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) TACAACTTCCGGCGAGGGAAA 0.453000 25 55 0 0 0.007291 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45127107 45127107 + RNA SNP C C G rs147409399 by1000genomes TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr17:45127107C>G ENST00000575173.1 - 0 418 CCTTCGTTCACCCAAGAGCAT 0.592000 3 49 0 0 0.000248 0 0 OR51E1 143503 broad.mit.edu 37 11 4674041 4674041 + Silent SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr11:4674041C>T ENST00000396952.5 + 2 935 c.285C>T c.(283-285)atC>atT p.I95I OR51E1_ENST00000530215.1_Intron NM_152430.3 NP_689643.2 Q8TCB6 O51E1_HUMAN olfactory receptor, family 51, subfamily E, member 1 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2) 30 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19) CCACTACCATCCAGTTTGATG 0.473000 4 27 0 0 0.000602 0 0 MRGPRE 116534 broad.mit.edu 37 11 3249685 3249685 + Silent SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr11:3249685C>T ENST00000389832.5 - 2 651 c.345G>A c.(343-345)gcG>gcA p.A115A AC109309.4_ENST00000418995.2_RNA|MRGPRE_ENST00000436689.2_Silent_p.A114A Q86SM8 MRGRE_HUMAN MAS-related GPR, member E 114 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 19 Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19) CGCTGACGGCCGCCAGGAGAC 0.687000 4 11 0 0 0.000602 0 0 ZNF337 26152 broad.mit.edu 37 20 25656980 25656980 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr20:25656980G>A ENST00000376436.1 - 4 1483 c.944C>T c.(943-945)tCa>tTa p.S315L RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000252979.5_Missense_Mutation_p.S315L|ZNF337_ENST00000538750.1_Missense_Mutation_p.S283L|RP4-694B14.5_ENST00000455791.1_RNA zinc finger protein 337 breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CTTCTCCCCTGAATGCGCCTT 0.473000 34 86 0 0 0.002836 0 0 MAS1L 116511 broad.mit.edu 37 6 29454838 29454838 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr6:29454838C>T ENST00000377127.3 - 1 900 c.842G>A c.(841-843)aGc>aAc p.S281N NM_052967.1 NP_443199.1 P35410 MAS1L_HUMAN MAS1 oncogene-like 281 cytoplasm|integral to membrane|nucleus|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2) 28 GGGTGCCACGCTCAGGGGTAG 0.498000 7 33 0 0 0.003080 0 0 ZNF572 137209 broad.mit.edu 37 8 125989827 125989827 + Silent SNP T T C TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr8:125989827T>C ENST00000319286.5 + 3 1471 c.1317T>C c.(1315-1317)ccT>ccC p.P439P NM_152412.2 NP_689625.2 Q7Z3I7 ZN572_HUMAN zinc finger protein 572 439 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3) 31 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) GAGAGAAACCTTATAAATGTC 0.438000 HNSCC(60;0.17) 29 43 0 0 0.007291 0 0 SAMD9 54809 broad.mit.edu 37 7 92730924 92730924 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr7:92730924C>T ENST00000379958.2 - 3 4756 c.4487G>A c.(4486-4488)gGa>gAa p.G1496E NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1496 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) GTCAATTTTTCCTTTGTGAAC 0.378000 14 21 0 0 0.002450 0 0 CLSTN2 64084 broad.mit.edu 37 3 140167423 140167423 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr3:140167423C>T ENST00000458420.3 + 6 1040 c.850C>T c.(850-852)Cac>Tac p.H284Y NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 284 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 CCCCAGCATCCACCTGGAGAC 0.537000 HNSCC(16;0.037) 47 86 0 0 0.003610 0 0 HLA-DQA1 3117 broad.mit.edu 37 6 32609191 32609191 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr6:32609191G>A ENST00000343139.5 + 2 289 c.187G>A c.(187-189)Gag>Aag p.E63K HLA-DQA1_ENST00000374949.2_Missense_Mutation_p.E63K|HLA-DQA1_ENST00000395363.1_Missense_Mutation_p.E63K NM_002122.3 NP_002113.2 P01909 DQA1_HUMAN major histocompatibility complex, class II, DQ alpha 1 63 Alpha-1. G -> E (in allele DQA1*01:01, allele DQA1*01:02, allele DQA1*01:03, allele DQA1*01:04, allele DQA1*01:05, allele DQA1*01:06, allele DQA1*01:07, allele DQA1*02:01, allele DQA1*03:01, allele DQA1*03:02 and allele DQA1*03:03; dbSNP:rs1142323). antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 CGTGGACCTGGAGAGGAAGGA 0.517000 10 51 0 0 0.006214 0 0 MUC2 4583 broad.mit.edu 37 11 1097738 1097738 + Silent SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr11:1097738G>A ENST00000441003.2 + 36 6858 c.6831G>A c.(6829-6831)gaG>gaA p.E2277E MUC2_ENST00000361558.6_3'UTR NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 4639 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) CCAGCGGGGAGATCGTCTCCA 0.642000 12 14 0 0 0.001368 0 0 NPSR1 387129 broad.mit.edu 37 7 34698136 34698136 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr7:34698136G>A ENST00000360581.1 + 1 240 c.112G>A c.(112-114)Gga>Aga p.G38R AC005493.1_ENST00000399077.1_Intron|NPSR1_ENST00000381542.1_Missense_Mutation_p.G38R|NPSR1_ENST00000531252.1_Missense_Mutation_p.G38R|NPSR1_ENST00000465305.1_Missense_Mutation_p.G38R|NPSR1_ENST00000381553.3_Missense_Mutation_p.G38R|NPSR1-AS1_ENST00000419766.1_RNA|NPSR1_ENST00000359791.1_Missense_Mutation_p.G38R|NPSR1_ENST00000381539.3_Missense_Mutation_p.G38R NM_207172.1 NP_997055.1 Q6W5P4 NPSR1_HUMAN neuropeptide S receptor 1 38 cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7) 31 Halothane(DB01159) AGTGGTGGAAGGAAAGGAATG 0.483000 27 39 0 0 0.004656 0 0 CDR1 1038 broad.mit.edu 37 X 139866498 139866498 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chrX:139866498C>T ENST00000370532.2 - 1 225 c.34G>A c.(34-36)Gac>Aac p.D12N NM_004065.2 NP_004056.2 P51861 CDR1_HUMAN cerebellar degeneration-related protein 1, 34kDa 12 23 X 6 AA approximate repeats. breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1) 25 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) AAAGGTACGTCTTCCAGAAAA 0.413000 67 146 0 0 0.003610 0 0 IPP 3652 broad.mit.edu 37 1 46180064 46180064 + Missense_Mutation SNP A A G TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr1:46180064A>G ENST00000396478.3 - 8 1486 c.1384T>C c.(1384-1386)Tct>Cct p.S462P NM_005897.2 NP_005888.1 Q9Y573 IPP_HUMAN intracisternal A particle-promoted polypeptide 462 actin cytoskeleton|cytoplasm actin binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2) 20 Acute lymphoblastic leukemia(166;0.155) CAACGCTTAGAAAGTGGATCA 0.423000 9 25 0 0 0.006214 0 0 ZCCHC11 23318 broad.mit.edu 37 1 52924079 52924079 + Missense_Mutation SNP A A G TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr1:52924079A>G ENST00000371544.3 - 20 3626 c.3364T>C c.(3364-3366)Tat>Cat p.Y1122H ZCCHC11_ENST00000257177.4_Missense_Mutation_p.Y1122H NM_001009881.2|NM_015269.2 NP_001009881.1|NP_056084.1 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 1122 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 ATATATGCATATGAAGATAAA 0.388000 25 42 0 0 0.005443 0 0 MYO9A 4649 broad.mit.edu 37 15 72208774 72208774 + Silent SNP A A G TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr15:72208774A>G ENST00000356056.5 - 19 3094 c.2622T>C c.(2620-2622)atT>atC p.I874I MYO9A_ENST00000444904.1_Silent_p.I855I|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Silent_p.I874I|MYO9A_ENST00000566885.1_Silent_p.I494I|MYO9A_ENST00000564571.1_Silent_p.I874I NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 874 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 GAGACTTGGTAATGCGATCTT 0.348000 11 32 0 0 0.008291 0 0 PAPPA 5069 broad.mit.edu 37 9 118974139 118974139 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr9:118974139G>A ENST00000328252.3 + 4 2215 c.1846G>A c.(1846-1848)Ggg>Agg p.G616R PAPPA_ENST00000534838.1_Intron NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 616 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 TGGTGACCCAGGGCCAGGAAA 0.532000 33 126 0 0 0.002445 0 0 CDH9 1007 broad.mit.edu 37 5 26915843 26915843 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr5:26915843C>T ENST00000231021.4 - 3 590 c.418G>A c.(418-420)Gaa>Aaa p.E140K NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 140 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 GATTCCGGTTCCACCTGCCGC 0.393000 39 107 0 0 0.006999 0 0 ELL3 80237 broad.mit.edu 37 15 44068348 44068348 + Splice_Site SNP T T A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr15:44068348T>A ENST00000319359.3 - 3 811 c.168_splice c.e3-1 p.Y57_splice RP11-296A16.1_ENST00000417761.2_3'UTR NM_025165.2 NP_079441.1 Q9HB65 ELL3_HUMAN elongation factor RNA polymerase II-like 3 57 positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription elongation from RNA polymerase II promoter transcription elongation factor complex cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1) 13 all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;7.81e-07) GAGTCTCAGATACTGGGGGTG 0.607000 7 16 0 0 0.001984 0 0 WNT9A 7483 broad.mit.edu 37 1 228113089 228113089 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr1:228113089G>A ENST00000272164.5 - 2 237 c.227C>T c.(226-228)cCg>cTg p.P76L WNT9A_ENST00000497852.1_5'UTR NM_003395.2 NP_003386.1 O14904 WNT9A_HUMAN wingless-type MMTV integration site family, member 9A 76 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 19 Prostate(94;0.0405) TGCCACGCCCGGGTCCCGGCG 0.701000 7 4 0 0 0.001984 0 0 FILIP1L 11259 broad.mit.edu 37 3 99569213 99569213 + Missense_Mutation SNP T T C TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr3:99569213T>C ENST00000331335.5 - 5 1777 c.1307A>G c.(1306-1308)aAa>aGa p.K436R FILIP1L_ENST00000383694.2_Missense_Mutation_p.K196R|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000354552.3_Missense_Mutation_p.K436R|FILIP1L_ENST00000471562.1_Missense_Mutation_p.K196R|CMSS1_ENST00000496116.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000487087.1_Missense_Mutation_p.K12R NM_001042459.1 NP_001035924.1 Q4L180 FIL1L_HUMAN filamin A interacting protein 1-like 436 cytoplasm|membrane|myosin complex|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 35 TTGTTTGCTTTTGTTGAAAGC 0.358000 33 45 0 0 0.003271 0 0 RAB39B 116442 broad.mit.edu 37 X 154490184 154490184 + Silent SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chrX:154490184G>A ENST00000369454.3 - 2 846 c.546C>T c.(544-546)atC>atT p.I182I NM_171998.2 NP_741995.1 Q96DA2 RB39B_HUMAN RAB39B, member RAS oncogene family 182 protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport Golgi apparatus|plasma membrane GTP binding breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12) 19 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) AGCCCTCCTGGATTGTAATCT 0.463000 29 51 0 0 0.006320 0 0 GAL3ST1 9514 broad.mit.edu 37 22 30952022 30952022 + Missense_Mutation SNP G G A rs148732637 TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr22:30952022G>A ENST00000402321.1 - 3 507 c.190C>T c.(190-192)Cgg>Tgg p.R64W GAL3ST1_ENST00000406361.1_Missense_Mutation_p.R64W|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.R64W|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.R64W|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.R64W|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.R64W|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.R64W Q99999 G3ST1_HUMAN galactose-3-O-sulfotransferase 1 64 protein N-linked glycosylation Golgi membrane|integral to plasma membrane|membrane fraction galactosylceramide sulfotransferase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 21 CCGTTGGCCCGGATCACTGCC 0.677000 18 28 0 0 0.006320 0 0 DHDDS 79947 broad.mit.edu 37 1 26769252 26769252 + Silent SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr1:26769252C>T ENST00000360009.2 + 4 288 c.211C>T c.(211-213)Cta>Tta p.L71L DHDDS_ENST00000525682.2_Silent_p.L71L|DHDDS_ENST00000531955.1_3'UTR|DHDDS_ENST00000374185.3_Silent_p.L71L|DHDDS_ENST00000526219.1_Silent_p.L71L|DHDDS_ENST00000427245.2_Silent_p.L71L|DHDDS_ENST00000236342.7_Silent_p.L71L NM_024887.3|NM_205861.2 NP_079163.2|NP_995583.1 Q86SQ9 DHDDS_HUMAN dehydrodolichyl diphosphate synthase 71 protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1) 15 all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239) CCTGGGCATCCTAGAGGTGAC 0.512000 47 58 0 0 0.003610 0 0 TMEM211 255349 broad.mit.edu 37 22 25334156 25334156 + Silent SNP C C T rs138723870 TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr22:25334156C>T ENST00000407886.1 - 3 339 c.87G>A c.(85-87)agG>agA p.R29R TMEM211_ENST00000423535.1_Silent_p.R100R|TMEM211_ENST00000382744.1_Silent_p.R29R Q6ICI0 TM211_HUMAN transmembrane protein 211 100 integral to membrane endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 8 CACTGCTTCTCCTTGGGCACA 0.527000 22 46 0 0 0.003330 0 0 UGT3A1 133688 broad.mit.edu 37 5 35954476 35954476 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr5:35954476C>T ENST00000274278.3 - 7 1757 c.1400G>A c.(1399-1401)gGa>gAa p.G467E NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 467 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GTGCGTCGCTCCCCCAGTCTG 0.607000 24 14 0 0 0.003330 0 0 KCTD3 51133 broad.mit.edu 37 1 215792594 215792594 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr1:215792594C>T ENST00000259154.4 + 17 2141 c.1847C>T c.(1846-1848)tCc>tTc p.S616F KCTD3_ENST00000495537.1_3'UTR NM_016121.3 NP_057205.2 Q9Y597 KCTD3_HUMAN potassium channel tetramerization domain containing 3 616 voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1) 33 all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13) CCAGCAACTTCCGTAGTTCAG 0.393000 23 67 0 0 0.003330 0 0 IP6K2 51447 broad.mit.edu 37 3 48726087 48726087 + Silent SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr3:48726087G>A ENST00000328631.5 - 6 1123 c.900C>T c.(898-900)cgC>cgT p.R300R NM_001005909.2|NM_016291.3 NP_001005909.1|NP_057375.2 Q9UHH9 IP6K2_HUMAN inositol hexakisphosphate kinase 2 300 negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway intermediate filament cytoskeleton|nucleus ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 15 GGAGTTCACGGCGCAGGTACC 0.562000 28 34 0 0 0.006320 0 0 NSMCE1 197370 broad.mit.edu 37 16 27238131 27238131 + Silent SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr16:27238131G>A ENST00000361439.4 - 6 609 c.510C>T c.(508-510)ggC>ggT p.G170G NSMCE1_ENST00000565384.1_5'UTR NM_145080.3 NP_659547.2 Q8WV22 NSE1_HUMAN non-SMC element 1 homolog (S. cerevisiae) 170 DNA recombination|DNA repair|intracellular signal transduction nucleus zinc ion binding endometrium(2)|large_intestine(2)|lung(3) 7 GGATGGCCCGGCCGTGCAGGG 0.612000 34 50 0 0 0.006230 0 0 CCDC142 84865 broad.mit.edu 37 2 74709731 74709731 + Silent SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr2:74709731G>A ENST00000393965.3 - 1 630 c.234C>T c.(232-234)ccC>ccT p.P78P CCDC142_ENST00000471713.1_Intron|CCDC142_ENST00000290418.4_Silent_p.P78P NM_032779.3 NP_116168.3 Q17RM4 CC142_HUMAN coiled-coil domain containing 142 78 central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 16 CGCCACCTGCGGGCCCCCGCC 0.741000 11 5 0 0 0.003163 0 0 OLFML2B 25903 broad.mit.edu 37 1 161989927 161989927 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr1:161989927C>T ENST00000294794.3 - 2 643 c.220G>A c.(220-222)Gac>Aac p.D74N OLFML2B_ENST00000367940.2_Missense_Mutation_p.D74N NM_015441.1 NP_056256.1 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B 74 breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) CACTGACAGTCCGAGCCCTCA 0.567000 15 40 0 0 0.003163 0 0 DHDDS 79947 broad.mit.edu 37 1 26769251 26769251 + Silent SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr1:26769251C>T ENST00000360009.2 + 4 287 c.210C>T c.(208-210)atC>atT p.I70I DHDDS_ENST00000525682.2_Silent_p.I70I|DHDDS_ENST00000531955.1_3'UTR|DHDDS_ENST00000374185.3_Silent_p.I70I|DHDDS_ENST00000526219.1_Silent_p.I70I|DHDDS_ENST00000427245.2_Silent_p.I70I|DHDDS_ENST00000236342.7_Silent_p.I70I NM_024887.3|NM_205861.2 NP_079163.2|NP_995583.1 Q86SQ9 DHDDS_HUMAN dehydrodolichyl diphosphate synthase 70 protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1) 15 all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239) ACCTGGGCATCCTAGAGGTGA 0.517000 47 57 0 0 0.003610 0 0 PCDHB10 56126 broad.mit.edu 37 5 140572753 140572753 + Silent SNP T T C TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr5:140572753T>C ENST00000239446.4 + 1 812 c.628T>C c.(628-630)Tta>Cta p.L210L NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 210 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGAGCTCAGCTTAACCCTCAC 0.507000 44 53 0 0 0.002222 0 0 SLC8A1 6546 broad.mit.edu 37 2 40366808 40366808 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr2:40366808C>T ENST00000406785.1 - 7 2359 c.2170G>A c.(2170-2172)Gat>Aat p.D724N SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.D755N|SLC8A1_ENST00000542024.1_Missense_Mutation_p.D724N|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000408028.2_Missense_Mutation_p.D752N|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000405901.3_Missense_Mutation_p.D755N|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000405269.1_Missense_Mutation_p.D724N|SLC8A1_ENST00000403092.1_Missense_Mutation_p.D760N|SLC8A1_ENST00000402441.1_Missense_Mutation_p.D724N|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000332839.4_Missense_Mutation_p.D760N|SLC8A1_ENST00000406391.2_Missense_Mutation_p.D724N|SLC8A1-AS1_ENST00000444629.1_RNA P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 760 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) TCGTCGTCATCATCTTCCCCT 0.502000 27 43 0 0 0.002445 0 0 NOD2 64127 broad.mit.edu 37 16 50744798 50744798 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr16:50744798C>T ENST00000300589.2 + 4 1081 c.976C>T c.(976-978)Ctc>Ttc p.L326F NOD2_ENST00000526417.2_3'UTR NM_022162.1 NP_071445.1 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain containing 2 326 NACHT. activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding p.L326I(1) cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3) 52 all_cancers(37;0.0156) CCAGGAATTTCTCTTTGTCTT 0.592000 10 22 0 0 0.001368 0 0 ZNF786 136051 broad.mit.edu 37 7 148769064 148769064 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr7:148769064G>A ENST00000316286.9 - 3 814 c.542C>T c.(541-543)cCc>cTc p.P181L ZNF786_ENST00000451334.3_Missense_Mutation_p.P230L|ZNF786_ENST00000491431.1_Missense_Mutation_p.P267L Q8N393 ZN786_HUMAN zinc finger protein 786 267 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2) 26 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) GTTCCGGAAGGGGCCCCTCCC 0.677000 7 11 0 0 0.003080 0 0 TRPC7 57113 broad.mit.edu 37 5 135692901 135692901 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr5:135692901C>T ENST00000513104.1 - 2 457 c.175G>A c.(175-177)Gtc>Atc p.V59I TRPC7_ENST00000355180.3_Missense_Mutation_p.V59I|TRPC7_ENST00000426057.2_Missense_Mutation_p.V59I NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 59 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) ATTTTCCGGACCACCGGGATG 0.597000 25 73 0 0 0.007291 0 0 ACTL7B 10880 broad.mit.edu 37 9 111617367 111617367 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr9:111617367C>T ENST00000374667.3 - 1 1872 c.844G>A c.(844-846)Gag>Aag p.E282K NM_006686.3 NP_006677.1 Q9Y614 ACL7B_HUMAN actin-like 7B 282 actin cytoskeleton|cytoplasm structural constituent of cytoskeleton endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 TCCGGGAGCTCGTAGTCCACG 0.632000 16 22 0 0 0.004007 0 0 CDH8 1006 broad.mit.edu 37 16 61687849 61687849 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr16:61687849G>A ENST00000577390.1 - 12 3017 c.2063C>T c.(2062-2064)cCa>cTa p.P688L CDH8_ENST00000299345.6_Missense_Mutation_p.P688L|CDH8_ENST00000577730.1_Missense_Mutation_p.P688L NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 688 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) AATTCCATCTGGATTTTGTAA 0.423000 43 51 0 0 0.002522 0 0 C11orf30 56946 broad.mit.edu 37 11 76174919 76174919 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr11:76174919C>T ENST00000529032.1 + 6 626 c.626C>T c.(625-627)tCt>tTt p.S209F C11orf30_ENST00000533248.1_Missense_Mutation_p.S223F|C11orf30_ENST00000524767.1_Missense_Mutation_p.S224F|C11orf30_ENST00000334736.3_Missense_Mutation_p.S209F|C11orf30_ENST00000525038.1_Missense_Mutation_p.S224F|C11orf30_ENST00000343878.3_Missense_Mutation_p.S209F|C11orf30_ENST00000525919.1_Missense_Mutation_p.S210F|C11orf30_ENST00000524490.1_Missense_Mutation_p.S210F Q7Z589 EMSY_HUMAN chromosome 11 open reading frame 30 209 Interaction with BRCA2.|Poly-Ser. chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2) 60 CGAACAAACTCTTCCAGCTCC 0.443000 44 45 0 0 0.003610 0 0 OR4C6 219432 broad.mit.edu 37 11 55433349 55433349 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr11:55433349C>T ENST00000314259.3 + 1 736 c.707C>T c.(706-708)tCt>tTt p.S236F NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 236 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 AAAGCCCTCTCTACCTGCAGC 0.493000 13 52 0 0 0.002450 0 0 LRRC7 57554 broad.mit.edu 37 1 70226011 70226011 + Missense_Mutation SNP T T A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr1:70226011T>A ENST00000310961.5 + 4 557 c.139T>A c.(139-141)Ttt>Att p.F47I LRRC7_ENST00000370958.1_Missense_Mutation_p.F80I|LRRC7_ENST00000035383.5_Missense_Mutation_p.F42I|LRRC7_ENST00000415775.2_5'UTR Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 42 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 AAAGGAGGTCTTTAACTTCGA 0.418000 6 23 0 0 0.003080 0 0 FREM2 341640 broad.mit.edu 37 13 39263084 39263084 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr13:39263084C>T ENST00000280481.7 + 1 1819 c.1603C>T c.(1603-1605)Cgc>Tgc p.R535C NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 535 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) CCTGGTGCTTCGCATGGTGGA 0.587000 5 15 0 0 0.000602 0 0 MUC3A 4584 broad.mit.edu 37 7 100552100 100552100 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr7:100552100C>T ENST00000319509.7 + 1 851 c.851C>T c.(850-852)cCt>cTt p.P284L mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 ACAGGCTTTCCTAGTCTCTCT 0.453000 14 240 0 0 0.003330 0 0 TMEM67 91147 broad.mit.edu 37 8 94809558 94809558 + Splice_Site SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr8:94809558G>A ENST00000453321.3 + 20 2018 c.e20-1 TMEM67_ENST00000409623.3_Splice_Site NM_153704.5 NP_714915.3 Q5HYA8 MKS3_HUMAN transmembrane protein 67 cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body unfolded protein binding breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1) 41 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.00896) TTCCTGACCAGGTGAGGGTGG 0.353000 14 40 0 0 0.008871 0 0 ZCCHC16 340595 broad.mit.edu 37 X 111697959 111697959 + Translation_Start_Site SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chrX:111697959G>A ENST00000340433.2 + 1 233 c.3G>A c.(1-3)atG>atA p.M1I NM_001004308.2 NP_001004308.2 Q6ZR62 ZCH16_HUMAN zinc finger, CCHC domain containing 16 1 nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 27 GAGACATAATGGAGAAGTGCA 0.468000 29 61 0 0 0.004878 0 0 STIL 6491 broad.mit.edu 37 1 47717418 47717418 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr1:47717418G>A ENST00000360380.3 - 18 3617 c.3254C>T c.(3253-3255)tCg>tTg p.S1085L STIL_ENST00000396221.2_Missense_Mutation_p.S1068L|STIL_ENST00000371877.3_Missense_Mutation_p.S1086L|STIL_ENST00000337817.5_Missense_Mutation_p.S1085L|STIL_ENST00000243182.6_Missense_Mutation_p.S1085L Q15468 STIL_HUMAN SCL/TAL1 interrupting locus 1085 cell proliferation|multicellular organismal development centrosome|cytosol central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 36 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) ATTTTGGTTCGATCGAGTGAC 0.403000 44 84 0 0 0.003610 0 0 CDX4 1046 broad.mit.edu 37 X 72667312 72667312 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chrX:72667312C>T ENST00000373514.2 + 1 223 c.223C>T c.(223-225)Ccc>Tcc p.P75S NM_005193.1 NP_005184.1 O14627 CDX4_HUMAN caudal type homeobox 4 75 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1) 18 Renal(35;0.156) CTGGGGCTCACCCTACAGTCC 0.602000 21 28 0 0 0.001882 0 0 FLT3 2322 broad.mit.edu 37 13 28588640 28588640 + Silent SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr13:28588640G>A ENST00000380982.4 - 23 2898 c.2817C>T c.(2815-2817)ttC>ttT p.F939F FLT3_ENST00000469894.1_5'UTR|FLT3_ENST00000537084.1_Silent_p.F895F|FLT3_ENST00000241453.7_Silent_p.F936F P36888 FLT3_HUMAN fms-related tyrosine kinase 3 936 Protein kinase. positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) TCAAATTAGGGAAGGATGGCC 0.398000 """Mis, O""" """AML, ALL""" 13 30 0 0 0.004990 0 0 MRGPRX1 259249 broad.mit.edu 37 11 18955459 18955459 + Silent SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr11:18955459G>A ENST00000302797.3 - 1 1097 c.873C>T c.(871-873)ctC>ctT p.L291L NM_147199.3 NP_671732.3 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 291 acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 GAGCCCTCTGGAGAACCAGCT 0.542000 10 34 0 0 0.008291 0 0 C11orf16 56673 broad.mit.edu 37 11 8942870 8942870 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr11:8942870G>A ENST00000326053.5 - 6 1503 c.1397C>T c.(1396-1398)tCc>tTc p.S466F C11orf16_ENST00000525780.1_Intron NM_020643.2 NP_065694.2 Q9NQ32 CK016_HUMAN chromosome 11 open reading frame 16 466 p.S466Y(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 22 Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234) AGTCTAACGGGAATTCTTGTT 0.522000 31 30 0 0 0.002836 0 0 CHRNA4 1137 broad.mit.edu 37 20 61987406 61987406 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr20:61987406G>A ENST00000370263.4 - 4 525 c.304C>T c.(304-306)Cca>Tca p.P102S CHRNA4_ENST00000463705.1_Intron NM_000744.6|NM_001256573.1 NP_000735.1|NP_001243502.1 P43681 ACHA4_HUMAN cholinergic receptor, nicotinic, alpha 4 (neuronal) 102 B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1) 33 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) TAGTCAGCTGGGTCCCAGCGC 0.642000 6 37 0 0 0.001168 0 0 BPIFB2 80341 broad.mit.edu 37 20 31600712 31600712 + Splice_Site SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr20:31600712C>T ENST00000170150.3 + 4 502 c.308_splice c.e4+1 p.R103_splice NM_025227.1 NP_079503.1 Q8N4F0 BPIL1_HUMAN BPI fold containing family B, member 2 103 extracellular region lipid binding CAAGGTCTTTCGGTGAGCGGA 0.562000 15 90 0 0 0.003163 0 0 STX19 415117 broad.mit.edu 37 3 93733335 93733335 + Missense_Mutation SNP T T A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr3:93733335T>A ENST00000315099.2 - 2 1035 c.779A>T c.(778-780)tAt>tTt p.Y260F ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000539730.1_Intron|ARL13B_ENST00000486562.1_Intron|ARL13B_ENST00000394222.3_Intron|ARL13B_ENST00000471138.1_Intron|ARL13B_ENST00000535334.1_Intron NM_001001850.2 NP_001001850.1 Q8N4C7 STX19_HUMAN syntaxin 19 260 t-SNARE coiled-coil homology. intracellular protein transport|vesicle-mediated transport membrane SNAP receptor activity kidney(2)|large_intestine(2)|lung(4)|prostate(1) 9 ATTGTTAACATACTCTTTTGT 0.343000 5 20 0 0 0.000602 0 0 TMEM175 84286 broad.mit.edu 37 4 941538 941538 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr4:941538C>T ENST00000264771.4 + 2 196 c.11C>T c.(10-12)cCc>cTc p.P4L TMEM175_ENST00000515740.1_Intron|TMEM175_ENST00000508204.1_Intron NM_032326.2 NP_115702.1 Q9BSA9 TM175_HUMAN transmembrane protein 175 4 integral to membrane NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3) 14 OV - Ovarian serous cystadenocarcinoma(23;0.0158) ATGTCCCAGCCCCGGACCCCA 0.692000 9 22 0 0 0.001368 0 0 RYR3 6263 broad.mit.edu 37 15 33955132 33955132 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr15:33955132G>A ENST00000389232.4 + 35 5471 c.5401G>A c.(5401-5403)Gaa>Aaa p.E1801K RYR3_ENST00000415757.3_Missense_Mutation_p.E1801K NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1801 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TCGATTACCCGAATCCGTCAA 0.512000 58 95 0 0 0.003610 0 0 KIAA1462 57608 broad.mit.edu 37 10 30315364 30315364 + Missense_Mutation SNP T T C TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr10:30315364T>C ENST00000375377.1 - 3 3814 c.3713A>G c.(3712-3714)aAa>aGa p.K1238R NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 1238 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 TTCAATCACTTTGGAAGGGCT 0.483000 23 30 0 0 0.001882 0 0 MAPKBP1 23005 broad.mit.edu 37 15 42104844 42104844 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr15:42104844C>T ENST00000457542.2 + 7 915 c.629C>T c.(628-630)aCc>aTc p.T210I MAPKBP1_ENST00000514566.1_Missense_Mutation_p.T210I|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.T210I|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.T98I|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.T210I NM_014994.2 NP_055809.2 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 1 210 breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) GACAGCAAGACCTCAAAGGTG 0.577000 13 26 0 0 0.002450 0 0 PEG3 5178 broad.mit.edu 37 19 57328195 57328195 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr19:57328195C>T ENST00000326441.9 - 10 1978 c.1615G>A c.(1615-1617)Gaa>Aaa p.E539K PEG3_ENST00000598410.1_Missense_Mutation_p.E415K|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.E539K|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.E413K NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 539 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TCCTCACATTCCTGATTCTTA 0.443000 21 71 0 0 0.001523 0 0 MS4A2 2206 broad.mit.edu 37 11 59860950 59860950 + Silent SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr11:59860950G>A ENST00000278888.3 + 5 558 c.456G>A c.(454-456)ctG>ctA p.L152L NM_000139.4 NP_000130.1 Q01362 FCERB_HUMAN membrane-spanning 4-domains, subfamily A, member 2 152 cell proliferation|humoral immune response integral to plasma membrane calcium channel activity endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2) 17 all_epithelial(135;0.245) Omalizumab(DB00043) TCATCAACCTGAAGAAGAGCT 0.438000 28 34 0 0 0.001786 0 0 ZFHX4 79776 broad.mit.edu 37 8 77776234 77776234 + Silent SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr8:77776234C>T ENST00000521891.2 + 11 10732 c.10284C>T c.(10282-10284)ttC>ttT p.F3428F ZFHX4_ENST00000050961.6_Silent_p.F3379F|ZFHX4_ENST00000455469.2_Silent_p.F3383F|ZFHX4_ENST00000518282.1_Silent_p.F3402F NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 3379 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.F3412F(1) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TCTGTTATTTCGGTCAGCCTT 0.438000 HNSCC(33;0.089) 4 14 0 0 0.000248 0 0 ALPK3 57538 broad.mit.edu 37 15 85401094 85401094 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr15:85401094G>A ENST00000258888.5 + 6 3898 c.3731G>A c.(3730-3732)gGc>gAc p.G1244D NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 1244 heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) CGCCTCACCGGCCTCCTGGAC 0.682000 6 17 0 0 0.001984 0 0 MXRA8 54587 broad.mit.edu 37 1 1289861 1289861 + Silent SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr1:1289861G>A ENST00000309212.6 - 6 1008 c.978C>T c.(976-978)gtC>gtT p.V326V MXRA8_ENST00000445648.2_Silent_p.V326V|MXRA8_ENST00000342753.4_Silent_p.V225V NM_032348.2 NP_115724.1 Q9BRK3 MXRA8_HUMAN matrix-remodelling associated 8 326 integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) TGACATTGATGACGTTGTGGC 0.687000 18 34 0 0 0.001523 0 0 SCN3A 6328 broad.mit.edu 37 2 165986630 165986630 + Silent SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr2:165986630C>T ENST00000360093.3 - 17 3233 c.2742G>A c.(2740-2742)aaG>aaA p.K914K SCN3A_ENST00000409101.3_Silent_p.K865K|SCN3A_ENST00000283254.7_Silent_p.K914K NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 914 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) CATCATTGATCTTGCAGACAC 0.498000 35 61 0 0 0.003610 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147183076 147183076 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr7:147183076G>A ENST00000361727.3 + 11 2236 c.1720G>A c.(1720-1722)Gac>Aac p.D574N NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 574 EGF-like 1. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GCAAACATGGGACAGCTTCAA 0.433000 HNSCC(39;0.1) 17 71 0 0 0.007413 0 0 FLRT3 23767 broad.mit.edu 37 20 14307575 14307575 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr20:14307575G>A ENST00000378053.3 - 2 834 c.578C>T c.(577-579)cCa>cTa p.P193L FLRT3_ENST00000341420.4_Missense_Mutation_p.P193L|MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000310348.4_Intron NM_013281.3 NP_037413.1 Q9NZU0 FLRT3_HUMAN fibronectin leucine rich transmembrane protein 3 193 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) TTGAAGAGATGGTGATGAAAT 0.418000 48 29 0 0 0.003214 0 0 ASIC1 41 broad.mit.edu 37 12 50471139 50471139 + Silent SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr12:50471139G>A ENST00000228468.4 + 4 1087 c.702G>A c.(700-702)ggG>ggA p.G234G ASIC1_ENST00000552438.1_Silent_p.G268G|ASIC1_ENST00000447966.2_Silent_p.G234G NM_020039.3 NP_064423.2 P78348 ACCN2_HUMAN acid-sensing (proton-gated) ion channel 1 234 calcium ion transport|response to pH|signal transduction integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) CTGTGTGGGGGGAGACTGGTA 0.642000 7 8 0 0 0.001984 0 0 BCS1L 617 broad.mit.edu 37 2 219525825 219525825 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr2:219525825G>A ENST00000431802.1 + 2 814 c.115G>A c.(115-117)Ggc>Agc p.G39S BCS1L_ENST00000439945.1_Missense_Mutation_p.G39S|BCS1L_ENST00000359273.3_Missense_Mutation_p.G39S|BCS1L_ENST00000412366.1_Missense_Mutation_p.G39S|BCS1L_ENST00000392109.1_Missense_Mutation_p.G39S|BCS1L_ENST00000392110.2_Missense_Mutation_p.G39S|BCS1L_ENST00000392111.2_Missense_Mutation_p.G39S Q9Y276 BCS1_HUMAN BC1 (ubiquinol-cytochrome c reductase) synthesis-like 39 mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly integral to membrane|mitochondrial respiratory chain complex III ATP binding|nucleoside-triphosphatase activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1) 8 Renal(207;0.0474) Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGTCCAACTGGGCCTGGTGGC 0.597000 27 39 0 0 0.004656 0 0 SEC23B 10483 broad.mit.edu 37 20 18506573 18506573 + Silent SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr20:18506573G>A ENST00000336714.3 + 7 1263 c.831G>A c.(829-831)ctG>ctA p.L277L SEC23B_ENST00000377465.1_Silent_p.L277L|SEC23B_ENST00000262544.2_Silent_p.L277L|SEC23B_ENST00000377475.3_Silent_p.L277L NM_006363.4|NM_032985.4|NM_032986.3 NP_006354.2|NP_116780.1|NP_116781.1 Q15437 SC23B_HUMAN Sec23 homolog B (S. cerevisiae) 277 ER to Golgi vesicle-mediated transport|intracellular protein transport COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 32 TTGGCTTGCTGGAGGTAATTT 0.433000 19 43 0 0 0.003954 0 0 KRT19 3880 broad.mit.edu 37 17 39680045 39680045 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr17:39680045C>T ENST00000361566.3 - 6 1213 c.1153G>A c.(1153-1155)Gag>Aag p.E385K NM_002276.4 NP_002267.2 keratin 19 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2) 12 Breast(137;0.00038) TCCTGTCCCTCGAGCAGGCTG 0.577000 5 21 0 0 0.000602 0 0 OR4C11 219429 broad.mit.edu 37 11 55371330 55371330 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr11:55371330G>A ENST00000302231.4 - 1 544 c.520C>T c.(520-522)Cat>Tat p.H174Y NM_001004700.2 NP_001004700.2 Q6IEV9 OR4CB_HUMAN olfactory receptor, family 4, subfamily C, member 11 174 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1) 33 CAGCAATAATGATCAATCAAA 0.438000 22 18 0 0 0.001882 0 0 GRIA3 2892 broad.mit.edu 37 X 122387391 122387391 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chrX:122387391G>A ENST00000264357.5 + 3 798 c.506G>A c.(505-507)cGa>cAa p.R169Q GRIA3_ENST00000541091.1_Missense_Mutation_p.R153Q|GRIA3_ENST00000479118.1_3'UTR|GRIA3_ENST00000371251.1_Missense_Mutation_p.R169Q|GRIA3_ENST00000371256.5_Missense_Mutation_p.R169Q|GRIA3_ENST00000542149.1_Missense_Mutation_p.R169Q NM_000828.4 NP_000819.3 P42263 GRIA3_HUMAN glutamate receptor, ionotropic, AMPA 3 169 glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 57 L-Glutamic Acid(DB00142) GACACAGAACGAGGTAAGAAG 0.433000 12 35 0 0 0.004990 0 0 NSFL1C 55968 broad.mit.edu 37 20 1424412 1424412 + Silent SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr20:1424412G>A ENST00000216879.4 - 9 1962 c.1095C>T c.(1093-1095)atC>atT p.I365I NSFL1C_ENST00000350991.4_Silent_p.I367I|NSFL1C_ENST00000476071.1_Silent_p.I367I|NSFL1C_ENST00000381658.4_Silent_p.I254I|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000353088.2_Silent_p.I334I NM_016143.4 NP_057227.2 Q9UNZ2 NSF1C_HUMAN NSFL1 (p97) cofactor (p47) 365 UBX. chromosome|Golgi stack|nucleus lipid binding|protein binding breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 16 ACCGCTGCACGATGACAGCAT 0.597000 12 19 0 0 0.001855 0 0 ARF4 378 broad.mit.edu 37 3 57569729 57569729 + Missense_Mutation SNP T T C TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr3:57569729T>C ENST00000303436.6 - 3 421 c.154A>G c.(154-156)Aat>Gat p.N52D ARF4_ENST00000496292.1_Missense_Mutation_p.N25D|ARF4_ENST00000493378.1_5'UTR|ARF4_ENST00000489843.1_Intron NM_001660.3 NP_001651.1 P18085 ARF4_HUMAN ADP-ribosylation factor 4 52 protein transport|small GTPase mediated signal transduction|vesicle-mediated transport Golgi apparatus GTP binding|GTPase activity large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 7 KIRC - Kidney renal clear cell carcinoma(284;0.0449)|Kidney(284;0.0561) GTTTCCACATTAAAACCTACA 0.333000 17 44 0 0 0.006122 0 0 HGF 3082 broad.mit.edu 37 7 81381519 81381519 + Missense_Mutation SNP C C G TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr7:81381519C>G ENST00000222390.5 - 5 768 c.542G>C c.(541-543)cGa>cCa p.R181P HGF_ENST00000444829.2_Missense_Mutation_p.R181P|HGF_ENST00000457544.2_Missense_Mutation_p.R176P|HGF_ENST00000423064.2_Missense_Mutation_p.R181P|HGF_ENST00000453411.1_Missense_Mutation_p.R176P NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 181 Kringle 1. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 TTCTTCCCCTCGAGGATTTCG 0.433000 16 20 0 0 0.004990 0 0 NCAN 1463 broad.mit.edu 37 19 19338385 19338385 + Silent SNP C C T rs149325641 TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr19:19338385C>T ENST00000252575.5 + 8 1999 c.1956C>T c.(1954-1956)acC>acT p.T652T NCAN_ENST00000538881.1_Silent_p.T103T NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan 652 axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) CCATCTCCACCGAGGCCAATA 0.617000 17 50 0 0 0.004990 0 0 KCNQ5 56479 broad.mit.edu 37 6 73879492 73879492 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr6:73879492G>A ENST00000342056.2 + 12 1947 c.1549G>A c.(1549-1551)Gat>Aat p.D517N KCNQ5_ENST00000355194.4_Missense_Mutation_p.D498N|KCNQ5_ENST00000402622.2_Missense_Mutation_p.D508N|KCNQ5_ENST00000414165.2_Intron|KCNQ5_ENST00000403813.2_Missense_Mutation_p.D489N|KCNQ5_ENST00000370398.1_Missense_Mutation_p.D498N|KCNQ5_ENST00000355635.3_Missense_Mutation_p.D499N NM_001160132.1|NM_001160133.1 NP_001153604.1|NP_001153605.1 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 498 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) TGGCACTGATGATGTATATGA 0.423000 14 11 0 0 0.003163 0 0 OR6N1 128372 broad.mit.edu 37 1 158735715 158735715 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr1:158735715C>T ENST00000335094.2 - 1 777 c.758G>A c.(757-759)gGg>gAg p.G253E NM_001005185.1 NP_001005185.1 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, member 1 253 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_hematologic(112;0.0378) AAGGATGCTCCCATAGAAGAT 0.537000 22 80 0 0 0.003330 0 0 BRINP3 339479 broad.mit.edu 37 1 190068027 190068027 + Nonsense_Mutation SNP G G T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr1:190068027G>T ENST00000367462.3 - 8 1653 c.1422C>A c.(1420-1422)tgC>tgA p.C474* FAM5C_ENST00000534846.1_Nonsense_Mutation_p.C372*|FAM5C_ENST00000484105.1_5'UTR NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 474 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) CTTCAGGCTTGCAGAGCCCCT 0.572000 24 150 8.24728e-16 2.54993e-15 0.004656 1 0 CDCA8 55143 broad.mit.edu 37 1 38168923 38168923 + Splice_Site SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr1:38168923G>A ENST00000373055.1 + 7 761 c.e7-1 CDCA8_ENST00000327331.2_Splice_Site NM_001256875.1|NM_018101.3 NP_001243804.1|NP_060571.1 Q53HL2 BOREA_HUMAN cell division cycle associated 8 cell division|chromosome organization|mitotic metaphase|mitotic prometaphase chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle protein binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1) 11 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CTTACCTGTAGGTCAAGCCGT 0.552000 63 67 0 0 0.003610 0 0 FCRL5 83416 broad.mit.edu 37 1 157512838 157512838 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr1:157512838C>T ENST00000361835.3 - 6 1091 c.934G>A c.(934-936)Gaa>Aaa p.E312K FCRL5_ENST00000356953.4_Missense_Mutation_p.E312K|FCRL5_ENST00000368189.3_Missense_Mutation_p.E312K|FCRL5_ENST00000368190.3_Missense_Mutation_p.E312K|FCRL5_ENST00000368191.3_Missense_Mutation_p.E227K NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 312 Ig-like C2-type 3. integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) AGAGAATCTTCCTGGGTTTCA 0.512000 18 22 0 0 0.007413 0 0 TIPARP 25976 broad.mit.edu 37 3 156395701 156395701 + Missense_Mutation SNP T T C TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr3:156395701T>C ENST00000461166.1 + 2 803 c.215T>C c.(214-216)gTt>gCt p.V72A TIPARP_ENST00000295924.7_Missense_Mutation_p.V72A|TIPARP_ENST00000542783.1_Missense_Mutation_p.V72A|TIPARP_ENST00000486483.1_Missense_Mutation_p.V72A NM_001184717.1 NP_001171646.1 Q7Z3E1 PARPT_HUMAN TCDD-inducible poly(ADP-ribose) polymerase 72 NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 23 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) CTTGATGGGGTTTTTAGATCT 0.398000 35 54 0 0 0.002836 0 0 CENPI 2491 broad.mit.edu 37 X 100381742 100381742 + Silent SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chrX:100381742C>T ENST00000372927.1 + 8 1009 c.732C>T c.(730-732)ttC>ttT p.F244F CENPI_ENST00000218507.5_Silent_p.F244F|CENPI_ENST00000423383.1_Silent_p.F244F|CENPI_ENST00000372926.1_Silent_p.F244F NM_006733.2 NP_006724.2 Q92674 CENPI_HUMAN centromere protein I 244 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase cytosol|kinetochore|nucleoplasm protein binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2) 30 TGTATAAGTTCTTTGCTCCTG 0.353000 93 212 0 0 0.003610 0 0 CHAC2 494143 broad.mit.edu 37 2 53995093 53995093 + Missense_Mutation SNP T T A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr2:53995093T>A ENST00000295304.4 + 1 165 c.70T>A c.(70-72)Tac>Aac p.Y24N GPR75-ASB3_ENST00000394717.2_Intron|GPR75-ASB3_ENST00000482829.1_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000406687.1_Intron|GPR75-ASB3_ENST00000263634.3_Intron NM_001008708.2 NP_001008708.1 Q8WUX2 CHAC2_HUMAN ChaC, cation transport regulator homolog 2 (E. coli) 24 endometrium(1)|large_intestine(2)|lung(4)|prostate(1) 8 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) GCTGGTCGGATACATCACCAA 0.627000 OREG0014616 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 33 0 0 0.001984 0 0 WIPI2 26100 broad.mit.edu 37 7 5256236 5256236 + Missense_Mutation SNP A A G TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr7:5256236A>G ENST00000288828.4 + 5 656 c.424A>G c.(424-426)Att>Gtt p.I142V WIPI2_ENST00000404704.3_Missense_Mutation_p.I142V|WIPI2_ENST00000484262.1_Missense_Mutation_p.I83V|WIPI2_ENST00000401525.3_Missense_Mutation_p.I124V|WIPI2_ENST00000382384.2_Missense_Mutation_p.I124V NM_001033518.1|NM_001278299.1|NM_015610.3 NP_001028690.1|NP_001265228.1|NP_056425.1 Q9Y4P8 WIPI2_HUMAN WD repeat domain, phosphoinositide interacting 2 142 autophagic vacuole assembly cytosol|PAS complex|pre-autophagosomal structure membrane phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3) 16 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14) CATCCACAACATTCGGGACAT 0.517000 30 27 0 0 0.004289 0 0 CDH13 1012 broad.mit.edu 37 16 83711854 83711854 + Silent SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr16:83711854C>T ENST00000566620.1 + 10 1616 c.1326C>T c.(1324-1326)atC>atT p.I442I CDH13_ENST00000268613.10_Silent_p.I489I|CDH13_ENST00000428848.3_Silent_p.I403I NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4 NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1 P55290 CAD13_HUMAN cadherin 13 442 Cadherin 3. adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) CCCTGCTGATCAAAGTGGAAA 0.552000 16 17 0 0 0.003163 0 0 VWF 7450 broad.mit.edu 37 12 6231893 6231893 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr12:6231893C>T ENST00000572068.1 - 3 544 c.164G>A c.(163-165)aGa>aAa p.R55K VWF_ENST00000545906.1_5'UTR|VWF_ENST00000261405.5_Intron P04275 VWF_HUMAN von Willebrand factor 0 VWFD 1. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) agactgacctctgattttggc 0.512000 8 7 0 0 0.003080 0 0 LRRIQ4 344657 broad.mit.edu 37 3 169540625 169540625 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr3:169540625C>T ENST00000340806.6 + 1 916 c.916C>T c.(916-918)Cgc>Tgc p.R306C NM_001080460.1 NP_001073929.1 A6NIV6 LRIQ4_HUMAN leucine-rich repeats and IQ motif containing 4 306 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 GGTCAACTTGCGCTTCCTGGA 0.582000 7 9 0 0 0.003080 0 0 CXorf40B 541578 broad.mit.edu 37 X 149100870 149100870 + Silent SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chrX:149100870C>T ENST00000370406.3 - 5 1197 c.369G>A c.(367-369)gtG>gtA p.V123V CXorf40B_ENST00000355203.2_Silent_p.V123V|CXorf40B_ENST00000370404.1_Silent_p.V123V|CXorf40B_ENST00000462691.1_Silent_p.V123V Q96DE9 CX04B_HUMAN chromosome X open reading frame 40B 123 endometrium(1)|lung(4) 5 Acute lymphoblastic leukemia(192;6.56e-05) GGTTTGAAATCACAGTCAGGT 0.502000 37 103 0 0 0.002522 0 0 DGAT2L6 347516 broad.mit.edu 37 X 69419696 69419696 + Silent SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chrX:69419696C>T ENST00000333026.3 + 3 331 c.231C>T c.(229-231)acC>acT p.T77T NM_198512.1 NP_940914.1 Q6ZPD8 DG2L6_HUMAN diacylglycerol O-acyltransferase 2-like 6 77 lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1) 12 GAAACTGGACCCTATGGAAGT 0.552000 4 21 0 0 0.000602 0 0 GPR123 84435 broad.mit.edu 37 10 134912195 134912195 + Silent SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr10:134912195C>T ENST00000607359.1 + 13 2343 c.2343C>T c.(2341-2343)ttC>ttT p.F781F GPR123_ENST00000392607.3_Silent_p.F61F Q86SQ6 GP123_HUMAN G protein-coupled receptor 123 61 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3) 14 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) ATTTCTGCTTCCACGCGGCCC 0.652000 26 8 0 0 0.003954 0 0 FYN 2534 broad.mit.edu 37 6 112017611 112017611 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr6:112017611C>T ENST00000354650.3 - 10 1517 c.911G>A c.(910-912)gGc>gAc p.G304D FYN_ENST00000538466.1_Missense_Mutation_p.G301D|FYN_ENST00000368678.4_Missense_Mutation_p.G301D|FYN_ENST00000368667.2_Missense_Mutation_p.G304D|FYN_ENST00000368682.3_Missense_Mutation_p.G301D|FYN_ENST00000356013.2_Missense_Mutation_p.G249D|FYN_ENST00000476769.2_5'UTR|FYN_ENST00000229470.5_Missense_Mutation_p.G252D|FYN_ENST00000229471.4_Missense_Mutation_p.G249D NM_002037.5 NP_002028.1 P06241 FYN_HUMAN FYN oncogene related to SRC, FGR, YES 304 Protein kinase. axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|endosome|plasma membrane ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 30 all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211) all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102) Dasatinib(DB01254) GGACATTGTGCCTGGTTTAAG 0.458000 12 12 0 0 0.002450 0 0 NKAP 79576 broad.mit.edu 37 X 119070327 119070327 + Silent SNP C C T rs10577974 TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chrX:119070327C>T ENST00000371410.3 - 4 772 c.606G>A c.(604-606)tcG>tcA p.S202S NKAP_ENST00000477789.1_5'UTR NM_024528.3 NP_078804.2 Q8N5F7 NKAP_HUMAN NFKB activating protein 202 Lys-rich.|Necessary for interaction with CIR1. negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|protein binding breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1) 20 GTTTTCTTTTCGATGATTTTT 0.348000 27 45 0 0 0.007291 0 0 DNAH2 146754 broad.mit.edu 37 17 7708669 7708669 + Nonsense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr17:7708669C>T ENST00000572933.1 + 61 10860 c.9400C>T c.(9400-9402)Cga>Tga p.R3134* DNAH2_ENST00000389173.2_Nonsense_Mutation_p.R3134* Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 3134 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) TATGATTCTTCGAGGCAACGA 0.507000 8 33 0 0 0.004482 0 0 KIAA0513 9764 broad.mit.edu 37 16 85105471 85105471 + Nonsense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr16:85105471C>T ENST00000566428.1 + 3 1043 c.412C>T c.(412-414)Cga>Tga p.R138* KIAA0513_ENST00000538274.1_Nonsense_Mutation_p.R138*|KIAA0513_ENST00000258180.3_Nonsense_Mutation_p.R138*|KIAA0513_ENST00000567328.1_Nonsense_Mutation_p.R138* O60268 K0513_HUMAN KIAA0513 138 cytoplasm breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1) 18 BRCA - Breast invasive adenocarcinoma(80;0.234) GTGGTTTGCTCGATACGTGAG 0.453000 11 22 0 0 0.001368 0 0 TPM4 7171 broad.mit.edu 37 19 16178515 16178515 + Silent SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr19:16178515G>A ENST00000538887.1 + 1 168 c.81G>A c.(79-81)gcG>gcA p.A27A TPM4_ENST00000344824.6_Silent_p.A27A P67936 TPM4_HUMAN tropomyosin 4 152 cellular component movement|muscle filament sliding|response to oxidative stress cytosol|muscle thin filament tropomyosin|stress fiber actin binding|calcium ion binding|structural constituent of muscle p.A27A(1) TPM4/ALK(12) breast(1)|large_intestine(3) 4 AGGCGGAGGCGGATAAGAAAG 0.642000 T ALK ALCL 7 29 0 0 0.003080 0 0 NT5C1B 93034 broad.mit.edu 37 2 18766242 18766242 + Silent SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr2:18766242G>A ENST00000304081.4 - 4 361 c.261C>T c.(259-261)ctC>ctT p.L87L NT5C1B-RDH14_ENST00000532967.1_Silent_p.L147L|NT5C1B_ENST00000359846.2_Silent_p.L147L|NT5C1B_ENST00000460052.1_5'UTR|NT5C1B_ENST00000600945.1_Silent_p.L147L NM_033253.3 NP_150278.2 5'-nucleotidase, cytosolic IB endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) AGCTGCTGGGGAGCTGCAGCA 0.637000 4 17 0 0 0.000248 0 0 KIF1A 547 broad.mit.edu 37 2 241722494 241722494 + Silent SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr2:241722494G>A ENST00000498729.2 - 9 1077 c.831C>T c.(829-831)acC>acT p.T277T KIF1A_ENST00000320389.7_Silent_p.T277T NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 277 Kinesin-motor. anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) CCTTGCCCAGGGTGGTCAGCG 0.652000 12 44 0 0 0.001368 0 0 TRPM3 80036 broad.mit.edu 37 9 73164507 73164507 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr9:73164507C>T ENST00000377110.2 - 24 3865 c.3622G>A c.(3622-3624)Gat>Aat p.D1208N TRPM3_ENST00000377111.2_Missense_Mutation_p.D1208N|TRPM3_ENST00000396285.1_Missense_Mutation_p.D1067N|TRPM3_ENST00000360823.2_Missense_Mutation_p.D1070N|TRPM3_ENST00000377106.1_Missense_Mutation_p.D1080N|TRPM3_ENST00000423814.3_Missense_Mutation_p.D1235N|TRPM3_ENST00000377105.1_Missense_Mutation_p.D1067N|TRPM3_ENST00000408909.2_Missense_Mutation_p.D1067N|TRPM3_ENST00000396292.4_Missense_Mutation_p.D1080N|TRPM3_ENST00000396280.5_Missense_Mutation_p.D1057N|TRPM3_ENST00000357533.2_Missense_Mutation_p.D1212N|TRPM3_ENST00000358082.3_Missense_Mutation_p.D1070N NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 1233 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 TTGAACCGATCATCCTTTTCT 0.423000 8 47 0 0 0.003080 0 0 TTN 7273 broad.mit.edu 37 2 179611474 179611474 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr2:179611474C>T ENST00000360870.5 - 46 15875 c.15653G>A c.(15652-15654)cGa>cAa p.R5218Q TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 8737 Ig-like 32. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R5218Q(1) 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) AGATTTATTTCGATACCATTT 0.373000 14 25 0 0 0.001855 0 0 KCNK13 56659 broad.mit.edu 37 14 90651153 90651153 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr14:90651153G>A ENST00000282146.4 + 2 1474 c.1033G>A c.(1033-1035)Gag>Aag p.E345K NM_022054.2 NP_071337.2 Q9HB14 KCNKD_HUMAN potassium channel, subfamily K, member 13 345 integral to membrane potassium channel activity|voltage-gated ion channel activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4) 25 all_cancers(154;0.186) GCTCTCAGGGGAGATGATCTC 0.617000 19 41 0 0 0.006122 0 0 SPESP1 246777 broad.mit.edu 37 15 69223008 69223008 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr15:69223008C>T ENST00000310673.3 + 1 170 c.16C>T c.(16-18)Ctt>Ttt p.L6F NOX5_ENST00000455873.3_5'UTR|NOX5_ENST00000448182.3_5'UTR|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000260364.5_5'UTR|SPESP1_ENST00000560188.1_Intron NM_145658.3 NP_663633.1 Q6UW49 SPESP_HUMAN sperm equatorial segment protein 1 6 multicellular organismal development acrosomal vesicle breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1) 19 GCCCTTAGTCCTTCTAGTTGC 0.617000 47 79 0 0 0.003610 0 0 SPESP1 246777 broad.mit.edu 37 15 69223007 69223007 + Silent SNP C C T rs150328243 byFrequency TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr15:69223007C>T ENST00000310673.3 + 1 169 c.15C>T c.(13-15)gtC>gtT p.V5V NOX5_ENST00000455873.3_5'UTR|NOX5_ENST00000448182.3_5'UTR|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000260364.5_5'UTR|SPESP1_ENST00000560188.1_Intron NM_145658.3 NP_663633.1 Q6UW49 SPESP_HUMAN sperm equatorial segment protein 1 5 multicellular organismal development acrosomal vesicle breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1) 19 AGCCCTTAGTCCTTCTAGTTG 0.622000 48 82 0 0 0.003610 0 0 ZNF683 257101 broad.mit.edu 37 1 26691377 26691377 + Silent SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr1:26691377G>A ENST00000436292.1 - 4 780 c.660C>T c.(658-660)ctC>ctT p.L220L ZNF683_ENST00000403843.1_Silent_p.L220L|ZNF683_ENST00000374204.1_Silent_p.L220L|ZNF683_ENST00000349618.3_Silent_p.L220L Q8IZ20 ZN683_HUMAN zinc finger protein 683 220 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 15 all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233) GGGGCAGCATGAGGAGGTGGG 0.617000 27 33 0 0 0.007291 0 0 DRP2 1821 broad.mit.edu 37 X 100486727 100486727 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chrX:100486727C>T ENST00000395209.3 + 3 618 c.91C>T c.(91-93)Ctc>Ttc p.L31F DRP2_ENST00000538510.1_Missense_Mutation_p.L31F|DRP2_ENST00000402866.1_Missense_Mutation_p.L31F|DRP2_ENST00000541709.1_Intron NM_001939.2 NP_001930.2 Q13474 DRP2_HUMAN dystrophin related protein 2 31 central nervous system development cytoplasm|cytoskeleton zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 31 TAGCAGCAGCCTCCGAAGCAC 0.537000 24 64 0 0 0.004656 0 0 C12orf60 144608 broad.mit.edu 37 12 14976118 14976118 + Silent SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr12:14976118G>A ENST00000330828.2 + 2 453 c.249G>A c.(247-249)aaG>aaA p.K83K C12orf60_ENST00000527783.1_Intron NM_175874.3 NP_787070.2 Q5U649 CL060_HUMAN chromosome 12 open reading frame 60 83 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2) 9 AAATTCAAAAGGAGTCTTTAT 0.358000 17 49 0 0 0.004007 0 0 DUSP4 1846 broad.mit.edu 37 8 29194670 29194670 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr8:29194670C>T ENST00000240100.2 - 4 1447 c.1058G>A c.(1057-1059)cGg>cAg p.R353Q DUSP4_ENST00000240101.2_Missense_Mutation_p.R262Q NM_001394.6 NP_001385.1 Q13115 DUS4_HUMAN dual specificity phosphatase 4 353 Tyrosine-protein phosphatase. endoderm formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity endometrium(1)|large_intestine(1)|lung(4) 6 KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113) GGTCTTGCCCCGCTCCCGCAG 0.687000 5 8 0 0 0.001168 0 0 FGD5 152273 broad.mit.edu 37 3 14862703 14862703 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr3:14862703C>T ENST00000285046.5 + 1 2235 c.2125C>T c.(2125-2127)Cgg>Tgg p.R709W FGD5_ENST00000543601.1_Missense_Mutation_p.R468W NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 709 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 GCTTAAGTCTCGGACTGGGAA 0.557000 14 23 0 0 0.001855 0 0 GTF3C5 9328 broad.mit.edu 37 9 135927463 135927463 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr9:135927463C>T ENST00000372097.5 + 5 1108 c.785C>T c.(784-786)cCc>cTc p.P262L GTF3C5_ENST00000342018.8_Intron|GTF3C5_ENST00000372095.5_Missense_Mutation_p.P137L|GTF3C5_ENST00000372099.6_Missense_Mutation_p.P253L|GTF3C5_ENST00000372108.5_Missense_Mutation_p.P262L NM_012087.3 NP_036219.2 Q9Y5Q8 TF3C5_HUMAN general transcription factor IIIC, polypeptide 5, 63kDa 262 transcription factor TFIIIC complex DNA binding|protein binding endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1) 21 OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05) GACATCCGTCCCATCTGGTCC 0.567000 15 20 0 0 0.003163 0 0 NELFB 25920 broad.mit.edu 37 9 140161468 140161468 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr9:140161468G>A ENST00000343053.4 + 9 1505 c.1168G>A c.(1168-1170)Gat>Aat p.D390N NM_015456.3 NP_056271.2 negative elongation factor complex member B TTTCAATGTGGATCAGAAACT 0.552000 5 32 0 0 0.001168 0 0 HIAT1 64645 broad.mit.edu 37 1 100546081 100546081 + Nonsense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr1:100546081C>T ENST00000370152.3 + 11 1268 c.1132C>T c.(1132-1134)Cga>Tga p.R378* RP4-714D9.2_ENST00000432294.1_RNA NM_033055.2 NP_149044.2 Q96MC6 HIAT1_HUMAN hippocampus abundant transcript 1 378 transmembrane transport integral to membrane|plasma membrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1) 16 all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195) AACAGGAATTCGAGGATTATG 0.388000 31 60 0 0 0.001786 0 0 CHRNA3 1136 broad.mit.edu 37 15 78893932 78893932 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr15:78893932G>A ENST00000326828.5 - 5 1436 c.1052C>T c.(1051-1053)cCc>cTc p.P351L CHRNA3_ENST00000348639.3_Missense_Mutation_p.P351L NM_000743.4 NP_000734.2 P32297 ACHA3_HUMAN cholinergic receptor, nicotinic, alpha 3 (neuronal) 351 activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 CATGACCCTGGGGAGCAGGTT 0.552000 29 37 0 0 0.008361 0 0 PRICKLE2 166336 broad.mit.edu 37 3 64085191 64085191 + Nonsense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr3:64085191G>A ENST00000295902.6 - 8 2656 c.2071C>T c.(2071-2073)Cga>Tga p.R691* RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2_ENST00000564377.1_Nonsense_Mutation_p.R747* NM_198859.3 NP_942559.1 Q7Z3G6 PRIC2_HUMAN prickle homolog 2 (Drosophila) 691 Arg-rich. cytoplasm|nuclear membrane zinc ion binding breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1) 32 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) CGAGAGCGTCGGGAACGCCTG 0.632000 16 39 0 0 0.001523 0 0 SGMS1 259230 broad.mit.edu 37 10 52103615 52103615 + Missense_Mutation SNP A A T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr10:52103615A>T ENST00000361781.2 - 7 1219 c.260T>A c.(259-261)aTt>aAt p.I87N SGMS1_ENST00000429490.1_Intron|SGMS1_ENST00000361543.2_Missense_Mutation_p.I87N NM_147156.3 NP_671512.1 Q86VZ5 SMS1_HUMAN sphingomyelin synthase 1 93 apoptosis|cell growth|sphingomyelin biosynthetic process endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 GTCTACGCCAATGTTGAGGTG 0.512000 21 26 0 0 0.002780 0 0 NRXN1 9378 broad.mit.edu 37 2 50758484 50758484 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr2:50758484G>A ENST00000404971.1 - 12 3687 c.2348C>T c.(2347-2349)tCc>tTc p.S783F NRXN1_ENST00000401669.2_Missense_Mutation_p.S743F|NRXN1_ENST00000406859.3_Missense_Mutation_p.S743F|NRXN1_ENST00000406316.2_Missense_Mutation_p.S743F|NRXN1_ENST00000405472.3_Missense_Mutation_p.S735F|NRXN1_ENST00000402717.3_Missense_Mutation_p.S735F|NRXN1_ENST00000331040.5_5'UTR NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 743 Laminin G-like 4. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) GAACCGTAAGGAAACATCCTC 0.512000 4 15 0 0 0.000248 0 0 LRRC31 79782 broad.mit.edu 37 3 169557996 169557996 + Missense_Mutation SNP C C G TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr3:169557996C>G ENST00000316428.5 - 9 1490 c.1433G>C c.(1432-1434)cGg>cCg p.R478P LRRC31_ENST00000264676.5_Missense_Mutation_p.R422P|LRRC31_ENST00000523069.1_3'UTR NM_001277127.1|NM_024727.2 NP_001264056.1|NP_079003.2 Q6UY01 LRC31_HUMAN leucine rich repeat containing 31 478 cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 31 all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943) TTTGAGGAACCGCACGTTTTG 0.473000 23 37 0 0 0.003954 0 0 KCNQ5 56479 broad.mit.edu 37 6 73787061 73787061 + Silent SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr6:73787061C>T ENST00000342056.2 + 4 1031 c.633C>T c.(631-633)atC>atT p.I211I KCNQ5_ENST00000355194.4_Silent_p.I211I|KCNQ5_ENST00000402622.2_Silent_p.I211I|KCNQ5_ENST00000414165.2_Silent_p.I211I|KCNQ5_ENST00000403813.2_Silent_p.I211I|KCNQ5_ENST00000370392.1_Silent_p.I211I|KCNQ5_ENST00000370398.1_Silent_p.I211I|KCNQ5_ENST00000355635.3_Silent_p.I211I NM_001160132.1|NM_001160133.1 NP_001153604.1|NP_001153605.1 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 211 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) TTGTTCTTATCGCTTCAATAG 0.408000 15 12 0 0 0.006122 0 0 NOTCH4 4855 broad.mit.edu 37 6 32170339 32170339 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr6:32170339G>A ENST00000375023.3 - 21 3407 c.3269C>T c.(3268-3270)tCc>tTc p.S1090F NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 1090 EGF-like 28. cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 GAAGCCGCAGGAAGGGGCCCT 0.612000 101 107 0 0 0.003610 0 0 SDK1 221935 broad.mit.edu 37 7 4152926 4152926 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr7:4152926G>A ENST00000404826.2 + 24 3579 c.3440G>A c.(3439-3441)cGa>cAa p.R1147Q SDK1_ENST00000389531.3_Missense_Mutation_p.R1147Q NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 1147 Fibronectin type-III 5. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) TTTAGATTTCGAATGAAGCAA 0.537000 138 131 0 0 0.003610 0 0 ZNF732 654254 broad.mit.edu 37 4 266152 266152 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr4:266152C>T ENST00000419098.1 - 4 504 c.494G>A c.(493-495)gGa>gAa p.G165E NM_001137608.1 NP_001131080.1 B4DXR9 ZN732_HUMAN zinc finger protein 732 165 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|lung(2) 3 GTGTTTCTCTCCAGTATGTCT 0.358000 3 6 0 0 0.004672 0 0 INPP5J 27124 broad.mit.edu 37 22 31522677 31522677 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr22:31522677G>A ENST00000331075.5 + 4 1513 c.1464G>A c.(1462-1464)atG>atA p.M488I INPP5J_ENST00000405300.1_Missense_Mutation_p.M121I|INPP5J_ENST00000412277.2_Missense_Mutation_p.M421I|INPP5J_ENST00000400294.2_Missense_Mutation_p.M121I|INPP5J_ENST00000404390.3_Missense_Mutation_p.M120I Q15735 PI5PA_HUMAN inositol polyphosphate-5-phosphatase J 488 Catalytic (Potential). cytoplasm|ruffle inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1) 12 AGCTGTTCATGGATGCGCTAG 0.607000 31 85 0 0 0.003271 0 0 GCK 2645 broad.mit.edu 37 7 44189363 44189363 + Silent SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr7:44189363G>A ENST00000403799.3 - 6 1144 c.675C>T c.(673-675)atC>atT p.I225I GCK_ENST00000395796.3_Silent_p.I224I|GCK_ENST00000437084.1_Silent_p.I208I|GCK_ENST00000345378.2_Silent_p.I226I NM_000162.3 NP_000153.1 P35557 HXK4_HUMAN glucokinase (hexokinase 4) 225 cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport cytosol|nucleoplasm ATP binding|glucokinase activity|glucose binding|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 37 CCTTACCCACGATCATGCCGA 0.567000 150 167 0 0 0.003610 0 0 SCN1A 6323 broad.mit.edu 37 2 166911222 166911222 + Silent SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr2:166911222C>T ENST00000423058.2 - 4 545 c.528G>A c.(526-528)agG>agA p.R176R AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000375405.3_Silent_p.R176R|SCN1A_ENST00000409050.1_Silent_p.R176R|SCN1A_ENST00000303395.4_Silent_p.R176R NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 176 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) AACAGAATCCCCTTGCAATAA 0.323000 3 13 0 0 0.004672 0 0 EPN3 55040 broad.mit.edu 37 17 48614370 48614370 + Silent SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr17:48614370G>A ENST00000268933.3 + 2 1032 c.453G>A c.(451-453)aaG>aaA p.K151K EPN3_ENST00000541226.1_Silent_p.K95K|EPN3_ENST00000537145.1_Silent_p.K206K NM_017957.2 NP_060427.2 Q9H201 EPN3_HUMAN epsin 3 151 clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm lipid binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;2.88e-09) TCAAGACCAAGGAGCGCATGG 0.677000 6 3 0 0 0.001168 0 0 ZC3H13 23091 broad.mit.edu 37 13 46542938 46542938 + Silent SNP T T C TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr13:46542938T>C ENST00000242848.4 - 14 4089 c.3741A>G c.(3739-3741)agA>agG p.R1247R ZC3H13_ENST00000378921.2_Silent_p.R203R|ZC3H13_ENST00000282007.3_Silent_p.R1247R Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 1247 Ser-rich. nucleic acid binding|zinc ion binding cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) TCCTAGATTTTCTCTCTCCTG 0.413000 39 79 0 0 0.003214 0 0 INTS1 26173 broad.mit.edu 37 7 1517449 1517449 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr7:1517449G>A ENST00000389470.4 - 35 5350 c.5351C>T c.(5350-5352)tCc>tTc p.S1784F INTS1_ENST00000404767.3_Missense_Mutation_p.S1585F Q8N201 INT1_HUMAN integrator complex subunit 1 1585 snRNA processing integral to membrane|integrator complex|nuclear membrane autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 62 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) CAGCAGCAGGGAGCTCACCAC 0.687000 24 17 0 0 0.004656 0 0 RAD52 5893 broad.mit.edu 37 12 1034684 1034684 + Nonsense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr12:1034684C>T ENST00000545564.1 - 7 625 c.626G>A c.(625-627)tGg>tAg p.W209* RAD52_ENST00000536177.1_Missense_Mutation_p.G159R|RAD52_ENST00000430095.2_Missense_Mutation_p.G159R|RAD52_ENST00000358495.3_Missense_Mutation_p.G159R|RAD52_ENST00000539046.1_Missense_Mutation_p.G82R P43351 RAD52_HUMAN RAD52 homolog (S. cerevisiae) 0 DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination nucleoplasm DNA binding|protein binding p.G159W(1) central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987) OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323) AGTGCATTCCCAAAACTCCTA 0.388000 Homologous recombination 19 19 0 0 0.001523 0 0 FBXO9 26268 broad.mit.edu 37 6 52943611 52943611 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr6:52943611C>T ENST00000244426.6 + 4 524 c.352C>T c.(352-354)Cgt>Tgt p.R118C FBXO9_ENST00000323557.7_Missense_Mutation_p.R108C|FBXO9_ENST00000370939.3_Missense_Mutation_p.R74C NM_012347.4 NP_036479.1 Q9UK97 FBX9_HUMAN F-box protein 9 118 ubiquitin ligase complex ubiquitin-protein ligase activity kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1) 9 Lung NSC(77;0.103) CAAGTTTTATCGTAGGGCTAT 0.368000 17 35 0 0 0.008871 0 0 CPA4 51200 broad.mit.edu 37 7 129944388 129944388 + Missense_Mutation SNP C C G rs141042847 TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr7:129944388C>G ENST00000222482.4 + 5 483 c.455C>G c.(454-456)tCg>tGg p.S152W CPA4_ENST00000493259.1_Missense_Mutation_p.S48W|CPA4_ENST00000445470.2_Missense_Mutation_p.S119W NM_016352.3 NP_057436.2 Q9UI42 CBPA4_HUMAN carboxypeptidase A4 152 histone acetylation|proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding p.S152L(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Melanoma(18;0.0435) ATTGGACATTCGTTTGAAAAC 0.527000 17 54 0 0 0.008871 0 0 SLC8A1 6546 broad.mit.edu 37 2 40656466 40656466 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr2:40656466C>T ENST00000406785.1 - 2 1144 c.955G>A c.(955-957)Gat>Aat p.D319N SLC8A1_ENST00000542756.1_Missense_Mutation_p.D319N|SLC8A1_ENST00000542024.1_Missense_Mutation_p.D319N|SLC8A1_ENST00000408028.2_Missense_Mutation_p.D319N|SLC8A1_ENST00000405901.3_Missense_Mutation_p.D319N|SLC8A1_ENST00000405269.1_Missense_Mutation_p.D319N|SLC8A1_ENST00000403092.1_Missense_Mutation_p.D319N|SLC8A1_ENST00000402441.1_Missense_Mutation_p.D319N|SLC8A1_ENST00000332839.4_Missense_Mutation_p.D319N|SLC8A1_ENST00000406391.2_Missense_Mutation_p.D319N P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 319 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) GCTTCTTCATCATCTTGGTCC 0.398000 31 53 0 0 0.002445 0 0 DNAH2 146754 broad.mit.edu 37 17 7678115 7678115 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr17:7678115G>A ENST00000572933.1 + 29 6000 c.4540G>A c.(4540-4542)Gaa>Aaa p.E1514K DNAH2_ENST00000389173.2_Missense_Mutation_p.E1514K Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 1514 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) TACAATCCTGGAAGATATTCA 0.448000 10 29 0 0 0.000978 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 15 24 0 0 0.004990 0 0 RIMBP3 85376 broad.mit.edu 37 22 20458667 20458667 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr22:20458667C>T ENST00000426804.1 - 1 3119 c.2635G>A c.(2635-2637)Ggg>Agg p.G879R NM_015672.1 NP_056487.1 RIMS binding protein 3 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 13 Colorectal(54;0.0993)|Melanoma(16;0.165) LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224) TCAAGCTCCCCCTCATAGAAG 0.592000 4 11 0 0 0.000602 0 0 PCDHGA7 56108 broad.mit.edu 37 5 140764776 140764776 + Silent SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr5:140764776C>T ENST00000518325.1 + 1 2310 c.2310C>T c.(2308-2310)ttC>ttT p.F770F PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018920.2 NP_061743.1 NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCTGATCTTCCCCCAGCCCA 0.512000 38 38 0 0 0.003610 0 0 STAT4 6775 broad.mit.edu 37 2 191905853 191905853 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr2:191905853C>T ENST00000392320.2 - 15 1587 c.1273G>A c.(1273-1275)Gaa>Aaa p.E425K STAT4_ENST00000358470.4_Missense_Mutation_p.E425K|STAT4_ENST00000470708.1_5'UTR NM_003151.3 NP_003142.1 Q14765 STAT4_HUMAN signal transducer and activator of transcription 4 425 JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) GAATGAAGTTCTTCAGTCACC 0.363000 24 52 0 0 0.003954 0 0 NLRP7 199713 broad.mit.edu 37 19 55452999 55452999 + Silent SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr19:55452999G>A ENST00000446217.1 - 4 567 c.165C>T c.(163-165)tcC>tcT p.S55S NLRP7_ENST00000590030.1_Silent_p.S27S|NLRP7_ENST00000448121.2_Silent_p.S27S|NLRP7_ENST00000592784.1_Silent_p.S27S|NLRP7_ENST00000340844.2_Silent_p.S27S|NLRP7_ENST00000588756.1_Silent_p.S27S|NLRP7_ENST00000328092.5_Silent_p.S27S Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 27 DAPIN. ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) CCCATAAAAGGGATTTGAAAC 0.502000 10 27 0 0 0.000978 0 0 OR5T1 390155 broad.mit.edu 37 11 56043514 56043514 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr11:56043514C>T ENST00000313033.2 + 1 486 c.400C>T c.(400-402)Cgc>Tgc p.R134C NM_001004745.1 NP_001004745.1 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, member 1 134 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R134S(1) NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 43 Esophageal squamous(21;0.00448) GGCTTATGATCGCTATGTAGC 0.413000 26 102 0 0 0.003954 0 0 PIGO 84720 broad.mit.edu 37 9 35092421 35092421 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr9:35092421G>A ENST00000378617.3 - 7 1857 c.1463C>T c.(1462-1464)gCc>gTc p.A488V PIGO_ENST00000361778.2_Intron|PIGO_ENST00000341666.3_Missense_Mutation_p.A488V|PIGO_ENST00000298004.5_Intron NM_032634.3 NP_116023.2 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, class O 488 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3) 38 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) CAGGCCCCAGGCCACAGGTGT 0.562000 18 24 0 0 0.008871 0 0 DOPEY2 9980 broad.mit.edu 37 21 37623502 37623502 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr21:37623502G>A ENST00000399151.3 + 22 5126 c.5041G>A c.(5041-5043)Gcc>Acc p.A1681T NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 1681 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 CCCCTTGACGGCCCATCTTGG 0.413000 17 70 0 0 0.006122 0 0 PKDREJ 10343 broad.mit.edu 37 22 46655879 46655879 + Nonsense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr22:46655879C>T ENST00000253255.5 - 1 3340 c.3341G>A c.(3340-3342)tGg>tAg p.W1114* NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 1114 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) ACCCTCTCTCCATTCACTCTG 0.488000 16 40 0 0 0.006122 0 0 ZNF441 126068 broad.mit.edu 37 19 11892313 11892313 + Silent SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr19:11892313C>T ENST00000357901.4 + 4 1776 c.1674C>T c.(1672-1674)ccC>ccT p.P558P ZNF441_ENST00000454339.2_Silent_p.P491P NM_152355.2 NP_689568.2 Q8N8Z8 ZN441_HUMAN zinc finger protein 441 558 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GAGAGAAACCCTATGGTTGTC 0.413000 9 13 0 0 0.000978 0 0 MYH2 4620 broad.mit.edu 37 17 10430031 10430031 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr17:10430031C>T ENST00000245503.5 - 30 4456 c.4072G>A c.(4072-4074)Gaa>Aaa p.E1358K MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E1358K|CTC-297N7.7_ENST00000399342.2_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1358 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 GCCTTGGATTCCTGCTCCTCC 0.607000 37 29 0 0 0.006999 0 0 THSD7B 80731 broad.mit.edu 37 2 137852477 137852477 + Nonsense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr2:137852477C>T ENST00000409968.1 + 4 1163 c.985C>T c.(985-987)Cag>Tag p.Q329* THSD7B_ENST00000543459.1_Nonsense_Mutation_p.Q188*|THSD7B_ENST00000413152.2_Nonsense_Mutation_p.Q298*|THSD7B_ENST00000272643.3_Nonsense_Mutation_p.Q329* thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) ATTGACTGTTCAGTCCTGCAT 0.458000 7 99 0 0 0.004482 0 0 IPO5 3843 broad.mit.edu 37 13 98645159 98645159 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr13:98645159C>T ENST00000261574.5 + 10 917 c.737C>T c.(736-738)tCg>tTg p.S246L IPO5_ENST00000539640.1_Missense_Mutation_p.S103L|IPO5_ENST00000490680.1_Missense_Mutation_p.S228L NM_002271.4 NP_002262.3 O00410 IPO5_HUMAN importin 5 228 interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus cytoplasm|nuclear pore|nucleolus GTPase inhibitor activity|protein transporter activity|Ran GTPase binding breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 27 GTAAATGACTCGTGCTACCAG 0.408000 23 57 0 0 0.003330 0 0 DYNC1LI2 1783 broad.mit.edu 37 16 66770096 66770096 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr16:66770096G>A ENST00000258198.2 - 5 787 c.581C>T c.(580-582)tCc>tTc p.S194F DYNC1LI2_ENST00000379482.2_Intron|DYNC1LI2_ENST00000443351.2_Missense_Mutation_p.S117F|DYNC1LI2_ENST00000440564.2_Missense_Mutation_p.S155F NM_006141.2 NP_006132.1 O43237 DC1L2_HUMAN dynein, cytoplasmic 1, light intermediate chain 2 194 transport centrosome|cytoplasmic dynein complex|microtubule ATP binding|motor activity central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1) 15 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212) TCTCTGTGGGGAACCTTGACA 0.453000 16 34 0 0 0.003163 0 0 HSP90AB2P 391634 broad.mit.edu 37 4 13338177 13338177 + RNA SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr4:13338177C>T ENST00000602906.1 + 0 195 kidney(3)|lung(1) 4 TTGCCCAACTCATGTCTCTTA 0.418000 10 23 0 0 0.008291 0 0 DCC 1630 broad.mit.edu 37 18 50278518 50278518 + Silent SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr18:50278518C>T ENST00000442544.2 + 2 802 c.186C>T c.(184-186)tcC>tcT p.S62S NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 62 Ig-like C2-type 1. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TCGACTGCTCCGCGGAGTCCG 0.502000 15 13 0 0 0.003163 0 0 TRAV12-3 28672 broad.mit.edu 37 14 22434132 22434132 + RNA SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr14:22434132C>T ENST00000390442.3 + 0 241 AGACAGTATTCCAGAAAAGGC 0.448000 46 51 0 0 0.003610 0 0 LARP4 113251 broad.mit.edu 37 12 50860821 50860821 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr12:50860821C>T ENST00000398473.2 + 13 1575 c.1463C>T c.(1462-1464)cCt>cTt p.P488L LARP4_ENST00000347328.5_Missense_Mutation_p.P417L|LARP4_ENST00000429001.3_Missense_Mutation_p.P494L|LARP4_ENST00000293618.8_Missense_Mutation_p.P417L|LARP4_ENST00000518444.1_Missense_Mutation_p.P487L NM_052879.4|NM_199188.2 NP_443111.4|NP_954658.2 Q71RC2 LARP4_HUMAN La ribonucleoprotein domain family, member 4 488 nucleotide binding|RNA binding p.P488L(1) breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1) 23 CCACCTTTACCTGGAAGTTCA 0.383000 25 19 0 0 0.002780 0 0 PCDHB3 56132 broad.mit.edu 37 5 140480591 140480591 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr5:140480591G>A ENST00000231130.2 + 1 358 c.358G>A c.(358-360)Gag>Aag p.E120K AC005754.7_ENST00000607216.1_RNA NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 120 Cadherin 1. 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) CGTTACAAACGAGCTCCGTAT 0.418000 30 35 0 0 0.006320 0 0 TNFSF10 8743 broad.mit.edu 37 3 172224494 172224494 + Missense_Mutation SNP T T C TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr3:172224494T>C ENST00000241261.2 - 5 756 c.634A>G c.(634-636)Aaa>Gaa p.K212E TNFSF10_ENST00000420541.2_3'UTR NM_003810.3 NP_003801.1 P50591 TNF10_HUMAN tumor necrosis factor (ligand) superfamily, member 10 212 activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane|soluble fraction cytokine activity|metal ion binding|tumor necrosis factor receptor binding breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4) 15 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) CTTGTGTATTTGTAAATATAT 0.328000 31 38 0 0 0.001786 0 0 DNAH5 1767 broad.mit.edu 37 5 13753560 13753560 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr5:13753560C>T ENST00000265104.4 - 63 10758 c.10654G>A c.(10654-10656)Gcc>Acc p.A3552T NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3552 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) ATTTTCCGGGCTTTCATTTCC 0.408000 Kartagener syndrome 33 95 0 0 0.004289 0 0 GMPPA 29926 broad.mit.edu 37 2 220366281 220366281 + Silent SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr2:220366281G>A ENST00000358215.3 + 4 591 c.222G>A c.(220-222)caG>caA p.Q74Q AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373908.1_Silent_p.Q74Q|GMPPA_ENST00000373917.3_Silent_p.Q74Q|GMPPA_ENST00000341142.3_Silent_p.Q74Q|GMPPA_ENST00000313597.5_Silent_p.Q74Q NM_205847.2 NP_995319.1 Q96IJ6 GMPPA_HUMAN GDP-mannose pyrophosphorylase A 74 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine GTP binding|mannose-1-phosphate guanylyltransferase activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 20 Renal(207;0.0183) Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148) CCGCCCAGCAGGAGTTTAACC 0.547000 36 46 0 0 0.004878 0 0 RAB39B 116442 broad.mit.edu 37 X 154490183 154490183 + Nonsense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chrX:154490183G>A ENST00000369454.3 - 2 847 c.547C>T c.(547-549)Cag>Tag p.Q183* NM_171998.2 NP_741995.1 Q96DA2 RB39B_HUMAN RAB39B, member RAS oncogene family 183 protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport Golgi apparatus|plasma membrane GTP binding breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12) 19 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CAGCCCTCCTGGATTGTAATC 0.463000 29 56 0 0 0.006320 0 0 EPPK1 83481 broad.mit.edu 37 8 144940534 144940534 + Silent SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr8:144940534G>A ENST00000525985.1 - 2 6959 c.6888C>T c.(6886-6888)atC>atT p.I2296I P58107 EPIPL_HUMAN epiplakin 1 2296 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GCTTCTCCTGGATCTCGCCGC 0.701000 7 75 0 0 0.003080 0 0 WRN 7486 broad.mit.edu 37 8 30948414 30948414 + Silent SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr8:30948414C>T ENST00000298139.5 + 15 2034 c.1785C>T c.(1783-1785)atC>atT p.I595I NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 595 Helicase ATP-binding. 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) GCCTTGTTATCTCTCCCCTTA 0.353000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 12 52 0 0 0.003163 0 0 AP4M1 9179 broad.mit.edu 37 7 99704431 99704431 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr7:99704431C>T ENST00000429084.1 + 15 1467 c.1309C>T c.(1309-1311)Cca>Tca p.P437S AP4M1_ENST00000422582.1_Missense_Mutation_p.P302S|AP4M1_ENST00000421755.1_Missense_Mutation_p.P430S|AP4M1_ENST00000359593.4_Missense_Mutation_p.P430S O00189 AP4M1_HUMAN adaptor-related protein complex 4, mu 1 subunit 430 MHD. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|coated pit|Golgi trans cisterna transporter activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 17 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GGCCTTCAGGCCATGCGGCAA 0.647000 5 31 0 0 0.001168 0 0 C1orf56 54964 broad.mit.edu 37 1 151020995 151020995 + Silent SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr1:151020995G>A ENST00000368926.5 + 1 780 c.672G>A c.(670-672)ggG>ggA p.G224G NM_017860.3 NP_060330.2 Q9BUN1 CA056_HUMAN chromosome 1 open reading frame 56 224 extracellular region endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1) 7 Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GCCGGTCTGGGAAGCTGCACG 0.657000 OREG0013793 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 53 0 0 0.001882 0 0 NKG7 4818 broad.mit.edu 37 19 51875055 51875055 + Silent SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr19:51875055G>A ENST00000221978.5 - 4 653 c.474C>T c.(472-474)ccC>ccT p.P158P NKG7_ENST00000595217.1_3'UTR|NKG7_ENST00000600427.1_Silent_p.P78P NM_005601.3 NP_005592.1 Q16617 NKG7_HUMAN natural killer cell group 7 sequence 158 integral to plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 10 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) AGCCAGGACGGGGACCGCCAC 0.582000 27 119 0 0 0.002096 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54930841 54930841 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr3:54930841G>A ENST00000474759.1 + 26 2360 c.2312G>A c.(2311-2313)cGa>cAa p.R771Q CACNA2D3_ENST00000490478.1_Missense_Mutation_p.R677Q|CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.R771Q|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.R771Q NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 771 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) CTCTGGTACCGAAGAGCCGCT 0.522000 39 47 0 0 0.006230 0 0 NPAS4 266743 broad.mit.edu 37 11 66191325 66191325 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr11:66191325C>T ENST00000311034.2 + 7 1140 c.964C>T c.(964-966)Ctc>Ttc p.L322F NM_178864.3 NP_849195.2 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 322 transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 AGCCTGGAGCCTCCGCCAGCA 0.547000 23 53 0 0 0.003330 0 0 NEDD4L 23327 broad.mit.edu 37 18 56024451 56024451 + Silent SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr18:56024451C>T ENST00000456986.1 + 19 1971 c.1371C>T c.(1369-1371)gaC>gaT p.D457D NEDD4L_ENST00000586263.1_Silent_p.D550D|NEDD4L_ENST00000435432.2_Silent_p.D437D|NEDD4L_ENST00000431212.2_Silent_p.D457D|NEDD4L_ENST00000400345.3_Silent_p.D578D|NEDD4L_ENST00000456173.2_Silent_p.D437D|NEDD4L_ENST00000382850.4_Silent_p.D558D|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000256830.9_Silent_p.D474D|NEDD4L_ENST00000256832.7_Silent_p.D437D|NEDD4L_ENST00000356462.6_Silent_p.D514D|NEDD4L_ENST00000357895.5_Silent_p.D570D NM_001144964.1 NP_001138436.1 Q96PU5 NED4L_HUMAN neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase 578 cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis cytoplasm protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4) 37 AGTGGGAAGACCCAAGACTGC 0.328000 11 9 0 0 0.008291 0 0 ANO10 55129 broad.mit.edu 37 3 43602729 43602729 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr3:43602729C>T ENST00000292246.3 - 9 1629 c.1459G>A c.(1459-1461)Gaa>Aaa p.E487K ANO10_ENST00000350459.4_Missense_Mutation_p.E297K|ANO10_ENST00000396091.3_Missense_Mutation_p.E421K|ANO10_ENST00000414522.2_Missense_Mutation_p.E487K|ANO10_ENST00000451430.2_Missense_Mutation_p.E376K NM_018075.3 NP_060545.3 Q9NW15 ANO10_HUMAN anoctamin 10 487 cell death chloride channel complex chloride channel activity NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3) 29 GTTCCCATTTCTTTTTCCAGG 0.383000 25 38 0 0 0.007291 0 0 PGM5 5239 broad.mit.edu 37 9 71098840 71098840 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr9:71098840C>T ENST00000396396.1 + 9 1584 c.1355C>T c.(1354-1356)gCc>gTc p.A452V NM_021965.3 NP_068800.2 Q15124 PGM5_HUMAN phosphoglucomutase 5 452 cell adhesion|cellular calcium ion homeostasis|glucose metabolic process costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 34 GACCTGGAGGCCCTGGTCACA 0.507000 20 18 0 0 0.001882 0 0 NID2 22795 broad.mit.edu 37 14 52496283 52496283 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr14:52496283C>T ENST00000216286.5 - 10 2382 c.2383G>A c.(2383-2385)Gat>Aat p.D795N NID2_ENST00000541773.1_Missense_Mutation_p.D742N NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 795 EGF-like 2. basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) TTCCGTCCATCTCCCTGGTAC 0.527000 27 54 0 0 0.007291 0 0 ZNF385D 79750 broad.mit.edu 37 3 21465456 21465456 + Splice_Site SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr3:21465456C>T ENST00000281523.2 - 7 1471 c.954_splice c.e7+1 p.G318_splice NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 318 nucleus nucleic acid binding|zinc ion binding NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 GACACTCACCCCCAGTGGATG 0.458000 10 51 0 0 0.006214 0 0 AAMP 14 broad.mit.edu 37 2 219131697 219131697 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr2:219131697G>A ENST00000248450.4 - 4 577 c.407C>T c.(406-408)tCt>tTt p.S136F AAMP_ENST00000444053.1_Missense_Mutation_p.S137F|AAMP_ENST00000420660.1_Missense_Mutation_p.S117F Q13685 AAMP_HUMAN angio-associated, migratory cell protein 136 angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration cell surface|cytoplasm|plasma membrane heparin binding haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1) 11 Renal(207;0.0474) Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACAAGTCACAGAGTCTTTATG 0.507000 11 26 0 0 0.000978 0 0 FOLH1B 219595 broad.mit.edu 37 11 89431799 89431799 + RNA SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr11:89431799G>A ENST00000532352.1 + 0 2081 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 TATTGAATTTGTGTGGTATGT 0.328000 6 15 0 0 0.001168 0 0 VCAM1 7412 broad.mit.edu 37 1 101200183 101200183 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr1:101200183G>A ENST00000294728.2 + 8 2019 c.1918G>A c.(1918-1920)Gag>Aag p.E640K VCAM1_ENST00000370115.1_Missense_Mutation_p.E441K|VCAM1_ENST00000370119.4_Missense_Mutation_p.E578K|VCAM1_ENST00000347652.2_Missense_Mutation_p.E548K NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 640 Ig-like C2-type 7. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) GAAAAAAGCGGAGACAGGAGA 0.413000 8 14 0 0 0.004482 0 0 TIMP1 7076 broad.mit.edu 37 X 47444746 47444746 + Missense_Mutation SNP C C G TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chrX:47444746C>G ENST00000377018.2 + 3 679 c.115C>G c.(115-117)Cgc>Ggc p.R39G TIMP1_ENST00000218388.4_Intron|SYN1_ENST00000295987.7_Intron|SYN1_ENST00000340666.4_Intron|TIMP1_ENST00000456754.2_Missense_Mutation_p.P115R|TIMP1_ENST00000377017.1_Intron P01033 TIMP1_HUMAN TIMP metallopeptidase inhibitor 1 0 NTR. erythrocyte maturation|negative regulation of membrane protein ectodomain proteolysis|platelet activation|platelet degranulation|positive regulation of cell proliferation platelet alpha granule lumen metal ion binding|metalloendopeptidase inhibitor activity|protein binding endometrium(1)|large_intestine(2) 3 GCACCGTCCCCGCGCCCTGTG 0.647000 5 25 0 0 0.000602 0 0 FAT3 120114 broad.mit.edu 37 11 92085755 92085755 + Silent SNP A A C TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr11:92085755A>C ENST00000298047.6 + 1 494 c.477A>C c.(475-477)tcA>tcC p.S159S FAT3_ENST00000541502.1_Silent_p.S159S|FAT3_ENST00000409404.2_Silent_p.S159S|FAT3_ENST00000525166.1_Silent_p.S9S Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 159 Cadherin 2. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CTTTGTTTTCACCCACAACAT 0.413000 TCGA Ovarian(4;0.039) 125 176 0 0 0.003610 0 0 FAHD2A 51011 broad.mit.edu 37 2 96072778 96072778 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr2:96072778G>A ENST00000233379.4 + 3 488 c.335G>A c.(334-336)gGc>gAc p.G112D FAHD2A_ENST00000447036.1_Missense_Mutation_p.G112D NM_016044.2 NP_057128.2 Q96GK7 FAH2A_HUMAN fumarylacetoacetate hydrolase domain containing 2A 112 hydrolase activity|metal ion binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1) 8 GTGTGTGTGGGCATGAATTAT 0.567000 4 57 0 0 0.000602 0 0 ZNF100 163227 broad.mit.edu 37 19 21909497 21909497 + Silent SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr19:21909497G>A ENST00000358296.6 - 5 1815 c.1617C>T c.(1615-1617)acC>acT p.T539T ZNF100_ENST00000305570.6_Silent_p.T475T NM_173531.3 NP_775802.2 Q8IYN0 ZN100_HUMAN zinc finger protein 100 539 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1) 21 ACATTTGTAGGGTTTCTCTCC 0.368000 12 17 0 0 0.000978 0 0 EMD 2010 broad.mit.edu 37 X 153608118 153608118 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chrX:153608118C>T ENST00000369842.4 + 2 439 c.151C>T c.(151-153)Ccc>Tcc p.P51S EMD_ENST00000369835.3_Intron|EMD_ENST00000492448.1_3'UTR NM_000117.2 NP_000108.1 P50402 EMD_HUMAN emerin 51 Interaction with F-actin (Probable). cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane actin binding|beta-tubulin binding lung(5) 5 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GCTCTCGCCCCCCAGCTCGTC 0.672000 12 34 0 0 0.000978 0 0 SLC4A4 8671 broad.mit.edu 37 4 72413422 72413422 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr4:72413422G>A ENST00000340595.3 + 17 2743 c.2547G>A c.(2545-2547)atG>atA p.M849I SLC4A4_ENST00000264485.5_Missense_Mutation_p.M893I|SLC4A4_ENST00000351898.6_Intron|SLC4A4_ENST00000425175.1_Missense_Mutation_p.M893I NM_003759.3 NP_003750.1 Q9Y6R1 S4A4_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 4 893 basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) CAGTCTTTATGGCTCCCATCT 0.388000 28 58 0 0 0.008361 0 0 TRPC7 57113 broad.mit.edu 37 5 135692902 135692902 + Silent SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr5:135692902C>T ENST00000513104.1 - 2 456 c.174G>A c.(172-174)gtG>gtA p.V58V TRPC7_ENST00000355180.3_Silent_p.V58V|TRPC7_ENST00000426057.2_Silent_p.V58V NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 58 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TTTTCCGGACCACCGGGATGT 0.602000 25 77 0 0 0.007291 0 0 ZNF786 136051 broad.mit.edu 37 7 148769065 148769065 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr7:148769065G>A ENST00000316286.9 - 3 813 c.541C>T c.(541-543)Ccc>Tcc p.P181S ZNF786_ENST00000451334.3_Missense_Mutation_p.P230S|ZNF786_ENST00000491431.1_Missense_Mutation_p.P267S Q8N393 ZN786_HUMAN zinc finger protein 786 267 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2) 26 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) TTCCGGAAGGGGCCCCTCCCC 0.682000 7 11 0 0 0.003080 0 0 PREX2 80243 broad.mit.edu 37 8 68999972 68999972 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr8:68999972C>T ENST00000288368.4 + 19 2318 c.2041C>T c.(2041-2043)Cca>Tca p.P681S RP11-403D15.2_ENST00000526901.1_RNA|PREX2_ENST00000529398.1_3'UTR NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 681 PDZ 2. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 AGTGAAAATTCCAGATTCAGC 0.428000 17 50 0 0 0.001523 0 0 CEP89 84902 broad.mit.edu 37 19 33444550 33444550 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr19:33444550C>T ENST00000305768.4 - 4 551 c.463G>A c.(463-465)Gac>Aac p.D155N CEP89_ENST00000590597.1_Missense_Mutation_p.D155N NM_032816.3 NP_116205.3 Q96ST8 CEP89_HUMAN centrosomal protein 89kDa 155 centrosome|spindle pole breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 35 GCGTACAGGTCATCACTGTGG 0.488000 12 376 0 0 0.001523 0 0 CYP4F2 8529 broad.mit.edu 37 19 15990464 15990464 + Missense_Mutation SNP T T C TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr19:15990464T>C ENST00000221700.5 - 11 1359 c.1264A>G c.(1264-1266)Atc>Gtc p.I422V CYP4F2_ENST00000592328.1_Missense_Mutation_p.I422V NM_001082.3 NP_001073.3 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 2 422 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 AAAACACTGATGAGGCAGATA 0.597000 35 48 0 0 0.004878 0 0 TESPA1 9840 broad.mit.edu 37 12 55356694 55356694 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr12:55356694G>A ENST00000524622.1 - 7 1235 c.574C>T c.(574-576)Ctc>Ttc p.L192F TESPA1_ENST00000316577.8_Missense_Mutation_p.L330F|TESPA1_ENST00000531122.1_Missense_Mutation_p.L192F|TESPA1_ENST00000449076.1_Missense_Mutation_p.L330F|TESPA1_ENST00000532804.1_Missense_Mutation_p.L192F NM_001261844.1|NM_014796.2 NP_001248773.1|NP_055611.1 A2RU30 K0748_HUMAN thymocyte expressed, positive selection associated 1 330 TCTTGCTGGAGGAACTGCTTC 0.522000 5 22 0 0 0.001168 0 0 ITGB3 3690 broad.mit.edu 37 17 45360877 45360877 + Missense_Mutation SNP A A G TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr17:45360877A>G ENST00000559488.1 + 3 339 c.323A>G c.(322-324)cAa>cGa p.Q108R ITGB3_ENST00000571680.1_Missense_Mutation_p.Q108R|ITGB3_ENST00000560629.1_Silent_p.S96S|ITGB3_ENST00000435993.2_Missense_Mutation_p.Q61R NM_000212.2 NP_000203.2 P05106 ITB3_HUMAN integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) 108 activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 39 Abciximab(DB00054)|Tirofiban(DB00775) CAGGTCACTCAAGTCAGTCCC 0.612000 17 26 0 0 0.006122 0 0 CEACAM6 4680 broad.mit.edu 37 19 42270134 42270134 + Silent SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr19:42270134G>A ENST00000199764.6 + 5 1220 c.1002G>A c.(1000-1002)acG>acA p.T334T AC011513.4_ENST00000601409.1_RNA NM_002483.4 NP_002474.3 P40199 CEAM6_HUMAN carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) 334 cell-cell signaling|signal transduction anchored to membrane|integral to plasma membrane breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797) TCGGCATCACGATTGGAGTGC 0.522000 11 50 0 0 0.002450 0 0 RBP3 5949 broad.mit.edu 37 10 48390817 48390817 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr10:48390817G>A ENST00000224600.4 - 1 174 c.61C>T c.(61-63)Cac>Tac p.H21Y NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 21 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) TGGAACAGGTGTGTGGGGCCA 0.607000 14 21 0 0 0.002450 0 0 PALMD 54873 broad.mit.edu 37 1 100155218 100155218 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr1:100155218C>T ENST00000263174.4 + 7 1777 c.1402C>T c.(1402-1404)Ccc>Tcc p.P468S PALMD_ENST00000605497.1_Missense_Mutation_p.P468S NM_017734.4 NP_060204.1 Q9NP74 PALMD_HUMAN palmdelphin 468 regulation of cell shape cytoplasm|membrane central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2) 31 all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216) Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201) CCCCATAGCTCCCCATAGTCA 0.478000 6 7 0 0 0.001984 0 0 OR5M11 219487 broad.mit.edu 37 11 56310479 56310479 + Silent SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr11:56310479G>A ENST00000528616.2 - 1 278 c.255C>T c.(253-255)atC>atT p.I85I NM_001005245.1 NP_001005245.1 Q96RB7 OR5MB_HUMAN olfactory receptor, family 5, subfamily M, member 11 85 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14) 18 TCTCAGATACGATATTAGTCG 0.448000 22 28 0 0 0.001882 0 0 OR5T1 390155 broad.mit.edu 37 11 56044034 56044034 + Missense_Mutation SNP A A T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr11:56044034A>T ENST00000313033.2 + 1 1006 c.920A>T c.(919-921)aAa>aTa p.K307I NM_001004745.1 NP_001004745.1 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, member 1 307 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 43 Esophageal squamous(21;0.00448) TTGCGGAACAAAGATGTAAAG 0.348000 26 38 0 0 0.005443 0 0 TENM1 10178 broad.mit.edu 37 X 123657238 123657238 + Missense_Mutation SNP C C A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chrX:123657238C>A ENST00000422452.2 - 17 3072 c.3009G>T c.(3007-3009)agG>agT p.R1003S TENM1_ENST00000371130.3_Missense_Mutation_p.R1003S NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 CAATAGTTCCCCTCTCTGGAC 0.433000 30 56 1.39806e-14 4.31156e-14 0.008361 1 0 ZMAT1 84460 broad.mit.edu 37 X 101139525 101139525 + Missense_Mutation SNP T T G TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chrX:101139525T>G ENST00000458570.1 - 9 1691 c.361A>C c.(361-363)Aag>Cag p.K121Q ZMAT1_ENST00000540921.1_Missense_Mutation_p.K292Q|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000372782.3_Missense_Mutation_p.K292Q A7MD47 A7MD47_HUMAN zinc finger, matrin-type 1 121 nucleus zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 22 GGTAACTGCTTTTCCATTGCT 0.403000 27 103 0 0 0.006320 0 0 DRAM2 128338 broad.mit.edu 37 1 111660801 111660801 + Missense_Mutation SNP A A G TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr1:111660801A>G ENST00000286692.4 - 9 1399 c.782T>C c.(781-783)cTa>cCa p.L261P DRAM2_ENST00000539140.1_Missense_Mutation_p.L261P|DRAM2_ENST00000484310.1_5'UTR Q6UX65 DRAM2_HUMAN DNA-damage regulated autophagy modulator 2 261 apoptosis|induction of apoptosis Golgi apparatus|integral to membrane|lysosomal membrane endometrium(1)|large_intestine(5)|lung(3) 9 TCTGGAAAGTAGCCGTGTTCG 0.378000 20 39 0 0 0.001882 0 0 TGFBRAP1 9392 broad.mit.edu 37 2 105915055 105915055 + Missense_Mutation SNP C C G TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr2:105915055C>G ENST00000393359.2 - 3 1222 c.796G>C c.(796-798)Gaa>Caa p.E266Q TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.E266Q Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor associated protein 1 266 CNH. regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 31 GTGATGAATTCGTCATCGAGC 0.542000 25 66 0 0 0.007291 0 0 SPRY3 10251 broad.mit.edu 37 X 155004376 155004376 + Silent SNP C C A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chrX:155004376C>A ENST00000302805.2 + 2 1274 c.843C>A c.(841-843)ccC>ccA p.P281P NM_005840.1 NP_005831.1 O43610 SPY3_HUMAN sprouty homolog 3 (Drosophila) 281 multicellular organismal development|regulation of signal transduction cytoplasm|membrane all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CACCCTTCCCCAAGGCCCAGG 0.547000 28 42 3.73148e-12 1.14786e-11 0.007291 1 0 CCDC83 220047 broad.mit.edu 37 11 85576199 85576199 + Silent SNP T T C TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr11:85576199T>C ENST00000280245.4 + 2 545 c.33T>C c.(31-33)gaT>gaC p.D11D CCDC83_ENST00000342404.3_Silent_p.D11D|CCDC83_ENST00000376067.1_5'UTR NM_173556.3 NP_775827.2 Q8IWF9 CCD83_HUMAN coiled-coil domain containing 83 11 breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2) 29 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) ATAAAAAGGATACACATGACG 0.363000 20 61 0 0 0.002780 0 0 FSTL5 56884 broad.mit.edu 37 4 162841651 162841651 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr4:162841651C>T ENST00000306100.5 - 4 750 c.314G>A c.(313-315)gGa>gAa p.G105E FSTL5_ENST00000536695.1_Missense_Mutation_p.G104E|FSTL5_ENST00000427802.2_Missense_Mutation_p.G104E|FSTL5_ENST00000379164.4_Missense_Mutation_p.G104E NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 105 Kazal-like. extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) ATAGAATTCTCCGTCAGATCC 0.433000 14 21 0 0 0.001855 0 0 KIR3DL2 3812 broad.mit.edu 37 19 55378096 55378096 + Silent SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr19:55378096C>T ENST00000326321.3 + 9 1311 c.1278C>T c.(1276-1278)agC>agT p.S426S KIR3DL2_ENST00000270442.5_Silent_p.S409S|KIR3DL1_ENST00000402254.2_Silent_p.S426S NM_006737.3 NP_006728.2 P43630 KI3L2_HUMAN killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 426 cellular defense response|regulation of immune response integral to plasma membrane receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 23 GBM - Glioblastoma multiforme(193;0.0192) CAGATACCAGCGTGTACACGG 0.522000 78 101 0 0 0.003610 0 0 PCNX 22990 broad.mit.edu 37 14 71570253 71570253 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr14:71570253C>T ENST00000304743.2 + 32 6408 c.5962C>T c.(5962-5964)Cct>Tct p.P1988S PCNX_ENST00000439984.3_Missense_Mutation_p.P1877S|PCNX_ENST00000238570.5_Missense_Mutation_p.P1916S|PCNX_ENST00000556272.1_3'UTR NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 1988 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) TTGTGATCAACCTATTGGCTA 0.453000 20 59 0 0 0.002299 0 0 GALR1 2587 broad.mit.edu 37 18 74963119 74963119 + Silent SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr18:74963119C>T ENST00000299727.3 + 1 615 c.615C>T c.(613-615)ttC>ttT p.F205F NM_001480.3 NP_001471.2 P47211 GALR1_HUMAN galanin receptor 1 205 digestion|negative regulation of adenylate cyclase activity integral to membrane|plasma membrane galanin receptor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211) OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104) TGTGCACCTTCGTCTTCGGCT 0.687000 10 70 0 0 0.001368 0 0 ERAP2 64167 broad.mit.edu 37 5 96225001 96225001 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr5:96225001C>T ENST00000437043.3 + 5 1673 c.962C>T c.(961-963)tCc>tTc p.S321F ERAP2_ENST00000379904.4_Missense_Mutation_p.S276F|ERAP2_ENST00000510309.1_Missense_Mutation_p.S321F|CTD-2260A17.2_ENST00000501338.1_Intron NM_001130140.1|NM_022350.3 NP_001123612.1|NP_071745.1 Q6P179 ERAP2_HUMAN endoplasmic reticulum aminopeptidase 2 321 antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0703) TATCCACTCTCCAAACTGGGT 0.353000 20 46 0 0 0.001882 0 0 SLC22A6 9356 broad.mit.edu 37 11 62751836 62751836 + Nonsense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr11:62751836C>T ENST00000377871.3 - 1 593 c.327G>A c.(325-327)tgG>tgA p.W109* SLC22A6_ENST00000458333.2_Nonsense_Mutation_p.W109*|SLC22A6_ENST00000360421.4_Nonsense_Mutation_p.W109*|SLC22A6_ENST00000421062.2_Nonsense_Mutation_p.W109* NM_004790.4|NM_153278.2 NP_004781.2|NP_695010.1 Q4U2R8 S22A6_HUMAN solute carrier family 22 (organic anion transporter), member 6 109 alpha-ketoglutarate transport basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 TGTCATAGATCCAGCCATCGG 0.602000 16 49 0 0 0.004990 0 0 HAPLN1 1404 broad.mit.edu 37 5 82948574 82948574 + Missense_Mutation SNP A A T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr5:82948574A>T ENST00000274341.4 - 3 1020 c.170T>A c.(169-171)gTt>gAt p.V57D HAPLN1_ENST00000514416.1_Missense_Mutation_p.V57D NM_001884.3 NP_001875.1 P10915 HPLN1_HUMAN hyaluronan and proteoglycan link protein 1 57 Ig-like V-type. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1) 34 Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29) TGGCAGTGTAACATTGCCACC 0.398000 17 25 0 0 0.004990 0 0 HAPLN1 1404 broad.mit.edu 37 5 82948575 82948575 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr5:82948575C>T ENST00000274341.4 - 3 1019 c.169G>A c.(169-171)Gtt>Att p.V57I HAPLN1_ENST00000514416.1_Missense_Mutation_p.V57I NM_001884.3 NP_001875.1 P10915 HPLN1_HUMAN hyaluronan and proteoglycan link protein 1 57 Ig-like V-type. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1) 34 Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29) GGCAGTGTAACATTGCCACCT 0.393000 17 26 0 0 0.004990 0 0 TRMT44 152992 broad.mit.edu 37 4 8469649 8469649 + Silent SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr4:8469649C>T ENST00000389737.4 + 9 1503 c.1503C>T c.(1501-1503)ctC>ctT p.L501L TRMT44_ENST00000513449.2_Silent_p.L260L NM_152544.2 NP_689757.2 tRNA methyltransferase 44 homolog (S. cerevisiae) AGGTCTGTCTCGTTGGAAAAT 0.468000 5 50 0 0 0.001984 0 0 RASGRP3 25780 broad.mit.edu 37 2 33774770 33774770 + Silent SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr2:33774770G>A ENST00000403687.3 + 14 2234 c.1494G>A c.(1492-1494)caG>caA p.Q498Q RASGRP3_ENST00000402538.3_Silent_p.Q498Q|RASGRP3_ENST00000407811.1_Silent_p.Q497Q NM_001139488.1 NP_001132960.1 Q8IV61 GRP3_HUMAN RAS guanyl releasing protein 3 (calcium and DAG-regulated) 498 MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2) 11 all_hematologic(175;0.115) ATAATTTTCAGGAGATGACCT 0.403000 13 20 0 0 0.001368 0 0 ADPRHL1 113622 broad.mit.edu 37 13 114107564 114107564 + Silent SNP G G T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr13:114107564G>T ENST00000375418.3 - 1 275 c.189C>A c.(187-189)atC>atA p.I63I NM_138430.3 NP_612439.2 Q8NDY3 ARHL1_HUMAN ADP-ribosylhydrolase like 1 63 protein de-ADP-ribosylation ADP-ribosylarginine hydrolase activity|magnesium ion binding endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1) 11 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116) CGGCGGTTGCGATGTGCATGA 0.642000 13 37 4.7546e-09 1.45888e-08 0.004007 1 0 PCDHA9 9752 broad.mit.edu 37 5 140229320 140229320 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr5:140229320G>A ENST00000378122.3 + 1 1964 c.1240G>A c.(1240-1242)Gac>Aac p.D414N PCDHA9_ENST00000532602.1_Missense_Mutation_p.D414N|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGAGCTCTGGACCGCGAGAG 0.642000 14 69 0 0 0.004007 0 0 UNC5C 8633 broad.mit.edu 37 4 96222867 96222867 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr4:96222867G>A ENST00000453304.1 - 3 728 c.380C>T c.(379-381)tCg>tTg p.S127L UNC5C_ENST00000506749.1_Missense_Mutation_p.S127L|UNC5C_ENST00000504962.1_Missense_Mutation_p.S127L NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 127 Ig-like. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) TTGCTGGCGCGAAATCTCAAT 0.463000 12 19 0 0 0.001368 0 0 PREPL 9581 broad.mit.edu 37 2 44570899 44570899 + Missense_Mutation SNP T T C TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr2:44570899T>C ENST00000541738.1 - 4 720 c.334A>G c.(334-336)Aat>Gat p.N112D PREPL_ENST00000409272.1_Missense_Mutation_p.N201D|PREPL_ENST00000409957.1_Missense_Mutation_p.N112D|PREPL_ENST00000410081.1_Missense_Mutation_p.N201D|PREPL_ENST00000409936.1_Missense_Mutation_p.N201D|PREPL_ENST00000409411.1_Missense_Mutation_p.N112D|PREPL_ENST00000378511.3_Missense_Mutation_p.N201D|PREPL_ENST00000378520.3_Missense_Mutation_p.N201D|PREPL_ENST00000260648.6_Missense_Mutation_p.N201D NM_001171617.1 NP_001165088.1 Q4J6C6 PPCEL_HUMAN prolyl endopeptidase-like 201 proteolysis cytosol serine-type endopeptidase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2) 33 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CTGGACACATTCGGGAAAGAA 0.423000 13 56 0 0 0.004007 0 0 ANKRD30BL 554226 broad.mit.edu 37 2 132905758 132905758 + Silent SNP C C T rs62165773 by1000genomes TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr2:132905758C>T ENST00000409867.1 - 6 972 c.723G>A c.(721-723)gcG>gcA p.A241A ANKRD30BL_ENST00000470729.1_5'UTR ankyrin repeat domain 30B-like endometrium(1)|kidney(3) 4 GTGTTCTTTCCGCCAAGGGTG 0.438000 5 21 0 0 0.001168 0 0 LELP1 149018 broad.mit.edu 37 1 153177316 153177316 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr1:153177316G>A ENST00000368747.1 + 2 243 c.133G>A c.(133-135)Gaa>Aaa p.E45K NM_001010857.1 NP_001010857.1 Q5T871 LELP1_HUMAN late cornified envelope-like proline-rich 1 45 Cys/Pro-rich. NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1) 19 all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) ACGCTGTTTCGAAAAGTGCCC 0.572000 19 49 0 0 0.002299 0 0 BRCA2 675 broad.mit.edu 37 13 32906615 32906615 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr13:32906615C>T ENST00000544455.1 + 10 1227 c.1000C>T c.(1000-1002)Cat>Tat p.H334Y BRCA2_ENST00000380152.3_Missense_Mutation_p.H334Y NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 334 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) AAAAATTTTCCATGAAGCAAA 0.294000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 35 75 0 0 0.002836 0 0 OR2T33 391195 broad.mit.edu 37 1 248436229 248436229 + Silent SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr1:248436229C>T ENST00000318021.2 - 1 909 c.888G>A c.(886-888)aaG>aaA p.K296K NM_001004695.1 NP_001004695.1 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, member 33 296 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4) 67 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TCAGGGCTCCCTTCACCTCAC 0.458000 38 63 0 0 0.002222 0 0 MXRA5 25878 broad.mit.edu 37 X 3239265 3239265 + Silent SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chrX:3239265C>T ENST00000217939.6 - 5 4615 c.4461G>A c.(4459-4461)cgG>cgA p.R1487R NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1487 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) GCTCCTTCATCCGGGCAGCAG 0.498000 12 54 0 0 0.000978 0 0 SPRY3 10251 broad.mit.edu 37 X 155004375 155004375 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chrX:155004375C>T ENST00000302805.2 + 2 1273 c.842C>T c.(841-843)cCc>cTc p.P281L NM_005840.1 NP_005831.1 O43610 SPY3_HUMAN sprouty homolog 3 (Drosophila) 281 multicellular organismal development|regulation of signal transduction cytoplasm|membrane all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) GCACCCTTCCCCAAGGCCCAG 0.542000 28 42 0 0 0.008361 0 0 FLT1 2321 broad.mit.edu 37 13 29004200 29004200 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr13:29004200G>A ENST00000282397.4 - 8 1344 c.1093C>T c.(1093-1095)Ccg>Tcg p.P365S FLT1_ENST00000539099.1_Missense_Mutation_p.P365S|FLT1_ENST00000541932.1_Missense_Mutation_p.P365S NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 365 Ig-like C2-type 4. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) ACAACTTCCGGCGAGGGAAAT 0.453000 25 53 0 0 0.006320 0 0 ADAD2 161931 broad.mit.edu 37 16 84230550 84230550 + Silent SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr16:84230550G>A ENST00000268624.3 + 11 2061 c.1968G>A c.(1966-1968)tcG>tcA p.S656S RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|ADAD2_ENST00000315906.5_Silent_p.S574S|RP11-486L19.2_ENST00000565643.1_RNA NM_139174.3 NP_631913.3 Q8NCV1 ADAD2_HUMAN adenosine deaminase domain containing 2 574 RNA processing intracellular adenosine deaminase activity|double-stranded RNA binding NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1) 13 CTTGGCCCTCGAAGCCACTGG 0.667000 8 8 0 0 0.000978 0 0 GNL3 26354 broad.mit.edu 37 3 52724988 52724988 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr3:52724988C>T ENST00000394799.2 + 8 856 c.646C>T c.(646-648)Cca>Tca p.P216S GNL3_ENST00000418458.1_Missense_Mutation_p.P228S NM_206825.1 NP_996561.1 Q9BVP2 GNL3_HUMAN guanine nucleotide binding protein-like 3 (nucleolar) 228 regulation of cell proliferation nucleolus GTP binding|protein binding breast(4)|endometrium(3)|large_intestine(3)|lung(2) 12 BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048) GAATGCTGCTCCATTCAGAAG 0.423000 20 29 0 0 0.001523 0 0 DMXL1 1657 broad.mit.edu 37 5 118513857 118513857 + Silent SNP A A G TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr5:118513857A>G ENST00000311085.8 + 28 7133 c.7053A>G c.(7051-7053)ctA>ctG p.L2351L DMXL1_ENST00000539542.1_Silent_p.L2351L NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 2351 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) CCCATCCTCTAAATGAGAAAA 0.418000 18 55 0 0 0.006122 0 0 GNL3 26354 broad.mit.edu 37 3 52724989 52724989 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr3:52724989C>T ENST00000394799.2 + 8 857 c.647C>T c.(646-648)cCa>cTa p.P216L GNL3_ENST00000418458.1_Missense_Mutation_p.P228L NM_206825.1 NP_996561.1 Q9BVP2 GNL3_HUMAN guanine nucleotide binding protein-like 3 (nucleolar) 228 regulation of cell proliferation nucleolus GTP binding|protein binding breast(4)|endometrium(3)|large_intestine(3)|lung(2) 12 BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048) AATGCTGCTCCATTCAGAAGT 0.423000 19 31 0 0 0.008871 0 0 SFRP2 6423 broad.mit.edu 37 4 154709489 154709489 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr4:154709489C>T ENST00000274063.4 - 1 783 c.499G>A c.(499-501)Gaa>Aaa p.E167K NM_003013.2 NP_003004.1 Q96HF1 SFRP2_HUMAN secreted frizzled-related protein 2 167 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) GGCTTACCTTCCTCGGTGGCT 0.652000 17 22 0 0 0.006122 0 0 NEDD4L 23327 broad.mit.edu 37 18 56024452 56024452 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr18:56024452C>T ENST00000456986.1 + 19 1972 c.1372C>T c.(1372-1374)Cca>Tca p.P458S NEDD4L_ENST00000586263.1_Missense_Mutation_p.P551S|NEDD4L_ENST00000435432.2_Missense_Mutation_p.P438S|NEDD4L_ENST00000431212.2_Missense_Mutation_p.P458S|NEDD4L_ENST00000400345.3_Missense_Mutation_p.P579S|NEDD4L_ENST00000456173.2_Missense_Mutation_p.P438S|NEDD4L_ENST00000382850.4_Missense_Mutation_p.P559S|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000256830.9_Missense_Mutation_p.P475S|NEDD4L_ENST00000256832.7_Missense_Mutation_p.P438S|NEDD4L_ENST00000356462.6_Missense_Mutation_p.P515S|NEDD4L_ENST00000357895.5_Missense_Mutation_p.P571S NM_001144964.1 NP_001138436.1 Q96PU5 NED4L_HUMAN neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase 579 cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis cytoplasm protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4) 37 GTGGGAAGACCCAAGACTGCA 0.328000 11 10 0 0 0.008291 0 0 KIF1A 547 broad.mit.edu 37 2 241722495 241722495 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr2:241722495G>A ENST00000498729.2 - 9 1076 c.830C>T c.(829-831)aCc>aTc p.T277I KIF1A_ENST00000320389.7_Missense_Mutation_p.T277I NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 277 Kinesin-motor. anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) CTTGCCCAGGGTGGTCAGCGA 0.657000 13 43 0 0 0.001855 0 0 FBXO21 23014 broad.mit.edu 37 12 117603355 117603355 + Missense_Mutation SNP C C G TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr12:117603355C>G ENST00000427718.2 - 9 1335 c.1261G>C c.(1261-1263)Gac>Cac p.D421H FBXO21_ENST00000330622.5_Missense_Mutation_p.D421H NM_015002.2|NM_033624.2 NP_055817.1|NP_296373.1 O94952 FBX21_HUMAN F-box protein 21 421 ubiquitin-dependent protein catabolic process ubiquitin ligase complex ubiquitin-protein ligase activity breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 29 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0291) TGCACCTGGTCCGGGTACATT 0.493000 19 37 0 0 0.007413 0 0 BCL6 604 broad.mit.edu 37 3 187449569 187449569 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr3:187449569G>A ENST00000406870.2 - 4 677 c.311C>T c.(310-312)gCt>gTt p.A104V BCL6_ENST00000232014.4_Missense_Mutation_p.A104V|RP11-211G3.3_ENST00000449623.1_Intron|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.A104V NM_001706.4 NP_001697.2 P41182 BCL6_HUMAN B-cell CLL/lymphoma 6 104 negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 40 all_cancers(143;9.45e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0141) GGCCATCACAGCCATGATGTT 0.527000 """T, Mis""" """IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R, POU2AF1, ARHH, EIF4A2, SFRS3""" """NHL, CLL""" 29 37 0 0 0.002836 0 0 CA14 23632 broad.mit.edu 37 1 150235484 150235484 + Silent SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr1:150235484C>T ENST00000369111.4 + 7 1576 c.606C>T c.(604-606)ctC>ctT p.L202L NM_012113.1 NP_036245.1 Q9ULX7 CAH14_HUMAN carbonic anhydrase XIV 202 integral to membrane carbonate dehydratase activity|metal ion binding central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2) 18 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) GAGAGCTGCTCCCCAAACAGC 0.522000 23 36 0 0 0.002299 0 0 ASIC5 51802 broad.mit.edu 37 4 156784842 156784842 + Silent SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr4:156784842C>T ENST00000537611.2 - 2 151 c.105G>A c.(103-105)aaG>aaA p.K35K TDO2_ENST00000506181.1_Intron NM_017419.2 NP_059115.1 Q9NY37 ACCN5_HUMAN acid-sensing (proton-gated) ion channel family member 5 35 integral to membrane|plasma membrane GGTCAAACTTCTTTCGCTCAG 0.418000 14 48 0 0 0.003163 0 0 CFTR 1080 broad.mit.edu 37 7 117199600 117199600 + Missense_Mutation SNP C C T rs121909017 TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr7:117199600C>T ENST00000003084.6 + 11 1607 c.1475C>T c.(1474-1476)tCt>tTt p.S492F CFTR_ENST00000454343.1_Missense_Mutation_p.S431F NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 492 ABC transporter 1. S -> F (in CF). respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) TCATTCTGTTCTCAGTTTTCC 0.383000 Cystic Fibrosis 30 26 0 0 0.002445 0 0 S100A13 6284 broad.mit.edu 37 1 153591502 153591502 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr1:153591502G>A ENST00000368699.1 - 5 669 c.166C>T c.(166-168)Ctt>Ttt p.L56F S100A13_ENST00000339556.4_Missense_Mutation_p.L56F|S100A13_ENST00000491177.1_5'UTR|S100A13_ENST00000440685.2_Missense_Mutation_p.L56F|S100A13_ENST00000392622.1_Missense_Mutation_p.L56F|S100A13_ENST00000392623.1_Missense_Mutation_p.L56F NM_001024210.1 NP_001019381.1 Q99584 S10AD_HUMAN S100 calcium binding protein A13 56 interleukin-1 alpha secretion|mast cell degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade cytosol|extracellular space|nucleus|perinuclear region of cytoplasm calcium ion binding|copper ion binding|fibroblast growth factor 1 binding|lipid binding|protein homodimerization activity|RAGE receptor binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(4) 7 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) Amlexanox(DB01025) TTCTCATCAAGAGAGCCCACA 0.483000 39 79 0 0 0.008740 0 0 BTBD11 121551 broad.mit.edu 37 12 108013885 108013885 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr12:108013885G>A ENST00000280758.5 + 11 3103 c.2575G>A c.(2575-2577)Gag>Aag p.E859K BTBD11_ENST00000357167.4_Missense_Mutation_p.E396K|BTBD11_ENST00000490090.2_Missense_Mutation_p.E859K|BTBD11_ENST00000420571.2_Missense_Mutation_p.E740K NM_001018072.1 NP_001018082.1 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 859 integral to membrane DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 GGAATACACGGAGGAGCTCGT 0.532000 18 24 0 0 0.001882 0 0 CLCA4 22802 broad.mit.edu 37 1 87045258 87045258 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr1:87045258G>A ENST00000370563.3 + 13 2386 c.2344G>A c.(2344-2346)Gat>Aat p.D782N RP4-651E10.4_ENST00000456587.1_RNA NM_012128.3 NP_036260.2 Q14CN2 CLCA4_HUMAN chloride channel accessory 4 782 apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) AGATAATTTTGATGTTGGAAA 0.428000 7 35 0 0 0.003080 0 0 SSTR3 6753 broad.mit.edu 37 22 37603295 37603295 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr22:37603295C>T ENST00000328544.3 - 2 1081 c.548G>A c.(547-549)gGa>gAa p.G183E SSTR3_ENST00000402501.1_Missense_Mutation_p.G183E NM_001051.3 NP_001042.1 P32745 SSR3_HUMAN somatostatin receptor 3 183 G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation integral to plasma membrane|nonmotile primary cilium somatostatin receptor activity NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1) 14 GCGGGGCACTCCCGAGAAGAC 0.726000 5 8 0 0 0.001984 0 0 PCDHA13 56136 broad.mit.edu 37 5 140262587 140262587 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr5:140262587C>T ENST00000289272.2 + 1 734 c.734C>T c.(733-735)tCc>tTc p.S245F PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.S245F|PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTTTACCAATCCGTTTATAAA 0.458000 5 39 0 0 0.001168 0 0 IGHV4-31 28396 broad.mit.edu 37 14 106805642 106805642 + RNA SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr14:106805642C>T ENST00000438142.2 - 0 74 ACAGGTGTTTCATGTTCTTGC 0.522000 14 55 0 0 0.007413 0 0 PRAMEF7 441871 broad.mit.edu 37 1 12979749 12979749 + Missense_Mutation SNP G G T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr1:12979749G>T ENST00000361079.2 + 4 1024 c.941G>T c.(940-942)tGg>tTg p.W314L PRAME family member 7 endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2) 18 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CATCTCTCTTGGTGCCCGAGC 0.562000 16 118 1.87028e-06 5.70978e-06 0.001882 1 0 ATP7A 538 broad.mit.edu 37 X 77243950 77243950 + Silent SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chrX:77243950G>A ENST00000341514.6 + 3 488 c.333G>A c.(331-333)aaG>aaA p.K111K ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Silent_p.K111K NM_000052.5 NP_000043.3 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 111 ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1) 53 TGAAGACCAAGGGTGTGACAG 0.438000 58 286 0 0 0.003610 0 0 CT62 196993 broad.mit.edu 37 15 71403676 71403676 + Silent SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr15:71403676C>T ENST00000449977.2 - 4 731 c.225G>A c.(223-225)aaG>aaA p.K75K THSD4_ENST00000355327.3_Intron|CT62_ENST00000566432.1_3'UTR|RP11-673C5.4_ENST00000564862.1_RNA NM_001102658.1 NP_001096128.1 P0C5K7 CT62_HUMAN cancer/testis antigen 62 75 NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2) 6 AGAATTTTCTCTTGCCCAGTT 0.522000 12 29 0 0 0.001855 0 0 DNAH9 1770 broad.mit.edu 37 17 11650910 11650910 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr17:11650910C>T ENST00000262442.3 + 32 6505 c.6437C>T c.(6436-6438)tCt>tTt p.S2146F DNAH9_ENST00000454412.2_Missense_Mutation_p.S2146F NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2146 AAA 2 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GTGCGGCACTCTGTATTTGTG 0.597000 11 18 0 0 0.002450 0 0 CDKAL1 54901 broad.mit.edu 37 6 21201483 21201483 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr6:21201483G>A ENST00000274695.4 + 15 1693 c.1526G>A c.(1525-1527)gGa>gAa p.G509E CDKAL1_ENST00000476517.1_3'UTR|CDKAL1_ENST00000378624.4_Missense_Mutation_p.G418E|CDKAL1_ENST00000378610.1_Missense_Mutation_p.G509E NM_017774.3 NP_060244.2 Q5VV42 CDKAL_HUMAN CDK5 regulatory subunit associated protein 1-like 1 509 RNA modification integral to membrane 4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1) 29 all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227) OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248) CTAGCAAAGGGAGAAGTCTCG 0.468000 64 166 0 0 0.003610 0 0 ABCA2 20 broad.mit.edu 37 9 139910781 139910781 + Silent SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr9:139910781G>A ENST00000265662.5 - 21 3213 c.3066C>T c.(3064-3066)tcC>tcT p.S1022S ABCA2_ENST00000371605.3_Silent_p.S1021S|ABCA2_ENST00000341511.6_Silent_p.S1022S Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 1021 ABC transporter 1. cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) GGCCCAAGAAGGAGACCACCT 0.597000 6 17 0 0 0.001984 0 0 TSHB 7252 broad.mit.edu 37 1 115576094 115576094 + Silent SNP T T C TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr1:115576094T>C ENST00000256592.1 + 2 179 c.111T>C c.(109-111)gcT>gcC p.A37A TSHB_ENST00000369517.1_Silent_p.A37A NM_000549.3|NM_001277991.1 NP_000540.2|NP_001264920.1 P01222 TSHB_HUMAN thyroid stimulating hormone, beta 37 anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|G-protein coupled receptor protein signaling pathway|hormone biosynthetic process|peptide hormone processing extracellular region hormone activity breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 7 Lung SC(450;0.211) all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) GAGAGTGTGCTTATTGCCTAA 0.413000 30 32 0 0 0.002445 0 0 RAD54L2 23132 broad.mit.edu 37 3 51696606 51696606 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr3:51696606C>T ENST00000409535.1 + 22 3699 c.3574C>T c.(3574-3576)Cgt>Tgt p.R1192C RAD54L2_ENST00000296477.3_Missense_Mutation_p.R886C NM_015106.2 NP_055921.2 Q9Y4B4 ARIP4_HUMAN RAD54-like 2 (S. cerevisiae) 1192 nucleus ATP binding|DNA binding|helicase activity NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2) 31 BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896) CCGGGAATCCCGTCAGAGCTC 0.652000 14 27 0 0 0.001855 0 0 MAPKAP1 79109 broad.mit.edu 37 9 128347848 128347848 + Silent SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr9:128347848C>T ENST00000265960.3 - 5 989 c.657G>A c.(655-657)cgG>cgA p.R219R MAPKAP1_ENST00000373511.2_Silent_p.R219R|MAPKAP1_ENST00000373497.5_Silent_p.R27R|MAPKAP1_ENST00000394060.3_Silent_p.R219R|MAPKAP1_ENST00000373503.3_Silent_p.R27R|MAPKAP1_ENST00000394063.1_Silent_p.R27R|MAPKAP1_ENST00000373498.1_Silent_p.R219R|MAPKAP1_ENST00000350766.3_Silent_p.R219R NM_001006617.1 NP_001006618.1 Q9BPZ7 SIN1_HUMAN mitogen-activated protein kinase associated protein 1 219 nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane Ras GTPase binding endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3) 23 GCTTCGGCTCCCGTCCTTCGC 0.542000 10 38 0 0 0.001368 0 0 TPTE 7179 broad.mit.edu 37 21 10933870 10933870 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr21:10933870G>A ENST00000298232.7 - 16 1322 c.955C>T c.(955-957)Cac>Tac p.H319Y TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.H299Y|TPTE_ENST00000361285.4_Missense_Mutation_p.H337Y NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 337 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CCTTTACAGTGAATCGCTACG 0.328000 36 229 0 0 0.004289 0 0 SOX5 6660 broad.mit.edu 37 12 23818467 23818467 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr12:23818467G>A ENST00000546136.1 - 6 805 c.803C>T c.(802-804)cCc>cTc p.P268L SOX5_ENST00000451604.2_Missense_Mutation_p.P281L|SOX5_ENST00000545921.1_Missense_Mutation_p.P271L|SOX5_ENST00000309359.1_Missense_Mutation_p.P268L|SOX5_ENST00000381381.2_Missense_Mutation_p.P268L|SOX5_ENST00000537393.1_Missense_Mutation_p.P246L|SOX5_ENST00000541536.1_Missense_Mutation_p.P268L P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 281 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3) 57 AGGGAATACGGGAATCATTAA 0.512000 40 47 0 0 0.002852 0 0 RFX6 222546 broad.mit.edu 37 6 117245850 117245850 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr6:117245850G>A ENST00000332958.2 + 15 1590 c.1574G>A c.(1573-1575)cGa>cAa p.R525Q NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 525 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding p.R525Q(1) cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 CATTTGATTCGAATGCTTCTC 0.383000 22 16 0 0 0.001882 0 0 GTF3C5 9328 broad.mit.edu 37 9 135927462 135927462 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr9:135927462C>T ENST00000372097.5 + 5 1107 c.784C>T c.(784-786)Ccc>Tcc p.P262S GTF3C5_ENST00000342018.8_Intron|GTF3C5_ENST00000372095.5_Missense_Mutation_p.P137S|GTF3C5_ENST00000372099.6_Missense_Mutation_p.P253S|GTF3C5_ENST00000372108.5_Missense_Mutation_p.P262S NM_012087.3 NP_036219.2 Q9Y5Q8 TF3C5_HUMAN general transcription factor IIIC, polypeptide 5, 63kDa 262 transcription factor TFIIIC complex DNA binding|protein binding endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1) 21 OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05) TGACATCCGTCCCATCTGGTC 0.562000 15 20 0 0 0.003163 0 0 BTBD9 114781 broad.mit.edu 37 6 38560556 38560556 + Silent SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr6:38560556G>A ENST00000481247.1 - 4 761 c.610C>T c.(610-612)Cta>Tta p.L204L BTBD9_ENST00000408958.1_Silent_p.L136L|BTBD9_ENST00000419706.2_Silent_p.L145L|BTBD9_ENST00000403056.1_Silent_p.L204L|BTBD9_ENST00000314100.6_Silent_p.L136L NM_001099272.1|NM_052893.1 NP_001092742.1|NP_443125.1 Q96Q07 BTBD9_HUMAN BTB (POZ) domain containing 9 204 BACK. cell adhesion breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1) 12 AATAAGGCTAGGAAAATATCT 0.383000 13 19 0 0 0.001855 0 0 LPP 4026 broad.mit.edu 37 3 188327358 188327358 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr3:188327358G>A ENST00000312675.4 + 6 1085 c.839G>A c.(838-840)gGa>gAa p.G280E LPP_ENST00000543006.1_Missense_Mutation_p.G280E|LPP_ENST00000471917.1_3'UTR|LPP_ENST00000448637.1_Missense_Mutation_p.G280E NM_001167672.1|NM_005578.3 NP_001161144.1|NP_005569.1 Q93052 LPP_HUMAN LIM domain containing preferred translocation partner in lipoma 280 Pro-rich. cell adhesion cytoplasm|focal adhesion|nucleus protein binding|zinc ion binding HMGA2/LPP(161) NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088) all_lung(153;0.00139)|Lung NSC(153;0.00202) GBM - Glioblastoma multiforme(93;0.00602) CCACCACCAGGACTTCAGCCG 0.577000 T """HMGA2, MLL, C12orf9""" """lipoma, leukemia""" 6 62 0 0 0.001168 0 0 LGSN 51557 broad.mit.edu 37 6 63990433 63990433 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr6:63990433C>T ENST00000370658.5 - 5 635 c.602G>A c.(601-603)gGa>gAa p.G201E LGSN_ENST00000370657.4_Silent_p.G341G NM_001143940.1|NM_016571.2 NP_001137412.1|NP_057655.2 Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase domain 0 glutamine biosynthetic process glutamate-ammonia ligase activity p.G341G(1) NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 L-Glutamic Acid(DB00142) ACCATTTTTTCCCAGTGATCG 0.488000 22 18 0 0 0.002299 0 0 DHX37 57647 broad.mit.edu 37 12 125438543 125438543 + Splice_Site SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr12:125438543C>T ENST00000308736.2 - 20 2677 c.e20-1 DHX37_ENST00000544745.1_Splice_Site NM_032656.3 NP_116045.2 Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3) 65 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) CCCACGGCGCCTGGGGAACGA 0.657000 7 7 0 0 0.004482 0 0 CD2 914 broad.mit.edu 37 1 117303207 117303207 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr1:117303207G>A ENST00000369478.3 + 3 674 c.566G>A c.(565-567)gGg>gAg p.G189E NM_001767.3 NP_001758.2 P06729 CD2_HUMAN CD2 molecule 189 Ig-like C2-type. blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation integral to plasma membrane receptor activity NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1) 18 Lung SC(450;0.225) all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05) Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201) Alefacept(DB00092) TGCACAGCAGGGAACAAAGTC 0.512000 11 27 0 0 0.001368 0 0 CCDC33 80125 broad.mit.edu 37 15 74623062 74623062 + Silent SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr15:74623062G>A ENST00000321288.5 + 15 2124 c.2124G>A c.(2122-2124)agG>agA p.R708R CCDC33_ENST00000268082.4_Silent_p.R98R|CCDC33_ENST00000558821.1_Silent_p.R98R|CCDC33_ENST00000398814.3_Silent_p.R505R Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 708 protein binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 TGAGGGACAGGGTGCAGCATT 0.572000 9 30 0 0 0.006214 0 0 PREB 10113 broad.mit.edu 37 2 27355501 27355501 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr2:27355501G>A ENST00000260643.2 - 5 975 c.722C>T c.(721-723)tCc>tTc p.S241F PREB_ENST00000406567.3_Missense_Mutation_p.S241F NM_013388.4 NP_037520.1 Q9HCU5 PREB_HUMAN prolactin regulatory element binding 241 COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane|nucleus DNA binding|guanyl-nucleotide exchange factor activity|protein binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1) 14 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGGTGTGCTGGAAAAGGTGGG 0.567000 10 28 0 0 0.008291 0 0 F13A1 2162 broad.mit.edu 37 6 6145907 6145907 + Missense_Mutation SNP A A G TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr6:6145907A>G ENST00000264870.3 - 15 2409 c.2144T>C c.(2143-2145)cTg>cCg p.L715P NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 715 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) CACATGTCTCAGGGAGTCACT 0.557000 20 55 0 0 0.001523 0 0 XK 7504 broad.mit.edu 37 X 37545385 37545385 + Silent SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chrX:37545385C>T ENST00000378616.3 + 1 374 c.171C>T c.(169-171)ttC>ttT p.F57F TM4SF2_ENST00000465127.1_Intron NM_021083.2 NP_066569.1 P51811 XK_HUMAN X-linked Kx blood group (McLeod syndrome) 57 amino acid transport integral to membrane protein binding|transporter activity breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(315;0.175) CGCTTCTCTTCGTACACCGCG 0.657000 11 12 0 0 0.000978 0 0 OR4C15 81309 broad.mit.edu 37 11 55322530 55322530 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr11:55322530C>T ENST00000314644.2 + 1 748 c.748C>T c.(748-750)Ctc>Ttc p.L250F NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 196 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 CATCTTTGGCCTCATGGTGGT 0.458000 HNSCC(20;0.049) 23 17 0 0 0.001882 0 0 PCDHA1 56147 broad.mit.edu 37 5 140166314 140166314 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr5:140166314C>T ENST00000504120.2 + 1 439 c.439C>T c.(439-441)Ctc>Ttc p.L147F PCDHA1_ENST00000378133.3_Missense_Mutation_p.L147F|PCDHA1_ENST00000394633.3_Missense_Mutation_p.L147F 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) TGAATCTAGACTCCTGAATTC 0.448000 14 65 0 0 0.004990 0 0 SH3TC2 79628 broad.mit.edu 37 5 148388436 148388436 + Silent SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr5:148388436G>A ENST00000538184.1 - 11 2985 c.2097C>T c.(2095-2097)gcC>gcT p.A699A SH3TC2_ENST00000515425.1_Silent_p.A1152A|SH3TC2_ENST00000512049.1_Silent_p.A1145A Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 1152 binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAGCCTGGCGGCCAGGGTGG 0.512000 25 69 0 0 0.003954 0 0 NCAPH2 29781 broad.mit.edu 37 22 50961485 50961485 + Nonsense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr22:50961485C>T ENST00000395701.3 + 19 1661 c.1567C>T c.(1567-1569)Cag>Tag p.Q523* NCAPH2_ENST00000420993.2_Nonsense_Mutation_p.Q523*|NCAPH2_ENST00000299821.11_Nonsense_Mutation_p.Q524* Q6IBW4 CNDH2_HUMAN non-SMC condensin II complex, subunit H2 523 chromosome condensation chromosome|nucleus breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1) 24 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.212) CTATGGGGACCAGCTGGTCTC 0.642000 7 17 0 0 0.001984 0 0 HIVEP1 3096 broad.mit.edu 37 6 12161705 12161705 + Missense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr6:12161705G>A ENST00000379388.2 + 8 6853 c.6521G>A c.(6520-6522)gGa>gAa p.G2174E HIVEP1_ENST00000541134.1_Missense_Mutation_p.G39E NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 2174 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) GAGCGATCTGGATATGATCTT 0.408000 51 47 0 0 0.003610 0 0 OR5D18 219438 broad.mit.edu 37 11 55587908 55587908 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr11:55587908C>T ENST00000333976.4 + 1 823 c.803C>T c.(802-804)tCc>tTc p.S268F NM_001001952.1 NP_001001952.1 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, member 18 268 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) TCCAAAAACTCCAGGCACACA 0.507000 18 27 0 0 0.007413 0 0 MAGEA5 4104 broad.mit.edu 37 X 151283696 151283696 + RNA SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chrX:151283696C>T ENST00000509345.2 - 0 640 GAGTGCTGCTCGGAACACAGA 0.512000 37 62 0 0 0.005524 0 0 CXorf57 55086 broad.mit.edu 37 X 105881014 105881014 + Missense_Mutation SNP A A G TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chrX:105881014A>G ENST00000372548.4 + 8 1542 c.1433A>G c.(1432-1434)tAt>tGt p.Y478C CXorf57_ENST00000372544.2_Missense_Mutation_p.Y478C NM_018015.5 NP_060485.4 Q6NSI4 CX057_HUMAN chromosome X open reading frame 57 478 NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 31 CCGTATACGTATGATGCCAAG 0.378000 11 39 0 0 0.001855 0 0 SCAND3 114821 broad.mit.edu 37 6 28542960 28542960 + Nonsense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr6:28542960G>A ENST00000452236.2 - 3 2139 c.1522C>T c.(1522-1524)Cag>Tag p.Q508* NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 508 Integrase catalytic. DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 TGATAGGGCTGATTTTGGGAC 0.423000 33 68 0 0 0.002836 0 0 NSUN7 79730 broad.mit.edu 37 4 40796465 40796465 + Silent SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr4:40796465G>A ENST00000381782.2 + 9 1749 c.1254G>A c.(1252-1254)caG>caA p.Q418Q NSUN7_ENST00000316607.5_Silent_p.Q418Q NM_024677.4 NP_078953.3 NOP2/Sun domain family, member 7 NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 12 CTCAACAGCAGTATGAACAGC 0.343000 9 10 0 0 0.008291 0 0 PUM1 9698 broad.mit.edu 37 1 31501645 31501645 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr1:31501645C>T ENST00000373747.3 - 3 529 c.430G>A c.(430-432)Gag>Aag p.E144K PUM1_ENST00000424085.2_Missense_Mutation_p.E144K|PUM1_ENST00000257075.5_Missense_Mutation_p.E144K|PUM1_ENST00000426105.2_Missense_Mutation_p.E144K|PUM1_ENST00000440538.2_Missense_Mutation_p.E144K|PUM1_ENST00000423018.2_Missense_Mutation_p.E144K|PUM1_ENST00000373742.2_Missense_Mutation_p.E180K|PUM1_ENST00000373741.4_Missense_Mutation_p.E180K NM_001020658.1 NP_001018494.1 Q14671 PUM1_HUMAN pumilio RNA-binding family member 1 144 cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) TCACTTACCTCTCCCATCGCT 0.408000 27 70 0 0 0.002445 0 0 TNIP1 10318 broad.mit.edu 37 5 150411944 150411944 + Splice_Site SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr5:150411944G>A ENST00000389378.2 - 17 2368 c.1779_splice c.e17-1 p.P594_splice TNIP1_ENST00000315050.7_Splice_Site_p.P594_splice|TNIP1_ENST00000518977.1_Splice_Site_p.P594_splice|TNIP1_ENST00000524280.1_Intron|TNIP1_ENST00000520931.1_Splice_Site_p.P541_splice|TNIP1_ENST00000522226.1_Splice_Site_p.P594_splice|TNIP1_ENST00000523338.1_Splice_Site_p.P594_splice|TNIP1_ENST00000523200.1_Splice_Site_p.P530_splice|TNIP1_ENST00000521423.1_5'UTR|TNIP1_ENST00000521591.1_Splice_Site_p.P594_splice NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4 NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3 Q15025 TNIP1_HUMAN TNFAIP3 interacting protein 1 594 Pro-rich. defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation cytoplasm|nucleus protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3) 23 Medulloblastoma(196;0.0911)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GTGTATTCCGGCTGCGACAAA 0.463000 13 8 0 0 0.001855 0 0 LAMB4 22798 broad.mit.edu 37 7 107756451 107756451 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr7:107756451C>T ENST00000388781.3 - 3 273 c.190G>A c.(190-192)Gag>Aag p.E64K LAMB4_ENST00000414450.2_Missense_Mutation_p.E64K|LAMB4_ENST00000205386.4_Missense_Mutation_p.E64K|LAMB4_ENST00000388780.3_Missense_Mutation_p.E64K NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 64 Laminin N-terminal. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 CAACCCACCTCCAGGTAACTG 0.478000 26 23 0 0 0.003954 0 0 DSP 1832 broad.mit.edu 37 6 7576533 7576533 + Nonsense_Mutation SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr6:7576533G>A ENST00000379802.3 + 19 2978 c.2637G>A c.(2635-2637)tgG>tgA p.W879* DSP_ENST00000418664.2_Nonsense_Mutation_p.W879* NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 879 Globular 1. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) CCAGGTTATGGGACCTGGAGA 0.373000 17 39 0 0 0.007413 0 0 PMEPA1 56937 broad.mit.edu 37 20 56227601 56227601 + Silent SNP G G A TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr20:56227601G>A ENST00000341744.3 - 4 691 c.372C>T c.(370-372)ttC>ttT p.F124F PMEPA1_ENST00000395816.3_Silent_p.F74F|PMEPA1_ENST00000395814.1_Silent_p.F74F|PMEPA1_ENST00000265626.4_Silent_p.F74F|PMEPA1_ENST00000347215.4_Silent_p.F89F NM_020182.4 NP_064567.2 Q969W9 PMEPA_HUMAN prostate transmembrane protein, androgen induced 1 124 androgen receptor signaling pathway integral to membrane|plasma membrane WW domain binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1) 16 CCCGCTGGGCGAAGGGCGGCA 0.706000 6 8 0 0 0.001168 0 0 SPEG 10290 broad.mit.edu 37 2 220309693 220309693 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr2:220309693C>T ENST00000312358.7 + 3 757 c.625C>T c.(625-627)Ccg>Tcg p.P209S SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000396698.1_Missense_Mutation_p.P105S NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 209 muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CCGCCGCCTCCCGGGCAGCCC 0.716000 6 7 0 0 0.001168 0 0 KIAA1429 25962 broad.mit.edu 37 8 95538606 95538606 + Silent SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr8:95538606C>T ENST00000297591.5 - 8 1941 c.1866G>A c.(1864-1866)ggG>ggA p.G622G KIAA1429_ENST00000437199.1_Silent_p.G622G|KIAA1429_ENST00000421249.2_Silent_p.G622G NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 622 mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) TTTCTATTTCCCCTTCACTTA 0.383000 14 47 0 0 0.002450 0 0 ADCK3 56997 broad.mit.edu 37 1 227153415 227153431 + Frame_Shift_Del DEL TTGGCCGGCTGGCCAAC TTGGCCGGCTGGCCAAC - rs119468005 TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr1:227153415_227153431delTTGGCCGGCTGGCCAAC ENST00000366779.1 + 9 3403_3419 c.632_648delTTGGCCGGCTGGCCAAC c.(631-648)afs p.IGRLAN211fs ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000366777.3_Frame_Shift_Del_p.IGRLAN211fs|ADCK3_ENST00000458507.2_Intron|ADCK3_ENST00000366776.1_Frame_Shift_Del_p.IGRLAN136fs|ADCK3_ENST00000433743.2_5'UTR|ADCK3_ENST00000366778.1_Frame_Shift_Del_p.IGRLAN159fs|ADCK3_ENST00000366775.1_Frame_Shift_Del_p.IGRLAN56fs Q8NI60 ADCK3_HUMAN aarF domain containing kinase 3 211 cell death mitochondrion ATP binding|protein serine/threonine kinase activity endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 9 GTGACGAGGATTGGCCGGCTGGCCAACTTCGGAGGTA 0.645 8 24 --- --- --- --- RBM5 10181 broad.mit.edu 37 3 50151482 50151483 + Frame_Shift_Ins INS - - G TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr3:50151482_50151483insG ENST00000347869.3 + 19 1892_1893 c.1717_1718insG c.(1717-1719)gagfs p.E573fs NM_005778.3 NP_005769.1 P52756 RBM5_HUMAN RNA binding motif protein 5 573 Required for interaction with U2AF2. apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly nucleoplasm|spliceosomal complex DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2) 19 BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GGAAGAAGAAAGGAGAGAATCT 0.426 10 52 --- --- --- --- MUC13 56667 broad.mit.edu 37 3 124646549 124646552 + Frame_Shift_Del DEL AATG AATG - TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr3:124646549_124646552delAATG ENST00000311075.3 - 2 376_379 c.338_341delCATT c.(337-342)tafs p.SL113fs NM_033049.3 NP_149038.3 Q9H3R2 MUC13_HUMAN mucin 13, cell surface associated 113 Thr-rich. extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1) 18 AGAGGTAGCTAATGAATTTACATT 0.412 47 119 --- --- --- --- EIF3H 8667 broad.mit.edu 37 8 117658804 117658824 + In_Frame_Del DEL CTGGCGCTGCATATTCTCCTG CTGGCGCTGCATATTCTCCTG - TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr8:117658804_117658824delCTGGCGCTGCATATTCTCCTG ENST00000521861.1 - 7 870_890 c.847_867delCAGGAGAATATGCAGCGCCAG c.(847-867)del p.QENMQRQ283del EIF3H_ENST00000276682.4_In_Frame_Del_p.QENMQRQ297del NM_003756.2 NP_003747.1 O15372 EIF3H_HUMAN eukaryotic translation initiation factor 3, subunit H 283 regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity large_intestine(2)|lung(10)|skin(1) 13 all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172) CTCCTCGGCTCTGGCGCTGCATATTCTCCTGCTGGCGACGC 0.520 14 126 --- --- --- --- PTPN5 84867 broad.mit.edu 37 11 18762237 18762237 + Frame_Shift_Del DEL C C - TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr11:18762237delC ENST00000396170.1 - 8 1996 c.732delG c.(730-732)gafs p.E244fs PTPN5_ENST00000358540.2_Frame_Shift_Del_p.E276fs|PTPN5_ENST00000396171.4_Frame_Shift_Del_p.E276fs|PTPN5_ENST00000477854.1_Frame_Shift_Del_p.E80fs|PTPN5_ENST00000396168.1_Frame_Shift_Del_p.E252fs|PTPN5_ENST00000396167.2_Frame_Shift_Del_p.E244fs NM_001278236.1 NP_001265165.1 P54829 PTN5_HUMAN protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) 276 integral to membrane phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4) 27 TGAGCAGGTACTCGCGGGCGG 0.597 19 18 --- --- --- --- SLC22A6 9356 broad.mit.edu 37 11 62744845 62744845 + Frame_Shift_Del DEL C C - TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr11:62744845delC ENST00000377871.3 - 9 1642 c.1376delG c.(1375-1377)gafs p.G459fs SLC22A6_ENST00000421062.2_Intron|SLC22A6_ENST00000458333.2_Intron|SLC22A6_ENST00000360421.4_Frame_Shift_Del_p.G459fs NM_004790.4|NM_153278.2 NP_004781.2|NP_695010.1 Q4U2R8 S22A6_HUMAN solute carrier family 22 (organic anion transporter), member 6 459 alpha-ketoglutarate transport basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 GCTGCCCATTCCCATGCCTGT 0.607 5 5 --- --- --- --- USP28 57646 broad.mit.edu 37 11 113673923 113673924 + Frame_Shift_Ins INS - - C TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr11:113673923_113673924insC ENST00000003302.4 - 23 2886_2887 c.2818_2819insG c.(2818-2820)caafs p.Q940fs USP28_ENST00000260188.5_Frame_Shift_Ins_p.Q908fs|USP28_ENST00000545540.1_Frame_Shift_Ins_p.Q783fs|USP28_ENST00000544967.1_Frame_Shift_Ins_p.Q616fs NM_020886.2 NP_065937.1 Q96RU2 UBP28_HUMAN ubiquitin specific peptidase 28 940 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) GGATTCTTTGACCCCCCGGCGG 0.455 17 41 --- --- --- --- ZNF287 57336 broad.mit.edu 37 17 16455883 16455885 + In_Frame_Del DEL GAA GAA - TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chr17:16455883_16455885delGAA ENST00000395824.1 - 6 2188_2190 c.1571_1573delTTC c.(1570-1575)cag>c p.LQ524del ZNF287_ENST00000395825.3_In_Frame_Del_p.LQ524del Q9HBT7 ZN287_HUMAN zinc finger protein 287 517 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (92;0.083) TTTTGATGCTGAAGAAGGTGTGT 0.350 14 59 --- --- --- --- TAF1 6872 broad.mit.edu 37 X 70612480 70612480 + Frame_Shift_Del DEL T T - TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6526a259-00e0-4ab5-b0d3-dec541791b81 c288ef56-e293-401a-bfac-ed4d76b8724b g.chrX:70612480delT ENST00000449580.1 + 19 2891 c.2840delT c.(2839-2841)cgfs p.L948fs TAF1_ENST00000423759.1_Frame_Shift_Del_p.L969fs|TAF1_ENST00000276072.3_Frame_Shift_Del_p.L969fs|TAF1_ENST00000373790.4_Frame_Shift_Del_p.L948fs P21675 TAF1_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 948 G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 124 Renal(35;0.156) all_lung(315;0.000321) GGCAAGTGTCTGCTAGAGGTG 0.507 45 46 --- --- --- ---