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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut KIR3DL2 3812 broad.mit.edu 37 19 55333038 55333038 + Missense_Mutation SNP C T T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr19:55333038C>T uc002qhl.4 + 4 737 c.674C>T c.(673-675)tCt>tTt p.S225F KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Missense_Mutation_p.S225F|KIR3DL2_uc010esf.3_Missense_Mutation_p.S130F|KIR3DL2_uc021vbo.1_Missense_Mutation_p.S225F|KIR3DL2_uc002qhk.4_Missense_Mutation_p.S225F P43630 KI3L2_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA. 225 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) GAGAAACCTTCTCTCTCAGCC 0.557000 88 114 0 0 0.870114 0 0 USP6 9098 broad.mit.edu 37 17 5041493 5041493 + Missense_Mutation SNP G A A rs145087393 byFrequency TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr17:5041493G>A uc002gau.1 + 20 3233 c.1003G>A c.(1003-1005)Gat>Aat p.D335N USP6_uc002gav.1_Missense_Mutation_p.D335N|USP6_uc010ckz.1_5'UTR|DQ584383_uc021toj.1_5'Flank|DQ574802_uc021tok.1_5'Flank|DQ573130_uc002gbd.3_5'Flank NM_004505 NP_004496 P35125 UBP6_HUMAN Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA. 335 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 GGCCATGAACGATGACACCGT 0.577000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 76 55 0 0 0.870114 0 0 MMRN1 22915 broad.mit.edu 37 4 90856722 90856722 + Missense_Mutation SNP A G G TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr4:90856722A>G uc003hst.3 + 5 1962 c.1891A>G c.(1891-1893)Aag>Gag p.K631E MMRN1_uc010iku.3_Intron|MMRN1_uc011cds.2_Missense_Mutation_p.K373E NM_007351 NP_031377 Q13201 MMRN1_HUMAN Homo sapiens multimerin 1 (MMRN1), mRNA. 631 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) AATGGACAATAAGATGGACAA 0.363000 96 4 0 0 0.150653 0 0 MYH8 4626 broad.mit.edu 37 17 10310124 10310124 + Splice_Site SNP C T T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr17:10310124C>T uc002gmm.2 - 19 2149 c.2054_splice c.e19-1 p.G685_splice AK097500_uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA. 685 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 TTCCATTGCCCCTAAAAATAT 0.418000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 16 11 0 0 0.361761 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140215804 140215804 + Silent SNP A G G TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr5:140215804A>G uc003lhq.2 + 0 1836 c.1836A>G c.(1834-1836)caA>caG p.Q612Q PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Silent_p.Q612Q NM_018910 NP_061733 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA. 624 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGAGTTGCAACCGGTGGCGG 0.647000 99 28 0 0 0.760397 0 0 MYOM2 9172 broad.mit.edu 37 8 2017587 2017587 + Missense_Mutation SNP C T T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr8:2017587C>T uc003wpx.4 + 7 902 c.764C>T c.(763-765)cCa>cTa p.P255L MYOM2_uc011kwi.2_Intron NM_003970 NP_003961 P54296 MYOM2_HUMAN Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA. 255 muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) GACGAGGAACCATTCCGTTCG 0.507000 42 121 0 0 0.870114 0 0 CDH10 1008 broad.mit.edu 37 5 24535308 24535308 + Missense_Mutation SNP C T T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr5:24535308C>T uc003jgr.2 - 4 1233 c.727G>A c.(727-729)Ggc>Agc p.G243S CDH10_uc011cnu.2_Non-coding_Transcript NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA. 243 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) ATCTGGCCGCCCATGTCTTTG 0.473000 HNSCC(23;0.051) 59 24 0 0 0.681144 0 0 GHR 2690 broad.mit.edu 37 5 42711475 42711475 + Splice_Site SNP G A A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr5:42711475G>A uc021xxv.1 + 7 942 c.805_splice c.e7+1 p.D269_splice GHR_uc003jmt.3_Splice_Site_p.D262_splice|GHR_uc003jmu.3_Splice_Site_p.D262_splice|GHR_uc003jmv.2_Splice_Site_p.D262_splice|GHR_uc021xxw.1_Splice_Site_p.D262_splice|GHR_uc021xxx.1_Splice_Site_p.D262_splice|GHR_uc021xxy.1_Splice_Site_p.D262_splice|GHR_uc021xxz.1_Splice_Site_p.D262_splice|GHR_uc021xya.1_Splice_Site_p.D262_splice|GHR_uc021xyb.1_Splice_Site_p.D262_splice|GHR_uc021xyc.1_Splice_Site_p.D262_splice|GHR_uc011cpq.2_Splice_Site_p.D75_splice|GHR_uc021xyd.1_Splice_Site_p.D240_splice NM_001242399 NP_001229328 P10912 GHR_HUMAN Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA. 262 2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) TGTGAAGAAGGTAAAAGAAAT 0.378000 61 25 0 0 0.667858 0 0 VCAN 1462 broad.mit.edu 37 5 82817123 82817123 + Missense_Mutation SNP C T T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr5:82817123C>T uc003kii.3 + 6 3354 c.2998C>T c.(2998-3000)Ccc>Tcc p.P1000S VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.P1000S|VCAN_uc003kik.3_Intron NM_004385 NP_004376 P13611 CSPG2_HUMAN Homo sapiens versican (VCAN), transcript variant 1, mRNA. 1000 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) TCTAGGTGAACCCTCTCAAGA 0.428000 48 16 0 0 0.557998 0 0 PTPRT 11122 broad.mit.edu 37 20 40877386 40877386 + Silent SNP G A A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr20:40877386G>A uc002xkg.3 - 13 2437 c.2253C>T c.(2251-2253)atC>atT p.I751I PTPRT_uc010ggj.3_Silent_p.I770I NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 751 homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GGAGGCCAGCGATCACGCCAG 0.552000 49 19 0 0 0.624587 0 0 FAM135B 51059 broad.mit.edu 37 8 139163542 139163542 + Missense_Mutation SNP G A A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr8:139163542G>A uc003yuy.3 - 12 3347 c.3176C>T c.(3175-3177)tCc>tTc p.S1059F FAM135B_uc003yux.3_Missense_Mutation_p.S960F|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.S621F|FAM135B_uc003yvb.3_Missense_Mutation_p.S621F NM_015912 NP_056996 Q49AJ0 F135B_HUMAN Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA. 1059 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GGTCTGTTTGGAAGAGAATCC 0.522000 HNSCC(54;0.14) 23 28 0 0 0.740014 0 0 EML5 161436 broad.mit.edu 37 14 89093244 89093244 + Missense_Mutation SNP C T T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr14:89093244C>T uc021ryf.1 - 33 4927 c.4678G>A c.(4678-4680)Ggg>Agg p.G1560R EML5_uc001xxf.3_Missense_Mutation_p.G347R|EML5_uc021ryg.1_Missense_Mutation_p.G1560R|EML5_uc001xxh.1_Missense_Mutation_p.G691R NM_183387 NP_899243 Q05BV3 EMAL5_HUMAN Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA. 1552 cytoplasm|microtubule breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 CTCAGTAGCCCTTTTTTGCTA 0.468000 34 30 0 0 0.750413 0 0 DNAH9 1770 broad.mit.edu 37 17 11840675 11840675 + Missense_Mutation SNP G A A rs148626653 TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr17:11840675G>A uc002gne.3 + 65 12564 c.12496G>A c.(12496-12498)Gat>Aat p.D4166N DNAH9_uc010coo.3_Missense_Mutation_p.D3384N|DNAH9_uc002gnf.3_Missense_Mutation_p.D478N NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 4166 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) TCAGTACATCGATGCTGAGCT 0.547000 97 24 0 0 0.706142 0 0 NRP1 8829 broad.mit.edu 37 10 33502319 33502319 + Missense_Mutation SNP C T T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr10:33502319C>T uc001iwx.4 - 8 2132 c.1609G>A c.(1609-1611)Gcg>Acg p.A537T NRP1_uc001iwv.4_Missense_Mutation_p.A537T|NRP1_uc001iwy.4_Missense_Mutation_p.A537T|NRP1_uc009xlz.3_Missense_Mutation_p.A537T|NRP1_uc001iww.4_Missense_Mutation_p.A356T|NRP1_uc001iwz.2_Missense_Mutation_p.A537T|NRP1_uc001ixa.2_Missense_Mutation_p.A537T|NRP1_uc001ixb.2_Missense_Mutation_p.A537T|NRP1_uc001ixc.1_Missense_Mutation_p.A537T NM_003873 NP_003864 O14786 NRP1_HUMAN Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA. 537 F5/8 type C 2. axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity p.A537V(1) NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 48 Palifermin(DB00039)|Pegaptanib(DB04895) CTCACCTTCGCCTTGCGTTTG 0.527000 54 98 0 0 0.870114 0 0 IL23R 149233 broad.mit.edu 37 1 67666516 67666516 + Silent SNP C T T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr1:67666516C>T uc001ddo.3 + 4 673 c.588C>T c.(586-588)gtC>gtT p.V196V IL23R_uc009waz.3_5'UTR|IL23R_uc001ddp.2_Non-coding_Transcript|IL23R_uc010opi.2_Non-coding_Transcript|IL23R_uc010opj.2_Intron|IL23R_uc010opk.2_Silent_p.V153V|IL23R_uc010opl.2_Intron|IL23R_uc010opm.2_Non-coding_Transcript|IL23R_uc001ddq.3_Intron|IL23R_uc010opn.2_Silent_p.V41V|IL23R_uc001ddr.3_Non-coding_Transcript|IL23R_uc010opo.1_Silent_p.V55V|IL23R_uc010opp.1_Intron|IL23R_uc010opq.1_Silent_p.V55V|IL23R_uc010opr.1_Non-coding_Transcript|IL23R_uc010oqh.2_Intron|IL23R_uc010oqf.2_5'UTR|IL23R_uc010ops.2_5'UTR|IL23R_uc010opt.2_5'UTR|IL23R_uc010opu.2_5'UTR|IL23R_uc010opv.2_Silent_p.V55V|IL23R_uc010opw.2_Intron|IL23R_uc010opx.2_Intron|IL23R_uc010opy.2_5'UTR|IL23R_uc010opz.2_Intron|IL23R_uc010oqa.2_5'UTR|IL23R_uc010oqb.2_Silent_p.V55V|IL23R_uc010oqc.2_Intron|IL23R_uc010oqd.2_Intron|IL23R_uc010oqe.2_5'UTR|IL23R_uc010oqg.2_5'UTR NM_144701 NP_653302 Q5VWK5 IL23R_HUMAN Homo sapiens interleukin 23 receptor (IL23R), mRNA. 196 Fibronectin type-III 1. inflammatory response|negative regulation of interleukin-10 production|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|response to interferon-gamma|response to lipopolysaccharide interleukin-23 receptor complex receptor activity breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 21 TGGTTTGGGTCCAAGCAGCAA 0.373000 77 39 0 0 0.870114 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77353946 77353946 + Missense_Mutation SNP C T T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr16:77353946C>T uc002ffc.4 - 15 2751 c.2332G>A c.(2332-2334)Gaa>Aaa p.E778K ADAMTS18_uc010chc.1_Missense_Mutation_p.E366K|ADAMTS18_uc002ffe.1_Missense_Mutation_p.E474K NM_199355 NP_955387 Q8TE60 ATS18_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA. 778 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 TCCTGGATTTCGATGCTTCGG 0.522000 40 18 0 0 0.608945 0 0 LMAN2 10960 broad.mit.edu 37 5 176764711 176764711 + Missense_Mutation SNP G A A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr5:176764711G>A uc003mge.3 - 3 746 c.509C>T c.(508-510)aCt>aTt p.T170I NM_006816 NP_006807 Q12907 LMAN2_HUMAN Homo sapiens lectin, mannose-binding 2 (LMAN2), mRNA. 170 L-type lectin-like. protein transport ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane metal ion binding|sugar binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1) 16 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCCTACCTCAGTGGTCTCATC 0.547000 17 7 0 0 0.278610 0 0 HEATR8 374977 broad.mit.edu 37 1 55167796 55167796 + Silent SNP C T T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr1:55167796C>T uc010ooe.1 + 19 3643 c.3319C>T c.(3319-3321)Ctg>Ttg p.L1107L HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ood.1_Silent_p.L625L|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_Silent_p.L309L NM_001039464 NP_001034553 Q68CQ1 HEAT8_HUMAN Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA. 1107 integral to membrane binding breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 CTGCATCAACCTGTATGGGAA 0.622000 22 15 0 0 0.557998 0 0 THSD1P1 374500 broad.mit.edu 37 13 52865661 52865661 + RNA SNP C A A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr13:52865661C>A uc001vgm.1 - 0 c.20G>T Homo sapiens thrombospondin, type I, domain containing 1 pseudogene 1 (THSD1P1), non-coding RNA. AAGGATGACACAATTGAATGA 0.289000 39 9 0.000308642 0.00031617 0.479597 1 0 UBC 7316 broad.mit.edu 37 17 21731075 21731075 + Missense_Mutation SNP T G G rs111568648 TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr17:21731075T>G uc002gyy.3 + 1 502 c.377T>G c.(376-378)cTg>cGg p.L126R P0CG48 UBC_HUMAN SubName: Full=Uncharacterized protein; 278 Ubiquitin-like 2. DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) GGCAAGCAGCTGGAAGATGGC 0.537000 65 3 0 0 0.115264 0 0 RYR2 6262 broad.mit.edu 37 1 237664122 237664122 + Missense_Mutation SNP G A A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr1:237664122G>A uc001hyl.1 + 20 2435 c.2315G>A c.(2314-2316)gGa>gAa p.G772E NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 772 B30.2/SPRY 1. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CGAATTAATGGACAACCTGTT 0.403000 107 41 0 0 0.847076 0 0 ODZ1 10178 broad.mit.edu 37 X 124030042 124030042 + Missense_Mutation SNP G A A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chrX:124030042G>A uc010nqy.3 - 1 330 c.266C>T c.(265-267)aCa>aTa p.T89I ODZ1_uc011muj.2_Missense_Mutation_p.T89I|ODZ1_uc004euj.3_Missense_Mutation_p.T89I NM_001163278 NP_001156750 Q9UKZ4 TEN1_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA. 89 Teneurin N-terminal. immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 212 GTGCATGTCTGTTTGGTAGCC 0.473000 51 80 0 0 0.870114 0 0 CLCA2 9635 broad.mit.edu 37 1 86916377 86916377 + Missense_Mutation SNP G A A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr1:86916377G>A uc001dlr.4 + 11 2278 c.2116G>A c.(2116-2118)Ggg>Agg p.G706R NM_006536 NP_006527 Q9UQC9 CLCA2_HUMAN Homo sapiens chloride channel accessory 2 (CLCA2), mRNA. 706 cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 42 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) CTCTATTCCAGGGAGTCATGC 0.423000 91 54 0 0 0.870114 0 0 COL7A1 1294 broad.mit.edu 37 3 48622192 48622192 + Missense_Mutation SNP C T T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr3:48622192C>T uc003ctz.2 - 33 4023 c.4022G>A c.(4021-4023)gGa>gAa p.G1341E NM_000094 NP_000085 Q02388 CO7A1_HUMAN Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA. 1341 Interrupted collagenous region.|Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GCCTCGAGGTCCTCGCTCTCC 0.667000 50 14 0 0 0.520397 0 0 ZFYVE20 64145 broad.mit.edu 37 3 15115903 15115903 + Missense_Mutation SNP G A A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr3:15115903G>A uc003bzm.1 - 13 2355 c.1741C>T c.(1741-1743)Cca>Tca p.P581S ZFYVE20_uc010hek.1_Missense_Mutation_p.P581S NM_022340 NP_071735 Q9H1K0 RBNS5_HUMAN Homo sapiens zinc finger, FYVE domain containing 20 (ZFYVE20), mRNA. 581 Necessary for the interaction with EHD1. blood coagulation|endosome transport|protein transport early endosome membrane|plasma membrane protein binding|zinc ion binding NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2) 26 GTGCTGCTTGGAACTGGGGAA 0.592000 11 19 0 0 0.608945 0 0 PLCE1 51196 broad.mit.edu 37 10 95995871 95995871 + Missense_Mutation SNP G A A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr10:95995871G>A uc001kjk.3 + 6 3048 c.2414G>A c.(2413-2415)cGa>cAa p.R805Q PLCE1_uc010qnx.2_Missense_Mutation_p.R805Q|PLCE1_uc001kjm.3_Missense_Mutation_p.R497Q NM_016341 NP_057425 Q9P212 PLCE1_HUMAN Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA. 805 Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction Golgi membrane|cytosol|membrane fraction|plasma membrane Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) GATAAAAGCCGATGGCAGTAA 0.463000 4 9 0 0 0.361761 0 0 STAMBPL1 57559 broad.mit.edu 37 10 90732959 90732959 + Silent SNP G A A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr10:90732959G>A uc010qmx.1 + 10 1698 c.1275G>A c.(1273-1275)ggG>ggA p.G425G ACTA2_uc001kfq.3_Intron|FAS_uc010qna.2_Non-coding_Transcript NM_020799 NP_065850 Q96FJ0 STALP_HUMAN Homo sapiens STAM binding protein-like 1 (STAMBPL1), mRNA. 0 metal ion binding|metallopeptidase activity|protein binding breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1) 11 Colorectal(252;0.0381) Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05) TCCTTTCTGGGATAATTTCTG 0.433000 26 49 0 0 0.870114 0 0 WWC1 23286 broad.mit.edu 37 5 167850881 167850881 + Missense_Mutation SNP C T T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr5:167850881C>T uc003lzu.3 + 10 1711 c.1618C>T c.(1618-1620)Ctc>Ttc p.L540F WWC1_uc003lzv.3_Missense_Mutation_p.L540F|WWC1_uc011den.2_Missense_Mutation_p.L540F|WWC1_uc003lzw.3_Missense_Mutation_p.L339F NM_015238 NP_056053 Q8IX03 KIBRA_HUMAN Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA. 540 cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4) 43 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) ACGTTCCTCTCTCTCCTCCCC 0.632000 68 27 0 0 0.779181 0 0 PCDHB7 56129 broad.mit.edu 37 5 140554138 140554138 + Silent SNP G A A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr5:140554138G>A uc003lit.3 + 0 1896 c.1722G>A c.(1720-1722)gaG>gaA p.E574E NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN Homo sapiens protocadherin beta 7 (PCDHB7), mRNA. 574 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCTGCACCGAGCCGTTGCCCC 0.701000 44 74 0 0 0.870114 0 0 ZNF197 10168 broad.mit.edu 37 3 44684223 44684223 + Missense_Mutation SNP G T T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr3:44684223G>T uc003cnm.3 + 5 1807 c.1601G>T c.(1600-1602)gGg>gTg p.G534V ZNF197_uc003cnn.3_Intron|ZNF197_uc003cno.3_Intron|ZNF197_uc003cnp.3_Intron NM_006991 NP_008922 O14709 ZN197_HUMAN Homo sapiens zinc finger protein 197 (ZNF197), transcript variant 1, mRNA. 534 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1) 25 KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598) ATCCACTCTGGGGAAAAACCC 0.433000 93 7 2.52707e-12 2.67572e-12 0.335167 1 0 HR 55806 broad.mit.edu 37 8 21982903 21982903 + Missense_Mutation SNP G C C TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr8:21982903G>C uc003xas.3 - 4 2336 c.1671C>G c.(1669-1671)caC>caG p.H557Q HR_uc003xat.3_Missense_Mutation_p.H557Q NM_005144 NP_005135 O43593 HAIR_HUMAN Homo sapiens hairless homolog (mouse) (HR), transcript variant 1, mRNA. 557 DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 27 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) CACTGAGCAGGTGCTTGGCGA 0.687000 6 12 0 0 0.479597 0 0 FLG2 388698 broad.mit.edu 37 1 152328911 152328911 + Nonsense_Mutation SNP G A A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr1:152328911G>A uc001ezw.4 - 2 1424 c.1351C>T c.(1351-1353)Caa>Taa p.Q451* AK056431_uc001ezv.3_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN Homo sapiens filaggrin family member 2 (FLG2), mRNA. 451 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCACAAGTTTGACCTGAGCCA 0.478000 94 104 0 0 0.870114 0 0 PKHD1 5314 broad.mit.edu 37 6 51512867 51512867 + Missense_Mutation SNP G A A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr6:51512867G>A uc003pah.1 - 62 11636 c.11360C>T c.(11359-11361)tCa>tTa p.S3787L NM_138694 NP_619639 P08F94 PKHD1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA. 3787 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) CAGGGAAGCTGAAATTGTCCA 0.423000 65 21 0 0 0.693898 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113518355 113518355 + Missense_Mutation SNP G T T rs35449651 byFrequency TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr7:113518355G>T uc010ljy.1 - 3 2823 c.2792C>A c.(2791-2793)gCa>gAa p.A931E NM_002711 NP_002702 Q16821 PPR3A_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA. 931 A -> E (in NIDDM; dbSNP:rs35449651). glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 TACAGCAATTGCCTGCTCATT 0.378000 75 52 1.53582e-20 1.65396e-20 0.870114 1 0 SH2D3C 10044 broad.mit.edu 37 9 130513556 130513556 + Silent SNP C T T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr9:130513556C>T uc004bsc.3 - 3 721 c.579G>A c.(577-579)ctG>ctA p.L193L SH2D3C_uc010mxo.3_Silent_p.L33L|SH2D3C_uc004bry.3_Silent_p.L35L|SH2D3C_uc004brz.4_5'UTR|SH2D3C_uc011mak.2_5'UTR|SH2D3C_uc004bsb.3_Silent_p.L125L|SH2D3C_uc004bsa.3_Silent_p.L36L NM_170600 NP_733745 Q8N5H7 SH2D3_HUMAN Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA. 193 JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GCGATGAGTCCAGGATGTACT 0.517000 26 67 0 0 0.870114 0 0 OSBPL9 114883 broad.mit.edu 37 1 52250221 52250221 + Missense_Mutation SNP G A A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr1:52250221G>A uc001cst.3 + 19 2033 c.1850G>A c.(1849-1851)gGg>gAg p.G617E OSBPL9_uc001css.3_Missense_Mutation_p.G604E|OSBPL9_uc009vza.3_Missense_Mutation_p.G582E|OSBPL9_uc001csu.3_Missense_Mutation_p.G609E|OSBPL9_uc001csv.3_Missense_Mutation_p.G434E|OSBPL9_uc001csw.3_Missense_Mutation_p.G586E|OSBPL9_uc001csy.3_Missense_Mutation_p.G421E|OSBPL9_uc001csz.3_Missense_Mutation_p.G421E|OSBPL9_uc001cta.3_Missense_Mutation_p.G489E|OSBPL9_uc001ctb.3_Missense_Mutation_p.G384E NM_024586 NP_078862 Q96SU4 OSBL9_HUMAN Homo sapiens oxysterol binding protein-like 9 (OSBPL9), transcript variant 6, mRNA. 599 lipid transport lipid binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1) 18 CCCTTCTATGGGGGCAAGAAG 0.403000 45 19 0 0 0.592651 0 0 UCKL1 54963 broad.mit.edu 37 20 62572210 62572210 + Splice_Site SNP C T T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr20:62572210C>T uc010gkn.3 - 11 1192 c.1117_splice c.e11-1 p.D373_splice UCKL1_uc011abm.2_Splice_Site_p.D358_splice|UCKL1_uc011abn.2_Splice_Site NM_017859 NP_060329 Q9NWZ5 UCKL1_HUMAN Homo sapiens uridine-cytidine kinase 1-like 1 (UCKL1), transcript variant 1, mRNA. 373 interspecies interaction between organisms endoplasmic reticulum|nucleus ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) CGACGCAGTCCTGTGGGGTGC 0.682000 22 31 0 0 0.827153 0 0 ZCCHC2 54877 broad.mit.edu 37 18 60242215 60242215 + Silent SNP C T T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr18:60242215C>T uc002lip.4 + 12 2901 c.2901C>T c.(2899-2901)ggC>ggT p.G967G ZCCHC2_uc002lio.2_Non-coding_Transcript|ZCCHC2_uc002liq.3_Silent_p.G437G NM_017742 NP_060212 Q9C0B9 ZCHC2_HUMAN Homo sapiens zinc finger, CCHC domain containing 2 (ZCCHC2), mRNA. 967 cell communication cytoplasm nucleic acid binding|phosphatidylinositol binding|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 ACACCCCAGGCCCTGCCCCGA 0.617000 64 28 0 0 0.740014 0 0 TTN 7273 broad.mit.edu 37 2 179517255 179517255 + Silent SNP C T T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr2:179517255C>T uc021vsy.1 - 155 31980 c.31755G>A c.(31753-31755)ccG>ccA p.P10585P MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_5'Flank|TTN_uc002umx.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 11512 Glu-rich.|Pro-rich. 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) CAACTTCTTTCGGAGCCTCTG 0.373000 67 26 0 0 0.769981 0 0 PLA2G4D 283748 broad.mit.edu 37 15 42373218 42373218 + Silent SNP G A A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr15:42373218G>A uc001zox.3 - 11 1166 c.1071C>T c.(1069-1071)ttC>ttT p.F357F NM_178034 NP_828848 Q86XP0 PA24D_HUMAN Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA. 357 PLA2c. phospholipid catabolic process cytoplasmic vesicle membrane|cytosol metal ion binding|phospholipase A2 activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245) OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06) AGATGCCACTGAAGTAGGTCA 0.612000 19 19 0 0 0.608945 0 0 MME 4311 broad.mit.edu 37 3 154861348 154861348 + Silent SNP G A A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr3:154861348G>A uc010hvr.1 + 12 1516 c.1305G>A c.(1303-1305)gaG>gaA p.E435E MME_uc003fab.1_Silent_p.E435E|MME_uc003fac.1_Silent_p.E435E|MME_uc003fad.1_Silent_p.E435E|MME_uc003fae.1_Silent_p.E435E NM_007289 NP_009220 P08473 NEP_HUMAN Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA. 435 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) TTGCTGGAGAGAGTAAACATG 0.403000 112 28 0 0 0.812448 0 0 DSG4 147409 broad.mit.edu 37 18 28991408 28991408 + Silent SNP G A A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr18:28991408G>A uc002kwr.2 + 13 2544 c.2409G>A c.(2407-2409)tcG>tcA p.S803S DSG4_uc002kwq.2_Silent_p.S784S NM_001134453 NP_001127925 Q86SJ6 DSG4_HUMAN Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA. 784 homophilic cell adhesion desmosome|integral to membrane calcium ion binding p.C802Y(1) NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) GCTACTTCTCGGAGGTAATGC 0.473000 31 45 0 0 0.870114 0 0 MGAM 8972 broad.mit.edu 37 7 141732710 141732710 + Splice_Site SNP G A A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr7:141732710G>A uc003vwy.3 + 14 1723 c.1669_splice c.e14+1 p.R557_splice NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 557 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TTCACTCCCAGTAAGTCTTGG 0.373000 20 14 0 0 0.539581 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102476715 102476715 + Silent SNP C T T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr14:102476715C>T uc001yks.2 + 30 6488 c.6324C>T c.(6322-6324)atC>atT p.I2108I NM_001376 NP_001367 Q14204 DYHC1_HUMAN Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA. 2108 G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 GAGAGAGAATCCAGAAGATAA 0.463000 30 26 0 0 0.740014 0 0 RP1L1 94137 broad.mit.edu 37 8 10469525 10469525 + Missense_Mutation SNP C T T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr8:10469525C>T uc003wtc.3 - 3 2312 c.2083G>A c.(2083-2085)Gcc>Acc p.A695T NM_178857 NP_849188 A6NKC6 A6NKC6_HUMAN Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA. 695 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) TCCTGGCAGGCCCTTCGCCGC 0.617000 16 34 0 0 0.796494 0 0 PAQR8 85315 broad.mit.edu 37 6 52268794 52268794 + Missense_Mutation SNP C A A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr6:52268794C>A uc003pao.4 + 1 957 c.783C>A c.(781-783)ttC>ttA p.F261L PAQR8_uc021zal.1_Missense_Mutation_p.F261L NM_133367 NP_588608 Q8TEZ7 MPRB_HUMAN Homo sapiens progestin and adipoQ receptor family member VIII (PAQR8), mRNA. 261 cell differentiation|multicellular organismal development|oogenesis integral to membrane|plasma membrane receptor activity|steroid binding endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2) 17 Lung NSC(77;0.0875) GCGCTTATTTCTTCTCCTGCC 0.572000 61 13 1.3612e-06 1.41745e-06 0.479597 1 0 FBXO31 79791 broad.mit.edu 37 16 87417077 87417077 + Nonsense_Mutation SNP G A A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr16:87417077G>A uc002fjw.3 - 0 318 c.274C>T c.(274-276)Cag>Tag p.Q92* FBXO31_uc010vot.2_Intron NM_024735 NP_079011 Q5XUX0 FBX31_HUMAN Homo sapiens F-box protein 31 (FBXO31), mRNA. 92 F-box. SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint SCF ubiquitin ligase complex cyclin binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 17 BRCA - Breast invasive adenocarcinoma(80;0.0272) GTGCAGACCTGGGCCAAGCTG 0.736000 7 5 0 0 0.248553 0 0 SLC22A11 55867 broad.mit.edu 37 11 64338456 64338456 + Missense_Mutation SNP C T T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr11:64338456C>T uc001oai.3 + 9 1969 c.1595C>T c.(1594-1596)tCa>tTa p.S532L SLC22A11_uc009ypq.3_Missense_Mutation_p.S424L NM_018484 NP_060954 Q9NSA0 S22AB_HUMAN Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 11 (SLC22A11), mRNA. 532 urate metabolic process apical plasma membrane|external side of plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 Probenecid(DB01032) TCTAGGAAATCAACAGCAGCC 0.512000 63 32 0 0 0.812448 0 0 BPIFB3 359710 broad.mit.edu 37 20 31656748 31656749 + Missense_Mutation DNP GG AA AA TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr20:31656748_31656749GG>AA uc002wym.1 + 9 1118_1119 c.1118_1119GG>AA c.(1117-1119)ggg>gAA p.G373E NM_182658 NP_872599 P59826 LPLC3_HUMAN Homo sapiens BPI fold containing family B, member 3 (BPIFB3), mRNA. 373 innate immune response cytoplasm|extracellular region lipid binding|protein binding GTCCCTAAGGGGACCCCTGAAT 0.594000 66 27 0 0 0.115264 0 0 CCDC64B 146439 broad.mit.edu 37 16 3080465 3080465 + Silent SNP C T T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr16:3080465C>T uc002ctf.4 - 3 792 c.747G>A c.(745-747)cgG>cgA p.R249R CCDC64B_uc002cte.4_Silent_p.R42R|CCDC64B_uc010bta.1_3'UTR NM_001103175 NP_001096645 A1A5D9 BICR2_HUMAN Homo sapiens coiled-coil domain containing 64B (CCDC64B), mRNA. 249 breast(1)|endometrium(2)|large_intestine(1) 4 GGCTGTGCTCCCGCCGCTCCC 0.652000 9 13 0 0 0.500413 0 0 MUC16 94025 broad.mit.edu 37 19 9073897 9073897 + Missense_Mutation SNP C T T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr19:9073897C>T uc002mkp.3 - 2 13753 c.13549G>A c.(13549-13551)Gag>Aag p.E4517K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 4519 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.E4517K(3)|p.E150K(1) 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 GCCAGTATCTCATTTGATGGA 0.433000 49 34 0 0 0.840704 0 0 LSG1 55341 broad.mit.edu 37 3 194379705 194379705 + Missense_Mutation SNP G A A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr3:194379705G>A uc003fui.3 - 6 1055 c.740C>T c.(739-741)cCc>cTc p.P247L NM_018385 NP_060855 Q9H089 LSG1_HUMAN Homo sapiens large subunit GTPase 1 homolog (S. cerevisiae) (LSG1), mRNA. 247 nuclear export|protein transport Cajal body|endoplasmic reticulum GTP binding|hydrolase activity breast(2)|endometrium(3)|large_intestine(2)|lung(9) 16 all_cancers(143;1.68e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;7.55e-06) ACCATTCAGGGGAATGGCTCC 0.458000 161 48 0 0 0.870114 0 0 SLC22A24 283238 broad.mit.edu 37 11 62911066 62911066 + Silent SNP A G G TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr11:62911066A>G uc021qkp.1 - 0 628 c.186T>C c.(184-186)aaT>aaC p.N62N NM_001136506 NP_001129978 Homo sapiens solute carrier family 22, member 24 (SLC22A24), mRNA. kidney(1)|stomach(1) 2 TCCCGGTATCATTGTCAGACA 0.522000 20 8 0 0 0.335167 0 0 KCNA1 3736 broad.mit.edu 37 12 5021217 5021217 + Missense_Mutation SNP G A A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr12:5021217G>A uc001qnh.3 + 1 1778 c.673G>A c.(673-675)Gaa>Aaa p.E225K KCNA1_uc021qts.1_Missense_Mutation_p.E225K NM_000217 NP_000208 Q09470 KCNA1_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (KCNA1), mRNA. 225 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CTTCATCGTGGAAACGCTGTG 0.512000 14 42 0 0 0.847076 0 0 ZNF221 7638 broad.mit.edu 37 19 44470724 44470724 + Missense_Mutation SNP C T T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr19:44470724C>T uc002oxx.2 + 5 1398 c.1070C>T c.(1069-1071)tCc>tTc p.S357F ZNF221_uc010ejb.1_Missense_Mutation_p.S357F|ZNF221_uc010xws.1_Missense_Mutation_p.S357F NM_013359 NP_037491 Q9UK13 ZN221_HUMAN Homo sapiens zinc finger protein 221 (ZNF221), mRNA. 357 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S357F(2) central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 Prostate(69;0.0352) AATAGTCATTCCATGGTCCAC 0.413000 81 102 0 0 0.870114 0 0 PTGIR 5739 broad.mit.edu 37 19 47124917 47124917 + Missense_Mutation SNP T G G TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr19:47124917T>G uc002pex.3 - 2 894 c.781A>C c.(781-783)Acc>Ccc p.T261P NM_000960 NP_000951 P43119 PI2R_HUMAN Homo sapiens prostaglandin I2 (prostacyclin) receptor (IP) (PTGIR), mRNA. 261 G-protein signaling, coupled to cyclic nucleotide second messenger|cell-cell signaling|platelet activation integral to plasma membrane G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 13 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331) Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929) ACAGCCTGGGTGAAGCAGCGG 0.637000 16 29 0 0 0.769981 0 0 OR13H1 347468 broad.mit.edu 37 X 130678233 130678233 + Silent SNP C T T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chrX:130678233C>T uc011muw.2 + 0 186 c.186C>T c.(184-186)ttC>ttT p.F62F IGSF1_uc004ewf.2_Intron NM_001004486 NP_001004486 Q8NG92 O13H1_HUMAN Homo sapiens olfactory receptor, family 13, subfamily H, member 1 (OR13H1), mRNA. 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 15 Acute lymphoblastic leukemia(192;0.000636) TCTACTTCTTCCTTAGTAACC 0.433000 32 52 0 0 0.870114 0 0 LTBP2 4053 broad.mit.edu 37 14 74972782 74972782 + Silent SNP C T T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr14:74972782C>T uc001xqa.3 - 27 4533 c.4146G>A c.(4144-4146)caG>caA p.Q1382Q NM_000428 NP_000419 Q14767 LTBP2_HUMAN Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA. 1382 EGF-like 16; calcium-binding (Potential). protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) AGTGCCCCTCCTGGGCATCGT 0.627000 63 62 0 0 0.870114 0 0 CORIN 10699 broad.mit.edu 37 4 47663875 47663875 + Splice_Site SNP T C C TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr4:47663875T>C uc003gxm.3 - 12 1683 c.1590_splice c.e12-1 p.R530_splice CORIN_uc011bzf.2_Splice_Site_p.R391_splice|CORIN_uc011bzg.2_Splice_Site_p.R463_splice|CORIN_uc011bzh.1_Splice_Site_p.R493_splice|CORIN_uc011bzi.1_Intron NM_006587 NP_006578 Q9Y5Q5 CORIN_HUMAN Homo sapiens corin, serine peptidase (CORIN), mRNA. 530 FZ 2. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 CACAATGCCCTAGATGAACAA 0.408000 17 4 0 0 0.217242 0 0 KIR3DL3 115653 broad.mit.edu 37 19 55239263 55239263 + Missense_Mutation SNP C T T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr19:55239263C>T uc002qgu.1 + 3 560 c.542C>T c.(541-543)tCc>tTc p.S181F NM_153443 NP_703144 Q8N743 KI3L3_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 (KIR3DL3), mRNA. 181 Ig-like C2-type 2. integral to membrane|plasma membrane receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1) 21 GBM - Glioblastoma multiforme(193;0.0192) GTCAACTATTCCATGGGTCCC 0.572000 56 69 0 0 0.870114 0 0 GFRAL 389400 broad.mit.edu 37 6 55216368 55216368 + Missense_Mutation SNP G A A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr6:55216368G>A uc003pcm.1 + 4 774 c.688G>A c.(688-690)Gat>Aat p.D230N NM_207410 NP_997293 Q6UXV0 GFRAL_HUMAN Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA. 230 integral to membrane receptor activity NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 48 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) CTGCCAAAATGATGAATTATG 0.423000 28 10 0 0 0.411799 0 0 NLRC5 84166 broad.mit.edu 37 16 57060787 57060787 + Silent SNP C T T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr16:57060787C>T uc021tiu.1 + 4 2059 c.1932C>T c.(1930-1932)ttC>ttT p.F644F NLRC5_uc021tit.1_Silent_p.F644F|NLRC5_uc010ccq.1_Non-coding_Transcript|NLRC5_uc021tiv.1_Silent_p.F449F|NLRC5_uc021tiw.1_Silent_p.F449F|NLRC5_uc010ccr.1_Non-coding_Transcript NM_032206 NP_115582 Q86WI3 NLRC5_HUMAN Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA. 644 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) TCCACAATTTCCCACTGACCT 0.587000 68 70 0 0 0.870114 0 0 KCNQ1 3784 broad.mit.edu 37 11 2592606 2592606 + Missense_Mutation SNP G A A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr11:2592606G>A uc001lwn.3 + 3 764 c.656G>A c.(655-657)gGg>gAg p.G219E KCNQ1_uc009ydp.1_Intron|KCNQ1_uc001lwo.3_Missense_Mutation_p.G92E NM_000218 NP_000209 P51787 KCNQ1_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA. 219 blood circulation|membrane depolarization|muscle contraction|sensory perception of sound delayed rectifier potassium channel activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2) 21 all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159) BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131) Bepridil(DB01244)|Indapamide(DB00808) GGCTCCAAGGGGCAGGTGTTT 0.677000 63 30 0 0 0.788014 0 0 ZNF761 388561 broad.mit.edu 37 19 53959186 53959187 + Missense_Mutation DNP CC GT GT TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr19:53959186_53959187CC>GT uc010eqp.3 + 6 1883_1884 c.1425_1426CC>GT c.(1423-1428)ttccgt>ttGTgt p.475_476FR>LC ZNF761_uc010ydy.2_Missense_Mutation_p.421_422FR>LC|ZNF761_uc002qbt.2_Missense_Mutation_p.421_422FR>LC NM_001008401 NP_001008401 Q86XN6 ZN761_HUMAN Homo sapiens zinc finger protein 761 (ZNF761), mRNA. 475 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) ACAAAGCTTTCCGTTTCAAATC 0.421000 72 38 0 0 0.115264 0 0 TSPAN14 81619 broad.mit.edu 37 10 82272022 82272022 + Silent SNP T A A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr10:82272022T>A uc001kcj.4 + 5 680 c.573T>A c.(571-573)ccT>ccA p.P191P TSPAN14_uc009xss.3_Silent_p.P68P|TSPAN14_uc001kci.4_Silent_p.P174P NM_030927 NP_112189 Q8NG11 TSN14_HUMAN Homo sapiens tetraspanin 14 (TSPAN14), transcript variant 1, mRNA. 191 integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1) 7 Colorectal(32;0.229) TGCCAGATCCTGCGGTGAGTT 0.597000 6 21 0 0 0.639603 0 0 MMP12 4321 broad.mit.edu 37 11 102745631 102745631 + Missense_Mutation SNP C T T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr11:102745631C>T uc001phk.3 - 0 134 c.37G>A c.(37-39)Gct>Act p.A13T NM_002426 NP_002417 P39900 MMP12_HUMAN Homo sapiens matrix metallopeptidase 12 (macrophage elastase) (MMP12), mRNA. 13 positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) GCTCCAGAAGCAGTGGCCTGC 0.408000 10 5 0 0 0.278610 0 0 GABRA5 2558 broad.mit.edu 37 15 27128562 27128562 + Missense_Mutation SNP C T T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr15:27128562C>T uc001zbd.2 + 5 887 c.355C>T c.(355-357)Cct>Tct p.P119S GABRB3_uc001zbb.3_Intron|GABRA5_uc021sgi.1_Missense_Mutation_p.P119S NM_000810 NP_001158509 P31644 GBRA5_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 5 (GABRA5), transcript variant 1, mRNA. 119 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1) 49 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GCAGCGCCTCCCTCTCAACAA 0.532000 55 59 0 0 0.870114 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121653532 121653532 + Missense_Mutation SNP T A A rs144360433 byFrequency TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr7:121653532T>A uc003vjy.3 + 11 4827 c.4432T>A c.(4432-4434)Tct>Act p.S1478T PTPRZ1_uc011knt.2_Intron|PTPRZ1_uc003vjz.3_Intron NM_002851 NP_002842 P23471 PTPRZ_HUMAN Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA. 1478 central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 ATACTCACTATCTGAGAATTC 0.393000 61 56 0 0 0.870114 0 0 CCKBR 887 broad.mit.edu 37 11 6291015 6291015 + Missense_Mutation SNP A T T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr11:6291015A>T uc001mcp.3 + 1 523 c.268A>T c.(268-270)Aat>Tat p.N90Y CCKBR_uc001mcq.3_Missense_Mutation_p.N18Y|CCKBR_uc001mcr.3_Missense_Mutation_p.N90Y|CCKBR_uc001mcs.3_Missense_Mutation_p.N90Y NM_176875 NP_795344 P32239 GASR_HUMAN Homo sapiens cholecystokinin B receptor (CCKBR), mRNA. 90 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception 1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139) Pentagastrin(DB00183) GACTGTCACCAATGCCTTCCT 0.552000 117 50 0 0 0.870114 0 0 CALCR 799 broad.mit.edu 37 7 93108821 93108821 + Splice_Site SNP T C C TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr7:93108821T>C uc003umv.2 - 5 406 c.106_splice c.e5-1 p.H36_splice CALCR_uc003umt.1_Splice_Site|CALCR_uc003ums.1_Splice_Site|CALCR_uc022ahi.1_Splice_Site_p.H18_splice|CALCR_uc003umw.2_Splice_Site_p.H18_splice NM_001164737 NP_001158209 P30988 CALCR_HUMAN Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA. 18 activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin receptor activity|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3) 45 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) GGTTGGGTGCTGTATTAAAAA 0.363000 67 54 0 0 0.870114 0 0 WDR3 10885 broad.mit.edu 37 1 118495284 118495284 + Splice_Site SNP T C C TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr1:118495284T>C uc010oxe.1 + 19 2217 c.2151_splice c.e19+1 p.M717_splice WDR3_uc001ehi.2_Intron NM_006784 NP_006775 Q9UNX4 WDR3_HUMAN Homo sapiens WD repeat domain 3 (WDR3), mRNA. 717 nuclear membrane|nucleolus breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1) 49 Esophageal squamous(2;0.162) all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244) OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185) GAAAGGGAGATGGTAAGAACT 0.448000 68 27 0 0 0.804634 0 0 MAP2K1 5604 broad.mit.edu 37 15 66729162 66729162 + Missense_Mutation SNP C T T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr15:66729162C>T uc010bhq.3 + 2 845 c.370C>T c.(370-372)Ccg>Tcg p.P124S MAP2K1_uc010ujp.2_Missense_Mutation_p.P102S NM_002755 NP_002746 Q02750 MP2K1_HUMAN Homo sapiens mitogen-activated protein kinase kinase 1 (MAP2K1), mRNA. 124 Protein kinase. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|plasma membrane ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity p.P124S(12) endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1) 20 GTGCAACTCTCCGTACATCGT 0.507000 54 22 0 0 0.654019 0 0 LY6H 4062 broad.mit.edu 37 8 144239833 144239833 + Missense_Mutation SNP G A A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr8:144239833G>A uc003yxt.3 - 2 1118 c.371C>T c.(370-372)tCa>tTa p.S124L LY6H_uc011lka.2_Missense_Mutation_p.S86L|LY6H_uc011lkb.2_Missense_Mutation_p.S107L|LY6H_uc011lkc.2_Missense_Mutation_p.S107L O94772 LY6H_HUMAN Homo sapiens lymphocyte antigen 6 complex, locus H (LY6H), transcript variant 3, mRNA. 86 nervous system development|organ morphogenesis anchored to membrane|plasma membrane endometrium(1)|lung(1)|stomach(2) 4 all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) CAGATAGTCTGAGAAAAAGTG 0.547000 107 5 0 0 0.217242 0 0 TEAD4 7004 broad.mit.edu 37 12 3147221 3147221 + Missense_Mutation SNP A G G TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr12:3147221A>G uc010sej.2 + 10 1277 c.985A>G c.(985-987)Acc>Gcc p.T329A TEAD4_uc010sek.2_Missense_Mutation_p.T286A|TEAD4_uc001qln.3_Missense_Mutation_p.T200A NM_201443 NP_958851 Q15561 TEAD4_HUMAN Homo sapiens TEA domain family member 4 (TEAD4), transcript variant 3, mRNA. 329 hippo signaling cascade|muscle organ development|skeletal system development DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 10 Ovarian(42;0.211) OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831) CATGATCATCACCTGCTCCAC 0.587000 34 21 0 0 0.608945 0 0 MGC70870 403340 broad.mit.edu 37 GL000205.1 117561 117561 + RNA SNP C T T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chrGL000205.1:117561C>T uc002kgk.4 + 0 c.939C>T Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA. GCATCCCGTCCGCAGCCGTGG 0.617000 23 4 0 0 0.184627 0 0 DSG4 147409 broad.mit.edu 37 18 28971146 28971146 + Missense_Mutation SNP G A A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr18:28971146G>A uc002kwr.2 + 6 925 c.790G>A c.(790-792)Gat>Aat p.D264N DSG4_uc002kwq.2_Missense_Mutation_p.D264N NM_001134453 NP_001127925 Q86SJ6 DSG4_HUMAN Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA. 264 Cadherin 2. Missing (in LAH1). homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) AGACGTCAACGATAATTTCCC 0.388000 48 52 0 0 0.870114 0 0 EDNRA 1909 broad.mit.edu 37 4 148460990 148460990 + Missense_Mutation SNP G A A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr4:148460990G>A uc003iky.3 + 5 1452 c.922G>A c.(922-924)Gtt>Att p.V308I EDNRA_uc011cid.2_Missense_Mutation_p.V83I|EDNRA_uc010ipg.2_Missense_Mutation_p.V199I|EDNRA_uc010ipf.1_Non-coding_Transcript NM_001957 NP_001948 P25101 EDNRA_HUMAN Homo sapiens endothelin receptor type A (EDNRA), transcript variant 1, mRNA. 308 activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange integral to plasma membrane endothelin-A receptor activity|phosphatidylinositol phospholipase C activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1) 17 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.154) Bosentan(DB00559) GGCAAAAACAGTTTTCTGCTT 0.363000 55 41 0 0 0.870114 0 0 CP 1356 broad.mit.edu 37 3 148924059 148924059 + Silent SNP C T T rs142503847 TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr3:148924059C>T uc003ewy.4 - 5 1357 c.1104G>A c.(1102-1104)ggG>ggA p.G368G CP_uc011bnr.2_Non-coding_Transcript|CP_uc003ewx.4_Silent_p.G149G|CP_uc003ewz.3_Silent_p.G368G|CP_uc010hvf.1_Silent_p.G94G NM_000096 NP_000087 P00450 CERU_HUMAN Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA. 368 cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) TAACATGCTTCCCACGGATAT 0.423000 53 59 0 0 0.870114 0 0 UGT1A1 54658 broad.mit.edu 37 2 234545533 234545533 + Missense_Mutation SNP C T T rs145610800 TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr2:234545533C>T uc002vur.3 + 0 411 c.365C>T c.(364-366)tCg>tTg p.S122L UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Missense_Mutation_p.S122L NM_019075 NP_061948 P22309 UD11_HUMAN Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A10 (UGT1A10), mRNA. 125 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) TTATTTTTTTCGCATTGCAGG 0.363000 119 17 0 0 0.608945 0 0 SPEF1 25876 broad.mit.edu 37 20 3759160 3759160 + Missense_Mutation SNP C T T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr20:3759160C>T uc002wjj.3 - 5 679 c.511G>A c.(511-513)Gcg>Acg p.A171T NM_015417 NP_056232 Q9Y4P9 SPEF1_HUMAN Homo sapiens sperm flagellar 1 (SPEF1), mRNA. 171 cilium axoneme|cytoplasm|cytoskeleton cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 8 CGGTTATACGCTGGAGGCCGA 0.672000 5 10 0 0 0.387290 0 0 RGNEF 64283 broad.mit.edu 37 5 73168939 73168939 + Silent SNP C T T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr5:73168939C>T uc010izf.3 + 21 2858 c.2682C>T c.(2680-2682)ttC>ttT p.F894F RGNEF_uc011csq.2_Silent_p.F894F|RGNEF_uc021yam.1_Silent_p.F894F|RGNEF_uc011csr.2_Silent_p.F581F NM_001080479 NP_001073948 Q8N1W1 RGNEF_HUMAN Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA. 894 DH. cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction cytoplasm|plasma membrane RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;1.25e-51) ATAAAATTTTCCCCTGTTTAG 0.468000 16 10 0 0 0.411799 0 0 TUBB8 347688 broad.mit.edu 37 10 93851 93851 + Missense_Mutation SNP C T T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr10:93851C>T uc001ifi.2 - 3 481 c.481G>A c.(481-483)Gac>Aac p.D161N NM_177987 NP_817124 Q3ZCM7 TBB8_HUMAN Homo sapiens tubulin, beta 8 class VIII (TUBB8), transcript variant 1, mRNA. 161 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity p.P160Q(1) NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1) 32 all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235) Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132) ATGATCCTGTCTGGGTACTCC 0.597000 75 33 0 0 0.870114 0 0 ZNF792 126375 broad.mit.edu 37 19 35449284 35449284 + Missense_Mutation SNP C T T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr19:35449284C>T uc002nxh.1 - 3 1862 c.1475G>A c.(1474-1476)aGc>aAc p.S492N NM_175872 NP_787068 Q3KQV3 ZN792_HUMAN Homo sapiens zinc finger protein 792 (ZNF792), mRNA. 492 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5) 12 all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GCTATTGAGGCTGGAGCTCTG 0.493000 30 61 0 0 0.870114 0 0 TPTE2P6 374491 broad.mit.edu 37 13 25161457 25161457 + RNA SNP G A A rs1851732 by1000genomes TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr13:25161457G>A uc001upm.3 + 7 c.981G>A TPTE2P6_uc001upn.3_Non-coding_Transcript|TPTE2P6_uc001upo.3_Non-coding_Transcript Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 6 (TPTE2P6), non-coding RNA. TTATTTATTCGATTCGTGGTA 0.378000 42 4 0 0 0.217242 0 0 MYT1L 23040 broad.mit.edu 37 2 1926514 1926514 + Missense_Mutation SNP C T T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr2:1926514C>T uc002qxe.3 - 9 1854 c.1027G>A c.(1027-1029)Gag>Aag p.E343K MYT1L_uc002qxd.3_Missense_Mutation_p.E343K|MYT1L_uc010ewl.2_Non-coding_Transcript NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA. 343 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) GGGTTGGTCTCACTGAGCTTC 0.557000 37 7 0 0 0.278610 0 0 FBXW8 26259 broad.mit.edu 37 12 117461999 117461999 + Missense_Mutation SNP C T T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr12:117461999C>T uc001twg.1 + 8 1497 c.1415C>T c.(1414-1416)tCc>tTc p.S472F FBXW8_uc001twf.1_Missense_Mutation_p.S406F NM_153348 NP_699179 Q8N3Y1 FBXW8_HUMAN Homo sapiens F-box and WD repeat domain containing 8 (FBXW8), transcript variant 1, mRNA. 472 protein binding endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 22 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0353) CTGTCGCTCTCCGCCCATCAG 0.577000 11 43 0 0 0.870114 0 0 ACSS3 79611 broad.mit.edu 37 12 81503432 81503432 + Silent SNP T C C TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr12:81503432T>C uc001szl.1 + 1 496 c.405T>C c.(403-405)agT>agC p.S135S ACSS3_uc001szm.1_Silent_p.S134S NM_024560 NP_078836 Q9H6R3 ACSS3_HUMAN Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA. 135 mitochondrion ATP binding|acetate-CoA ligase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 TCTATGACAGTCCTGTTACAA 0.313000 15 43 0 0 0.870114 0 0 SNCAIP 9627 broad.mit.edu 37 5 121780306 121780306 + Missense_Mutation SNP G A A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr5:121780306G>A uc003ksw.1 + 7 1677 c.1471G>A c.(1471-1473)Gaa>Aaa p.E491K SNCAIP_uc011cwl.1_Missense_Mutation_p.E49K|SNCAIP_uc003ksy.1_Missense_Mutation_p.E125K|SNCAIP_uc003ksx.1_Missense_Mutation_p.E538K|SNCAIP_uc003ksz.1_Missense_Mutation_p.E125K|SNCAIP_uc010jcu.2_Missense_Mutation_p.E87K|SNCAIP_uc011cwm.1_Missense_Mutation_p.E125K|SNCAIP_uc003kta.1_Missense_Mutation_p.E123K|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.E185K|SNCAIP_uc010jcx.1_Missense_Mutation_p.E431K|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Missense_Mutation_p.E7K NM_005460 NP_005451 Q9Y6H5 SNCAP_HUMAN Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA. 491 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) CCACGCTGGGGAAAAGCCCTC 0.537000 53 52 0 0 0.870114 0 0 MEGF8 1954 broad.mit.edu 37 19 42839252 42839252 + Silent SNP G A A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr19:42839252G>A uc002otl.4 + 3 1259 c.624G>A c.(622-624)gaG>gaA p.E208E MEGF8_uc002otm.4_5'Flank NM_001410 NP_001401 Q7Z7M0 MEGF8_HUMAN Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA. 208 integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) ACCTGTGGGAGAACCAGGGGG 0.642000 15 13 0 0 0.520397 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T rs121913377 TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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 72 34 0 0 0.827153 0 0 SLC1A7 6512 broad.mit.edu 37 1 53558324 53558324 + Silent SNP G A A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr1:53558324G>A uc021onn.1 - 6 1101 c.933C>T c.(931-933)atC>atT p.I311I SLC1A7_uc021onm.1_Silent_p.I239I|SLC1A7_uc001cux.3_5'Flank|SLC1A7_uc001cuy.3_Silent_p.I311I|SLC1A7_uc021ono.1_Non-coding_Transcript NM_006671 NP_006662 O00341 EAA5_HUMAN Homo sapiens solute carrier family 1 (glutamate transporter), member 7 (SLC1A7), mRNA. 311 integral to membrane|plasma membrane high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Colorectal(1306;0.234) L-Glutamic Acid(DB00142) GCAGGGGCAGGATAAAGAGCC 0.597000 44 24 0 0 0.706142 0 0 KNG1 3827 broad.mit.edu 37 3 186459342 186459342 + Missense_Mutation SNP C T T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr3:186459342C>T uc011bsa.2 + 9 1391 c.1157C>T c.(1156-1158)tCa>tTa p.S386L KNG1_uc003fqr.3_Missense_Mutation_p.S386L|KNG1_uc021xil.1_Missense_Mutation_p.S350L NM_001102416 NP_001095886 P01042 KNG1_HUMAN Homo sapiens kininogen 1 (KNG1), transcript variant 1, mRNA. 386 blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation extracellular space|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2) 21 all_cancers(143;8.96e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.12e-20) GBM - Glioblastoma multiforme(93;0.0798) Ouabain(DB01092) CCAGGTTTTTCACCTTTCCGA 0.383000 27 39 0 0 0.870114 0 0 KYNU 8942 broad.mit.edu 37 2 143790836 143790836 + Silent SNP C T T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr2:143790836C>T uc010fnm.3 + 12 1203 c.987C>T c.(985-987)ttC>ttT p.F329F KYNU_uc002tvl.3_Silent_p.F329F NM_001199241 NP_001186170 Q16719 KYNU_HUMAN Homo sapiens kynureninase (KYNU), transcript variant 3, mRNA. 329 NAD biosynthetic process|anthranilate metabolic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4) 36 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) TCTGTGGATTCCGAATTTCAA 0.373000 131 139 0 0 0.870114 0 0 PGLYRP3 114771 broad.mit.edu 37 1 153270485 153270485 + Missense_Mutation SNP G A A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr1:153270485G>A uc001fbn.1 - 6 1026 c.973C>T c.(973-975)Cct>Tct p.P325S NM_052891 NP_443123 Q96LB9 PGRP3_HUMAN Homo sapiens peptidoglycan recognition protein 3 (PGLYRP3), mRNA. 325 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 28 all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GCCTGCCCAGGGGACAGGATG 0.597000 261 58 0 0 0.870114 0 0 SH3BP1 23616 broad.mit.edu 37 22 38041502 38041502 + Missense_Mutation SNP G T T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr22:38041502G>T uc003ati.3 + 9 1647 c.909G>T c.(907-909)gaG>gaT p.E303D SH3BP1_uc003atg.1_Non-coding_Transcript|SH3BP1_uc011anl.1_Missense_Mutation_p.E303D|SH3BP1_uc003ath.1_Missense_Mutation_p.E303D|SH3BP1_uc003atj.1_Missense_Mutation_p.E239D|SH3BP1_uc003atk.1_Missense_Mutation_p.E217D|AK097791_uc003atl.1_Intron NM_018957 NP_061830 Q9Y3L3 3BP1_HUMAN Homo sapiens SH3-domain binding protein 1 (SH3BP1), mRNA. 303 Rho-GAP. signal transduction cytoplasm GTPase activator activity|SH3 domain binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Melanoma(58;0.0574) TGCTTTCTGAGGGCATGAAGG 0.647000 59 30 1.42033e-22 1.54277e-22 0.796494 1 0 CDK12 51755 broad.mit.edu 37 17 37665992 37665992 + Missense_Mutation SNP C T T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr17:37665992C>T uc010cvv.3 + 6 3230 c.2644C>T c.(2644-2646)Cgg>Tgg p.R882W CDK12_uc010wef.1_Missense_Mutation_p.R881W|CDK12_uc002hrw.4_Missense_Mutation_p.R882W NM_016507 NP_057591 Q9NYV4 CDK12_HUMAN Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA. 882 Protein kinase. RNA splicing|mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding p.R882R(2)|p.R882L(1) NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 TGGACTTGCTCGGCTCTATAA 0.348000 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 72 41 0 0 0.870114 0 0 DSG3 1830 broad.mit.edu 37 18 29054229 29054229 + Silent SNP C T T rs142612259 byFrequency TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr18:29054229C>T uc002kws.3 + 14 2356 c.2247C>T c.(2245-2247)ttC>ttT p.F749F DSG3_uc002kwt.3_Silent_p.F31F NM_001944 NP_001935 P32926 DSG3_HUMAN Homo sapiens desmoglein 3 (DSG3), mRNA. 749 cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CTTCAGGATTCGGAGCAGCCA 0.537000 31 25 0 0 0.681144 0 0 RECK 8434 broad.mit.edu 37 9 36118962 36118962 + Missense_Mutation SNP C T T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr9:36118962C>T uc003zyv.3 + 17 2548 c.2462C>T c.(2461-2463)cCg>cTg p.P821L RECK_uc003zyw.3_Missense_Mutation_p.P693L|RECK_uc003zyx.3_Non-coding_Transcript NM_021111 NP_066934 O95980 RECK_HUMAN Homo sapiens reversion-inducing-cysteine-rich protein with kazal motifs (RECK), mRNA. 821 anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228) ATCATCCCACCGGGTAGGCTG 0.557000 55 27 0 0 0.729181 0 0 KIAA2022 340533 broad.mit.edu 37 X 73963375 73963375 + Silent SNP G T T TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chrX:73963375G>T uc004eby.3 - 2 1634 c.1017C>A c.(1015-1017)ccC>ccA p.P339P NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN Homo sapiens KIAA2022 (KIAA2022), mRNA. 339 DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 TAAAGACGCTGGGAAAAAAGT 0.458000 22 39 3.61848e-18 3.8638e-18 0.834066 1 0 GABRB3 2562 broad.mit.edu 37 15 26806278 26806278 + Missense_Mutation SNP C A A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr15:26806278C>A uc001zbb.3 - 8 1152 c.1049G>T c.(1048-1050)cGg>cTg p.R350L GABRB3_uc021sgg.1_Missense_Mutation_p.R223L|GABRB3_uc021sgh.1_Missense_Mutation_p.R209L|GABRB3_uc001zaz.3_Missense_Mutation_p.R294L|GABRB3_uc001zba.3_Missense_Mutation_p.R294L NM_001191320 NP_001178249 P28472 GBRB3_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA. 294 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity p.R294L(2)|p.R350L(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 68 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) CAAGGTCTCCCGAAGGTGGGT 0.478000 125 5 1.23904e-05 1.27966e-05 0.184627 1 0 CHN1 1123 broad.mit.edu 37 2 175742832 175742832 + Silent SNP G A A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr2:175742832G>A uc002uji.3 - 5 626 c.285C>T c.(283-285)ttC>ttT p.F95F CHN1_uc010zeq.2_Silent_p.F95F|CHN1_uc002ujj.3_Intron NM_001822 NP_001813 P15882 CHIN_HUMAN Homo sapiens chimerin (chimaerin) 1 (CHN1), transcript variant 1, mRNA. 95 SH2. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.226) AGTAGAGCCTGAAGTTTCTGG 0.383000 T TAF15 extraskeletal myxoid chondrosarcoma 10 17 0 0 0.624587 0 0 PDS5B 23047 broad.mit.edu 37 13 33306319 33306319 + Silent SNP G A A TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr13:33306319G>A uc010abf.3 + 19 2391 c.2205G>A c.(2203-2205)gcG>gcA p.A735A PDS5B_uc010abg.3_Non-coding_Transcript NM_015032 NP_055847 Q9NTI5 PDS5B_HUMAN Homo sapiens PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) (PDS5B), mRNA. 735 cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding p.A735A(2) NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 62 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) GTATCCATGCGATATTTTCTA 0.313000 30 15 0 0 0.539581 0 0 ASXL2 55252 broad.mit.edu 37 2 26022304 26022306 + In_Frame_Del DEL CTG - - TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr2:26022304_26022306delCTG uc002rgs.2 - 3 572_574 c.351_353delCAG c.(349-354)agcagt>agt p.117_118SS>S NM_018263 NP_060733 Q76L83 ASXL2_HUMAN Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA. 117 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCACCATCACTGCTGCTGCTGC 0.463 --- 221 --- --- 7 --- CEP290 80184 broad.mit.edu 37 12 88512305 88512305 + Frame_Shift_Del DEL T - - rs77980773 TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr12:88512305delT uc001tar.3 - 16 2010 c.1666delA c.(1666-1668)attfs p.I556fs CEP290_uc001tat.3_Frame_Shift_Del_p.I318fs|CEP290_uc009zsl.1_Non-coding_Transcript NM_025114 NP_079390 O15078 CE290_HUMAN Homo sapiens centrosomal protein 290kDa (CEP290), mRNA. 556 G2/M transition of mitotic cell cycle|cilium assembly|eye photoreceptor cell development|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding p.I558fs*20(1) breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 73 ATTTGACGAATTTTTTTTTTC 0.308 --- 4 --- --- 2 --- ZNF382 84911 broad.mit.edu 37 19 37117823 37117823 + Frame_Shift_Del DEL C - - TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr19:37117823delC uc002oek.3 + 4 1137 c.1024delC c.(1024-1026)catfs p.H342fs ZNF382_uc010efa.3_Frame_Shift_Del_p.H293fs|ZNF382_uc010efb.3_Frame_Shift_Del_p.H341fs|ZNF382_uc002oel.3_Frame_Shift_Del_p.H341fs NM_032825 NP_116214 Q96SR6 ZN382_HUMAN Homo sapiens zinc finger protein 382 (ZNF382), mRNA. 342 Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 34 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) CCTCACCCTTCATGAGAAAAC 0.448 --- 46 --- --- 95 --- CTCFL 140690 broad.mit.edu 37 20 56099187 56099187 + Frame_Shift_Del DEL T - - TCGA-BF-A3DN-01A-11D-A20D-08 TCGA-BF-A3DN-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32441c2f-4c8e-45de-b036-06334326c86e c7e56ac3-77aa-41c3-8e87-df6582f27643 g.chr20:56099187delT uc010giw.1 - 1 186 c.75delA c.(73-75)aaafs p.K25fs CTCFL_uc010gix.1_Frame_Shift_Del_p.K25fs|CTCFL_uc002xym.2_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjb.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gja.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjc.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjd.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gje.3_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjg.3_Intron|CTCFL_uc010gjf.3_Intron|CTCFL_uc010gjh.2_Frame_Shift_Del_p.K25fs|CTCFL_uc010gji.2_Intron|CTCFL_uc010gjj.2_Frame_Shift_Del_p.K25fs|CTCFL_uc021wfe.1_Frame_Shift_Del_p.K25fs|CTCFL_uc021wff.1_Intron|CTCFL_uc021wfg.1_Intron|CTCFL_uc010gjk.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjl.1_Frame_Shift_Del_p.K25fs NM_080618 NP_542185 Q8NI51 CTCFL_HUMAN Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA. 25 DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) CCTTCAGGCCTTTTTCCGGCA 0.502 --- 722 --- --- 7 ---