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 DNAH5 1767 broad.mit.edu 37 5 13766132 13766132 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr5:13766132C>T uc003jfd.2 - 58 10096 c.10054G>A c.(10054-10056)Gaa>Aaa p.E3352K DNAH5_uc003jfc.2_5'UTR NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3352 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TTTAAGGATTCCTGCCAGGAG 0.448000 Kartagener syndrome 70 27 0 0 0.005443 0 0 TAOK3 51347 broad.mit.edu 37 12 118588821 118588821 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr12:118588821G>A uc001twx.3 - 20 2973 c.2678C>T c.(2677-2679)cCt>cTt p.P893L TAOK3_uc001twv.3_Missense_Mutation_p.P433L|TAOK3_uc001tww.3_Missense_Mutation_p.P723L|TAOK3_uc001twy.4_Missense_Mutation_p.P893L NM_016281 NP_057365 Q9H2K8 TAOK3_HUMAN Homo sapiens TAO kinase 3 (TAOK3), mRNA. 893 MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation mitochondrion|plasma membrane ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity central_nervous_system(1)|lung(5)|skin(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GTCCTCCTTAGGAAAATCTAA 0.338000 57 18 0 0 0.010504 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140725195 140725195 + Missense_Mutation SNP T G G TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr5:140725195T>G uc003ljm.2 + 0 1595 c.1595T>G c.(1594-1596)gTg>gGg p.V532G PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.V532G NM_018916 NP_061739 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA. 534 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAGCTACTGGTGACAGCCAGC 0.572000 98 17 0 0 0.007413 0 0 LIPN 643418 broad.mit.edu 37 10 90526048 90526048 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr10:90526048G>A uc010qmw.2 + 3 448 c.448G>A c.(448-450)Gat>Aat p.D150N NM_001102469 NP_001095939 Q5VXI9 LIPN_HUMAN Homo sapiens lipase, family member N (LIPN), mRNA. 150 lipid catabolic process extracellular region hydrolase activity endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1) 9 Colorectal(252;0.0161) Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05) GGCCAAATATGATCTCCCAGG 0.333000 58 18 0 0 0.010504 0 0 STXBP5L 9515 broad.mit.edu 37 3 120957823 120957823 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr3:120957823C>T uc003eec.4 + 12 1330 c.1190C>T c.(1189-1191)cCa>cTa p.P397L STXBP5L_uc011bji.2_Missense_Mutation_p.P397L NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA. 397 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) ATTAGTTTTCCAATCTTTGAA 0.308000 26 7 0 0 0.003080 0 0 OR1D2 4991 broad.mit.edu 37 17 2996197 2996197 + Silent SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr17:2996197G>A uc010vrb.2 - 0 94 c.94C>T c.(94-96)Ctg>Ttg p.L32L NM_002548 NP_002539 P34982 OR1D2_HUMAN Homo sapiens olfactory receptor, family 1, subfamily D, member 2 (OR1D2), mRNA. 32 cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity kidney(2)|large_intestine(2)|lung(10)|ovary(1) 15 TACATGGACAGGAACATCCAA 0.552000 54 29 0 0 0.007291 0 0 TBL2 26608 broad.mit.edu 37 7 72985206 72985206 + Silent SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr7:72985206G>A uc003tyh.3 - 6 1109 c.975C>T c.(973-975)cgC>cgT p.R325R TBL2_uc011kex.2_Silent_p.R289R|TBL2_uc010lbg.3_Silent_p.R230R|TBL2_uc003tyi.3_Silent_p.R160R|TBL2_uc011key.2_Silent_p.R196R NM_012453 NP_036585 Q9Y4P3 TBL2_HUMAN Homo sapiens transducin (beta)-like 2 (TBL2), mRNA. 325 p.G324V(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 19 Lung NSC(55;0.0659)|all_lung(88;0.152) CCTCTTCAAAGCGGCCTGTCT 0.577000 87 38 0 0 0.007835 0 0 RAMP3 10268 broad.mit.edu 37 7 45216990 45216990 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr7:45216990G>A uc003tnb.3 + 1 202 c.141G>A c.(139-141)atG>atA p.M47I NM_005856 NP_005847 O60896 RAMP3_HUMAN Homo sapiens receptor (G protein-coupled) activity modifying protein 3 (RAMP3), mRNA. 47 intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway integral to plasma membrane|lysosome protein transporter activity breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1) 11 Pramlintide(DB01278) TCGCAGACATGATGGGCAAGG 0.617000 58 12 0 0 0.013537 0 0 MIR1283-2 100302205 broad.mit.edu 37 19 54261547 54261547 + RNA SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr19:54261547C>T uc021vax.1 + 0 c.62C>T Homo sapiens microRNA 1283-2 (MIR1283-2), microRNA. GAAATCGCTTCCCTTTGGAGT 0.448000 58 12 0 0 0.013537 0 0 FAM83A 84985 broad.mit.edu 37 8 124206317 124206317 + Silent SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr8:124206317G>A uc003ypv.3 + 3 2716 c.702G>A c.(700-702)agG>agA p.R234R FAM83A_uc003ypw.3_Silent_p.R234R|FAM83A_uc003ypx.3_Silent_p.R234R|FAM83A_uc003ypy.3_Silent_p.R178R|FAM83A_uc003ypz.3_Silent_p.R234R NM_032899 NP_116288 Q86UY5 FA83A_HUMAN Homo sapiens family with sequence similarity 83, member A (FAM83A), transcript variant 1, mRNA. 234 breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1) 17 Lung NSC(37;1.55e-09)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) AGTCAGGCAGGAAATTCGCTG 0.473000 59 14 0 0 0.002450 0 0 TTN 7273 broad.mit.edu 37 2 179588856 179588856 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:179588856G>A uc021vsy.1 - 69 17623 c.17398C>T c.(17398-17400)Ccc>Tcc p.P5800S TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P2461S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 6727 Ig-like 39. 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) GTGAAAGAGGGAGGAACTGCT 0.418000 11 7 0 0 0.003080 0 0 PPARG 5468 broad.mit.edu 37 3 12458329 12458329 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr3:12458329C>T uc003bwx.3 + 5 1037 c.946C>T c.(946-948)Cgc>Tgc p.R316C PPARG_uc003bwr.3_Missense_Mutation_p.R288C|PPARG_uc003bws.3_Missense_Mutation_p.R288C|PPARG_uc003bwu.3_Missense_Mutation_p.R288C|PPARG_uc003bwv.3_Intron|PPARG_uc010hea.1_Non-coding_Transcript NM_015869 NP_619726 P37231 PPARG_HUMAN Homo sapiens peroxisome proliferator-activated receptor gamma (PPARG), transcript variant 2, mRNA. 316 R -> H (in colon cancer; sporadic; somatic mutation; partial loss of ligand- binding; dbSNP:rs28936407). activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation cytosol|nucleoplasm activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding PAX8/PPARG(117) breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197) CTGCCAGTTTCGCTCCGTGGA 0.478000 T PAX8 follicular thyroid """Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension""" 265 111 0 0 0.014410 0 0 S100A10 6281 broad.mit.edu 37 1 151958577 151958577 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr1:151958577C>T uc001ezl.3 - 1 638 c.130G>A c.(130-132)Gaa>Aaa p.E44K NM_002966 NP_002957 P60903 S10AA_HUMAN Homo sapiens S100 calcium binding protein A10 (S100A10), mRNA. 44 signal transduction calcium ion binding|receptor binding breast(1)|kidney(1)|lung(2)|ovary(2) 6 Melanoma(130;0.0648)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) ACACTTACTTCCAAAAATCCA 0.418000 87 10 0 0 0.010729 0 0 GCOM1 145781 broad.mit.edu 37 15 57925811 57925811 + Splice_Site SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr15:57925811G>A uc002aei.3 + 8 936 c.805_splice c.e8-1 p.E269_splice GCOM1_uc002aej.3_Splice_Site_p.E269_splice|GCOM1_uc002aek.3_Splice_Site|GCOM1_uc002ael.3_Splice_Site|GCOM1_uc002aem.3_Splice_Site_p.E269_splice|GCOM1_uc002aep.3_Splice_Site|GCOM1_uc010bfx.3_Splice_Site|GCOM1_uc002aeq.3_Splice_Site|GCOM1_uc002aen.3_Splice_Site|GCOM1_uc010bfy.3_Splice_Site|GCOM1_uc002aeo.3_Splice_Site_p.E269_splice NM_001018100 NP_001018110 P0CAP1 GCOM1_HUMAN Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA. 269 intracellular signal transduction I band|extrinsic to internal side of plasma membrane endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1) 18 TCTTTTGCAGGAAGAAACCAA 0.463000 54 17 0 0 0.006122 0 0 SH3GL3 6457 broad.mit.edu 37 15 84257443 84257443 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr15:84257443G>A uc002bjw.3 + 7 953 c.758G>A c.(757-759)cGa>cAa p.R253Q SH3GL3_uc010uot.1_Missense_Mutation_p.R253Q|SH3GL3_uc002bjx.3_Missense_Mutation_p.R184Q|SH3GL3_uc002bju.3_Missense_Mutation_p.R261Q|SH3GL3_uc002bjv.3_Non-coding_Transcript NM_003027 NP_003018 Q99963 SH3G3_HUMAN Homo sapiens SH3-domain GRB2-like 3 (SH3GL3), transcript variant 1, mRNA. 253 Interaction with ARC (By similarity). central nervous system development|endocytosis|signal transduction early endosome membrane identical protein binding|lipid binding central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 30 GTCCCCAGACGAGAATACAAG 0.458000 37 11 0 0 0.008291 0 0 OR51Q1 390061 broad.mit.edu 37 11 5443983 5443983 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr11:5443983G>A uc010qzd.2 + 0 643 c.553G>A c.(553-555)Gat>Aat p.D185N HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron NM_001004757 NP_001004757 Q8NH59 O51Q1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily Q, member 1 (OR51Q1), mRNA. 185 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 37 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCTCCACCAGGATATGATCCG 0.512000 108 46 0 0 0.014410 0 0 ANKS1A 23294 broad.mit.edu 37 6 34952961 34952961 + Missense_Mutation SNP C T T rs144301550 by1000genomes TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr6:34952961C>T uc003ojx.4 + 7 1257 c.1115C>T c.(1114-1116)tCg>tTg p.S372L ANKS1A_uc011dst.2_5'UTR|ANKS1A_uc010jvp.2_5'UTR NM_015245 NP_056060 Q92625 ANS1A_HUMAN Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1A (ANKS1A), mRNA. 372 cytoplasm protein binding cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 TCCTGCCATTCGTTGGACAGC 0.512000 34 12 0 0 0.001855 0 0 MMP17 4326 broad.mit.edu 37 12 132329987 132329987 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr12:132329987C>T uc001ujc.1 + 7 1296 c.1197C>T c.(1195-1197)ttC>ttT p.F399F MMP17_uc001ujd.1_Silent_p.F315F NM_016155 NP_057239 Q9ULZ9 MMP17_HUMAN Homo sapiens matrix metallopeptidase 17 (membrane-inserted) (MMP17), mRNA. 399 Hemopexin-like 2. proteolysis anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding endometrium(1)|large_intestine(3)|lung(1) 5 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05) AGATCGTCTTCTTTAAAGGTG 0.672000 18 5 0 0 0.000602 0 0 VWC2 375567 broad.mit.edu 37 7 49842344 49842344 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr7:49842344G>A uc003tot.1 + 2 1290 c.734G>A c.(733-735)gGt>gAt p.G245D NM_198570 NP_940972 Q2TAL6 VWC2_HUMAN Homo sapiens von Willebrand factor C domain containing 2 (VWC2), mRNA. 245 VWFC 2. negative regulation of BMP signaling pathway|positive regulation of neuron differentiation basement membrane|extracellular space cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1) 8 GAAGCCAACGGTGAGGTGCTA 0.522000 82 32 0 0 0.010818 0 0 GPR98 84059 broad.mit.edu 37 5 90004636 90004636 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr5:90004636G>A uc003kju.3 + 38 8830 c.8734G>A c.(8734-8736)Gat>Aat p.D2912N GPR98_uc003kjt.3_Missense_Mutation_p.D618N|GPR98_uc003kjv.3_Missense_Mutation_p.D512N NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 2912 Calx-beta 20. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TTTTCAGGATGATGTACCAGA 0.338000 54 17 0 0 0.004007 0 0 TCN2 6948 broad.mit.edu 37 22 31011344 31011344 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr22:31011344C>T uc003aip.2 + 4 886 c.637C>T c.(637-639)Cct>Tct p.P213S TCN2_uc003air.2_Missense_Mutation_p.P186S NM_000355 NP_000346 P20062 TCO2_HUMAN Homo sapiens transcobalamin II (TCN2), transcript variant 1, mRNA. 213 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular space cobalamin binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1) 22 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AAACTTCAACCCTGGTCGGAG 0.557000 47 14 0 0 0.002450 0 0 CNOT2 4848 broad.mit.edu 37 12 70724190 70724190 + Silent SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr12:70724190G>A uc001svv.3 + 5 1092 c.510G>A c.(508-510)tcG>tcA p.S170S CNOT2_uc009zro.3_Silent_p.S170S|CNOT2_uc009zrp.3_Silent_p.S150S|CNOT2_uc009zrq.3_Silent_p.S170S NM_014515 NP_055330 Q9NZN8 CNOT2_HUMAN Homo sapiens CCR4-NOT transcription complex, subunit 2 (CNOT2), transcript variant 2, mRNA. 170 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter cytosol|nucleus RNA polymerase II transcription cofactor activity|protein binding p.S170S(4) cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1) 20 Renal(347;0.236) GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118) ACAGAAGCTCGCCAAGCATAA 0.453000 55 8 0 0 0.004482 0 0 OR2F2 135948 broad.mit.edu 37 7 143632411 143632411 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr7:143632411C>T uc011ktv.2 + 0 86 c.86C>T c.(85-87)tCc>tTc p.S29F NM_001004685 NP_001004685 O95006 OR2F2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA. 29 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 32 Melanoma(164;0.0903) TCCCTGTTTTCCCTGTTCTTG 0.448000 86 70 0 0 0.014410 0 0 MYH4 4622 broad.mit.edu 37 17 10362600 10362600 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr17:10362600C>T uc002gmn.3 - 14 1666 c.1555G>A c.(1555-1557)Gac>Aac p.D519N AK097500_uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA. 519 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 GCAGCCAGGTCCATCCCGAAG 0.468000 56 14 0 0 0.006122 0 0 OR2A2 442361 broad.mit.edu 37 7 143807498 143807498 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr7:143807498C>T uc011ktz.2 + 0 823 c.823C>T c.(823-825)Ctg>Ttg p.L275L NM_001005480 NP_001005480 Q6IF42 OR2A2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA. 275 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S274Y(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4) 22 Melanoma(164;0.0783) AATGCTGTCCCTGTTTCACAG 0.512000 65 34 0 0 0.011902 0 0 DOCK4 9732 broad.mit.edu 37 7 111398733 111398733 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr7:111398733G>A uc003vfy.3 - 41 4653 c.4384C>T c.(4384-4386)Cgc>Tgc p.R1462C DOCK4_uc011kml.2_Missense_Mutation_p.R298C|DOCK4_uc011kmm.2_Missense_Mutation_p.R324C|DOCK4_uc003vfw.3_Missense_Mutation_p.R867C|DOCK4_uc003vfx.3_Missense_Mutation_p.R1417C NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA. 1417 DHR-2. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) CGGTCATAGCGGAATTTCCAG 0.438000 18 13 0 0 0.003163 0 0 RP1L1 94137 broad.mit.edu 37 8 10467849 10467849 + Silent SNP T C C TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr8:10467849T>C uc003wtc.3 - 3 3988 c.3759A>G c.(3757-3759)caA>caG p.Q1253Q NM_178857 NP_849188 A6NKC6 A6NKC6_HUMAN Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA. 1253 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) AACACTGCTGTTGGTTTTCCA 0.557000 43 15 0 0 0.003163 0 0 BDP1 55814 broad.mit.edu 37 5 70782429 70782429 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr5:70782429C>T uc003kbp.1 + 8 1451 c.1188C>T c.(1186-1188)tcC>tcT p.S396S BDP1_uc003kbn.1_Silent_p.S396S|BDP1_uc003kbo.3_Silent_p.S396S NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA. 396 Required for phosphorylation by CSNK2A1. regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) AGAAGAAATCCACCAAACCAC 0.318000 28 9 0 0 0.008291 0 0 ERBB4 2066 broad.mit.edu 37 2 212568876 212568876 + Silent SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:212568876G>A uc002veg.1 - 10 1340 c.1242C>T c.(1240-1242)ttC>ttT p.F414F ERBB4_uc002veh.1_Silent_p.F414F|ERBB4_uc010zji.1_Silent_p.F414F|ERBB4_uc010zjj.1_Silent_p.F414F|ERBB4_uc010fut.1_Silent_p.F414F NM_005235 NP_005226 Q15303 ERBB4_HUMAN Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA. 414 cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) AAAAAACACTGAAGTCAGTCA 0.388000 TSP Lung(8;0.080) 55 21 0 0 0.003954 0 0 MUC16 94025 broad.mit.edu 37 19 9061148 9061148 + Silent SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr19:9061148G>A uc002mkp.3 - 2 26502 c.26298C>T c.(26296-26298)tcC>tcT p.S8766S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 8768 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.I8765I(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 TGGTTTCCGTGGAGATTTCTG 0.507000 53 20 0 0 0.003330 0 0 CLIC5 53405 broad.mit.edu 37 6 45870870 45870870 + Silent SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr6:45870870G>A uc003oxv.3 - 5 1294 c.1188C>T c.(1186-1188)atC>atT p.I396I CLIC5_uc003oxu.3_Silent_p.I237I NM_001114086 NP_001107558 Q9NZA1 CLIC5_HUMAN Homo sapiens chloride intracellular channel 5 (CLIC5), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 396 GST C-terminal. female pregnancy Golgi apparatus|actin cytoskeleton|cell cortex|chloride channel complex|insoluble fraction|microtubule organizing center protein binding|voltage-gated chloride channel activity endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 13 AGGCCAACTCGATCTCACTGT 0.567000 34 14 0 0 0.002450 0 0 ACAN 176 broad.mit.edu 37 15 89402228 89402228 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr15:89402228G>A uc010upo.1 + 11 6786 c.6412G>A c.(6412-6414)Gaa>Aaa p.E2138K ACAN_uc010upp.1_Missense_Mutation_p.E2138K|ACAN_uc002bna.2_Non-coding_Transcript NM_013227 NP_037359 E7EX88 E7EX88_HUMAN Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA. 2138 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) TGCATTCCACGAAGCTAACCT 0.577000 52 20 0 0 0.010504 0 0 ZNF716 441234 broad.mit.edu 37 7 57510015 57510015 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr7:57510015C>T uc011kdi.1 + 0 133 c.21C>T c.(19-21)ccC>ccT p.P7P NM_001159279 NP_001152751 Homo sapiens zinc finger protein 716 (ZNF716), mRNA. breast(1)|kidney(1)|lung(20)|ovary(2) 24 GACCGGGACCCCCTGGAAGCC 0.567000 24 19 0 0 0.003954 0 0 FGF9 2254 broad.mit.edu 37 13 22275499 22275499 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr13:22275499C>T uc001uog.2 + 2 1389 c.552C>T c.(550-552)ttC>ttT p.F184F NM_002010 NP_002001 P31371 FGF9_HUMAN Homo sapiens fibroblast growth factor 9 (glia-activating factor) (FGF9), mRNA. 184 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division extracellular space growth factor activity|heparin binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2) 9 all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106) all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163) ACCAGAAATTCACACATTTTT 0.433000 23 13 0 0 0.013537 0 0 ZNF251 90987 broad.mit.edu 37 8 145947274 145947274 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr8:145947274C>T uc003zdv.4 - 4 2027 c.1771G>A c.(1771-1773)Gaa>Aaa p.E591K NM_138367 NP_612376 Q9BRH9 ZN251_HUMAN Homo sapiens zinc finger protein 251 (ZNF251), mRNA. 591 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1) 17 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.198) TAGGGCTTTTCCCCAGCATGC 0.433000 44 32 0 0 0.012213 0 0 SEC14L5 9717 broad.mit.edu 37 16 5061172 5061172 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr16:5061172G>A uc002cye.2 + 14 2057 c.1877G>A c.(1876-1878)tGc>tAc p.C626Y NM_014692 NP_055507 O43304 S14L5_HUMAN Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA. 626 GOLD. integral to membrane|intracellular transporter activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1) 29 AGCGTGGCCTGCAGCCTCCCG 0.647000 5 5 0 0 0.001168 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971028 21971028 + Nonsense_Mutation SNP C T T rs121913389 TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr9:21971028C>T uc003zpk.3 - 1 636 c.330G>A c.(328-330)tgG>tgA p.W110* MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Nonsense_Mutation_p.W110*|CDKN2A_uc003zpl.3_Missense_Mutation_p.G125R NM_000077 NP_000068 P42771 CD2A1_HUMAN Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA. 110 G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence cytosol|nucleus NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding p.0?(1315)|p.W110*(78)|p.?(44)|p.A109V(2)|p.H83fs*2(2)|p.G166R(2)|p.W110C(2)|p.W110fs*9(1)|p.D105fs*8(1)|p.A109T(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.A109A(1)|p.W110fs*36(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) GCAGACGGCCCCAGGCATCGC 0.736000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 73 36 0 0 0.004289 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140166099 140166099 + Missense_Mutation SNP T G G TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr5:140166099T>G uc003lhb.2 + 0 224 c.224T>G c.(223-225)cTg>cGg p.L75R PCDHAC2_uc003lha.2_Missense_Mutation_p.L75R|PCDHAC2_uc003lgz.3_Missense_Mutation_p.L75R NM_018900 NP_061723 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA. 90 Cadherin 1. 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) AGGGACCTTCTGGAGGTAAAT 0.597000 61 20 0 0 0.012319 0 0 OR4D5 219875 broad.mit.edu 37 11 123811257 123811257 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr11:123811257C>T uc001pzk.1 + 0 934 c.934C>T c.(934-936)Ctg>Ttg p.L312L NM_001001965 NP_001001965 Q8NGN0 OR4D5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA. 312 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P311L(1) autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) TATTGGTCCCCTGGAGCACAG 0.498000 40 10 0 0 0.008291 0 0 KIAA1377 57562 broad.mit.edu 37 11 101833840 101833840 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr11:101833840G>A uc001pgm.3 + 5 2344 c.2074G>A c.(2074-2076)Gat>Aat p.D692N KIAA1377_uc001pgn.3_Missense_Mutation_p.D648N|KIAA1377_uc010run.2_Missense_Mutation_p.D493N|KIAA1377_uc009yxa.1_Missense_Mutation_p.D493N NM_020802 NP_065853 Q9P2H0 K1377_HUMAN Homo sapiens KIAA1377 (KIAA1377), mRNA. 692 protein binding breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 53 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) GTCCAGGGAGGATTCTATCTC 0.388000 60 19 0 0 0.008871 0 0 CPSF6 11052 broad.mit.edu 37 12 69652823 69652823 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr12:69652823C>T uc001sut.4 + 5 1258 c.1148C>T c.(1147-1149)cCa>cTa p.P383L CPSF6_uc001suu.4_Missense_Mutation_p.P420L|CPSF6_uc010stk.2_Missense_Mutation_p.P14L NM_007007 NP_008938 Q16630 CPSF6_HUMAN Homo sapiens cleavage and polyadenylation specific factor 6, 68kDa (CPSF6), mRNA. 383 Pro-rich. mRNA polyadenylation|protein tetramerization mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding endometrium(1)|large_intestine(7)|lung(8) 16 all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187) Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241) CCAACAGATCCATATGGGCGA 0.512000 46 19 0 0 0.008871 0 0 NYNRIN 57523 broad.mit.edu 37 14 24884614 24884614 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr14:24884614C>T uc001wpf.4 + 8 3977 c.3659C>T c.(3658-3660)tCc>tTc p.S1220F NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA. 1220 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 AAGCATTTTTCCCGCTGCATT 0.637000 32 21 0 0 0.008871 0 0 C5orf42 65250 broad.mit.edu 37 5 37183400 37183400 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr5:37183400G>A uc011cpa.1 - 25 5114 c.4883C>T c.(4882-4884)tCa>tTa p.S1628L C5orf42_uc011coy.1_Missense_Mutation_p.S129L|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.S703L|C5orf42_uc011cpb.1_Missense_Mutation_p.S509L NM_023073 NP_075561 E9PH94 E9PH94_HUMAN Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA. 1628 breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) TGATTTTTCTGATTCATAGGA 0.348000 21 6 0 0 0.001168 0 0 NRP2 8828 broad.mit.edu 37 2 206608069 206608069 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:206608069C>T uc002vaw.3 + 8 2225 c.1434C>T c.(1432-1434)atC>atT p.I478I NRP2_uc002vat.3_Silent_p.I478I|NRP2_uc002vau.3_Silent_p.I478I|NRP2_uc002vav.3_Silent_p.I478I|NRP2_uc002vax.3_Silent_p.I478I|NRP2_uc002vay.3_Silent_p.I478I|NRP2_uc010fud.3_Silent_p.I478I NM_201266 NP_957718 O60462 NRP2_HUMAN Homo sapiens neuropilin 2 (NRP2), transcript variant 1, mRNA. 478 F5/8 type C 2. angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 52 TCCCTCGAATCCCTCAGGCCC 0.617000 55 19 0 0 0.006122 0 0 PCSK4 54760 broad.mit.edu 37 19 1487004 1487004 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr19:1487004C>T uc002ltb.1 - 7 978 c.916G>A c.(916-918)Gac>Aac p.D306N PCSK4_uc002lta.2_Missense_Mutation_p.D118N NM_017573 NP_060043 Q6UW60 PCSK4_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 4 (PCSK4), mRNA. 306 Catalytic (By similarity). proteolysis integral to membrane serine-type endopeptidase activity cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 15 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TTGCAGTTGTCGTAGTGCAGG 0.706000 40 15 0 0 0.003163 0 0 DISC1 27185 broad.mit.edu 37 1 231830097 231830098 + Missense_Mutation DNP CC TT TT TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr1:231830097_231830098CC>TT uc010pxh.2 + 1 646_647 c.593_594CC>TT c.(592-594)acc>aTT p.T198I DISC1_uc010pwe.2_Missense_Mutation_p.T153I|DISC1_uc010pwf.2_Missense_Mutation_p.T153I|DISC1_uc010pwj.1_Missense_Mutation_p.T187I|DISC1_uc010pwk.1_Missense_Mutation_p.T187I|DISC1_uc010pwg.1_Missense_Mutation_p.T187I|DISC1_uc010pwh.1_Missense_Mutation_p.T153I|DISC1_uc010pwi.1_Missense_Mutation_p.T153I|DISC1_uc010pwl.2_Non-coding_Transcript|DISC1_uc010pwp.2_Missense_Mutation_p.T198I|DISC1_uc010pwo.2_Missense_Mutation_p.T198I|DISC1_uc010pwq.2_Missense_Mutation_p.T198I|DISC1_uc010pwr.1_Missense_Mutation_p.T198I|DISC1_uc010pws.1_Missense_Mutation_p.T198I|DISC1_uc010pwt.1_Missense_Mutation_p.T198I|DISC1_uc010pwu.1_Intron|DISC1_uc010pwv.2_Non-coding_Transcript|DISC1_uc010pwx.2_Non-coding_Transcript|DISC1_uc010pww.2_Missense_Mutation_p.T198I|DISC1_uc001huy.3_Missense_Mutation_p.T198I|DISC1_uc010pwy.2_Non-coding_Transcript|DISC1_uc010pwz.2_Non-coding_Transcript|DISC1_uc010pxa.2_Non-coding_Transcript|DISC1_uc010pxb.1_Missense_Mutation_p.T198I|DISC1_uc010pxc.1_Missense_Mutation_p.T198I|DISC1_uc010pxe.2_Missense_Mutation_p.T198I|DISC1_uc010pxf.2_Missense_Mutation_p.T198I|DISC1_uc010pxg.2_Missense_Mutation_p.T198I|DISC1_uc010pxd.2_5'UTR|DISC1_uc009xfr.3_Missense_Mutation_p.T153I|DISC1_uc010pxn.1_5'UTR|DISC1_uc010pxk.1_Non-coding_Transcript|DISC1_uc010pxi.1_Non-coding_Transcript|DISC1_uc010pxj.1_5'UTR|DISC1_uc010pxl.1_Non-coding_Transcript|DISC1_uc010pxm.2_Missense_Mutation_p.T198I|DISC1_uc001huz.3_Missense_Mutation_p.T198I|DISC1_uc001hva.3_Missense_Mutation_p.T198I|DISC1_uc010pwm.2_Missense_Mutation_p.T198I|DISC1_uc001hvc.3_Missense_Mutation_p.T198I|DISC1_uc010pwn.1_Missense_Mutation_p.T198I|DISC1_uc021pkn.1_Missense_Mutation_p.T198I|DISC1_uc001hux.1_Missense_Mutation_p.T198I NM_001164537 NP_001158009 Q9NRI5 DISC1_HUMAN Homo sapiens disrupted in schizophrenia 1 (DISC1), transcript variant a, mRNA. 198 Interaction with MAP1A. Wnt receptor signaling pathway|microtubule cytoskeleton organization|neuron migration|positive regulation of Wnt receptor signaling pathway|positive regulation of neuroblast proliferation centrosome|microtubule protein binding breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 15 all_cancers(173;0.0208)|Prostate(94;0.0975) GTCCCCCCAACCCCTCCTGGCT 0.609000 38 13 0 0 0.004672 0 0 PTEN 5728 broad.mit.edu 37 10 89711876 89711876 + Splice_Site SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr10:89711876G>A uc001kfb.3 + 6 1525 c.493_splice c.e6-1 p.G165_splice PTEN_uc021pvw.1_Splice_Site NM_000314 NP_000305 P60484 PTEN_HUMAN Homo sapiens phosphatase and tensin homolog (PTEN), mRNA. 165 Phosphatase tensin-type. G -> E (in CD).|G -> R (in glioblastoma; severely reduced protein phosphatase activity; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|G -> V (in CD). T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development PML body|cytosol|internal side of plasma membrane PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.G165E(6)|p.R55fs*1(5)|p.?(4)|p.G165fs*9(3)|p.Y27fs*1(2)|p.G165_*404del(1)|p.K163_V166>NKGE(1)|p.G165V(1)|p.G165del(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) GTCCACCAGGGAGTAACTATT 0.368000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 34 17 0 0 0.006122 0 0 LMTK2 22853 broad.mit.edu 37 7 97822385 97822385 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr7:97822385C>T uc003upd.2 + 10 2901 c.2608C>T c.(2608-2610)Ctc>Ttc p.L870F NM_014916 NP_055731 Q8IWU2 LMTK2_HUMAN Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA. 870 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) GGTTGAAATTCTCTCAACTGA 0.547000 29 14 0 0 0.001855 0 0 CMYA5 202333 broad.mit.edu 37 5 79030721 79030721 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr5:79030721G>A uc003kgc.3 + 1 6205 c.6133G>A c.(6133-6135)Gaa>Aaa p.E2045K NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA. 2045 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) ACTACCTCCTGAAAGATTCTT 0.438000 39 19 0 0 0.014323 0 0 PPM1G 5496 broad.mit.edu 37 2 27610020 27610020 + Silent SNP A G G TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:27610020A>G uc002rkl.3 - 1 333 c.126T>C c.(124-126)gcT>gcC p.A42A PPM1G_uc002rkm.3_5'UTR NM_177983 NP_817092 O15355 PPM1G_HUMAN Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1G (PPM1G), mRNA. 42 cell cycle arrest|protein dephosphorylation cytoplasm|nucleus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 19 Acute lymphoblastic leukemia(172;0.155) TACAGTTGTGAGCATCCTAGG 0.438000 20 3 0 0 0.009096 0 0 DSC1 1823 broad.mit.edu 37 18 28725676 28725676 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr18:28725676C>T uc002kwn.3 - 6 1099 c.837G>A c.(835-837)ctG>ctA p.L279L DSC1_uc002kwm.3_Silent_p.L279L NM_024421 NP_077739 Q08554 DSC1_HUMAN Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA. 279 Cadherin 2. homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) TTTTATATTTCAGACGAGTAT 0.408000 49 16 0 0 0.004990 0 0 COPS5 10987 broad.mit.edu 37 8 67974244 67974244 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr8:67974244G>A uc003xxf.3 - 1 247 c.74C>T c.(73-75)cCg>cTg p.P25L CSPP1_uc003xxg.1_5'Flank|CSPP1_uc003xxh.1_5'Flank|CSPP1_uc003xxj.3_5'Flank|CSPP1_uc003xxi.3_5'Flank|COPS5_uc003xxd.3_5'UTR|COPS5_uc003xxe.3_5'UTR|COPS5_uc010lyv.1_5'UTR Q92905 CSN5_HUMAN Homo sapiens COP9 constitutive photomorphogenic homolog subunit 5 (Arabidopsis) (COPS5), mRNA. 0 cullin deneddylation|transcription from RNA polymerase II promoter eukaryotic translation initiation factor 3 complex|signalosome metal ion binding|metallopeptidase activity|protein binding|transcription coactivator activity|translation initiation factor activity endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(3) 14 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153) CCGAGGAAGCGGAGAAGTTGT 0.557000 33 27 0 0 0.007291 0 0 IQGAP3 128239 broad.mit.edu 37 1 156501015 156501015 + Silent SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr1:156501015G>A uc001fpf.3 - 32 4203 c.4128C>T c.(4126-4128)atC>atT p.I1376I NM_178229 NP_839943 Q86VI3 IQGA3_HUMAN Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA. 1376 small GTPase mediated signal transduction intracellular Ras GTPase activator activity|calmodulin binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3) 75 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GGAACTGTATGATATCGGCCA 0.587000 62 13 0 0 0.002450 0 0 TBCE 6905 broad.mit.edu 37 1 235543451 235543451 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr1:235543451C>T uc010pxr.1 + 1 210 c.87C>T c.(85-87)gtC>gtT p.V29V TBCE_uc010pxq.1_Non-coding_Transcript|TBCE_uc001hwz.1_Silent_p.V29V|TBCE_uc001hxa.1_Silent_p.V29V|TBCE_uc001hxb.1_5'UTR NM_003193 NP_003184 Q15813 TBCE_HUMAN Homo sapiens tubulin folding cofactor E (TBCE), transcript variant 2, mRNA. 29 CAP-Gly. 'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway cytoplasm|microtubule|nucleus|plasma membrane chaperone binding NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 14 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238) OV - Ovarian serous cystadenocarcinoma(106;2.56e-05) CTGGTGTTGTCCCTCCCGTGG 0.438000 15 8 0 0 0.006214 0 0 MST1P9 11223 broad.mit.edu 37 1 17085522 17085522 + Missense_Mutation SNP G T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr1:17085522G>T uc010ock.2 - 9 1169 c.1169C>A c.(1168-1170)aCc>aAc p.T390N CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'UTR Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA. breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1) 34 CCGCCCCAGGGTTAGGGCCCT 0.637000 45 5 0.00116845 0.00313182 0.001168 1 0 TAS1R2 80834 broad.mit.edu 37 1 19180943 19180943 + Missense_Mutation SNP A C C TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr1:19180943A>C uc001bba.1 - 2 1022 c.1021T>G c.(1021-1023)Tgg>Ggg p.W341G NM_152232 NP_689418 Q8TE23 TS1R2_HUMAN Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA. 341 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) TGTGGGCCCCACTCGCGGAAC 0.647000 28 11 0 0 0.008291 0 0 ITGB8 3696 broad.mit.edu 37 7 20421418 20421418 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr7:20421418C>T uc003suu.3 + 5 1575 c.870C>T c.(868-870)ctC>ctT p.L290L ITGB8_uc011jyh.2_Silent_p.L155L|ITGB8_uc003sut.3_Silent_p.L290L NM_002214 NP_002205 P26012 ITB8_HUMAN Homo sapiens integrin, beta 8 (ITGB8), mRNA. 290 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity p.L290L(3) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1) 37 CGTCTCATCTCGCTCTTGATA 0.418000 38 27 0 0 0.005443 0 0 HIST1H3C 8352 broad.mit.edu 37 6 26045867 26045867 + Missense_Mutation SNP C A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr6:26045867C>A uc003nfv.3 + 0 229 c.229C>A c.(229-231)Cag>Aag p.Q77K HIST1H2BB_uc003nfu.3_5'Flank NM_003531 NP_066298 P68431 H31_HUMAN Homo sapiens histone cluster 1, H3c (HIST1H3C), mRNA. 77 S phase|blood coagulation|nucleosome assembly|regulation of gene silencing nucleoplasm|nucleosome DNA binding|protein binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1) 8 AGAAATCGCCCAGGACTTCAA 0.617000 38 9 0.000673444 0.00181997 0.008291 1 0 COL4A3 1285 broad.mit.edu 37 2 228118856 228118856 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:228118856G>A uc002vom.2 + 13 956 c.794G>A c.(793-795)gGa>gAa p.G265E BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron NM_000091 NP_000082 Q01955 CO4A3_HUMAN Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA. 265 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) GGAGACAAGGGAGCAATGGGC 0.423000 61 17 0 0 0.010504 0 0 DISP1 84976 broad.mit.edu 37 1 223116276 223116276 + Silent SNP C A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr1:223116276C>A uc001hnu.2 + 3 437 c.111C>A c.(109-111)gcC>gcA p.A37A NM_032890 NP_116279 Q96F81 DISP1_HUMAN Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA. 37 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) ACCATGCAGCCCAGCAGCTCA 0.498000 437 20 8.34094e-07 2.2729e-06 0.008871 1 0 CADM3 57863 broad.mit.edu 37 1 159163260 159163260 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr1:159163260G>A uc001ftl.2 + 3 609 c.430G>A c.(430-432)Gaa>Aaa p.E144K CADM3_uc009wsx.1_Missense_Mutation_p.E178K|CADM3_uc009wsy.1_Missense_Mutation_p.E144K|CADM3_uc001ftk.2_Missense_Mutation_p.E178K NM_001127173 NP_001120645 Q8N126 CADM3_HUMAN Homo sapiens cell adhesion molecule 3 (CADM3), transcript variant 2, mRNA. 144 Ig-like C2-type 1. adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 all_hematologic(112;0.0429) TTCATTACGGGAAAAAGACAC 0.537000 48 19 0 0 0.010504 0 0 MACF1 23499 broad.mit.edu 37 1 39549971 39549971 + Missense_Mutation SNP G A A rs78058438 TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr1:39549971G>A uc010oir.2 + 1 260 c.68G>A c.(67-69)gGa>gAa p.G23E MACF1_uc021ols.1_Silent_p.R27R|MACF1_uc001cdc.2_Silent_p.R27R|MACF1_uc021olt.1_Silent_p.R27R Q9UPN3 MACF1_HUMAN Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA. 0 Actin-binding. Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing Golgi apparatus|microtubule|ruffle membrane ATPase activity|actin filament binding|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GATCTTACAGGAGCGAGCGGT 0.617000 23 6 0 0 0.003080 0 0 PTPRH 5794 broad.mit.edu 37 19 55716753 55716753 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr19:55716753G>A uc002qjq.3 - 3 633 c.560C>T c.(559-561)tCc>tTc p.S187F PTPRH_uc010esv.3_Intron|PTPRH_uc002qjs.2_Missense_Mutation_p.S194F NM_002842 NP_002833 Q9HD43 PTPRH_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA. 187 Fibronectin type-III 2. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 67 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) CACCCACATGGAAAACGCATA 0.507000 81 26 0 0 0.004656 0 0 MGC70870 403340 broad.mit.edu 37 GL000205.1 117657 117657 + RNA SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chrGL000205.1:117657G>A uc002kgk.4 + 0 c.1035G>A Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA. GGGAAGGCACGCGAGTTCAGA 0.622000 4 3 0 0 0.000602 0 0 RGS5 8490 broad.mit.edu 37 1 163117255 163117255 + Silent SNP C T T rs148613695 TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr1:163117255C>T uc001gcn.3 - 4 761 c.423G>A c.(421-423)aaG>aaA p.K141K RGS5_uc021pdu.1_Silent_p.K33K|RGS5_uc021pdt.1_Silent_p.K145K|RGS5_uc009wvb.3_Silent_p.K33K NM_003617 NP_003608 O15539 RGS5_HUMAN Homo sapiens regulator of G-protein signaling 5 (RGS5), transcript variant 1, mRNA. 141 RGS. negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|plasma membrane GTPase activator activity|signal transducer activity autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 LUSC - Lung squamous cell carcinoma(543;0.187) CCACCAGGTTCTTCATTGTGA 0.473000 41 10 0 0 0.008291 0 0 KIAA1199 57214 broad.mit.edu 37 15 81212554 81212554 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr15:81212554C>T uc002bfw.1 + 13 2177 c.1917C>T c.(1915-1917)ctC>ctT p.L639L KIAA1199_uc010unn.1_Silent_p.L639L NM_018689 NP_061159 Q8WUJ3 K1199_HUMAN Homo sapiens KIAA1199 (KIAA1199), mRNA. 639 breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 GAACCCTCCTCCCCTCGGACC 0.557000 39 8 0 0 0.006214 0 0 CIT 11113 broad.mit.edu 37 12 120135790 120135790 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr12:120135790G>A uc001txj.2 - 44 5749 c.5693C>T c.(5692-5694)tCc>tTc p.S1898F CIT_uc001txh.2_Missense_Mutation_p.S1375F|CIT_uc001txi.2_Missense_Mutation_p.S1856F NM_001206999 NP_001193928 O14578 CTRO_HUMAN Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA. 1856 intracellular signal transduction ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) CCCTGCTGAGGAGCGTGCCTG 0.527000 109 41 0 0 0.013114 0 0 PRRT3 285368 broad.mit.edu 37 3 9991656 9991656 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr3:9991656C>T uc003bul.2 - 1 274 c.144G>A c.(142-144)aaG>aaA p.K48K CIDEC_uc003bto.3_Intron|PRRT3_uc003buk.2_Non-coding_Transcript|PRRT3_uc003bum.3_Silent_p.K48K NM_207351 NP_997234 Q5FWE3 PRRT3_HUMAN Homo sapiens proline-rich transmembrane protein 3 (PRRT3), mRNA. 48 integral to membrane NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2) 13 CCACAGAGCCCTTGGGGTGGG 0.632000 36 11 0 0 0.010729 0 0 TTN 7273 broad.mit.edu 37 2 179584174 179584174 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:179584174C>T uc021vsy.1 - 79 20436 c.20211G>A c.(20209-20211)cgG>cgA p.R6737R TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.R3398R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 7664 Ig-like 49. 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) GAGGCACAATCCGATCTATGT 0.473000 59 17 0 0 0.006122 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T rs121913377 TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c 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 26 25 0 0 0.004656 0 0 NAV3 89795 broad.mit.edu 37 12 78401099 78401099 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr12:78401099C>T uc001syp.3 + 7 1954 c.1781C>T c.(1780-1782)tCt>tTt p.S594F NAV3_uc001syo.3_Missense_Mutation_p.S594F NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN Homo sapiens neuron navigator 3 (NAV3), mRNA. 594 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 GCTTCTCCTTCTGGTTCCTGT 0.522000 HNSCC(70;0.22) 77 30 0 0 0.008361 0 0 MYOCD 93649 broad.mit.edu 37 17 12639507 12639507 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr17:12639507G>A uc002gno.2 + 5 744 c.445G>A c.(445-447)Gat>Aat p.D149N MYOCD_uc002gnn.2_Missense_Mutation_p.D149N|MYOCD_uc002gnp.1_Missense_Mutation_p.D53N NM_001146312 NP_001139784 Q8IZQ8 MYCD_HUMAN Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA. 149 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) CAAATCCACGGATGCTTTTGC 0.532000 140 52 0 0 0.014410 0 0 OR4C13 283092 broad.mit.edu 37 11 49974628 49974628 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr11:49974628C>T uc010rhz.2 + 0 686 c.654C>T c.(652-654)gtC>gtT p.V218V NM_001001955 NP_001001955 Q8NGP0 OR4CD_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA. 218 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 43 CCTGCGTGGTCATACTGTACT 0.488000 61 14 0 0 0.003163 0 0 OR6C74 254783 broad.mit.edu 37 12 55641155 55641155 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr12:55641155C>T uc010spg.2 + 0 84 c.84C>T c.(82-84)ctC>ctT p.L28L NM_001005490 NP_001005490 A6NCV1 O6C74_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 74 (OR6C74), mRNA. 28 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1) 12 TTTTTCTTCTCCTTTTTTTCA 0.373000 58 15 0 0 0.004007 0 0 PTPRH 5794 broad.mit.edu 37 19 55715188 55715188 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr19:55715188C>T uc002qjq.3 - 4 921 c.848G>A c.(847-849)gGa>gAa p.G283E PTPRH_uc010esv.3_Intron|PTPRH_uc002qjs.2_Missense_Mutation_p.G290E NM_002842 NP_002833 Q9HD43 PTPRH_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA. 283 Fibronectin type-III 3. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 67 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) GCTATTTACTCCGTCTTTCTC 0.488000 70 21 0 0 0.014323 0 0 KCNK2 3776 broad.mit.edu 37 1 215298016 215298016 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr1:215298016G>A uc001hkq.3 + 2 567 c.398G>A c.(397-399)gGa>gAa p.G133E KCNK2_uc001hko.3_Missense_Mutation_p.G129E|KCNK2_uc009xdm.3_Non-coding_Transcript|KCNK2_uc001hkp.3_Intron|KCNK2_uc010pua.1_Intron|KCNK2_uc001hkr.4_Missense_Mutation_p.G118E NM_001017425 NP_001017425 O95069 KCNK2_HUMAN Homo sapiens potassium channel, subfamily K, member 2 (KCNK2), transcript variant 3, mRNA. 133 outward rectifier potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) ATACCGTTAGGAAACACCTCC 0.383000 70 28 0 0 0.005443 0 0 KCNC4 3749 broad.mit.edu 37 1 110765869 110765869 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr1:110765869C>T uc009wfr.3 + 1 1748 c.962C>T c.(961-963)gCc>gTc p.A321V KCNC4_uc001dzf.3_Missense_Mutation_p.A321V|KCNC4_uc001dzh.3_Missense_Mutation_p.A321V|KCNC4_uc001dzi.3_Non-coding_Transcript|KCNC4_uc001dzg.3_Missense_Mutation_p.A321V NM_001039574 NP_001034663 Q03721 KCNC4_HUMAN Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 4 (KCNC4), transcript variant 3, mRNA. 321 synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2) 32 all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135) GACTTTGTGGCCATCCTGCCC 0.627000 33 12 0 0 0.010729 0 0 LRP1B 53353 broad.mit.edu 37 2 141739753 141739753 + Missense_Mutation SNP G T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:141739753G>T uc002tvj.1 - 17 3835 c.2863C>A c.(2863-2865)Cag>Aag p.Q955K LRP1B_uc010fnl.1_Missense_Mutation_p.Q137K NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 955 LDL-receptor class A 5. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TCATCTGTCTGGTCACCACAG 0.468000 TSP Lung(27;0.18) 42 8 0.000157383 0.0004265 0.003080 1 0 TMEM92 162461 broad.mit.edu 37 17 48356327 48356327 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr17:48356327C>T uc002iqn.2 + 4 446 c.336C>T c.(334-336)tcC>tcT p.S112S TMEM92_uc021tzz.1_Silent_p.S112S NM_001168215 NP_694961 Q6UXU6 TMM92_HUMAN Homo sapiens transmembrane protein 92 (TMEM92), transcript variant 2, mRNA. 112 Pro-rich. integral to membrane NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1) 7 TCAGAGTATCCCTTTCTGCGC 0.652000 29 5 0 0 0.000602 0 0 TSHZ1 10194 broad.mit.edu 37 18 72998240 72998241 + Missense_Mutation DNP CC TT TT TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr18:72998240_72998241CC>TT uc002lly.3 + 1 1306_1307 c.743_744CC>TT c.(742-744)tcc>tTT p.S248F TSHZ1_uc021uln.1_Missense_Mutation_p.S248F NM_005786 NP_005777 Q6ZSZ6 TSH1_HUMAN Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA. 293 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R247>?(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2) 42 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) AGGAAGCGCTCCCTGATGGAGA 0.569000 26 19 0 0 0.004672 0 0 KRTAP5-9 3846 broad.mit.edu 37 11 71260045 71260045 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr11:71260045C>T uc001oqs.1 + 0 580 c.342C>T c.(340-342)ccC>ccT p.P114P NM_005553 NP_005544 P26371 KRA59_HUMAN Homo sapiens keratin associated protein 5-9 (KRTAP5-9), mRNA. 114 8 X 4 AA repeats of C-C-X-P. epidermis development keratin filament kidney(1)|large_intestine(1)|lung(6)|prostate(3) 11 GCTGTAAGCCCTGTTGCTCCT 0.617000 84 27 0 0 0.004656 0 0 ADM2 79924 broad.mit.edu 37 22 50921076 50921076 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr22:50921076G>A uc003blj.3 + 1 483 c.191G>A c.(190-192)cGg>cAg p.R64Q ADM2_uc011ary.2_Missense_Mutation_p.R64Q NM_024866 NP_079142 Q7Z4H4 ADM2_HUMAN Homo sapiens adrenomedullin 2 (ADM2), transcript variant 1, mRNA. 64 positive regulation of angiogenesis extracellular region hormone activity breast(1)|kidney(1) 2 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) AAGCTTCACCGGGCCCTCCAG 0.706000 5 3 0 0 0.004672 0 0 FAT3 120114 broad.mit.edu 37 11 92087984 92087984 + Silent SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr11:92087984G>A uc001pdj.4 + 0 2723 c.2706G>A c.(2704-2706)ttG>ttA p.L902L NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 902 Cadherin 8. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ATTATTCTTTGAAAATAGAAG 0.438000 TCGA Ovarian(4;0.039) 326 114 0 0 0.014410 0 0 BC063132 0 broad.mit.edu 37 GL000241.1 22761 22761 + RNA SNP T A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chrGL000241.1:22761T>A uc011mgv.2 - 5 c.659A>T Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors. CATTGTTCTCTTGGTCCAATT 0.333000 51 4 0 0 0.009096 0 0 RALGDS 5900 broad.mit.edu 37 9 135985749 135985749 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr9:135985749G>A uc004cco.3 - 2 442 c.422C>T c.(421-423)aCc>aTc p.T141I RALGDS_uc004ccp.3_Non-coding_Transcript|RALGDS_uc004ccq.3_Missense_Mutation_p.T141I|RALGDS_uc004ccr.3_Missense_Mutation_p.T140I|RALGDS_uc011mcv.2_Missense_Mutation_p.T124I|RALGDS_uc004ccs.3_Missense_Mutation_p.T86I|RALGDS_uc011mcw.2_Missense_Mutation_p.T212I|RALGDS_uc004ccv.1_5'Flank|RALGDS_uc004ccu.1_5'Flank NM_006266 NP_006257 Q12967 GNDS_HUMAN Homo sapiens ral guanine nucleotide dissociation stimulator (RALGDS), transcript variant 1, mRNA. 141 N-terminal Ras-GEF. Ras protein signal transduction|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) CAGGAAGATGGTGACGTAGGA 0.587000 T CIITA """PMBL, Hodgkin Lymphona, """ 28 13 0 0 0.003163 0 0 OGDH 4967 broad.mit.edu 37 7 44746846 44746846 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr7:44746846C>T uc003tln.3 + 20 2814 c.2655C>T c.(2653-2655)atC>atT p.I885I OGDH_uc011kbx.2_Silent_p.I881I|OGDH_uc011kby.2_Silent_p.I735I|OGDH_uc003tlp.3_Silent_p.I896I|OGDH_uc011kbz.2_Silent_p.I680I NM_002541 NP_002532 Q02218 ODO1_HUMAN Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 885 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) AGCGGGTGATCCCAGAAGATG 0.562000 39 16 0 0 0.007413 0 0 CPN2 1370 broad.mit.edu 37 3 194062482 194062482 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr3:194062482G>A uc003fts.3 - 1 1040 c.950C>T c.(949-951)tCc>tTc p.S317F CPN2_uc021xix.1_Missense_Mutation_p.S317F NM_001080513 NP_001073982 P22792 CPN2_HUMAN Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA. 317 protein stabilization extracellular region enzyme regulator activity breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1) 27 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) GAGCATGAGGGAACGCAGGTT 0.572000 26 11 0 0 0.010729 0 0 IGFN1 91156 broad.mit.edu 37 1 201195139 201195139 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr1:201195139C>T uc001gwc.3 + 21 10804 c.10674C>T c.(10672-10674)ctC>ctT p.L3558L IGFN1_uc001gwb.3_Non-coding_Transcript NM_001164586 NP_001158058 Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA. autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 GCTTCACCCTCCTGGGCATCC 0.662000 34 10 0 0 0.008291 0 0 PPP6R2 9701 broad.mit.edu 37 22 50869685 50869686 + Missense_Mutation DNP CC TT TT TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr22:50869685_50869686CC>TT uc003blb.2 + 11 1631_1632 c.1209_1210CC>TT c.(1207-1212)gcccgt>gcTTgt p.R404C PPP6R2_uc003blc.3_Missense_Mutation_p.R404C|PPP6R2_uc003bky.2_Missense_Mutation_p.R404C|PPP6R2_uc003bla.2_Missense_Mutation_p.R405C|PPP6R2_uc003bkz.2_Missense_Mutation_p.R404C|PPP6R2_uc003bld.2_5'UTR NM_001242898 NP_001229827 O75170 PP6R2_HUMAN Homo sapiens protein phosphatase 6, regulatory subunit 2 (PPP6R2), transcript variant 1, mRNA. 404 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 22 CCCACGCTGCCCGTGAGGAGAG 0.574000 50 27 0 0 0.004672 0 0 LAMA4 3910 broad.mit.edu 37 6 112437103 112437103 + Missense_Mutation SNP T C C TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr6:112437103T>C uc003pvu.2 - 35 5384 c.5075A>G c.(5074-5076)aAt>aGt p.N1692S LAMA4_uc003pvv.2_Missense_Mutation_p.N1685S|LAMA4_uc003pvt.2_Missense_Mutation_p.N1685S NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA. 1692 Laminin G-like 5. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) GTACTCCCCATTGACACTGTG 0.418000 58 27 0 0 0.006320 0 0 KCNQ5 56479 broad.mit.edu 37 6 73904753 73904753 + Silent SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr6:73904753G>A uc011dyh.2 + 14 2819 c.2472G>A c.(2470-2472)agG>agA p.R824R KCNQ5_uc011dyi.2_Silent_p.R815R|KCNQ5_uc010kat.3_Silent_p.R796R|KCNQ5_uc003pgk.3_Silent_p.R805R|KCNQ5_uc011dyj.2_Silent_p.R695R|KCNQ5_uc011dyk.2_Silent_p.R555R NM_001160133 NP_001153605 Q9NR82 KCNQ5_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA. 805 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) GTTCTATGAGGAAAAGCTTTG 0.483000 51 13 0 0 0.002450 0 0 ZBTB7A 51341 broad.mit.edu 37 19 4048123 4048123 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr19:4048123G>A uc002lzh.3 - 2 1457 c.1382C>T c.(1381-1383)aCg>aTg p.T461M ZBTB7A_uc002lzi.3_Missense_Mutation_p.T461M NM_015898 NP_056982 O95365 ZBT7A_HUMAN Homo sapiens zinc finger and BTB domain containing 7A (ZBTB7A), mRNA. 461 cell differentiation|multicellular organismal development|transcription, DNA-dependent nucleus DNA binding|histone acetyltransferase binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 14 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18) GCGCAGGCCCGTGTGCACGCG 0.647000 45 23 0 0 0.012319 0 0 HECW1 23072 broad.mit.edu 37 7 43594324 43594324 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr7:43594324C>T uc003tid.1 + 28 5249 c.4644C>T c.(4642-4644)ctC>ctT p.L1548L HECW1_uc011kbi.1_Silent_p.L1514L NM_015052 NP_055867 Q76N89 HECW1_HUMAN Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA. 1548 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 TCGCAGCCCTCCGTGGGAGCA 0.572000 27 10 0 0 0.013537 0 0 VWA3B 200403 broad.mit.edu 37 2 98810890 98810890 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:98810890G>A uc002syo.3 + 11 1936 c.1672G>A c.(1672-1674)Gaa>Aaa p.E558K VWA3B_uc010yvh.2_Missense_Mutation_p.E408K|VWA3B_uc002syj.3_Non-coding_Transcript|VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_Missense_Mutation_p.E77K|VWA3B_uc002sym.3_Missense_Mutation_p.E558K|VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Missense_Mutation_p.E215K|VWA3B_uc002syp.1_5'UTR NM_144992 NP_659429 Q502W6 VWA3B_HUMAN Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA. 558 VWFA. p.R557L(2) NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 TGCTTGGCGGGAACAACTTGC 0.383000 129 46 0 0 0.014410 0 0 TUBB3 10381 broad.mit.edu 37 16 90001825 90001825 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr16:90001825C>T uc002fpf.2 + 4 2415 c.2007C>T c.(2005-2007)tcC>tcT p.S669S TUBB3_uc010ciz.1_Silent_p.S250S|TUBB3_uc002fph.2_Silent_p.S322S|TUBB3_uc002fpj.1_Silent_p.S250S|TUBB3_uc002fpk.1_Silent_p.S176S NM_006086 NP_006077 Q13509 TBB3_HUMAN Homo sapiens tubulin, beta 3 class III (TUBB3), transcript variant 1, mRNA. 322 'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0273) GCCGCATGTCCATGAAGGAGG 0.617000 49 21 0 0 0.010504 0 0 RAB11FIP5 26056 broad.mit.edu 37 2 73316099 73316099 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:73316099G>A uc002siu.4 - 1 1017 c.776C>T c.(775-777)tCc>tTc p.S259F RAB11FIP5_uc002sit.4_Missense_Mutation_p.S181F NM_015470 NP_056285 Q9BXF6 RFIP5_HUMAN Homo sapiens RAB11 family interacting protein 5 (class I) (RAB11FIP5), mRNA. 259 protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 23 GCTGGCTGAGGACAGGGTGCT 0.637000 32 11 0 0 0.013537 0 0 KRT8 3856 broad.mit.edu 37 12 53291219 53291219 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr12:53291219G>A uc009zmk.1 - 8 1549 c.1529C>T c.(1528-1530)cCc>cTc p.P510L KRT8_uc001sbd.2_Missense_Mutation_p.P482L|KRT8_uc009zml.1_Missense_Mutation_p.P482L|KRT8_uc009zmm.1_Missense_Mutation_p.P482L NM_002273 NP_002264 P05787 K2C8_HUMAN Homo sapiens keratin 8 (KRT8), transcript variant 2, mRNA. 482 cytoskeleton organization|interspecies interaction between organisms cytoplasm|keratin filament|nuclear matrix|nucleoplasm protein binding|structural molecule activity endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 13 BRCA - Breast invasive adenocarcinoma(357;0.108) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGTTCACTTGGGCAGGACGTC 0.637000 49 15 0 0 0.004990 0 0 ZNF208 7757 broad.mit.edu 37 19 22155388 22155388 + Missense_Mutation SNP C A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr19:22155388C>A uc021urr.1 - 3 2597 c.2448G>T c.(2446-2448)aaG>aaT p.K816N ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 Homo sapiens zinc finger protein 208 (ZNF208), mRNA. breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) GGGTTGAGACCTTACTAAAGG 0.368000 41 6 0.00116845 0.00313182 0.001168 1 0 RAD51AP2 729475 broad.mit.edu 37 2 17698712 17698712 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:17698712G>A uc002rcl.1 - 0 995 c.971C>T c.(970-972)tCc>tTc p.S324F RAD51AP2_uc010exn.1_Missense_Mutation_p.S315F NM_001099218 NP_001092688 Q09MP3 R51A2_HUMAN Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA. 324 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) ATAACATTTGGAAAAAATGTT 0.343000 31 12 0 0 0.002450 0 0 SYNGAP1 8831 broad.mit.edu 37 6 33406690 33406690 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr6:33406690C>T uc011dri.2 + 9 1865 c.1670C>T c.(1669-1671)tCc>tTc p.S557F SYNGAP1_uc003oeo.1_Missense_Mutation_p.S542F|SYNGAP1_uc010juy.3_Missense_Mutation_p.S542F|SYNGAP1_uc010juz.3_Missense_Mutation_p.S269F NM_006772 NP_006763 Q96PV0 SYGP1_HUMAN Homo sapiens synaptic Ras GTPase activating protein 1 (SYNGAP1), mRNA. 557 Ras-GAP. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding p.S556S(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1) 43 GTGGTCAACTCCCACTGGTGA 0.562000 82 23 0 0 0.004656 0 0 B3GNTL1 146712 broad.mit.edu 37 17 80915071 80915071 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr17:80915071G>A uc002kgg.1 - 9 930 c.916C>T c.(916-918)Cac>Tac p.H306Y B3GNTL1_uc002kgf.1_Missense_Mutation_p.H195Y|B3GNTL1_uc002kge.1_Non-coding_Transcript NM_001009905 NP_001009905 Q67FW5 B3GNL_HUMAN Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 (B3GNTL1), mRNA. 306 transferase activity, transferring glycosyl groups endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 8 Breast(20;0.000443)|all_neural(118;0.0779) all_cancers(8;0.0396)|all_epithelial(8;0.0556) BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868) GAGTCCTCGTGGCAATAGAAG 0.632000 68 51 0 0 0.014410 0 0 TGM3 7053 broad.mit.edu 37 20 2297783 2297783 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr20:2297783C>T uc002wfx.4 + 5 836 c.739C>T c.(739-741)Cca>Tca p.P247S NM_003245 NP_003236 Q08188 TGM3_HUMAN Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA. 247 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 39 L-Glutamine(DB00130) TGGCCGGGACCCAAGGAGCTG 0.547000 66 11 0 0 0.008291 0 0 MECOM 2122 broad.mit.edu 37 3 169099072 169099072 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr3:169099072C>T uc011bpj.1 - 1 681 c.278G>A c.(277-279)gGa>gAa p.G93E MECOM_uc003ffl.2_Missense_Mutation_p.G65E|MECOM_uc011bpk.1_Intron|MECOM_uc010hwn.2_Missense_Mutation_p.G93E|MECOM_uc011bpl.1_Missense_Mutation_p.G93E NM_004991 NP_004982 Q13465 MDS1_HUMAN Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA. 93 sequence-specific DNA binding transcription factor activity p.K92E(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 GGTCCATATTCCTAGTCCTGC 0.483000 72 24 0 0 0.002780 0 0 TAF2 6873 broad.mit.edu 37 8 120774830 120774830 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr8:120774830G>A uc003you.3 - 18 2653 c.2383C>T c.(2383-2385)Cgt>Tgt p.R795C NM_003184 NP_003175 Q6P1X5 TAF2_HUMAN Homo sapiens TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa (TAF2), mRNA. 795 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 49 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) ATTTCTGCACGATAATAGTTA 0.318000 19 17 0 0 0.007413 0 0 TRIM62 55223 broad.mit.edu 37 1 33625297 33625297 + Silent SNP C G G TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr1:33625297C>G uc001bxb.3 - 2 1391 c.753G>C c.(751-753)ctG>ctC p.L251L NM_018207 NP_060677 Q9BVG3 TRI62_HUMAN Homo sapiens tripartite motif containing 62 (TRIM62), mRNA. 251 intracellular zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0393) ACCGCTCGGACAGTGAGGCCA 0.682000 21 6 0 0 0.001168 0 0 NUP188 23511 broad.mit.edu 37 9 131735486 131735486 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr9:131735486C>T uc004bws.1 + 11 1183 c.1161C>T c.(1159-1161)ttC>ttT p.F387F NM_015354 NP_056169 Q5SRE5 NU188_HUMAN Homo sapiens nucleoporin 188kDa (NUP188), mRNA. 387 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding p.S386S(1) breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 60 TGCTCTCTTTCGTTCTGACCT 0.502000 36 9 0 0 0.006214 0 0 MYH8 4626 broad.mit.edu 37 17 10299903 10299903 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr17:10299903C>T uc002gmm.2 - 31 4590 c.4495G>A c.(4495-4497)Gaa>Aaa p.E1499K AK097500_uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA. 1499 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 CTTAGCGTTTCGAGTTGATCC 0.473000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 23 8 0 0 0.003080 0 0 GPM6A 2823 broad.mit.edu 37 4 176594872 176594872 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr4:176594872C>T uc003iuf.3 - 2 1150 c.346G>A c.(346-348)Gat>Aat p.D116N GPM6A_uc011ckj.2_Missense_Mutation_p.D109N|GPM6A_uc003iug.3_Missense_Mutation_p.D116N|GPM6A_uc003iuh.3_Missense_Mutation_p.D105N NM_201591 NP_963885 P51674 GPM6A_HUMAN Homo sapiens glycoprotein M6A (GPM6A), transcript variant 2, mRNA. 116 cell surface|integral to membrane NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388) ATTTTGAAATCCCCATAGAGA 0.438000 20 6 0 0 0.001984 0 0 KIAA2022 340533 broad.mit.edu 37 X 73962840 73962840 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chrX:73962840C>T uc004eby.3 - 2 2169 c.1552G>A c.(1552-1554)Gaa>Aaa p.E518K NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN Homo sapiens KIAA2022 (KIAA2022), mRNA. 518 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 TCATCATCTTCCTCTTTGGAA 0.378000 12 7 0 0 0.006214 0 0 PLXNB2 23654 broad.mit.edu 37 22 50722087 50722087 + Silent SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr22:50722087G>A uc003bkv.4 - 14 2607 c.2514C>T c.(2512-2514)atC>atT p.I838I PLXNB2_uc003bkt.1_5'Flank|PLXNB2_uc003bku.1_5'Flank NM_012401 NP_036533 O15031 PLXB2_HUMAN Homo sapiens plexin B2 (PLXNB2), mRNA. 838 IPT/TIG 1. regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CGGCCACAGAGATCCTCTGGA 0.642000 17 5 0 0 0.000602 0 0 DNAJC13 23317 broad.mit.edu 37 3 132165331 132165331 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr3:132165331C>T uc003eor.3 + 2 146 c.81C>T c.(79-81)gtC>gtT p.V27V DNAJC13_uc010htq.2_Silent_p.V27V NM_015268 NP_056083 O75165 DJC13_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 13 (DNAJC13), mRNA. 27 heat shock protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1) 34 ATAAGCGTGTCTTTTCAGTTG 0.294000 28 11 0 0 0.002450 0 0 ODZ4 26011 broad.mit.edu 37 11 78399181 78399181 + Silent SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr11:78399181G>A uc001ozl.4 - 28 5641 c.5178C>T c.(5176-5178)gtC>gtT p.V1726V NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA. 1726 signal transduction integral to membrane breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 TCTCTACCTGGACATGCACTG 0.547000 108 39 0 0 0.005524 0 0 ZNF280A 129025 broad.mit.edu 37 22 22869886 22869886 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr22:22869886C>T uc002zwe.3 - 1 322 c.69G>A c.(67-69)agG>agA p.R23R abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280A_uc021wmo.1_Silent_p.R23R NM_080740 NP_542778 P59817 Z280A_HUMAN Homo sapiens zinc finger protein 280A (ZNF280A), mRNA. 23 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 18 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) CATCCTCCTCCCTTTGTTTGG 0.383000 63 15 0 0 0.004007 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140767862 140767862 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr5:140767862C>T uc003lkc.2 + 0 411 c.411C>T c.(409-411)tcC>tcT p.S137S PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR NM_003736 NP_003727 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA. 137 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCAAAATTCCTTTGAGCTGC 0.433000 17 8 0 0 0.008291 0 0 SCN3A 6328 broad.mit.edu 37 2 165987886 165987886 + Silent SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:165987886G>A uc002ucx.3 - 15 2925 c.2433C>T c.(2431-2433)atC>atT p.I811I SCN3A_uc002ucy.3_Silent_p.I762I|SCN3A_uc002ucz.3_Silent_p.I762I|SCN3A_uc002uda.1_Silent_p.I631I|SCN3A_uc002udb.1_Silent_p.I631I NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA. 811 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) CCATGGCAATGATCTTGAGAA 0.388000 57 21 0 0 0.002780 0 0 CA4 762 broad.mit.edu 37 17 58235079 58235079 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr17:58235079G>A uc002iym.4 + 4 537 c.443G>A c.(442-444)gGg>gAg p.G148E CA4_uc010wou.2_Intron NM_000717 NP_000708 P22748 CAH4_HUMAN Homo sapiens carbonic anhydrase IV (CA4), mRNA. 148 bicarbonate transport|one-carbon metabolic process ER-Golgi intermediate compartment|anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane carbonate dehydratase activity|protein binding|zinc ion binding kidney(1)|large_intestine(2)|lung(5)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.83e-12)|all cancers(12;6.83e-11) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021) AAAGAGAAGGGGACATCGAGG 0.587000 58 12 0 0 0.013537 0 0 OR6C70 390327 broad.mit.edu 37 12 55863458 55863458 + Silent SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr12:55863458G>A uc010spn.2 - 0 465 c.465C>T c.(463-465)ttC>ttT p.F155F NM_001005499 NP_001005499 A6NIJ9 O6C70_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 70 (OR6C70), mRNA. 155 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 18 TCAGTGGAGTGAAAATGATCA 0.368000 29 11 0 0 0.010729 0 0 FCAR 2204 broad.mit.edu 37 19 55401052 55401052 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr19:55401052C>T uc002qhr.1 + 4 884 c.687C>T c.(685-687)atC>atT p.I229I FCAR_uc002qhs.1_Non-coding_Transcript|FCAR_uc002qht.1_Silent_p.I180I|FCAR_uc010esi.1_Silent_p.I106I|FCAR_uc002qhu.1_Silent_p.I133I|FCAR_uc002qhv.1_Silent_p.I207I|FCAR_uc002qhw.1_Silent_p.I217I|FCAR_uc002qhx.1_Silent_p.I121I|FCAR_uc002qhy.1_Silent_p.I195I|FCAR_uc002qhz.1_Missense_Mutation_p.P193S|FCAR_uc002qia.1_Silent_p.I120I NM_002000 NP_001991 P24071 FCAR_HUMAN Homo sapiens Fc fragment of IgA, receptor for (FCAR), transcript variant 1, mRNA. 229 immune response extracellular region|integral to plasma membrane IgA binding|receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2) 24 GBM - Glioblastoma multiforme(193;0.0443) AGAACTTGATCCGCATGGCCG 0.532000 307 63 0 0 0.014410 0 0 CAMKV 79012 broad.mit.edu 37 3 49899749 49899749 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr3:49899749C>T uc003cxt.1 - 1 266 c.73G>A c.(73-75)Gat>Aat p.D25N CAMKV_uc011bcy.1_Intron|CAMKV_uc003cxv.1_Missense_Mutation_p.D25N|CAMKV_uc003cxw.1_5'UTR|CAMKV_uc003cxx.1_5'UTR|CAMKV_uc003cxu.2_Missense_Mutation_p.D25N|CAMKV_uc011bcz.1_Missense_Mutation_p.M1I|CAMKV_uc011bda.1_Missense_Mutation_p.D25N|CAMKV_uc011bdb.1_Non-coding_Transcript NM_024046 NP_076951 Q8NCB2 CAMKV_HUMAN Homo sapiens CaM kinase-like vesicle-associated (CAMKV), mRNA. 25 Protein kinase. cytoplasmic vesicle membrane|plasma membrane ATP binding|protein serine/threonine kinase activity central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2) 7 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) TGTCCCAAATCATATCTGTCA 0.577000 30 8 0 0 0.003080 0 0 CLLU1OS 574016 broad.mit.edu 37 12 92814813 92814813 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr12:92814813C>T uc001tcb.1 - 2 281 c.279G>A c.(277-279)ggG>ggA p.G93G CLLU1_uc001tcc.2_5'Flank|CLLU1_uc001tcd.2_5'Flank|CLLU1_uc001tce.1_5'Flank|CLLU1_uc001tcf.2_5'Flank NM_001025232 NP_001020403 Q5K130 CLU1O_HUMAN Homo sapiens chronic lymphocytic leukemia up-regulated 1 opposite strand (CLLU1OS), mRNA. 93 p.D92N(1) large_intestine(1)|lung(7) 8 CTTCCTTCTTCCCATCATCAT 0.428000 171 48 0 0 0.014410 0 0 KLK2 3817 broad.mit.edu 37 19 51379954 51379954 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr19:51379954G>A uc002ptv.3 + 2 474 c.433G>A c.(433-435)Gag>Aag p.E145K KLK2_uc010eog.3_Missense_Mutation_p.E43K|KLK2_uc010yck.2_Missense_Mutation_p.E145K|KLK2_uc002ptt.3_Non-coding_Transcript|KLK2_uc010ycl.2_Missense_Mutation_p.E128K|KLK2_uc010ycm.2_Missense_Mutation_p.E43K|KLK2_uc002ptu.3_Missense_Mutation_p.E145K NM_005551 NP_005542 P20151 KLK2_HUMAN Homo sapiens kallikrein-related peptidase 2 (KLK2), transcript variant 1, mRNA. 145 Peptidase S1. proteolysis serine-type endopeptidase activity KLK2/ETV1(3)|KLK2/ETV4(2) large_intestine(3)|lung(6)|ovary(1)|skin(1) 11 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871) GCCCACCCAGGAGCCAGCACT 0.617000 T ETV4 prostate 16 11 0 0 0.010729 0 0 DENND2C 163259 broad.mit.edu 37 1 115078781 115078781 + RNA SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr1:115078781C>T uc001eez.3 - 28 c.4862G>A NM_198459 Q68D51 DEN2C_HUMAN Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA. NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3) 37 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) CCCAGCTTCCCAATCGGTGGA 0.507000 12 10 0 0 0.010729 0 0 GRAMD1C 54762 broad.mit.edu 37 3 113658823 113658823 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr3:113658823C>T uc003eaq.4 + 15 1858 c.1782C>T c.(1780-1782)ctC>ctT p.L594L GRAMD1C_uc011bil.2_Non-coding_Transcript|GRAMD1C_uc003ear.3_Silent_p.L427L|GRAMD1C_uc003eas.3_Silent_p.L389L|GRAMD1C_uc003eat.3_Silent_p.L253L NM_017577 NP_001165576 Q8IYS0 GRM1C_HUMAN Homo sapiens GRAM domain containing 1C (GRAMD1C), transcript variant 1, mRNA. 594 integral to membrane NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 26 GTCTCCGCCTCCAAGAAGAGA 0.378000 32 20 0 0 0.012319 0 0 PGK2 5232 broad.mit.edu 37 6 49754580 49754580 + Silent SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr6:49754580G>A uc003ozu.3 - 0 474 c.321C>T c.(319-321)gcC>gcT p.A107A NM_138733 NP_620061 P07205 PGK2_HUMAN Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA. 107 glycolysis cytosol ATP binding|phosphoglycerate kinase activity autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) GGTTGGCACAGGCTTTCTCCA 0.507000 48 21 0 0 0.002780 0 0 MYO18B 84700 broad.mit.edu 37 22 26168458 26168458 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr22:26168458C>T uc003abz.1 + 6 2100 c.1850C>T c.(1849-1851)tCg>tTg p.S617L MYO18B_uc003aca.1_Missense_Mutation_p.S498L|MYO18B_uc010guy.1_Missense_Mutation_p.S498L|MYO18B_uc010guz.1_Missense_Mutation_p.S498L|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_Missense_Mutation_p.S130L NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN Homo sapiens myosin XVIIIB (MYO18B), mRNA. 617 Myosin head-like. nucleus|sarcomere|unconventional myosin complex ATP binding|actin binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CGGGGGCCCTCGGTGCCTTCT 0.642000 26 5 0 0 0.000602 0 0 DRAM1 55332 broad.mit.edu 37 12 102295101 102295101 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr12:102295101G>A uc001tix.3 + 2 695 c.232G>A c.(232-234)Gta>Ata p.V78I DRAM1_uc010svv.2_Missense_Mutation_p.V78I NM_018370 NP_060840 Q8N682 DRAM1_HUMAN Homo sapiens DNA-damage regulated autophagy modulator 1 (DRAM1), mRNA. 78 apoptosis|autophagy integral to membrane|lysosomal membrane central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1) 12 ATACAAAATAGTACAGAAGCA 0.393000 20 13 0 0 0.001855 0 0 ASS1 445 broad.mit.edu 37 9 133342128 133342128 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr9:133342128G>A uc010mza.3 + 6 1173 c.665G>A c.(664-666)aGg>aAg p.R222K ASS1_uc004bzm.3_Missense_Mutation_p.R146K|ASS1_uc004bzn.3_Missense_Mutation_p.R146K NM_054012 NP_446464 P00966 ASSY_HUMAN Homo sapiens argininosuccinate synthase 1 (ASS1), transcript variant 2, mRNA. 146 arginine biosynthetic process|urea cycle cytosol ATP binding|argininosuccinate synthase activity|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(145;0.000514) Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155) GCTCCCTGGAGGATGCCTGAA 0.597000 20 8 0 0 0.006214 0 0 ABCA12 26154 broad.mit.edu 37 2 215854087 215854087 + Silent SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:215854087G>A uc002vew.3 - 25 4015 c.3795C>T c.(3793-3795)ttC>ttT p.F1265F ABCA12_uc002vev.3_Silent_p.F947F|ABCA12_uc010zjn.2_Silent_p.F192F NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA. 1265 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) AAGCAATAAGGAAATAAATGA 0.403000 30 6 0 0 0.001168 0 0 IGSF21 84966 broad.mit.edu 37 1 18703297 18703297 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr1:18703297G>A uc001bau.2 + 7 1488 c.1105G>A c.(1105-1107)Gaa>Aaa p.E369K IGSF21_uc001bav.2_Missense_Mutation_p.E190K NM_032880 NP_116269 Q96ID5 IGS21_HUMAN Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA. 369 Ig-like 2. E -> G (in Ref. 1; BAC11542). extracellular region endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 40 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) CCAACAGAACGAAGTCTTCCC 0.657000 13 11 0 0 0.010729 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140262123 140262123 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr5:140262123C>T uc003lif.2 + 0 270 c.270C>T c.(268-270)atC>atT p.I90I 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_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Silent_p.I90I|PCDHAC2_uc003lid.3_Silent_p.I90I NM_018904 NP_061727 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA. 105 Cadherin 1. 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) ATTCTCGGATCGACCGCGAGG 0.592000 154 35 0 0 0.006999 0 0 NIPAL4 348938 broad.mit.edu 37 5 156899544 156899544 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr5:156899544C>T uc003lwx.4 + 5 1093 c.977C>T c.(976-978)cCc>cTc p.P326L ADAM19_uc003lww.2_Intron|NIPAL4_uc011ddq.2_Missense_Mutation_p.P307L NM_001099287 NP_001092757 Q0D2K0 NIPA4_HUMAN Homo sapiens NIPA-like domain containing 4 (NIPAL4), transcript variant 1, mRNA. 326 integral to membrane receptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1) 22 CACCCGCTCCCCTACATCCTG 0.577000 OREG0016979 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 92 37 0 0 0.004878 0 0 BIRC3 330 broad.mit.edu 37 11 102207729 102207729 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr11:102207729C>T uc001pgx.3 + 8 4506 c.1711C>T c.(1711-1713)Cct>Tct p.P571S NM_182962 NP_892007 Q13489 BIRC3_HUMAN Homo sapiens baculoviral IAP repeat containing 3 (BIRC3), transcript variant 2, mRNA. 571 anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1) 21 all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093) Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0146) AGTGTTTATTCCTTGTGGTCA 0.383000 T MALT1 MALT 25 8 0 0 0.003080 0 0 BSPRY 54836 broad.mit.edu 37 9 116131915 116131915 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr9:116131915C>T uc004bhg.4 + 5 750 c.702C>T c.(700-702)atC>atT p.I234I BSPRY_uc010muw.3_Nonsense_Mutation_p.R193* NM_017688 NP_060158 Q5W0U4 BSPRY_HUMAN Homo sapiens B-box and SPRY domain containing (BSPRY), mRNA. 234 B30.2/SPRY. calcium ion transport cytoplasm|membrane zinc ion binding breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 ACATACGGATCGATGAGAGGA 0.562000 44 17 0 0 0.012319 0 0 PCDHB9 56127 broad.mit.edu 37 5 140568275 140568275 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr5:140568275G>A uc003liw.1 + 1 1381 c.1381G>A c.(1381-1383)Gag>Aag p.E461K NM_019119 NP_061992 Q9Y5E1 PCDB9_HUMAN Homo sapiens protocadherin beta 9 (PCDHB9), mRNA. 462 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTTCGTCCGGGAGAACAACAG 0.627000 97 36 0 0 0.004289 0 0 CACNA1E 777 broad.mit.edu 37 1 181762858 181762858 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr1:181762858C>T uc009wxt.3 + 44 6151 c.5956C>T c.(5956-5958)Cct>Tct p.P1986S CACNA1E_uc001gow.3_Intron|CACNA1E_uc009wxs.3_Intron NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 1986 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CATCTACCTTCCTTCGGACAC 0.507000 9 6 0 0 0.001984 0 0 OR4C3 256144 broad.mit.edu 37 11 48346753 48346753 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr11:48346753C>T uc010rhv.2 + 0 261 c.261C>T c.(259-261)ttC>ttT p.F87F NM_001004702 NP_001004702 Q8NH37 OR4C3_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA. 60 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 TGTATTTTTTCCTGGCCAACC 0.453000 69 6 0 0 0.001168 0 0 ZNF208 7757 broad.mit.edu 37 19 22156029 22156029 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr19:22156029G>A uc021urr.1 - 3 1956 c.1807C>T c.(1807-1809)Cat>Tat p.H603Y ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 Homo sapiens zinc finger protein 208 (ZNF208), mRNA. breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) TCACCAGTATGAATTCTCTTA 0.358000 23 9 0 0 0.006214 0 0 ENTPD1 953 broad.mit.edu 37 10 97604314 97604314 + Silent SNP T C C TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr10:97604314T>C uc010qoj.2 + 4 594 c.531T>C c.(529-531)ggT>ggC p.G177G ENTPD1_uc001kle.1_Silent_p.G172G|ENTPD1_uc001kli.4_Silent_p.G172G|LOC728558_uc001klg.2_Intron|ENTPD1_uc010qok.2_Silent_p.G57G|ENTPD1_uc010qol.2_Silent_p.G57G|ENTPD1_uc001klh.4_Silent_p.G165G|ENTPD1_uc010qom.2_Silent_p.G165G|ENTPD1_uc010qon.2_Silent_p.G27G|ENTPD1_uc009xva.3_Silent_p.G27G NM_001164178 NP_001157655 P49961 ENTP1_HUMAN Homo sapiens ectonucleoside triphosphate diphosphohydrolase 1 (ENTPD1), transcript variant 3, mRNA. 165 cell adhesion integral to plasma membrane ATP binding cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1) 16 Colorectal(252;0.0821) Epithelial(162;1.31e-07)|all cancers(201;5.33e-06) ACTTCCAGGGTGCCAGGATCA 0.498000 79 35 0 0 0.004878 0 0 ZNF529 57711 broad.mit.edu 37 19 37037968 37037968 + Silent SNP T G G TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr19:37037968T>G uc002oeh.4 - 4 1694 c.1492A>C c.(1492-1494)Aga>Cga p.R498R ZNF529_uc010xth.2_Silent_p.R498R|ZNF529_uc010xti.2_Silent_p.R480R|ZNF529_uc002oeg.4_Silent_p.R393R NM_020951 NP_001139122 Q6P280 ZN529_HUMAN Homo sapiens zinc finger protein 529 (ZNF529), transcript variant 2, mRNA. 465 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Esophageal squamous(110;0.198) GTATGAATTCTCTGATGTTCT 0.398000 22 8 0 0 0.003080 0 0 C2orf16 84226 broad.mit.edu 37 2 27801614 27801614 + Silent SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:27801614G>A uc002rkz.4 + 0 2226 c.2175G>A c.(2173-2175)ggG>ggA p.G725G NM_032266 NP_115642 Q68DN1 CB016_HUMAN Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA. 725 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) TACAAGTAGGGACTGACTTCT 0.433000 51 17 0 0 0.004990 0 0 TTYH2 94015 broad.mit.edu 37 17 72256272 72256272 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr17:72256272C>T uc002jkc.3 + 13 1560 c.1529C>T c.(1528-1530)tCt>tTt p.S510F TTYH2_uc010wqw.2_Missense_Mutation_p.S489F|TTYH2_uc002jkd.3_Missense_Mutation_p.S189F NM_032646 NP_116035 Q9BSA4 TTYH2_HUMAN Homo sapiens tweety homolog 2 (Drosophila) (TTYH2), transcript variant 1, mRNA. 510 chloride channel complex|plasma membrane chloride channel activity|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1) 36 TGGCAGTACTCTCCCAGCATG 0.582000 133 41 0 0 0.011902 0 0 SLC22A16 85413 broad.mit.edu 37 6 110777798 110777798 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr6:110777798G>A uc003puf.3 - 1 543 c.476C>T c.(475-477)cCc>cTc p.P159L SLC22A16_uc003pue.3_Missense_Mutation_p.P140L|SLC22A16_uc003pug.3_Missense_Mutation_p.P159L NM_033125 NP_149116 Q86VW1 S22AG_HUMAN Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA. 159 acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) CATAAATAGGGGCTGGATCAG 0.443000 46 18 0 0 0.006122 0 0 POP1 10940 broad.mit.edu 37 8 99168559 99168559 + Missense_Mutation SNP C T T rs149744031 byFrequency TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr8:99168559C>T uc003yij.4 + 14 2439 c.2339C>T c.(2338-2340)tCg>tTg p.S780L POP1_uc011lgv.2_Missense_Mutation_p.S780L|POP1_uc003yik.3_Missense_Mutation_p.S780L NM_001145860 NP_055844 Q99575 POP1_HUMAN Homo sapiens processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) (POP1), transcript variant 1, mRNA. 780 tRNA 5'-leader removal|tRNA catabolic process nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease MRP activity|ribonuclease P activity autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) TGTCAAGAATCGGCAGGGCCT 0.542000 88 41 0 0 0.013114 0 0 PPFIA2 8499 broad.mit.edu 37 12 81747054 81747054 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr12:81747054G>A uc001szo.2 - 16 1999 c.1838C>T c.(1837-1839)cCt>cTt p.P613L PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.P539L|PPFIA2_uc021rbh.1_Missense_Mutation_p.P514L|PPFIA2_uc021rbi.1_Missense_Mutation_p.P613L|PPFIA2_uc021rbj.1_Missense_Mutation_p.P613L|PPFIA2_uc021rbk.1_Missense_Mutation_p.P595L|PPFIA2_uc021rbl.1_Missense_Mutation_p.P613L|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Missense_Mutation_p.P180L|PPFIA2_uc021rbf.1_5'UTR NM_003625 NP_003616 B7Z663 B7Z663_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA. 539 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 ACTTTCAAAAGGGTGGCTGCT 0.393000 38 13 0 0 0.004007 0 0 MYH2 4620 broad.mit.edu 37 17 10440988 10440988 + Silent SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr17:10440988G>A uc010coi.3 - 14 1709 c.1581C>T c.(1579-1581)atC>atT p.I527I AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.I527I|MYH2_uc010coj.3_Silent_p.I527I NM_001100112 NP_060004 Q9UKX2 MYH2_HUMAN Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA. 527 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CAACCTTCTCGATGAGCTCGA 0.428000 74 21 0 0 0.005443 0 0 PLA2G4A 5321 broad.mit.edu 37 1 186901934 186901934 + Nonsense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr1:186901934C>T uc001gsc.3 + 7 803 c.598C>T c.(598-600)Cga>Tga p.R200* PLA2G4A_uc010pos.2_Nonsense_Mutation_p.R140* NM_024420 NP_077734 P47712 PA24A_HUMAN Homo sapiens phospholipase A2, group IVA (cytosolic, calcium-dependent) (PLA2G4A), mRNA. 200 PLA2c. phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation cytosol|endoplasmic reticulum membrane calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1) 53 Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103) TGGGGGTTTCCGAGCCATGGT 0.458000 100 31 0 0 0.012213 0 0 ATG9B 285973 broad.mit.edu 37 7 150715841 150715841 + Silent SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr7:150715841G>A uc011kvc.2 - 5 1660 c.1584C>T c.(1582-1584)gcC>gcT p.A528A ATG9B_uc003wig.4_Intron NM_173681 NP_775952 Q674R7 ATG9B_HUMAN Homo sapiens ATG9 autophagy related 9 homolog B (S. cerevisiae) (ATG9B), mRNA. 528 autophagic vacuole assembly autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1) 14 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CGAGCTGGCGGGCCAGCAGCG 0.746000 8 4 0 0 0.000602 0 0 NTN4 59277 broad.mit.edu 37 12 96131685 96131685 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr12:96131685G>A uc001tei.3 - 2 1272 c.823C>T c.(823-825)Cat>Tat p.H275Y NTN4_uc009ztf.3_Missense_Mutation_p.H275Y|NTN4_uc009ztg.3_Missense_Mutation_p.H238Y NM_021229 NP_067052 Q9HB63 NET4_HUMAN Homo sapiens netrin 4 (NTN4), mRNA. 275 Laminin EGF-like 1. axon guidance basement membrane|plasma membrane NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 CTGAAGCCATGAACAGGTATG 0.453000 40 22 0 0 0.002780 0 0 PYDC2 152138 broad.mit.edu 37 3 191178959 191178959 + Missense_Mutation SNP C A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr3:191178959C>A uc011bso.2 + 0 8 c.8C>A c.(7-9)tCt>tAt p.S3Y NM_001083308 NP_001076777 Q56P42 PYDC2_HUMAN Homo sapiens pyrin domain containing 2 (PYDC2), mRNA. 3 DAPIN. cytoplasm|nucleus breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 10 AAGATGGCATCTTCTGCAGAG 0.453000 58 17 8.10497e-08 2.22094e-07 0.010504 1 0 TMEM74 157753 broad.mit.edu 37 8 109797318 109797318 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr8:109797318G>A uc003ymy.1 - 1 115 c.10C>T c.(10-12)Cac>Tac p.H4Y TMEM74_uc003ymx.3_Intron|TMEM74_uc022azr.1_Missense_Mutation_p.H4Y NM_153015 NP_694560 Q96NL1 TMM74_HUMAN Homo sapiens transmembrane protein 74 (TMEM74), mRNA. 4 autophagy autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(57;3.08e-10) GCAAGGTAGTGGAGCTCCATG 0.527000 54 6 0 0 0.001984 0 0 GPR20 2843 broad.mit.edu 37 8 142367222 142367222 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr8:142367222G>A uc022bby.1 - 0 802 c.802C>T c.(802-804)Ccc>Tcc p.P268S GPR20_uc003ywf.3_Missense_Mutation_p.P268S NM_005293 NP_005284 Q99678 GPR20_HUMAN Homo sapiens G protein-coupled receptor 20 (GPR20), mRNA. 268 integral to plasma membrane G-protein coupled receptor activity NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 15 all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0415) GGCATGTCGGGCCACAGCGCC 0.652000 20 33 0 0 0.012213 0 0 ZNF418 147686 broad.mit.edu 37 19 58437835 58437835 + Missense_Mutation SNP C G G TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr19:58437835C>G uc002qqs.1 - 3 2006 c.1714G>C c.(1714-1716)Ggg>Cgg p.G572R ZNF418_uc010yhn.1_Non-coding_Transcript|ZNF418_uc010yho.1_Missense_Mutation_p.G487R NM_133460 NP_597717 Q8TF45 ZN418_HUMAN Homo sapiens zinc finger protein 418 (ZNF418), mRNA. 572 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G572V(1) cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 31 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158) AAGAATTTCCCACATTCTCTG 0.443000 31 16 0 0 0.004007 0 0 FAM71B 153745 broad.mit.edu 37 5 156590262 156590262 + Silent SNP T A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr5:156590262T>A uc003lwn.3 - 1 1114 c.1014A>T c.(1012-1014)tcA>tcT p.S338S NM_130899 NP_570969 Q8TC56 FA71B_HUMAN Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA. 338 nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TAATACCCTCTGAGGATATGT 0.572000 333 106 0 0 0.014410 0 0 KIR3DL2 3812 broad.mit.edu 37 19 55331168 55331168 + Splice_Site SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr19:55331168G>A uc002qhl.4 + 4 419 c.356_splice c.e4-1 p.G119_splice KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Splice_Site_p.G119_splice|KIR3DL2_uc010esf.3_Splice_Site_p.G24_splice|KIR3DL2_uc021vbo.1_Splice_Site_p.G119_splice|KIR3DL2_uc002qhk.4_Splice_Site_p.G119_splice P43630 KI3L2_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA. 119 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) CTCTTTCTAGGAAACCACAGA 0.502000 42 16 0 0 0.009535 0 0 MKL1 57591 broad.mit.edu 37 22 40819558 40819558 + Silent SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr22:40819558G>A uc003ayv.1 - 5 816 c.609C>T c.(607-609)tcC>tcT p.S203S MKL1_uc010gyf.1_Intron|MKL1_uc003ayw.1_Silent_p.S203S|MKL1_uc010gye.1_Silent_p.S203S NM_020831 NP_065882 Q969V6 MKL1_HUMAN Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA. 203 Mediates interaction with SCAI and ACTB (By similarity). positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 30 GTGTGGGGGTGGACTTGGCAG 0.572000 T RBM15 acute megakaryocytic leukemia 35 14 0 0 0.001855 0 0 SCAND3 114821 broad.mit.edu 37 6 28543318 28543318 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr6:28543318C>T uc003nlo.3 - 2 1782 c.1164G>A c.(1162-1164)ggG>ggA p.G388G NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN Homo sapiens SCAN domain containing 3 (SCAND3), mRNA. 388 Integrase catalytic. DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity p.G388W(1) NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 ATCTGTACTCCCCATCAGGAT 0.343000 47 14 0 0 0.001855 0 0 GPNMB 10457 broad.mit.edu 37 7 23293870 23293870 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr7:23293870C>T uc003swc.3 + 2 467 c.306C>T c.(304-306)ttC>ttT p.F102F GPNMB_uc003swa.2_Silent_p.F102F|GPNMB_uc003swb.3_Silent_p.F102F|GPNMB_uc011jyy.2_Silent_p.F102F|GPNMB_uc011jyz.2_Intron NM_001005340 NP_001005340 Q14956 GPNMB_HUMAN Homo sapiens glycoprotein (transmembrane) nmb (GPNMB), transcript variant 1, mRNA. 102 negative regulation of cell proliferation melanosome breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2) 41 GBM - Glioblastoma multiforme(13;0.154) ACCTGATATTCCCTAGATGCC 0.473000 95 44 0 0 0.011902 0 0 KIAA1429 25962 broad.mit.edu 37 8 95508607 95508607 + Missense_Mutation SNP G C C TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr8:95508607G>C uc003ygo.2 - 17 4403 c.4332C>G c.(4330-4332)agC>agG p.S1444R KIAA1429_uc010maz.2_Non-coding_Transcript NM_015496 NP_056311 Q69YN4 VIR_HUMAN Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA. 1444 RNA splicing|mRNA processing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) TTTCTTCTTTGCTTTGTAGAA 0.388000 35 11 0 0 0.010729 0 0 LARP1B 55132 broad.mit.edu 37 4 129043225 129043225 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr4:129043225C>T uc003iga.3 + 10 1537 c.1406C>T c.(1405-1407)aCc>aTc p.T469I LARP1B_uc003igc.3_5'UTR|LARP1B_uc003ifz.1_Missense_Mutation_p.T469I|LARP1B_uc003igb.1_Missense_Mutation_p.T184I NM_018078 NP_060548 Q659C4 LAR1B_HUMAN Homo sapiens La ribonucleoprotein domain family, member 1B (LARP1B), transcript variant 1, mRNA. 469 RNA binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3) 34 CGAACAGGCACCCACATGTCT 0.373000 28 11 0 0 0.010729 0 0 ANO4 121601 broad.mit.edu 37 12 101520699 101520699 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr12:101520699C>T uc010svm.1 + 26 3291 c.2719C>T c.(2719-2721)Cca>Tca p.P907S ANO4_uc001thw.2_Missense_Mutation_p.P872S|ANO4_uc001thx.2_Missense_Mutation_p.P907S|ANO4_uc001thy.2_Missense_Mutation_p.P427S NM_178826 NP_849148 Q32M45 ANO4_HUMAN Homo sapiens anoctamin 4 (ANO4), mRNA. 907 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 ATATCTGATCCCAGACCTCCC 0.443000 HNSCC(74;0.22) 26 5 0 0 0.000602 0 0 WWC1 23286 broad.mit.edu 37 5 167882460 167882460 + Nonsense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr5:167882460C>T uc003lzu.3 + 18 2851 c.2758C>T c.(2758-2760)Cga>Tga p.R920* WWC1_uc003lzv.3_Nonsense_Mutation_p.R920*|WWC1_uc011den.2_Nonsense_Mutation_p.R920*|WWC1_uc003lzw.3_Nonsense_Mutation_p.R719*|WWC1_uc010jjf.1_Nonsense_Mutation_p.R192* NM_015238 NP_056053 Q8IX03 KIBRA_HUMAN Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA. 920 Interaction with histone H3. 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) GCCATTTCTTCGAGGGAGCAC 0.642000 91 33 0 0 0.003271 0 0 EPPK1 83481 broad.mit.edu 37 8 144946505 144946505 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr8:144946505G>A uc003zaa.1 - 0 930 c.917C>T c.(916-918)aCc>aTc p.T306I NM_031308 NP_112598 P58107 EPIPL_HUMAN Homo sapiens epiplakin 1 (EPPK1), mRNA. 306 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CAGGTGCTCGGTGGCAGCCTG 0.682000 147 29 0 0 0.003271 0 0 DSCAM 1826 broad.mit.edu 37 21 42080489 42080489 + Silent SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr21:42080489G>A uc002yyq.1 - 1 704 c.252C>T c.(250-252)ttC>ttT p.F84F DSCAM_uc002yyr.1_Non-coding_Transcript NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 84 Ig-like C2-type 1. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GAGGGAAGGGGAAAATTTGGA 0.498000 46 18 0 0 0.007413 0 0 AMHR2 269 broad.mit.edu 37 12 53818965 53818965 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr12:53818965G>A uc001scx.2 + 3 521 c.441G>A c.(439-441)atG>atA p.M147I AMHR2_uc009zmy.2_Missense_Mutation_p.M147I|AMHR2_uc021qyg.1_Missense_Mutation_p.M147I NM_020547 NP_065434 Q16671 AMHR2_HUMAN Homo sapiens anti-Mullerian hormone receptor, type II (AMHR2), transcript variant 1, mRNA. 147 Mullerian duct regression ATP binding|hormone binding|metal ion binding breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2) 34 Adenosine triphosphate(DB00171) CCATCTGGATGGCACTGGTGC 0.587000 67 25 0 0 0.009535 0 0 ACE 1636 broad.mit.edu 37 17 61571304 61571304 + Missense_Mutation SNP T C C TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr17:61571304T>C uc002jau.2 + 20 3192 c.3158T>C c.(3157-3159)aTg>aCg p.M1053T ACE_uc010wpj.2_Missense_Mutation_p.M479T|ACE_uc010ddv.2_Missense_Mutation_p.M280T|ACE_uc002jav.2_Missense_Mutation_p.M479T|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_Missense_Mutation_p.M299T NM_000789 NP_000780 P12821 ACE_HUMAN Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA. 1053 Peptidase M2 2. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) AACTTTCTGATGAAGATGGCC 0.552000 46 16 0 0 0.010504 0 0 MBL2 4153 broad.mit.edu 37 10 54531368 54531368 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr10:54531368G>A uc001jjt.3 - 0 93 c.28C>T c.(28-30)Ctt>Ttt p.L10F NM_000242 NP_000233 P11226 MBL2_HUMAN Homo sapiens mannose-binding lectin (protein C) 2, soluble (MBL2), mRNA. 10 acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress collagen|extracellular space bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 CTCAGGAGAAGGAGAGGGAGT 0.498000 8 3 0 0 0.004672 0 0 GEM 2669 broad.mit.edu 37 8 95265294 95265294 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr8:95265294C>T uc003ygi.3 - 2 502 c.378G>A c.(376-378)acG>acA p.T126T GEM_uc003ygj.3_Silent_p.T126T NM_181702 NP_859053 P55040 GEM_HUMAN Homo sapiens GTP binding protein overexpressed in skeletal muscle (GEM), transcript variant 2, mRNA. 126 cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction internal side of plasma membrane GDP binding|GTP binding|GTPase activity|calmodulin binding|magnesium ion binding endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 22 Breast(36;4.65e-06) Myeloproliferative disorder(644;0.204) BRCA - Breast invasive adenocarcinoma(8;0.00691) GGAGTATAATCGTTGCACTTT 0.418000 49 32 0 0 0.004878 0 0 MTUS1 57509 broad.mit.edu 37 8 17581343 17581343 + Splice_Site SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr8:17581343C>T uc003wxv.3 - 4 2762 c.2288_splice c.e4-1 p.G763_splice MTUS1_uc003wxt.3_5'Flank|MTUS1_uc011kyg.2_5'Flank|MTUS1_uc010lsy.3_Splice_Site|MTUS1_uc003wxw.3_Intron|MTUS1_uc010lsz.3_Intron NM_001001924 NP_001001924 Q9ULD2 MTUS1_HUMAN Homo sapiens microtubule associated tumor suppressor 1 (MTUS1), transcript variant 1, mRNA. 763 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1) 36 Colorectal(111;0.0778) GTAGGCTTTCCTTGGGGTTTA 0.423000 54 20 0 0 0.008871 0 0 HEATR8 374977 broad.mit.edu 37 1 55161093 55161093 + Missense_Mutation SNP A G G TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr1:55161093A>G uc010ooe.1 + 16 3218 c.2894A>G c.(2893-2895)tAc>tGc p.Y965C HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ooc.1_Intron|HEATR8_uc010ood.1_Missense_Mutation_p.Y483C|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Missense_Mutation_p.Y965C|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_Missense_Mutation_p.Y167C|HEATR8_uc001cxu.3_Missense_Mutation_p.Y111C NM_001039464 NP_001034553 Q68CQ1 HEAT8_HUMAN Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA. 965 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 CGCATCCTCTACCTGCTCATC 0.662000 7 3 0 0 0.009096 0 0 SVEP1 79987 broad.mit.edu 37 9 113169591 113169591 + Nonsense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr9:113169591C>T uc010mtz.3 - 37 8626 c.8289G>A c.(8287-8289)tgG>tgA p.W2763* SVEP1_uc010mty.3_Nonsense_Mutation_p.W689* NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA. 2763 Sushi 22. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 AGGCACCACTCCACTTTCTAT 0.463000 66 21 0 0 0.008871 0 0 NLRP13 126204 broad.mit.edu 37 19 56443602 56443602 + Nonsense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr19:56443602G>A uc010ygg.2 - 0 101 c.76C>T c.(76-78)Cag>Tag p.Q26* NM_176810 NP_789780 Q86W25 NAL13_HUMAN Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA. 26 DAPIN. ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) AGCTGATACTGATCCAGGGCC 0.552000 52 16 0 0 0.007413 0 0 OR4N2 390429 broad.mit.edu 37 14 20296402 20296402 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr14:20296402C>T uc010tkv.2 + 0 795 c.795C>T c.(793-795)ttC>ttT p.F265F NM_001004723 NP_001004723 Q8NGD1 OR4N2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA. 265 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A264S(1) breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TCAGGGCTTTCCCAGCTGACA 0.453000 23 19 0 0 0.014323 0 0 MAGEB18 286514 broad.mit.edu 37 X 26157834 26157834 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chrX:26157834G>A uc022bub.1 + 0 732 c.732G>A c.(730-732)atG>atA p.M244I MAGEB18_uc004dbq.2_Missense_Mutation_p.M244I NM_173699 NP_775970 Q96M61 MAGBI_HUMAN Homo sapiens melanoma antigen family B, 18 (MAGEB18), mRNA. 244 MAGE. protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2) 33 GGAAGGTCATGACCAAAGATT 0.512000 12 4 0 0 0.000602 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74507410 74507410 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr1:74507410C>T uc001dfy.4 - 6 1397 c.1205G>A c.(1204-1206)cGg>cAg p.R402Q LRRIQ3_uc001dfz.4_Non-coding_Transcript NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA. 402 p.R402Q(4)|p.R402W(1)|p.R402R(1) NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 TTTCATACTCCGCTCCAATCG 0.353000 26 11 0 0 0.010729 0 0 PDK3 5165 broad.mit.edu 37 X 24546235 24546235 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chrX:24546235C>T uc004dbg.3 + 8 1124 c.895C>T c.(895-897)Cgt>Tgt p.R299C PDK3_uc004dbh.3_Missense_Mutation_p.R299C NM_005391 NP_005382 Q15120 PDK3_HUMAN Homo sapiens pyruvate dehydrogenase kinase, isozyme 3 (PDK3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 299 Histidine kinase. glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity p.R299C(2) NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 AAAAATAGATCGTCTTTTTAA 0.423000 30 7 0 0 0.003080 0 0 PAPPA2 60676 broad.mit.edu 37 1 176640113 176640113 + Missense_Mutation SNP A G G TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr1:176640113A>G uc001gkz.3 + 3 3163 c.1999A>G c.(1999-2001)Atg>Gtg p.M667V PAPPA2_uc001gky.1_Missense_Mutation_p.M667V|PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 667 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TAGGGCATACATGAGTGTGAA 0.483000 140 44 0 0 0.014410 0 0 PREX2 80243 broad.mit.edu 37 8 69104649 69104649 + Missense_Mutation SNP G C C TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr8:69104649G>C uc003xxv.1 + 36 4520 c.4493G>C c.(4492-4494)tGt>tCt p.C1498S NM_024870 NP_079146 Q70Z35 PREX2_HUMAN Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA. 1498 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding p.C1498C(1) NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 ACAGCTGCCTGTGCAAACACA 0.527000 31 3 0 0 0.004672 0 0 MARCH6 10299 broad.mit.edu 37 5 10415637 10415637 + Silent SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr5:10415637G>A uc003jet.1 + 20 2187 c.2004G>A c.(2002-2004)ggG>ggA p.G668G MARCH6_uc011cmu.1_Silent_p.G620G|MARCH6_uc003jeu.1_Silent_p.G366G|MARCH6_uc011cmv.1_Silent_p.G563G NM_005885 NP_005876 O60337 MARH6_HUMAN Homo sapiens membrane-associated ring finger (C3HC4) 6 (MARCH6), mRNA. 668 protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding p.T667T(1)|p.T667M(1) breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3) 54 TTTGGACGGGGACTGCCAAAA 0.463000 81 29 0 0 0.008361 0 0 SGIP1 84251 broad.mit.edu 37 1 67194951 67194951 + Missense_Mutation SNP A T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr1:67194951A>T uc001dcr.3 + 19 1964 c.1747A>T c.(1747-1749)Atc>Ttc p.I583F SGIP1_uc010opd.2_Missense_Mutation_p.I183F|SGIP1_uc001dcs.3_Missense_Mutation_p.I183F|SGIP1_uc001dct.3_Missense_Mutation_p.I185F|SGIP1_uc009wat.3_Missense_Mutation_p.I377F|SGIP1_uc001dcu.3_Missense_Mutation_p.I88F NM_032291 NP_115667 Q9BQI5 SGIP1_HUMAN Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA. 583 positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex SH3 domain binding|microtubule binding|phospholipid binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 71 TGCCAGATGTATCGTTAAGAT 0.423000 22 9 0 0 0.008291 0 0 OR8B8 26493 broad.mit.edu 37 11 124310859 124310859 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr11:124310859C>T uc010sal.2 - 0 123 c.123G>A c.(121-123)ggG>ggA p.G41G NM_012378 NP_036510 Q15620 OR8B8_HUMAN Homo sapiens olfactory receptor, family 8, subfamily B, member 8 (OR8B8), mRNA. 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) AGCCCAGGTTCCCCACCACAG 0.488000 44 25 0 0 0.004656 0 0 FAM75C1 441452 broad.mit.edu 37 9 90535284 90535284 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr9:90535284G>A uc010mqi.3 + 3 491 c.462G>A c.(460-462)atG>atA p.M154I FAM75C1_uc004apq.4_Missense_Mutation_p.M137I NM_001145124 NP_001138596 Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA. ATGAGCCTATGGAAGATGCTG 0.577000 116 41 0 0 0.014410 0 0 TTN 7273 broad.mit.edu 37 2 179457686 179457686 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:179457686C>T uc021vsy.1 - 248 51681 c.51456G>A c.(51454-51456)caG>caA p.Q17152Q MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.Q10847Q|TTN_uc021vta.1_Silent_p.Q10780Q|TTN_uc021vtb.1_Silent_p.Q10655Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 18079 Fibronectin type-III 24. 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) CTCCAACTTTCTGGTACTCAA 0.448000 149 52 0 0 0.014410 0 0 BTBD16 118663 broad.mit.edu 37 10 124043405 124043405 + Silent SNP T C C TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr10:124043405T>C uc001lgc.1 + 3 458 c.207T>C c.(205-207)aaT>aaC p.N69N BTBD16_uc001lgd.1_Silent_p.N68N NM_144587 NP_653188 Q32M84 BTBDG_HUMAN Homo sapiens BTB (POZ) domain containing 16 (BTBD16), mRNA. 69 breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1) 15 all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238) TCTTTGAGAATTTCAAGAACA 0.378000 10 4 0 0 0.001168 0 0 FZD1 8321 broad.mit.edu 37 7 90895683 90895683 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr7:90895683C>T uc003ula.3 + 0 1901 c.1488C>T c.(1486-1488)ttC>ttT p.F496F NM_003505 NP_003496 Q9UP38 FZD1_HUMAN Homo sapiens frizzled family receptor 1 (FZD1), mRNA. 496 G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding|receptor binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215) STAD - Stomach adenocarcinoma(171;0.0134) CGCCCCTCTTCGTGTACCTGT 0.622000 120 46 0 0 0.014410 0 0 MAP3K3 4215 broad.mit.edu 37 17 61730009 61730009 + Missense_Mutation SNP A G G TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr17:61730009A>G uc002jbg.3 + 3 579 c.260A>G c.(259-261)aAc>aGc p.N87S MAP3K3_uc002jbe.3_Missense_Mutation_p.N118S|MAP3K3_uc002jbf.3_Missense_Mutation_p.N118S|MAP3K3_uc002jbh.3_Missense_Mutation_p.N118S|MAP3K3_uc010wpo.2_Missense_Mutation_p.N2S|MAP3K3_uc010wpp.2_Missense_Mutation_p.N87S NM_002401 NP_002392 Q99759 M3K3_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 3 (MAP3K3), transcript variant 2, mRNA. 87 OPR. MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation cytosol ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 28 CATTACATGAACAATGAGGTG 0.443000 16 4 0 0 0.009096 0 0 COL13A1 1305 broad.mit.edu 37 10 71665557 71665557 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr10:71665557C>T uc001jql.3 + 16 1466 c.930C>T c.(928-930)atC>atT p.I310I COL13A1_uc021prz.1_Silent_p.I288I|COL13A1_uc021psa.1_Silent_p.I253I|COL13A1_uc021psb.1_Silent_p.I259I|COL13A1_uc001jqk.2_Silent_p.I288I|COL13A1_uc021psc.1_Silent_p.I291I|COL13A1_uc021psd.1_Silent_p.I288I|COL13A1_uc010qjf.2_Silent_p.I253I|COL13A1_uc021pse.1_Silent_p.I259I|COL13A1_uc021psf.1_Silent_p.I310I|COL13A1_uc021psg.1_Silent_p.I288I|COL13A1_uc021psh.1_Silent_p.I291I NM_001130103 NP_001123575 Q5TAT6 CODA1_HUMAN Homo sapiens collagen, type XIII, alpha 1 (COL13A1), transcript variant 1, mRNA. 310 Triple-helical region 2 (COL2). cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure collagen type XIII|integral to membrane extracellular matrix structural constituent|heparin binding|protein binding endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 28 Atorvastatin(DB01076)|Simvastatin(DB00641) ACCCAGGGATCCAGGGCTACC 0.552000 9 4 0 0 0.000602 0 0 AOAH 313 broad.mit.edu 37 7 36677509 36677509 + Nonsense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr7:36677509C>T uc022abu.1 - 4 799 c.398G>A c.(397-399)tGg>tAg p.W133* AOAH_uc003tfh.4_Nonsense_Mutation_p.W133*|AOAH_uc011kba.2_Nonsense_Mutation_p.W101* NM_001177506 NP_001170977 P28039 AOAH_HUMAN Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA. 133 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 41 TGTAAATTTCCATGTCTCCTA 0.363000 38 5 0 0 0.001168 0 0 FAM19A2 338811 broad.mit.edu 37 12 62147424 62147424 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr12:62147424C>T uc001sqw.3 - 3 1945 c.363G>A c.(361-363)ggG>ggA p.G121G FAM19A2_uc001sqv.3_Non-coding_Transcript|FAM19A2_uc001sqx.3_Silent_p.G121G|FAM19A2_uc001sqy.3_Non-coding_Transcript NM_178539 NP_848634 Q8N3H0 F19A2_HUMAN Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A2 (FAM19A2), mRNA. 121 cytoplasm endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1) 15 GBM - Glioblastoma multiforme(1;0.00484) GBM - Glioblastoma multiforme(3;0.02) TGACTTTATTCCCAGAGGAAC 0.433000 36 14 0 0 0.004007 0 0 CXCR4 7852 broad.mit.edu 37 2 136873378 136873378 + Silent SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:136873378G>A uc002tuz.3 - 1 215 c.120C>T c.(118-120)ttC>ttT p.F40F CXCR4_uc002tuy.3_Silent_p.F44F|CXCR4_uc010fnk.3_Silent_p.F25F NM_003467 NP_003458 P61073 CXCR4_HUMAN Homo sapiens chemokine (C-X-C motif) receptor 4 (CXCR4), transcript variant 2, mRNA. 40 activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane C-X-C chemokine receptor activity|actin binding|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 BRCA - Breast invasive adenocarcinoma(221;0.155) Framycetin(DB00452) TGGTGGGCAGGAAGATTTTAT 0.453000 56 29 0 0 0.006320 0 0 BCL9 607 broad.mit.edu 37 1 147091450 147091450 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr1:147091450C>T uc001epq.3 + 7 2229 c.1489C>T c.(1489-1491)Ctc>Ttc p.L497F BCL9_uc010ozr.1_Missense_Mutation_p.L423F NM_004326 NP_004317 O00512 BCL9_HUMAN Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA. 497 Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) GCAGTGTTCCCTCCAGGACAT 0.587000 T """IGH@, IGL@""" B-ALL 85 23 0 0 0.003954 0 0 MUC16 94025 broad.mit.edu 37 19 9069754 9069754 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr19:9069754G>A uc002mkp.3 - 2 17896 c.17692C>T c.(17692-17694)Cca>Tca p.P5898S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 5900 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCTGAGTGTGGAAATCTCTGA 0.517000 75 26 0 0 0.008361 0 0 RAPGEF3 10411 broad.mit.edu 37 12 48132517 48132517 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr12:48132517C>T uc001rpz.4 - 24 3032 c.2482G>A c.(2482-2484)Gga>Aga p.G828R AL831948_uc001rpv.3_Intron|RAPGEF3_uc001rpw.3_Missense_Mutation_p.G121R|RAPGEF3_uc001rpx.3_Missense_Mutation_p.G243R|RAPGEF3_uc010sln.2_Missense_Mutation_p.G283R|RAPGEF3_uc001rpy.3_Non-coding_Transcript|RAPGEF3_uc009zkp.3_Missense_Mutation_p.G786R|RAPGEF3_uc009zkq.3_Missense_Mutation_p.G786R NM_001098531 NP_006096 A8K2G5 A8K2G5_HUMAN Homo sapiens Rap guanine nucleotide exchange factor (GEF) 3 (RAPGEF3), transcript variant 1, mRNA. 786 regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity p.G786R(1) endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7) 25 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.0375) GTGTGGTTTCCCTCATGAATG 0.478000 74 20 0 0 0.003330 0 0 FBXO40 51725 broad.mit.edu 37 3 121342139 121342139 + Nonsense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr3:121342139G>A uc003eeg.2 + 2 2073 c.1863G>A c.(1861-1863)tgG>tgA p.W621* NM_016298 NP_057382 Q9UH90 FBX40_HUMAN Homo sapiens F-box protein 40 (FBXO40), mRNA. 621 F-box. muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) TTTTGCAATGGAAGAAAAAGA 0.458000 43 12 0 0 0.013537 0 0 ADAM29 11086 broad.mit.edu 37 4 175897457 175897457 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr4:175897457G>A uc003iuc.3 + 4 1451 c.781G>A c.(781-783)Gat>Aat p.D261N ADAM29_uc003iud.3_Missense_Mutation_p.D261N|ADAM29_uc010irr.3_Missense_Mutation_p.D261N|ADAM29_uc011cki.2_Missense_Mutation_p.D261N|ADAM29_uc021xuo.1_Missense_Mutation_p.D261N NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA. 261 Peptidase M12B. proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) TGTAGTAGATGATGTAAGGAA 0.388000 45 25 0 0 0.003954 0 0 SAGE1 55511 broad.mit.edu 37 X 134989122 134989122 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chrX:134989122G>A uc004ezh.3 + 7 941 c.774G>A c.(772-774)atG>atA p.M258I SAGE1_uc010nry.1_Missense_Mutation_p.M227I|SAGE1_uc011mvv.2_Intron NM_018666 NP_061136 Q9NXZ1 SAGE1_HUMAN Homo sapiens sarcoma antigen 1 (SAGE1), mRNA. 258 breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) AGGAGAAGATGGAAAAGGGCC 0.473000 59 19 0 0 0.007413 0 0 WDR85 92715 broad.mit.edu 37 9 140458908 140458908 + Silent SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr9:140458908G>A uc004cnk.1 - 7 1085 c.927C>T c.(925-927)atC>atT p.I309I WDR85_uc004cnj.1_Silent_p.I38I|WDR85_uc004cnm.1_Silent_p.I70I|WDR85_uc010ncl.1_Silent_p.I70I NM_138778 NP_620133 Q9BTV6 WDR85_HUMAN Homo sapiens WD repeat domain 85 (WDR85), mRNA. 309 peptidyl-diphthamide biosynthetic process from peptidyl-histidine breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4) 8 all_cancers(76;0.106) OV - Ovarian serous cystadenocarcinoma(145;0.00029)|Epithelial(140;0.000509) GGCAGTTGAGGATCTTAAAGC 0.627000 22 6 0 0 0.001168 0 0 PLEKHA7 144100 broad.mit.edu 37 11 16838742 16838742 + Silent SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr11:16838742G>A uc010rcu.1 - 10 1486 c.1471C>T c.(1471-1473)Ctg>Ttg p.L491L PLEKHA7_uc001mmo.3_Silent_p.L491L|PLEKHA7_uc010rcv.2_Silent_p.L65L|PLEKHA7_uc001mmn.3_Silent_p.L199L NM_175058 NP_778228 Q6IQ23 PKHA7_HUMAN Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA. 491 epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 TCACTTGGCAGGTTTCGGGGA 0.632000 90 27 0 0 0.009535 0 0 STXBP5L 9515 broad.mit.edu 37 3 121100318 121100318 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr3:121100318C>T uc003eec.4 + 22 2738 c.2598C>T c.(2596-2598)tcC>tcT p.S866S STXBP5L_uc011bji.2_Silent_p.S842S NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA. 866 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) TAATCATCTCCTTAAACCTAC 0.413000 89 21 0 0 0.014323 0 0 DLG4 1742 broad.mit.edu 37 17 7096426 7096426 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr17:7096426C>T uc010vtn.2 - 15 1784 c.1524G>A c.(1522-1524)cgG>cgA p.R508R DLG4_uc010vtm.2_Non-coding_Transcript|DLG4_uc010cly.3_Silent_p.R565R|DLG4_uc002get.4_Silent_p.R611R|DLG4_uc010vto.2_Silent_p.R608R NM_001128827 NP_001122299 P78352 DLG4_HUMAN Homo sapiens discs, large homolog 4 (Drosophila) (DLG4), transcript variant 2, mRNA. 568 axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome protein C-terminus binding|protein binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2) 18 CCCGCTTGGGCCGTGTCGTAT 0.532000 93 25 0 0 0.004656 0 0 RABL2B 11158 broad.mit.edu 37 22 51208364 51208364 + Silent SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr22:51208364G>A uc003bnm.1 - 6 749 c.378C>T c.(376-378)atC>atT p.I126I RPL23AP82_uc011asd.2_Intron|RPL23AP82_uc003bni.3_Intron|RABL2B_uc011ase.1_Intron|RABL2B_uc011asf.1_Silent_p.I126I|RABL2B_uc003bnn.1_Silent_p.I126I|RABL2B_uc003bnk.1_Silent_p.I126I|RABL2B_uc003bno.1_Silent_p.I126I|RABL2B_uc011asg.1_Silent_p.I126I|RABL2B_uc003bnl.1_Silent_p.I126I NM_001130923 NP_001124395 Q9UNT1 RBL2B_HUMAN Homo sapiens RAB, member of RAS oncogene family-like 2B (RABL2B), transcript variant 7, mRNA. 126 small GTPase mediated signal transduction GTP binding|GTPase activity lung(1) 1 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.0539)|LUAD - Lung adenocarcinoma(64;0.247) CGATGCATGGGATCTCTGGCC 0.522000 30 10 0 0 0.010729 0 0 RBP3 5949 broad.mit.edu 37 10 48389649 48389649 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr10:48389649C>T uc001jez.3 - 0 1343 c.1229G>A c.(1228-1230)gGg>gAg p.G410E NM_002900 NP_002891 P10745 RET3_HUMAN Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA. 410 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) TGGGGCCACCCCTGGTGAGTC 0.657000 18 10 0 0 0.010729 0 0 DSG1 1828 broad.mit.edu 37 18 28906969 28906969 + Splice_Site SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr18:28906969G>A uc002kwp.3 + 3 428 c.216_splice c.e3+1 p.K72_splice NM_001942 NP_001933 Q02413 DSG1_HUMAN Homo sapiens desmoglein 1 (DSG1), mRNA. 72 Cadherin 1. calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) AATCGCCAAAGTAGGTATCAA 0.413000 49 10 0 0 0.010729 0 0 LPO 4025 broad.mit.edu 37 17 56326423 56326423 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr17:56326423C>T uc002ivt.3 + 4 644 c.328C>T c.(328-330)Ccc>Tcc p.P110S LPO_uc010dco.2_Missense_Mutation_p.P110S|LPO_uc010wnr.1_Missense_Mutation_p.P27S|LPO_uc010wns.2_Missense_Mutation_p.P51S|LPO_uc010dcp.3_Missense_Mutation_p.P27S|LPO_uc010dcq.3_5'UTR NM_006151 NP_006142 P22079 PERL_HUMAN Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA. 110 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 TGTTTCAGATCCCAGCCTGGA 0.577000 142 33 0 0 0.004289 0 0 SNAPC4 6621 broad.mit.edu 37 9 139279172 139279172 + Splice_Site SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr9:139279172C>T uc004chh.3 - 13 1429 c.1420_splice c.e13+1 p.G474_splice NM_003086 NP_003077 Q5SXM2 SNPC4_HUMAN Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA. 474 HTH myb-type 3. snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) AGCAACTTACCGACACCATAT 0.353000 19 7 0 0 0.001984 0 0 MMP7 4316 broad.mit.edu 37 11 102401358 102401358 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr11:102401358C>T uc001phb.3 - 0 121 c.74G>A c.(73-75)gGa>gAa p.G25E MMP7_uc009yxd.3_Missense_Mutation_p.G25E|MMP7_uc010rus.1_Missense_Mutation_p.G25E NM_002423 NP_002414 P09237 MMP7_HUMAN Homo sapiens matrix metallopeptidase 7 (matrilysin, uterine) (MMP7), mRNA. 25 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0147) ACTCATGCCTCCCGCCTCCTG 0.547000 33 14 0 0 0.004990 0 0 EPPK1 83481 broad.mit.edu 37 8 144943375 144943375 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr8:144943375C>T uc003zaa.1 - 0 4060 c.4047G>A c.(4045-4047)caG>caA p.Q1349Q NM_031308 NP_112598 P58107 EPIPL_HUMAN Homo sapiens epiplakin 1 (EPPK1), mRNA. 1349 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) AGCCCTCGTTCTGTGGCACGA 0.701000 38 7 0 0 0.001984 0 0 ACE 1636 broad.mit.edu 37 17 61555443 61555443 + Missense_Mutation SNP T C C TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr17:61555443T>C uc002jau.2 + 1 435 c.401T>C c.(400-402)cTg>cCg p.L134P ACE_uc010wph.2_Missense_Mutation_p.L134P|ACE_uc010wpi.2_Missense_Mutation_p.L134P|ACE_uc010ddu.2_5'UTR NM_000789 NP_000780 P12821 ACE_HUMAN Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA. 134 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) AACCTGCCCCTGGCTAAGCGG 0.677000 8 4 0 0 0.000602 0 0 APOB 338 broad.mit.edu 37 2 21235442 21235442 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:21235442G>A uc002red.3 - 25 4426 c.4298C>T c.(4297-4299)tCg>tTg p.S1433L NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 1433 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity p.S1433L(2) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TTTGATATTCGAATCTAGAAA 0.368000 379 112 0 0 0.014410 0 0 GRXCR2 643226 broad.mit.edu 37 5 145246117 145246117 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr5:145246117C>T uc003lns.1 - 1 511 c.511G>A c.(511-513)Gat>Aat p.D171N NM_001080516 NP_001073985 A6NFK2 GRCR2_HUMAN Homo sapiens glutaredoxin, cysteine rich 2 (GRXCR2), mRNA. 171 breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2) 7 AAAGGTCTATCGTGCTGGTCC 0.512000 82 18 0 0 0.007413 0 0 NSL1 25936 broad.mit.edu 37 1 212965138 212965138 + Splice_Site SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr1:212965138G>A uc001hjn.3 - 1 1 c.-33_splice c.e1-1 NSL1_uc001hjm.3_Splice_Site|NSL1_uc010pti.2_Splice_Site|TATDN3_uc001hjo.2_5'Flank|TATDN3_uc010ptj.1_5'Flank|TATDN3_uc010ptk.1_5'Flank|TATDN3_uc001hjp.2_5'Flank|TATDN3_uc010ptl.1_5'Flank NM_015471 NP_056286 Q96IY1 NSL1_HUMAN Homo sapiens NSL1, MIND kinetochore complex component, homolog (S. cerevisiae) (NSL1), transcript variant 1, mRNA. cell division|chromosome segregation|mitotic prometaphase MIS12/MIND type complex|cytosol|nucleus protein binding breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 9 OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102) GGCACTCTGGGAGCGGAAAAG 0.622000 13 4 0 0 0.009096 0 0 ABCB4 5244 broad.mit.edu 37 7 87047888 87047888 + Missense_Mutation SNP T A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr7:87047888T>A uc003uiv.1 - 19 2519 c.2443A>T c.(2443-2445)Aca>Tca p.T815S ABCB4_uc003uiw.1_Missense_Mutation_p.T815S|ABCB4_uc003uix.1_Missense_Mutation_p.T815S NM_018849 NP_061337 P21439 MDR3_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA. 815 ABC transmembrane type-1 2. cellular lipid metabolic process Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) GCAAGTCTTGTAGAAAGTGCA 0.373000 44 18 0 0 0.008871 0 0 OR6F1 343169 broad.mit.edu 37 1 247875287 247875287 + Silent SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr1:247875287G>A uc001idj.1 - 0 771 c.771C>T c.(769-771)ttC>ttT p.F257F NM_001005286 NP_001005286 Q8NGZ6 OR6F1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA. 257 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2) 47 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) GGACGTGAAGGAAAACTGTGG 0.527000 42 17 0 0 0.004007 0 0 UNC5D 137970 broad.mit.edu 37 8 35425736 35425736 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr8:35425736G>A uc003xjr.2 + 2 771 c.443G>A c.(442-444)aGg>aAg p.R148K UNC5D_uc003xjs.2_Missense_Mutation_p.R143K NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA. 148 Ig-like. apoptosis|axon guidance integral to membrane receptor activity p.R143M(1)|p.R148C(1) NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) TCCAAGAGCAGGAAGGCCTCT 0.507000 53 20 0 0 0.010504 0 0 CPAMD8 27151 broad.mit.edu 37 19 17088240 17088240 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr19:17088240C>T uc002nfb.3 - 14 1869 c.1837G>A c.(1837-1839)Gag>Aag p.E613K NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA. 566 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 TCTCCATTCTCCCTGACGTAG 0.592000 50 14 0 0 0.004990 0 0 OR10W1 81341 broad.mit.edu 37 11 58034422 58034422 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr11:58034422C>T uc001nmq.1 - 0 1311 c.909G>A c.(907-909)caG>caA p.Q303Q NM_207374 NP_997257 Q8NGF6 O10W1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily W, member 1 (OR10W1), mRNA. 303 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1) 26 Breast(21;0.0589) CCTAGCTGTTCTGGGAAAGGC 0.478000 56 14 0 0 0.003163 0 0 MYO5B 4645 broad.mit.edu 37 18 47432876 47432876 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr18:47432876C>T uc002leb.2 - 18 2615 c.2327G>A c.(2326-2328)cGg>cAg p.R776Q NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN Homo sapiens myosin VB (MYO5B), mRNA. 776 IQ 1. protein transport myosin complex ATP binding|actin binding|calmodulin binding|motor activity p.R776W(1) NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) CAGCCATCCCCGGACAGTTTT 0.592000 42 7 0 0 0.001984 0 0 COL17A1 1308 broad.mit.edu 37 10 105800156 105800156 + Missense_Mutation SNP G T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr10:105800156G>T uc001kxr.3 - 39 2883 c.2714C>A c.(2713-2715)tCc>tAc p.S905Y NM_000494 NP_000485 Q9UMD9 COHA1_HUMAN Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA. 905 Triple-helical region. S -> F (in Ref. 1; AAA35605 and 2; AAB51499). cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding p.S905F(2) NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) TGGGGGGCCGGAGAGGAAGGT 0.532000 44 23 6.21321e-17 1.71695e-16 0.002780 1 0 EFCAB3 146779 broad.mit.edu 37 17 60484004 60484004 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr17:60484004G>A uc010wpc.2 + 8 879 c.808G>A c.(808-810)Gat>Aat p.D270N EFCAB3_uc002izu.2_Missense_Mutation_p.D218N NM_001144933 NP_001138405 Q8N7B9 EFCB3_HUMAN Homo sapiens EF-hand calcium binding domain 3 (EFCAB3), transcript variant 1, mRNA. 218 calcium ion binding cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3) 17 BRCA - Breast invasive adenocarcinoma(2;2.27e-11) GAAAGAAAAGGATTTATTTAA 0.383000 29 6 0 0 0.001984 0 0 SLC22A25 387601 broad.mit.edu 37 11 62997014 62997014 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr11:62997014C>T uc001nwr.1 - 0 111 c.111G>A c.(109-111)ctG>ctA p.L37L SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript|SLC22A25_uc001nwt.1_Silent_p.L37L NM_199352 NP_955384 Q6T423 S22AP_HUMAN Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA. 37 transmembrane transport integral to membrane NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7) 34 CGAAGTTCTCCAGCTGAGTTT 0.473000 63 14 0 0 0.001855 0 0 RPS6KA6 27330 broad.mit.edu 37 X 83419362 83419362 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chrX:83419362C>T uc004eej.2 - 1 151 c.115G>A c.(115-117)Gaa>Aaa p.E39K RPS6KA6_uc011mqt.2_Missense_Mutation_p.E39K|RPS6KA6_uc011mqu.2_5'UTR NM_014496 NP_055311 Q9UK32 KS6A6_HUMAN Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA. 39 axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 46 TCTCCCTCTTCCATTGGCTCA 0.299000 30 14 0 0 0.004007 0 0 SAMD9 54809 broad.mit.edu 37 7 92733974 92733974 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr7:92733974C>T uc003umf.3 - 2 1707 c.1437G>A c.(1435-1437)acG>acA p.T479T SAMD9_uc003umg.3_Silent_p.T479T|SAMD9_uc022ahg.1_Silent_p.T479T NM_017654 NP_060124 Q5K651 SAMD9_HUMAN Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA. 479 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) GAGTAGAAATCGTCTCATTTG 0.393000 46 30 0 0 0.012213 0 0 TRA2B 6434 broad.mit.edu 37 3 185638958 185638958 + Missense_Mutation SNP C A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr3:185638958C>A uc003fpv.3 - 5 932 c.656G>T c.(655-657)cGg>cTg p.R219L TRA2B_uc003fpt.3_Non-coding_Transcript|TRA2B_uc003fpu.3_Non-coding_Transcript|TRA2B_uc010hym.3_Missense_Mutation_p.R119L NM_004593 NP_001230808 P62995 TRA2B_HUMAN Homo sapiens transformer 2 beta homolog (Drosophila) (TRA2B), transcript variant 1, mRNA. 219 Linker. nuclear mRNA splicing, via spliceosome nucleus RNA binding|nucleotide binding|protein binding p.R219L(2) breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1) 18 ATAGTAATCCCGACGGCGAGA 0.418000 376 8 0.00307968 0.00823206 0.003080 1 0 HAO1 54363 broad.mit.edu 37 20 7895041 7895041 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr20:7895041C>T uc002wmw.1 - 2 339 c.315G>A c.(313-315)atG>atA p.M105I HAO1_uc010gbu.3_Missense_Mutation_p.M105I NM_017545 NP_060015 Q9UJM8 HAOX1_HUMAN Homo sapiens hydroxyacid oxidase (glycolate oxidase) 1 (HAO1), mRNA. 105 FMN hydroxy acid dehydrogenase. cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process peroxisomal matrix FMN binding|glycolate oxidase activity|glyoxylate oxidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 AACTCAACATCATGCCCGTTC 0.517000 28 10 0 0 0.010729 0 0 FRG1B 284802 broad.mit.edu 37 20 29628263 29628263 + Missense_Mutation SNP A G G TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr20:29628263A>G uc010ztl.1 + 2 207 c.175A>G c.(175-177)Att>Gtt p.I59V FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.I11V Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA. p.I89V(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAGCTGCTTTATTAGATGCAA 0.363000 51 7 0 0 0.004482 0 0 RAD51C 5889 broad.mit.edu 37 17 56787259 56787259 + Missense_Mutation SNP C T T rs28363311 TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr17:56787259C>T uc002iwu.3 + 4 787 c.745C>T c.(745-747)Cgt>Tgt p.R249C RAD51C_uc010woa.1_Missense_Mutation_p.R249C|RAD51C_uc010ddc.3_Non-coding_Transcript|RAD51C_uc002iww.3_Non-coding_Transcript NM_058216 NP_478123 O43502 RA51C_HUMAN Homo sapiens RAD51 homolog C (S. cerevisiae) (RAD51C), transcript variant 1, mRNA. 249 R -> C (in dbSNP:rs28363311). DNA repair|blood coagulation mitochondrion|nucleoplasm|perinuclear region of cytoplasm ATP binding|DNA binding|DNA-dependent ATPase activity p.R249C(1) upper_aerodigestive_tract(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) TTTTCCATTTCGTCATGACCT 0.333000 Homologous recombination Hereditary Breast-Ovarian Cancer, non-BRCA1/2 74 48 0 0 0.014410 0 0 FSD1 79187 broad.mit.edu 37 19 4318373 4318373 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr19:4318373C>T uc002lzy.2 + 8 983 c.830C>T c.(829-831)tCc>tTc p.S277F FSD1_uc002maa.2_Missense_Mutation_p.S90F NM_024333 NP_077309 Q9BTV5 FSD1_HUMAN Homo sapiens fibronectin type III and SPRY domain containing 1 (FSD1), mRNA. 277 B30.2/SPRY. cell division|mitosis cleavage furrow|microtubule|microtubule organizing center|nucleus breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18) GCGTCCACATCCCACCAGAAC 0.612000 30 9 0 0 0.006214 0 0 HBE1 3046 broad.mit.edu 37 11 5291094 5291094 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr11:5291094C>T uc001mal.1 - 0 293 c.27G>A c.(25-27)aaG>aaA p.K9K HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Silent_p.K9K NM_005330 NP_005321 P02100 HBE_HUMAN Homo sapiens hemoglobin, epsilon 1 (HBE1), mRNA. 9 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1) 20 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGACGGCAGCCTTCTCCTCAG 0.532000 43 14 0 0 0.004007 0 0 ANKRD20A2 441430 broad.mit.edu 37 2 95515008 95515008 + RNA SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:95515008C>T uc010fhp.3 - 3 c.443G>A Q5SQ80 A20A2_HUMAN Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA. large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 4 CCACCATTTTCTCTTTCTTGC 0.303000 140 29 0 0 0.006230 0 0 C15orf39 56905 broad.mit.edu 37 15 75500361 75500361 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr15:75500361C>T uc002azp.4 + 1 2292 c.1972C>T c.(1972-1974)Cgt>Tgt p.R658C C15orf39_uc002azq.4_Missense_Mutation_p.R658C|C15orf39_uc021sqm.1_Missense_Mutation_p.R417C|C15orf39_uc002azr.4_Missense_Mutation_p.R56C NM_015492 NP_056307 Q6ZRI6 CO039_HUMAN Homo sapiens chromosome 15 open reading frame 39 (C15orf39), mRNA. 658 autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 16 CAAGATCCTCCGTCCGGCACC 0.622000 45 17 0 0 0.006122 0 0 HTR2C 3358 broad.mit.edu 37 X 114141517 114141517 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chrX:114141517G>A uc004epu.1 + 5 1644 c.916G>A c.(916-918)Gaa>Aaa p.E306K HTR2C_uc010nqc.1_Missense_Mutation_p.E306K|HTR2C_uc004epv.1_3'UTR NM_000868 NP_000859 P28335 5HT2C_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2C (HTR2C), mRNA. 306 ERK1 and ERK2 cascade|cGMP biosynthetic process|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) TATCAACAATGAAAGAAAAGC 0.443000 57 31 0 0 0.007291 0 0 TNR 7143 broad.mit.edu 37 1 175334205 175334205 + Missense_Mutation SNP T C C TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr1:175334205T>C uc001gkp.1 - 9 2609 c.2528A>G c.(2527-2529)aAc>aGc p.N843S TNR_uc009wwu.1_Missense_Mutation_p.N843S NM_003285 NP_003276 Q92752 TENR_HUMAN Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA. 843 Fibronectin type-III 6. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) AGCCACAAGGTTCACAATATA 0.567000 63 20 0 0 0.008871 0 0 FCGBP 8857 broad.mit.edu 37 19 40411742 40411742 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr19:40411742C>T uc002omp.4 - 6 3894 c.3886G>A c.(3886-3888)Gag>Aag p.E1296K NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 1296 VWFD 3. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GCCACGTTCTCCTGCAGGACG 0.632000 42 14 0 0 0.004656 0 0 DNAH5 1767 broad.mit.edu 37 5 13792187 13792187 + Silent SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr5:13792187G>A uc003jfd.2 - 49 8406 c.8364C>T c.(8362-8364)ttC>ttT p.F2788F NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 2788 AAA 3 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) ACACATAATGGAATTTTGCAG 0.443000 Kartagener syndrome 22 11 0 0 0.013537 0 0 BMPER 168667 broad.mit.edu 37 7 34091542 34091542 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr7:34091542C>T uc011kap.2 + 8 1120 c.746C>T c.(745-747)tCc>tTc p.S249F NM_133468 NP_597725 Q8N8U9 BMPER_HUMAN Homo sapiens BMP binding endothelial regulator (BMPER), mRNA. 249 VWFC 4. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GACAATGGATCCTCATTTCTG 0.463000 128 51 0 0 0.014410 0 0 LRRC18 474354 broad.mit.edu 37 10 50121815 50121815 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr10:50121815C>T uc001jhd.3 - 0 466 c.386G>A c.(385-387)gGc>gAc p.G129D WDFY4_uc001jha.4_Intron|LRRC18_uc001jhe.1_Missense_Mutation_p.G129D NM_001006939 NP_001006940 Q8N456 LRC18_HUMAN Homo sapiens leucine rich repeat containing 18 (LRRC18), mRNA. 129 cytoplasm NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 GTGGTTCAAGCCTAGGTTCAC 0.602000 10 7 0 0 0.001984 0 0 CCDC63 160762 broad.mit.edu 37 12 111319097 111319097 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr12:111319097G>A uc001trv.1 + 6 1045 c.850G>A c.(850-852)Gaa>Aaa p.E284K CCDC63_uc009zvt.1_3'UTR|CCDC63_uc010sye.1_Missense_Mutation_p.E244K|CCDC63_uc001trw.1_Missense_Mutation_p.E199K NM_152591 NP_689804 Q8NA47 CCD63_HUMAN Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA. 284 p.E284K(2) NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1) 39 CAAAAGGGAGGAAGGTACACC 0.502000 15 3 0 0 0.004672 0 0 APLP1 333 broad.mit.edu 37 19 36365501 36365501 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr19:36365501C>T uc002oce.3 + 8 1290 c.1152C>T c.(1150-1152)atC>atT p.I384I APLP1_uc010xsz.2_Silent_p.I345I|APLP1_uc002ocf.3_Silent_p.I384I|APLP1_uc002ocg.3_Silent_p.I287I|APLP1_uc010xta.2_Silent_p.I378I NM_005166 NP_005157 P51693 APLP1_HUMAN Homo sapiens amyloid beta (A4) precursor-like protein 1 (APLP1), transcript variant 2, mRNA. 384 apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 33 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TCGCCCTTATCAACGACCAGC 0.662000 74 21 0 0 0.004656 0 0 GAD1 2571 broad.mit.edu 37 2 171715347 171715347 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:171715347C>T uc002ugi.3 + 15 1977 c.1555C>T c.(1555-1557)Cca>Tca p.P519S GAD1_uc010fqc.3_Missense_Mutation_p.P138S NM_000817 NP_000808 Q99259 DCE1_HUMAN Homo sapiens glutamate decarboxylase 1 (brain, 67kDa) (GAD1), transcript variant GAD67, mRNA. 519 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2) 35 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) TTGGTATATTCCACAAAGCCT 0.428000 39 9 0 0 0.010729 0 0 SCNN1B 6338 broad.mit.edu 37 16 23364127 23364127 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr16:23364127C>T uc002dln.3 + 2 493 c.317C>T c.(316-318)tCc>tTc p.S106F NM_000336 NP_000327 P51168 SCNNB_HUMAN Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA. 106 excretion|sensory perception of taste apical plasma membrane WW domain binding|ligand-gated sodium channel activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 32 GBM - Glioblastoma multiforme(48;0.0465) Amiloride(DB00594)|Triamterene(DB00384) TCCAGGTATTCCAAAATCAAG 0.498000 36 20 0 0 0.014323 0 0 FAM75D1 389763 broad.mit.edu 37 9 84606832 84606832 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr9:84606832C>T uc004amn.3 + 3 1494 c.1447C>T c.(1447-1449)Cat>Tat p.H483Y NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA. 483 integral to membrane cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 88 GCAGCACATCCATCAGCAGCC 0.453000 40 4 0 0 0.000602 0 0 GTF3C2 2976 broad.mit.edu 37 2 27552143 27552143 + Silent SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:27552143G>A uc002rju.1 - 13 2314 c.1917C>T c.(1915-1917)ttC>ttT p.F639F GTF3C2_uc010eyy.1_Silent_p.F83F|GTF3C2_uc002rjv.1_Silent_p.F628F|GTF3C2_uc002rjw.1_Silent_p.F628F NM_001521 NP_001512 Q8WUA4 TF3C2_HUMAN Homo sapiens general transcription factor IIIC, polypeptide 2, beta 110kDa (GTF3C2), transcript variant 1, mRNA. 628 transcription factor TFIIIC complex central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 38 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CAGAGACAAGGAAATGGCTGT 0.488000 224 83 0 0 0.014410 0 0 CYP3A43 64816 broad.mit.edu 37 7 99436782 99436782 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr7:99436782G>A uc003ury.1 + 2 308 c.205G>A c.(205-207)Gga>Aga p.G69R CYP3A43_uc003urx.1_Missense_Mutation_p.G69R|CYP3A43_uc003urz.1_Missense_Mutation_p.G69R|CYP3A43_uc003usa.1_Non-coding_Transcript|CYP3A43_uc010lgi.1_Silent_p.T109T|CYP3A43_uc003usb.1_5'UTR NM_022820 NP_073731 Q9HB55 CP343_HUMAN Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 43 (CYP3A43), transcript variant 1, mRNA. 69 YGTHSHKLFKKLGIPGPTPLPFLGTILFYLRGLWNFDRECN EKYGEMWGLYEGQQPMLVIMDPD -> LGPIHINFLRSWEF LGQPLCLFWELFCSTLGVFGILTENVMKNTEKCGGCMRGNS PCWSSWIPT (in allele CYP3A43*2). xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Cetirizine(DB00341)|Doxycycline(DB00254) TGAAAAATACGGAGAAATGTG 0.368000 54 14 0 0 0.002450 0 0 ZNF232 7775 broad.mit.edu 37 17 5009481 5009481 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr17:5009481G>A uc002gat.3 - 4 1628 c.973C>T c.(973-975)Cat>Tat p.H325Y ZNF232_uc002gar.1_Missense_Mutation_p.H316Y NM_014519 NP_055334 Q9UNY5 ZN232_HUMAN Homo sapiens zinc finger protein 232 (ZNF232), mRNA. 298 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2) 11 TCTCCAGAATGAACTCTCTGG 0.413000 70 28 0 0 0.006320 0 0 NR2F1 7025 broad.mit.edu 37 5 92923685 92923685 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr5:92923685G>A uc003kkj.3 + 1 2213 c.526G>A c.(526-528)Ggg>Agg p.G176R NR2F1_uc021ybj.1_Missense_Mutation_p.G125R|NR2F1_uc021ybk.1_Missense_Mutation_p.G151R NM_005654 NP_005645 P10589 COT1_HUMAN Homo sapiens nuclear receptor subfamily 2, group F, member 1 (NR2F1), mRNA. 176 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 21 all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18) ACTCACCAACGGGGACCCCCT 0.607000 37 15 0 0 0.002450 0 0 IL7R 3575 broad.mit.edu 37 5 35876087 35876087 + Missense_Mutation SNP T A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr5:35876087T>A uc003jjs.3 + 7 968 c.879T>A c.(877-879)aaT>aaA p.N293K IL7R_uc011cop.2_Non-coding_Transcript NM_002185 NP_002176 P16871 IL7RA_HUMAN Homo sapiens interleukin 7 receptor (IL7R), mRNA. 293 immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity p.K292N(1) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) CTGTGCAGAATTTAAATGTGA 0.413000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 32 4 0 0 0.009096 0 0 THSD7B 80731 broad.mit.edu 37 2 138413086 138413086 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:138413086G>A uc002tva.1 + 20 3871 c.3871G>A c.(3871-3873)Gaa>Aaa p.E1291K THSD7B_uc010zbj.1_Intron NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) AGACTGTGGGGAAGGAGTTCA 0.478000 11 5 0 0 0.001984 0 0 OR13C4 138804 broad.mit.edu 37 9 107289106 107289106 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr9:107289106G>A uc011lvn.2 - 0 385 c.385C>T c.(385-387)Cct>Tct p.P129S NM_001001919 NP_001001919 Q8NGS5 O13C4_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA. 129 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(2)|lung(14)|skin(1) 18 TATCTCAGAGGGTTACAGATG 0.448000 53 18 0 0 0.006122 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107459793 107459793 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:107459793G>A uc002tdq.3 - 1 760 c.641C>T c.(640-642)tCc>tTc p.S214F ST6GAL2_uc002tdr.3_Missense_Mutation_p.S214F|ST6GAL2_uc002tds.3_Missense_Mutation_p.S214F NM_001142351 NP_115917 Q96JF0 SIAT2_HUMAN Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA. 214 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 CAGCATTTTGGAAGAGACGTT 0.637000 23 10 0 0 0.008291 0 0 DOPEY1 23033 broad.mit.edu 37 6 83838630 83838630 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr6:83838630C>T uc011dyy.2 + 15 1977 c.1717C>T c.(1717-1719)Cct>Tct p.P573S DOPEY1_uc003pjs.1_Missense_Mutation_p.P582S|DOPEY1_uc010kbl.1_Missense_Mutation_p.P573S NM_001199942 NP_001186871 Q5JWR5 DOP1_HUMAN Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA. 582 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) TCATGAAAATCCTACTGAAGT 0.358000 29 13 0 0 0.001855 0 0 CYP4F12 66002 broad.mit.edu 37 19 15794562 15794562 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr19:15794562C>T uc002nbl.3 + 6 1026 c.907C>T c.(907-909)Ctg>Ttg p.L303L NM_023944 NP_076433 Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA. NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) TGATGTGCTTCTGCTGAGCAA 0.438000 86 25 0 0 0.006320 0 0 HPR 3250 broad.mit.edu 37 16 72110817 72110817 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr16:72110817G>A uc002fby.3 + 4 914 c.884G>A c.(883-885)gGc>gAc p.G295D TXNL4B_uc010cgl.2_Intron NM_020995 NP_066275 P00739 HPTR_HUMAN Homo sapiens haptoglobin-related protein (HPR), mRNA. 295 Peptidase S1. proteolysis spherical high-density lipoprotein particle hemoglobin binding|serine-type endopeptidase activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2) 20 Ovarian(137;0.125) ACCTGCTATGGCGATGCGGGC 0.557000 38 19 0 0 0.008871 0 0 DBC1 1620 broad.mit.edu 37 9 121929537 121929537 + Missense_Mutation SNP T A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr9:121929537T>A uc004bkc.2 - 7 2567 c.2111A>T c.(2110-2112)aAt>aTt p.N704I NM_014618 NP_055433 O60477 DBC1_HUMAN Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA. 704 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 GGCCAGGCGATTAATTCGGTC 0.557000 61 11 0 0 0.010729 0 0 GABRE 2564 broad.mit.edu 37 X 151124224 151124224 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chrX:151124224G>A uc004ffi.3 - 6 947 c.893C>T c.(892-894)tCc>tTc p.S298F GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc022cgw.1_5'Flank NM_004961 NP_004952 P78334 GBRE_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA. 298 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) GATCCAAAAGGAAACCCAGGA 0.512000 45 24 0 0 0.002780 0 0 DNAH8 1769 broad.mit.edu 37 6 38825334 38825334 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr6:38825334C>T uc021yzh.1 + 41 5883 c.5774C>T c.(5773-5775)tCa>tTa p.S1925L DNAH8_uc003ooe.2_Missense_Mutation_p.S1708L NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 ACACACGATTCAGAAGAGGCT 0.348000 36 8 0 0 0.006214 0 0 PAX9 5083 broad.mit.edu 37 14 37145435 37145436 + Missense_Mutation DNP TG AA AA TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr14:37145435_37145436TG>AA uc001wty.4 + 4 1530_1531 c.804_805TG>AA c.(802-807)tttgtg>ttAAtg p.268_269FV>LM PAX9_uc010amq.3_Non-coding_Transcript NM_006194 NP_006185 P55771 PAX9_HUMAN Homo sapiens paired box 9 (PAX9), mRNA. 268 multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3) 12 Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218) Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189) GBM - Glioblastoma multiforme(112;0.0181) TGGGCAGTTTTGTGTCAGCATC 0.480000 34 23 0 0 0.004672 0 0 FGG 2266 broad.mit.edu 37 4 155530802 155530802 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr4:155530802C>T uc003ioj.3 - 5 787 c.646G>A c.(646-648)Gga>Aga p.G216R FGG_uc003iog.3_Missense_Mutation_p.G216R NM_021870 NP_068656 P02679 FIBG_HUMAN Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA. 216 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) ACAGTCCATCCATTTCCAGAC 0.388000 23 20 0 0 0.003330 0 0 abParts 0 broad.mit.edu 37 14 106926642 106926642 + RNA SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr14:106926642C>T uc021ser.1 - 324 c.11329G>A Parts of antibodies, mostly variable regions. GTCCAAACTCCATGGTGCGTT 0.498000 48 22 0 0 0.003330 0 0 VIL1 7429 broad.mit.edu 37 2 219305465 219305465 + Silent SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:219305465G>A uc002vib.3 + 17 2272 c.2250G>A c.(2248-2250)gtG>gtA p.V750V VIL1_uc010zke.2_Silent_p.V439V|VIL1_uc002via.3_Silent_p.V750V NM_007127 NP_009058 P09327 VILI_HUMAN Homo sapiens villin 1 (VIL1), mRNA. 750 Headpiece. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCCCCAAAGTGGACGTGTTCA 0.542000 52 25 0 0 0.006320 0 0 TRIOBP 11078 broad.mit.edu 37 22 38119627 38119627 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr22:38119627G>A uc003atr.3 + 6 1335 c.1064G>A c.(1063-1065)aGa>aAa p.R355K TRIOBP_uc003atu.3_Missense_Mutation_p.R183K|TRIOBP_uc003atq.1_Missense_Mutation_p.R355K|TRIOBP_uc003ats.1_Missense_Mutation_p.R183K NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA. 355 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GATAACCCCAGAACCTCTTCT 0.582000 82 24 0 0 0.003330 0 0 NKAIN2 154215 broad.mit.edu 37 6 124604234 124604234 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr6:124604234C>T uc003pzo.3 + 1 415 c.138C>T c.(136-138)atC>atT p.I46I NKAIN2_uc003pzn.1_Silent_p.I46I|NKAIN2_uc010keq.3_Silent_p.I46I|NKAIN2_uc003pzp.3_Silent_p.I45I|NKAIN2_uc010ker.3_5'UTR|NKAIN2_uc010kep.1_Non-coding_Transcript NM_001040214 NP_001035304 Q5VXU1 NKAI2_HUMAN Homo sapiens Na+/K+ transporting ATPase interacting 2 (NKAIN2), transcript variant 1, mRNA. 46 integral to membrane|plasma membrane cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2) 19 GBM - Glioblastoma multiforme(226;0.104) ATATTATTATCGTCATTCTTG 0.348000 37 15 0 0 0.003163 0 0 ITGA5 3678 broad.mit.edu 37 12 54799034 54799034 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr12:54799034G>A uc001sga.3 - 11 1209 c.1141C>T c.(1141-1143)Ctt>Ttt p.L381F ITGA5_uc010sow.1_Non-coding_Transcript|ITGA5_uc009znp.1_Non-coding_Transcript NM_002205 NP_002196 P08648 ITA5_HUMAN Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA. 381 angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 34 GTGAGGGTAAGGGTGGGCGTG 0.637000 44 13 0 0 0.002450 0 0 HP 3240 broad.mit.edu 37 16 72094728 72094728 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr16:72094728G>A uc002fbr.4 + 6 1204 c.1160G>A c.(1159-1161)gGt>gAt p.G387D TXNL4B_uc010cgl.2_Intron|HP_uc010cgm.3_Missense_Mutation_p.G328D|HP_uc021tld.1_Missense_Mutation_p.G328D|HP_uc002fbt.4_Missense_Mutation_p.G328D|HPR_uc002fby.3_5'Flank NM_005143 NP_005134 P00738 HPT_HUMAN Homo sapiens haptoglobin (HP), transcript variant 1, mRNA. 387 Peptidase S1. cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide extracellular region|haptoglobin-hemoglobin complex hemoglobin binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1) 7 Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114) BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529) GCTGAGTATGGTGTGTATGTG 0.527000 73 30 0 0 0.007291 0 0 PLEKHG3 26030 broad.mit.edu 37 14 65208364 65208364 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr14:65208364C>T uc001xhp.2 + 15 2531 c.2492C>T c.(2491-2493)tCc>tTc p.S831F PLEKHG3_uc001xhn.1_Missense_Mutation_p.S654F|PLEKHG3_uc001xho.1_Missense_Mutation_p.S710F|PLEKHG3_uc010aqh.1_Missense_Mutation_p.S252F|PLEKHG3_uc001xhq.1_Missense_Mutation_p.S215F NM_015549 NP_056364 A1L390 PKHG3_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 3 (PLEKHG3), mRNA. 710 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2) 29 all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485) TCAGCACTCTCCACCCGAGAC 0.567000 36 21 0 0 0.014323 0 0 MIR518A1 574488 broad.mit.edu 37 19 54234338 54234338 + RNA SNP T G G TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr19:54234338T>G uc021van.1 + 0 c.79T>G Homo sapiens microRNA 518a-1 (MIR518A1), microRNA. TGGATTACGGTTTGAGAAAAA 0.478000 54 13 0 0 0.013537 0 0 MYOM2 9172 broad.mit.edu 37 8 2048769 2048769 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr8:2048769C>T uc003wpx.4 + 19 2682 c.2544C>T c.(2542-2544)ttC>ttT p.F848F MYOM2_uc011kwi.2_Silent_p.F273F NM_003970 NP_003961 P54296 MYOM2_HUMAN Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA. 848 Fibronectin type-III 5. 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) CTGGATATTTCGTGGACTTCA 0.542000 25 9 0 0 0.006214 0 0 CCDC38 120935 broad.mit.edu 37 12 96311023 96311023 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr12:96311023G>A uc001tek.2 - 3 422 c.188C>T c.(187-189)tCa>tTa p.S63L NM_182496 NP_872302 Q502W7 CCD38_HUMAN Homo sapiens coiled-coil domain containing 38 (CCDC38), mRNA. 63 breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 CATTCTGGATGAAAAAGTAGT 0.373000 31 7 0 0 0.003080 0 0 SSFA2 6744 broad.mit.edu 37 2 182780777 182780777 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:182780777C>T uc002uoi.3 + 10 2732 c.2410C>T c.(2410-2412)Cca>Tca p.P804S SSFA2_uc002uoh.3_Missense_Mutation_p.P804S|SSFA2_uc002uoj.3_Missense_Mutation_p.P804S|SSFA2_uc002uok.3_Non-coding_Transcript|SSFA2_uc010zfo.2_Missense_Mutation_p.P651S|SSFA2_uc002uol.3_Missense_Mutation_p.P651S|SSFA2_uc002uom.3_Missense_Mutation_p.P272S NM_001130445 NP_001123917 P28290 SSFA2_HUMAN Homo sapiens sperm specific antigen 2 (SSFA2), transcript variant 1, mRNA. 804 cytoplasm|plasma membrane actin binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 38 OV - Ovarian serous cystadenocarcinoma(117;0.0856) TTTCATCTCTCCATCATCTGT 0.502000 20 7 0 0 0.004482 0 0 NOTCH4 4855 broad.mit.edu 37 6 32163695 32163695 + Missense_Mutation SNP C G G TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr6:32163695C>G uc003obb.3 - 29 5670 c.5531G>C c.(5530-5532)cGg>cCg p.R1844P GPSM3_uc003oaz.3_5'Flank|NOTCH4_uc011dpt.2_3'UTR|NOTCH4_uc003oba.3_Missense_Mutation_p.R504P|NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript NM_004557 NP_004548 Q99466 NOTC4_HUMAN Homo sapiens notch 4 (NOTCH4), mRNA. 1844 Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 TGACACCGTCCGTGCGCGCGG 0.731000 77 25 0 0 0.003330 0 0 TRPC6 7225 broad.mit.edu 37 11 101347111 101347111 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr11:101347111C>T uc001pgk.4 - 5 2090 c.1665G>A c.(1663-1665)caG>caA p.Q555Q TRPC6_uc009ywy.3_Silent_p.Q439Q|TRPC6_uc009ywz.1_Silent_p.Q500Q NM_004621 NP_004612 Q9Y210 TRPC6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA. 555 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) CAATGATGCTCTGGGCTTTGG 0.393000 30 6 0 0 0.001168 0 0 FAM123B 139285 broad.mit.edu 37 X 63410334 63410334 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chrX:63410334G>A uc022byb.1 - 0 2833 c.2833C>T c.(2833-2835)Ccc>Tcc p.P945S FAM123B_uc004dvo.3_Missense_Mutation_p.P945S NM_152424 NP_689637 Q5JTC6 F123B_HUMAN Homo sapiens family with sequence similarity 123B (FAM123B), mRNA. 945 Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane p.0?(67) NS(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(132)|large_intestine(35)|liver(1)|lung(33)|ovary(5)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 225 AGGGAAAGGGGACTGTCTCGG 0.592000 31 11 0 0 0.013537 0 0 CFB 629 broad.mit.edu 37 6 31896656 31896656 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr6:31896656G>A uc003nyf.3 + 2 668 c.404G>A c.(403-405)gGc>gAc p.G135D CFB_uc003nyc.2_Intron|CFB_uc011doo.2_Intron|CFB_uc011dop.2_Intron|CFB_uc003nye.4_Missense_Mutation_p.G135D|CFB_uc010jtk.3_Intron|CFB_uc011doq.2_Missense_Mutation_p.G106D|CFB_uc011dor.2_Intron NM_000063 NP_000054 P00751 CFAB_HUMAN Homo sapiens complement component 2 (C2), transcript variant 1, mRNA. 149 Sushi 2. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 CGCCCCAACGGCATGTGGGAT 0.622000 223 70 0 0 0.014410 0 0 PLCG1 5335 broad.mit.edu 37 20 39792045 39792045 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr20:39792045G>A uc002xjp.1 + 8 938 c.817G>A c.(817-819)Gtg>Atg p.V273M PLCG1_uc002xjo.1_Missense_Mutation_p.V273M|PLCG1_uc010zwe.1_5'Flank|PLCG1_uc010ggf.3_5'Flank NM_182811 NP_877963 P19174 PLCG1_HUMAN Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA. 273 T cell receptor signaling pathway|activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration cytosol|lamellipodium|plasma membrane|ruffle calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2) 46 Myeloproliferative disorder(115;0.00878) TCGCCTCCAGGTGCAGGAGTT 0.582000 48 14 0 0 0.004007 0 0 PRX 57716 broad.mit.edu 37 19 40901099 40901099 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr19:40901099C>T uc002onr.3 - 6 3429 c.3160G>A c.(3160-3162)Ggg>Agg p.G1054R PRX_uc002onq.3_Missense_Mutation_p.G915R|PRX_uc002ons.3_3'UTR NM_181882 NP_870998 Q9BXM0 PRAX_HUMAN Homo sapiens periaxin (PRX), transcript variant 2, mRNA. 1054 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) TTCACCCTCCCATCCCAGCCC 0.612000 23 8 0 0 0.004482 0 0 KRTAP10-1 386677 broad.mit.edu 37 21 45959675 45959675 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr21:45959675G>A uc002zfh.1 - 0 404 c.359C>T c.(358-360)tCa>tTa p.S120L TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron NM_198691 NP_941964 P60331 KR101_HUMAN Homo sapiens keratin associated protein 10-1 (KRTAP10-1), mRNA. 120 24 X 5 AA repeats of C-C-X(3). keratin filament breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1) 11 CTGGCAGCATGAAGAGGAATC 0.622000 41 13 0 0 0.003163 0 0 HSPA5 3309 broad.mit.edu 37 9 128000451 128000451 + Missense_Mutation SNP A T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr9:128000451A>T uc004bpn.3 - 6 1632 c.1371T>A c.(1369-1371)aaT>aaA p.N457K NM_005347 NP_005338 P11021 GRP78_HUMAN Homo sapiens heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) (HSPA5), mRNA. 457 ER-associated protein catabolic process|anti-apoptosis|cellular response to glucose starvation|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum ER-Golgi intermediate compartment|cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1) 23 Antihemophilic Factor(DB00025) CAGTTGGTTGATTATCAGAAG 0.393000 Prostate(1;0.17) 45 13 0 0 0.002450 0 0 QRICH2 84074 broad.mit.edu 37 17 74273322 74273322 + Silent SNP G T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr17:74273322G>T uc002jrd.1 - 15 4869 c.4689C>A c.(4687-4689)acC>acA p.T1563T QRICH2_uc010dgw.1_Silent_p.T407T NM_032134 NP_115510 Q9H0J4 QRIC2_HUMAN Homo sapiens glutamine rich 2 (QRICH2), mRNA. 1563 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4) 62 GGTAGGGGTAGGTGAGGGTGT 0.612000 111 24 4.43304e-23 1.22848e-22 0.006320 1 0 KCNJ1 3758 broad.mit.edu 37 11 128709329 128709329 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr11:128709329C>T uc001qeo.1 - 1 918 c.867G>A c.(865-867)caG>caA p.Q289Q KCNJ1_uc001qep.1_Silent_p.Q270Q|KCNJ1_uc001qeq.1_Silent_p.Q270Q|KCNJ1_uc001qer.1_Silent_p.Q270Q|KCNJ1_uc001qes.1_Silent_p.Q270Q|KCNJ1_uc021qsb.1_Silent_p.Q270Q NM_000220 NP_000211 P48048 IRK1_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 1 (KCNJ1), transcript variant rom-k1, mRNA. 289 excretion voltage-gated potassium channel complex ATP binding|inward rectifier potassium channel activity breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1) 23 all_hematologic(175;0.0641) all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942) Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124) ATTCAAAGTCCTGCTGGAGAA 0.483000 25 7 0 0 0.004482 0 0 IGF2 3481 broad.mit.edu 37 11 2156627 2156627 + Missense_Mutation SNP A G G TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr11:2156627A>G uc009yde.3 - 1 230 c.127T>C c.(127-129)Ttc>Ctc p.F43L IGF2_uc001lvf.3_5'Flank|IGF2_uc001lvg.3_Missense_Mutation_p.F43L|IGF2_uc009ydf.3_Missense_Mutation_p.F99L|IGF2_uc021qcb.1_Missense_Mutation_p.F43L|IGF2_uc001lvh.3_Missense_Mutation_p.F43L|IGF2_uc001lvi.3_Non-coding_Transcript|MIR483_uc021qcc.1_5'Flank|IGF2_uc001lvj.1_Non-coding_Transcript NM_001007139 NP_001007140 P01344 IGF2_HUMAN Homo sapiens insulin-like growth factor 2 (somatomedin A) (IGF2), transcript variant 2, mRNA. 43 B. glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of MAPKKK cascade|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development extracellular space growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1) 6 all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029) BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153) CCACAGACGAACTGGAGGGTG 0.632000 14 6 0 0 0.001168 0 0 AUTS2 26053 broad.mit.edu 37 7 70229864 70229864 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr7:70229864C>T uc003tvw.4 + 7 2076 c.1341C>T c.(1339-1341)acC>acT p.T447T AUTS2_uc003tvx.4_Silent_p.T447T|AUTS2_uc011keg.2_5'Flank NM_015570 NP_056385 Q8WXX7 AUTS2_HUMAN Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA. 447 breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) tcacacccaccctccagcccc 0.652000 11 9 0 0 0.004482 0 0 LARP4B 23185 broad.mit.edu 37 10 890981 890981 + Nonsense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr10:890981G>A uc001ifs.1 - 4 486 c.445C>T c.(445-447)Caa>Taa p.Q149* NM_015155 NP_055970 Q92615 LAR4B_HUMAN Homo sapiens La ribonucleoprotein domain family, member 4B (LARP4B), mRNA. 149 RNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 38 CTGTCTGGTTGAGACTCATTT 0.378000 29 11 0 0 0.010729 0 0 AKAP6 9472 broad.mit.edu 37 14 33291332 33291332 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr14:33291332G>A uc001wrq.3 + 12 4483 c.4313G>A c.(4312-4314)gGa>gAa p.G1438E NM_004274 NP_004265 Q13023 AKAP6_HUMAN Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA. 1438 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) TGTGTAAATGGAAAAGTTGGA 0.368000 17 7 0 0 0.004482 0 0 C7orf58 79974 broad.mit.edu 37 7 120906863 120906863 + Splice_Site SNP G T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr7:120906863G>T uc003vjq.4 + 20 3080 c.2633_splice c.e20+1 p.R878_splice NM_024913 NP_079189 A4D0V7 CG058_HUMAN Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA. 878 endoplasmic reticulum breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 66 all_neural(327;0.117) TTTTGAAGAGGTAAATGTCTG 0.348000 25 19 6.49762e-13 1.7905e-12 0.006122 1 0 RELN 5649 broad.mit.edu 37 7 103292135 103292135 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr7:103292135G>A uc022ajr.1 - 14 2025 c.1865C>T c.(1864-1866)aCt>aTt p.T622I RELN_uc022ajq.1_Missense_Mutation_p.T622I|RELN_uc010liz.3_Missense_Mutation_p.T622I NM_005045 NP_005036 P78509 RELN_HUMAN Homo sapiens reelin (RELN), transcript variant 1, mRNA. 622 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GGAGTAGACAGTGCTGTGGGG 0.463000 44 34 0 0 0.004878 0 0 KRT1 3848 broad.mit.edu 37 12 53072496 53072496 + Nonsense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr12:53072496C>T uc001sau.1 - 1 695 c.636G>A c.(634-636)tgG>tgA p.W212* KRT1_uc001sav.1_Nonsense_Mutation_p.W212* NM_006121 NP_006112 P04264 K2C1_HUMAN Homo sapiens keratin 1 (KRT1), mRNA. 212 Coil 1A.|Rod. complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding p.W212R(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3) 39 GCAGCAGCTCCCATTTTGTTT 0.468000 43 10 0 0 0.008291 0 0 RAPGEF1 2889 broad.mit.edu 37 9 134473699 134473699 + Splice_Site SNP T A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr9:134473699T>A uc022bos.1 - 13 2157 c.1998_splice c.e13-1 p.R666_splice RAPGEF1_uc022bot.1_Splice_Site_p.R648_splice|RAPGEF1_uc010mzm.3_Splice_Site|RAPGEF1_uc022bou.1_Splice_Site_p.R823_splice|RAPGEF1_uc022bov.1_Splice_Site_p.R653_splice|RAPGEF1_uc010mzr.1_Intron|RAPGEF1_uc010mzq.1_Intron|RAPGEF1_uc010mzs.1_Intron|RAPGEF1_uc010mzl.1_Intron|RAPGEF1_uc010mzo.1_Intron|RAPGEF1_uc010mzp.1_Intron NM_198679 NP_941372 Q13905 RPGF1_HUMAN Homo sapiens Rap guanine nucleotide exchange factor (GEF) 1 (RAPGEF1), transcript variant 2, mRNA. 648 activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endosome SH3 domain binding|guanyl-nucleotide exchange factor activity NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 39 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364) TTTGGGGCCCTGCGGGGAGAA 0.602000 14 3 0 0 0.004672 0 0 ZNF676 163223 broad.mit.edu 37 19 22362910 22362910 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr19:22362910C>T uc002nqs.1 - 2 1927 c.1609G>A c.(1609-1611)Gaa>Aaa p.E537K NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN Homo sapiens zinc finger protein 676 (ZNF676), mRNA. 537 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TTGCCACATTCTTCACATTTG 0.418000 43 7 0 0 0.004482 0 0 CNGA2 1260 broad.mit.edu 37 X 150911705 150911705 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chrX:150911705G>A uc004fey.1 + 6 954 c.730G>A c.(730-732)Gag>Aag p.E244K NM_005140 NP_005131 Q16280 CNGA2_HUMAN Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA. 244 response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2) 49 Acute lymphoblastic leukemia(192;6.56e-05) CCACAGCCCTGAGGTGCGCTT 0.532000 57 28 0 0 0.006320 0 0 FAM71B 153745 broad.mit.edu 37 5 156590260 156590260 + Missense_Mutation SNP T C C TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr5:156590260T>C uc003lwn.3 - 1 1116 c.1016A>G c.(1015-1017)gAg>gGg p.E339G NM_130899 NP_570969 Q8TC56 FA71B_HUMAN Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA. 339 nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GCTAATACCCTCTGAGGATAT 0.567000 335 103 0 0 0.014410 0 0 CD2AP 23607 broad.mit.edu 37 6 47576922 47576922 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr6:47576922C>T uc003oyw.3 + 15 2152 c.1696C>T c.(1696-1698)Cca>Tca p.P566S NM_012120 NP_036252 Q9Y5K6 CD2AP_HUMAN Homo sapiens CD2-associated protein (CD2AP), mRNA. 566 cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle SH3 domain binding|structural constituent of cytoskeleton kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 20 Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138) TTTCCTGACTCCATTAGAAAT 0.343000 24 11 0 0 0.010729 0 0 RBFOX1 54715 broad.mit.edu 37 16 7714947 7714947 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr16:7714947G>A uc002cys.2 + 12 1895 c.907G>A c.(907-909)Gga>Aga p.G303R RBFOX1_uc002cyt.2_Missense_Mutation_p.G276R|RBFOX1_uc010uxz.1_Missense_Mutation_p.G346R|RBFOX1_uc010uya.1_Missense_Mutation_p.G260R|RBFOX1_uc010uyb.1_Missense_Mutation_p.G303R|RBFOX1_uc002cyw.2_Intron|RBFOX1_uc002cyy.2_Intron|RBFOX1_uc002cyx.2_Intron|RBFOX1_uc010uyc.1_Intron NM_018723 NP_061193 Q9NWB1 RFOX1_HUMAN Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA. 303 RNA splicing|RNA transport|mRNA processing nucleus|trans-Golgi network RNA binding|nucleotide binding|protein C-terminus binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 TTACCAGGATGGATTTTATGG 0.438000 94 27 0 0 0.009535 0 0 HTR3A 3359 broad.mit.edu 37 11 113860273 113860273 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr11:113860273C>T uc010rxb.2 + 7 1572 c.1339C>T c.(1339-1341)Cgg>Tgg p.R447W HTR3A_uc010rxa.2_Missense_Mutation_p.R415W|HTR3A_uc009yyx.3_Non-coding_Transcript|HTR3A_uc010rxc.2_Missense_Mutation_p.R394W NM_213621 NP_998786 P46098 5HT3A_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA. 409 HA-stretch. digestion|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity p.V447G(1) central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 36 all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191) Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199) CCCACCACCTCGGGAGGCCTC 0.637000 56 24 0 0 0.003330 0 0 HAVCR1 26762 broad.mit.edu 37 5 156469681 156469681 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr5:156469681G>A uc010jij.1 - 5 979 c.794C>T c.(793-795)aCc>aTc p.T265I HAVCR1_uc011ddl.1_Missense_Mutation_p.T96I|HAVCR1_uc003lwi.2_Missense_Mutation_p.T265I|HAVCR1_uc021ygj.1_Missense_Mutation_p.T265I|HAVCR1_uc021ygk.1_Missense_Mutation_p.T96I NM_001099414 NP_036338 Q96D42 HAVR1_HUMAN Homo sapiens hepatitis A virus cellular receptor 1 (HAVCR1), transcript variant 2, mRNA. 260 interspecies interaction between organisms integral to membrane receptor activity p.T265T(1) endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CTCTGTCACGGTGTCATTCCC 0.353000 239 67 0 0 0.014410 0 0 DENND4A 10260 broad.mit.edu 37 15 65968786 65968786 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr15:65968786C>T uc002api.3 - 23 4748 c.4363G>A c.(4363-4365)Gaa>Aaa p.E1455K DENND4A_uc002aph.3_Missense_Mutation_p.E1412K NM_001144823 NP_001138295 Q7Z401 MYCPP_HUMAN Homo sapiens DENN/MADD domain containing 4A (DENND4A), transcript variant 1, mRNA. 1412 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding p.R1454W(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 GACAAACCTTCCAAGGATGCA 0.378000 21 9 0 0 0.006214 0 0 FKBP8 23770 broad.mit.edu 37 19 18648543 18648543 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr19:18648543C>T uc002njk.1 - 5 923 c.810G>A c.(808-810)ttG>ttA p.L270L FKBP8_uc010xqi.1_Silent_p.L299L|FKBP8_uc002njj.1_Silent_p.L271L|FKBP8_uc021uqp.1_Silent_p.L111L NM_012181 NP_036313 Q14318 FKBP8_HUMAN Homo sapiens FK506 binding protein 8, 38kDa (FKBP8), mRNA. 270 apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding integral to endoplasmic reticulum membrane|mitochondrial membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1) 15 ACTTCACCTTCAACTGCAGGA 0.642000 33 10 0 0 0.010729 0 0 ROCK1 6093 broad.mit.edu 37 18 18586524 18586524 + Nonsense_Mutation SNP G T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr18:18586524G>T uc002kte.3 - 15 2614 c.1673C>A c.(1672-1674)tCg>tAg p.S558* NM_005406 NP_005397 Q13464 ROCK1_HUMAN Homo sapiens Rho-associated, coiled-coil containing protein kinase 1 (ROCK1), mRNA. 558 Interaction with FHOD1. Rho protein signal transduction|actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking Golgi membrane|centriole|cytosol ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity p.S558L(1) NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2) 16 Melanoma(1;0.165) AGCTGTGTCCGATTCTGTCCT 0.358000 55 19 3.32936e-07 9.09778e-07 0.006122 1 0 C15orf27 123591 broad.mit.edu 37 15 76452494 76452494 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr15:76452494C>T uc002bbq.3 + 4 596 c.441C>T c.(439-441)tcC>tcT p.S147S C15orf27_uc010bkp.3_5'UTR|C15orf27_uc002bbr.3_5'UTR NM_152335 NP_689548 Q2M3C6 CO027_HUMAN Homo sapiens chromosome 15 open reading frame 27 (C15orf27), mRNA. 147 integral to membrane endometrium(1)|large_intestine(1)|lung(10)|pancreas(1) 13 TCATTCTGTCCGTGTTCTTCT 0.507000 152 49 0 0 0.014410 0 0 ZC4H2 55906 broad.mit.edu 37 X 64141834 64141834 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chrX:64141834G>A uc004dvu.3 - 1 244 c.88C>T c.(88-90)Cgt>Tgt p.R30C ZC4H2_uc004dvv.3_Missense_Mutation_p.R7C|ZC4H2_uc022byd.1_Missense_Mutation_p.R7C|ZC4H2_uc022byc.1_Missense_Mutation_p.R7C|ZC4H2_uc011mow.2_Missense_Mutation_p.R30C|ZC4H2_uc011mov.2_Missense_Mutation_p.R7C|ZC4H2_uc004dvw.2_Missense_Mutation_p.R30C NM_018684 NP_001230733 Q9NQZ6 ZC4H2_HUMAN Homo sapiens zinc finger, C4H2 domain containing (ZC4H2), transcript variant 1, mRNA. 30 metal ion binding|protein binding endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 GCCTTCAAACGAGCCTTGATC 0.483000 34 13 0 0 0.002450 0 0 TTN 7273 broad.mit.edu 37 2 179396030 179396030 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:179396030C>T uc021vsy.1 - 306 97833 c.97608G>A c.(97606-97608)atG>atA p.M32536I MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.M26231I|TTN_uc021vta.1_Missense_Mutation_p.M26164I|TTN_uc021vtb.1_Missense_Mutation_p.M26039I|TTN_uc002umq.3_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 33463 Ig-like 143. 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) CAGCACTTTTCATTTCTGCAG 0.438000 89 31 0 0 0.007291 0 0 OR10H3 26532 broad.mit.edu 37 19 15852388 15852388 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr19:15852388C>T uc010xoq.2 + 0 186 c.186C>T c.(184-186)ctC>ctT p.L62L NM_013938 NP_039226 O60404 O10H3_HUMAN Homo sapiens olfactory receptor, family 10, subfamily H, member 3 (OR10H3), mRNA. 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 CCATGTACCTCTTCTTGTGTG 0.507000 184 45 0 0 0.014410 0 0 EPB41L4B 54566 broad.mit.edu 37 9 111979209 111979209 + Silent SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr9:111979209G>A uc004bdz.1 - 15 1921 c.1626C>T c.(1624-1626)tcC>tcT p.S542S NM_019114 NP_061987 Q9H329 E41LB_HUMAN Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA. 542 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CACTTGTAAGGGACTTGCTGC 0.567000 94 24 0 0 0.005443 0 0 MOK 5891 broad.mit.edu 37 14 102718264 102718264 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr14:102718264G>A uc001ylm.3 - 4 578 c.352C>T c.(352-354)Cat>Tat p.H118Y MOK_uc010txv.2_Missense_Mutation_p.H88Y|MOK_uc001yln.3_5'UTR NM_014226 NP_055041 Q9UQ07 MOK_HUMAN Homo sapiens MOK protein kinase (MOK), mRNA. 118 Protein kinase. signal transduction Golgi apparatus ATP binding|cyclin-dependent protein kinase activity|protein binding CTGTGAATATGATCCAGGGAC 0.323000 25 10 0 0 0.010729 0 0 MDGA1 266727 broad.mit.edu 37 6 37631827 37631827 + Missense_Mutation SNP G T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr6:37631827G>T uc003onu.1 - 1 1302 c.123C>A c.(121-123)gaC>gaA p.D41E NM_153487 NP_705691 Q8NFP4 MDGA1_HUMAN Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 1 (MDGA1), mRNA. 41 Ig-like 1. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 38 CGCTGATATTGTCCTCTTTCA 0.612000 77 21 1.50039e-11 4.12292e-11 0.012319 1 0 TSIX 9383 broad.mit.edu 37 X 73044503 73044503 + RNA SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chrX:73044503C>T uc004ebn.2 + 0 c.32464C>T XIST_uc004ebm.1_Non-coding_Transcript Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA. TCAAATTTTTCATTTACAAGT 0.333000 14 8 0 0 0.003080 0 0 RECK 8434 broad.mit.edu 37 9 36083538 36083538 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr9:36083538C>T uc003zyv.3 + 7 702 c.616C>T c.(616-618)Cca>Tca p.P206S RECK_uc003zyu.4_Missense_Mutation_p.P206S|RECK_uc003zyw.3_Missense_Mutation_p.P78S|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. 206 5 X Knot repeats. 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) TCAATCTTATCCAATGAGGAA 0.348000 14 6 0 0 0.001984 0 0 ZKSCAN3 80317 broad.mit.edu 37 6 28333993 28333993 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr6:28333993C>T uc010jrc.3 + 6 1881 c.1548C>T c.(1546-1548)ggC>ggT p.G516G ZKSCAN3_uc003nle.4_Silent_p.G516G|ZKSCAN3_uc003nlf.4_Silent_p.G368G NM_001242894 NP_001229823 Q9BRR0 ZKSC3_HUMAN Homo sapiens zinc finger with KRAB and SCAN domains 3 (ZKSCAN3), transcript variant 1, mRNA. 516 positive regulation of transcription, DNA-dependent|viral reproduction nucleus DNA binding|chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1) 21 GTGGAAAAGGCTTCACCCGAA 0.433000 39 16 0 0 0.003163 0 0 WDR59 79726 broad.mit.edu 37 16 74927577 74927577 + Splice_Site SNP A C C TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr16:74927577A>C uc002fdh.1 - 19 2102 c.2000_splice c.e19+1 p.I667_splice WDR59_uc002fdf.1_Splice_Site_p.I112_splice|WDR59_uc002fdg.1_Splice_Site_p.I259_splice NM_030581 NP_085058 Q6PJI9 WDR59_HUMAN Homo sapiens WD repeat domain 59 (WDR59), mRNA. 667 breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1) 27 TTGTACTTACATGTACAGCTC 0.423000 20 9 0 0 0.008291 0 0 CCDC144A 9720 broad.mit.edu 37 17 16664987 16664987 + Silent SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr17:16664987G>A uc002gqk.1 + 12 3697 c.3621G>A c.(3619-3621)agG>agA p.R1207R CCDC144A_uc002gql.1_Silent_p.R723R|CCDC144A_uc010cpj.1_Non-coding_Transcript NM_014695 NP_055510 A2RUR9 C144A_HUMAN Homo sapiens coiled-coil domain containing 144A (CCDC144A), mRNA. 1207 AAAGAGCAAGGAAGGAGATAG 0.328000 47 7 0 0 0.004482 0 0 FBXO24 26261 broad.mit.edu 37 7 100189321 100189321 + Silent SNP A T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr7:100189321A>T uc011kjz.1 + 3 536 c.468A>T c.(466-468)ggA>ggT p.G156G FBXO24_uc010lha.1_Non-coding_Transcript|FBXO24_uc003uvl.1_Silent_p.G104G|FBXO24_uc003uvm.1_Silent_p.G118G|FBXO24_uc003uvn.1_5'UTR|LOC100129845_uc011kjy.2_Intron|FBXO24_uc011kka.1_Silent_p.G106G NM_012172 NP_036304 O75426 FBX24_HUMAN Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA. 118 ubiquitin ligase complex ubiquitin-protein ligase activity NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2) 28 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) AGGCATTTGGAGGCCGCCGCC 0.577000 67 26 0 0 0.006320 0 0 SYMPK 8189 broad.mit.edu 37 19 46355638 46355638 + Silent SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr19:46355638G>A uc002pdn.3 - 4 476 c.231C>T c.(229-231)atC>atT p.I77I SYMPK_uc002pdo.1_Silent_p.I77I|SYMPK_uc002pdp.1_Silent_p.I77I|SYMPK_uc002pdq.2_Silent_p.I77I NM_004819 NP_004810 Q92797 SYMPK_HUMAN Homo sapiens symplekin (SYMPK), mRNA. 77 Interaction with HSF1. cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1) 45 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) GGAATGCGATGATCTCCTGCC 0.527000 60 28 0 0 0.005443 0 0 HFM1 164045 broad.mit.edu 37 1 91816303 91816303 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr1:91816303G>A uc001doa.4 - 17 2297 c.2198C>T c.(2197-2199)tCt>tTt p.S733F HFM1_uc009wdb.3_Intron|HFM1_uc010osu.2_Missense_Mutation_p.S412F|HFM1_uc010osv.1_Missense_Mutation_p.S417F NM_001017975 NP_001017975 A2PYH4 HFM1_HUMAN Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA. 733 ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) ACCATAATGAGATGGATTTTT 0.348000 20 9 0 0 0.004482 0 0 NDST4 64579 broad.mit.edu 37 4 115858653 115858653 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr4:115858653C>T uc003ibu.3 - 4 1907 c.1228G>A c.(1228-1230)Gga>Aga p.G410R NDST4_uc010imw.3_Non-coding_Transcript NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA. 410 Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) ATTGGTATTCCATGTTCCTAA 0.433000 18 6 0 0 0.001168 0 0 MYOCD 93649 broad.mit.edu 37 17 12626201 12626201 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr17:12626201G>A uc002gno.2 + 4 590 c.291G>A c.(289-291)atG>atA p.M97I MYOCD_uc002gnn.2_Missense_Mutation_p.M97I|MYOCD_uc002gnp.1_Missense_Mutation_p.M1I NM_001146312 NP_001139784 Q8IZQ8 MYCD_HUMAN Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA. 97 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) CTGCTCAGATGAAGCTGAAAA 0.443000 98 25 0 0 0.005443 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140228284 140228284 + Silent SNP C T T rs71588635 TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr5:140228284C>T uc003lhu.2 + 0 928 c.204C>T c.(202-204)tcC>tcT p.S68S 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_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lht.1_Silent_p.S68S NM_031857 NP_114063 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA. 81 Cadherin 1. 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) AGTTGGATTCCAAAGGCCGCG 0.637000 89 26 0 0 0.004656 0 0 FBXW5 54461 broad.mit.edu 37 9 139835775 139835775 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr9:139835775G>A uc004cjx.3 - 7 1569 c.1385C>T c.(1384-1386)gCg>gTg p.A462V FBXW5_uc010nbx.3_Non-coding_Transcript|FBXW5_uc004cjy.3_Missense_Mutation_p.A210V|FBXW5_uc004cjz.3_Missense_Mutation_p.A192V NM_018998 NP_061871 Q969U6 FBXW5_HUMAN Homo sapiens F-box and WD repeat domain containing 5 (FBXW5), mRNA. 462 catalytic activity|protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 12 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.19) OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106) GGCGCGGTGCGCACGCAGAGC 0.672000 22 7 0 0 0.003080 0 0 PCF11 51585 broad.mit.edu 37 11 82880555 82880555 + Missense_Mutation SNP G T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr11:82880555G>T uc001ozx.4 + 7 3523 c.3178G>T c.(3178-3180)Ggt>Tgt p.G1060C PCF11_uc010rsu.1_Missense_Mutation_p.G1191C NM_015885 NP_056969 O94913 PCF11_HUMAN Homo sapiens PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae) (PCF11), mRNA. 1060 Gly-rich. mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1) 33 TGGTCAGCCAGGTCCTAGATT 0.507000 32 11 0.000978159 0.00263619 0.010729 1 0 GJA8 2703 broad.mit.edu 37 1 147380868 147380868 + Missense_Mutation SNP A C C TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr1:147380868A>C uc021ovm.1 + 0 786 c.786A>C c.(784-786)aaA>aaC p.K262N GJA8_uc001epu.2_Missense_Mutation_p.K262N NM_005267 NP_005258 P48165 CXA8_HUMAN Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA. 262 cell communication|visual perception connexon complex|integral to plasma membrane channel activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1) 37 all_hematologic(923;0.0276) CCATCCAGAAAGCCAAGGGCT 0.557000 42 7 0 0 0.001984 0 0 OR10G2 26534 broad.mit.edu 37 14 22102844 22102844 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr14:22102844G>A uc010tmc.2 - 0 155 c.155C>T c.(154-156)aCc>aTc p.T52I NM_001005466 NP_001005466 Q8NGC3 O10G2_HUMAN Homo sapiens olfactory receptor, family 10, subfamily G, member 2 (OR10G2), mRNA. 52 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2) 22 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0142) AGCCCACATGGTGAGCAGAAT 0.542000 25 15 0 0 0.002450 0 0 ISL1 3670 broad.mit.edu 37 5 50685521 50685521 + Missense_Mutation SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr5:50685521G>A uc003jor.3 + 3 1068 c.520G>A c.(520-522)Gtc>Atc p.V174I NM_002202 NP_002193 P61371 ISL1_HUMAN Homo sapiens ISL LIM homeobox 1 (ISL1), mRNA. 174 generation of precursor metabolites and energy|multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 Lung NSC(810;0.000845)|Breast(144;0.0411) GCGGCCCCACGTCCACAAGCA 0.721000 19 9 0 0 0.008291 0 0 ZBED4 9889 broad.mit.edu 37 22 50277928 50277928 + Missense_Mutation SNP C G G TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr22:50277928C>G uc003bix.2 + 1 1088 c.618C>G c.(616-618)atC>atG p.I206M ZBED4_uc021wrx.1_Missense_Mutation_p.I206M NM_014838 NP_055653 O75132 ZBED4_HUMAN Homo sapiens zinc finger, BED-type containing 4 (ZBED4), mRNA. 206 cytoplasm|nucleus DNA binding|metal ion binding|protein dimerization activity breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) TCTCACCCATCAAACTTGTCC 0.547000 28 12 0 0 0.001855 0 0 OR52E6 390078 broad.mit.edu 37 11 5862975 5862975 + Silent SNP G A A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr11:5862975G>A uc010qzq.2 - 0 153 c.153C>T c.(151-153)atC>atT p.I51I TRIM5_uc001mbq.1_Intron NM_001005167 NP_001005167 Q96RD3 O52E6_HUMAN Homo sapiens olfactory receptor, family 52, subfamily E, member 6 (OR52E6), mRNA. 51 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A50D(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCTCAGTTTGGATCACAAAGA 0.478000 47 16 0 0 0.006122 0 0 TGM6 343641 broad.mit.edu 37 20 2380983 2380983 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr20:2380983C>T uc002wfy.1 + 6 943 c.882C>T c.(880-882)gtC>gtT p.V294V TGM6_uc010gal.1_Silent_p.V294V NM_198994 NP_945345 O95932 TGM3L_HUMAN Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA. 294 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity p.V294V(2)|p.R293R(1) breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4) 52 L-Glutamine(DB00130) CCACACGGGTCGTGTCCAACT 0.617000 36 21 0 0 0.012319 0 0 SCN1A 6323 broad.mit.edu 37 2 166848050 166848050 + Missense_Mutation SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:166848050C>T uc002udo.4 - 27 5962 c.5735G>A c.(5734-5736)cGa>cAa p.R1912Q SCN1A_uc010fpk.3_Missense_Mutation_p.R1884Q|SCN1A_uc021vsb.1_Missense_Mutation_p.R1901Q NM_001202435 NP_001189364 P35498 SCN1A_HUMAN Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA. 1912 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) CTCTTGTTTTCGTTTTAAAGT 0.413000 47 12 0 0 0.013537 0 0 MRGPRD 116512 broad.mit.edu 37 11 68748441 68748441 + Silent SNP C T T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr11:68748441C>T uc010rqf.2 - 0 15 c.15G>A c.(13-15)ttG>ttA p.L5L NM_198923 NP_944605 Q8TDS7 MRGRD_HUMAN Homo sapiens MAS-related GPR, member D (MRGPRD), mRNA. 5 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2) 22 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) CACTGCTATTCAAAGTCTGGT 0.562000 42 12 0 0 0.002450 0 0 RAB11FIP5 26056 broad.mit.edu 37 2 73316089 73316092 + Frame_Shift_Del DEL GCTG - - TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:73316089_73316092delGCTG uc002siu.4 - 1 1024_1027 c.783_786delCAGC c.(781-786)gccagcfs p.A261fs RAB11FIP5_uc002sit.4_Frame_Shift_Del_p.A183fs NM_015470 NP_056285 Q9BXF6 RFIP5_HUMAN Homo sapiens RAB11 family interacting protein 5 (class I) (RAB11FIP5), mRNA. 261 protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 23 CCAAGCTCCCGCTGGCTGAGGACA 0.647 --- 37 --- --- 8 --- SLC35F5 80255 broad.mit.edu 37 2 114500277 114500277 + Frame_Shift_Del DEL A - - TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:114500277delA uc002tku.1 - 6 1156 c.742delT c.(742-744)tgcfs p.C248fs SLC35F5_uc002tkt.3_Non-coding_Transcript|SLC35F5_uc002tkv.3_Frame_Shift_Del_p.C242fs NM_025181 NP_079457 Q8WV83 S35F5_HUMAN Homo sapiens solute carrier family 35, member F5 (SLC35F5), mRNA. 248 transport integral to membrane p.C248fs*22(4)|p.?(1) endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1) 20 ACCACAAAGCAAAAAAAAAAG 0.343 --- 87 --- --- 8 --- ABCA1 19 broad.mit.edu 37 9 107602665 107602666 + Frame_Shift_Ins INS - C C rs2246841 byFrequency TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr9:107602665_107602666insC uc004bcl.3 - 8 1352_1353 c.948_949insG c.(946-951)gggctgfs p.G316fs NM_005502 NP_005493 O95477 ABCA1_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 1 (ABCA1), mRNA. 316 Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle ATP binding|ATPase activity|anion transmembrane transporter activity|apolipoprotein A-I receptor activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TTGATCTTCAGCCCCCCTCCCT 0.515 --- 37 --- --- 8 --- TFAM 7019 broad.mit.edu 37 10 60148570 60148570 + Frame_Shift_Del DEL A - - rs78912196 TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr10:60148570delA uc001jkf.3 + 3 564 c.432delA c.(430-432)acafs p.T144fs TFAM_uc001jkg.3_Non-coding_Transcript NM_003201 NP_003192 Q00059 TFAM_HUMAN Homo sapiens transcription factor A, mitochondrial (TFAM), nuclear gene encoding mitochondrial protein, mRNA. 144 DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter mitochondrial nucleoid mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity p.M143I(1) kidney(1)|large_intestine(1)|lung(4)|prostate(1) 7 AAGCTATGACAAAAAAAAAAG 0.269 --- 65 --- --- 8 --- POLA2 23649 broad.mit.edu 37 11 65057338 65057340 + In_Frame_Del DEL AAG - - TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr11:65057338_65057340delAAG uc001odj.3 + 12 1571_1573 c.1239_1241delAAG c.(1237-1242)acaaga>aca p.R414del POLA2_uc010rod.1_In_Frame_Del_p.R206del|POLA2_uc001odk.3_In_Frame_Del_p.R111del NM_002689 NP_002680 Q14181 DPOA2_HUMAN Homo sapiens polymerase (DNA directed), alpha 2 (70kD subunit) (POLA2), mRNA. 414 DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication nucleoplasm DNA binding endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1) 11 Dacarbazine(DB00851) TTGAAGGCACAAGAAGGTCAGAT 0.404 --- 7 --- --- 5 --- CLEC16A 23274 broad.mit.edu 37 16 11272268 11272269 + Frame_Shift_Del DEL CT - - TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr16:11272268_11272269delCT uc021tcy.1 + 23 3113_3114 c.2883_2884delCT c.(2881-2886)gactctfs p.D961fs CLEC16A_uc002dao.3_Frame_Shift_Del_p.D959fs|CLEC16A_uc002dap.3_Frame_Shift_Del_p.D48fs NM_015226 NP_056041 Q2KHT3 CL16A_HUMAN Homo sapiens C-type lectin domain family 16, member A (CLEC16A), transcript variant 1, mRNA. 961 p.0?(1) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 CGGAAGCAGACTCTAAGCCCAG 0.604 --- 56 --- --- 29 --- CASC3 22794 broad.mit.edu 37 17 38324121 38324121 + Frame_Shift_Del DEL T - - TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr17:38324121delT uc010cwt.1 + 9 1965 c.1670delT c.(1669-1671)atcfs p.I557fs CASC3_uc002hue.3_Frame_Shift_Del_p.I557fs NM_007359 NP_031385 O15234 CASC3_HUMAN Homo sapiens cancer susceptibility candidate 3 (CASC3), mRNA. 557 Necessary for localization in cytoplasmic stress granules. RNA splicing|mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm RNA binding|identical protein binding|ubiquitin protein ligase binding endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2) 16 CAGGGACCAATCTATACCCAT 0.517 --- 132 --- --- 27 ---