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 SLC20A2 6575 broad.mit.edu 37 8 42294860 42294860 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:42294860G>A uc003xpe.3 - 7 1539 c.1170C>T c.(1168-1170)acC>acT p.T390T SLC20A2_uc010lxl.3_Silent_p.T390T|SLC20A2_uc010lxm.3_Silent_p.T390T|SLC20A2_uc011lcu.2_Silent_p.T192T NM_006749 NP_006740 Q08357 S20A2_HUMAN Homo sapiens solute carrier family 20 (phosphate transporter), member 2 (SLC20A2), mRNA. 390 interspecies interaction between organisms integral to plasma membrane|membrane fraction inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1) 26 all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211) all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869) AAATGGCTGCGGTGTAGCAGG 0.607000 62 44 0 0 0.00285205 0 0 COL8A1 1295 broad.mit.edu 37 3 99513711 99513711 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:99513711G>A uc003dti.1 + 2 1097 c.969G>A c.(967-969)ggG>ggA p.G323G MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Silent_p.G322G|COL8A1_uc003dth.1_Silent_p.G322G NM_020351 NP_065084 P27658 CO8A1_HUMAN Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA. 322 Triple-helical region (COL1). angiogenesis|cell adhesion basement membrane|collagen type VIII breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1) 27 GCCAGGATGGGATCCCAGGCC 0.632000 23 9 0 0 0.000274275 0 0 RNF43 54894 broad.mit.edu 37 17 56435718 56435718 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr17:56435718G>A uc002iwf.3 - 7 3375 c.1419C>T c.(1417-1419)ggC>ggT p.G473G RNF43_uc010wnv.2_Silent_p.G432G|RNF43_uc002iwh.4_Silent_p.G473G|RNF43_uc002iwg.4_Silent_p.G473G|RNF43_uc010dcw.3_Silent_p.G346G NM_017763 NP_060233 Q68DV7 RNF43_HUMAN Homo sapiens ring finger protein 43 (RNF43), mRNA. 473 Ser-rich. endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4) 60 Medulloblastoma(34;0.127)|all_neural(34;0.237) CACTGGAAGAGCCATGACAGG 0.572000 19 48 0 0 0.000781405 0 0 PLXND1 23129 broad.mit.edu 37 3 129276010 129276010 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:129276010G>A uc003emx.2 - 33 5602 c.5502C>T c.(5500-5502)atC>atT p.I1834I PLXND1_uc003emw.2_5'UTR|PLXND1_uc011blb.1_Silent_p.I503I NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN Homo sapiens plexin D1 (PLXND1), mRNA. 1834 axon guidance integral to membrane|intracellular|plasma membrane PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 AGCGCTGCACGATCTTCCGGT 0.587000 38 13 0 0 0.00244969 0 0 LRRN4 164312 broad.mit.edu 37 20 6022124 6022124 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr20:6022124C>T uc002wmo.2 - 4 1991 c.1767G>A c.(1765-1767)acG>acA p.T589T NM_152611 NP_689824 Q8WUT4 LRRN4_HUMAN Homo sapiens leucine rich repeat neuronal 4 (LRRN4), mRNA. 589 Fibronectin type-III. integral to membrane breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 27 CCGTGGTCTCCGTCACCCCCT 0.711000 32 20 0 0 0.00121646 0 0 KNTC1 9735 broad.mit.edu 37 12 123089491 123089491 + Missense_Mutation SNP C G G TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:123089491C>G uc001ucv.3 + 49 5406 c.5243C>G c.(5242-5244)aCa>aGa p.T1748R KNTC1_uc010taf.2_Intron NM_014708 NP_055523 P50748 KNTC1_HUMAN Homo sapiens kinetochore associated 1 (KNTC1), mRNA. 1748 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 72 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) CGATCGGGCACAGAAGCTGTG 0.433000 3 8 0 0 0.000157383 0 0 SEMA4A 64218 broad.mit.edu 37 1 156130705 156130705 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:156130705C>T uc001fnl.3 + 7 874 c.695C>T c.(694-696)tCc>tTc p.S232F SEMA4A_uc009wrq.3_Missense_Mutation_p.S232F|SEMA4A_uc001fnm.3_Missense_Mutation_p.S232F|SEMA4A_uc001fnn.3_Missense_Mutation_p.S100F|SEMA4A_uc001fno.3_Missense_Mutation_p.S232F NM_001193301 NP_071762 Q9H3S1 SEM4A_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A (SEMA4A), transcript variant 3, mRNA. 232 Sema. axon guidance integral to membrane|plasma membrane receptor activity breast(1)|ovary(2)|skin(2) 5 Hepatocellular(266;0.158) GATGACGCCTCCTTTGTGGCA 0.602000 52 42 0 0 0.00195071 0 0 EGF 1950 broad.mit.edu 37 4 110925678 110925678 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr4:110925678C>T uc003hzy.4 + 21 3643 c.3191C>T c.(3190-3192)tCg>tTg p.S1064L EGF_uc011cfu.2_Missense_Mutation_p.S1022L|EGF_uc011cfv.2_Missense_Mutation_p.S1023L|EGF_uc010imk.3_Missense_Mutation_p.S212L NM_001963 NP_001954 P01133 EGF_HUMAN Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA. 1064 DNA replication|angiogenesis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) AAGCTGCTATCGAAAAACCCA 0.468000 81 50 0 0 0.000781405 0 0 LRP1B 53353 broad.mit.edu 37 2 141264470 141264470 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:141264470C>T uc002tvj.1 - 52 9388 c.8416G>A c.(8416-8418)Gat>Aat p.D2806N NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 2806 LDL-receptor class A 18. 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) GCATTTTCATCACATGTATTA 0.378000 TSP Lung(27;0.18) 55 21 0 0 0.00047179 0 0 HS3ST3B1 9953 broad.mit.edu 37 17 14205243 14205243 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr17:14205243G>A uc002goh.1 + 0 738 c.408G>A c.(406-408)caG>caA p.Q136Q MGC12916_uc010vvv.2_5'Flank NM_006041 NP_006032 Q9Y662 HS3SB_HUMAN Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1 (HS3ST3B1), mRNA. 136 heparan sulfate proteoglycan biosynthetic process, enzymatic modification Golgi membrane|integral to plasma membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity large_intestine(3)|lung(3)|skin(1) 7 UCEC - Uterine corpus endometrioid carcinoma (92;0.0887) GGAGCAAGCAGCTGCCGCAGG 0.697000 6 4 0 0 0.00024832 0 0 COL5A2 1290 broad.mit.edu 37 2 189927735 189927735 + Splice_Site SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:189927735C>T uc002uqk.3 - 28 2198 c.1923_splice c.e28+1 p.R641_splice COL5A2_uc010frx.3_Splice_Site_p.R217_splice NM_000393 NP_000384 P05997 CO5A2_HUMAN Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA. 641 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) TGTATATTTACCCTCTGCCCA 0.368000 67 37 0 0 0.00128727 0 0 ECT2 1894 broad.mit.edu 37 3 172473144 172473144 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:172473144G>A uc003fii.2 + 2 328 c.190G>A c.(190-192)Gaa>Aaa p.E64K ECT2_uc010hwv.1_Missense_Mutation_p.E64K|ECT2_uc003fih.2_Missense_Mutation_p.E63K|ECT2_uc003fij.1_Missense_Mutation_p.E64K|ECT2_uc003fik.1_Missense_Mutation_p.E64K|ECT2_uc003fil.1_Missense_Mutation_p.E64K NM_018098 NP_060568 Q9H8V3 ECT2_HUMAN Homo sapiens epithelial cell transforming sequence 2 oncogene (ECT2), mRNA. 64 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14) AAAACAAGAAGAACTTATAAA 0.294000 32 21 0 0 0.00229938 0 0 FAM5B 57795 broad.mit.edu 37 1 177250635 177250635 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:177250635G>A uc001glf.3 + 7 2635 c.2323G>A c.(2323-2325)Gaa>Aaa p.E775K FAM5B_uc001glg.3_Missense_Mutation_p.E670K NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA. 775 extracellular region breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 AAACCCTGTGGAATATGAGAC 0.542000 58 39 0 0 0.000680045 0 0 HERC1 8925 broad.mit.edu 37 15 63955388 63955388 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr15:63955388G>A uc002amp.3 - 43 8844 c.8696C>T c.(8695-8697)tCt>tTt p.S2899F NM_003922 NP_003913 Q15751 HERC1_HUMAN Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA. 2899 protein modification process|transport Golgi apparatus|cytosol|membrane ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 GGCCTGCACAGAGCGGTATAA 0.393000 105 56 0 0 0.000781405 0 0 LYST 1130 broad.mit.edu 37 1 235969602 235969602 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:235969602G>A uc001hxj.2 - 5 3009 c.2834C>T c.(2833-2835)tCt>tTt p.S945F LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Missense_Mutation_p.S945F NM_000081 NP_000072 Q99698 LYST_HUMAN Homo sapiens lysosomal trafficking regulator (LYST), mRNA. 945 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) GCTCTCGAGAGATATACATGG 0.483000 60 46 0 0 0.000781405 0 0 abParts 0 broad.mit.edu 37 14 107183569 107183569 + RNA SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr14:107183569C>T uc021ser.1 - 29 c.2009G>A Parts of antibodies, mostly variable regions. ACTCCAGCCCCTTCCCGGGAG 0.532000 39 4 0 0 0.000602214 0 0 LUZP1 7798 broad.mit.edu 37 1 23418816 23418816 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:23418816G>A uc001bgk.2 - 3 2489 c.1939C>T c.(1939-1941)Cga>Tga p.R647* LUZP1_uc010odv.1_Nonsense_Mutation_p.R647*|LUZP1_uc001bgl.3_Nonsense_Mutation_p.R647*|LUZP1_uc001bgm.1_Nonsense_Mutation_p.R647* NM_033631 NP_361013 Q86V48 LUZP1_HUMAN Homo sapiens leucine zipper protein 1 (LUZP1), transcript variant 1, mRNA. 647 nucleus NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2) 31 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199) TTGATGACTCGACACCTCAAG 0.463000 94 77 0 0 0.000781405 0 0 PRODH2 58510 broad.mit.edu 37 19 36303435 36303435 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:36303435G>A uc002obx.1 - 2 444 c.426C>T c.(424-426)ctC>ctT p.L142L NM_021232 NP_067055 Q9UF12 PROD2_HUMAN Homo sapiens proline dehydrogenase (oxidase) 2 (PRODH2), mRNA. 142 glutamate biosynthetic process|proline catabolic process proline dehydrogenase activity haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GGGAGCCCAGGAGTCGCCGAG 0.647000 11 15 0 0 0.000422831 0 0 HERC2 8924 broad.mit.edu 37 15 28408299 28408300 + Missense_Mutation DNP CC TT TT TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr15:28408299_28408300CC>TT uc001zbj.3 - 68 10792_10793 c.10686_10687GG>AA c.(10684-10689)ggggac>ggAAac p.D3563N NM_004667 NP_004658 O95714 HERC2_HUMAN Homo sapiens hect domain and RLD 2 (HERC2), mRNA. 3563 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CTGCCCCTGTCCCCGGCCCGGC 0.644000 41 17 0 0 6.4e-05 0 0 PTPRT 11122 broad.mit.edu 37 20 40980844 40980844 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr20:40980844C>T uc002xkg.3 - 9 1826 c.1642G>A c.(1642-1644)Gaa>Aaa p.E548K PTPRT_uc010ggj.3_Missense_Mutation_p.E548K NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 548 Fibronectin type-III 3. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TGGTGGGTTTCATTCCGGAGC 0.572000 58 32 0 0 0.00283554 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142479932 142479932 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:142479932G>A uc011ksq.2 + 1 147 c.64G>A c.(64-66)Gac>Aac p.D22N TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_Non-coding_Transcript Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA. TGATGATGATGACAAGATCGT 0.552000 134 12 0 0 0.000308642 0 0 TRPM7 54822 broad.mit.edu 37 15 50925153 50925153 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr15:50925153G>A uc001zyt.4 - 8 1326 c.1044C>T c.(1042-1044)tcC>tcT p.S348S TRPM7_uc010bew.2_Silent_p.S348S NM_017672 NP_060142 Q96QT4 TRPM7_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 7 (TRPM7), mRNA. 348 cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3) 52 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) TTTTGATAGTGGAAATAATAT 0.343000 43 21 0 0 0.00152264 0 0 DGKG 1608 broad.mit.edu 37 3 185997672 185997672 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:185997672G>A uc003fqa.3 - 8 1297 c.760C>T c.(760-762)Cca>Tca p.P254S DGKG_uc003fqb.3_Missense_Mutation_p.P254S|DGKG_uc003fqc.3_Missense_Mutation_p.P254S|DGKG_uc011brx.2_Missense_Mutation_p.P254S NM_001346 NP_001337 P49619 DGKG_HUMAN Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA. 254 EF-hand 2. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 42 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) ACCAGCAATGGGATGGTGGTC 0.498000 40 32 0 0 0.001512 0 0 APCS 325 broad.mit.edu 37 1 159558342 159558342 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:159558342G>A uc001ftv.3 + 1 612 c.516G>A c.(514-516)gaG>gaA p.E172E NM_001639 NP_001630 P02743 SAMP_HUMAN Homo sapiens amyloid P component, serum (APCS), mRNA. 172 Pentaxin. acute-phase response|chaperone-mediated protein complex assembly|protein folding extracellular space metal ion binding|sugar binding|unfolded protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2) 20 all_hematologic(112;0.0429) TTGTGGGAGAGATTGGGGATT 0.532000 24 22 0 0 0.00229938 0 0 HYAL1 3373 broad.mit.edu 37 3 50339712 50339712 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:50339712G>A uc003czp.3 - 1 808 c.676C>T c.(676-678)Cgt>Tgt p.R226C HYAL3_uc003cze.2_5'Flank|HYAL3_uc003czf.2_5'Flank|HYAL3_uc003czd.2_5'Flank|HYAL3_uc003czg.2_5'Flank|HYAL3_uc021wyo.1_5'Flank|HYAL3_uc003czk.4_5'Flank|HYAL3_uc003czj.3_5'Flank|HYAL1_uc003czm.3_Missense_Mutation_p.R44C|HYAL1_uc003czo.3_Intron|HYAL1_uc003czq.3_Missense_Mutation_p.R226C|HYAL1_uc003czr.3_Missense_Mutation_p.R226C|HYAL1_uc003czn.3_Intron|HYAL1_uc003czs.3_Missense_Mutation_p.R226C|HYAL1_uc003czt.3_Missense_Mutation_p.R226C NM_033159 NP_695015 Q12794 HYAL1_HUMAN Homo sapiens hyaluronoglucosaminidase 1 (HYAL1), transcript variant 7, mRNA. 226 extracellular space|lysosome hyalurononglucosaminidase activity cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) Hyaluronidase(DB00070) TTTTGGGCACGGATGCCTGAT 0.602000 6 10 0 0 0.00136819 0 0 LOXL2 4017 broad.mit.edu 37 8 23155621 23155621 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:23155621C>T uc003xdh.1 - 13 2599 c.2260G>A c.(2260-2262)Gaa>Aaa p.E754K LOXL2_uc010lty.1_Silent_p.A255A NM_002318 NP_002309 Q9Y4K0 LOXL2_HUMAN Homo sapiens lysyl oxidase-like 2 (LOXL2), mRNA. 754 aging|cell adhesion|protein modification process extracellular space|membrane copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(55;0.0453)|Breast(100;0.143) Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096) TCCGTCTCTTCGCTGAAGGAA 0.557000 17 19 0 0 0.00152264 0 0 LILRA1 11024 broad.mit.edu 37 19 55107841 55107841 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:55107841C>T uc002qgh.1 + 6 1328 c.1146C>T c.(1144-1146)ttC>ttT p.F382F LILRA1_uc010yfg.1_Silent_p.F380F|LILRA1_uc010yfh.2_Silent_p.F382F NM_006863 NP_006854 O75019 LIRA1_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA. 382 Ig-like C2-type 4. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity p.E381K(1) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) AGGCTGAATTCCCTATGAGTC 0.587000 74 35 0 0 0.00128727 0 0 EVPL 2125 broad.mit.edu 37 17 74003217 74003217 + Silent SNP G A A rs144079186 TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr17:74003217G>A uc010wss.1 - 21 6363 c.6135C>T c.(6133-6135)tcC>tcT p.S2045S EVPL_uc002jqi.2_Silent_p.S2023S|EVPL_uc010wst.1_Silent_p.S1493S NM_001988 NP_001979 Q92817 EVPL_HUMAN Homo sapiens envoplakin (EVPL), mRNA. 2023 keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 TGGGGGAGGCGGAGCGGTAGC 0.682000 26 10 0 0 0.000442599 0 0 OR2L8 391190 broad.mit.edu 37 1 248112734 248112734 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:248112734G>A uc001idt.1 + 0 575 c.575G>A c.(574-576)tGg>tAg p.W192* OR2L13_uc001ids.3_Intron NM_001001963 NP_001001963 Q8NGY9 OR2L8_HUMAN Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA. 192 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3) 42 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) ATGGACACCTGGGTCTATGAG 0.468000 18 8 0 0 0.00185496 0 0 ENPEP 2028 broad.mit.edu 37 4 111397573 111397573 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr4:111397573G>A uc003iab.4 + 0 345 c.3G>A c.(1-3)atG>atA p.M1I NM_001977 NP_001968 Q07075 AMPE_HUMAN Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA. 1 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) AAGCAAAAATGAACTTTGCGG 0.408000 71 39 0 0 0.00222228 0 0 EIF4E 1977 broad.mit.edu 37 4 99806186 99806186 + Silent SNP A G G TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr4:99806186A>G uc003hue.2 - 5 1949 c.426T>C c.(424-426)ttT>ttC p.F142F EIF4E_uc011cea.1_Silent_p.F162F|EIF4E_uc011ceb.1_Silent_p.F173F NM_001968 NP_001959 P06730 IF4E_HUMAN Homo sapiens eukaryotic translation initiation factor 4E (EIF4E), transcript variant 1, mRNA. 142 G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex RNA cap binding|protein binding|translation initiation factor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1) 13 OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227) TGTAGTCATCAAAAGATTCTC 0.338000 14 12 0 0 0.00136819 0 0 DMRTB1 63948 broad.mit.edu 37 1 53927154 53927154 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:53927154C>T uc001cvq.1 + 1 641 c.586C>T c.(586-588)Ctg>Ttg p.L196L NM_033067 NP_149056 Q96MA1 DMRTB_HUMAN Homo sapiens DMRT-like family B with proline-rich C-terminal, 1 (DMRTB1), mRNA. 196 Pro-rich. sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(3)|lung(5)|ovary(1)|skin(1) 10 AGTGCGCCCTCTGAACATCAA 0.662000 39 22 0 0 0.00127121 0 0 SACS 26278 broad.mit.edu 37 13 23909874 23909874 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr13:23909874G>A uc001uon.2 - 9 8730 c.8141C>T c.(8140-8142)tCg>tTg p.S2714L SACS_uc001uoo.2_Missense_Mutation_p.S2567L|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA. 2714 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding p.N2713K(1) NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TGGAACAGACGAAATTTCCGA 0.388000 56 25 0 0 0.000586117 0 0 UBASH3B 84959 broad.mit.edu 37 11 122647762 122647762 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:122647762G>A uc001pyi.4 + 2 606 c.246G>A c.(244-246)ctG>ctA p.L82L NM_032873 NP_116262 Q8TF42 UBS3B_HUMAN Homo sapiens ubiquitin associated and SH3 domain containing B (UBASH3B), mRNA. 82 cytoplasm|nucleus protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2) 26 Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104) BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463) ACCCCTTCCTGGATGACCCCC 0.547000 10 15 0 0 0.000958276 0 0 PRAME 23532 broad.mit.edu 37 22 22890990 22890990 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr22:22890990G>A uc002zwf.3 - 4 1185 c.1029C>T c.(1027-1029)tcC>tcT p.S343S abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|PRAME_uc011air.2_Silent_p.S327S|PRAME_uc010gtr.3_Silent_p.S343S|PRAME_uc002zwg.3_Silent_p.S343S|PRAME_uc002zwh.3_Silent_p.S343S|PRAME_uc002zwi.3_Silent_p.S343S|PRAME_uc002zwj.3_Silent_p.S343S|PRAME_uc002zwk.3_Silent_p.S343S NM_206956 NP_996839 P78395 PRAME_HUMAN Homo sapiens preferentially expressed antigen in melanoma (PRAME), transcript variant 5, mRNA. 343 apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent nucleus|plasma membrane retinoic acid receptor binding autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05) READ - Rectum adenocarcinoma(21;0.0649) TGGGACTCTGGGACAGATGCA 0.537000 82 48 0 0 0.000781405 0 0 CASC1 55259 broad.mit.edu 37 12 25311484 25311484 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:25311484C>T uc001rgk.3 - 3 202 c.120G>A c.(118-120)ttG>ttA p.L40L CASC1_uc001rgj.3_5'UTR|CASC1_uc001rgm.4_Silent_p.L98L|CASC1_uc001rgl.3_Silent_p.L34L|CASC1_uc010sje.2_Intron|CASC1_uc010sjf.2_Intron|CASC1_uc010sjg.1_Silent_p.L34L|CASC1_uc010sjh.1_Non-coding_Transcript NM_018272 NP_060742 Q6TDU7 CASC1_HUMAN Homo sapiens cancer susceptibility candidate 1 (CASC1), transcript variant 1, mRNA. 34 Glu-rich. p.L40S(1) breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11) OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13) TCTCATATTTCAAACGGGCTT 0.294000 48 32 0 0 0.00209593 0 0 OR51G2 81282 broad.mit.edu 37 11 4936071 4936071 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:4936071G>A uc001lzr.1 - 0 823 c.823C>T c.(823-825)Cac>Tac p.H275Y NM_001005238 NP_001005238 Q8NGK0 O51G2_HUMAN Homo sapiens olfactory receptor, family 51, subfamily G, member 2 (OR51G2), mRNA. 275 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) TGGACCAGGTGGGGTGCCTGC 0.512000 38 26 0 0 0.000878237 0 0 ARAP2 116984 broad.mit.edu 37 4 36230649 36230649 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr4:36230649G>A uc003gsq.2 - 1 798 c.460C>T c.(460-462)Ccc>Tcc p.P154S ARAP2_uc003gsr.1_Missense_Mutation_p.P154S NM_015230 NP_056045 Q8WZ64 ARAP2_HUMAN Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA. 154 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 TCTGCAGTGGGGAAGTCGCGT 0.388000 38 23 0 0 0.00278032 0 0 TRIM22 10346 broad.mit.edu 37 11 5719671 5719671 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:5719671C>T uc001mbr.3 + 3 1025 c.646C>T c.(646-648)Ctg>Ttg p.L216L TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Silent_p.L184L|TRIM22_uc010qzm.2_Silent_p.L44L|TRIM22_uc009yes.3_Silent_p.L212L NM_006074 NP_006065 Q8IYM9 TRI22_HUMAN Homo sapiens tripartite motif containing 22 (TRIM22), transcript variant 1, mRNA. 216 immune response|interspecies interaction between organisms|protein trimerization|response to virus Cajal body|Golgi apparatus|nuclear speck ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2) 23 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14) GCTGGATAACCTGGCAGCAGC 0.527000 29 18 0 0 0.000566183 0 0 DCHS2 54798 broad.mit.edu 37 4 155278420 155278420 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr4:155278420C>T uc003inw.2 - 5 751 c.751G>A c.(751-753)Gaa>Aaa p.E251K DCHS2_uc003inx.2_Intron NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA. 251 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.K250K(1)|p.K250N(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) ttcattacttccttgtctgct 0.438000 73 45 0 0 0.000680045 0 0 ZNFX1 57169 broad.mit.edu 37 20 47881325 47881325 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr20:47881325G>A uc002xui.3 - 4 2326 c.2079C>T c.(2077-2079)acC>acT p.T693T NM_021035 NP_066363 Q9P2E3 ZNFX1_HUMAN Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA. 693 metal ion binding cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 60 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GCTCCCTTAGGGTGAACTGCT 0.542000 65 35 0 0 0.00058488 0 0 ZNF735 730291 broad.mit.edu 37 7 63680401 63680402 + Missense_Mutation DNP CT TC TC rs10258764 by1000genomes TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:63680401_63680402CT>TC uc011kdn.2 + 3 972_973 c.972_973CT>TC c.(970-975)ccctac>ccTCac p.Y325H NM_001159524 NP_001152996 P0CB33 ZN735_HUMAN Homo sapiens zinc finger protein 735 (ZNF735), mRNA. 325 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding GAGAGAAACCCTACACATGTGA 0.421000 13 9 0 0 6.4e-05 0 0 RPS2 6187 broad.mit.edu 37 16 2012137 2012137 + Missense_Mutation SNP C T T rs142405634 by1000genomes TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr16:2012137C>T uc002cnn.2 - 5 1032 c.844G>A c.(844-846)Gtg>Atg p.V282M TCRBV20S1_uc021tak.1_Intron|RPS2_uc002cnm.2_Non-coding_Transcript|RPS2_uc002cno.2_Missense_Mutation_p.V282M|SNHG9_uc002cnr.3_5'Flank NM_002952 NP_002943 P15880 RS2_HUMAN Homo sapiens ribosomal protein S2 (RPS2), mRNA. 282 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleoplasm RNA binding|fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|structural constituent of ribosome endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2) 7 GTCCGCTGCACGGAGACTCTG 0.498000 23 15 0 0 0.000566183 0 0 NOTCH2 4853 broad.mit.edu 37 1 120506229 120506229 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:120506229C>T uc001eik.3 - 10 2180 c.1883G>A c.(1882-1884)gGc>gAc p.G628D NOTCH2_uc001eil.3_Missense_Mutation_p.G628D|NOTCH2_uc021osy.1_Missense_Mutation_p.G589D|NOTCH2_uc001eim.4_Missense_Mutation_p.G545D NM_024408 NP_077719 Q04721 NOTC2_HUMAN Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA. 628 EGF-like 16; calcium-binding (Potential). Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) GCACTGGTAGCCATTGACCAG 0.502000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 192 100 0 0 0.000781405 0 0 FKBP15 23307 broad.mit.edu 37 9 115947059 115947059 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr9:115947059G>A uc004bgs.2 - 15 1677 c.1524C>T c.(1522-1524)ctC>ctT p.L508L FKBP15_uc010muu.1_Silent_p.L572L|FKBP15_uc004bgr.2_5'Flank|FKBP15_uc011lxc.1_Silent_p.L89L|FKBP15_uc011lxd.1_Silent_p.L440L|FKBP15_uc010mut.1_Silent_p.L376L NM_015258 NP_056073 Q5T1M5 FKB15_HUMAN Homo sapiens FK506 binding protein 15, 133kDa (FKBP15), mRNA. 508 endocytosis|protein folding axon|early endosome actin binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1) 26 CTTCAGTCATGAGAAATGAAG 0.413000 4 6 0 0 0.00198382 0 0 ODZ4 26011 broad.mit.edu 37 11 78423616 78423616 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:78423616G>A uc001ozl.4 - 25 4428 c.3965C>T c.(3964-3966)gCg>gTg p.A1322V NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA. 1322 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 ACCTGTCCCCGCAACCACCTC 0.577000 64 45 0 0 0.000781405 0 0 ATP13A4 84239 broad.mit.edu 37 3 193207525 193207525 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:193207525G>A uc003ftd.3 - 6 840 c.732C>T c.(730-732)ctC>ctT p.L244L ATP13A4_uc003fte.1_Silent_p.L244L|ATP13A4_uc011bsr.1_5'UTR NM_032279 NP_115655 Q4VNC1 AT134_HUMAN Homo sapiens ATPase type 13A4 (ATP13A4), mRNA. 244 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) TCACCTCTCTGAGATCATATA 0.313000 117 66 0 0 0.000781405 0 0 UBQLN3 50613 broad.mit.edu 37 11 5529171 5529171 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:5529171G>A uc021qcw.1 - 0 1618 c.1618C>T c.(1618-1620)Cgc>Tgc p.R540C HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Missense_Mutation_p.R540C NM_017481 NP_059509 Q9H347 UBQL3_HUMAN Homo sapiens ubiquilin 3 (UBQLN3), mRNA. 540 NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGTAGGAGGCGAGGTGCTTCA 0.577000 26 12 0 0 0.00136819 0 0 OR2F1 26211 broad.mit.edu 37 7 143657954 143657954 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:143657954G>A uc003wds.1 + 0 935 c.891G>A c.(889-891)gtG>gtA p.V297V NM_012369 NP_036501 Q13607 OR2F1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA. 297 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4) 34 Melanoma(164;0.0903) ATAAAGAGGTGAAGGGGGCCT 0.433000 31 18 0 0 0.00152264 0 0 THPO 7066 broad.mit.edu 37 3 184091239 184091239 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:184091239G>A uc003fol.1 - 4 575 c.360C>T c.(358-360)ctC>ctT p.L120L THPO_uc003fom.2_Silent_p.L120L|THPO_uc021xii.1_Silent_p.L120L|THPO_uc003fon.3_Silent_p.L120L|THPO_uc011bro.2_Silent_p.L120L|THPO_uc003fop.3_Silent_p.L120L|THPO_uc011brp.2_Silent_p.L120L|THPO_uc011brq.2_Silent_p.L120L|THPO_uc003for.1_Non-coding_Transcript|THPO_uc003fos.1_Non-coding_Transcript|THPO_uc003fot.1_Silent_p.L120L|THPO_uc003fou.1_Silent_p.L120L NM_000460 NP_000451 P40225 TPO_HUMAN Homo sapiens thrombopoietin (THPO), transcript variant 1, mRNA. 120 cell proliferation|platelet activation extracellular space cytokine activity|growth factor activity|hormone activity NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CCCCAAGGAGGAGACGGACCT 0.587000 32 7 0 0 0.000274275 0 0 GRM7 2917 broad.mit.edu 37 3 7620951 7620951 + Missense_Mutation SNP A C C TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:7620951A>C uc003bqm.2 + 7 2632 c.2358A>C c.(2356-2358)gaA>gaC p.E786D GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.E786D|GRM7_uc003bql.2_Missense_Mutation_p.E786D|GRM7_uc003bqn.1_Missense_Mutation_p.E369D|GRM7_uc010hch.1_Missense_Mutation_p.E297D NM_000844 NP_000835 Q14831 GRM7_HUMAN Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA. 786 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) ATTTTAACGAAGCCAAGCCCA 0.433000 24 4 0 0 0.000602214 0 0 LDHC 3948 broad.mit.edu 37 11 18460142 18460142 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:18460142G>A uc001mon.4 + 5 772 c.660G>A c.(658-660)acG>acA p.T220T LDHC_uc001mom.4_Silent_p.T220T|LDHC_uc009yhp.3_Silent_p.T220T|LDHC_uc001moo.4_Silent_p.T104T|LDHC_uc009yhq.3_Non-coding_Transcript|LDHC_uc009yhr.3_Intron NM_017448 NP_059144 P07864 LDHC_HUMAN Homo sapiens lactate dehydrogenase C (LDHC), transcript variant 2, mRNA. 220 glycolysis cytoplasm L-lactate dehydrogenase activity|binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 NADH(DB00157) AATTAGGAACGGATTCAGATA 0.358000 26 11 0 0 0.000673444 0 0 TATDN2 9797 broad.mit.edu 37 3 10312400 10312400 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:10312400C>T uc011atr.2 + 3 2115 c.1534C>T c.(1534-1536)Caa>Taa p.Q512* TATDN2_uc003bvg.2_Nonsense_Mutation_p.Q512*|TATDN2_uc003bvf.3_Nonsense_Mutation_p.Q512*|TATDN2_uc011ats.1_Non-coding_Transcript|TATDN2_uc011att.1_Non-coding_Transcript NM_014760 NP_055575 Q93075 TATD2_HUMAN Homo sapiens TatD DNase domain containing 2 (TATDN2), mRNA. 512 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2) 28 GCTATCTTTCCAAGGGACCTT 0.498000 11 32 0 0 0.000692331 0 0 FLG 2312 broad.mit.edu 37 1 152282477 152282477 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:152282477C>T uc001ezu.1 - 2 4921 c.4885G>A c.(4885-4887)Ggc>Agc p.G1629S NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 1629 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTCCTGGAGCCATGTCTTGAC 0.552000 Ichthyosis 102 49 0 0 0.000781405 0 0 CDH18 1016 broad.mit.edu 37 5 19591191 19591191 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr5:19591191C>T uc003jgd.3 - 6 1508 c.974G>A c.(973-975)aGa>aAa p.R325K CDH18_uc011cnm.2_Missense_Mutation_p.R325K|CDH18_uc003jgc.3_Missense_Mutation_p.R325K|CDH18_uc021xwu.1_Missense_Mutation_p.R325K NM_004934 NP_004925 Q13634 CAD18_HUMAN Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA. 325 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) GATTCCTTCTCTGGTCTCTTT 0.403000 43 29 0 0 0.00178596 0 0 SGCZ 137868 broad.mit.edu 37 8 14412253 14412253 + Missense_Mutation SNP C T T rs77000161 TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:14412253C>T uc003wwq.3 - 1 882 c.222G>A c.(220-222)atG>atA p.M74I SGCZ_uc010lss.3_Missense_Mutation_p.M61I NM_139167 NP_631906 Q96LD1 SGCZ_HUMAN Homo sapiens sarcoglycan, zeta (SGCZ), mRNA. 61 cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 47 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) CAGTGAAATTCATAACTTTCA 0.328000 48 16 0 0 0.000308642 0 0 MERTK 10461 broad.mit.edu 37 2 112755015 112755015 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:112755015C>T uc002thk.1 + 9 1688 c.1566C>T c.(1564-1566)tcC>tcT p.S522S MERTK_uc002thl.1_Silent_p.S346S NM_006343 NP_006334 Q12866 MERTK_HUMAN Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA. 522 cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 TATACATCTCCTTGGCCATCA 0.448000 41 19 0 0 0.00074312 0 0 CACNG6 59285 broad.mit.edu 37 19 54515287 54515287 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:54515287G>A uc002qct.3 + 3 1217 c.627G>A c.(625-627)ccG>ccA p.P209P CACNG6_uc002qcu.3_Silent_p.P163P|CACNG6_uc002qcv.3_Silent_p.P138P NM_145814 NP_665813 Q9BXT2 CCG6_HUMAN Homo sapiens calcium channel, voltage-dependent, gamma subunit 6 (CACNG6), transcript variant 1, mRNA. 209 voltage-gated calcium channel complex voltage-gated calcium channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.168) AGCCTCCCCCGGCCCCACGCC 0.692000 26 18 0 0 0.00229938 0 0 MGC70870 403340 broad.mit.edu 37 GL000205.1 117785 117785 + RNA SNP C A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chrGL000205.1:117785C>A uc002kgk.4 + 0 c.1163C>A Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA. AAGGCCTTTGCAGGATGGGAT 0.567000 41 6 0.000157383 0.000627968 0.000157383 1 0 PTPRU 10076 broad.mit.edu 37 1 29581881 29581881 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:29581881C>T uc001bru.3 + 1 297 c.168C>T c.(166-168)atC>atT p.I56I PTPRU_uc009vtq.3_Silent_p.I56I|PTPRU_uc009vtr.3_Silent_p.I56I|PTPRU_uc001brw.3_Silent_p.I56I NM_005704 NP_005695 Q92729 PTPRU_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA. 56 MAM. canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 79 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) AAGTGCGAATCCACCCTGGCA 0.612000 38 19 0 0 0.00152264 0 0 DIDO1 11083 broad.mit.edu 37 20 61511288 61511288 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr20:61511288G>A uc002ydr.2 - 15 6332 c.6020C>T c.(6019-6021)tCg>tTg p.S2007L DIDO1_uc002yds.2_Missense_Mutation_p.S2007L NM_001193369 NP_149072 Q9BTC0 DIDO1_HUMAN Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA. 2007 Pro-rich. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) GTGAAATCGCGAAGGGGTCTG 0.632000 67 36 0 0 0.000953801 0 0 ADCY1 107 broad.mit.edu 37 7 45717629 45717629 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:45717629C>T uc003tne.4 + 8 1785 c.1767C>T c.(1765-1767)acC>acT p.T589T NM_021116 NP_066939 Q08828 ADCY1_HUMAN Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA. 589 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) ACTTCTTTACCCTGAAGTACA 0.567000 39 17 0 0 0.000566183 0 0 UBE4A 9354 broad.mit.edu 37 11 118255590 118255590 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:118255590C>T uc001psw.3 + 14 2477 c.2342C>T c.(2341-2343)cCc>cTc p.P781L UBE4A_uc001psv.3_Missense_Mutation_p.P788L NM_001204077 NP_001191006 Q14139 UBE4A_HUMAN Homo sapiens ubiquitination factor E4A (UBE4A), transcript variant 2, mRNA. 781 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 56 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) GCCATGAATCCCCCACTTTTC 0.368000 37 63 0 0 0.000781405 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110453035 110453035 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:110453035G>A uc003yne.3 + 32 4157 c.4053G>A c.(4051-4053)agG>agA p.R1351R NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 1351 IPT/TIG 7. immune response cytosol|extracellular space|integral to membrane receptor activity p.T1351T(1) NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TCACCATAAGGGGTTTTGGAT 0.378000 HNSCC(38;0.096) 121 61 0 0 0.000781405 0 0 KMO 8564 broad.mit.edu 37 1 241752099 241752099 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:241752099G>A uc009xgp.3 + 11 1376 c.1065G>A c.(1063-1065)gcG>gcA p.A355A KMO_uc001hyy.3_Silent_p.A395A|KMO_uc009xgo.2_Silent_p.A395A NM_003679 NP_003670 O15229 KMO_HUMAN Homo sapiens kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) (KMO), mRNA. 355 pyridine nucleotide biosynthetic process|response to salt stress cytosol|integral to membrane|mitochondrial outer membrane NAD(P)H oxidase activity|electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity p.A355A(6)|p.A355G(1) NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2) 33 Ovarian(103;0.103)|all_lung(81;0.23) OV - Ovarian serous cystadenocarcinoma(106;0.0176) ATGATCACGCGATTTCAGACC 0.363000 57 19 0 0 0.00152264 0 0 PKP2 5318 broad.mit.edu 37 12 32996156 32996156 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:32996156C>T uc001rlj.4 - 5 1585 c.1470G>A c.(1468-1470)cgG>cgA p.R490R PKP2_uc001rlk.4_Intron|PKP2_uc010skj.2_Intron NM_004572 NP_004563 Q99959 PKP2_HUMAN Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA. 490 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) acctcgtgatccgcccgcctt 0.547000 14 10 0 0 0.000442599 0 0 PKD2 5311 broad.mit.edu 37 4 88996693 88996693 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr4:88996693C>T uc003hre.3 + 14 2841 c.2754C>T c.(2752-2754)tcC>tcT p.S918S PKD2_uc011cdf.2_Silent_p.S336S|PKD2_uc011cdg.2_Silent_p.S244S|PKD2_uc011cdh.2_Silent_p.S141S NM_000297 NP_000288 Q13563 PKD2_HUMAN Homo sapiens polycystic kidney disease 2 (autosomal dominant) (PKD2), mRNA. 918 C-terminal coiled coil domain. basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221) OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237) GCTGGGAATCCGATGATGCAG 0.512000 62 37 0 0 0.000814825 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971017 21971017 + Missense_Mutation SNP G A A rs121913386 TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr9:21971017G>A uc003zpk.3 - 1 647 c.341C>T c.(340-342)cCc>cTc p.P114L MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Missense_Mutation_p.P114L|CDKN2A_uc003zpl.3_Silent_p.A128A NM_000077 NP_000068 P42771 CD2A1_HUMAN Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA. 114 P -> L (in non-small cell lung carcinoma).|P -> S (found in some patients with melanoma; loss of CDK4 binding). 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.P114L(59)|p.?(44)|p.P114H(6)|p.H83fs*2(2)|p.P114S(2)|p.L113M(1)|p.V115fs*11(1)|p.0(1)|p.L113L(1)|p.A68fs*3(1)|p.L113P(1)|p.A169A(1)|p.P114P(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) CAGGTCCACGGGCAGACGGCC 0.731000 P114L(SKMEL30_SKIN)|P114L(WM983B_SKIN) 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 24 36 0 0 0.00170553 0 0 ZCCHC16 340595 broad.mit.edu 37 X 111697979 111697979 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chrX:111697979C>T uc022cct.1 + 0 23 c.23C>T c.(22-24)tCa>tTa p.S8L ZCCHC16_uc004epo.1_Missense_Mutation_p.S8L NM_001004308 NP_001004308 Q6ZR62 ZCH16_HUMAN Homo sapiens zinc finger, CCHC domain containing 16 (ZCCHC16), mRNA. 8 nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 27 ACGAAATCATCATCTACCATG 0.468000 10 43 0 0 0.000781405 0 0 ABCD2 225 broad.mit.edu 37 12 39980071 39980071 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:39980071C>T uc001rmb.2 - 6 2101 c.1675G>A c.(1675-1677)Gat>Aat p.D559N NM_005164 NP_005155 Q9UBJ2 ABCD2_HUMAN Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA. 559 ABC transporter. fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding p.R558R(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 52 ATGACTTGATCCCGAAGACTT 0.398000 14 31 0 0 0.0024448 0 0 NLRP10 338322 broad.mit.edu 37 11 7984936 7984936 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:7984936G>A uc001mfv.1 - 0 124 c.107C>T c.(106-108)aCc>aTc p.T36I NM_176821 NP_789791 Q86W26 NAL10_HUMAN Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA. 36 DAPIN. ATP binding p.T36I(2) breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CTCAGACAGGGTCATATCCCG 0.537000 38 21 0 0 0.00278032 0 0 PSG8 440533 broad.mit.edu 37 19 43258585 43258585 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:43258585G>A uc002ouo.2 - 4 1241 c.1143C>T c.(1141-1143)atC>atT p.I381I PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Non-coding_Transcript|PSG8_uc002ouh.3_Silent_p.I381I|PSG8_uc010ein.3_Silent_p.I259I|PSG3_uc002oun.3_Intron NM_182707 NP_874366 Q9UQ74 PSG8_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA. 381 Ig-like C2-type 3. extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) TAATTTGGGGGATAAAGAGCT 0.458000 153 74 0 0 0.000781405 0 0 PAX1 5075 broad.mit.edu 37 20 21687290 21687290 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr20:21687290G>A uc002wsj.2 + 1 555 c.501G>A c.(499-501)ggG>ggA p.G167G PAX1_uc010zsl.2_Silent_p.G167G|PAX1_uc010zsm.2_Silent_p.G143G NM_006192 NP_006183 P15863 PAX1_HUMAN Homo sapiens paired box 1 (PAX1), mRNA. 167 Paired. regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 38 CCATCGGGGGGAGCAAGCCCC 0.652000 19 22 0 0 0.00152264 0 0 HOXD3 3232 broad.mit.edu 37 2 177036457 177036457 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:177036457G>A uc002ukt.1 + 2 930 c.754G>A c.(754-756)Gac>Aac p.D252N NM_006898 NP_008829 P31249 HXD3_HUMAN Homo sapiens homeobox D3 (HOXD3), mRNA. 252 Notch signaling pathway|anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2) 23 OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226) Colorectal(32;0.247) GTACAAGAAGGACCAGAAGGC 0.662000 44 15 0 0 0.00074312 0 0 DHRS3 9249 broad.mit.edu 37 1 12628406 12628406 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:12628406G>A uc001auc.3 - 5 1339 c.872C>T c.(871-873)aCc>aTc p.T291I DHRS3_uc001aub.3_Missense_Mutation_p.T206I NM_004753 NP_004744 O75911 DHRS3_HUMAN Homo sapiens dehydrogenase/reductase (SDR family) member 3 (DHRS3), mRNA. 291 retinol metabolic process|visual perception integral to membrane NADP-retinol dehydrogenase activity|electron carrier activity|nucleotide binding cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1) 9 Ovarian(185;0.249) Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419) Vitamin A(DB00162) GCAGGTGTAGGTTCCTGAGAA 0.527000 58 40 0 0 0.000781405 0 0 DNAH5 1767 broad.mit.edu 37 5 13753569 13753569 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr5:13753569C>T uc003jfd.2 - 62 10687 c.10645G>A c.(10645-10647)Gaa>Aaa p.E3549K DNAH5_uc003jfc.2_5'UTR NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3549 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) GCTTTCATTTCCTTCCGCCAG 0.403000 Kartagener syndrome 102 57 0 0 0.000781405 0 0 PCDHB11 56125 broad.mit.edu 37 5 140579560 140579560 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr5:140579560G>A uc003liy.3 + 0 213 c.213G>A c.(211-213)aaG>aaA p.K71K NM_018931 NP_061754 Q9Y5F2 PCDBB_HUMAN Homo sapiens protocadherin beta 11 (PCDHB11), mRNA. 71 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTAATGATAAGAAACAGCGTT 0.527000 18 49 0 0 0.000781405 0 0 RGPD3 653489 broad.mit.edu 37 2 107049570 107049570 + Missense_Mutation SNP T G G TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:107049570T>G uc010ywi.1 - 15 2434 c.2377A>C c.(2377-2379)Agt>Cgt p.S793R NM_001144013 NP_001137485 A6NKT7 RGPD3_HUMAN Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA. 793 intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 ACCTTGTAACTTTTACTTGGT 0.299000 138 11 0 0 0.00278032 0 0 SEZ6L 23544 broad.mit.edu 37 22 26690291 26690291 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr22:26690291G>A uc003acb.3 + 2 1065 c.869G>A c.(868-870)gGg>gAg p.G290E SEZ6L_uc003acd.3_Missense_Mutation_p.G290E|SEZ6L_uc011akd.2_Missense_Mutation_p.G290E|SEZ6L_uc003ace.3_Missense_Mutation_p.G290E|SEZ6L_uc011akc.2_Missense_Mutation_p.G290E|SEZ6L_uc003acc.3_Missense_Mutation_p.G290E|SEZ6L_uc003acf.1_Missense_Mutation_p.G63E|SEZ6L_uc010gvc.1_Missense_Mutation_p.G63E NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA. 290 CUB 1. endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 AATCCTGAGGGGTACATTGAC 0.517000 57 27 0 0 0.00178596 0 0 CACNG7 59284 broad.mit.edu 37 19 54418697 54418697 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:54418697G>A uc002qcr.2 + 2 457 c.362G>A c.(361-363)gGc>gAc p.G121D CACNG7_uc010era.2_Missense_Mutation_p.G121D NM_031896 NP_114102 P62955 CCG7_HUMAN Homo sapiens calcium channel, voltage-dependent, gamma subunit 7 (CACNG7), mRNA. 121 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex voltage-gated calcium channel activity p.G121C(1) NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0711) AGCAACATCGGCCACATCCGC 0.597000 25 23 0 0 0.000586117 0 0 ATP8A1 10396 broad.mit.edu 37 4 42554606 42554606 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr4:42554606C>T uc003gwr.2 - 16 1667 c.1435G>A c.(1435-1437)Gaa>Aaa p.E479K ATP8A1_uc003gws.2_Missense_Mutation_p.E464K|ATP8A1_uc011byz.1_Missense_Mutation_p.E464K NM_006095 NP_006086 Q9Y2Q0 AT8A1_HUMAN Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA. 479 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) GTAAGAAATTCACATATTATA 0.373000 41 34 0 0 0.00128727 0 0 SPHKAP 80309 broad.mit.edu 37 2 228882709 228882709 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:228882709C>T uc002vpq.2 - 6 2908 c.2861G>A c.(2860-2862)gGa>gAa p.G954E SPHKAP_uc002vpp.2_Missense_Mutation_p.G954E|SPHKAP_uc010zlx.1_Missense_Mutation_p.G954E NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA. 954 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GGGTTGTTTTCCACTGGAGTT 0.493000 54 29 0 0 0.0024448 0 0 GIMAP6 474344 broad.mit.edu 37 7 150325450 150325450 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:150325450G>A uc022apv.1 - 2 926 c.446C>T c.(445-447)tCc>tTc p.S149F GIMAP6_uc003whn.3_Missense_Mutation_p.S79F|GIMAP6_uc003whm.3_Intron NM_001244072 NP_001231001 Q6P9H5 GIMA6_HUMAN Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA. 79 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCGTCTCTGGGAGGTCTTGGT 0.582000 56 49 0 0 0.000781405 0 0 CACNA1I 8911 broad.mit.edu 37 22 40078628 40078628 + Missense_Mutation SNP A G G TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr22:40078628A>G uc003ayc.3 + 34 5792 c.5792A>G c.(5791-5793)aAc>aGc p.N1931S CACNA1I_uc003ayd.3_Missense_Mutation_p.N1896S|CACNA1I_uc003aye.3_Missense_Mutation_p.N1846S|CACNA1I_uc003ayf.3_Missense_Mutation_p.N1811S NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA. 1931 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) ATCCCATTCAACCCTGTCCGG 0.602000 16 6 0 0 0.00116845 0 0 RELN 5649 broad.mit.edu 37 7 103124250 103124250 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:103124250C>T uc022ajr.1 - 61 10191 c.10031G>A c.(10030-10032)aGc>aAc p.S3344N RELN_uc022ajq.1_Missense_Mutation_p.S3344N|RELN_uc010liz.3_Missense_Mutation_p.S3344N NM_005045 NP_005036 P78509 RELN_HUMAN Homo sapiens reelin (RELN), transcript variant 1, mRNA. 3344 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) ACTGTTGCAGCTGTCCGTCTG 0.463000 51 32 0 0 0.00058488 0 0 STARD6 147323 broad.mit.edu 37 18 51855774 51855774 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr18:51855774G>A uc010xdt.2 - 4 422 c.422C>T c.(421-423)tCa>tTa p.S141L NM_139171 NP_631910 P59095 STAR6_HUMAN Homo sapiens StAR-related lipid transfer (START) domain containing 6 (STARD6), mRNA. 141 START. lipid transport lipid binding endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2) 8 Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188) GATATAATTTGAAGATGGAGG 0.323000 133 52 0 0 0.000781405 0 0 SIGLEC11 114132 broad.mit.edu 37 19 50462696 50462696 + Silent SNP G T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:50462696G>T uc010ybh.2 - 4 1069 c.978C>A c.(976-978)gcC>gcA p.A326A SIGLEC11_uc010ybi.2_Silent_p.A326A NM_052884 NP_443116 Q96RL6 SIG11_HUMAN Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA. 326 Ig-like C2-type 2. cell adhesion integral to membrane sugar binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1) 32 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) CTGAATCCCCGGCCCTTACCC 0.682000 26 15 4.7546e-09 1.90523e-08 0.000422831 1 0 PTPRN2 5799 broad.mit.edu 37 7 157985158 157985158 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:157985158C>T uc003wno.3 - 4 531 c.410G>A c.(409-411)aGg>aAg p.R137K PTPRN2_uc003wnp.3_Missense_Mutation_p.R120K|PTPRN2_uc003wnq.3_Missense_Mutation_p.R137K|PTPRN2_uc003wnr.3_Missense_Mutation_p.R99K|PTPRN2_uc011kwa.2_Missense_Mutation_p.R160K NM_002847 NP_002838 Q92932 PTPR2_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA. 137 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.E136K(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) ACTGTACCTCCTCTCGCTGCC 0.632000 40 25 0 0 0.0024448 0 0 C6 729 broad.mit.edu 37 5 41149356 41149356 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr5:41149356C>T uc003jmk.2 - 16 2820 c.2610G>A c.(2608-2610)tgG>tgA p.W870* C6_uc003jml.1_Nonsense_Mutation_p.W870* NM_000065 NP_001108603 P13671 CO6_HUMAN Homo sapiens complement component 6 (C6), transcript variant 1, mRNA. 870 C5b-binding domain.|Complement control factor I module 2. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) AACATTTTTCCCAGTCATAGC 0.423000 152 95 0 0 0.000781405 0 0 KCNB1 3745 broad.mit.edu 37 20 47990861 47990861 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr20:47990861G>A uc002xur.1 - 1 1402 c.1236C>T c.(1234-1236)atC>atT p.I412I KCNB1_uc002xus.1_Silent_p.I412I NM_004975 NP_004966 Q14721 KCNB1_HUMAN Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA. 412 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) AGTTATTGACGATGATGGGGA 0.512000 59 21 0 0 0.00188189 0 0 CACNA1H 8912 broad.mit.edu 37 16 1270746 1270746 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr16:1270746G>A uc002cks.3 + 34 7062 c.6814G>A c.(6814-6816)Gac>Aac p.D2272N CACNA1H_uc002ckt.3_Missense_Mutation_p.D2266N|CACNA1H_uc002cku.3_Missense_Mutation_p.D967N|CACNA1H_uc010brj.3_Missense_Mutation_p.D983N|CACNA1H_uc002ckv.3_Missense_Mutation_p.D961N NM_021098 NP_066921 O95180 CAC1H_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA. 2272 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) TGAGCCGCTGGACCTCGGGGT 0.677000 10 13 0 0 0.00244969 0 0 LILRB4 11006 broad.mit.edu 37 19 55179408 55179408 + Missense_Mutation SNP C A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:55179408C>A uc002qgp.3 + 11 1647 c.1285C>A c.(1285-1287)Cca>Aca p.P429T LILRB4_uc002qgq.3_Missense_Mutation_p.P428T|LILRB4_uc010ert.3_Missense_Mutation_p.P470T|LILRB4_uc010eru.3_Missense_Mutation_p.P459T NM_006847 NP_006838 Q8NHJ6 LIRB4_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA. 429 integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) TGAGCCTCCTCCATCCCAGGA 0.622000 47 24 1.32143e-28 5.3332e-28 0.00106085 1 0 TRIML1 339976 broad.mit.edu 37 4 189068190 189068190 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr4:189068190C>T uc003izm.1 + 5 1186 c.1071C>T c.(1069-1071)atC>atT p.I357I TRIML1_uc003izn.1_Silent_p.I81I NM_178556 NP_848651 Q8N9V2 TRIML_HUMAN Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA. 357 B30.2/SPRY. multicellular organismal development ligase activity|zinc ion binding NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 60 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) AAGTGGGCATCTGCAAGGACT 0.532000 31 17 0 0 0.00074312 0 0 PSG3 5671 broad.mit.edu 37 19 43382238 43382238 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:43382238C>T uc002ovd.1 - 1 395 c.257G>A c.(256-258)gGt>gAt p.G86D PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Missense_Mutation_p.G86D|PSG3_uc002oun.3_Non-coding_Transcript|PSG3_uc002ovc.3_Missense_Mutation_p.G86D|PSG3_uc002ova.2_Missense_Mutation_p.G86D|PSG3_uc002ouz.2_Missense_Mutation_p.G86D|PSG3_uc002ovb.3_Missense_Mutation_p.G86D NM_006905 NP_008836 Q16557 PSG3_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA. 86 Ig-like V-type. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) AATTATTTCACCGTCTACTAC 0.458000 193 98 0 0 0.000781405 0 0 ETV6 2120 broad.mit.edu 37 12 12022505 12022505 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:12022505C>T uc001qzz.3 + 4 885 c.611C>T c.(610-612)cCc>cTc p.P204L ETV6_uc001raa.1_5'UTR NM_001987 NP_001978 P41212 ETV6_HUMAN Homo sapiens ets variant 6 (ETV6), mRNA. 204 cytoplasm|nucleolus protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36) CTCCGGTCCCCCCTGGACAAC 0.632000 T """NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5""" """congenital fibrosarcoma, multiple leukemia and lymphoma, secretory breast, MDS, ALL""" 70 40 0 0 0.0025221 0 0 SLC26A3 1811 broad.mit.edu 37 7 107415298 107415298 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:107415298C>T uc003ver.2 - 15 1908 c.1697G>A c.(1696-1698)cGa>cAa p.R566Q SLC26A3_uc003ves.2_Missense_Mutation_p.R531Q NM_000111 NP_000102 P40879 S26A3_HUMAN Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA. 566 STAS. excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 GCGTAGAATTCGAAGTGGACT 0.398000 50 35 0 0 0.00128727 0 0 CA6 765 broad.mit.edu 37 1 9017341 9017341 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:9017341C>T uc001apm.3 + 2 429 c.405C>T c.(403-405)atC>atT p.I135I CA6_uc009vmn.3_Silent_p.I75I NM_001215 NP_001206 P23280 CAH6_HUMAN Homo sapiens carbonic anhydrase VI (CA6), mRNA. 135 one-carbon metabolic process extracellular region carbonate dehydratase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5) 16 Ovarian(185;0.112)|all_lung(157;0.143) all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649) GACATGTGATCGAGGTACCTG 0.507000 24 22 0 0 0.000720815 0 0 OR6A2 8590 broad.mit.edu 37 11 6816325 6816325 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:6816325G>A uc001mes.1 - 0 815 c.615C>T c.(613-615)ttC>ttT p.F205F NM_003696 NP_003687 O95222 OR6A2_HUMAN Homo sapiens olfactory receptor, family 6, subfamily A, member 2 (OR6A2), mRNA. 205 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 29 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TGGCCAGGATGAAATCTGTAA 0.493000 92 42 0 0 0.000680045 0 0 APEH 327 broad.mit.edu 37 3 49713332 49713332 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:49713332G>A uc010hkw.1 + 4 775 c.375G>A c.(373-375)gaG>gaA p.E125E APEH_uc003cxf.3_Silent_p.E125E NM_001640 NP_001631 P13798 ACPH_HUMAN Homo sapiens N-acylaminoacyl-peptide hydrolase (APEH), mRNA. 125 proteolysis cytoplasm|nuclear membrane serine-type endopeptidase activity endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1) 15 BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) AGGTCTGGGAGAAGAACCGGA 0.567000 15 10 0 0 0.000442599 0 0 EVPL 2125 broad.mit.edu 37 17 74006472 74006472 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr17:74006472C>T uc010wss.1 - 21 3108 c.2880G>A c.(2878-2880)caG>caA p.Q960Q EVPL_uc002jqi.2_Silent_p.Q938Q|EVPL_uc010wst.1_Silent_p.Q408Q NM_001988 NP_001979 Q92817 EVPL_HUMAN Homo sapiens envoplakin (EVPL), mRNA. 938 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 GTTGGCTCCTCTGCGCCTCCA 0.662000 23 27 0 0 0.001512 0 0 NKX2-2 4821 broad.mit.edu 37 20 21494276 21494276 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr20:21494276G>A uc002wsi.3 - 0 389 c.32C>T c.(31-33)tCg>tTg p.S11L NM_002509 NP_002500 O95096 NKX22_HUMAN Homo sapiens NK2 homeobox 2 (NKX2-2), mRNA. 11 brain development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity p.S11L(2) endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 GTCCTTGACCGAAAACCCCGT 0.567000 43 27 0 0 0.00283554 0 0 NBEA 26960 broad.mit.edu 37 13 35733303 35733303 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr13:35733303G>A uc021rid.1 + 21 3529 c.2995G>A c.(2995-2997)Gaa>Aaa p.E999K NBEA_uc021ric.1_Missense_Mutation_p.E999K|NBEA_uc010abi.3_5'Flank NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA. 999 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) AGGTGGAATGGAAATTCGAGA 0.428000 61 36 0 0 0.00148497 0 0 WDR72 256764 broad.mit.edu 37 15 53991959 53991959 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr15:53991959C>T uc002acj.2 - 12 1795 c.1753G>A c.(1753-1755)Gaa>Aaa p.E585K WDR72_uc010bfi.1_Missense_Mutation_p.E585K NM_182758 NP_877435 Q3MJ13 WDR72_HUMAN Homo sapiens WD repeat domain 72 (WDR72), mRNA. 585 NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) GTTTCAATTTCCCAGATATAA 0.373000 93 43 0 0 0.000680045 0 0 MLL2 8085 broad.mit.edu 37 19 36223280 36223280 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:36223280C>T uc021usv.1 + 27 5830 c.5830C>T c.(5830-5832)Cct>Tct p.P1944S MLL2_uc021usu.1_Missense_Mutation_p.P758S NM_014727 NP_055542 O14686 MLL2_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA. 558 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5) 366 GGTGCCCCCTCCTACCTCAGT 0.672000 """N, F, Mis""" """medulloblastoma, renal""" HNSCC(34;0.089) 9 8 0 0 0.000274275 0 0 BSN 8927 broad.mit.edu 37 3 49692341 49692341 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:49692341C>T uc003cxe.4 + 4 5466 c.5352C>T c.(5350-5352)gcC>gcT p.A1784A NM_003458 NP_003449 Q9UPA5 BSN_HUMAN Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA. 1784 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) TCCAGACAGCCCCATACCGAA 0.592000 10 22 0 0 0.00278032 0 0 EPHX1 2052 broad.mit.edu 37 1 226019506 226019506 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:226019506C>T uc001hpk.3 + 2 290 c.210C>T c.(208-210)ttC>ttT p.F70F EPHX1_uc001hpl.3_Silent_p.F70F NM_001136018 NP_001129490 P07099 HYEP_HUMAN Homo sapiens epoxide hydrolase 1, microsomal (xenobiotic) (EPHX1), transcript variant 2, mRNA. 70 aromatic compound catabolic process|response to toxin endoplasmic reticulum membrane|integral to membrane|microsome cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 28 Breast(184;0.197) TCGATAAGTTCCGTTTCACCC 0.488000 51 25 0 0 0.000720815 0 0 PDE6A 5145 broad.mit.edu 37 5 149324129 149324129 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr5:149324129G>A uc003lrg.4 - 0 228 c.108C>T c.(106-108)ctC>ctT p.L36L PDE6A_uc021yfs.1_Silent_p.L36L NM_000440 NP_000431 P16499 PDE6A_HUMAN Homo sapiens phosphodiesterase 6A, cGMP-specific, rod, alpha (PDE6A), mRNA. 36 GMP metabolic process|cytosolic calcium ion homeostasis|platelet activation|signal transduction|visual perception cytosol|plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 44 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) TGGCCCCAAGGAGGTCGGAGA 0.557000 9 25 0 0 0.000586117 0 0 TERF2IP 54386 broad.mit.edu 37 16 75688173 75688173 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr16:75688173C>T uc002fet.2 + 1 819 c.673C>T c.(673-675)Cca>Tca p.P225S NM_018975 NP_061848 Q9NYB0 TE2IP_HUMAN Homo sapiens telomeric repeat binding factor 2, interacting protein (TERF2IP), mRNA. 225 Asp/Glu-rich (acidic). negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent cytoplasm|nuclear telomere cap complex|nucleoplasm DNA binding|protein binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1) 5 TTTAACAGAACCACAGAATAA 0.418000 62 31 0 0 0.00283554 0 0 GFRA1 2674 broad.mit.edu 37 10 118029037 118029037 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr10:118029037G>A uc001lcj.3 - 3 1094 c.396C>T c.(394-396)ttC>ttT p.F132F GFRA1_uc001lci.3_Silent_p.F132F|GFRA1_uc009xyr.3_Silent_p.F132F NM_005264 NP_005255 P56159 GFRA1_HUMAN Homo sapiens GDNF family receptor alpha 1 (GFRA1), transcript variant 1, mRNA. 132 axon guidance anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1) 26 Lung NSC(174;0.21) all cancers(201;0.0337) GGACCACCCGGAATATATCTG 0.418000 9 14 0 0 0.000422831 0 0 ANKRD36 375248 broad.mit.edu 37 2 97849224 97849224 + Splice_Site SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:97849224G>A uc010yva.2 + 27 2110 c.1866_splice c.e27+1 p.K622_splice ANKRD36_uc010fic.2_Splice_Site_p.K341_splice|ANKRD36_uc002sxo.2_Intron|ANKRD36_uc002sxp.3_Splice_Site|ANKRD36_uc002sxq.2_Intron NM_001164315 NP_001157787 A6QL64 AN36A_HUMAN Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA. 622 endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 CGGCCTGGAAGGTAGTTACTC 0.279000 7 3 0 0 0.000602214 0 0 ACOT11 26027 broad.mit.edu 37 1 55072900 55072900 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:55072900C>T uc001cxm.2 + 13 1640 c.1464C>T c.(1462-1464)ttC>ttT p.F488F ACOT11_uc001cxj.2_Silent_p.F366F|ACOT11_uc001cxl.2_Silent_p.F488F NM_015547 NP_056362 Q8WXI4 ACO11_HUMAN Homo sapiens acyl-CoA thioesterase 11 (ACOT11), transcript variant 1, mRNA. 488 START. fatty acid metabolic process|intracellular signal transduction|response to cold acyl-CoA thioesterase activity|carboxylesterase activity NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1) 17 CCCAGGACTTCGTGATCCTGG 0.627000 22 8 0 0 0.000442599 0 0 PRR5-ARHGAP8 553158 broad.mit.edu 37 22 45244853 45244853 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr22:45244853C>T uc003bfd.3 + 14 1697 c.1420C>T c.(1420-1422)Cct>Tct p.P474S PRR5-ARHGAP8_uc011aqi.2_Missense_Mutation_p.P386S|PRR5-ARHGAP8_uc011aqj.2_Missense_Mutation_p.P300S|PRR5-ARHGAP8_uc003bfi.3_Missense_Mutation_p.P264S|PRR5-ARHGAP8_uc010gzv.3_Missense_Mutation_p.P264S|PRR5-ARHGAP8_uc003bfj.3_Missense_Mutation_p.P295S|PRR5-ARHGAP8_uc003bfk.3_Missense_Mutation_p.P264S|PRR5-ARHGAP8_uc003bfl.3_Non-coding_Transcript NM_181335 NP_851852 Homo sapiens Rho GTPase activating protein 8 (ARHGAP8), transcript variant 2, mRNA. breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8) 30 CATTCACATCCCTGCCGTGAT 0.617000 75 40 0 0 0.00285205 0 0 TUBA3C 7278 broad.mit.edu 37 13 19748170 19748170 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr13:19748170C>T uc009zzj.3 - 4 1291 c.1186G>A c.(1186-1188)Gat>Aat p.D396N NM_006001 NP_525125 Q13748 TBA3C_HUMAN Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA. 396 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) TACATGAGATCGAACTTATGG 0.642000 55 19 0 0 0.000720815 0 0 DCLRE1B 64858 broad.mit.edu 37 1 114450741 114450741 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:114450741C>T uc001eeg.3 + 2 760 c.466C>T c.(466-468)Cct>Tct p.P156S AP4B1_uc010owp.2_5'Flank|AP4B1_uc001eed.3_5'Flank|DCLRE1B_uc001eeh.3_Missense_Mutation_p.P30S|DCLRE1B_uc001eei.3_Missense_Mutation_p.P30S NM_022836 NP_073747 Q9H816 DCR1B_HUMAN Homo sapiens DNA cross-link repair 1B (DCLRE1B), mRNA. 156 DNA repair|cell cycle checkpoint|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation centrosome|chromosome, telomeric region|nucleus 5'-3' exonuclease activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1) 18 Lung SC(450;0.184) all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CCTGGTTCTTCCTTCCCGACA 0.463000 Other identified genes with known or suspected DNA repair function 66 30 0 0 0.00283554 0 0 PRR21 643905 broad.mit.edu 37 2 240981381 240981381 + Missense_Mutation SNP G A A rs143332815 TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:240981381G>A uc010zod.2 - 0 1019 c.1019C>T c.(1018-1020)tCa>tTa p.S340L NM_001080835 NP_001074304 Q8WXC7 PRR21_HUMAN Homo sapiens proline rich 21 (PRR21), mRNA. 340 p.S340L(3) NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2) 29 AGACTTGGATGAAGAGGCATG 0.587000 57 42 0 0 0.00170553 0 0 CRB1 23418 broad.mit.edu 37 1 197398663 197398663 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:197398663G>A uc001gtz.3 + 7 2970 c.2761G>A c.(2761-2763)Gcc>Acc p.A921T CRB1_uc010poz.2_Missense_Mutation_p.A897T|CRB1_uc009wza.3_Missense_Mutation_p.A809T|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppd.2_Missense_Mutation_p.A402T|CRB1_uc001gub.1_Missense_Mutation_p.A570T NM_201253 NP_957705 P82279 CRUM1_HUMAN Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA. 921 EGF-like 13. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 AAGTGGGAAAGCCTGTGAGGA 0.537000 44 33 0 0 0.0024448 0 0 MTUS2 23281 broad.mit.edu 37 13 29600708 29600708 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr13:29600708G>A uc001usl.4 + 0 1961 c.1903G>A c.(1903-1905)Gag>Aag p.E635K NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA. 625 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 AAAAACAGAGGAGAGGACAGA 0.537000 21 15 0 0 0.000422831 0 0 DNAH10 196385 broad.mit.edu 37 12 124268667 124268667 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:124268667C>T uc001uft.4 + 7 1015 c.990C>T c.(988-990)ttC>ttT p.F330F NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA. 330 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TATTCAAGTTCCACACGGAGG 0.488000 25 72 0 0 0.000781405 0 0 ZC4H2 55906 broad.mit.edu 37 X 64139036 64139036 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chrX:64139036G>A uc004dvu.3 - 3 603 c.447C>T c.(445-447)ccC>ccT p.P149P ZC4H2_uc004dvv.3_Silent_p.P126P|ZC4H2_uc022byd.1_Silent_p.P126P|ZC4H2_uc022byc.1_Silent_p.P126P|ZC4H2_uc011mow.2_Intron|ZC4H2_uc011mov.2_Silent_p.P126P|ZC4H2_uc004dvw.2_3'UTR NM_018684 NP_001230733 Q9NQZ6 ZC4H2_HUMAN Homo sapiens zinc finger, C4H2 domain containing (ZC4H2), transcript variant 1, mRNA. 149 metal ion binding|protein binding endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 CAGGGATGGGGGGCTCCTGAG 0.562000 5 17 0 0 0.00121646 0 0 FAM173B 134145 broad.mit.edu 37 5 10239213 10239213 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr5:10239213G>A uc003jeo.2 - 1 301 c.272C>T c.(271-273)tCc>tTc p.S91F FAM173B_uc003jep.2_Non-coding_Transcript|FAM173B_uc010itr.2_Missense_Mutation_p.S91F NM_199133 NP_954584 Q6P4H8 F173B_HUMAN Homo sapiens family with sequence similarity 173, member B (FAM173B), mRNA. 91 integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 16 GTCCACAAGGGATCCTCTTCG 0.418000 89 55 0 0 0.000781405 0 0 SIGLEC16 400709 broad.mit.edu 37 19 50475286 50475286 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:50475286G>A uc010ybk.1 + 2 317 c.211G>A c.(211-213)Gaa>Aaa p.E71K SIGLEC16_uc002prf.3_Intron Homo sapiens cDNA FLJ50062 complete cds, highly similar to Sialic acid-binding Ig-like lectin 11 precursor. endometrium(2)|kidney(2)|lung(6) 10 AATGGAGCACGAAGGAGAGTT 0.677000 21 12 0 0 0.00136819 0 0 MOGAT3 346606 broad.mit.edu 37 7 100841986 100841986 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:100841986G>A uc003uyc.3 - 3 581 c.414C>T c.(412-414)ttC>ttT p.F138F MOGAT3_uc010lhr.3_Silent_p.F138F NM_178176 NP_835470 Q86VF5 MOGT3_HUMAN Homo sapiens monoacylglycerol O-acyltransferase 3 (MOGAT3), mRNA. 138 glycerol metabolic process|lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3) 22 Lung NSC(181;0.168)|all_lung(186;0.215) GGAGCCCCGGGAAGAGCTGGG 0.597000 33 21 0 0 0.00047179 0 0 KCNN3 3782 broad.mit.edu 37 1 154698412 154698412 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:154698412C>T uc021pah.1 - 5 2040 c.1726G>A c.(1726-1728)Gac>Aac p.D576N KCNN3_uc001ffo.3_Missense_Mutation_p.D256N|KCNN3_uc001ffp.3_Missense_Mutation_p.D561N NM_001204087 NP_001191016 Q9UGI6 KCNN3_HUMAN Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA. 566 Calmodulin-binding (By similarity). integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) AGCTGAGTGTCCATCATGAAG 0.572000 33 8 0 0 0.000157383 0 0 OR5L1 219437 broad.mit.edu 37 11 55579818 55579818 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:55579818G>A uc001nhw.1 + 0 876 c.876G>A c.(874-876)ctG>ctA p.L292L NM_001004738 NP_001004738 Q8NGL2 OR5L1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA. 292 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) TCTACAGCCTGAGAAATAAAG 0.443000 20 18 0 0 0.00152264 0 0 C6orf170 221322 broad.mit.edu 37 6 121481218 121481218 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr6:121481218G>A uc003pyo.1 - 23 2779 c.2711C>T c.(2710-2712)tCa>tTa p.S904L C6orf170_uc003pyq.1_Non-coding_Transcript|C6orf170_uc010kej.1_Missense_Mutation_p.S3L|C6orf170_uc003pyp.1_Missense_Mutation_p.S464L NM_152730 NP_689943 Q96NH3 BROMI_HUMAN Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA. 904 multicellular organismal development cilium|cytoplasm Rab GTPase activator activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1) 55 GBM - Glioblastoma multiforme(226;0.00521) TGGATATGATGAAAACATTGG 0.303000 44 45 0 0 0.000781405 0 0 ADAM29 11086 broad.mit.edu 37 4 175897197 175897197 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr4:175897197G>A uc003iuc.3 + 4 1191 c.521G>A c.(520-522)cGa>cAa p.R174Q ADAM29_uc003iud.3_Missense_Mutation_p.R174Q|ADAM29_uc010irr.3_Missense_Mutation_p.R174Q|ADAM29_uc011cki.2_Missense_Mutation_p.R174Q|ADAM29_uc021xuo.1_Missense_Mutation_p.R174Q NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA. 174 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) ATAACATGCCGAATGGAATTT 0.363000 55 25 0 0 0.000720815 0 0 RRAS 6237 broad.mit.edu 37 19 50139924 50139924 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:50139924G>A uc002pop.1 - 3 450 c.405C>T c.(403-405)ttC>ttT p.F135F NM_006270 NP_006261 P10301 RRAS_HUMAN Homo sapiens related RAS viral (r-ras) oncogene homolog (RRAS), mRNA. 135 Ras protein signal transduction|axon guidance|synaptic transmission intracellular|plasma membrane GDP binding|GTP binding|GTPase activity|protein binding endometrium(1)|kidney(1)|lung(2)|ovary(2) 6 OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206) ACACAACGGGGAAGTCGTCGC 0.607000 25 9 0 0 0.000274275 0 0 DEFB119 245932 broad.mit.edu 37 20 29965177 29965177 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr20:29965177C>T uc002wvt.3 - 1 247 c.127G>A c.(127-129)Gaa>Aaa p.E43K DEFB119_uc002wvs.3_3'UTR NM_153289 NP_695021 Q8N690 DB119_HUMAN Homo sapiens defensin, beta 119 (DEFB119), transcript variant 1, mRNA. 43 defense response to bacterium extracellular region large_intestine(2)|lung(1)|prostate(1) 4 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) TAGGGCTGTTCGTTCTTTTTG 0.433000 87 52 0 0 0.000781405 0 0 MYH4 4622 broad.mit.edu 37 17 10362699 10362699 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr17:10362699C>T uc002gmn.3 - 14 1567 c.1456G>A c.(1456-1458)Gag>Aag p.E486K AK097500_uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA. 486 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 TGCAGTTTCTCGTTGGTGAAG 0.433000 24 34 0 0 0.00128727 0 0 KCNK5 8645 broad.mit.edu 37 6 39159497 39159497 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr6:39159497G>A uc003oon.3 - 4 1033 c.669C>T c.(667-669)taC>taT p.Y223Y NM_003740 NP_003731 O95279 KCNK5_HUMAN Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA. 223 excretion integral to plasma membrane potassium channel activity|voltage-gated ion channel activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3) 19 CGAAGTAGCGGTACAGGGCGT 0.562000 53 19 0 0 0.00278032 0 0 ADAM28 10863 broad.mit.edu 37 8 24207392 24207392 + Missense_Mutation SNP T G G TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:24207392T>G uc003xdy.3 + 18 2089 c.2006T>G c.(2005-2007)gTt>gGt p.V669G ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Missense_Mutation_p.V356G NM_014265 NP_055080 Q9UKQ2 ADA28_HUMAN Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA. 669 proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) TCCATTGTGGTTGGGGTGCTG 0.502000 124 7 0 0 0.000157383 0 0 CTNNA3 29119 broad.mit.edu 37 10 68940176 68940176 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr10:68940176C>T uc009xpn.1 - 6 1069 c.946G>A c.(946-948)Gat>Aat p.D316N CTNNA3_uc001jmw.2_Missense_Mutation_p.D316N|CTNNA3_uc001jmx.4_Missense_Mutation_p.D316N|CTNNA3_uc009xpo.1_Missense_Mutation_p.D176N|CTNNA3_uc001jna.2_Missense_Mutation_p.D328N NM_001127384 NP_037398 Q9UI47 CTNA3_HUMAN Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA. 316 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 CATGAAGAATCCGCCAGCAGA 0.483000 16 27 0 0 0.000878237 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113518865 113518865 + Missense_Mutation SNP C T T rs62001880 byFrequency TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:113518865C>T uc010ljy.1 - 3 2313 c.2282G>A c.(2281-2283)cGa>cAa p.R761Q NM_002711 NP_002702 Q16821 PPR3A_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA. 761 glycogen metabolic process integral to membrane p.R761Q(2) NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 CCTGTCACTTCGTGCTGTCTC 0.413000 81 36 0 0 0.00222228 0 0 HOXA5 3202 broad.mit.edu 37 7 27181684 27181684 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:27181684C>T uc003syn.2 - 1 644 c.583G>A c.(583-585)Ggc>Agc p.G195S HOXA-AS3_uc003syr.2_Intron NM_019102 NP_061975 P20719 HXA5_HUMAN Homo sapiens homeobox A5 (HOXA5), mRNA. 195 negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.G195V(1) central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1) 16 GCCCTTTTGCCTTCCGGGCCG 0.567000 OREG0017911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 9 0 0 0.000673444 0 0 KIF6 221458 broad.mit.edu 37 6 39563951 39563951 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr6:39563951C>T uc003oot.2 - 6 820 c.725G>A c.(724-726)cGa>cAa p.R242Q KIF6_uc010jxa.1_Missense_Mutation_p.R33Q|KIF6_uc011dua.1_Missense_Mutation_p.R242Q|KIF6_uc010jxb.1_Missense_Mutation_p.R242Q NM_145027 NP_659464 Q6ZMV9 KIF6_HUMAN Homo sapiens kinesin family member 6 (KIF6), mRNA. 242 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 TTTGGCATGTCGTACAGTTGC 0.463000 33 16 0 0 0.000422831 0 0 MYNN 55892 broad.mit.edu 37 3 169496853 169496853 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:169496853C>T uc003ffu.3 + 3 1060 c.564C>T c.(562-564)tcC>tcT p.S188S MYNN_uc011bpm.2_Silent_p.S74S|MYNN_uc003fft.3_Silent_p.S188S|MYNN_uc003ffv.3_5'UTR|MYNN_uc010hwo.3_Silent_p.S188S|MYNN_uc003ffw.1_Non-coding_Transcript NM_001185118 NP_061127 Q9NPC7 MYNN_HUMAN Homo sapiens myoneurin (MYNN), transcript variant 2, mRNA. 188 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197) Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676) CTTTCAACTCCCCGAAAACAG 0.398000 39 14 0 0 0.00244969 0 0 TNFRSF10D 8793 broad.mit.edu 37 8 23003354 23003354 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:23003354G>A uc003xcz.1 - 4 655 c.563C>T c.(562-564)tCc>tTc p.S188F NM_003840 NP_003831 Q9UBN6 TR10D_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain (TNFRSF10D), mRNA. 188 anti-apoptosis|apoptosis integral to membrane TRAIL binding|transmembrane receptor activity endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612) TTTCCCAGTGGAACTGGCAGC 0.522000 45 46 0 0 0.000781405 0 0 ARL10 285598 broad.mit.edu 37 5 175793397 175793397 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr5:175793397G>A uc003meb.3 + 1 263 c.198G>A c.(196-198)gaG>gaA p.E66E ARL10_uc003mec.1_Silent_p.E66E NM_173664 NP_775935 Q8N8L6 ARL10_HUMAN Homo sapiens ADP-ribosylation factor-like 10 (ARL10), mRNA. 66 GTP binding endometrium(2)|lung(1)|ovary(1) 4 all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Kidney(146;0.0965) AGGACGAGGAGGACGAGGAGC 0.692000 3 7 0 0 0.000157383 0 0 SAMD9 54809 broad.mit.edu 37 7 92735124 92735124 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:92735124G>A uc003umf.3 - 2 557 c.287C>T c.(286-288)cCt>cTt p.P96L SAMD9_uc003umg.3_Missense_Mutation_p.P96L|SAMD9_uc022ahg.1_Missense_Mutation_p.P96L NM_017654 NP_060124 Q5K651 SAMD9_HUMAN Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA. 96 cytoplasm p.P96L(2) 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) TTGGTCTTTAGGAGCATTTTT 0.388000 118 54 0 0 0.000781405 0 0 GABPB1 2553 broad.mit.edu 37 15 50570924 50570924 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr15:50570924G>A uc001zyb.3 - 8 1517 c.1093C>T c.(1093-1095)Cga>Tga p.R365* GABPB1_uc001zya.3_Nonsense_Mutation_p.R353*|GABPB1_uc010ufg.2_Nonsense_Mutation_p.R289* NM_005254 NP_005245 Q06547 GABP1_HUMAN Homo sapiens GA binding protein transcription factor, beta subunit 1 (GABPB1), transcript variant beta-1, mRNA. 365 positive regulation of transcription from RNA polymerase II promoter nucleus protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding p.R365Q(1) cervix(1)|endometrium(1)|large_intestine(7)|lung(5) 14 AGCTGCTGTCGATATTTTTGT 0.368000 77 40 0 0 0.00170553 0 0 PTPRC 5788 broad.mit.edu 37 1 198725200 198725200 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:198725200C>T uc001gur.1 + 32 3985 c.3805C>T c.(3805-3807)Ctc>Ttc p.L1269F PTPRC_uc001gut.1_Missense_Mutation_p.L1108F NM_002838 NP_002829 P08575 PTPRC_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA. 1269 B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 CCCAGAAAAGCTCCCTGAAGC 0.433000 58 23 0 0 0.00229938 0 0 AGAP1 116987 broad.mit.edu 37 2 237028968 237028969 + Silent DNP CC AT AT TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:237028968_237028969CC>AT uc002vvs.3 + 16 2845_2846 c.2247_2248CC>AT c.(2245-2250)atcctg>atATtg p.749_750IL>IL AGAP1_uc002vvt.3_Silent_p.696_697IL>IL NM_001037131 NP_001032208 Q9UPQ3 AGAP1_HUMAN Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA. 749 protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 GGACGGCCATCCTGCTGCTGGC 0.713000 23 21 0 0 6.4e-05 0 0 NKG7 4818 broad.mit.edu 37 19 51875654 51875654 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:51875654C>T uc002pwj.3 - 0 307 c.136G>A c.(136-138)Ggg>Agg p.G46R NKG7_uc002pwk.3_Missense_Mutation_p.G46R NM_005601 NP_005592 Q16617 NKG7_HUMAN Homo sapiens natural killer cell group 7 sequence (NKG7), mRNA. 46 integral to plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 10 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) TCCCCATGCCCTGTTGGCCAG 0.587000 60 28 0 0 0.00178596 0 0 TTN 7273 broad.mit.edu 37 2 179586730 179586730 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:179586730C>T uc021vsy.1 - 74 19153 c.18928G>A c.(18928-18930)Gag>Aag p.E6310K TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E2971K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 7237 Ig-like 44. 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) GGACGGATCTCCTTGTTATCT 0.413000 118 62 0 0 0.000781405 0 0 LRRC6 23639 broad.mit.edu 37 8 133595957 133595957 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:133595957C>T uc003ytk.3 - 10 1284 c.1210G>A c.(1210-1212)Gaa>Aaa p.E404K LRRC6_uc022bbp.1_Missense_Mutation_p.E404K|LRRC6_uc003ytl.3_Non-coding_Transcript NM_012472 NP_036604 Q86X45 LRRC6_HUMAN Homo sapiens leucine rich repeat containing 6 (LRRC6), mRNA. 404 cytoplasm breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2) 34 Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) TTTGTTTGTTCTCTGCTCCTG 0.403000 42 22 0 0 0.00047179 0 0 abParts 0 broad.mit.edu 37 14 106967395 106967395 + RNA SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr14:106967395G>A uc021ser.1 - 263 c.10105C>T Parts of antibodies, mostly variable regions. CCTCTAAACTGGAAAAAATCC 0.567000 23 38 0 0 0.000814825 0 0 TMEM132C 92293 broad.mit.edu 37 12 128899729 128899729 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:128899729G>A uc021rgn.1 + 1 538 c.538G>A c.(538-540)Gag>Aag p.E180K NM_001136103 NP_001129575 Q8N3T6 T132C_HUMAN Homo sapiens transmembrane protein 132C (TMEM132C), mRNA. 180 integral to membrane breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1) 13 AGAAACCAGAGAGGTGCGGGG 0.642000 2 5 0 0 0.00116845 0 0 ACSM2B 348158 broad.mit.edu 37 16 20554476 20554476 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr16:20554476C>T uc002dhj.4 - 11 1600 c.1390G>A c.(1390-1392)Gat>Aat p.D464N ACSM2B_uc002dhk.4_Missense_Mutation_p.D464N|ACSM2B_uc010bwf.1_Missense_Mutation_p.D464N NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 464 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding p.D464N(2)|p.D464D(1) breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 TTAATGATATCATCTGCCCGT 0.507000 228 75 0 0 0.000781405 0 0 RALGPS2 55103 broad.mit.edu 37 1 178846662 178846663 + Missense_Mutation DNP GA AT AT TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:178846662_178846663GA>AT uc001glz.3 + 8 975_976 c.637_638GA>AT c.(637-639)gat>ATt p.D213I RALGPS2_uc001gly.1_Missense_Mutation_p.D213I|RALGPS2_uc010pnb.2_Missense_Mutation_p.D213I NM_152663 NP_689876 Q86X27 RGPS2_HUMAN Homo sapiens Ral GEF with PH domain and SH3 binding motif 2 (RALGPS2), mRNA. 213 Ras-GEF. small GTPase mediated signal transduction cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity|protein binding p.D213Y(2) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 AACATACATCGATTCAGCATAC 0.337000 51 14 0 0 6.4e-05 0 0 ADAM18 8749 broad.mit.edu 37 8 39496021 39496021 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:39496021C>T uc003xni.3 + 9 920 c.865C>T c.(865-867)Cct>Tct p.P289S ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.P265S NM_014237 NP_055052 Q9Y3Q7 ADA18_HUMAN Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA. 289 Peptidase M12B. cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding p.P289S(2)|p.P289F(2)|p.P289L(1) NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) AGCAACATTTCCTGGCACTGT 0.274000 41 26 0 0 0.0024448 0 0 BSN 8927 broad.mit.edu 37 3 49689342 49689342 + Missense_Mutation SNP G A A rs139369583 TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:49689342G>A uc003cxe.4 + 4 2467 c.2353G>A c.(2353-2355)Gaa>Aaa p.E785K NM_003458 NP_003449 Q9UPA5 BSN_HUMAN Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA. 785 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) GGAGGAAGACGAAGACTCTGC 0.597000 12 12 0 0 0.00136819 0 0 STRADB 55437 broad.mit.edu 37 2 202343314 202343314 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:202343314C>T uc002uyd.4 + 9 1425 c.1060C>T c.(1060-1062)Cct>Tct p.P354S STRADB_uc021vvb.1_Missense_Mutation_p.P354S NM_018571 NP_061041 Q9C0K7 STRAB_HUMAN Homo sapiens STE20-related kinase adaptor beta (STRADB), transcript variant 1, mRNA. 354 Protein kinase. activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation cytosol|nucleus ATP binding|protein binding|protein kinase activity breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1) 13 GCAACAAGATCCTGAGAAAAG 0.363000 33 8 0 0 0.000274275 0 0 USP8 9101 broad.mit.edu 37 15 50741605 50741605 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr15:50741605C>T uc001zym.4 + 4 758 c.258C>T c.(256-258)ttC>ttT p.F86F USP8_uc001zyk.1_5'UTR|USP8_uc001zyl.4_Silent_p.F86F|USP8_uc001zyn.4_Silent_p.F86F|USP8_uc010ufh.2_Intron|USP8_uc010bev.1_5'UTR NM_001128611 NP_005145 P40818 UBP8_HUMAN Homo sapiens ubiquitin specific peptidase 8 (USP8), transcript variant 3, mRNA. 86 MIT. cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process cytosol|early endosome|extrinsic to plasma membrane|nucleus SH3 domain binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771) AGGATTATTTCCATTCAATAC 0.318000 17 12 0 0 0.00185496 0 0 IGDCC4 57722 broad.mit.edu 37 15 65687481 65687481 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr15:65687481C>T uc002aou.1 - 7 1737 c.1527G>A c.(1525-1527)ctG>ctA p.L509L IGDCC4_uc002aot.1_Silent_p.L97L NM_020962 NP_066013 Q8TDY8 IGDC4_HUMAN Homo sapiens immunoglobulin superfamily, DCC subclass, member 4 (IGDCC4), mRNA. 509 Fibronectin type-III 1. integral to membrane|plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 44 GGCTGGCTCCCAGCTGGGAGT 0.557000 23 8 0 0 0.000274275 0 0 PIK3CG 5294 broad.mit.edu 37 7 106513203 106513203 + Missense_Mutation SNP A T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:106513203A>T uc003vdv.4 + 3 2192 c.2107A>T c.(2107-2109)Ata>Tta p.I703L PIK3CG_uc003vdu.3_Missense_Mutation_p.I703L|PIK3CG_uc003vdw.3_Missense_Mutation_p.I703L NM_002649 NP_002640 P48736 PK3CG_HUMAN Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA. 703 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 GAGAAGTGAGATAGCCCAGTC 0.448000 55 33 0 0 0.00148497 0 0 NPSR1 387129 broad.mit.edu 37 7 34851465 34851465 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:34851465C>T uc003teh.1 + 3 596 c.468C>T c.(466-468)ttC>ttT p.F156F NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Silent_p.F156F|NPSR1_uc010kwt.1_Silent_p.F3F|NPSR1_uc010kwu.1_Intron|NPSR1_uc010kwv.1_Intron|NPSR1_uc003tei.1_Silent_p.F156F|NPSR1_uc010kww.1_Silent_p.F145F|NPSR1_uc011kar.1_Intron|NPSR1-AS1_uc010kwy.3_Intron|NPSR1-AS1_uc003tek.4_Intron NM_207173 NP_997056 Q6W5P4 NPSR1_HUMAN Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA. 156 cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7) 31 Halothane(DB01159) CCATGAAGTTCCTTCAAGGAG 0.443000 58 44 0 0 0.000781405 0 0 B3GNTL1 146712 broad.mit.edu 37 17 80972384 80972384 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr17:80972384C>T uc002kgg.1 - 4 368 c.354G>A c.(352-354)atG>atA p.M118I B3GNTL1_uc002kgf.1_5'UTR NM_001009905 NP_001009905 Q67FW5 B3GNL_HUMAN Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 (B3GNTL1), mRNA. 118 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) GCTGGGGCATCATGACGTCAT 0.493000 53 31 0 0 0.000692331 0 0 CECR1 51816 broad.mit.edu 37 22 17684584 17684584 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr22:17684584C>T uc002zmk.1 - 2 834 c.622G>A c.(622-624)Gaa>Aaa p.E208K CECR1_uc010gqu.1_Missense_Mutation_p.E208K|CECR1_uc011agi.1_Missense_Mutation_p.E166K|CECR1_uc011agj.1_Missense_Mutation_p.E166K NM_017424 NP_059120 Q9NZK5 CECR1_HUMAN Homo sapiens cat eye syndrome chromosome region, candidate 1 (CECR1), transcript variant 1, mRNA. 208 Substrate binding. adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process Golgi apparatus|extracellular space adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 25 all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106) AAGATGGTTTCAAATTTCGAC 0.488000 44 6 0 0 0.00116845 0 0 STRC 161497 broad.mit.edu 37 15 43900142 43900142 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr15:43900142C>T uc001zsf.3 - 17 3791 c.3713G>A c.(3712-3714)aGg>aAg p.R1238K STRC_uc010bdl.3_Missense_Mutation_p.R465K|STRC_uc001zse.3_5'UTR NM_153700 NP_714544 Q7RTU9 STRC_HUMAN Homo sapiens stereocilin (STRC), mRNA. 1238 sensory perception of sound cell surface skin(4) 4 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) CATTGCCATCCTCCGCTGTAG 0.552000 66 40 0 0 0.000781405 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113518396 113518396 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:113518396G>A uc010ljy.1 - 3 2782 c.2751C>T c.(2749-2751)tcC>tcT p.S917S NM_002711 NP_002702 Q16821 PPR3A_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA. 917 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 TATGATGTTTGGAAAAAGGAG 0.393000 71 25 0 0 0.00047179 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T C C rs11554290 TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:115256529T>C uc009wgu.3 - 2 436 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524 NP_002515 P01111 RASN_HUMAN Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA. 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 81 47 0 0 0.000781405 0 0 GPX6 257202 broad.mit.edu 37 6 28478531 28478531 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr6:28478531G>A uc021yrx.1 - 1 288 c.238C>T c.(238-240)Cct>Tct p.P80S GPX6_uc010jrg.1_Non-coding_Transcript NM_182701 NP_874360 P59796 GPX6_HUMAN Homo sapiens glutathione peroxidase 6 (olfactory) (GPX6), mRNA. 80 response to oxidative stress extracellular region glutathione peroxidase activity NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Glutathione(DB00143) TTCTTACCAGGATACTGAGCT 0.473000 34 20 0 0 0.000958276 0 0 CYP4A11 1579 broad.mit.edu 37 1 47399653 47399653 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:47399653G>A uc001cqp.4 - 8 1238 c.1187C>T c.(1186-1188)cCc>cTc p.P396L CYP4A11_uc001cqq.2_Missense_Mutation_p.P396L|CYP4A11_uc010omm.1_Non-coding_Transcript NM_000778 NP_000769 Q02928 CP4AB_HUMAN Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA. 396 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) GAAGGTGACGGGAGTGCTGAG 0.582000 25 10 0 0 0.00136819 0 0 NRAP 4892 broad.mit.edu 37 10 115400007 115400007 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr10:115400007C>T uc001lal.3 - 13 1571 c.1407G>A c.(1405-1407)atG>atA p.M469I NRAP_uc001laj.3_Missense_Mutation_p.M469I|NRAP_uc001lak.3_Missense_Mutation_p.M434I NM_198060 NP_932326 Q86VF7 NRAP_HUMAN Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA. 469 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) GCACCAGTTTCATAGCTGTTT 0.418000 23 42 0 0 0.000680045 0 0 KCTD21 283219 broad.mit.edu 37 11 77885399 77885399 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:77885399G>A uc001ozb.3 - 1 277 c.202C>T c.(202-204)Ctt>Ttt p.L68F KCTD21_uc021qnx.1_Missense_Mutation_p.L68F NM_001029859 NP_001025030 Q4G0X4 KCD21_HUMAN Homo sapiens potassium channel tetramerisation domain containing 21 (KCTD21), mRNA. 68 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2) 11 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.46e-24) GGCAGGTCAAGGTGGGAGGTC 0.602000 24 13 0 0 0.00136819 0 0 ADAM19 8728 broad.mit.edu 37 5 156918648 156918648 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr5:156918648G>A uc003lwz.3 - 17 2149 c.2070C>T c.(2068-2070)atC>atT p.I690I ADAM19_uc003lww.2_Silent_p.I423I|ADAM19_uc003lwy.3_Silent_p.I289I|ADAM19_uc011ddr.1_Silent_p.I621I NM_033274 NP_150377 Q9H013 ADA19_HUMAN Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA. 690 proteolysis integral to membrane SH3 domain binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GCCCACTGTCGATACTGCCCC 0.637000 4 6 0 0 0.00198382 0 0 SULT1A1 6817 broad.mit.edu 37 16 28619805 28619805 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr16:28619805G>A uc002dqn.3 - 5 1133 c.541C>T c.(541-543)Ccc>Tcc p.P181S NPIPL1_uc010vct.2_Intron|SULT1A1_uc002dqj.3_Missense_Mutation_p.P90S|SULT1A1_uc002dqi.3_Missense_Mutation_p.P90S|SULT1A1_uc002dqk.3_Missense_Mutation_p.P90S|SULT1A1_uc002dql.3_Missense_Mutation_p.P90S|SULT1A1_uc002dqm.3_Intron|SULT1A1_uc002dqp.3_Missense_Mutation_p.P90S NM_177534 NP_803878 P50225 ST1A1_HUMAN Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 (SULT1A1), transcript variant 4, mRNA. 90 E -> G (in Ref. 5; CAA59147). 3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process cytosol aryl sulfotransferase activity|flavonol 3-sulfotransferase activity endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2) 16 ACACCTGAGGGAATCCCTGGG 0.587000 24 10 0 0 0.000978159 0 0 C1orf129 80133 broad.mit.edu 37 1 170961410 170961410 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:170961410G>A uc010plz.2 + 11 1288 c.1134G>A c.(1132-1134)gaG>gaA p.E378E C1orf129_uc001ghg.3_Silent_p.E378E|C1orf129_uc009wvy.3_Silent_p.E185E NM_001163629 NP_001157101 Q5TGP6 CA129_HUMAN Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA. 378 binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3) 45 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GGGAAATGGAGGACACCGTAA 0.468000 54 23 0 0 0.000586117 0 0 PAPPA2 60676 broad.mit.edu 37 1 176671742 176671742 + Splice_Site SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:176671742G>A uc001gkz.3 + 9 4401 c.3237_splice c.e9-1 p.V1079_splice PAPPA2_uc009www.3_Splice_Site NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 1079 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 GGTTTCCACAGGGAGGTCACA 0.498000 28 13 0 0 0.00136819 0 0 SERPINA13 388007 broad.mit.edu 37 14 95111306 95111306 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr14:95111306C>T uc001ydt.3 + 3 1126 c.1038C>T c.(1036-1038)ttC>ttT p.F346F Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13 (pseudogene) (SERPINA13), non-coding RNA. endometrium(1)|large_intestine(1)|lung(9)|skin(1) 12 AACTCGATTTCCACTTCCCCA 0.542000 37 4 0 0 0.00116845 0 0 X97876 0 broad.mit.edu 37 9 66499716 66499716 + Missense_Mutation SNP A G G rs141617852 by1000genomes TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr9:66499716A>G uc004aee.1 + 0 526 c.526A>G c.(526-528)Aat>Gat p.N176D X97876_uc004aed.1_Non-coding_Transcript Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134). CCTGGAGCCCAATCTGCTGGA 0.607000 44 9 0 0 0.000673444 0 0 GRIN3A 116443 broad.mit.edu 37 9 104433273 104433273 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr9:104433273C>T uc004bbp.2 - 2 2022 c.1421G>A c.(1420-1422)gGa>gAa p.G474E GRIN3A_uc004bbq.1_Missense_Mutation_p.G474E NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA. 474 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) CATTGGCTTTCCCATGGGGTC 0.502000 52 63 0 0 0.000781405 0 0 NLRP7 199713 broad.mit.edu 37 19 55451105 55451105 + Missense_Mutation SNP G A A rs143169084 byFrequency TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:55451105G>A uc002qih.4 - 3 1158 c.1082C>T c.(1081-1083)tCg>tTg p.S361L NLRP7_uc010esk.3_Missense_Mutation_p.S361L|NLRP7_uc002qig.4_Missense_Mutation_p.S361L|NLRP7_uc002qii.4_Missense_Mutation_p.S361L|NLRP7_uc010esl.3_Missense_Mutation_p.S389L NM_206828 NP_996611 Q8WX94 NALP7_HUMAN Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA. 361 NACHT. ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) CGCGGGGGCCGAGCCCAGCTG 0.632000 27 18 0 0 0.00229938 0 0 ROS1 6098 broad.mit.edu 37 6 117714445 117714445 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr6:117714445C>T uc003pxp.1 - 10 1403 c.1204G>A c.(1204-1206)Gaa>Aaa p.E402K ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA. 402 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) GGAGTAATTTCCTCGATGTTT 0.363000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 85 155 0 0 0.000781405 0 0 PIK3R5 23533 broad.mit.edu 37 17 8790475 8790475 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr17:8790475C>T uc002glt.3 - 11 1910 c.1843G>A c.(1843-1845)Gac>Aac p.D615N PIK3R5_uc010vuz.2_Missense_Mutation_p.D615N|PIK3R5_uc021tqc.1_Missense_Mutation_p.D229N|PIK3R5_uc010cob.2_Missense_Mutation_p.D229N|PIK3R5_uc010coa.2_Missense_Mutation_p.D229N|PIK3R5_uc002glu.4_Missense_Mutation_p.D229N NM_014308 NP_001238784 Q8WYR1 PI3R5_HUMAN Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA. 615 platelet activation cytosol|membrane|nucleus breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1) 34 TACCAGGGGTCCAGCATGCCG 0.612000 12 17 0 0 0.00074312 0 0 OR51B5 282763 broad.mit.edu 37 11 5364484 5364484 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:5364484C>T uc001map.1 - 0 271 c.271G>A c.(271-273)Gga>Aga p.G91R HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Missense_Mutation_p.G91R NM_001005567 NP_001005567 Q9H339 O51B5_HUMAN Homo sapiens olfactory receptor, family 51, subfamily B, member 5 (OR51B5), transcript variant 1, mRNA. 91 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 28 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCCGCACTTCCAATCTCCCTG 0.552000 21 17 0 0 0.000422831 0 0 SCN11A 11280 broad.mit.edu 37 3 38950496 38950496 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:38950496C>T uc021wvy.1 - 8 1490 c.1291G>A c.(1291-1293)Gaa>Aaa p.E431K NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA. 431 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) ACCTCCTTTTCCTCCTTTAAC 0.532000 23 40 0 0 0.00195071 0 0 KCNB2 9312 broad.mit.edu 37 8 73848737 73848737 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:73848737G>A uc003xzb.3 + 2 1735 c.1147G>A c.(1147-1149)Ggc>Agc p.G383S NM_004770 NP_004761 Q92953 KCNB2_HUMAN Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA. 383 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) GACCACTGTTGGCTATGGTGA 0.453000 55 34 0 0 0.000692331 0 0 CDH4 1002 broad.mit.edu 37 20 60498655 60498655 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr20:60498655C>T uc002ybn.2 + 9 1609 c.1521C>T c.(1519-1521)ttC>ttT p.F507F CDH4_uc002ybr.2_Silent_p.F470F|CDH4_uc002ybp.2_Silent_p.F433F NM_001794 NP_001785 P55283 CADH4_HUMAN Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA. 507 Cadherin 3. adherens junction organization|cell junction assembly calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) CTCCCTACTTCCCCTCAAACC 0.627000 7 6 0 0 0.00116845 0 0 C1orf168 199920 broad.mit.edu 37 1 57257776 57257776 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:57257776C>T uc001cym.4 - 1 1116 c.710G>A c.(709-711)aGc>aAc p.S237N C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc009vzv.1_Missense_Mutation_p.S237N NM_001004303 NP_001004303 Q5VWT5 CA168_HUMAN Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA. 237 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 CTGGCAGGGGCTGCTTGCCGG 0.498000 61 35 0 0 0.00283554 0 0 abParts 0 broad.mit.edu 37 14 106586352 106586352 + RNA SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr14:106586352C>T uc021ser.1 - 1811 c.33944G>A abParts_uc001ysv.3_Non-coding_Transcript Parts of antibodies, mostly variable regions. AAGGTGAATCCAGAGGCTGCA 0.567000 51 5 0 0 0.00116845 0 0 DHCR7 1717 broad.mit.edu 37 11 71146507 71146507 + Missense_Mutation SNP C T T rs80338864 TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:71146507C>T uc001oqk.3 - 8 1592 c.1342G>A c.(1342-1344)Gag>Aag p.E448K DHCR7_uc001oql.3_Missense_Mutation_p.E448K NM_001163817 NP_001351 Q9UBM7 DHCR7_HUMAN Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 2, mRNA. 448 E -> K (in SLOS; mild).|E -> Q (in SLOS). cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane 7-dehydrocholesterol reductase activity|protein binding endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1) 19 NADH(DB00157) CAGCGGTGCTCGTCCCGGAGG 0.667000 Smith-Lemli-Opitz syndrome 20 21 0 0 0.00152264 0 0 HECW2 57520 broad.mit.edu 37 2 197184087 197184087 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:197184087C>T uc002utm.1 - 8 1710 c.1527G>A c.(1525-1527)gaG>gaA p.E509E HECW2_uc002utl.1_Silent_p.E153E NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA. 509 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity p.E509K(1) biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 CAGGGTTGTCCTCCAGCTTTG 0.517000 28 12 0 0 0.000978159 0 0 PLCB4 5332 broad.mit.edu 37 20 9434089 9434089 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr20:9434089G>A uc021wam.1 + 28 2955 c.2940G>A c.(2938-2940)gaG>gaA p.E980E PLCB4_uc010gbw.1_Silent_p.E980E|PLCB4_uc010gbx.3_Silent_p.E992E|PLCB4_uc021wal.1_Silent_p.E980E|PLCB4_uc002wnh.3_Silent_p.E827E NM_000933 NP_000924 Q15147 PLCB4_HUMAN Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA. 980 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 AAATCCTAGAGAAGGCAATGA 0.388000 23 19 0 0 0.00121646 0 0 NTF3 4908 broad.mit.edu 37 12 5603428 5603428 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:5603428C>T uc001qnl.4 + 0 131 c.48C>T c.(46-48)atC>atT p.I16I NTF3_uc001qnk.4_Silent_p.I29I NM_002527 NP_002518 P20783 NTF3_HUMAN Homo sapiens neurotrophin 3 (NTF3), transcript variant 2, mRNA. 16 signal transduction extracellular region growth factor activity|neurotrophin receptor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1) 22 TCCGTGGCATCCAAGGTAACA 0.418000 49 18 0 0 0.000958276 0 0 TMEM62 80021 broad.mit.edu 37 15 43446960 43446960 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr15:43446960C>T uc001zqr.3 + 8 1392 c.1113C>T c.(1111-1113)ccC>ccT p.P371P TMEM62_uc010bda.3_Silent_p.P241P NM_024956 NP_079232 Q0P6H9 TMM62_HUMAN Homo sapiens transmembrane protein 62 (TMEM62), mRNA. 371 integral to membrane breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;4.23e-07) TGTCTGGTCCCATTTTCGTAC 0.378000 22 12 0 0 0.000978159 0 0 MED12 9968 broad.mit.edu 37 X 70356322 70356322 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chrX:70356322G>A uc004dyy.3 + 36 5416 c.5217G>A c.(5215-5217)ctG>ctA p.L1739L MED12_uc011mpq.1_Silent_p.L1739L|MED12_uc004dyz.3_Silent_p.L1739L|MED12_uc004dza.3_Silent_p.L1586L|MED12_uc010nla.3_Silent_p.L365L NM_005120 NP_005111 Q93074 MED12_HUMAN Homo sapiens mediator complex subunit 12 (MED12), mRNA. 1739 Interaction with CTNNB1 and GLI3.|Pro-rich. androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) CCTATTACCTGGAGCCACTGC 0.637000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 3 9 0 0 0.000442599 0 0 ZNF560 147741 broad.mit.edu 37 19 9579859 9579859 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:9579859C>T uc002mlp.1 - 8 744 c.534G>A c.(532-534)tgG>tgA p.W178* ZNF560_uc010dwr.1_Nonsense_Mutation_p.W72* NM_152476 NP_689689 Q96MR9 ZN560_HUMAN Homo sapiens zinc finger protein 560 (ZNF560), mRNA. 178 KRAB 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 GGCACATTTTCCATTCTGAAA 0.289000 8 10 0 0 0.000673444 0 0 DAGLA 747 broad.mit.edu 37 11 61504776 61504776 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:61504776C>T uc001nsa.3 + 13 1610 c.1494C>T c.(1492-1494)tcC>tcT p.S498S NM_006133 NP_006124 Q9Y4D2 DGLA_HUMAN Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA. 498 cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 43 READ - Rectum adenocarcinoma(4;0.219) TTGCCTACTCCCCGCCAGGGG 0.657000 105 70 0 0 0.000781405 0 0 KCNQ4 9132 broad.mit.edu 37 1 41283874 41283874 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:41283874C>T uc001cgh.2 + 2 526 c.444C>T c.(442-444)atC>atT p.I148I KCNQ4_uc001cgi.2_Silent_p.I148I NM_004700 NP_004691 P56696 KCNQ4_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 4 (KCNQ4), transcript variant 1, mRNA. 148 sensory perception of sound basal plasma membrane|voltage-gated potassium channel complex central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1) 26 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.38e-17) TGGAGTACATCGTCCGGGTCT 0.607000 56 25 0 0 0.000720815 0 0 DAGLA 747 broad.mit.edu 37 11 61511889 61511889 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:61511889C>T uc001nsa.3 + 19 3173 c.3057C>T c.(3055-3057)atC>atT p.I1019I NM_006133 NP_006124 Q9Y4D2 DGLA_HUMAN Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA. 1019 cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity p.I1019I(2) breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 43 READ - Rectum adenocarcinoma(4;0.219) CTGACAAGATCCGGACTTCTA 0.662000 22 17 0 0 0.00074312 0 0 SLC25A29 123096 broad.mit.edu 37 14 100758856 100758856 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr14:100758856G>A uc010twx.2 - 2 923 c.609C>T c.(607-609)ccC>ccT p.P203P SLC25A29_uc010avv.3_Missense_Mutation_p.P160S|SLC25A29_uc001yha.3_Missense_Mutation_p.P226S Q8N8R3 MCATL_HUMAN Homo sapiens solute carrier family 25, member 29 (SLC25A29), nuclear gene encoding mitochondrial protein, mRNA. 0 integral to membrane|mitochondrial inner membrane binding NS(1)|endometrium(1)|ovary(1) 3 Melanoma(154;0.152) L-Carnitine(DB00583) CGGTAGCGCGGGGCGCCCCGC 0.706000 4 5 0 0 0.00116845 0 0 NUCB1 4924 broad.mit.edu 37 19 49416361 49416361 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:49416361G>A uc002plb.4 + 5 908 c.574G>A c.(574-576)Gag>Aag p.E192K NUCB1_uc002pla.3_Missense_Mutation_p.E192K|Mir_324_uc021uxb.1_5'Flank NM_006184 NP_006175 Q02818 NUCB1_HUMAN Homo sapiens nucleobindin 1 (NUCB1), mRNA. 192 ER-Golgi intermediate compartment|Golgi apparatus|extracellular space|membrane|microtubule cytoskeleton DNA binding|calcium ion binding cervix(1)|endometrium(4)|large_intestine(4)|lung(8) 17 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244) GCGTTATCTGGAGTCACTGGG 0.597000 51 27 0 0 0.001512 0 0 SMYD1 150572 broad.mit.edu 37 2 88402627 88402627 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:88402627G>A uc002ssr.3 + 6 1024 c.939G>A c.(937-939)ttG>ttA p.L313L SMYD1_uc002ssq.2_Intron|SMYD1_uc002sss.3_Silent_p.L9L NM_198274 NP_938015 Q8NB12 SMYD1_HUMAN Homo sapiens SET and MYND domain containing 1 (SMYD1), mRNA. 313 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 AGGATACATTGGAAAAGATAG 0.458000 55 36 0 0 0.00148497 0 0 TTN 7273 broad.mit.edu 37 2 179590565 179590565 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:179590565G>A uc021vsy.1 - 66 16977 c.16752C>T c.(16750-16752)atC>atT p.I5584I TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.I2245I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 6511 Ig-like 36. 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) GGTATTCACCGATGTCTGAAG 0.388000 51 34 0 0 0.000953801 0 0 IL1R2 7850 broad.mit.edu 37 2 102638686 102638686 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:102638686C>T uc002tbm.3 + 5 955 c.726C>T c.(724-726)ccC>ccT p.P242P IL1R2_uc002tbn.3_Silent_p.P242P|IL1R2_uc002tbo.1_Silent_p.P242P NM_004633 NP_775465 P27930 IL1R2_HUMAN Homo sapiens interleukin 1 receptor, type II (IL1R2), transcript variant 1, mRNA. 242 Ig-like C2-type 3. immune response integral to membrane|plasma membrane interleukin-1, Type II, blocking receptor activity breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1) 28 Anakinra(DB00026) TCATTTCCCCCCTCAAGACCA 0.498000 110 40 0 0 0.00195071 0 0 AMBP 259 broad.mit.edu 37 9 116840465 116840465 + Silent SNP A G G TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr9:116840465A>G uc004bie.4 - 0 288 c.25T>C c.(25-27)Ttg>Ctg p.L9L AMBP_uc011lxk.2_5'Flank|AMBP_uc010mvc.1_Non-coding_Transcript NM_001633 NP_001624 P02760 AMBP_HUMAN Homo sapiens alpha-1-microglobulin/bikunin precursor (AMBP), mRNA. 9 cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of JNK cascade|negative regulation of immune response|protein-chromophore linkage extracellular region|plasma membrane IgA binding|calcium channel inhibitor activity|calcium oxalate binding|heme binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 11 Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064) CTCAGCAGCAAGAGCAGGGCC 0.617000 23 26 0 0 0.001512 0 0 TXNDC2 84203 broad.mit.edu 37 18 9887635 9887635 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr18:9887635G>A uc002koi.4 + 1 1608 c.1159G>A c.(1159-1161)Ggt>Agt p.G387S TXNDC2_uc002koh.4_Missense_Mutation_p.G320S|TXNDC2_uc021ugx.1_Missense_Mutation_p.G320S NM_001098529 NP_115619 Q86VQ3 TXND2_HUMAN Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA. 387 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 GCCCAAGGAGGGTGACATTCC 0.567000 32 18 0 0 0.00152264 0 0 SERPINB2 5055 broad.mit.edu 37 18 61564961 61564961 + Splice_Site SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr18:61564961G>A uc010xeu.2 + 6 751 c.418_splice c.e6-1 p.E140_splice SERPINB2_uc002ljo.3_Splice_Site_p.E140_splice|SERPINB2_uc002ljp.1_Splice_Site|SERPINB2_uc002ljq.1_Splice_Site NM_001143818 NP_002566 P05120 PAI2_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA. 140 anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis Golgi apparatus|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1) 32 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) TGCTTTAAAGGAATATATTCG 0.378000 36 21 0 0 0.000586117 0 0 CDH10 1008 broad.mit.edu 37 5 24505343 24505343 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr5:24505343C>T uc003jgr.2 - 7 1777 c.1271G>A c.(1270-1272)cGc>cAc p.R424H CDH10_uc011cnu.2_Intron NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA. 424 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) GTCAGTATGGCGATCCAAGGA 0.368000 HNSCC(23;0.051) 35 25 0 0 0.000720815 0 0 HEPH 9843 broad.mit.edu 37 X 65427071 65427071 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chrX:65427071C>T uc011moz.2 + 13 2625 c.2488C>T c.(2488-2490)Ctc>Ttc p.L830F HEPH_uc004dwn.3_Missense_Mutation_p.L779F|HEPH_uc004dwo.3_Missense_Mutation_p.L509F|HEPH_uc010nkr.3_Missense_Mutation_p.L587F|HEPH_uc011mpa.2_Missense_Mutation_p.L779F|HEPH_uc010nks.3_Missense_Mutation_p.L68F NM_138737 NP_055614 Q9BQS7 HEPH_HUMAN Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA. 776 Plastocyanin-like 5. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity p.A830V(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 CAAGGATGGGCTCCTGGGTTC 0.448000 8 18 0 0 0.00229938 0 0 XKR6 286046 broad.mit.edu 37 8 10756103 10756104 + Missense_Mutation DNP AG GA GA TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:10756103_10756104AG>GA uc003wtk.1 - 2 1311_1312 c.1284_1285CT>TC c.(1282-1287)ttctgc>ttTCgc p.C429R NM_173683 NP_775954 Q5GH73 XKR6_HUMAN Homo sapiens XK, Kell blood group complex subunit-related family, member 6 (XKR6), transcript variant 2, mRNA. 429 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3) 31 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) TTAAACCAGCAGAAAATGTACA 0.480000 19 14 0 0 6.4e-05 0 0 SON 6651 broad.mit.edu 37 21 34927526 34927526 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr21:34927526C>T uc002yse.1 + 2 6038 c.5989C>T c.(5989-5991)Cgc>Tgc p.R1997C SON_uc002ysb.1_Missense_Mutation_p.R1997C|SON_uc002ysc.3_Missense_Mutation_p.R1997C|SON_uc002ysd.3_Missense_Mutation_p.R988C|SON_uc002ysf.1_Intron|SON_uc002ysg.3_Missense_Mutation_p.R988C NM_138927 NP_620305 P18583 SON_HUMAN Homo sapiens SON DNA binding protein (SON), transcript variant f, mRNA. 1997 2 X 19 AA repeats of P-S-R-R-R-R-S-R-S-V- V-R-R-R-S-F-S-I-S. RNA splicing|anti-apoptosis|cytokinesis|mRNA processing|regulation of RNA splicing|regulation of cell cycle|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 caccccaagccgccgGAGAAG 0.642000 40 20 0 0 0.00152264 0 0 TTN 7273 broad.mit.edu 37 2 179474029 179474029 + Silent SNP G A A rs144507270 by1000genomes TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:179474029G>A uc021vsy.1 - 221 44529 c.44304C>T c.(44302-44304)gtC>gtT p.V14768V MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.V8463V|TTN_uc021vta.1_Silent_p.V8396V|TTN_uc021vtb.1_Silent_p.V8271V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 15695 Fibronectin type-III 6. 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) GAGAATCTCGGACGCGTAGCT 0.453000 25 11 0 0 0.000978159 0 0 WNK1 65125 broad.mit.edu 37 12 971408 971408 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:971408C>T uc021qss.1 + 7 2754 c.2111C>T c.(2110-2112)cCc>cTc p.P704L WNK1_uc001qio.4_Missense_Mutation_p.P704L|WNK1_uc021qst.1_Missense_Mutation_p.P704L|WNK1_uc001qip.4_Missense_Mutation_p.P704L|WNK1_uc001qir.4_Missense_Mutation_p.P151L NM_001184985 NP_001171914 Q9H4A3 WNK1_HUMAN Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA. 704 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) CAGTCTCAGCCCCATGGGGTA 0.433000 32 22 0 0 0.000720815 0 0 BSN 8927 broad.mit.edu 37 3 49689299 49689299 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:49689299C>T uc003cxe.4 + 4 2424 c.2310C>T c.(2308-2310)gcC>gcT p.A770A NM_003458 NP_003449 Q9UPA5 BSN_HUMAN Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA. 770 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CGCCTGAGGCCTTTGACTCTG 0.632000 7 13 0 0 0.00185496 0 0 DYSF 8291 broad.mit.edu 37 2 71895914 71895914 + Missense_Mutation SNP C T T rs145832952 TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:71895914C>T uc010fen.3 + 48 5629 c.5488C>T c.(5488-5490)Ccg>Tcg p.P1830S DYSF_uc010fei.3_Missense_Mutation_p.P1808S|DYSF_uc010feh.3_Missense_Mutation_p.P1798S|DYSF_uc002sig.4_Missense_Mutation_p.P1777S|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.P1822S|DYSF_uc010fee.3_Missense_Mutation_p.P1812S|DYSF_uc010fef.3_Missense_Mutation_p.P1829S|DYSF_uc002sie.3_Missense_Mutation_p.P1791S|DYSF_uc010feo.3_Missense_Mutation_p.P1823S|DYSF_uc010fej.3_Missense_Mutation_p.P1799S|DYSF_uc010fel.3_Missense_Mutation_p.P1778S|DYSF_uc010fem.3_Missense_Mutation_p.P1813S|DYSF_uc002sif.3_Missense_Mutation_p.P1792S|DYSF_uc010fek.3_Missense_Mutation_p.P1809S|DYSF_uc010yqy.2_Missense_Mutation_p.P672S|DYSF_uc010yqz.2_Missense_Mutation_p.P552S NM_001130987 NP_001124459 O75923 DYSF_HUMAN Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA. 1791 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding p.P1791S(1) autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 CGACCTATTTCCGAAGGCCCT 0.617000 8 7 0 0 0.00198382 0 0 GPX5 2880 broad.mit.edu 37 6 28500198 28500198 + Splice_Site SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr6:28500198G>A uc003nll.2 + 4 461 c.459_splice c.e4+1 p.K153_splice GPX5_uc003nlm.2_Splice_Site|GPX5_uc003nln.2_Splice_Site NM_001509 NP_001500 O75715 GPX5_HUMAN Homo sapiens glutathione peroxidase 5 (epididymal androgen-related protein) (GPX5), transcript variant 1, mRNA. 153 lipid metabolic process|response to oxidative stress extracellular region glutathione peroxidase activity endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Glutathione(DB00143) TTTCTTGAAGGTGAGTAAATT 0.453000 23 9 0 0 0.000442599 0 0 PPHLN1 51535 broad.mit.edu 37 12 42839994 42839994 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:42839994C>T uc001rng.1 + 11 1357 c.1252C>T c.(1252-1254)Cag>Tag p.Q418* PPHLN1_uc010skr.1_3'UTR|PPHLN1_uc010sks.1_Nonsense_Mutation_p.Q369*|PPHLN1_uc010skt.1_Nonsense_Mutation_p.Q323*|PPHLN1_uc001rni.1_Nonsense_Mutation_p.Q394*|PPHLN1_uc001rnh.1_Non-coding_Transcript|PPHLN1_uc010sku.1_Intron NM_016488 NP_057572 Q8NEY8 PPHLN_HUMAN Homo sapiens periphilin 1 (PPHLN1), transcript variant 1, mRNA. 418 keratinization cytoplasm|nucleus breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 16 all_cancers(12;0.00049)|Breast(8;0.165) Lung NSC(34;0.123) GBM - Glioblastoma multiforme(48;0.0875) gaagacaactcaggaggctga 0.547000 5 4 0 0 0.00024832 0 0 MYO18B 84700 broad.mit.edu 37 22 26165122 26165122 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr22:26165122G>A uc003abz.1 + 3 1489 c.1239G>A c.(1237-1239)gaG>gaA p.E413E MYO18B_uc003aca.1_Silent_p.E294E|MYO18B_uc010guy.1_Silent_p.E294E|MYO18B_uc010guz.1_Silent_p.E294E|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN Homo sapiens myosin XVIIIB (MYO18B), mRNA. 413 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 GTCAGACAGAGAAGGGCTGTG 0.612000 13 4 0 0 0.00024832 0 0 BC039356 0 broad.mit.edu 37 1 227618339 227618339 + RNA SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:227618339C>T uc001hqv.3 + 3 c.1574C>T Homo sapiens cDNA clone IMAGE:5270051. GGCTGTGGGTCGAAGATATGC 0.502000 26 12 0 0 0.00244969 0 0 MARK3 4140 broad.mit.edu 37 14 103932026 103932026 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr14:103932026C>T uc001ymz.4 + 7 1339 c.673C>T c.(673-675)Cag>Tag p.Q225* MARK3_uc001ymx.4_Nonsense_Mutation_p.Q225*|MARK3_uc001ymw.4_Nonsense_Mutation_p.Q225*|MARK3_uc001yna.4_Nonsense_Mutation_p.Q225*|MARK3_uc001ymy.4_Intron|MARK3_uc010awp.3_Nonsense_Mutation_p.Q248*|MARK3_uc010tyb.2_Nonsense_Mutation_p.Q36*|MARK3_uc021sef.1_Nonsense_Mutation_p.Q36* NM_001128918 NP_001122390 P27448 MARK3_HUMAN Homo sapiens MAP/microtubule affinity-regulating kinase 3 (MARK3), transcript variant 1, mRNA. 225 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 Melanoma(154;0.155) Epithelial(46;0.241) TGAGCTCTTCCAGGGCAAGAA 0.468000 93 8 0 0 0.000442599 0 0 PRUNE2 158471 broad.mit.edu 37 9 79325114 79325114 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr9:79325114G>A uc010mpk.3 - 7 2200 c.2076C>T c.(2074-2076)agC>agT p.S692S PRUNE2_uc022bih.1_Silent_p.S514S NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA. 692 G1 phase|apoptosis|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 TATCAATGGAGCTTGGCTTAT 0.448000 5 6 0 0 0.00116845 0 0 SCN11A 11280 broad.mit.edu 37 3 38888196 38888196 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:38888196G>A uc021wvy.1 - 25 5564 c.5365C>T c.(5365-5367)Cac>Tac p.H1789Y NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA. 1789 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CAGTCACAGTGGACCTTGCCC 0.547000 19 20 0 0 0.00278032 0 0 POM121L12 285877 broad.mit.edu 37 7 53104225 53104225 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:53104225C>T uc003tpz.3 + 0 877 c.861C>T c.(859-861)gtC>gtT p.V287V NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA. 287 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CCCTCGAGGTCACCCAGTCTG 0.622000 30 15 0 0 0.00074312 0 0 BRD1 23774 broad.mit.edu 37 22 50169268 50169268 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr22:50169268G>A uc011arg.2 - 11 3125 c.3111C>T c.(3109-3111)ctC>ctT p.L1037L BRD1_uc011arf.2_Silent_p.L714L|BRD1_uc021wrv.1_Non-coding_Transcript|BRD1_uc003biv.3_Silent_p.L988L|BRD1_uc021wrw.1_Non-coding_Transcript|BRD1_uc003biu.4_Silent_p.L1119L NM_014577 NP_055392 O95696 BRD1_HUMAN Homo sapiens bromodomain containing 1 (BRD1), mRNA. 988 histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 37 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) AAAAGAGAACGAGGAACAGCT 0.587000 97 68 0 0 0.000781405 0 0 RALYL 138046 broad.mit.edu 37 8 85774565 85774565 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:85774565C>T uc003yct.4 + 5 621 c.487C>T c.(487-489)Ccc>Tcc p.P163S RALYL_uc003ycq.4_Missense_Mutation_p.P150S|RALYL_uc003ycr.4_Missense_Mutation_p.P150S|RALYL_uc003ycs.4_Missense_Mutation_p.P150S|RALYL_uc010lzy.3_Missense_Mutation_p.P139S|RALYL_uc003ycu.4_Missense_Mutation_p.P77S NM_001100391 NP_776247 Q86SE5 RALYL_HUMAN Homo sapiens RALY RNA binding protein-like (RALYL), transcript variant 1, mRNA. 150 RNA binding|identical protein binding|nucleotide binding endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1) 24 GCCTCCACCTCCCCGTGCAGT 0.493000 13 4 0 0 0.00024832 0 0 LRTM1 57408 broad.mit.edu 37 3 54952869 54952869 + Nonsense_Mutation SNP T A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:54952869T>A uc003dhl.3 - 2 789 c.655A>T c.(655-657)Aag>Tag p.K219* CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron NM_020678 NP_065729 Q9HBL6 LRTM1_HUMAN Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA. 219 LRRCT. integral to membrane breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4) 21 KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502) AGGAGGTCCTTTCCCTTCCAG 0.527000 6 12 0 0 0.000978159 0 0 PYGM 5837 broad.mit.edu 37 11 64525338 64525338 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:64525338C>T uc001oax.4 - 4 1390 c.573G>A c.(571-573)gaG>gaA p.E191E PYGM_uc001oay.4_Silent_p.E103E NM_005609 NP_005600 P11217 PYGM_HUMAN Homo sapiens phosphorylase, glycogen, muscle (PYGM), transcript variant 1, mRNA. 191 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Pyridoxal Phosphate(DB00114) GCCGGGCCTTCTCCCAGGGGT 0.612000 33 12 0 0 0.000308642 0 0 USP50 373509 broad.mit.edu 37 15 50830987 50830987 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr15:50830987G>A uc021sky.1 - 4 902 c.722C>T c.(721-723)tCc>tTc p.S241F USP50_uc021skx.1_Missense_Mutation_p.S143F NM_203494 NP_987090 E9PP86 E9PP86_HUMAN Homo sapiens ubiquitin specific peptidase 50 (USP50), mRNA. 241 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5) 13 all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288) TTCACAAAAGGAGCAGTGAAT 0.373000 23 24 0 0 0.000720815 0 0 CCDC132 55610 broad.mit.edu 37 7 92978050 92978050 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:92978050C>T uc003umo.3 + 23 2363 c.2235C>T c.(2233-2235)ttC>ttT p.F745F CCDC132_uc003ump.3_Silent_p.F715F|CCDC132_uc003umr.3_Non-coding_Transcript|CCDC132_uc011khz.2_Silent_p.F465F NM_017667 NP_060137 Q96JG6 CC132_HUMAN Homo sapiens coiled-coil domain containing 132 (CCDC132), transcript variant 1, mRNA. 745 endometrium(1)|large_intestine(2)|lung(5) 8 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) AGTTTGAGTTCCTTCAGCCAC 0.413000 72 31 0 0 0.000692331 0 0 ERC2 26059 broad.mit.edu 37 3 56468884 56468884 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:56468884G>A uc021wzo.1 - 0 292 c.152C>T c.(151-153)tCc>tTc p.S51F ERC2_uc003dhr.1_Missense_Mutation_p.S51F NM_015576 NP_056391 O15083 ERC2_HUMAN Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA. 51 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) TGCATTGAGGGACTGGATATT 0.532000 36 26 0 0 0.000878237 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20896269 20896269 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:20896269C>T uc010sii.2 + 13 2119 c.1764C>T c.(1762-1764)gcC>gcT p.A588A SLCO1C1_uc010sij.2_Silent_p.A539A|SLCO1C1_uc009zip.3_Silent_p.A422A|SLCO1C1_uc001rei.3_Silent_p.A588A|SLCO1C1_uc010sik.2_Silent_p.A470A NM_001145946 NP_001139416 Q9NYB5 SO1C1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA. 588 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) AGTCTTTTGCCTTGGGTATCT 0.308000 140 71 0 0 0.000781405 0 0 SLC12A9 56996 broad.mit.edu 37 7 100460418 100460419 + Missense_Mutation DNP GG AA AA TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:100460418_100460419GG>AA uc003uwp.3 + 12 1969_1970 c.1827_1828GG>AA c.(1825-1830)ggggct>ggAAct p.A610T SLC12A9_uc003uwq.3_Missense_Mutation_p.A521T|SLC12A9_uc011kki.2_Missense_Mutation_p.A141T|SLC12A9_uc003uwr.3_Missense_Mutation_p.A346T|SLC12A9_uc003uws.3_Missense_Mutation_p.A141T|SLC12A9_uc003uwt.3_Missense_Mutation_p.A346T|SLC12A9_uc003uwv.3_Missense_Mutation_p.A141T NM_020246 NP_064631 Q9BXP2 S12A9_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 9 (SLC12A9), mRNA. 610 integral to membrane|plasma membrane cation:chloride symporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 41 Lung NSC(181;0.041)|all_lung(186;0.0581) TGCGCCAGGGGGCTCAGCATCT 0.634000 52 20 0 0 6.4e-05 0 0 MYO5C 55930 broad.mit.edu 37 15 52497127 52497127 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr15:52497127C>T uc010bff.3 - 37 4917 c.4755G>A c.(4753-4755)gcG>gcA p.A1585A MYO5C_uc010uga.2_Non-coding_Transcript|AF007131_uc002abv.3_Non-coding_Transcript NM_018728 NP_061198 Q9NQX4 MYO5C_HUMAN Homo sapiens myosin VC (MYO5C), mRNA. 1585 Dilute. myosin complex ATP binding|actin binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) TCAGCGTGACCGCCCCGATCA 0.577000 15 7 0 0 0.00198382 0 0 P2RX6 9127 broad.mit.edu 37 22 21377663 21377663 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr22:21377663C>T uc010gsu.1 + 6 738 c.738C>T c.(736-738)ctC>ctT p.L246L P2RX6_uc002ztz.2_Silent_p.L220L|P2RX6_uc002zua.2_Non-coding_Transcript|P2RX6_uc002zuc.1_Non-coding_Transcript NM_005446 NP_005437 O15547 P2RX6_HUMAN Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 6 (P2RX6), transcript variant 1, mRNA. 246 muscle contraction|protein homooligomerization cell junction|cytoplasm|integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity TTGGGGACCTCGTGGCCAAGG 0.627000 31 16 0 0 0.000566183 0 0 VPS13C 54832 broad.mit.edu 37 15 62241655 62241655 + Silent SNP G A A rs80151244 byFrequency TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr15:62241655G>A uc002agz.3 - 41 4837 c.4746C>T c.(4744-4746)atC>atT p.I1582I VPS13C_uc002aha.3_Silent_p.I1539I|VPS13C_uc002ahb.2_Silent_p.I1582I|VPS13C_uc002ahc.2_Silent_p.I1539I NM_020821 NP_065872 Q709C8 VP13C_HUMAN Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA. 1582 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 CTTTGACAGCGATACTTCTGG 0.348000 63 38 0 0 0.00128727 0 0 TDRD5 163589 broad.mit.edu 37 1 179631372 179631372 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:179631372G>A uc010pnp.2 + 14 2974 c.2456G>A c.(2455-2457)aGc>aAc p.S819N TDRD5_uc021pfm.1_Missense_Mutation_p.S765N|TDRD5_uc001gnf.2_Missense_Mutation_p.S765N|TDRD5_uc021pfn.1_Missense_Mutation_p.S819N|TDRD5_uc001gnh.2_Missense_Mutation_p.S320N NM_001199085 NP_001186014 Q8NAT2 TDRD5_HUMAN Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA. 810 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding p.Q818*(1) NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 TTTACTGCAAGCCTTGGTGGA 0.448000 43 9 0 0 0.000978159 0 0 KDM3A 55818 broad.mit.edu 37 2 86711263 86711263 + Nonsense_Mutation SNP G T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:86711263G>T uc002sri.4 + 18 3403 c.3076G>T c.(3076-3078)Gga>Tga p.G1026* KDM3A_uc010ytj.2_Nonsense_Mutation_p.G1026*|KDM3A_uc010ytk.2_Nonsense_Mutation_p.G974* NM_018433 NP_060903 Q9Y4C1 KDM3A_HUMAN Homo sapiens lysine (K)-specific demethylase 3A (KDM3A), transcript variant 1, mRNA. 1026 androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 47 CTTCTGGGATGGATTTGAAGA 0.453000 22 25 1.96895e-08 7.8786e-08 0.00278032 1 0 POU4F2 5458 broad.mit.edu 37 4 147561591 147561591 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr4:147561591G>A uc003ikv.3 + 1 1109 c.861G>A c.(859-861)aaG>aaA p.K287K NM_004575 NP_004566 Q12837 PO4F2_HUMAN Homo sapiens POU class 4 homeobox 2 (POU4F2), mRNA. 287 POU-specific. MAPKKK cascade|estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) CCAACCTCAAGATCCCCGGCG 0.627000 23 8 0 0 0.000442599 0 0 NAALAD2 10003 broad.mit.edu 37 11 89868809 89868809 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:89868809G>A uc001pdf.4 + 1 274 c.165G>A c.(163-165)atG>atA p.M55I NAALAD2_uc009yvx.3_Missense_Mutation_p.M55I|NAALAD2_uc009yvy.3_Missense_Mutation_p.M55I|NAALAD2_uc001pdd.2_Missense_Mutation_p.M55I|NAALAD2_uc001pde.3_Missense_Mutation_p.M55I NM_005467 NP_005458 Q9Y3Q0 NALD2_HUMAN Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA. 55 proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2) 59 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) TATCCGAAATGAAAGCTGAAA 0.328000 47 31 0 0 0.000692331 0 0 OR5F1 338674 broad.mit.edu 37 11 55761613 55761613 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:55761613G>A uc010riv.2 - 0 489 c.489C>T c.(487-489)gtC>gtT p.V163V NM_003697 NP_003688 O95221 OR5F1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA. 163 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 58 Esophageal squamous(21;0.00448) ACAAGCTGCTGACATGGCTTG 0.473000 49 34 0 0 0.000692331 0 0 RP11-165H20.1 149620 broad.mit.edu 37 1 111825284 111825284 + RNA SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:111825284G>A uc009wgb.3 + 2 c.1047G>A Homo sapiens CHIA-like pseudogene (RP11-165H20.1), non-coding RNA. TGACGGGCTGGACTTTGACTG 0.517000 25 22 0 0 0.00047179 0 0 ZNF804B 219578 broad.mit.edu 37 7 88965621 88965621 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:88965621C>T uc011khi.2 + 3 3863 c.3325C>T c.(3325-3327)Cat>Tat p.H1109Y NM_181646 NP_857597 A4D1E1 Z804B_HUMAN Homo sapiens zinc finger protein 804B (ZNF804B), mRNA. 1109 intracellular zinc ion binding p.H1109Y(2) NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) GCATATAAATCATGTAGAGGG 0.368000 HNSCC(36;0.09) 38 19 0 0 0.00121646 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79059832 79059832 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr15:79059832C>T uc002bej.4 - 17 2959 c.2748G>A c.(2746-2748)caG>caA p.Q916Q ADAMTS7_uc010und.1_Intron NM_014272 NP_055087 Q9UKP4 ATS7_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA. 916 TSP type-1 3. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 CCAGGGCGCTCTGCTCATCCA 0.706000 15 8 0 0 0.000274275 0 0 SLC36A1 206358 broad.mit.edu 37 5 150838400 150838400 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr5:150838400C>T uc003luc.3 + 1 264 c.47C>T c.(46-48)tCc>tTc p.S16F SLC36A1_uc003lub.1_Missense_Mutation_p.S16F|SLC36A1_uc010jhw.1_Missense_Mutation_p.S16F NM_078483 NP_510968 Q7Z2H8 S36A1_HUMAN Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 1 (SLC36A1), mRNA. 16 cellular nitrogen compound metabolic process|ion transport endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1) 25 Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Glycine(DB00145)|L-Alanine(DB00160) GACTACAGCTCCACGGACGTG 0.592000 8 27 0 0 0.000586117 0 0 STON2 85439 broad.mit.edu 37 14 81736942 81736942 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr14:81736942G>A uc010tvu.2 - 4 2883 c.2685C>T c.(2683-2685)ttC>ttT p.F895F STON2_uc001xvk.1_Intron|STON2_uc010tvt.2_Silent_p.F692F NM_033104 NP_149095 Q8WXE9 STON2_HUMAN Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA. 895 endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5) 34 BRCA - Breast invasive adenocarcinoma(234;0.0348) TGGCTAAAAGGAATAAGAGGG 0.468000 70 48 0 0 0.000781405 0 0 FMN2 56776 broad.mit.edu 37 1 240371478 240371478 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:240371478C>T uc010pye.2 + 5 3603 c.3378C>T c.(3376-3378)ccC>ccT p.P1126P FMN2_uc010pyd.2_Silent_p.P1122P NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN Homo sapiens formin 2 (FMN2), mRNA. 1122 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CCCCTCCTCCCCCTCTACCCG 0.721000 6 8 0 0 0.00136819 0 0 ADAM2 2515 broad.mit.edu 37 8 39624518 39624518 + Nonsense_Mutation SNP G T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:39624518G>T uc003xnj.3 - 13 1431 c.1356C>A c.(1354-1356)tgC>tgA p.C452* ADAM2_uc003xnk.3_Nonsense_Mutation_p.C433*|ADAM2_uc011lck.2_Nonsense_Mutation_p.C452*|ADAM2_uc003xnl.3_Nonsense_Mutation_p.C326* NM_001464 NP_001455 Q99965 ADAM2_HUMAN Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA. 452 Disintegrin. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding p.E451*(1) haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) CAGGGAGGTCGCATTCTTCAA 0.398000 66 35 2.75727e-19 1.11122e-18 0.000953801 1 0 FLG2 388698 broad.mit.edu 37 1 152325386 152325386 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:152325386C>T uc001ezw.4 - 2 4949 c.4876G>A c.(4876-4878)Gat>Aat p.D1626N AK056431_uc001ezv.3_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN Homo sapiens filaggrin family member 2 (FLG2), mRNA. 1626 calcium ion binding|structural molecule activity p.G1625R(1) NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCAGTGGTATCTCCTATCTGT 0.507000 133 101 0 0 0.000781405 0 0 PCLO 27445 broad.mit.edu 37 7 82453723 82453723 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:82453723C>T uc003uhx.2 - 18 14714 c.14425G>A c.(14425-14427)Gat>Aat p.D4809N PCLO_uc003uhv.2_Missense_Mutation_p.D4809N|PCLO_uc003uht.1_Missense_Mutation_p.D251N|PCLO_uc003uhu.1_Missense_Mutation_p.D230N NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 4671 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CTAGATAAATCAATCAATACC 0.328000 38 23 0 0 0.00047179 0 0 SLFN12 55106 broad.mit.edu 37 17 33738894 33738894 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr17:33738894G>A uc002hji.4 - 3 1577 c.1200C>T c.(1198-1200)ttC>ttT p.F400F SLFN12_uc002hjj.4_Silent_p.F400F|SLFN12_uc010cts.3_Silent_p.F400F NM_018042 NP_060512 Q8IYM2 SLN12_HUMAN Homo sapiens schlafen family member 12 (SLFN12), mRNA. 400 ATP binding breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CATGTTGTAAGAACAGTTTTC 0.378000 31 49 0 0 0.000781405 0 0 CHRM2 1129 broad.mit.edu 37 7 136700475 136700475 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:136700475C>T uc003vtf.1 + 3 1486 c.863C>T c.(862-864)tCa>tTa p.S288L CHRM2_uc003vtg.1_Missense_Mutation_p.S288L|CHRM2_uc003vti.1_Missense_Mutation_p.S288L|CHRM2_uc003vtm.1_Missense_Mutation_p.S288L|CHRM2_uc003vtj.1_Missense_Mutation_p.S288L|CHRM2_uc003vtk.1_Missense_Mutation_p.S288L|CHRM2_uc003vtl.1_Missense_Mutation_p.S288L|CHRM2_uc003vtn.1_Missense_Mutation_p.S288L|CHRM2_uc003vto.1_Missense_Mutation_p.S288L|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Missense_Mutation_p.S288L NM_001006630 NP_001006633 P08172 ACM2_HUMAN Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA. 288 G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) GACTCCACCTCAGTCAGTGCT 0.478000 42 29 0 0 0.00178596 0 0 ALDH2 217 broad.mit.edu 37 12 112219760 112219760 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:112219760G>A uc001tst.3 + 1 249 c.153G>A c.(151-153)agG>agA p.R51R ALDH2_uc010syi.2_Silent_p.R51R NM_000690 NP_000681 P05091 ALDH2_HUMAN Homo sapiens aldehyde dehydrogenase 2 family (mitochondrial) (ALDH2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 51 carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process mitochondrial matrix aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity p.R51K(1) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1) 22 Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727) CCGTCAGCAGGAAAACATTCC 0.483000 T HMGA2 leiomyoma 15 37 0 0 0.00222228 0 0 MARK1 4139 broad.mit.edu 37 1 220789325 220789325 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:220789325C>T uc009xdw.3 + 6 1137 c.540C>T c.(538-540)caC>caT p.H180H MARK1_uc001hmn.4_Silent_p.H180H|MARK1_uc010pun.2_Silent_p.H180H|MARK1_uc001hmm.4_Silent_p.H158H NM_018650 NP_061120 Q9P0L2 MARK1_HUMAN Homo sapiens MAP/microtubule affinity-regulating kinase 1 (MARK1), mRNA. 180 Protein kinase. intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1) 63 GBM - Glioblastoma multiforme(131;0.0407) ACATTGTTCACCGTGATCTTA 0.259000 91 38 0 0 0.0025221 0 0 HOXA1 3198 broad.mit.edu 37 7 27135367 27135367 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:27135367C>T uc003sye.3 - 0 259 c.165G>A c.(163-165)gtG>gtA p.V55V HOXA1_uc003syd.3_Silent_p.V55V|HOXA1_uc022aao.1_Silent_p.V55V|HOTAIRM1_uc003syg.3_5'Flank|HOTAIRM1_uc022aap.1_5'Flank NM_005522 NP_005513 P49639 HXA1_HUMAN Homo sapiens homeobox A1 (HOXA1), transcript variant 1, mRNA. 55 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 CCCCCCTGCCCACTAGGAAGC 0.662000 OREG0003750 type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 37 11 0 0 0.000978159 0 0 ZZEF1 23140 broad.mit.edu 37 17 3947590 3947590 + Missense_Mutation SNP A T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr17:3947590A>T uc002fxe.3 - 37 6158 c.6094T>A c.(6094-6096)Tcg>Acg p.S2032T ZZEF1_uc002fxh.3_Missense_Mutation_p.S346T|ZZEF1_uc002fxi.3_Missense_Mutation_p.S267T|ZZEF1_uc002fxj.1_Missense_Mutation_p.S645T NM_015113 NP_055928 O43149 ZZEF1_HUMAN Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA. 2032 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 GGATCCTTCGATAATGATACA 0.393000 20 25 0 0 0.000720815 0 0 MGAM 8972 broad.mit.edu 37 7 141762434 141762434 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:141762434G>A uc003vwy.3 + 34 4243 c.4189G>A c.(4189-4191)Gaa>Aaa p.E1397K NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 1397 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GTGGAAGAGGGAAATAGAAGA 0.408000 18 15 0 0 0.00047179 0 0 CYP4Z2P 163720 broad.mit.edu 37 1 47333652 47333652 + RNA SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:47333652C>T uc001cqo.1 - 7 c.1075G>A CYP4Z2P_uc009vyn.1_Non-coding_Transcript Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA. TAGGAGTTCCCTGATTTCATC 0.428000 13 4 0 0 0.000602214 0 0 PTPRB 5787 broad.mit.edu 37 12 70990070 70990070 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:70990070C>T uc001swb.4 - 2 393 c.363G>A c.(361-363)gaG>gaA p.E121E PTPRB_uc010sto.2_Silent_p.E121E|PTPRB_uc010stp.2_Silent_p.E121E|PTPRB_uc001swc.4_Silent_p.E339E|PTPRB_uc001swa.4_Silent_p.E339E|PTPRB_uc001swd.4_Silent_p.E338E|PTPRB_uc009zrr.2_Silent_p.E218E|PTPRB_uc001swe.3_Silent_p.E339E NM_002837 NP_002828 P23467 PTPRB_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA. 121 Fibronectin type-III 2. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) AAGTCGTCTTCTCTTTACTGA 0.373000 14 30 0 0 0.00106085 0 0 KIF13A 63971 broad.mit.edu 37 6 17817358 17817358 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr6:17817358G>A uc003ncg.4 - 16 2053 c.1893C>T c.(1891-1893)ctC>ctT p.L631L KIF13A_uc003ncf.3_Silent_p.L631L|KIF13A_uc003nch.4_Silent_p.L631L|KIF13A_uc003nci.4_Silent_p.L631L|KIF13A_uc003ncj.3_Silent_p.L307L NM_022113 NP_071396 Q9H1H9 KI13A_HUMAN Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA. 631 Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) GCTGCTGGCGGAGTTGCTCCA 0.587000 26 17 0 0 0.000566183 0 0 ART5 116969 broad.mit.edu 37 11 3661430 3661430 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:3661430C>T uc001lyb.1 - 1 622 c.229G>A c.(229-231)Gac>Aac p.D77N ART5_uc001lyc.1_Missense_Mutation_p.D77N|ART5_uc001lyd.3_Missense_Mutation_p.D77N|ART5_uc009yea.3_Missense_Mutation_p.D77N NM_053017 NP_443750 Q96L15 NAR5_HUMAN Homo sapiens ADP-ribosyltransferase 5 (ART5), transcript variant 1, mRNA. 77 extracellular region NAD(P)+-protein-arginine ADP-ribosyltransferase activity breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1) 11 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19) CGACGCTTGTCCTCCCAGGTC 0.577000 19 18 0 0 0.00121646 0 0 BEST3 144453 broad.mit.edu 37 12 70087528 70087528 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:70087528G>A uc001svg.3 - 3 634 c.407C>T c.(406-408)tCc>tTc p.S136F BEST3_uc001svd.2_Missense_Mutation_p.S136F|BEST3_uc010stm.2_Missense_Mutation_p.S30F|BEST3_uc001svi.1_Non-coding_Transcript NM_032735 NP_116124 Q8N1M1 BEST3_HUMAN Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA. 136 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) GATGAGCAGGGAGGTGAGATT 0.522000 35 55 0 0 0.000781405 0 0 TTC17 55761 broad.mit.edu 37 11 43469611 43469611 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:43469611C>T uc001mxi.3 + 18 2795 c.2725C>T c.(2725-2727)Cgc>Tgc p.R909C TTC17_uc010rfj.2_Missense_Mutation_p.R909C|TTC17_uc001mxl.3_5'Flank NM_018259 NP_060729 Q96AE7 TTC17_HUMAN Homo sapiens tetratricopeptide repeat domain 17 (TTC17), mRNA. 909 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3) 53 CCTCAAACTCCGCTGGGTAGA 0.483000 25 20 0 0 0.000958276 0 0 CNTN2 6900 broad.mit.edu 37 1 205027462 205027462 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:205027462G>A uc001hbr.3 + 3 638 c.369G>A c.(367-369)agG>agA p.R123R CNTN2_uc001hbq.1_5'UTR|CNTN2_uc009xbi.3_5'UTR|CNTN2_uc001hbs.3_5'Flank NM_005076 NP_005067 Q02246 CNTN2_HUMAN Homo sapiens contactin 2 (axonal) (CNTN2), mRNA. 123 Ig-like C2-type 1. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 54 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) TTGTCAGCAGGGAGGCCATCC 0.627000 23 15 0 0 0.000422831 0 0 MGAM 8972 broad.mit.edu 37 7 141719039 141719039 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:141719039G>A uc003vwy.3 + 3 422 c.368G>A c.(367-369)gGa>gAa p.G123E NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 123 P-type 1. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity p.G123E(4) cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) AATCCCCAGGGAGCTGTAAGT 0.453000 81 44 0 0 0.000680045 0 0 COLQ 8292 broad.mit.edu 37 3 15498005 15498005 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:15498005G>A uc003bzx.3 - 13 1162 c.1036C>T c.(1036-1038)Ctg>Ttg p.L346L COLQ_uc003bzv.3_Silent_p.L336L|COLQ_uc010heo.3_Silent_p.L312L|COLQ_uc003cad.1_Non-coding_Transcript|COLQ_uc003cae.1_Silent_p.L205L NM_005677 NP_005668 Q9Y215 COLQ_HUMAN Homo sapiens collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase (COLQ), transcript variant I, mRNA. 346 acetylcholine catabolic process in synaptic cleft|asymmetric protein localization basal lamina|cell junction|collagen|extracellular space|synaptic cleft endometrium(2)|large_intestine(4)|lung(10)|skin(3) 19 TTGAAGTACAGAGATCTCTGG 0.537000 15 25 0 0 0.001512 0 0 DEPDC1 55635 broad.mit.edu 37 1 68955286 68955286 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:68955286G>A uc001dem.4 - 2 437 c.320C>T c.(319-321)cCt>cTt p.P107L DEPDC1_uc001dek.4_Non-coding_Transcript|DEPDC1_uc001del.4_Missense_Mutation_p.P107L NM_001114120 NP_001107592 Q5TB30 DEP1A_HUMAN Homo sapiens DEP domain containing 1 (DEPDC1), transcript variant 1, mRNA. 107 DEP. intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex GTPase activator activity|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(397;7.21e-36) CGAAGTTGCAGGAAATCTGGT 0.289000 46 20 0 0 0.00152264 0 0 OR13C4 138804 broad.mit.edu 37 9 107289416 107289416 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr9:107289416G>A uc011lvn.2 - 0 75 c.75C>T c.(73-75)atC>atT p.I25I NM_001001919 NP_001001919 Q8NGS5 O13C4_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA. 25 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(2)|lung(14)|skin(1) 18 CAAAGAAAATGATCTCAAGTT 0.418000 9 26 0 0 0.000586117 0 0 PLRG1 5356 broad.mit.edu 37 4 155461993 155461993 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr4:155461993G>A uc003iny.3 - 8 906 c.781C>T c.(781-783)Ctg>Ttg p.L261L PLRG1_uc003inz.3_Silent_p.L252L|PLRG1_uc011cil.2_Silent_p.L100L NM_002669 NP_002660 O43660 PLRG1_HUMAN Homo sapiens pleiotropic regulator 1 (PLRG1), transcript variant 1, mRNA. 261 catalytic step 2 spliceosome|nuclear speck protein binding|signal transducer activity|transcription corepressor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1) 22 all_hematologic(180;0.215) Renal(120;0.0854) CAAGAGAACAGATATGGGCTC 0.403000 59 30 0 0 0.00209593 0 0 SALL1 6299 broad.mit.edu 37 16 51174411 51174411 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr16:51174411C>T uc021tif.1 - 1 1753 c.1431G>A c.(1429-1431)gaG>gaA p.E477E SALL1_uc021tid.1_Silent_p.E477E|SALL1_uc021tie.1_Silent_p.E574E|SALL1_uc010cbv.3_Intron NM_001127892 NP_001121364 Q9NSC2 SALL1_HUMAN Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA. 574 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) TGGGGGCTGGCTCTTCCGTCT 0.612000 28 16 0 0 0.000566183 0 0 XIST 7503 broad.mit.edu 37 X 73064337 73064337 + RNA SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chrX:73064337G>A uc004ebm.1 - 0 c.8252C>T Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA. ATTCAAATAGGATAAGCCATG 0.428000 6 27 0 0 0.00127121 0 0 ZNF425 155054 broad.mit.edu 37 7 148802061 148802061 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:148802061G>A uc003wfj.3 - 3 1035 c.902C>T c.(901-903)cCg>cTg p.P301L NM_001001661 NP_001001661 Q6IV72 ZN425_HUMAN Homo sapiens zinc finger protein 425 (ZNF425), mRNA. 301 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 50 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) GCAGCAGAACGGCCGCTCCCC 0.672000 19 10 0 0 0.000673444 0 0 POTEF 728378 broad.mit.edu 37 2 130832816 130832816 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:130832816C>T uc010fmh.2 - 16 2629 c.2229G>A c.(2227-2229)atG>atA p.M743I NM_001099771 NP_001093241 A5A3E0 POTEF_HUMAN Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA. 743 Actin-like. cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 TGCCCCCCATCATGCCCTGCT 0.617000 33 20 0 0 0.00106085 0 0 PVRIG 79037 broad.mit.edu 37 7 99818436 99818436 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:99818436G>A uc003uue.2 + 5 1022 c.650G>A c.(649-651)cGa>cAa p.R217Q GATS_uc010lgt.3_Intron|GATS_uc003uty.4_Intron|GATS_uc003utz.4_Intron|GATS_uc003uua.4_Intron|GATS_uc011kjl.2_Intron|GATS_uc010lgu.2_Intron|PVRIG_uc003uuf.1_Missense_Mutation_p.R217Q NM_024070 NP_076975 Q6DKI7 PVRIG_HUMAN Homo sapiens poliovirus receptor related immunoglobulin domain containing (PVRIG), mRNA. 217 integral to membrane breast(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2) 11 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CCGAGAGCACGAGCATGGGTG 0.677000 14 14 0 0 0.00185496 0 0 DHX34 9704 broad.mit.edu 37 19 47856776 47856776 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:47856776C>T uc010xyn.2 + 1 838 c.489C>T c.(487-489)ccC>ccT p.P163P DHX34_uc010elc.1_Silent_p.P163P NM_014681 NP_055496 Q14147 DHX34_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA. 163 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) CAGCCCTCCCCATCGCCCAGT 0.647000 36 21 0 0 0.00278032 0 0 UBR4 23352 broad.mit.edu 37 1 19443892 19443892 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:19443892G>A uc001bbi.3 - 72 10650 c.10646C>T c.(10645-10647)tCc>tTc p.S3549F UBR4_uc001bbj.1_5'UTR NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA. 3549 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) CACTTTAATGGAAGACAGCTT 0.423000 50 32 0 0 0.000692331 0 0 DRD5 1816 broad.mit.edu 37 4 9784439 9784440 + Missense_Mutation DNP GG AA AA TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr4:9784439_9784440GG>AA uc003gmb.4 + 0 1182_1183 c.786_787GG>AA c.(784-789)ctggag>ctAAag p.E263K NM_000798 NP_000789 P21918 DRD5_HUMAN Homo sapiens dopamine receptor D5 (DRD5), mRNA. 263 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) TTTCCTCCCTGGAGAGGGCCGC 0.629000 16 8 0 0 6.4e-05 0 0 LGALS4 3960 broad.mit.edu 37 19 39293023 39293023 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:39293023G>A uc002ojg.3 - 7 806 c.592C>T c.(592-594)Ctg>Ttg p.L198L NM_006149 NP_006140 P56470 LEG4_HUMAN Homo sapiens lectin, galactoside-binding, soluble, 4 (LGALS4), mRNA. 198 Galectin 2. cell adhesion cytosol|plasma membrane sugar binding NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 17 all_cancers(60;1.02e-05)|Ovarian(47;0.0454) Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741) CCTCCTTGCAGCCTCCCGAAA 0.522000 43 67 0 0 0.000781405 0 0 PCLO 27445 broad.mit.edu 37 7 82579037 82579037 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:82579037G>A uc003uhx.2 - 5 11156 c.10867C>T c.(10867-10869)Ctt>Ttt p.L3623F PCLO_uc003uhv.2_Missense_Mutation_p.L3623F|PCLO_uc010lec.3_Missense_Mutation_p.L588F NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 3554 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.V3622V(1) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGTGAGTAAAGGACTTTGGGG 0.478000 55 31 0 0 0.0024448 0 0 KRTAP9-8 83901 broad.mit.edu 37 17 39394271 39394271 + Splice_Site SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr17:39394271C>T uc002hwh.4 + 1 1 c.-33_splice c.e1-1 NM_031963 NP_114169 Q9BYQ0 KRA98_HUMAN Homo sapiens keratin associated protein 9-8 (KRTAP9-8), mRNA. keratin filament lung(8)|ovary(1)|prostate(1) 10 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) AAACTCACCTCTGAACAGAAC 0.532000 8 12 0 0 0.000566183 0 0 HIP1R 9026 broad.mit.edu 37 12 123334490 123334490 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:123334490C>T uc001udj.1 + 4 485 c.426C>T c.(424-426)tcC>tcT p.S142S HIP1R_uc001udg.1_Silent_p.S130S|HIP1R_uc001udi.1_Silent_p.S142S|HIP1R_uc001udh.3_Silent_p.S142S NM_003959 NP_003950 O75146 HIP1R_HUMAN Homo sapiens huntingtin interacting protein 1 related (HIP1R), mRNA. 142 ENTH. receptor-mediated endocytosis clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm actin binding|phosphatidylinositol binding breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 26 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2) CCAAGATCTCCTTCCACCTCA 0.577000 9 23 0 0 0.000878237 0 0 TTN 7273 broad.mit.edu 37 2 179431857 179431857 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:179431857C>T uc021vsy.1 - 274 71523 c.71298G>A c.(71296-71298)tgG>tgA p.W23766* MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.W17461*|TTN_uc021vta.1_Nonsense_Mutation_p.W17394*|TTN_uc021vtb.1_Nonsense_Mutation_p.W17269* NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 24693 Fibronectin type-III 73. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.Y23766C(1)|p.W23764*(1)|p.W17394*(1)|p.W23766*(1)|p.W17269*(1)|p.W17461*(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CAACAACAGTCCAGGCAAGTC 0.398000 73 37 0 0 0.000814825 0 0 GPR84 53831 broad.mit.edu 37 12 54757305 54757305 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:54757305G>A uc021qyp.1 - 0 331 c.331C>T c.(331-333)Ctc>Ttc p.L111F GPR84_uc001sfu.3_Missense_Mutation_p.L111F NM_020370 NP_065103 Q9NQS5 GPR84_HUMAN Homo sapiens G protein-coupled receptor 84 (GPR84), mRNA. 111 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1) 18 ATGAGGCAGAGGGTCAGGATG 0.572000 6 10 0 0 0.00136819 0 0 SLC4A1 6521 broad.mit.edu 37 17 42338145 42338145 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr17:42338145C>T uc002igf.4 - 4 356 c.207G>A c.(205-207)aaG>aaA p.K69K SLC4A1_uc021tyc.1_Silent_p.K69K NM_000342 NP_000333 P02730 B3AT_HUMAN Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA. 69 bicarbonate transport|cellular ion homeostasis Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 40 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) GCTCCTGGTTCTTTTCGTCCA 0.617000 8 15 0 0 0.00074312 0 0 IDO2 169355 broad.mit.edu 37 8 39806781 39806781 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:39806781C>T uc010lwy.1 + 1 378 c.136C>T c.(136-138)Ctg>Ttg p.L46L IDO2_uc003xno.1_Non-coding_Transcript NM_194294 NP_919270 Q6ZQW0 I23O2_HUMAN Homo sapiens indoleamine 2,3-dioxygenase 2 (IDO2), mRNA. 33 tryptophan catabolic process to kynurenine cytosol heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1) 18 TCCAGATTCTCTGGTAAGGAT 0.383000 5 4 0 0 0.00024832 0 0 TUBGCP6 85378 broad.mit.edu 37 22 50664720 50664720 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr22:50664720G>A uc003bkb.1 - 7 2201 c.1689C>T c.(1687-1689)ttC>ttT p.F563F TUBGCP6_uc010har.1_Silent_p.F563F|TUBGCP6_uc010has.1_Non-coding_Transcript|TUBGCP6_uc010hat.1_5'Flank|TUBGCP6_uc003bkd.1_5'Flank NM_020461 NP_065194 Q96RT7 GCP6_HUMAN Homo sapiens tubulin, gamma complex associated protein 6 (TUBGCP6), mRNA. 563 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-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) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) ACCTACCTCGGAAGCTGAGGT 0.612000 14 11 0 0 0.000673444 0 0 F9 2158 broad.mit.edu 37 X 138644029 138644029 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chrX:138644029C>T uc004fas.1 + 7 1214 c.1185C>T c.(1183-1185)ttC>ttT p.F395F F9_uc004fat.1_Silent_p.F357F NM_000133 NP_000124 P00740 FA9_HUMAN Homo sapiens coagulation factor IX (F9), mRNA. 395 Peptidase S1. F -> I (in HEMB).|F -> L (in HEMB). blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis Golgi lumen|endoplasmic reticulum lumen|extracellular region|plasma membrane calcium ion binding|serine-type endopeptidase activity p.F395L(2) breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1) 35 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) ACAACATGTTCTGTGCTGGCT 0.443000 14 60 0 0 0.000781405 0 0 EIF2AK4 440275 broad.mit.edu 37 15 40259840 40259841 + Missense_Mutation DNP CC TT TT TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr15:40259840_40259841CC>TT uc001zkm.1 + 8 1363_1364 c.1313_1314CC>TT c.(1312-1314)acc>aTT p.T438I EIF2AK4_uc001zkl.3_Missense_Mutation_p.T438I|EIF2AK4_uc010bbj.1_Missense_Mutation_p.T167I NM_001013703 NP_001013725 Q9P2K8 E2AK4_HUMAN Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA. 438 Protein kinase 1. translation cytosolic ribosome ATP binding|aminoacyl-tRNA ligase activity|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1) 40 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) GCAGAAGGCACCGTCAAGATTA 0.480000 28 28 0 0 6.4e-05 0 0 LRP1B 53353 broad.mit.edu 37 2 141739790 141739790 + Silent SNP T C C TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:141739790T>C uc002tvj.1 - 17 3798 c.2826A>G c.(2824-2826)agA>agG p.R942R LRP1B_uc010fnl.1_Silent_p.R124R NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 942 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) ACAGCCATGCTCTGGGAATGC 0.418000 TSP Lung(27;0.18) 62 7 0 0 0.000274275 0 0 FAM47A 158724 broad.mit.edu 37 X 34149264 34149264 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chrX:34149264C>T uc004ddg.3 - 0 1184 c.1132G>A c.(1132-1134)Gag>Aag p.E378K NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA. 378 p.E378*(2) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 TTGGAAGGCTCCGCGTGGAGA 0.637000 6 16 0 0 0.000566183 0 0 HIVEP2 3097 broad.mit.edu 37 6 143081308 143081308 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr6:143081308G>A uc003qjd.3 - 8 6860 c.6117C>T c.(6115-6117)ttC>ttT p.F2039F NM_006734 NP_006725 P31629 ZEP2_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA. 2039 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) TTGAGGGTGAGAAGTCCCTGG 0.478000 23 34 0 0 0.000953801 0 0 SOGA2 23255 broad.mit.edu 37 18 8825578 8825578 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr18:8825578C>T uc002knr.2 + 14 4212 c.4070C>T c.(4069-4071)cCc>cTc p.P1357L SOGA2_uc002knq.2_Missense_Mutation_p.P1316L|SOGA2_uc002kns.2_Missense_Mutation_p.P697L NM_015210 NP_056025 Q9Y4B5 CC165_HUMAN Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA. 1667 GGTGCTACACCCGTGTCGTCT 0.617000 11 13 0 0 0.00185496 0 0 DCAF6 55827 broad.mit.edu 37 1 168014467 168014467 + Splice_Site SNP T C C TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:168014467T>C uc001gew.3 + 14 2380 c.2027_splice c.e14+2 p.R676_splice DCAF6_uc001gex.3_Splice_Site_p.R753_splice|DCAF6_uc010plk.2_Splice_Site_p.R722_splice|DCAF6_uc001gev.3_Splice_Site_p.R696_splice|DCAF6_uc001gey.3_Splice_Site_p.R549_splice|DCAF6_uc001gez.3_Splice_Site NM_001017977 NP_001017977 Q58WW2 DCAF6_HUMAN Homo sapiens DDB1 and CUL4 associated factor 6 (DCAF6), transcript variant 2, mRNA. 676 IQ. positive regulation of transcription from RNA polymerase II promoter CUL4 RING ubiquitin ligase complex|nucleus ligand-dependent nuclear receptor transcription coactivator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 TGGTGATAGGTTGGTAAATTT 0.418000 31 8 0 0 0.000157383 0 0 TNXB 7148 broad.mit.edu 37 6 32026065 32026065 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr6:32026065C>T uc003nzl.2 - 21 7797 c.7595G>A c.(7594-7596)gGa>gAa p.G2532E NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 2592 Fibronectin type-III 17. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 AGGGGAGGATCCTGTCACTGT 0.672000 98 89 0 0 0.000781405 0 0 FCGBP 8857 broad.mit.edu 37 19 40397968 40397968 + Splice_Site SNP A T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:40397968A>T uc002omp.4 - 14 7008 c.7000_splice c.e14+1 p.P2334_splice NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 2334 Cys-rich. 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) AGTACTCACGACAGAAGTCCG 0.652000 34 14 0 0 0.00121646 0 0 HTR2C 3358 broad.mit.edu 37 X 114141186 114141186 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chrX:114141186G>A uc004epu.1 + 5 1313 c.585G>A c.(583-585)agG>agA p.R195R HTR2C_uc010nqc.1_Silent_p.R195R|HTR2C_uc004epv.1_Missense_Mutation_p.G164R NM_000868 NP_000859 P28335 5HT2C_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2C (HTR2C), mRNA. 195 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) TTGGACTGAGGGACGAAGAAA 0.458000 18 54 0 0 0.000781405 0 0 KIAA0317 9870 broad.mit.edu 37 14 75143345 75143345 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr14:75143345G>A uc001xqb.3 - 5 1097 c.592C>T c.(592-594)Ccc>Tcc p.P198S KIAA0317_uc010tut.1_Missense_Mutation_p.P37S NM_001039479 NP_001034568 O15033 K0317_HUMAN Homo sapiens KIAA0317 (KIAA0317), mRNA. 198 protein ubiquitination involved in ubiquitin-dependent protein catabolic process integral to membrane|intracellular ubiquitin-protein ligase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 BRCA - Breast invasive adenocarcinoma(234;0.00404) TTGTTGGTGGGATTATCATAC 0.448000 88 9 0 0 0.000442599 0 0 MUC16 94025 broad.mit.edu 37 19 9061109 9061109 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:9061109C>T uc002mkp.3 - 2 26541 c.26337G>A c.(26335-26337)acG>acA p.T8779T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 8781 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTGATCCTGTCGTGGTGAGGG 0.507000 18 33 0 0 0.00111076 0 0 TTN 7273 broad.mit.edu 37 2 179411964 179411964 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:179411964C>T uc021vsy.1 - 288 86809 c.86584G>A c.(86584-86586)Gaa>Aaa p.E28862K MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E22557K|TTN_uc021vta.1_Missense_Mutation_p.E22490K|TTN_uc021vtb.1_Missense_Mutation_p.E22365K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 29789 Fibronectin type-III 110. 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) TAGGGTTCTTCCCAACGAATA 0.423000 85 63 0 0 0.000781405 0 0 MRGPRX4 117196 broad.mit.edu 37 11 18195625 18195625 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:18195625C>T uc001mnv.1 + 0 1242 c.822C>T c.(820-822)ttC>ttT p.F274F NM_054032 NP_473373 Q96LA9 MRGX4_HUMAN Homo sapiens MAS-related GPR, member X4 (MRGPRX4), mRNA. 274 integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 TTTACTTCTTCGTGGGCTCCT 0.488000 52 33 0 0 0.000814825 0 0 C2orf54 79919 broad.mit.edu 37 2 241831074 241831074 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:241831074C>T uc002wae.4 - 1 780 c.621G>A c.(619-621)agG>agA p.R207R C2orf54_uc002wac.3_Silent_p.R39R|C2orf54_uc002wad.3_Silent_p.R58R NM_001085437 NP_001078906 Q08AI8 CB054_HUMAN Homo sapiens chromosome 2 open reading frame 54 (C2orf54), transcript variant 1, mRNA. 207 haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1) 6 all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15) CCCCAAGCTTCCTTCTCACCA 0.652000 30 23 0 0 0.00047179 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76574680 76574680 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr16:76574680G>A uc002fex.1 + 19 3583 c.3444G>A c.(3442-3444)agG>agA p.R1148R CNTNAP4_uc002feu.1_Silent_p.R1144R|CNTNAP4_uc002fev.1_Silent_p.R1009R|CNTNAP4_uc010chb.1_Silent_p.R1072R NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA. 1145 Laminin G-like 4. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 TATTGGGCAGGATTTTAGGTA 0.388000 4 4 0 0 0.00024832 0 0 FBXO22 26263 broad.mit.edu 37 15 76225279 76225279 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr15:76225279C>T uc002bbk.3 + 6 1153 c.1048C>T c.(1048-1050)Cct>Tct p.P350S FBXO22_uc002bbl.3_Missense_Mutation_p.P246S|FBXO22-AS1_uc002bbm.1_Non-coding_Transcript NM_147188 NP_671717 Q8NEZ5 FBX22_HUMAN Homo sapiens F-box protein 22 (FBXO22), transcript variant 1, mRNA. 350 ubiquitin-dependent protein catabolic process ubiquitin-protein ligase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 AAAGTTTTTTCCTAGTGTTCC 0.413000 52 24 0 0 0.00106085 0 0 FAM120B 84498 broad.mit.edu 37 6 170632278 170632278 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr6:170632278C>T uc003qxp.3 + 2 1954 c.1846C>T c.(1846-1848)Ccc>Tcc p.P616S FAM120B_uc003qxo.1_Missense_Mutation_p.P616S|FAM120B_uc011ehd.2_Intron NM_032448 NP_115824 Q96EK7 F120B_HUMAN Homo sapiens family with sequence similarity 120B (FAM120B), mRNA. 616 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2) 44 Breast(66;0.000338)|Esophageal squamous(34;0.241) OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899) CCAGGCCTTACCCAGCCAGGC 0.502000 9 26 0 0 0.000878237 0 0 ZAP70 7535 broad.mit.edu 37 2 98354284 98354284 + Missense_Mutation SNP T C C TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:98354284T>C uc002syd.1 + 11 1754 c.1547T>C c.(1546-1548)tTc>tCc p.F516S ZAP70_uc002sye.1_Missense_Mutation_p.F406S|ZAP70_uc002syf.1_Missense_Mutation_p.F209S NM_001079 NP_997402 P43403 ZAP70_HUMAN Homo sapiens zeta-chain (TCR) associated protein kinase 70kDa (ZAP70), transcript variant 1, mRNA. 516 Protein kinase. T cell receptor signaling pathway|immune response|intracellular protein kinase cascade|positive thymic T cell selection T cell receptor complex|cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 29 TTCCGCAAGTTCTCCAGCCGC 0.642000 60 33 0 0 0.00111076 0 0 FPGT-TNNI3K 100526835 broad.mit.edu 37 1 74737367 74737367 + Missense_Mutation SNP T G G TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:74737367T>G uc001dge.2 + 6 789 c.722T>G c.(721-723)aTt>aGt p.I241S FPGT-TNNI3K_uc001dgc.2_Missense_Mutation_p.I241S|FPGT-TNNI3K_uc001dgd.3_Missense_Mutation_p.I241S|FPGT-TNNI3K_uc001dgf.2_Missense_Mutation_p.I140S NM_001112808 NP_001106279 Q59H18 TNI3K_HUMAN Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA. 140 cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding GCCCTCCATATTGCTACAATA 0.428000 80 43 0 0 0.0025221 0 0 OTOL1 131149 broad.mit.edu 37 3 161221535 161221535 + Missense_Mutation SNP C G G TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:161221535C>G uc011bpb.2 + 3 1239 c.1239C>G c.(1237-1239)ttC>ttG p.F413L NM_001080440 NP_001073909 A6NHN0 OTOL1_HUMAN Homo sapiens otolin 1 (OTOL1), mRNA. 413 C1q. collagen p.Q412H(1) central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1) 27 AGAAGCAGTTCAAGTCCAGAG 0.473000 14 5 0 0 0.000157383 0 0 PROKR1 10887 broad.mit.edu 37 2 68873196 68873196 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:68873196C>T uc010yqj.2 + 0 403 c.243C>T c.(241-243)ttC>ttT p.F81F PROKR1_uc002ses.3_Non-coding_Transcript NM_138964 NP_620414 Q8TCW9 PKR1_HUMAN Homo sapiens prokineticin receptor 1 (PROKR1), mRNA. 81 integral to membrane|plasma membrane neuropeptide Y receptor activity endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 TTGGAAACTTCATCTTTATCG 0.532000 85 37 0 0 0.00148497 0 0 DPPA3 359787 broad.mit.edu 37 12 7868018 7868018 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:7868018C>T uc001qtf.3 + 1 400 c.322C>T c.(322-324)Cgt>Tgt p.R108C NM_199286 NP_954980 Q6W0C5 DPPA3_HUMAN Homo sapiens developmental pluripotency associated 3 (DPPA3), mRNA. 108 cytoplasm|nucleus endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2) 8 Kidney(36;0.0887) CGGCGGAGTTCGTACGGTATG 0.483000 39 12 0 0 0.00136819 0 0 OR2T3 343173 broad.mit.edu 37 1 248637188 248637188 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:248637188C>T uc001iel.1 + 0 537 c.537C>T c.(535-537)atC>atT p.I179I NM_001005495 NP_001005495 Q8NH03 OR2T3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA. 179 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3) 31 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CTAGGAAAATCCTGAGTTTTT 0.522000 59 40 0 0 0.00285205 0 0 MYO3B 140469 broad.mit.edu 37 2 171259451 171259451 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:171259451C>T uc002ufy.3 + 18 2366 c.2223C>T c.(2221-2223)atC>atT p.I741I MYO3B_uc002ufv.3_Silent_p.I728I|MYO3B_uc010fqb.1_Silent_p.I741I|MYO3B_uc002ufz.3_Silent_p.I741I|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Non-coding_Transcript NM_138995 NP_620482 Q8WXR4 MYO3B_HUMAN Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA. 741 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex ATP binding|actin binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 GCATAAACATCGCCAATGAGC 0.408000 47 15 0 0 0.00244969 0 0 LIN7C 55327 broad.mit.edu 37 11 27528327 27528327 + Splice_Site SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:27528327G>A uc001mrl.3 - 1 1 c.-26_splice c.e1-1 LIN7C_uc009yii.3_Splice_Site|BDNF-AS_uc009yip.3_5'Flank|BDNF-AS_uc001mrn.3_5'Flank|BDNF-AS_uc001mro.3_5'Flank|BDNF-AS_uc001mrm.3_5'Flank|BDNF-AS_uc009yiq.3_5'Flank|BDNF-AS_uc001mrp.3_5'Flank|BDNF-AS_uc009yij.3_5'Flank|BDNF-AS_uc009yik.3_5'Flank|BDNF-AS_uc009yil.3_5'Flank|BDNF-AS_uc009yin.3_5'Flank|BDNF-AS_uc009yio.3_5'Flank|BDNF-AS_uc009yim.3_5'Flank|BDNF-AS_uc009yir.3_5'Flank|BDNF-AS_uc009yis.3_5'Flank|BDNF-AS_uc009yiu.3_5'Flank|BDNF-AS_uc009yix.3_5'Flank|BDNF-AS_uc009yiy.3_5'Flank|BDNF-AS_uc001mrq.4_5'Flank|BDNF-AS_uc009yiw.3_5'Flank|BDNF-AS_uc009yiz.3_5'Flank|BDNF-AS_uc001mrr.4_5'Flank|BDNF-AS_uc009yit.3_5'Flank|BDNF-AS_uc009yiv.3_5'Flank|BDNF-AS_uc009yja.3_5'Flank|BDNF-AS_uc009yjb.3_5'Flank NM_018362 NP_060832 Q9NUP9 LIN7C_HUMAN Homo sapiens lin-7 homolog C (C. elegans) (LIN7C), mRNA. exocytosis|protein transport basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction endometrium(2)|lung(2)|upper_aerodigestive_tract(1) 5 AGACCCACAGGAAATGACGAC 0.637000 32 12 0 0 0.00136819 0 0 FCGBP 8857 broad.mit.edu 37 19 40433743 40433743 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:40433743C>T uc002omp.4 - 1 534 c.526G>A c.(526-528)Ggg>Agg p.G176R NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 176 IgGFc-binding. extracellular region protein binding p.G176W(2) 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) GTCACTGACCCCTTCAGCGTG 0.567000 40 19 0 0 0.00229938 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41049436 41049436 + Nonsense_Mutation SNP T A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr5:41049436T>A uc003jmj.4 - 13 1937 c.1447A>T c.(1447-1449)Aag>Tag p.K483* HEATR7B2_uc003jmi.4_Nonsense_Mutation_p.K38* NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA. 483 binding breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4) 133 TGCTGCTTCTTCTCCTCTGCC 0.458000 42 10 0 0 0.000673444 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128838851 128838851 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:128838851G>A uc009zcp.3 - 21 6215 c.6215C>T c.(6214-6216)cCc>cTc p.P2072L ARHGAP32_uc009zcq.2_3'UTR|ARHGAP32_uc009zco.3_Missense_Mutation_p.P1031L|ARHGAP32_uc001qez.3_Missense_Mutation_p.P1723L NM_001142685 NP_055530 A7KAX9 RHG32_HUMAN Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA. 2072 Interaction with FYN. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction Golgi membrane|cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 CAACTCTGCGGGCAGGAAGGC 0.582000 6 7 0 0 0.000274275 0 0 EML5 161436 broad.mit.edu 37 14 89094155 89094155 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr14:89094155G>A uc021ryf.1 - 32 4615 c.4366C>T c.(4366-4368)Cct>Tct p.P1456S EML5_uc001xxf.3_Missense_Mutation_p.P243S|EML5_uc021ryg.1_Missense_Mutation_p.P1456S|EML5_uc001xxh.1_Missense_Mutation_p.P587S NM_183387 NP_899243 Q05BV3 EMAL5_HUMAN Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA. 1448 cytoplasm|microtubule breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 TGAATAGAAGGAGCTGTAGCT 0.358000 3 4 0 0 0.000602214 0 0 DBH 1621 broad.mit.edu 37 9 136508583 136508583 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr9:136508583G>A uc004cel.3 + 3 802 c.793G>A c.(793-795)Gaa>Aaa p.E265K NM_000787 NP_000778 P09172 DOPO_HUMAN Homo sapiens dopamine beta-hydroxylase (dopamine beta-monooxygenase) (DBH), mRNA. 265 hormone biosynthetic process chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane L-ascorbic acid binding|dopamine beta-monooxygenase activity central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 36 OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05) Dopamine(DB00988)|Vitamin C(DB00126) CCACCACATGGAAGTCTTCCA 0.657000 9 21 0 0 0.000586117 0 0 BIRC6 57448 broad.mit.edu 37 2 32724764 32724764 + Silent SNP C T T rs111947829 TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:32724764C>T uc010ezu.3 + 45 8753 c.8619C>T c.(8617-8619)tgC>tgT p.C2873C NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA. 2873 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) ATATCACTTGCTCAGACAAAG 0.433000 135 64 0 0 0.000781405 0 0 VCAN 1462 broad.mit.edu 37 5 82833328 82833328 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr5:82833328C>T uc003kii.3 + 7 4862 c.4506C>T c.(4504-4506)ccC>ccT p.P1502P VCAN_uc003kij.3_Silent_p.P515P|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Silent_p.P166P NM_004385 NP_004376 P13611 CSPG2_HUMAN Homo sapiens versican (VCAN), transcript variant 1, mRNA. 1502 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) ATGTTTTCCCCACAGTCCCAT 0.438000 14 18 0 0 0.000958276 0 0 PACRGL 133015 broad.mit.edu 37 4 20728951 20728951 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr4:20728951C>T uc010iek.3 + 8 1125 c.734C>T c.(733-735)tCc>tTc p.S245F PACRGL_uc003gpu.3_Non-coding_Transcript|PACRGL_uc003gpz.3_Missense_Mutation_p.S218F|PACRGL_uc011bxm.2_3'UTR|PACRGL_uc003gqa.3_Missense_Mutation_p.S120F|PACRGL_uc011bxn.2_Missense_Mutation_p.S120F NM_145048 NP_659485 Q8N7B6 PACRL_HUMAN Homo sapiens PARK2 co-regulated-like (PACRGL), transcript variant 1, mRNA. 245 binding endometrium(2)|lung(7)|prostate(1) 10 ACATACTGCTCCATATGCTGT 0.368000 62 30 0 0 0.00127121 0 0 OTOGL 283310 broad.mit.edu 37 12 80707373 80707373 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:80707373G>A uc001szd.3 + 29 3547 c.3541G>A c.(3541-3543)Gaa>Aaa p.E1181K NM_173591 NP_775862 Homo sapiens otogelin-like (OTOGL), mRNA. p.E1181*(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 GTGTTGTCAGGAAGGAATATC 0.358000 39 36 0 0 0.00285205 0 0 GALNT5 11227 broad.mit.edu 37 2 158157217 158157217 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:158157217C>T uc002tzg.3 + 6 2400 c.2145C>T c.(2143-2145)atC>atT p.I715I GALNT5_uc010zci.2_Non-coding_Transcript NM_014568 NP_055383 Q7Z7M9 GALT5_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA. 715 Catalytic subdomain B. glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.I715I(2)|p.E714D(1) breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 56 AAATTGAGATCATTCCCTGCT 0.438000 70 32 0 0 0.000814825 0 0 FLG2 388698 broad.mit.edu 37 1 152326202 152326202 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:152326202C>T uc001ezw.4 - 2 4133 c.4060G>A c.(4060-4062)Gaa>Aaa p.E1354K AK056431_uc001ezv.3_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN Homo sapiens filaggrin family member 2 (FLG2), mRNA. 1354 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAGTGCACTTCACTGTCAGTG 0.483000 104 35 0 0 0.00283554 0 0 CSMD2 114784 broad.mit.edu 37 1 34090134 34090134 + Silent SNP T C C TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:34090134T>C uc001bxm.1 - 34 5787 c.5610A>G c.(5608-5610)gaA>gaG p.E1870E CSMD2_uc001bxn.1_Silent_p.E1830E|CSMD2_uc001bxo.1_Silent_p.E743E NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 1830 CUB 11. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TGCCAGCGCCTTCGGGGACCA 0.647000 28 23 0 0 0.000586117 0 0 DHRS12 79758 broad.mit.edu 37 13 52364186 52364186 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr13:52364186C>T uc001vfq.3 - 4 457 c.409G>A c.(409-411)Gaa>Aaa p.E137K DHRS12_uc001vfr.1_Missense_Mutation_p.E88K|DHRS12_uc001vfs.1_Missense_Mutation_p.E88K A0PJE2 DHR12_HUMAN Homo sapiens dehydrogenase/reductase (SDR family) member 12 (DHRS12), transcript variant 2, mRNA. 137 binding|oxidoreductase activity cervix(1)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1) 7 Breast(56;0.00173)|Prostate(109;0.00899)|Lung NSC(96;0.0199)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.81e-08) AGTCCATCTTCTGTGAGCTCT 0.308000 63 31 0 0 0.000953801 0 0 FLG 2312 broad.mit.edu 37 1 152281693 152281693 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:152281693G>A uc001ezu.1 - 2 5705 c.5669C>T c.(5668-5670)tCt>tTt p.S1890F NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 1890 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTCGGCCCGAGAGGAAGCTTC 0.577000 Ichthyosis 206 95 0 0 0.000781405 0 0 AKAP11 11215 broad.mit.edu 37 13 42875847 42875847 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr13:42875847C>T uc001uys.2 + 7 3140 c.2965C>T c.(2965-2967)Cct>Tct p.P989S NM_016248 NP_057332 Q9UKA4 AKA11_HUMAN Homo sapiens A kinase (PRKA) anchor protein 11 (AKAP11), mRNA. 989 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2) 56 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) TCCCAAATTTCCTGACTCTCA 0.403000 33 18 0 0 0.000566183 0 0 MGLL 11343 broad.mit.edu 37 3 127411046 127411046 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:127411046G>A uc003ejx.3 - 7 1052 c.907C>T c.(907-909)Ccc>Tcc p.P303S MGLL_uc003ejw.3_Missense_Mutation_p.P313S|MGLL_uc011bko.2_Missense_Mutation_p.P283S|MGLL_uc003ejv.3_Missense_Mutation_p.P277S NM_001003794 NP_001003794 Q99685 MGLL_HUMAN Homo sapiens monoglyceride lipase (MGLL), transcript variant 2, mRNA. 303 arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process plasma membrane acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2) 6 TGCATTCAGGGTGGGGACGCA 0.532000 35 17 0 0 0.00074312 0 0 BCL10 8915 broad.mit.edu 37 1 85742019 85742019 + Missense_Mutation SNP G T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:85742019G>T uc021opd.1 - 0 569 c.17C>A c.(16-18)cCg>cAg p.P6Q LOC646626_uc001dla.2_5'Flank|LOC646626_uc021ope.1_5'Flank NM_003921 NP_003912 O95999 BCL10_HUMAN Homo sapiens B-cell CLL/lymphoma 10 (BCL10), mRNA. 6 T cell receptor signaling pathway|apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 19 all cancers(265;0.0114)|Epithelial(280;0.0311) GGTGAGGGACGGTGCGGTGGG 0.726000 T IGH@ MALT 37 4 0.00116845 0.00464238 0.00116845 1 0 AGXT2 64902 broad.mit.edu 37 5 35010173 35010173 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr5:35010173C>T uc003jjf.3 - 11 1513 c.1270G>A c.(1270-1272)Gaa>Aaa p.E424K AGXT2_uc003jje.1_Missense_Mutation_p.E77K|AGXT2_uc011com.2_Missense_Mutation_p.E349K NM_031900 NP_114106 Q9BYV1 AGT2_HUMAN Homo sapiens alanine--glyoxylate aminotransferase 2 (AGXT2), nuclear gene encoding mitochondrial protein, mRNA. 424 glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process mitochondrial matrix (R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 41 all_lung(31;4.52e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GBM - Glioblastoma multiforme(108;0.181) Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119) ATTTCAAATTCATCCCGCAGC 0.438000 68 35 0 0 0.000814825 0 0 EVPL 2125 broad.mit.edu 37 17 74004741 74004741 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr17:74004741C>T uc010wss.1 - 21 4839 c.4611G>A c.(4609-4611)caG>caA p.Q1537Q EVPL_uc002jqi.2_Silent_p.Q1515Q|EVPL_uc010wst.1_Silent_p.Q985Q NM_001988 NP_001979 Q92817 EVPL_HUMAN Homo sapiens envoplakin (EVPL), mRNA. 1515 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity p.R1536W(1) breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 TGGTCTTCTCCTGCGATTTGG 0.597000 54 59 0 0 0.000781405 0 0 ZNF488 118738 broad.mit.edu 37 10 48371431 48371431 + Missense_Mutation SNP A T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr10:48371431A>T uc001jex.3 + 1 1061 c.899A>T c.(898-900)aAg>aTg p.K300M ZNF488_uc021ppx.1_Missense_Mutation_p.K300M NM_153034 NP_694579 Q96MN9 ZN488_HUMAN Homo sapiens zinc finger protein 488 (ZNF488), mRNA. 300 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2) 14 CACCACAAAAAGGAGCATGCG 0.602000 14 25 0 0 0.00106085 0 0 ANO2 57101 broad.mit.edu 37 12 6030386 6030386 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:6030386G>A uc001qnm.2 - 2 414 c.342C>T c.(340-342)ttC>ttT p.F114F ANO2_uc021qtt.1_Silent_p.F118F NM_020373 NP_065106 Q9NQ90 ANO2_HUMAN Homo sapiens anoctamin 2 (ANO2), mRNA. 118 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 AGTGGCCAGGGAAGCCTTGGG 0.617000 23 9 0 0 0.000442599 0 0 EYA2 2139 broad.mit.edu 37 20 45808552 45808552 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr20:45808552C>T uc002xsm.3 + 12 1679 c.1305C>T c.(1303-1305)atC>atT p.I435I EYA2_uc010ghp.3_Intron|EYA2_uc002xsq.3_Silent_p.I405I NM_005244 NP_005235 O00167 EYA2_HUMAN Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA. 435 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0241) TAAACCTCATCAACTCCCGGC 0.557000 18 7 0 0 0.000274275 0 0 PPP1R13L 10848 broad.mit.edu 37 19 45895246 45895246 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:45895246G>A uc002pbn.3 - 7 1784 c.1707C>T c.(1705-1707)atC>atT p.I569I PPP1R13L_uc002pbm.3_Silent_p.I148I|PPP1R13L_uc002pbo.3_Silent_p.I569I NM_006663 NP_006654 Q8WUF5 IASPP_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 13 like (PPP1R13L), transcript variant 2, mRNA. 569 Pro-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus transcription corepressor activity|transcription factor binding breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) ATCCCTCAGTGATGGGGGACA 0.697000 18 14 0 0 0.000422831 0 0 HFM1 164045 broad.mit.edu 37 1 91843722 91843722 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:91843722C>T uc001doa.4 - 10 1354 c.1255G>A c.(1255-1257)Gaa>Aaa p.E419K HFM1_uc010osu.2_Missense_Mutation_p.E98K|HFM1_uc010osv.1_Missense_Mutation_p.E103K|HFM1_uc001doc.1_Missense_Mutation_p.E419K NM_001017975 NP_001017975 A2PYH4 HFM1_HUMAN Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA. 419 Helicase ATP-binding. 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) CCACGATTTTCATCTTTTACA 0.289000 34 18 0 0 0.00188189 0 0 ARHGEF5 7984 broad.mit.edu 37 7 144062336 144062336 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:144062336C>T uc003wel.3 + 1 2692 c.2574C>T c.(2572-2574)tcC>tcT p.S858S ARHGEF5_uc003wek.3_Silent_p.S858S|ARHGEF5_uc003wem.3_5'Flank NM_005435 NP_005426 Q12774 ARHG5_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA. 858 intracellular signal transduction|regulation of Rho protein signal transduction intracellular GTP binding|Rho guanyl-nucleotide exchange factor activity|protein binding breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Melanoma(164;0.14) CCCCAAAGTCCAGGGGGAGGA 0.587000 61 7 0 0 0.000274275 0 0 EPHB4 2050 broad.mit.edu 37 7 100421842 100421842 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:100421842G>A uc003uwn.1 - 1 597 c.106C>T c.(106-108)Cct>Tct p.P36S EPHB4_uc003uwm.1_5'UTR|EPHB4_uc010lhj.1_Missense_Mutation_p.P36S|EPHB4_uc011kkf.1_Missense_Mutation_p.P36S|EPHB4_uc011kkg.1_Missense_Mutation_p.P36S|EPHB4_uc011kkh.1_Missense_Mutation_p.P36S NM_004444 NP_004435 P54760 EPHB4_HUMAN Homo sapiens EPH receptor B4 (EPHB4), mRNA. 36 cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity p.P36H(1) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3) 47 Lung NSC(181;0.041)|all_lung(186;0.0581) TCCACCTGAGGGAATGTCACC 0.597000 62 40 0 0 0.000781405 0 0 SEL1L2 80343 broad.mit.edu 37 20 13869134 13869134 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr20:13869134C>T uc010gcf.3 - 5 656 c.574G>A c.(574-576)Gga>Aga p.G192R SEL1L2_uc002woq.4_Missense_Mutation_p.G53R|SEL1L2_uc010zrl.2_Missense_Mutation_p.G192R|SEL1L2_uc002wor.3_Non-coding_Transcript NM_025229 NP_079505 Q5TEA6 SE1L2_HUMAN Homo sapiens sel-1 suppressor of lin-12-like 2 (C. elegans) (SEL1L2), mRNA. 192 integral to membrane binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 51 ATTCCTATTCCATAAGAAGAC 0.274000 34 17 0 0 0.00188189 0 0 BRD8 10902 broad.mit.edu 37 5 137486557 137486557 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr5:137486557C>T uc003lcf.1 - 21 3052 c.2997G>A c.(2995-2997)gaG>gaA p.E999E NM_139199 NP_631938 Q9H0E9 BRD8_HUMAN Homo sapiens bromodomain containing 8 (BRD8), transcript variant 2, mRNA. 999 cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter NuA4 histone acetyltransferase complex|mitochondrion sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1) 35 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) TAGCTGAAAGCTCTTCAGTCT 0.488000 21 40 0 0 0.00170553 0 0 TTN 7273 broad.mit.edu 37 2 179596099 179596099 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:179596099C>T uc021vsy.1 - 55 13887 c.13662G>A c.(13660-13662)ggG>ggA p.G4554G TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.G1215G NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 5481 Ig-like 25. 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) AGACATATTTCCCATCATGCT 0.408000 164 76 0 0 0.000781405 0 0 YTHDC2 64848 broad.mit.edu 37 5 112868587 112868587 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr5:112868587C>T uc003kqn.3 + 4 889 c.687C>T c.(685-687)ttC>ttT p.F229F YTHDC2_uc010jce.2_Silent_p.F229F|YTHDC2_uc010jcf.2_5'UTR NM_022828 NP_073739 Q9H6S0 YTDC2_HUMAN Homo sapiens YTH domain containing 2 (YTHDC2), mRNA. 229 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|nucleic acid binding p.F229S(1) NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) TTCCTCAGTTCCTTTTAGATG 0.363000 15 45 0 0 0.000781405 0 0 COL11A2 1302 broad.mit.edu 37 6 33156784 33156784 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr6:33156784G>A uc003ocx.1 - 2 642 c.414C>T c.(412-414)gtC>gtT p.V138V COL11A2_uc003ocy.1_Silent_p.V138V|COL11A2_uc003ocz.1_Silent_p.V138V|COL11A2_uc003oda.3_Silent_p.V138V NM_080680 NP_542411 P13942 COBA2_HUMAN Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA. 138 TSP N-terminal. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 GGCCTCGGAAGACTGGCTGAG 0.612000 102 33 0 0 0.00128727 0 0 HPS3 84343 broad.mit.edu 37 3 148857936 148857936 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:148857936C>T uc003ewu.1 + 1 503 c.363C>T c.(361-363)ttC>ttT p.F121F HPS3_uc011bnq.1_Intron|HPS3_uc021xfk.1_Silent_p.F14F NM_032383 NP_115759 Q969F9 HPS3_HUMAN Homo sapiens Hermansky-Pudlak syndrome 3 (HPS3), mRNA. 121 cytoplasm breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 34 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) GCAAAGCCTTCAGAGACCAGA 0.463000 Hermansky-Pudlak syndrome 91 65 0 0 0.000781405 0 0 TTN 7273 broad.mit.edu 37 2 179428836 179428836 + Silent SNP C A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:179428836C>A uc021vsy.1 - 274 74544 c.74319G>T c.(74317-74319)cgG>cgT p.R24773R MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.R18468R|TTN_uc021vta.1_Silent_p.R18401R|TTN_uc021vtb.1_Silent_p.R18276R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 25700 Fibronectin type-III 80. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.E24773Q(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTCCATCAGTCCGTATACAGT 0.393000 144 86 7.61764e-41 3.08328e-40 0.000781405 1 0 CYP2F1 1572 broad.mit.edu 37 19 41628759 41628759 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:41628759G>A uc002opu.1 + 6 911 c.855G>A c.(853-855)atG>atA p.M285I CYP2F1_uc021uuv.1_Missense_Mutation_p.M71I|CYP2F1_uc010xvv.1_Missense_Mutation_p.M285I|CYP2F1_uc002opv.1_Non-coding_Transcript NM_000774 NP_000765 P24903 CP2F1_HUMAN Homo sapiens cytochrome P450, family 2, subfamily F, polypeptide 1 (CYP2F1), mRNA. 285 naphthalene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2) 29 ACTTCCACATGGATACCCTGC 0.567000 23 10 0 0 0.00136819 0 0 OR1E1 8387 broad.mit.edu 37 17 3301220 3301220 + Missense_Mutation SNP A C C TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr17:3301220A>C uc002fvj.1 - 0 485 c.485T>G c.(484-486)cTc>cGc p.L162R NM_003553 NP_003544 P30953 OR1E1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily E, member 1 (OR1E1), mRNA. 162 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(2)|lung(5) 10 CCTGGCCATGAGTAAAGTGTG 0.532000 15 5 0 0 0.000602214 0 0 KRT24 192666 broad.mit.edu 37 17 38854792 38854792 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr17:38854792C>T uc002hvd.3 - 6 1529 c.1472G>A c.(1471-1473)cGa>cAa p.R491Q NM_019016 NP_061889 Q2M2I5 K1C24_HUMAN Homo sapiens keratin 24 (KRT24), mRNA. 491 Tail. cytoplasm|intermediate filament structural molecule activity p.R491Q(2) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Breast(137;0.00526) AAGTCTACCTCGTCCTTGACC 0.363000 55 69 0 0 0.000781405 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145830929 145830929 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:145830929G>A uc003zds.1 - 2 626 c.71C>T c.(70-72)tCg>tTg p.S24L ARHGAP39_uc011llk.1_Missense_Mutation_p.S24L|ARHGAP39_uc003zdt.1_Missense_Mutation_p.S24L NM_025251 NP_079527 Q9C0H5 RHG39_HUMAN Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA. 24 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 CCGAGTGTTCGACCCTGGAAT 0.612000 29 16 0 0 0.00121646 0 0 ZFHX4 79776 broad.mit.edu 37 8 77616580 77616580 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:77616580C>T uc003yau.2 + 1 644 c.257C>T c.(256-258)gCc>gTc p.A86V ZFHX4_uc003yat.1_Missense_Mutation_p.A86V|ZFHX4_uc003yaw.1_Missense_Mutation_p.A86V NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 86 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A86V(2)|p.C85F(1) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AACGAATGTGCCACTTCTTTT 0.507000 HNSCC(33;0.089) 95 48 0 0 0.000781405 0 0 IL21 59067 broad.mit.edu 37 4 123533869 123533869 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr4:123533869G>A uc003ies.2 - 4 530 c.485C>T c.(484-486)tCc>tTc p.S162F IL21_uc010int.3_3'UTR NM_021803 NP_068575 Q9HBE4 IL21_HUMAN Homo sapiens interleukin 21 (IL21), transcript variant 1, mRNA. 155 cell maturation|immune response|positive regulation of T cell proliferation|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|signal transduction extracellular space cytokine activity|interleukin-2 receptor binding NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3) 8 AGATCCTCAGGAATCTTCACT 0.373000 26 10 0 0 0.000673444 0 0 WWP1 11059 broad.mit.edu 37 8 87439898 87439898 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:87439898G>A uc003ydt.3 + 10 1464 c.1184G>A c.(1183-1185)aGa>aAa p.R395K WWP1_uc010mai.3_Missense_Mutation_p.R171K NM_007013 NP_008944 Q9H0M0 WWP1_HUMAN Homo sapiens WW domain containing E3 ubiquitin protein ligase 1 (WWP1), mRNA. 395 WW 2. central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1) 31 GATGATCGTAGAAGAGTTTAT 0.373000 51 23 0 0 0.000586117 0 0 PCIF1 63935 broad.mit.edu 37 20 44569573 44569573 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr20:44569573C>T uc002xqs.3 + 5 827 c.513C>T c.(511-513)ccC>ccT p.P171P NM_022104 NP_071387 Q9H4Z3 PCIF1_HUMAN Homo sapiens PDX1 C-terminal inhibiting factor 1 (PCIF1), mRNA. 171 nucleus central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 20 TCCTACGACCCACTGAGTGAG 0.602000 21 15 0 0 0.00244969 0 0 MLL3 58508 broad.mit.edu 37 7 151917674 151917674 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:151917674C>T uc003wla.3 - 22 3865 c.3646G>A c.(3646-3648)Gtc>Atc p.V1216I MLL3_uc003wkz.3_Missense_Mutation_p.V277I NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA. 1216 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15) 365 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) GTCTGAAGGACGGCCACGCTA 0.398000 N medulloblastoma 41 12 0 0 0.00244969 0 0 FAM49A 81553 broad.mit.edu 37 2 16742506 16742506 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:16742506G>A uc010exm.2 - 6 701 c.553C>T c.(553-555)Cga>Tga p.R185* FAM49A_uc002rck.2_Nonsense_Mutation_p.R185* NM_030797 NP_110424 Q9H0Q0 FA49A_HUMAN Homo sapiens family with sequence similarity 49, member A (FAM49A), mRNA. 185 intracellular breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088) GBM - Glioblastoma multiforme(3;0.00969) AGGGACATTCGATTGGCCATC 0.403000 80 46 0 0 0.000781405 0 0 ABCC1 4363 broad.mit.edu 37 16 16215849 16215849 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr16:16215849C>T uc010bvi.3 + 23 3583 c.3408C>T c.(3406-3408)tcC>tcT p.S1136S ABCC1_uc010bvj.3_Silent_p.S1077S|ABCC1_uc010bvk.3_Silent_p.S1080S|ABCC1_uc010bvl.3_Silent_p.S1136S|ABCC1_uc010bvm.3_Silent_p.S1021S|ABCC1_uc002del.4_Silent_p.S1030S|ABCC1_uc021tds.1_Non-coding_Transcript|ABCC1_uc021tdt.1_Silent_p.S102S NM_004996 NP_004987 P33527 MRP1_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA. 1136 ABC transmembrane type-1 2. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) ACGTGGCTTCCTCCCGGCAGC 0.612000 21 12 0 0 0.00244969 0 0 abParts 0 broad.mit.edu 37 14 106692110 106692110 + RNA SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr14:106692110G>A uc021ser.1 - 1154 c.24976C>T Parts of antibodies, mostly variable regions. AAACCCAGCGGAGCCCCAGTT 0.498000 41 46 0 0 0.000781405 0 0 MUC16 94025 broad.mit.edu 37 19 9076887 9076887 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:9076887G>A uc002mkp.3 - 2 10763 c.10559C>T c.(10558-10560)tCa>tTa p.S3520L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 3521 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 CGCAGGAGATGAAGTCTGAGA 0.507000 40 44 0 0 0.00285205 0 0 DSG3 1830 broad.mit.edu 37 18 29041205 29041205 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr18:29041205G>A uc002kws.3 + 7 938 c.829G>A c.(829-831)Gaa>Aaa p.E277K NM_001944 NP_001935 P32926 DSG3_HUMAN Homo sapiens desmoglein 3 (DSG3), mRNA. 277 Cadherin 3. cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) AGCACGTATTGAAGAAAATAT 0.328000 16 7 0 0 0.00198382 0 0 SPANXN2 494119 broad.mit.edu 37 X 142803707 142803707 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chrX:142803707G>A uc004fbz.3 - 0 810 c.56C>T c.(55-57)tCc>tTc p.S19F NM_001009615 NP_001009615 Q5MJ10 SPXN2_HUMAN Homo sapiens SPANX family, member N2 (SPANXN2), mRNA. 19 NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) TTTGTTATTGGATTCACAGGG 0.443000 20 48 0 0 0.000781405 0 0 CNTN5 53942 broad.mit.edu 37 11 100141954 100141954 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:100141954G>A uc001pga.3 + 17 2799 c.2295G>A c.(2293-2295)atG>atA p.M765I CNTN5_uc001pfz.3_Missense_Mutation_p.M765I|CNTN5_uc021qpb.1_Missense_Mutation_p.M765I|CNTN5_uc021qpc.1_Missense_Mutation_p.M691I|CNTN5_uc010ruk.2_Missense_Mutation_p.M36I NM_014361 NP_055176 O94779 CNTN5_HUMAN Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA. 765 Fibronectin type-III 1. cell adhesion anchored to membrane|plasma membrane protein binding p.R764*(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) CATCTCGAATGATCCGCACAA 0.453000 10 10 0 0 0.000673444 0 0 CSF2RB 1439 broad.mit.edu 37 22 37329990 37329990 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr22:37329990G>A uc003aqa.4 + 9 1486 c.1269G>A c.(1267-1269)ggG>ggA p.G423G CSF2RB_uc003aqc.4_Silent_p.G429G NM_000395 NP_000386 P32927 IL3RB_HUMAN Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA. 423 Fibronectin type-III 2. respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity p.G423E(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2) 42 Sargramostim(DB00020) GCTACAACGGGATCTGGAGCG 0.657000 28 18 0 0 0.00121646 0 0 GFRAL 389400 broad.mit.edu 37 6 55223796 55223796 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr6:55223796G>A uc003pcm.1 + 5 898 c.812G>A c.(811-813)gGa>gAa p.G271E NM_207410 NP_997293 Q6UXV0 GFRAL_HUMAN Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA. 271 integral to membrane receptor activity NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 48 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) ACTTGTTCAGGAAGTGATGAC 0.433000 69 50 0 0 0.000781405 0 0 AIM1L 55057 broad.mit.edu 37 1 26672466 26672466 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:26672466G>A uc001bmd.4 - 1 833 c.683C>T c.(682-684)tCg>tTg p.S228L NM_001039775 NP_001034864 Q8N1P7 AIM1L_HUMAN Homo sapiens absent in melanoma 1-like (AIM1L), mRNA. 0 Beta/gamma crystallin 'Greek key' 5. sugar binding endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2) 12 all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239) GCGGCTGGGCGAGCCTGGTGG 0.706000 16 6 0 0 0.00198382 0 0 TRIM46 80128 broad.mit.edu 37 1 155156512 155156512 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:155156512C>T uc001fhs.1 + 9 2209 c.2126C>T c.(2125-2127)tCc>tTc p.S709F TRIM46_uc001fht.1_Non-coding_Transcript|TRIM46_uc010pfa.1_Missense_Mutation_p.S583F|TRIM46_uc001fhu.1_Missense_Mutation_p.S686F|TRIM46_uc001fhw.1_Non-coding_Transcript|TRIM46_uc021pao.1_Non-coding_Transcript NM_025058 NP_079334 Q7Z4K8 TRI46_HUMAN Homo sapiens tripartite motif containing 46 (TRIM46), mRNA. 709 B30.2/SPRY. intracellular zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 29 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GATGCTGTTTCCTTCCGTGGG 0.662000 16 15 0 0 0.00074312 0 0 CTAGE5 4253 broad.mit.edu 37 14 39818088 39818088 + Missense_Mutation SNP T C C TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr14:39818088T>C uc001wvi.4 + 22 2506 c.2170T>C c.(2170-2172)Ttc>Ctc p.F724L CTAGE5_uc001wuy.4_Missense_Mutation_p.F639L|CTAGE5_uc001wuz.4_Missense_Mutation_p.F707L|CTAGE5_uc001wva.4_Missense_Mutation_p.F690L|CTAGE5_uc001wvb.4_Missense_Mutation_p.F647L|CTAGE5_uc001wvc.4_Missense_Mutation_p.F621L|CTAGE5_uc001wvf.4_Missense_Mutation_p.F644L|CTAGE5_uc001wvg.4_Missense_Mutation_p.F719L|CTAGE5_uc001wvh.4_Missense_Mutation_p.F676L|CTAGE5_uc010amz.3_Missense_Mutation_p.F335L|CTAGE5_uc001wvj.4_Missense_Mutation_p.F690L NM_001247989 NP_001234918 O15320 CTGE5_HUMAN Homo sapiens CTAGE family, member 5 (CTAGE5), transcript variant 6, mRNA. 719 Pro-rich. enzyme activator activity|protein binding p.P724S(1) CTAGE5/SIP1(2) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0475) AGGACCTCCTTTCCCCCCACC 0.537000 94 9 0 0 0.000442599 0 0 IKZF1 10320 broad.mit.edu 37 7 50459562 50459562 + Splice_Site SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:50459562G>A uc003tow.4 + 7 1005 c.850_splice c.e7+1 p.G284_splice IKZF1_uc022acq.1_Intron|IKZF1_uc003tpa.4_Intron|IKZF1_uc022acr.1_Splice_Site_p.G59_splice|IKZF1_uc022acs.1_Intron|IKZF1_uc022act.1_Intron|IKZF1_uc022acu.1_Splice_Site_p.G197_splice|IKZF1_uc003tox.4_Splice_Site_p.G242_splice|IKZF1_uc022acv.1_Intron|IKZF1_uc022acw.1_Splice_Site_p.G155_splice|IKZF1_uc022acx.1_Intron|IKZF1_uc022acy.1_Intron|IKZF1_uc022acz.1_Splice_Site_p.G101_splice|IKZF1_uc011kck.2_Splice_Site_p.G197_splice|IKZF1_uc003toy.4_Splice_Site_p.G242_splice|IKZF1_uc003toz.4_Splice_Site_p.G254_splice|IKZF1_uc010kyx.3_Intron NM_006060 NP_006051 Q13422 IKZF1_HUMAN Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA. 284 cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding p.?(27) haematopoietic_and_lymphoid_tissue(275)|lung(1) 276 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) AAATTTCTTGGTAAGAGTTAA 0.398000 """D,T""" BCL6 """ALL, DLBCL""" 7 8 0 0 0.000157383 0 0 OR4D5 219875 broad.mit.edu 37 11 123810407 123810407 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:123810407C>T uc001pzk.1 + 0 84 c.84C>T c.(82-84)ttC>ttT p.F28F NM_001001965 NP_001001965 Q8NGN0 OR4D5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA. 28 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 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) TTGTTTTCTTCACTGTTTTCT 0.453000 18 44 0 0 0.0025221 0 0 C5orf42 65250 broad.mit.edu 37 5 37157847 37157847 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr5:37157847G>A uc011cpa.1 - 39 8113 c.7882C>T c.(7882-7884)Cca>Tca p.P2628S C5orf42_uc003jkp.1_Non-coding_Transcript|C5orf42_uc011coy.1_Missense_Mutation_p.P1146S|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.P1721S NM_023073 NP_075561 E9PH94 E9PH94_HUMAN Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA. 2628 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) GCAGACGATGGAACTGCTAGA 0.363000 58 25 0 0 0.00127121 0 0 GPR111 222611 broad.mit.edu 37 6 47654739 47654739 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr6:47654739C>T uc003oyy.3 + 7 2151 c.1875C>T c.(1873-1875)atC>atT p.I625I GPR115_uc003oyz.1_Intron NM_153839 NP_722581 Q8IZF7 GP111_HUMAN Homo sapiens G protein-coupled receptor 111 (GPR111), mRNA. 0 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 GTTTCTTCATCCTAGTGTTTG 0.358000 81 30 0 0 0.00111076 0 0 LLGL2 3993 broad.mit.edu 37 17 73567847 73567847 + Missense_Mutation SNP C T T rs150971482 TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr17:73567847C>T uc002joh.3 + 17 2430 c.2276C>T c.(2275-2277)cCt>cTt p.P759L LLGL2_uc002joi.3_Missense_Mutation_p.P759L|LLGL2_uc010dgg.2_Missense_Mutation_p.P759L|LLGL2_uc002joj.3_Missense_Mutation_p.P748L|LLGL2_uc010wsd.2_Missense_Mutation_p.P386L NM_001031803 NP_001026973 Q6P1M3 L2GL2_HUMAN Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA. 759 P -> S (in dbSNP:rs1661715). cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) ATGGATGAGCCTGTGCGGGCA 0.701000 20 14 0 0 0.000422831 0 0 PRKCB 5579 broad.mit.edu 37 16 24192196 24192196 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr16:24192196G>A uc002dmd.3 + 12 1677 c.1480G>A c.(1480-1482)Gat>Aat p.D494N PRKCB_uc002dme.3_Missense_Mutation_p.D494N NM_212535 NP_997700 P05771 KPCB_HUMAN Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA. 494 Protein kinase. B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) AAACATCTGGGATGGGGTGAC 0.507000 47 34 0 0 0.00058488 0 0 KIAA1161 57462 broad.mit.edu 37 9 34372240 34372240 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr9:34372240C>T uc003zue.4 - 2 866 c.699G>A c.(697-699)gcG>gcA p.A233A NM_020702 NP_065753 Q6NSJ0 K1161_HUMAN Homo sapiens KIAA1161 (KIAA1161), mRNA. 234 carbohydrate metabolic process integral to membrane hydrolase activity, hydrolyzing O-glycosyl compounds breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1) 12 LUSC - Lung squamous cell carcinoma(29;0.0107) GBM - Glioblastoma multiforme(74;0.126) TGATGGCGGCCGCGCGCGAAG 0.652000 4 3 0 0 0.00024832 0 0 PTK2 5747 broad.mit.edu 37 8 141745357 141745357 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:141745357G>A uc003yvu.3 - 21 2333 c.2023C>T c.(2023-2025)Cag>Tag p.Q675* PTK2_uc003yvo.3_Nonsense_Mutation_p.Q303*|PTK2_uc011ljq.2_Nonsense_Mutation_p.Q370*|PTK2_uc003yvp.3_Nonsense_Mutation_p.Q343*|PTK2_uc003yvq.3_Nonsense_Mutation_p.Q201*|PTK2_uc003yvr.3_Nonsense_Mutation_p.Q615*|PTK2_uc003yvs.3_Nonsense_Mutation_p.Q675*|PTK2_uc011ljr.2_Nonsense_Mutation_p.Q675*|PTK2_uc003yvt.3_Nonsense_Mutation_p.Q697*|PTK2_uc003yvv.3_Nonsense_Mutation_p.Q575*|Mir_28_uc022bbw.1_5'Flank NM_153831 NP_722560 Q05397 FAK1_HUMAN Homo sapiens PTK2 protein tyrosine kinase 2 (PTK2), transcript variant 1, mRNA. 675 Protein kinase. axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly cytoskeleton|cytosol|focal adhesion ATP binding|JUN kinase binding|SH2 domain binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 48 all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;2.72e-05)|Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.137) TACCTGAGCTGAGCTTTAAGT 0.522000 10 7 0 0 0.00198382 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68248162 68248162 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr14:68248162G>A uc001xka.2 - 21 4596 c.4457C>T c.(4456-4458)cCc>cTc p.P1486L ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Missense_Mutation_p.P1486L NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA. 1486 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) TGACTCCAGGGGCCACCTGTC 0.517000 32 32 0 0 0.000692331 0 0 KIAA1257 57501 broad.mit.edu 37 3 128695841 128695841 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:128695841C>T uc003elj.4 - 5 1073 c.877G>A c.(877-879)Gac>Aac p.D293N KIAA1257_uc003elg.1_Missense_Mutation_p.D293N|KIAA1257_uc003eli.4_Missense_Mutation_p.D181N NM_020741 NP_065792 Q9ULG3 K1257_HUMAN Homo sapiens KIAA1257 (KIAA1257), mRNA. 293 breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2) 14 GAAGAATCGTCCATTTTGAGG 0.438000 26 13 0 0 0.00244969 0 0 ADAM22 53616 broad.mit.edu 37 7 87759716 87759716 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:87759716G>A uc003ujn.3 + 9 982 c.767G>A c.(766-768)cGg>cAg p.R256Q ADAM22_uc003ujj.2_Missense_Mutation_p.R256Q|ADAM22_uc003ujk.2_Missense_Mutation_p.R256Q|ADAM22_uc003ujl.2_Missense_Mutation_p.R256Q|ADAM22_uc003ujm.3_Missense_Mutation_p.R256Q|ADAM22_uc003ujo.3_Missense_Mutation_p.R256Q|ADAM22_uc003ujp.1_Missense_Mutation_p.R308Q NM_021723 NP_068369 Q9P0K1 ADA22_HUMAN Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA. 256 Peptidase M12B. cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding p.H255H(1) endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3) 53 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) AAAAAACATCGGCTTTCCGTT 0.368000 59 30 0 0 0.00058488 0 0 HRNR 388697 broad.mit.edu 37 1 152188506 152188506 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:152188506G>A uc001ezt.1 - 2 5675 c.5599C>T c.(5599-5601)Cag>Tag p.Q1867* NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN Homo sapiens hornerin (HRNR), mRNA. 1867 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCAGAAGACTGACCTGAGCCA 0.577000 723 26 0 0 0.00209593 0 0 PADI1 29943 broad.mit.edu 37 1 17557156 17557156 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:17557156C>T uc001bah.1 + 9 1235 c.1143C>T c.(1141-1143)ttC>ttT p.F381F PADI1_uc010oco.1_5'Flank|PADI1_uc010ocp.1_5'Flank|PADI1_uc010ocq.1_5'Flank NM_013358 NP_037490 Q9ULC6 PADI1_HUMAN Homo sapiens peptidyl arginine deiminase, type I (PADI1), mRNA. 381 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 28 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197) L-Citrulline(DB00155) TGAAAGATTTCCCCTATAAGA 0.567000 11 7 0 0 0.000157383 0 0 DYSF 8291 broad.mit.edu 37 2 71743372 71743372 + Splice_Site SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:71743372G>A uc010fen.3 + 9 1092 c.951_splice c.e9+1 p.T317_splice DYSF_uc010fei.3_Splice_Site_p.T316_splice|DYSF_uc010feh.3_Splice_Site_p.T285_splice|DYSF_uc002sig.4_Splice_Site_p.T285_splice|DYSF_uc010yqx.2_Splice_Site|DYSF_uc010feg.3_Splice_Site_p.T316_splice|DYSF_uc010fee.3_Splice_Site_p.T285_splice|DYSF_uc010fef.3_Splice_Site_p.T316_splice|DYSF_uc002sie.3_Splice_Site_p.T285_splice|DYSF_uc010feo.3_Splice_Site_p.T317_splice|DYSF_uc010fej.3_Splice_Site_p.T286_splice|DYSF_uc010fel.3_Splice_Site_p.T286_splice|DYSF_uc010fem.3_Splice_Site_p.T286_splice|DYSF_uc002sif.3_Splice_Site_p.T286_splice|DYSF_uc010fek.3_Splice_Site_p.T317_splice NM_001130987 NP_001124459 O75923 DYSF_HUMAN Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA. 285 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 TCTTTATCACGGTATGTCTCA 0.488000 11 8 0 0 0.000274275 0 0 LRFN2 57497 broad.mit.edu 37 6 40359697 40359697 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr6:40359697C>T uc003oph.1 - 2 2820 c.2355G>A c.(2353-2355)atG>atA p.M785I NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA. 785 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) CCGTGCTCTCCATCACCCATT 0.597000 26 11 0 0 0.00136819 0 0 C12orf36 283422 broad.mit.edu 37 12 13529288 13529288 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:13529288G>A uc001rbs.2 - 1 304 c.52C>T c.(52-54)Cct>Tct p.P18S Homo sapiens chromosome 12 open reading frame 36 (C12orf36), non-coding RNA. lung(3)|skin(3) 6 BRCA - Breast invasive adenocarcinoma(232;0.198) taaaaggcagggtgggaacag 0.433000 10 5 0 0 0.000602214 0 0 NKTR 4820 broad.mit.edu 37 3 42679340 42679340 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:42679340C>T uc003clo.3 + 12 2291 c.2144C>T c.(2143-2145)tCa>tTa p.S715L NKTR_uc003clm.1_Missense_Mutation_p.S462L|NKTR_uc011azp.2_Intron|NKTR_uc003clp.3_Missense_Mutation_p.S462L|NKTR_uc003clq.1_Missense_Mutation_p.S605L|NKTR_uc003clr.1_Missense_Mutation_p.S462L|NKTR_uc003cls.3_Missense_Mutation_p.S415L NM_005385 NP_005376 P30414 NKTR_HUMAN Homo sapiens natural killer-tumor recognition sequence (NKTR), mRNA. 715 Arg/Ser-rich. protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 41 KIRC - Kidney renal clear cell carcinoma(284;0.24) CTAGCTAGTTCACATTCAAGG 0.378000 25 40 0 0 0.000781405 0 0 GCN1L1 10985 broad.mit.edu 37 12 120578761 120578761 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:120578761G>A uc001txo.3 - 44 5909 c.5896C>T c.(5896-5898)Ccc>Tcc p.P1966S NM_006836 NP_006827 Q92616 GCN1L_HUMAN Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA. 1966 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TCAAGGATGGGGATGATCTCG 0.532000 22 78 0 0 0.000781405 0 0 SLC20A2 6575 broad.mit.edu 37 8 42297144 42297144 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:42297144G>A uc003xpe.3 - 6 1127 c.758C>T c.(757-759)tCa>tTa p.S253L SLC20A2_uc010lxl.3_Missense_Mutation_p.S253L|SLC20A2_uc010lxm.3_Missense_Mutation_p.S253L|SLC20A2_uc011lcu.2_Missense_Mutation_p.S55L NM_006749 NP_006740 Q08357 S20A2_HUMAN Homo sapiens solute carrier family 20 (phosphate transporter), member 2 (SLC20A2), mRNA. 253 interspecies interaction between organisms integral to plasma membrane|membrane fraction inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1) 26 all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211) all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869) AGATACTCGTGATAAAGCACC 0.393000 44 26 0 0 0.001512 0 0 TIAM1 7074 broad.mit.edu 37 21 32493137 32493137 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr21:32493137G>A uc002yow.1 - 28 4797 c.4325C>T c.(4324-4326)tCt>tTt p.S1442F TIAM1_uc011adk.1_3'UTR|TIAM1_uc011adl.1_Missense_Mutation_p.S1382F NM_003253 NP_003244 Q13009 TIAM1_HUMAN Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA. 1442 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 CCTCCCAAGAGACTTGCTTGG 0.522000 14 6 0 0 0.00116845 0 0 MURC 347273 broad.mit.edu 37 9 103340465 103340465 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr9:103340465C>T uc004bba.3 + 0 130 c.40C>T c.(40-42)Cac>Tac p.H14Y NM_001018116 NP_001018126 Q5BKX8 MURC_HUMAN Homo sapiens muscle-related coiled-coil protein (MURC), mRNA. 14 cell differentiation|muscle organ development|transcription, DNA-dependent endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1) 16 Acute lymphoblastic leukemia(62;0.0461) TGATAAAATCCACCAGAATCG 0.433000 11 22 0 0 0.00047179 0 0 DNAH7 56171 broad.mit.edu 37 2 196661442 196661442 + Missense_Mutation SNP A G G TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:196661442A>G uc002utj.4 - 55 10474 c.10373T>C c.(10372-10374)cTt>cCt p.L3458P DNAH7_uc002uti.4_5'Flank NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 3458 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.K3457I(1) NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TAAAGAGCTAAGTTTTGATCC 0.348000 42 5 0 0 0.000602214 0 0 ZNF711 7552 broad.mit.edu 37 X 84526624 84526624 + Silent SNP A G G TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chrX:84526624A>G uc004eeq.3 + 9 3100 c.2214A>G c.(2212-2214)aaA>aaG p.K738K ZNF711_uc004eep.3_Silent_p.K692K|ZNF711_uc004eeo.3_Silent_p.K692K|ZNF711_uc011mqy.1_Silent_p.K291K NM_021998 NP_068838 Q9Y462 ZN711_HUMAN Homo sapiens zinc finger protein 711 (ZNF711), mRNA. 692 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4) 28 ATGAGCTAAAAAAACATATGA 0.358000 34 11 0 0 0.000673444 0 0 ANO6 196527 broad.mit.edu 37 12 45797003 45797004 + Nonsense_Mutation DNP GG TT TT TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:45797003_45797004GG>TT uc010slf.2 + 14 2159_2160 c.1824_1825GG>TT c.(1822-1827)ttggga>ttTTga p.608_609LG>F* ANO6_uc001roo.3_Nonsense_Mutation_p.587_588LG>F*|ANO6_uc010sld.1_Nonsense_Mutation_p.587_588LG>F*|ANO6_uc010sle.1_Nonsense_Mutation_p.587_588LG>F*|ANO6_uc010slg.2_Nonsense_Mutation_p.569_570LG>F* NM_001204803 NP_001191732 Q4KMQ2 ANO6_HUMAN Homo sapiens anoctamin 6 (ANO6), transcript variant 5, mRNA. 587 activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet chloride channel complex|plasma membrane chloride channel activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 TTTATTGGTTGGGAAAATACAG 0.342000 71 6 0 0 6.4e-05 0 0 C11orf16 56673 broad.mit.edu 37 11 8942945 8942945 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:8942945G>A uc001mhb.4 - 5 1446 c.1322C>T c.(1321-1323)cCg>cTg p.P441L C11orf16_uc001mhc.4_Intron NM_020643 NP_065694 Q9NQ32 CK016_HUMAN Homo sapiens chromosome 11 open reading frame 16 (C11orf16), mRNA. 441 p.P440Q(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 22 Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234) CGGGGTCCGCGGTGGCTTCAT 0.517000 43 28 0 0 0.001512 0 0 RRP15 51018 broad.mit.edu 37 1 218475769 218475769 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:218475769C>T uc001hlj.3 + 1 303 c.273C>T c.(271-273)ggC>ggT p.G91G NM_016052 NP_057136 Q9Y3B9 RRP15_HUMAN Homo sapiens ribosomal RNA processing 15 homolog (S. cerevisiae) (RRP15), mRNA. 91 mitochondrion|nucleolus protein binding ACBD6/RRP15(2) NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 14 all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248) CTAATATGGGCTGGGCAGATG 0.408000 41 14 0 0 0.00244969 0 0 KIFC1 3833 broad.mit.edu 37 6 33371517 33371517 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr6:33371517C>T uc003oef.4 + 5 817 c.367C>T c.(367-369)Cct>Tct p.P123S KIFC1_uc011drf.2_Intron NM_002263 NP_002254 Q9BW19 KIFC1_HUMAN Homo sapiens kinesin family member C1 (KIFC1), mRNA. 123 blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle ATP binding|microtubule motor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 13 ATCAGGTGTTCCTCCCATGGC 0.498000 17 23 0 0 0.00047179 0 0 PRSS1 5644 broad.mit.edu 37 7 142459661 142459661 + Missense_Mutation SNP A C C TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:142459661A>C uc003wak.2 + 2 254 c.237A>C c.(235-237)gaA>gaC p.E79D TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Missense_Mutation_p.E19D NM_002769 NP_002760 P07477 TRY1_HUMAN Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA. 79 Peptidase S1. E -> K (in PCTT; Lys-79 trypsin activates anionic trypsinogen PRSS2 2-fold while the common pancreatitis-associated mutants His-122 or Ile-29 have no such effect; dbSNP:rs28934902). digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) ACAACATCGAAGTCCTGGAGG 0.547000 115 7 0 0 0.00198382 0 0 TM6SF1 53346 broad.mit.edu 37 15 83791524 83791524 + Missense_Mutation SNP G A A rs142876988 TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr15:83791524G>A uc002bjp.3 + 5 606 c.497G>A c.(496-498)cGa>cAa p.R166Q TM6SF1_uc010bmq.3_Missense_Mutation_p.R166Q|TM6SF1_uc002bjq.3_Intron|TM6SF1_uc010bmr.3_Intron|TM6SF1_uc002bjr.3_Missense_Mutation_p.R18Q NM_023003 NP_075379 Q9BZW5 TM6S1_HUMAN Homo sapiens transmembrane 6 superfamily member 1 (TM6SF1), transcript variant 1, mRNA. 166 integral to membrane p.R166Q(2)|p.T165R(1) endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 15 TATGGAACACGAATTTGCCCT 0.368000 43 27 0 0 0.00127121 0 0 OR4K1 79544 broad.mit.edu 37 14 20404050 20404050 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr14:20404050C>T uc001vwj.2 + 0 284 c.225C>T c.(223-225)aaC>aaT p.N75N NM_001004063 NP_001004063 Q8NGD4 OR4K1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA. 75 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.N75K(2) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) GTCAGTCTAACTTTGCCACCC 0.378000 140 15 0 0 0.000308642 0 0 FBLN2 2199 broad.mit.edu 37 3 13679197 13679197 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:13679197C>T uc011avc.2 + 17 3856 c.3474C>T c.(3472-3474)gcC>gcT p.A1158A FBLN2_uc011auz.2_Silent_p.A1137A|FBLN2_uc011avb.2_Silent_p.A1111A|FBLN2_uc011ava.2_Silent_p.A1158A NM_001165035 NP_001158507 P98095 FBLN2_HUMAN Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA. 1111 Domain III. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) CCGCGCCAGCCTTCACGGGGG 0.622000 8 4 0 0 0.000602214 0 0 PCDH20 64881 broad.mit.edu 37 13 61987393 61987393 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr13:61987393C>T uc001vid.4 - 1 1203 c.839G>A c.(838-840)aGg>aAg p.R280K PCDH20_uc010thj.2_Missense_Mutation_p.R280K NM_022843 NP_073754 Q8N6Y1 PCD20_HUMAN Homo sapiens protocadherin 20 (PCDH20), mRNA. 253 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 58 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) CTGGGTTTCCCTGTCCAAAGC 0.522000 25 20 0 0 0.000958276 0 0 HAO2 51179 broad.mit.edu 37 1 119936430 119936430 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:119936430C>T uc001ehr.1 + 7 1155 c.1023C>T c.(1021-1023)atC>atT p.I341I HAO2_uc001ehq.1_Silent_p.I341I NM_016527 NP_057611 Q9NYQ3 HAOX2_HUMAN Homo sapiens hydroxyacid oxidase 2 (long chain) (HAO2), transcript variant 1, mRNA. 341 FMN hydroxy acid dehydrogenase. fatty acid alpha-oxidation peroxisome (S)-2-hydroxy-acid oxidase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 30 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856) TCGCTGAGATCAATCGAAACT 0.473000 80 45 0 0 0.000781405 0 0 DSP 1832 broad.mit.edu 37 6 7569418 7569418 + Splice_Site SNP G A A rs34543842 TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr6:7569418G>A uc003mxp.1 + 12 1699 c.1420_splice c.e12-1 p.K474_splice DSP_uc003mxq.1_Splice_Site_p.K474_splice|DSP_uc021yle.1_Splice_Site_p.K474_splice NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 474 Globular 1.|Interacts with plakophilin 1 and junction plakoglobin. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TTGCCTTACAGAAAATCGTGC 0.448000 49 38 0 0 0.00285205 0 0 ANPEP 290 broad.mit.edu 37 15 90348422 90348422 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr15:90348422G>A uc002bop.4 - 3 1076 c.784C>T c.(784-786)Ccc>Tcc p.P262S NM_001150 NP_001141 P15144 AMPN_HUMAN Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA. 262 Interaction with HCoV-229E.|Metalloprotease. angiogenesis|cell differentiation|interspecies interaction between organisms ER-Golgi intermediate compartment|cytosol|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 57 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) TTCCAGTTGGGGTCTTCTGGA 0.607000 84 39 0 0 0.000680045 0 0 XIRP2 129446 broad.mit.edu 37 2 168100889 168100889 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:168100889G>A uc002udx.3 + 8 3076 c.2987G>A c.(2986-2988)gGa>gAa p.G996E XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.G821E|XIRP2_uc010fpq.3_Missense_Mutation_p.G774E|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 821 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GATCCCCTTGGAAAATATCAT 0.403000 30 22 0 0 0.000586117 0 0 HCN1 348980 broad.mit.edu 37 5 45462025 45462025 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr5:45462025C>T uc003jok.3 - 2 959 c.934G>A c.(934-936)Gat>Aat p.D312N NM_021072 NP_066550 O60741 HCN1_HUMAN Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA. 312 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity p.D312N(2) NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 AGACAACCATCCCAGTGGCAC 0.413000 18 19 0 0 0.00121646 0 0 CSMD1 64478 broad.mit.edu 37 8 3216769 3216769 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:3216769G>A uc022aqr.1 - 20 3599 c.3209C>T c.(3208-3210)tCc>tTc p.S1070F CSMD1_uc011kwj.2_Missense_Mutation_p.S463F|CSMD1_uc003wqe.3_Missense_Mutation_p.S227F NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 1071 Sushi 6. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CAGGAAGCAGGAAAACGTCAG 0.557000 20 29 0 0 0.00178596 0 0 RGS7 6000 broad.mit.edu 37 1 240975228 240975228 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:240975228C>T uc001hyt.2 - 6 622 c.568G>A c.(568-570)Gaa>Aaa p.E190K RGS7_uc010pyh.2_Missense_Mutation_p.E332K|RGS7_uc010pyj.1_Missense_Mutation_p.E274K|RGS7_uc001hyu.2_Missense_Mutation_p.E358K|RGS7_uc009xgn.1_Missense_Mutation_p.E305K|RGS7_uc001hyv.2_Missense_Mutation_p.E358K|RGS7_uc001hyw.2_Missense_Mutation_p.E358K NM_002924 NP_002915 P49802 RGS7_HUMAN Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA. 358 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) CTTAAATTTTCCGAGCTGAAT 0.398000 27 34 0 0 0.000814825 0 0 MUC16 94025 broad.mit.edu 37 19 9069754 9069754 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 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 20 34 0 0 0.000692331 0 0 KIAA1199 57214 broad.mit.edu 37 15 81224217 81224217 + Missense_Mutation SNP G A A rs141395577 TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr15:81224217G>A uc002bfw.1 + 20 2890 c.2630G>A c.(2629-2631)gGa>gAa p.G877E KIAA1199_uc010unn.1_Missense_Mutation_p.G877E NM_018689 NP_061159 Q8WUJ3 K1199_HUMAN Homo sapiens KIAA1199 (KIAA1199), mRNA. 877 p.G877E(2) 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 CCAATTAGAGGAATTCAGTTA 0.473000 55 31 0 0 0.00283554 0 0 PCNT 5116 broad.mit.edu 37 21 47831878 47831878 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr21:47831878C>T uc002zji.4 + 27 5998 c.5891C>T c.(5890-5892)gCc>gTc p.A1964V PCNT_uc002zjj.3_Missense_Mutation_p.A1846V NM_006031 NP_006022 O95613 PCNT_HUMAN Homo sapiens pericentrin (PCNT), mRNA. 1964 G2/M transition of mitotic cell cycle|cilium assembly cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) GTGCCCGGGGCCCACCCACAG 0.697000 11 5 0 0 0.000602214 0 0 SDK1 221935 broad.mit.edu 37 7 4152925 4152925 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:4152925C>T uc003smx.3 + 23 3578 c.3439C>T c.(3439-3441)Cga>Tga p.R1147* SDK1_uc010kso.3_Nonsense_Mutation_p.R423* NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA. 1147 Fibronectin type-III 5. cell adhesion integral to membrane p.R1147*(2) NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CTTTAGATTTCGAATGAAGCA 0.537000 153 76 0 0 0.000781405 0 0 RAPGEF6 51735 broad.mit.edu 37 5 131066709 131066709 + Missense_Mutation SNP A C C TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr5:131066709A>C uc003kvs.1 - 2 384 c.242T>G c.(241-243)gTt>gGt p.V81G RAPGEF6_uc003kvp.2_Intron|RAPGEF6_uc003kvt.1_Missense_Mutation_p.V81G|RAPGEF6_uc010jdm.1_Intron|RAPGEF6_uc003kvu.3_Missense_Mutation_p.V81G NM_133372 NP_588613 Q8TEU7 RPGF6_HUMAN Homo sapiens folliculin interacting protein 1 (FNIP1), transcript variant 1, mRNA. 0 Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1) 31 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) AAAGACTTTAACTTGAGCATC 0.348000 13 38 0 0 0.0025221 0 0 TMEM39B 55116 broad.mit.edu 37 1 32560459 32560459 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:32560459C>T uc010ogv.2 + 6 1148 c.1002C>T c.(1000-1002)ctC>ctT p.L334L TMEM39B_uc010ogt.1_Non-coding_Transcript|TMEM39B_uc010ogu.1_Silent_p.L207L|TMEM39B_uc001buf.4_Silent_p.L135L|TMEM39B_uc010ogw.2_Silent_p.L135L NM_018056 NP_060526 Q9GZU3 TM39B_HUMAN Homo sapiens transmembrane protein 39B (TMEM39B), mRNA. 334 integral to membrane p.Y334C(1) endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2) 11 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) CCGTGATCCTCATGCAGCACC 0.602000 37 29 0 0 0.00209593 0 0 HOXB5 3215 broad.mit.edu 37 17 46670776 46670776 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr17:46670776G>A uc002inr.3 - 0 328 c.269C>T c.(268-270)tCg>tTg p.S90L HOXB-AS3_uc021tzg.1_Intron|HOXB-AS3_uc021tzh.1_Intron|HOXB-AS3_uc021tzi.1_Intron|HOXB-AS3_uc021tzj.1_Intron|HOXB-AS3_uc021tzk.1_5'Flank NM_002147 NP_002138 P09067 HXB5_HUMAN Homo sapiens homeobox B5 (HOXB5), mRNA. 90 nucleus sequence-specific DNA binding large_intestine(1)|lung(2) 3 GGAGCAGCTCGAAGCCGCTTG 0.726000 1 12 0 0 0.000978159 0 0 CLEC5A 23601 broad.mit.edu 37 7 141635712 141635712 + Missense_Mutation SNP A T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:141635712A>T uc003vwv.1 - 4 444 c.247T>A c.(247-249)Ttt>Att p.F83I CLEC5A_uc011krm.1_Missense_Mutation_p.F60I|CLEC5A_uc003vww.1_Missense_Mutation_p.F83I|CLEC5A_uc010lnq.1_Missense_Mutation_p.F60I|CLEC5A_uc010lnr.1_Intron NM_013252 NP_037384 Q9NY25 CLC5A_HUMAN Homo sapiens C-type lectin domain family 5, member A (CLEC5A), mRNA. 83 C-type lectin. anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development cell surface|integral to plasma membrane sugar binding|viral receptor activity endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1) 10 Melanoma(164;0.0171) GATAAGAAAAAACATCTTGCT 0.418000 34 31 0 0 0.00209593 0 0 RAB7L1 8934 broad.mit.edu 37 1 205739492 205739492 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:205739492G>A uc001hdf.4 - 5 930 c.590C>T c.(589-591)tCc>tTc p.S197F RAB7L1_uc009xbp.3_Missense_Mutation_p.S125F|RAB7L1_uc001hde.4_Missense_Mutation_p.S197F|RAB7L1_uc010prr.2_Missense_Mutation_p.S173F|RAB7L1_uc009xbq.3_Non-coding_Transcript NM_003929 NP_001129136 O14966 RAB7L_HUMAN Homo sapiens RAB7, member RAS oncogene family-like 1 (RAB7L1), transcript variant 1, mRNA. 197 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.S197S(1) endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1) 10 Breast(84;0.0799) BRCA - Breast invasive adenocarcinoma(75;0.0194) CCAGCTGGAGGACTTGGTTTG 0.433000 33 9 0 0 0.000673444 0 0 HGF 3082 broad.mit.edu 37 7 81381514 81381514 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:81381514C>T uc003uhl.3 - 4 712 c.547G>A c.(547-549)Gaa>Aaa p.E183K HGF_uc003uhm.3_Missense_Mutation_p.E178K|HGF_uc003uhn.1_Missense_Mutation_p.E183K|HGF_uc003uho.1_Missense_Mutation_p.E178K|HGF_uc003uhp.3_Missense_Mutation_p.E183K NM_000601 NP_000592 P14210 HGF_HUMAN Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA. 183 Kringle 1. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 CCCCCTTCTTCCCCTCGAGGA 0.438000 49 15 0 0 0.000566183 0 0 SPTA1 6708 broad.mit.edu 37 1 158585152 158585152 + Silent SNP G T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:158585152G>T uc001fst.1 - 47 6841 c.6642C>A c.(6640-6642)acC>acA p.T2214T NM_003126 NP_003117 P02549 SPTA1_HUMAN Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA. 2214 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CCACAATCTTGGTTAGTTGAC 0.483000 123 53 3.84483e-29 1.55398e-28 0.000781405 1 0 PCSK5 5125 broad.mit.edu 37 9 78803520 78803520 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr9:78803520C>T uc004akc.2 + 17 2847 c.2309C>T c.(2308-2310)tCc>tTc p.S770F PCSK5_uc004ajz.3_Missense_Mutation_p.S770F|PCSK5_uc004aka.3_Non-coding_Transcript|PCSK5_uc004akb.3_Missense_Mutation_p.S44F NM_001190482 NP_001177411 Q92824 PCSK5_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA. 770 CRM (Cys-rich motif). anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release Golgi lumen|extracellular space|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 TGCTCTGTCTCCTGTGAAGAT 0.517000 13 24 0 0 0.00106085 0 0 WDFY3 23001 broad.mit.edu 37 4 85676491 85676491 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr4:85676491G>A uc003hpd.3 - 33 5895 c.5487C>T c.(5485-5487)gtC>gtT p.V1829V NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA. 1829 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) GGATAGAAGAGACCACAGTTC 0.443000 30 29 0 0 0.00209593 0 0 MUC16 94025 broad.mit.edu 37 19 9091259 9091259 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:9091259G>A uc002mkp.3 - 0 760 c.556C>T c.(556-558)Cct>Tct p.P186S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 186 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.P186S(3)|p.I185I(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 ATTTTTACAGGAATATATCTT 0.473000 22 29 0 0 0.00127121 0 0 OR2L3 391192 broad.mit.edu 37 1 248224841 248224841 + Silent SNP C G G TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:248224841C>G uc001idx.1 + 0 858 c.858C>G c.(856-858)ccC>ccG p.P286P OR2L13_uc001ids.3_Intron NM_001004687 NP_001004687 Q8NG85 OR2L3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA. 286 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P286P(2) cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1) 41 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) TGCTCAACCCCATCATCTATA 0.488000 66 6 0 0 0.00116845 0 0 IARS2 55699 broad.mit.edu 37 1 220311351 220311351 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:220311351C>T uc001hmc.3 + 16 2245 c.2141C>T c.(2140-2142)tCc>tTc p.S714F NM_018060 NP_060530 Q9NSE4 SYIM_HUMAN Homo sapiens isoleucyl-tRNA synthetase 2, mitochondrial (IARS2), nuclear gene encoding mitochondrial protein, mRNA. 714 isoleucyl-tRNA aminoacylation mitochondrial matrix ATP binding|isoleucine-tRNA ligase activity NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 GBM - Glioblastoma multiforme(131;0.0554) L-Isoleucine(DB00167) ATTGGCCCATCCGTGCTCAAT 0.408000 69 28 0 0 0.000878237 0 0 CSMD1 64478 broad.mit.edu 37 8 3565998 3565998 + Missense_Mutation SNP T C C TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:3565998T>C uc022aqr.1 - 6 1337 c.947A>G c.(946-948)gAg>gGg p.E316G NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 316 integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TGACTTCAACTCAATCGCCTT 0.438000 55 6 0 0 0.000274275 0 0 PDE1A 5136 broad.mit.edu 37 2 183129112 183129112 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:183129112C>T uc002uos.3 - 2 215 c.131G>A c.(130-132)aGa>aAa p.R44K PDE1A_uc010zfp.1_5'UTR|PDE1A_uc002uoq.1_Missense_Mutation_p.R44K|PDE1A_uc010zfq.1_Missense_Mutation_p.R44K|PDE1A_uc002uor.3_Missense_Mutation_p.R28K|PDE1A_uc002uov.1_Non-coding_Transcript NM_001003683 NP_001003683 P54750 PDE1A_HUMAN Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA. 44 Calmodulin-binding (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(117;0.061) AACATCACCTCTTTCCAGCTG 0.363000 43 29 0 0 0.001512 0 0 BCAM 4059 broad.mit.edu 37 19 45323972 45323972 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:45323972G>A uc002ozu.3 + 13 1818 c.1774G>A c.(1774-1776)Gag>Aag p.E592K NM_005581 NP_005572 P50895 BCAM_HUMAN Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA. 592 cell-matrix adhesion integral to plasma membrane laminin binding|laminin receptor activity central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Lung NSC(12;0.000789)|all_lung(12;0.00218) Ovarian(192;0.0728)|all_neural(266;0.112) GCCGCCAGGGGAGCCAGGGCT 0.716000 14 9 0 0 0.00136819 0 0 ZFP64 55734 broad.mit.edu 37 20 50769429 50769429 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr20:50769429G>A uc002xwl.3 - 5 1651 c.1302C>T c.(1300-1302)ttC>ttT p.F434F ZFP64_uc002xwk.3_Intron|ZFP64_uc002xwm.3_Silent_p.F432F|ZFP64_uc002xwn.3_Silent_p.F380F NM_018197 NP_060667 Q9NPA5 ZF64A_HUMAN Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 1, mRNA. 434 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 33 CCTCCCGCATGAAGGAGGCAT 0.572000 33 15 0 0 0.00244969 0 0 DSG3 1830 broad.mit.edu 37 18 29046629 29046629 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr18:29046629G>A uc002kws.3 + 10 1657 c.1548G>A c.(1546-1548)ctG>ctA p.L516L NM_001944 NP_001935 P32926 DSG3_HUMAN Homo sapiens desmoglein 3 (DSG3), mRNA. 516 cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding p.L516L(2) breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CTAGAACACTGAATAATAGAT 0.443000 67 35 0 0 0.00283554 0 0 RSU1 6251 broad.mit.edu 37 10 16794967 16794967 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr10:16794967C>T uc001iok.3 - 4 735 c.433G>A c.(433-435)Gat>Aat p.D145N RSU1_uc001iol.3_Missense_Mutation_p.D145N|RSU1_uc001iom.3_Missense_Mutation_p.D92N|RSU1_uc001ion.3_Missense_Mutation_p.D145N NM_152724 NP_689937 Q15404 RSU1_HUMAN Homo sapiens Ras suppressor protein 1 (RSU1), transcript variant 2, mRNA. 145 cell junction assembly|signal transduction cytosol protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1) 14 GBM - Glioblastoma multiforme(1;7.54e-08) ATTTCAAAATCGTTGTCACTT 0.398000 12 20 0 0 0.00278032 0 0 LILRA1 11024 broad.mit.edu 37 19 55107226 55107226 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:55107226G>A uc002qgh.1 + 5 966 c.784G>A c.(784-786)Gaa>Aaa p.E262K LILRA1_uc010yfg.1_Missense_Mutation_p.E260K|LILRA1_uc010yfh.2_Missense_Mutation_p.E262K NM_006863 NP_006854 O75019 LIRA1_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA. 262 Ig-like C2-type 3. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) TAAGGAGGGAGAACGTGACTT 0.612000 52 29 0 0 0.00283554 0 0 ITFG3 83986 broad.mit.edu 37 16 304619 304619 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr16:304619C>T uc002cgf.3 + 2 402 c.207C>T c.(205-207)gtC>gtT p.V69V LUC7L_uc021szo.1_Intron|ITFG3_uc010bqr.2_Intron|ITFG3_uc002cgg.2_Silent_p.V69V|ITFG3_uc010uud.1_Non-coding_Transcript|ITFG3_uc002cgh.3_Silent_p.V69V NM_032039 NP_114428 Q9H0X4 ITFG3_HUMAN Homo sapiens integrin alpha FG-GAP repeat containing 3 (ITFG3), mRNA. 69 integral to membrane central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 16 all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13) TCTCATTCGTCATCCCGTGTC 0.607000 126 79 0 0 0.000781405 0 0 KCTD14 65987 broad.mit.edu 37 11 77728170 77728170 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:77728170G>A uc001oyw.4 - 1 262 c.237C>T c.(235-237)atC>atT p.I79I NDUFC2-KCTD14_uc021qnr.1_3'UTR|NDUFC2-KCTD14_uc021qns.1_3'UTR|NDUFC2-KCTD14_uc021qnt.1_3'UTR NM_023930 NP_076419 Q9BQ13 KCD14_HUMAN Homo sapiens potassium channel tetramerisation domain containing 14 (KCTD14), mRNA. 79 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 15 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1e-24) TGGGGCGGTCGATGAAGAAGC 0.597000 32 8 0 0 0.000157383 0 0 SH2D3C 10044 broad.mit.edu 37 9 130507374 130507374 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr9:130507374G>A uc004bsc.3 - 6 1411 c.1269C>T c.(1267-1269)acC>acT p.T423T SH2D3C_uc010mxo.3_Silent_p.T263T|SH2D3C_uc004bry.3_Silent_p.T265T|SH2D3C_uc004brz.4_Silent_p.T69T|SH2D3C_uc011mak.2_Silent_p.T69T|SH2D3C_uc004bsb.3_Silent_p.T355T|SH2D3C_uc004bsa.3_Silent_p.T266T NM_170600 NP_733745 Q8N5H7 SH2D3_HUMAN Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA. 423 JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CATGGACACGGGTTACTGCAG 0.627000 8 5 0 0 0.00116845 0 0 DNAH5 1767 broad.mit.edu 37 5 13737541 13737541 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr5:13737541C>T uc003jfd.2 - 65 11317 c.11275G>A c.(11275-11277)Gaa>Aaa p.E3759K DNAH5_uc003jfc.2_Intron NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3759 AAA 5 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.K3758K(1) 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) TCTTCTAGTTCCTTCATCCTT 0.383000 Kartagener syndrome 54 44 0 0 0.00222228 0 0 BIRC6 57448 broad.mit.edu 37 2 32724761 32724761 + Silent SNP T C C rs137947891 TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:32724761T>C uc010ezu.3 + 45 8750 c.8616T>C c.(8614-8616)acT>acC p.T2872T NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA. 2872 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) ACTATATCACTTGCTCAGACA 0.433000 132 63 0 0 0.000781405 0 0 HTR5A 3361 broad.mit.edu 37 7 154862641 154862641 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:154862641C>T uc003wlu.1 + 0 96 c.32C>T c.(31-33)tCc>tTc p.S11F LOC100128264_uc003wlt.2_Intron|LOC100128264_uc011kvt.1_Intron NM_024012 NP_076917 P47898 5HT5A_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA. 11 integral to plasma membrane serotonin receptor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1) 48 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) ACCTCCTTTTCCCTCTCCACC 0.597000 49 33 0 0 0.00111076 0 0 CYP4Z2P 163720 broad.mit.edu 37 1 47333640 47333640 + RNA SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:47333640C>T uc001cqo.1 - 7 c.1087G>A CYP4Z2P_uc009vyn.1_Non-coding_Transcript Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA. AGACCCATCCCCTAGGAGTTC 0.423000 9 4 0 0 0.000602214 0 0 HERC1 8925 broad.mit.edu 37 15 63970335 63970335 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr15:63970335G>A uc002amp.3 - 36 6927 c.6779C>T c.(6778-6780)tCg>tTg p.S2260L NM_003922 NP_003913 Q15751 HERC1_HUMAN Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA. 2260 protein modification process|transport Golgi apparatus|cytosol|membrane ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 GCTCTGAACCGAGCGGCTTTT 0.428000 29 27 0 0 0.00127121 0 0 GSG1 83445 broad.mit.edu 37 12 13240852 13240852 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:13240852G>A uc001rbn.3 - 4 807 c.623C>T c.(622-624)tCt>tTt p.S208F GSG1_uc001rbl.3_Intron|GSG1_uc001rbj.3_Missense_Mutation_p.S172F|GSG1_uc001rbk.3_Silent_p.L213L|GSG1_uc001rbm.3_Intron|GSG1_uc001rbo.3_Silent_p.L249L|GSG1_uc001rbp.3_Missense_Mutation_p.S185F|GSG1_uc001rbq.2_Silent_p.L249L NM_001080555 NP_001074024 Q2KHT4 GSG1_HUMAN Homo sapiens germ cell associated 1 (GSG1), transcript variant 4, mRNA. 195 endoplasmic reticulum membrane|integral to membrane endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1) 10 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.15) TGACAGGACAGAGGAAACAGC 0.557000 24 10 0 0 0.000442599 0 0 OR10G9 219870 broad.mit.edu 37 11 123894512 123894512 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:123894512G>A uc010sad.2 + 0 793 c.793G>A c.(793-795)Gac>Aac p.D265N NM_001001953 NP_001001953 Q8NGN4 O10G9_HUMAN Homo sapiens olfactory receptor, family 10, subfamily G, member 9 (OR10G9), mRNA. 265 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1) 61 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) AGGCTCCAGGGACGTCGTGGA 0.522000 19 34 0 0 0.000692331 0 0 FAM113B 91523 broad.mit.edu 37 12 47629854 47629855 + Missense_Mutation DNP TC AT AT TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:47629854_47629855TC>AT uc001rpq.3 + 1 1533_1534 c.1008_1009TC>AT c.(1006-1011)ggtccc>ggATcc p.P337S FAM113B_uc001rpn.3_Missense_Mutation_p.P337S|FAM113B_uc021qxi.1_Missense_Mutation_p.P337S NM_138371 NP_612380 Q96HM7 F113B_HUMAN Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA. 337 Pro-rich. hydrolase activity NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10) 35 Renal(347;0.138)|Lung SC(27;0.192) TCCCACAGGGTCCCCCAGATGC 0.579000 312 29 0 0 6.4e-05 0 0 PPP1R9B 84687 broad.mit.edu 37 17 48212944 48212944 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr17:48212944C>T uc002iqh.4 - 9 2353 c.2350G>A c.(2350-2352)Gag>Aag p.E784K NM_032595 NP_115984 Q96SB3 NEB2_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 9B (PPP1R9B), mRNA. 790 Interacts with TGN38 (By similarity). RNA splicing|cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 8 TCCATCTCCTCCTTTCTGGCC 0.632000 3 10 0 0 0.000673444 0 0 OR2Y1 134083 broad.mit.edu 37 5 180166281 180166281 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr5:180166281G>A uc003mmf.1 - 0 778 c.778C>T c.(778-780)Caa>Taa p.Q260* NM_001001657 NP_001001657 Q8NGV0 OR2Y1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily Y, member 1 (OR2Y1), mRNA. 260 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L259V(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114) all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGGATGGATTGGAGATATGTG 0.423000 40 92 0 0 0.000781405 0 0 BEST3 144453 broad.mit.edu 37 12 70049039 70049039 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:70049039G>A uc001svg.3 - 9 1882 c.1655C>T c.(1654-1656)cCc>cTc p.P552L BEST3_uc001svd.2_Intron|BEST3_uc001svf.3_Missense_Mutation_p.P339L|BEST3_uc010stm.2_Missense_Mutation_p.P446L NM_032735 NP_116124 Q8N1M1 BEST3_HUMAN Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA. 552 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) CTTCTCTGAGGGAGACAGGAT 0.547000 100 33 0 0 0.00283554 0 0 TTN 7273 broad.mit.edu 37 2 179517007 179517007 + Silent SNP T C C TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:179517007T>C uc021vsy.1 - 156 32118 c.31893A>G c.(31891-31893)gaA>gaG p.E10631E MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_5'Flank|TTN_uc002umx.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 11558 Glu-rich.|Pro-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGGGTGGCACTTCAGGCTTTT 0.378000 251 30 0 0 0.00283554 0 0 SRL 6345 broad.mit.edu 37 16 4242577 4242577 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr16:4242577G>A uc002cvz.4 - 5 1012 c.999C>T c.(997-999)atC>atT p.I333I SRL_uc002cvy.4_Non-coding_Transcript NM_001098814 NP_001092284 Q86TD4 SRCA_HUMAN Homo sapiens sarcalumenin (SRL), mRNA. 792 Acidic domain, probably binds calcium (By similarity). sarcoplasmic reticulum lumen GTP binding|GTPase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3) 21 CGTGCTGGCGGATGAAGGCAA 0.537000 88 46 0 0 0.000781405 0 0 ZNF212 7988 broad.mit.edu 37 7 148947573 148947573 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:148947573C>T uc003wfp.3 + 1 476 c.348C>T c.(346-348)aaC>aaT p.N116N NM_012256 NP_036388 Q9UDV6 ZN212_HUMAN Homo sapiens zinc finger protein 212 (ZNF212), mRNA. 116 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1) 9 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) ACGTGGAGAACCTGCTGCGCA 0.612000 80 58 0 0 0.000781405 0 0 LRBA 987 broad.mit.edu 37 4 151203748 151203748 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr4:151203748C>T uc010ipj.3 - 55 8447 c.8203G>A c.(8203-8205)Gag>Aag p.E2735K LRBA_uc010ipi.3_Missense_Mutation_p.E257K|LRBA_uc003ils.4_Missense_Mutation_p.E630K|LRBA_uc003ilt.4_Missense_Mutation_p.E1383K|LRBA_uc003ilu.4_Missense_Mutation_p.E2723K|LRBA_uc003ilr.4_Missense_Mutation_p.E155K NM_006726 NP_006717 P50851 LRBA_HUMAN Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA. 2735 Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) TCAGGACCCTCCAAGGTCCTC 0.408000 72 41 0 0 0.00285205 0 0 NWD1 284434 broad.mit.edu 37 19 16860679 16860679 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:16860679C>T uc002neu.4 + 5 1648 c.1226C>T c.(1225-1227)gCc>gTc p.A409V NWD1_uc002net.4_Missense_Mutation_p.A274V|NWD1_uc002nev.4_Missense_Mutation_p.A203V|NWD1_uc021uqg.1_Missense_Mutation_p.A274V NM_001007525 NP_001007526 Q149M9 NWD1_HUMAN Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA. 409 NACHT. ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GTTCTGGACGCCCACACCAGG 0.582000 11 16 0 0 0.00074312 0 0 ESYT2 57488 broad.mit.edu 37 7 158528282 158528282 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:158528282G>A uc003wob.1 - 19 2564 c.2498C>T c.(2497-2499)tCg>tTg p.S833L ESYT2_uc003wny.1_Non-coding_Transcript|ESYT2_uc003wnz.1_Missense_Mutation_p.S272L|ESYT2_uc003woa.1_Missense_Mutation_p.S410L NM_020728 NP_065779 A0FGR8 ESYT2_HUMAN Homo sapiens extended synaptotagmin-like protein 2 (ESYT2), mRNA. 861 C2 3. integral to membrane|plasma membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 TTCTGGTAACGAAACACTGAA 0.438000 51 30 0 0 0.00170553 0 0 OR56A5 390084 broad.mit.edu 37 11 5989438 5989438 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:5989438C>T uc010qzu.2 - 0 287 c.287G>A c.(286-288)aGc>aAc p.S96N NM_001146033 NP_001139505 P0C7T3 O56A5_HUMAN Homo sapiens olfactory receptor, family 56, subfamily A, member 5 (OR56A5), mRNA. 96 integral to membrane|plasma membrane olfactory receptor activity GGCAGGGAAGCTGATTGATCT 0.522000 14 14 0 0 0.000422831 0 0 MUC5B 727897 broad.mit.edu 37 11 1162342 1162342 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:1162342C>T uc021qbr.1 + 14 1898 c.1851C>T c.(1849-1851)tgC>tgT p.C617C Q9HC84 MUC5B_HUMAN Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA. 608 VWFD 2. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) AGGACCCCTGCTCTCTGAGCG 0.652000 15 6 0 0 0.00116845 0 0 OR2V2 285659 broad.mit.edu 37 5 180582587 180582587 + Silent SNP C T T rs146384535 byFrequency TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr5:180582587C>T uc011dhj.2 + 0 645 c.645C>T c.(643-645)atC>atT p.I215I NM_206880 NP_996763 Q96R30 OR2V2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily V, member 2 (OR2V2), mRNA. 215 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCTCCATCATCGTGGCCTCCT 0.522000 46 92 0 0 0.000781405 0 0 MGP 4256 broad.mit.edu 37 12 15035095 15035095 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:15035095C>T uc021qvr.1 - 4 493 c.365G>A c.(364-366)aGg>aAg p.R122K MGP_uc001rcn.2_Missense_Mutation_p.R97K NM_001190839 NP_001177768 P08493 MGP_HUMAN Homo sapiens matrix Gla protein (MGP), transcript variant 1, mRNA. 97 cartilage condensation|cell differentiation|ossification|regulation of bone mineralization proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent|structural constituent of bone large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 7 TCGGCGCTTCCTGAAGTAGCG 0.478000 88 71 0 0 0.000781405 0 0 PCLO 27445 broad.mit.edu 37 7 82582358 82582358 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:82582358C>T uc003uhx.2 - 4 8200 c.7911G>A c.(7909-7911)caG>caA p.Q2637Q PCLO_uc003uhv.2_Silent_p.Q2637Q|PCLO_uc010lec.3_5'Flank NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 2568 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.Q2637H(2)|p.Q2568H(1) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TGTAGAAGGTCTGTTCTGAAG 0.458000 49 33 0 0 0.00058488 0 0 IL28RA 163702 broad.mit.edu 37 1 24484325 24484325 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:24484325G>A uc001bis.3 - 6 885 c.858C>T c.(856-858)tcC>tcT p.S286S IL28RA_uc001bir.3_Intron|IL28RA_uc001bit.3_Missense_Mutation_p.R243C|IL28RA_uc001biu.3_Silent_p.S202S NM_170743 NP_734464 Q8IU57 I28RA_HUMAN Homo sapiens interleukin 28 receptor, alpha (interferon, lambda receptor) (IL28RA), transcript variant 1, mRNA. 286 cytokine-mediated signaling pathway|negative regulation of cell proliferation|regulation of defense response to virus by host interleukin-28 receptor complex protein binding|receptor activity autonomic_ganglia(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(4) 16 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00117)|all_lung(284;0.00151)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.21e-24)|Colorectal(126;6.61e-08)|COAD - Colon adenocarcinoma(152;3.56e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00918)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.185) AGTCATTCACGGACTCTGGTC 0.542000 78 34 0 0 0.00283554 0 0 IQCJ-SCHIP1 100505385 broad.mit.edu 37 3 159606659 159606659 + Silent SNP A G G TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:159606659A>G uc003fcq.2 + 8 1654 c.1473A>G c.(1471-1473)aaA>aaG p.K491K IQCJ-SCHIP1_uc003fcr.2_Silent_p.K464K|IQCJ-SCHIP1_uc003fcs.2_Silent_p.K415K|IQCJ-SCHIP1_uc003fct.2_Silent_p.K402K|IQCJ-SCHIP1_uc021xgm.1_Silent_p.K183K|IQCJ-SCHIP1_uc010hvz.1_Silent_p.K375K|IQCJ-SCHIP1_uc003fcu.2_Silent_p.K172K NM_001197113 NP_001184042 Q9P0W5 SCHI1_HUMAN Homo sapiens IQCJ-SCHIP1 readthrough (IQCJ-SCHIP1), transcript variant 1, mRNA. 415 cytoplasm identical protein binding|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7) 12 GAAGTTTAAAACCCACCGACC 0.408000 48 28 0 0 0.001512 0 0 CMKLR1 1240 broad.mit.edu 37 12 108686458 108686458 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:108686458G>A uc009zuw.3 - 2 473 c.282C>T c.(280-282)atC>atT p.I94I CMKLR1_uc001tmw.3_Silent_p.I94I|CMKLR1_uc001tmv.3_Silent_p.I92I|CMKLR1_uc009zuv.3_Silent_p.I94I|CMKLR1_uc021rdj.1_Silent_p.I92I NM_001142345 NP_004063 Q99788 CML1_HUMAN Homo sapiens chemokine-like receptor 1 (CMKLR1), transcript variant 4, mRNA. 94 chemotaxis|immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-12 production|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development integral to plasma membrane chemokine receptor activity endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 37 AGGTGATATGGATTGGGAGGA 0.493000 15 30 0 0 0.00058488 0 0 PGK2 5232 broad.mit.edu 37 6 49754580 49754580 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 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 41 22 0 0 0.00188189 0 0 RGPD3 653489 broad.mit.edu 37 2 107040826 107040826 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:107040826C>T uc010ywi.1 - 19 3654 c.3597G>A c.(3595-3597)aaG>aaA p.K1199K NM_001144013 NP_001137485 A6NKT7 RGPD3_HUMAN Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA. 1199 intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TCAGTCCACTCTTCATTTCTT 0.433000 81 59 0 0 0.000781405 0 0 GLRB 2743 broad.mit.edu 37 4 158073936 158073936 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr4:158073936C>T uc003ipj.2 + 8 1173 c.971C>T c.(970-972)tCc>tTc p.S324F GLRB_uc021xtp.1_Intron|GLRB_uc021xtq.1_Missense_Mutation_p.S324F NM_000824 NP_001159532 P48167 GLRB_HUMAN Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA. 324 nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1) 27 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) CCCAAAGTTTCCTATGTGAAG 0.483000 62 39 0 0 0.00128727 0 0 OR51G2 81282 broad.mit.edu 37 11 4936151 4936151 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:4936151G>A uc001lzr.1 - 0 743 c.743C>T c.(742-744)tCc>tTc p.S248F NM_001005238 NP_001005238 Q8NGK0 O51G2_HUMAN Homo sapiens olfactory receptor, family 51, subfamily G, member 2 (OR51G2), mRNA. 248 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) ACAGATGTGGGAAACACAGGT 0.552000 49 31 0 0 0.00283554 0 0 ARID4A 5926 broad.mit.edu 37 14 58796780 58796780 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr14:58796780G>A uc001xdp.3 + 10 1053 c.799G>A c.(799-801)Gat>Aat p.D267N ARID4A_uc001xdo.3_Missense_Mutation_p.D267N|ARID4A_uc001xdq.3_Missense_Mutation_p.D267N|ARID4A_uc010apg.1_5'Flank NM_002892 NP_002883 P29374 ARI4A_HUMAN Homo sapiens AT rich interactive domain 4A (RBP1-like) (ARID4A), transcript variant 1, mRNA. 267 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter transcriptional repressor complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 TTGGAAAATGGATATAAGTGA 0.388000 29 45 0 0 0.00222228 0 0 PRKD2 25865 broad.mit.edu 37 19 47178312 47178312 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:47178312G>A uc002pfh.3 - 17 2744 c.2402C>T c.(2401-2403)tCt>tTt p.S801F PRKD2_uc010eks.3_Missense_Mutation_p.S204F|PRKD2_uc010ekt.3_Missense_Mutation_p.S68F|PRKD2_uc002pfg.3_Missense_Mutation_p.S644F|PRKD2_uc002pfi.3_Missense_Mutation_p.S801F|PRKD2_uc002pfj.3_Missense_Mutation_p.S801F|PRKD2_uc010xye.2_Missense_Mutation_p.S811F|PRKD2_uc002pfk.3_Missense_Mutation_p.S644F|LOC100506068_uc021uwh.1_Intron NM_001079881 NP_001073351 Q9BZL6 KPCD2_HUMAN Homo sapiens protein kinase D2 (PRKD2), transcript variant 3, mRNA. 801 Protein kinase. T cell receptor signaling pathway|cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein kinase C activity central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 41 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353) GTGGCTGAGAGATTTGTCCAC 0.562000 12 6 0 0 0.000157383 0 0 PSG2 5670 broad.mit.edu 37 19 43579720 43579720 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:43579720C>T uc002ovr.3 - 2 667 c.495G>A c.(493-495)gtG>gtA p.V165V PSG4_uc010xwk.1_Intron NM_031246 NP_112536 P11465 PSG2_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA. 165 Ig-like C2-type 1. cell migration|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) AGGTTAAGATCACAGTTTCCA 0.522000 110 65 0 0 0.000781405 0 0 TTN 7273 broad.mit.edu 37 2 179498381 179498381 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:179498381C>T uc021vsy.1 - 180 35226 c.35001G>A c.(34999-35001)gtG>gtA p.V11667V MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.V5362V|TTN_uc021vta.1_Silent_p.V5295V|TTN_uc021vtb.1_Silent_p.V5170V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 12594 Glu-rich.|Pro-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.D11666G(1)|p.R11667K(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CATGTAATTTCACAGTGAAGT 0.338000 21 14 0 0 0.00244969 0 0 OR2T12 127064 broad.mit.edu 37 1 248458752 248458752 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:248458752C>T uc010pzj.2 - 0 129 c.129G>A c.(127-129)atG>atA p.M43I NM_001004692 NP_001004692 Q8NG77 O2T12_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA. 43 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) TCAGGAGAATCATGAGGGCAT 0.522000 50 29 0 0 0.00178596 0 0 RDX 5962 broad.mit.edu 37 11 110134695 110134696 + Silent DNP GG AA AA TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:110134695_110134696GG>AA uc009yxy.3 - 4 766_767 c.456_457CC>TT c.(454-459)ctccta>ctTTta p.152_153LL>LL RDX_uc009yxx.1_Non-coding_Transcript|RDX_uc009yxz.3_Intron|RDX_uc009yya.3_Silent_p.120_121LL>LL|RDX_uc001pku.3_Silent_p.152_153LL>LL|RDX_uc010rwe.2_Intron NM_002906 NP_002897 P35241 RADI_HUMAN Homo sapiens radixin (RDX), mRNA. 152 FERM. actin filament capping Golgi apparatus|cleavage furrow|cytoskeleton|extrinsic to membrane|nucleolus|plasma membrane actin binding endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 18 all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248) CGCTGGGGTAGGAGTCTATCAT 0.361000 13 16 0 0 6.4e-05 0 0 RABEP2 79874 broad.mit.edu 37 16 28935917 28935917 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr16:28935917G>A uc002drq.3 - 1 129 c.81C>T c.(79-81)tcC>tcT p.S27S NPIPL1_uc010vct.2_Intron|RABEP2_uc010vdf.2_Intron|RABEP2_uc010byn.3_Silent_p.S27S|RABEP2_uc002drr.3_Silent_p.S27S NM_024816 NP_079092 Q9H5N1 RABE2_HUMAN Homo sapiens rabaptin, RAB GTPase binding effector protein 2 (RABEP2), mRNA. 27 endocytosis|protein transport early endosome GTPase activator activity|growth factor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 16 CCCCTTCCTGGGACCGGGAGT 0.617000 29 8 0 0 0.000274275 0 0 IPP 3652 broad.mit.edu 37 1 46195343 46195343 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:46195343G>A uc001cou.3 - 3 1090 c.823C>T c.(823-825)Ctg>Ttg p.L275L IPP_uc001cos.4_Silent_p.L275L NM_005897 NP_005888 Q9Y573 IPP_HUMAN Homo sapiens intracisternal A particle-promoted polypeptide (IPP), transcript variant 1, mRNA. 275 actin cytoskeleton|cytoplasm actin binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2) 20 Acute lymphoblastic leukemia(166;0.155) GATGTCTGCAGAAAACTACAA 0.373000 54 32 0 0 0.000953801 0 0 ZBED1 9189 broad.mit.edu 37 X 2406967 2406967 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chrX:2406967G>A uc022brx.1 - 0 1794 c.1794C>T c.(1792-1794)ttC>ttT p.F598F DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqh.2_Silent_p.F598F|ZBED1_uc004cqg.2_Silent_p.F598F|ZBED1_uc022brw.1_Silent_p.F598F NM_004729 NP_004720 O96006 ZBED1_HUMAN Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 2, mRNA. 598 nuclear chromosome DNA binding|metal ion binding|protein dimerization activity|transposase activity endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 25 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GCAGCAGGGGGAAGAGGGCCA 0.647000 35 38 0 0 0.00111076 0 0 PADI3 51702 broad.mit.edu 37 1 17603120 17603120 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:17603120G>A uc001bai.3 + 11 1454 c.1414G>A c.(1414-1416)Gat>Aat p.D472N NM_016233 NP_057317 Q9ULW8 PADI3_HUMAN Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA. 472 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) GGGCCATGTGGATGAGTTTCT 0.612000 35 14 0 0 0.000566183 0 0 MBD5 55777 broad.mit.edu 37 2 149226884 149226884 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:149226884C>T uc002twm.4 + 8 2369 c.1372C>T c.(1372-1374)Caa>Taa p.Q458* MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002twn.1_5'Flank NM_018328 NP_060798 Q9P267 MBD5_HUMAN Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA. 458 chromosome|nucleus DNA binding|chromatin binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) GGCATCGCCCCAAAGATCACG 0.512000 11 10 0 0 0.000978159 0 0 DNAH5 1767 broad.mit.edu 37 5 13717504 13717504 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr5:13717504G>A uc003jfd.2 - 72 12667 c.12625C>T c.(12625-12627)Ccc>Tcc p.P4209S DNAH5_uc003jfc.2_Missense_Mutation_p.P377S NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 4209 AAA 6 (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) AATTCGTAGGGGATATTCCAC 0.547000 Kartagener syndrome 18 18 0 0 0.00074312 0 0 ITGAD 3681 broad.mit.edu 37 16 31435519 31435519 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr16:31435519G>A uc010cap.1 + 27 3308 c.3259G>A c.(3259-3261)Gct>Act p.A1087T ITGAD_uc002ebv.1_Missense_Mutation_p.A1086T NM_005353 NP_005344 Q13349 ITAD_HUMAN Homo sapiens integrin, alpha D (ITGAD), mRNA. 1086 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 ATTTATGAGAGCTCAGGTAGA 0.562000 21 16 0 0 0.000422831 0 0 ZNF230 7773 broad.mit.edu 37 19 44514759 44514759 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:44514759C>T uc002oyb.1 + 4 819 c.568C>T c.(568-570)Cac>Tac p.H190Y NM_006300 NP_006291 Q9UIE0 ZN230_HUMAN Homo sapiens zinc finger protein 230 (ZNF230), mRNA. 190 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2) 22 Prostate(69;0.0352) CCAGAGAGTTCACTTGAGAGA 0.463000 52 40 0 0 0.0025221 0 0 LSP1 4046 broad.mit.edu 37 11 1874417 1874417 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:1874417G>A uc001lui.3 + 0 218 c.43G>A c.(43-45)Gag>Aag p.E15K NM_002339 NP_001013273 P33241 LSP1_HUMAN Homo sapiens lymphocyte-specific protein 1 (LSP1), transcript variant 1, mRNA. 15 Missing (in Ref. 3; AAB29545). cellular component movement|cellular defense response Golgi apparatus|actin cytoskeleton|plasma membrane actin binding|signal transducer activity haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 16 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856) GGAGCGGGAAGAGTTGCTGGG 0.667000 10 8 0 0 0.000274275 0 0 PTPRT 11122 broad.mit.edu 37 20 40739014 40739014 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr20:40739014G>A uc002xkg.3 - 22 3397 c.3213C>T c.(3211-3213)ttC>ttT p.F1071F PTPRT_uc010ggj.3_Silent_p.F1090F|PTPRT_uc010ggi.3_Silent_p.F274F NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 1071 Tyrosine-protein phosphatase 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GGGGGTTGAGGAACTTGACCT 0.627000 27 17 0 0 0.00074312 0 0 RET 5979 broad.mit.edu 37 10 43606833 43606833 + Missense_Mutation SNP T G G TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr10:43606833T>G uc001jal.3 + 6 1632 c.1442T>G c.(1441-1443)cTt>cGt p.L481R RET_uc001jak.1_Missense_Mutation_p.L481R|RET_uc010qez.1_Missense_Mutation_p.L227R NM_020975 NP_066124 P07949 RET_HUMAN Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA. 481 homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) TGTGCCGAACTTCACTACATG 0.622000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 20 4 0 0 0.00024832 0 0 SNUPN 10073 broad.mit.edu 37 15 75902304 75902304 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr15:75902304G>A uc002ban.3 - 3 425 c.335C>T c.(334-336)cCt>cTt p.P112L SNUPN_uc002bap.3_Missense_Mutation_p.P154L|SNUPN_uc002baq.3_Missense_Mutation_p.P112L|SNUPN_uc002bar.3_Missense_Mutation_p.P112L|SNUPN_uc002bas.3_Missense_Mutation_p.P112L NM_005701 NP_005692 O95149 SPN1_HUMAN Homo sapiens snurportin 1 (SNUPN), transcript variant 1, mRNA. 112 Necessary for interaction with XPO1. ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly cytosol|nuclear pore RNA cap binding|protein transporter activity endometrium(2)|large_intestine(3)|lung(2)|pancreas(1) 8 CAAATCTGAAGGAACGTCAAT 0.493000 25 20 0 0 0.00188189 0 0 ZNF676 163223 broad.mit.edu 37 19 22363024 22363024 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:22363024G>A uc002nqs.1 - 2 1813 c.1495C>T c.(1495-1497)Cat>Tat p.H499Y NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN Homo sapiens zinc finger protein 676 (ZNF676), mRNA. 499 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) TCTCCAGTATGAATTATCTTA 0.383000 13 15 0 0 0.00244969 0 0 C20orf26 26074 broad.mit.edu 37 20 20051576 20051576 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr20:20051576C>T uc002wru.3 + 2 336 c.222C>T c.(220-222)ccC>ccT p.P74P C20orf26_uc010gcw.2_Silent_p.P28P|C20orf26_uc010zse.2_Silent_p.P74P|C20orf26_uc010zsf.1_Silent_p.P74P NM_015585 NP_056400 Q8NHU2 CT026_HUMAN Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA. 74 P -> R (in dbSNP:rs17852602). NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) TGGACTACCCCAACTGGAATG 0.502000 38 18 0 0 0.00074312 0 0 RSRC1 51319 broad.mit.edu 37 3 158261266 158261266 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:158261266C>T uc003fbt.3 + 8 1013 c.902C>T c.(901-903)gCc>gTc p.A301V RSRC1_uc003fbv.3_Missense_Mutation_p.A243V NM_016625 NP_057709 Q96IZ7 RSRC1_HUMAN Homo sapiens arginine/serine-rich coiled-coil 1 (RSRC1), mRNA. 301 nucleocytoplasmic transport cytoplasm|nuclear speck protein binding cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1) 18 Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575) AATTCCCTGGCCCATCCAAAT 0.398000 68 19 0 0 0.000720815 0 0 KIAA1109 84162 broad.mit.edu 37 4 123113461 123113461 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr4:123113461C>T uc003ieh.3 + 8 1024 c.979C>T c.(979-981)Cca>Tca p.P327S KIAA1109_uc003iei.1_Missense_Mutation_p.P81S NM_015312 NP_056127 Q2LD37 K1109_HUMAN Homo sapiens KIAA1109 (KIAA1109), mRNA. 327 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 AGACTTGCCTCCATGTTGGGG 0.373000 39 25 0 0 0.00047179 0 0 CYP4Z1 199974 broad.mit.edu 37 1 47533216 47533216 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:47533216C>T uc001cqu.1 + 0 57 c.54C>T c.(52-54)atC>atT p.I18I NM_178134 NP_835235 Q86W10 CP4Z1_HUMAN Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA. 18 endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1) 11 TGCTGCTGATCCTCCTCTGCA 0.562000 20 10 0 0 0.00185496 0 0 TTN 7273 broad.mit.edu 37 2 179553407 179553407 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:179553407C>T uc021vsy.1 - 122 28687 c.28462G>A c.(28462-28464)Gaa>Aaa p.E9488K TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6149K|TTN_uc010fre.1_Intron NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 10415 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) TATATACCTTCGTGCCGCGTG 0.398000 56 17 0 0 0.000566183 0 0 WBSCR17 64409 broad.mit.edu 37 7 70597977 70597977 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:70597977C>T uc003tvy.3 + 0 189 c.189C>T c.(187-189)gtC>gtT p.V63V NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA. 63 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) AGGATGCGGTCCTGAAGCGCC 0.726000 10 6 0 0 0.00116845 0 0 GRK1 6011 broad.mit.edu 37 13 114322079 114322079 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr13:114322079G>A uc010tkf.2 + 0 483 c.378G>A c.(376-378)ctG>ctA p.L126L NM_002929 NP_002920 Q15835 RK_HUMAN Homo sapiens G protein-coupled receptor kinase 1 (GRK1), mRNA. 126 N-terminal.|RGS. regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway membrane ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity ovary(2) 2 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839) all cancers(43;0.234) GCAGCTTCCTGGATGAGGGGA 0.617000 13 4 0 0 0.00024832 0 0 OR4N2 390429 broad.mit.edu 37 14 20296196 20296197 + Missense_Mutation DNP CT TA TA TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr14:20296196_20296197CT>TA uc010tkv.2 + 0 589_590 c.589_590CT>TA c.(589-591)ctt>TAt p.L197Y NM_001004723 NP_001004723 Q8NGD1 OR4N2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA. 197 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 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) TGTGGTGGAGCTTCTGATGGTC 0.530000 51 23 0 0 6.4e-05 0 0 DHX34 9704 broad.mit.edu 37 19 47858352 47858352 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:47858352C>T uc010xyn.2 + 2 1111 c.762C>T c.(760-762)ttC>ttT p.F254F DHX34_uc010elc.1_Silent_p.F254F NM_014681 NP_055496 Q14147 DHX34_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA. 254 Helicase ATP-binding. intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) AGATTGTATTCCTGACAGTGG 0.582000 40 29 0 0 0.001512 0 0 CPA3 1359 broad.mit.edu 37 3 148599379 148599379 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:148599379C>T uc003ewm.3 + 6 699 c.647C>T c.(646-648)cCt>cTt p.P216L NM_001870 NP_001861 P15088 CBPA3_HUMAN Homo sapiens carboxypeptidase A3 (mast cell) (CPA3), mRNA. 216 proteolysis stored secretory granule|transport vesicle metallocarboxypeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) TACATTCTTCCTGTGTTCAAT 0.343000 38 10 0 0 0.00136819 0 0 EFCAB6 64800 broad.mit.edu 37 22 44112819 44112819 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr22:44112819G>A uc003bdy.2 - 8 1105 c.791C>T c.(790-792)tCc>tTc p.S264F EFCAB6_uc003bdz.2_Missense_Mutation_p.S112F|EFCAB6_uc010gzi.2_Missense_Mutation_p.S112F|EFCAB6_uc010gzk.1_Non-coding_Transcript|EFCAB6_uc011aqa.2_Missense_Mutation_p.S158F|EFCAB6_uc003bea.2_Missense_Mutation_p.S261F|EFCAB6_uc003beb.4_Missense_Mutation_p.S158F NM_022785 NP_942153 Q5THR3 EFCB6_HUMAN Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA. 264 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) TTCCTTTTTGGAATTTTTGGC 0.353000 48 18 0 0 0.000566183 0 0 ADCYAP1R1 117 broad.mit.edu 37 7 31117614 31117614 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:31117614G>A uc003tca.2 + 3 455 c.166G>A c.(166-168)Ggg>Agg p.G56R ADCYAP1R1_uc003tcg.3_Missense_Mutation_p.G56R|ADCYAP1R1_uc003tce.2_Missense_Mutation_p.G56R|ADCYAP1R1_uc003tcb.2_Missense_Mutation_p.G56R|ADCYAP1R1_uc003tcc.2_Missense_Mutation_p.G56R NM_001118 NP_001109 P41586 PACR_HUMAN Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA. 56 activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis integral to plasma membrane vasoactive intestinal polypeptide receptor activity endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1) 35 AGGCTGTCCTGGGATGTGGGA 0.572000 25 16 0 0 0.000422831 0 0 STRN3 29966 broad.mit.edu 37 14 31424860 31424860 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr14:31424860G>A uc001wqu.2 - 2 642 c.426C>T c.(424-426)aaC>aaT p.N142N STRN3_uc001wqv.2_Silent_p.N142N|STRN3_uc010tpj.1_Non-coding_Transcript NM_001083893 NP_001077362 Q13033 STRN3_HUMAN Homo sapiens striatin, calmodulin binding protein 3 (STRN3), transcript variant 1, mRNA. 142 negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus Golgi apparatus|cytoplasm|dendrite|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity p.L141L(1) NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.0124) AGTCACCTTGGTTCAGTTCCG 0.303000 17 18 0 0 0.00229938 0 0 EPG5 57724 broad.mit.edu 37 18 43435618 43435618 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr18:43435618G>A uc002lbm.3 - 42 7577 c.7477C>T c.(7477-7479)Ctt>Ttt p.L2493F NM_020964 NP_066015 Q9HCE0 EPG5_HUMAN Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA. 2493 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 TGAACTGAAAGGAAGGCAGCC 0.453000 11 13 0 0 0.000566183 0 0 OR4M1 441670 broad.mit.edu 37 14 20248579 20248579 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr14:20248579C>T uc010tku.2 + 0 98 c.98C>T c.(97-99)tCc>tTc p.S33F NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA. 33 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S33Y(2) NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATATTTCTATCCTTCTATTTG 0.413000 167 13 0 0 0.000308642 0 0 DNAH7 56171 broad.mit.edu 37 2 196891526 196891526 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:196891526C>T uc002utj.4 - 6 726 c.625G>A c.(625-627)Gaa>Aaa p.E209K NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 209 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TCTCTCATTTCATCAGATAAT 0.338000 32 17 0 0 0.000958276 0 0 OR2M5 127059 broad.mit.edu 37 1 248308935 248308935 + Silent SNP G T T rs138472974 byFrequency TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:248308935G>T uc010pze.2 + 0 486 c.486G>T c.(484-486)gcG>gcT p.A162A NM_001004690 NP_001004690 A3KFT3 OR2M5_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA. 162 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) ATGCTGTAGCGACATTTTCCT 0.448000 205 9 0.000274275 0.00109282 0.000274275 1 0 PCDHB14 56122 broad.mit.edu 37 5 140603558 140603558 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr5:140603558G>A uc003ljb.3 + 0 481 c.481G>A c.(481-483)Gat>Aat p.D161N NM_018934 NP_061757 Q9Y5E9 PCDBE_HUMAN Homo sapiens protocadherin beta 14 (PCDHB14), mRNA. 161 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCAAGATTTGGATGTCGGAAG 0.398000 10 31 0 0 0.000692331 0 0 SLC44A2 57153 broad.mit.edu 37 19 10738467 10738467 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:10738467C>T uc002mpf.3 + 2 295 c.156C>T c.(154-156)atC>atT p.I52I SLC44A2_uc002mpe.4_Silent_p.I50I NM_020428 NP_065161 Q8IWA5 CTL2_HUMAN Homo sapiens solute carrier family 44, member 2 (SLC44A2), transcript variant 1, mRNA. 52 positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane|plasma membrane choline transmembrane transporter activity|signal transducer activity NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Epithelial(33;8.7e-06)|all cancers(31;2.77e-05) Choline(DB00122) CTGTAGGCATCATAGGTGAGT 0.587000 16 28 0 0 0.001512 0 0 CASP5 838 broad.mit.edu 37 11 104877831 104877831 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:104877831G>A uc010ruz.1 - 2 483 c.451C>T c.(451-453)Caa>Taa p.Q151* CASP5_uc010rva.1_Nonsense_Mutation_p.Q138*|CASP5_uc010rvb.1_Nonsense_Mutation_p.Q80*|CASP5_uc010rvc.1_Intron|CASP5_uc009yxh.2_5'UTR|CASP5_uc010rvd.1_Intron NM_001136112 NP_001129584 P51878 CASP5_HUMAN Homo sapiens caspase 5, apoptosis-related cysteine peptidase (CASP5), transcript variant f, mRNA. 138 apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis intracellular cysteine-type endopeptidase activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042) GTGATCTTTTGGTCCATATTG 0.388000 36 51 0 0 0.000781405 0 0 HEATR2 54919 broad.mit.edu 37 7 796514 796514 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:796514C>T uc010krz.1 + 5 1373 c.1353C>T c.(1351-1353)tcC>tcT p.S451S HEATR2_uc003siz.2_Silent_p.S319S NM_017802 NP_060272 Q86Y56 HEAT2_HUMAN Homo sapiens HEAT repeat containing 2 (HEATR2), mRNA. 451 protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1) 22 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14) CCTCTGCCTCCGGCCTCCTGG 0.642000 42 32 0 0 0.000814825 0 0 KRT71 112802 broad.mit.edu 37 12 52946563 52946563 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:52946563C>T uc001sao.3 - 0 369 c.299G>A c.(298-300)gGa>gAa p.G100E NM_033448 NP_258259 Q3SY84 K2C71_HUMAN Homo sapiens keratin 71 (KRT71), mRNA. 100 Gly-rich.|Head. structural molecule activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.194) GTGGATGCCTCCAGGTGGGCA 0.637000 14 20 0 0 0.00121646 0 0 NLRP8 126205 broad.mit.edu 37 19 56499263 56499263 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:56499263C>T uc002qmh.3 + 9 3202 c.3131C>T c.(3130-3132)tCc>tTc p.S1044F NLRP8_uc010etg.3_Missense_Mutation_p.S1025F NM_176811 NP_789781 Q86W28 NALP8_HUMAN Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA. 1044 cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) GACTGCCTATCCCAGATTAAT 0.502000 35 18 0 0 0.000958276 0 0 PPM1G 5496 broad.mit.edu 37 2 27605342 27605342 + Splice_Site SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:27605342C>T uc002rkl.3 - 8 1538 c.1331_splice c.e8+1 p.W444_splice ZNF513_uc002rkj.3_5'Flank|ZNF513_uc002rkk.3_5'Flank|PPM1G_uc002rkm.3_Splice_Site_p.W225_splice NM_177983 NP_817092 O15355 PPM1G_HUMAN Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1G (PPM1G), mRNA. 444 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) CCAGTGCTCACCAGATGCCAT 0.512000 80 39 0 0 0.00148497 0 0 MRPS26 64949 broad.mit.edu 37 20 3026876 3026876 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr20:3026876C>T uc002whs.3 + 0 202 c.162C>T c.(160-162)ttC>ttT p.F54F NM_030811 NP_110438 Q9BYN8 RT26_HUMAN Homo sapiens mitochondrial ribosomal protein S26 (MRPS26), nuclear gene encoding mitochondrial protein, mRNA. 54 DNA damage response, detection of DNA damage mitochondrial small ribosomal subunit kidney(1)|lung(1) 2 CGGAGTTCTTCGTGCTGATGG 0.711000 24 14 0 0 0.000422831 0 0 MAGEB10 139422 broad.mit.edu 37 X 27839446 27839446 + Missense_Mutation SNP A G G TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chrX:27839446A>G uc022bud.1 + 0 23 c.23A>G c.(22-24)aAa>aGa p.K8R MAGEB10_uc004dbw.3_Missense_Mutation_p.K8R NM_182506 NP_872312 Q96LZ2 MAGBA_HUMAN Homo sapiens melanoma antigen family B, 10 (MAGEB10), mRNA. 8 NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 CAGAAGAGTAAACTCCGTGCC 0.527000 9 13 0 0 0.00185496 0 0 IRX2 153572 broad.mit.edu 37 5 2749606 2749606 + Missense_Mutation SNP G T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr5:2749606G>T uc003jda.3 - 1 787 c.545C>A c.(544-546)cCg>cAg p.P182Q C5orf38_uc003jdc.3_5'Flank|C5orf38_uc011cmg.2_5'Flank|C5orf38_uc011cmh.2_5'Flank|C5orf38_uc011cmi.2_5'Flank|C5orf38_uc011cmj.2_5'Flank|IRX2_uc003jdb.3_Missense_Mutation_p.P182Q NM_001134222 NP_150366 Q9BZI1 IRX2_HUMAN Homo sapiens iroquois homeobox 2 (IRX2), transcript variant 2, mRNA. 182 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2) 26 GBM - Glioblastoma multiforme(108;0.204) TTTGTTTCTCGGGGCCCAGGT 0.612000 67 5 0.00198382 0.00787083 0.00198382 1 0 PGM2L1 283209 broad.mit.edu 37 11 74085522 74085522 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:74085522G>A uc001ovb.1 - 1 513 c.217C>T c.(217-219)Cgt>Tgt p.R73C NM_173582 NP_775853 Q6PCE3 PGM2L_HUMAN Homo sapiens phosphoglucomutase 2-like 1 (PGM2L1), mRNA. 73 glucose 1-phosphate metabolic process cytosol glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(11;3.32e-06) ATGGCAGAACGAAGTCCTGCA 0.413000 19 15 0 0 0.000422831 0 0 ARAP1 116985 broad.mit.edu 37 11 72422542 72422542 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:72422542G>A uc001osu.3 - 7 1214 c.1025C>T c.(1024-1026)tCt>tTt p.S342F ARAP1_uc001osv.3_Missense_Mutation_p.S342F|ARAP1_uc001osr.3_Missense_Mutation_p.S102F|ARAP1_uc001oss.3_Missense_Mutation_p.S97F|ARAP1_uc009yth.3_Missense_Mutation_p.S97F|ARAP1_uc010rre.2_Missense_Mutation_p.S97F NM_001040118 NP_056057 Q96P48 ARAP1_HUMAN Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA. 342 PH 1. actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction Golgi cisterna membrane|cytosol|plasma membrane ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 ATAGATGTAAGATCTGGAGAG 0.542000 134 72 0 0 0.000781405 0 0 DUOX2 50506 broad.mit.edu 37 15 45398334 45398334 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr15:45398334C>T uc001zun.3 - 16 2340 c.2137G>A c.(2137-2139)Gag>Aag p.E713K DUOX2_uc010bea.3_Missense_Mutation_p.E713K NM_014080 NP_054799 Q9NRD8 DUOX2_HUMAN Homo sapiens dual oxidase 2 (DUOX2), mRNA. 713 cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) AGGTCATACTCCTTAGGGATC 0.597000 14 9 0 0 0.000274275 0 0 ATP8A1 10396 broad.mit.edu 37 4 42545962 42545962 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr4:42545962C>T uc003gwr.2 - 19 1926 c.1694G>A c.(1693-1695)gGa>gAa p.G565E ATP8A1_uc003gws.2_Missense_Mutation_p.G550E|ATP8A1_uc011byz.1_Missense_Mutation_p.G550E NM_006095 NP_006086 Q9Y2Q0 AT8A1_HUMAN Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA. 565 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) TCGTAACTTTCCAGATGGAGT 0.328000 28 18 0 0 0.000958276 0 0 CRNN 49860 broad.mit.edu 37 1 152382122 152382122 + Missense_Mutation SNP C T T rs138795800 TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:152382122C>T uc001ezx.2 - 2 1510 c.1436G>A c.(1435-1437)cGa>cAa p.R479Q NM_016190 NP_057274 Q9UBG3 CRNN_HUMAN Homo sapiens cornulin (CRNN), mRNA. 479 cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TGTGATGCCTCGCTTCTCTTC 0.542000 52 22 0 0 0.00229938 0 0 DGKI 9162 broad.mit.edu 37 7 137237174 137237174 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:137237174C>T uc003vtt.3 - 19 2089 c.2088G>A c.(2086-2088)agG>agA p.R696R DGKI_uc003vtu.3_Silent_p.R396R NM_004717 NP_004708 O75912 DGKI_HUMAN Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA. 696 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 TGGCCTGATTCCTCAGGGAGA 0.493000 50 21 0 0 0.00152264 0 0 TRIM61 391712 broad.mit.edu 37 4 165891010 165891010 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr4:165891010C>T uc003iqw.3 - 2 756 c.145G>A c.(145-147)Gat>Aat p.D49N NM_001012414 NP_001012414 Q5EBN2 TRI61_HUMAN Homo sapiens tripartite motif containing 61 (TRIM61), mRNA. 49 intracellular zinc ion binding NS(1)|kidney(1)|liver(1)|skin(1)|upper_aerodigestive_tract(1) 5 all_hematologic(180;0.221) Prostate(90;0.109) GBM - Glioblastoma multiforme(119;0.155) GGGAAACTATCATGTAGATCC 0.463000 71 15 0 0 0.000422831 0 0 PCNXL2 80003 broad.mit.edu 37 1 233275579 233275579 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:233275579G>A uc001hvl.2 - 19 3775 c.3540C>T c.(3538-3540)ttC>ttT p.F1180F PCNXL2_uc001hvm.1_Non-coding_Transcript|PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc001hvp.1_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript NM_014801 NP_055616 A6NKB5 PCX2_HUMAN Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA. 1180 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) AGAGTCTTTCGAACCACATTA 0.323000 40 13 0 0 0.000308642 0 0 KIAA0556 23247 broad.mit.edu 37 16 27784432 27784432 + Missense_Mutation SNP T C C TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr16:27784432T>C uc002dow.3 + 22 4235 c.4211T>C c.(4210-4212)tTt>tCt p.F1404S NM_015202 NP_056017 O60303 K0556_HUMAN Homo sapiens KIAA0556 (KIAA0556), mRNA. 1404 breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76 ATTTTCCAGTTTCAGCTTCTC 0.428000 13 14 0 0 0.000566183 0 0 OR5K4 403278 broad.mit.edu 37 3 98072707 98072707 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:98072707G>A uc011bgv.2 + 0 10 c.10G>A c.(10-12)Gaa>Aaa p.E4K NM_001005517 NP_001005517 A6NMS3 OR5K4_HUMAN Homo sapiens olfactory receptor, family 5, subfamily K, member 4 (OR5K4), mRNA. 4 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 21 AATGGCTAGGGAAAATCACTC 0.393000 34 18 0 0 0.000958276 0 0 KIF21B 23046 broad.mit.edu 37 1 200960786 200960786 + Splice_Site SNP T G G TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:200960786T>G uc001gvs.2 - 17 2771 c.2454_splice c.e17+1 p.E818_splice KIF21B_uc009wzl.2_Splice_Site_p.E818_splice|KIF21B_uc001gvr.2_Splice_Site_p.E818_splice|KIF21B_uc010ppn.2_Splice_Site_p.E818_splice NM_001252100 NP_001239029 O75037 KI21B_HUMAN Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA. 818 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 TGAGCTCACCTCCTGGGTCTT 0.607000 13 14 0 0 0.000308642 0 0 IGSF1 3547 broad.mit.edu 37 X 130408600 130408600 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chrX:130408600C>T uc004ewe.4 - 17 4022 c.3739G>A c.(3739-3741)Gat>Aat p.D1247N IGSF1_uc004ewd.3_Missense_Mutation_p.D1242N|IGSF1_uc022cdv.1_Missense_Mutation_p.D1233N|IGSF1_uc004ewf.2_Missense_Mutation_p.D1222N NM_001170961 NP_001164432 Q8N6C5 IGSF1_HUMAN Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA. 1242 regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 TCCAGGGGATCACTAGGCTCT 0.542000 20 51 0 0 0.000781405 0 0 CEP350 9857 broad.mit.edu 37 1 179989945 179989945 + Missense_Mutation SNP A T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:179989945A>T uc001gnt.3 + 11 3419 c.3036A>T c.(3034-3036)ttA>ttT p.L1012F CEP350_uc009wxl.2_Missense_Mutation_p.L1011F|CEP350_uc001gnu.3_Missense_Mutation_p.L846F NM_014810 NP_055625 Q5VT06 CE350_HUMAN Homo sapiens centrosomal protein 350kDa (CEP350), mRNA. 1012 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 CAGAAATTTTAAAAGAAAAGG 0.408000 62 27 0 0 0.000720815 0 0 STAB2 55576 broad.mit.edu 37 12 104109615 104109615 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:104109615C>T uc001tjw.3 + 42 4746 c.4560C>T c.(4558-4560)aaC>aaT p.N1520N STAB2_uc009zug.3_Non-coding_Transcript NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN Homo sapiens stabilin 2 (STAB2), mRNA. 1520 EGF-like 13. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 GTTTGGAGAACCATGGTGGCT 0.502000 19 29 0 0 0.00209593 0 0 ABCB4 5244 broad.mit.edu 37 7 87037460 87037460 + Missense_Mutation SNP C G G rs140387595 byFrequency TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:87037460C>G uc003uiv.1 - 24 3248 c.3172G>C c.(3172-3174)Gag>Cag p.E1058Q ABCB4_uc003uiw.1_Missense_Mutation_p.E1058Q|ABCB4_uc003uix.1_Missense_Mutation_p.E1011Q NM_018849 NP_061337 P21439 MDR3_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA. 1058 ABC transporter 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) TTCTTCACCTCCAGGCTCAGC 0.532000 40 25 0 0 0.00278032 0 0 C16orf88 400506 broad.mit.edu 37 16 19726325 19726325 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr16:19726325C>T uc002dgq.3 - 1 48 c.33G>A c.(31-33)ggG>ggA p.G11G IQCK_uc002dgr.3_5'Flank|IQCK_uc002dgs.3_5'Flank|IQCK_uc010vat.2_5'Flank|IQCK_uc010bwc.3_5'Flank|IQCK_uc010vau.2_5'Flank NM_001012991 NP_001013009 Q1ED39 CP088_HUMAN Homo sapiens chromosome 16 open reading frame 88 (C16orf88), mRNA. 11 nucleolus central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1) 13 TCTCTGGGAGCCCAAGGTCTA 0.378000 51 33 0 0 0.00128727 0 0 DRD5 1816 broad.mit.edu 37 4 9784667 9784667 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr4:9784667G>A uc003gmb.4 + 0 1410 c.1014G>A c.(1012-1014)gaG>gaA p.E338E NM_000798 NP_000789 P21918 DRD5_HUMAN Homo sapiens dopamine receptor D5 (DRD5), mRNA. 338 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) GCGTCAGTGAGACCACCTTCG 0.587000 42 34 0 0 0.00111076 0 0 IL1RAP 3556 broad.mit.edu 37 3 190322008 190322008 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:190322008C>T uc010hzg.2 + 4 577 c.156C>T c.(154-156)caC>caT p.H52H IL1RAP_uc003fsk.3_Silent_p.H52H|IL1RAP_uc003fsl.3_Silent_p.H52H|IL1RAP_uc003fsm.2_Silent_p.H52H|IL1RAP_uc003fso.2_Silent_p.H52H|IL1RAP_uc003fsn.2_Non-coding_Transcript|IL1RAP_uc003fsp.2_Non-coding_Transcript|IL1RAP_uc003fsq.3_Silent_p.H52H NM_001167928 NP_002173 Q9NPH3 IL1AP_HUMAN Homo sapiens interleukin 1 receptor accessory protein (IL1RAP), transcript variant 3, mRNA. 52 Ig-like C2-type 1. inflammatory response|innate immune response|protein complex assembly extracellular region|integral to plasma membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 20 all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21) Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06) GBM - Glioblastoma multiforme(93;0.00851) TCTTTGAACACTTCTTGAAAT 0.493000 41 11 0 0 0.00136819 0 0 POTEC 388468 broad.mit.edu 37 18 14537894 14537894 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr18:14537894C>T uc010dln.3 - 2 1170 c.716G>A c.(715-717)gGa>gAa p.G239E POTEC_uc010xaj.2_Non-coding_Transcript NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA. 239 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 AGTGGTATTTCCATACTCATC 0.383000 76 35 0 0 0.00283554 0 0 APCS 325 broad.mit.edu 37 1 159558294 159558294 + Silent SNP G A A rs41317511 TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:159558294G>A uc001ftv.3 + 1 564 c.468G>A c.(466-468)caG>caA p.Q156Q NM_001639 NP_001630 P02743 SAMP_HUMAN Homo sapiens amyloid P component, serum (APCS), mRNA. 156 Pentaxin. acute-phase response|chaperone-mediated protein complex assembly|protein folding extracellular space metal ion binding|sugar binding|unfolded protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2) 20 all_hematologic(112;0.0429) GGCAGGAACAGGATTCCTATG 0.493000 28 15 0 0 0.000308642 0 0 LUZP2 338645 broad.mit.edu 37 11 24936070 24936070 + Missense_Mutation SNP G A A rs138759346 by1000genomes TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:24936070G>A uc001mqs.3 + 6 782 c.508G>A c.(508-510)Gat>Aat p.D170N LUZP2_uc009yif.3_Missense_Mutation_p.D84N|LUZP2_uc009yig.3_Intron NM_001009909 NP_001009909 Q86TE4 LUZP2_HUMAN Homo sapiens leucine zipper protein 2 (LUZP2), transcript variant 1, mRNA. 170 Leucine-zipper. extracellular region central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 32 TGGGAAGAAGGATTTATTATT 0.313000 27 8 0 0 0.000978159 0 0 DNAH8 1769 broad.mit.edu 37 6 38854694 38854694 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr6:38854694G>A uc021yzh.1 + 56 8496 c.8387G>A c.(8386-8388)cGa>cAa p.R2796Q DNAH8_uc003ooe.2_Missense_Mutation_p.R2579Q 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 GGAGGTGGTCGAAATGATATT 0.373000 38 27 0 0 0.000720815 0 0 ITGA10 8515 broad.mit.edu 37 1 145531024 145531024 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:145531024C>T uc001eoa.3 + 6 832 c.756C>T c.(754-756)gcC>gcT p.A252A ITGA10_uc010oyv.2_Silent_p.A121A|ITGA10_uc009wiw.3_Silent_p.A109A|ITGA10_uc010oyw.2_Silent_p.A197A NM_003637 NP_003628 O75578 ITA10_HUMAN Homo sapiens integrin, alpha 10 (ITGA10), mRNA. 252 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity p.A252S(1) NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TAATGGTGGCCTGGTGAGGCA 0.557000 35 9 0 0 0.000978159 0 0 C7 730 broad.mit.edu 37 5 40981538 40981538 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr5:40981538G>A uc003jmh.3 + 17 2509 c.2395G>A c.(2395-2397)Gaa>Aaa p.E799K NM_000587 NP_000578 P10643 CO7_HUMAN Homo sapiens complement component 7 (C7), mRNA. 799 Complement control factor I module 2. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) GGAGTGCGAGGAAGAAGGGTT 0.522000 9 19 0 0 0.00188189 0 0 ADAM30 11085 broad.mit.edu 37 1 120438014 120438014 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:120438014C>T uc001eij.3 - 0 1134 c.946G>A c.(946-948)Gaa>Aaa p.E316K NM_021794 NP_068566 Q9UKF2 ADA30_HUMAN Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA. 316 Peptidase M12B. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) CCAGCATATTCTAGAGAACAC 0.408000 411 231 0 0 0.000781405 0 0 NFASC 23114 broad.mit.edu 37 1 204948166 204948167 + Missense_Mutation DNP CC TT TT TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:204948166_204948167CC>TT uc010prc.2 + 16 2177_2178 c.648_649CC>TT c.(646-651)atcccc>atTTcc p.P217S NFASC_uc001hbj.3_Missense_Mutation_p.P650S|NFASC_uc010pra.2_Missense_Mutation_p.P646S|NFASC_uc001hbi.3_Missense_Mutation_p.P646S|NFASC_uc010prb.2_Missense_Mutation_p.P661S|NFASC_uc001hbk.1_Missense_Mutation_p.P456S|NFASC_uc001hbl.2_5'Flank O94856 NFASC_HUMAN Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA. 650 Ig-like C2-type 2. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) TGACCTGGATCCCCGGGGATGC 0.649000 3 3 0 0 6.4e-05 0 0 TTN 7273 broad.mit.edu 37 2 179644115 179644115 + Missense_Mutation SNP T A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:179644115T>A uc021vsy.1 - 22 4029 c.3804A>T c.(3802-3804)gaA>gaT p.E1268D TTN_uc021vsz.1_Missense_Mutation_p.E1222D|TTN_uc021vta.1_Missense_Mutation_p.E1222D|TTN_uc021vtb.1_Missense_Mutation_p.E1222D|TTN_uc002unb.2_Missense_Mutation_p.E1268D|AK123298_uc002unc.1_Intron NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 1268 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) CAAGAAGTTCTTCTAATGTAG 0.299000 22 11 0 0 0.000673444 0 0 LRRC3B 116135 broad.mit.edu 37 3 26751332 26751332 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:26751332G>A uc003cdp.3 + 1 758 c.169G>A c.(169-171)Gaa>Aaa p.E57K LRRC3B_uc003cdq.3_Missense_Mutation_p.E57K|LRRC3B_uc021wuj.1_Missense_Mutation_p.E57K NM_052953 NP_443185 Q96PB8 LRC3B_HUMAN Homo sapiens leucine rich repeat containing 3B (LRRC3B), mRNA. 57 LRRNT. integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 21 AAATCTCAAGGAAATACCTAG 0.413000 16 27 0 0 0.0024448 0 0 CLEC14A 161198 broad.mit.edu 37 14 38724353 38724353 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr14:38724353C>T uc001wum.1 - 0 1222 c.875G>A c.(874-876)gGa>gAa p.G292E NM_175060 NP_778230 Q86T13 CLC14_HUMAN Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA. 292 integral to membrane sugar binding breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) GGTCGGCTGTCCTTCCCCACT 0.667000 18 18 0 0 0.00074312 0 0 LRRN1 57633 broad.mit.edu 37 3 3886446 3886446 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:3886446C>T uc003bpt.4 + 1 882 c.121C>T c.(121-123)Cgt>Tgt p.R41C SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Missense_Mutation_p.R41C NM_020873 NP_065924 Q6UXK5 LRRN1_HUMAN Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA. 41 LRRNT. integral to membrane p.R41H(1) NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 26 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) ATGTGAAATTCGTCCCTGGTT 0.458000 19 33 0 0 0.00283554 0 0 GTF3C1 2975 broad.mit.edu 37 16 27503770 27503770 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr16:27503770G>A uc002dov.2 - 18 3080 c.3040C>T c.(3040-3042)Ctg>Ttg p.L1014L GTF3C1_uc002dou.3_Silent_p.L1014L NM_001520 NP_001511 Q12789 TF3C1_HUMAN Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA. 1014 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 CTGCGGGCCAGGTTGTAATGT 0.522000 70 22 0 0 0.000720815 0 0 DCC 1630 broad.mit.edu 37 18 50683833 50683833 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr18:50683833G>A uc002lfe.2 + 7 1985 c.1369G>A c.(1369-1371)Ggg>Agg p.G457R DCC_uc010xdr.1_Missense_Mutation_p.G305R|DCC_uc010dpf.2_Missense_Mutation_p.G112R NM_005215 NP_005206 P43146 DCC_HUMAN Homo sapiens deleted in colorectal carcinoma (DCC), mRNA. 457 Fibronectin type-III 1. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) AGAAGCGAAAGGGAACATTCA 0.498000 41 26 0 0 0.000720815 0 0 TMEM119 338773 broad.mit.edu 37 12 108985890 108985890 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:108985890G>A uc001tng.3 - 1 433 c.270C>T c.(268-270)ttC>ttT p.F90F TMEM119_uc021rdl.1_Silent_p.F90F NM_181724 NP_859075 Q4V9L6 TM119_HUMAN Homo sapiens transmembrane protein 119 (TMEM119), mRNA. 90 integral to membrane large_intestine(2)|lung(3)|ovary(1)|skin(1) 7 ACTGGCGGAAGAAGTCCACTA 0.632000 11 10 0 0 0.00185496 0 0 DEFA4 1669 broad.mit.edu 37 8 6794346 6794346 + Missense_Mutation SNP C A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:6794346C>A uc003wqu.1 - 1 127 c.76G>T c.(76-78)Ggt>Tgt p.G26C NM_001925 NP_001916 P12838 DEF4_HUMAN Homo sapiens defensin, alpha 4, corticostatin (DEFA4), mRNA. 26 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1) 10 COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) GCCTCATCACCTCTTGCCTGG 0.577000 35 16 1.5739e-10 6.31582e-10 0.000422831 1 0 PYHIN1 149628 broad.mit.edu 37 1 158906860 158906860 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:158906860G>A uc001ftb.3 + 1 410 c.160G>A c.(160-162)Gaa>Aaa p.E54K PYHIN1_uc001fta.4_Missense_Mutation_p.E54K|PYHIN1_uc001ftc.3_Missense_Mutation_p.E54K|PYHIN1_uc001ftd.3_Missense_Mutation_p.E54K|PYHIN1_uc001fte.3_Missense_Mutation_p.E54K NM_152501 NP_689714 Q6K0P9 IFIX_HUMAN Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA. 54 DAPIN. cell cycle nuclear speck breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(112;0.0378) CTTGATGGAGGAAAAGTTCCC 0.348000 46 30 0 0 0.00127121 0 0 C9orf78 51759 broad.mit.edu 37 9 132595788 132595788 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr9:132595788G>A uc004byp.3 - 3 276 c.204C>T c.(202-204)ccC>ccT p.P68P C9orf78_uc004byo.3_5'UTR|C9orf78_uc004byq.1_Silent_p.P14P|USP20_uc004bys.2_5'Flank|USP20_uc004byr.2_5'Flank|USP20_uc004byt.1_5'Flank NM_016520 NP_057604 Q9NZ63 CI078_HUMAN Homo sapiens chromosome 9 open reading frame 78 (C9orf78), mRNA. 68 kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2) 13 Ovarian(14;0.00556) TCATCTGAAAGGGATCATCCT 0.398000 14 28 0 0 0.00209593 0 0 DOT1L 84444 broad.mit.edu 37 19 2220136 2220136 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:2220136C>T uc002lvc.1 + 8 1370 c.603C>T c.(601-603)ccC>ccT p.P201P DOT1L_uc002lvb.4_Silent_p.P907P|DOT1L_uc002lve.1_Silent_p.P201P NM_032482 NP_115871 Q8TEK3 DOT1L_HUMAN Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA. 907 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9) 42 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) TGCTGCAGCCCCGTGACCCCT 0.637000 11 12 0 0 0.00074312 0 0 TRIM55 84675 broad.mit.edu 37 8 67064740 67064740 + Missense_Mutation SNP A T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:67064740A>T uc003xvv.3 + 7 1340 c.1114A>T c.(1114-1116)Aac>Tac p.N372Y TRIM55_uc003xvu.3_Missense_Mutation_p.N372Y|TRIM55_uc003xvw.3_Missense_Mutation_p.N372Y|TRIM55_uc003xvx.3_Intron NM_184085 NP_908973 Q9BYV6 TRI55_HUMAN Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA. 372 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 39 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) AGAAGATGAAAACCCAGAAAA 0.527000 41 33 0 0 0.000953801 0 0 TMEM169 92691 broad.mit.edu 37 2 216965042 216965042 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:216965042C>T uc010zjr.2 + 3 997 c.671C>T c.(670-672)tCc>tTc p.S224F TMEM169_uc010zjs.2_Missense_Mutation_p.S224F|TMEM169_uc002vfw.3_Missense_Mutation_p.S224F|TMEM169_uc002vfv.4_Missense_Mutation_p.S224F NM_001142310 NP_612399 Q96HH4 TM169_HUMAN Homo sapiens transmembrane protein 169 (TMEM169), transcript variant 1, mRNA. 224 integral to membrane breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2) 13 Renal(323;0.0651) Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ATGGCTTCTTCCCTCGGCCTC 0.562000 89 35 0 0 0.00111076 0 0 SBF1 6305 broad.mit.edu 37 22 50894685 50894685 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr22:50894685G>A uc003blh.3 - 30 4421 c.4226C>T c.(4225-4227)tCc>tTc p.S1409F SBF1_uc003ble.3_5'Flank|SBF1_uc011arx.2_Missense_Mutation_p.S1047F NM_002972 NP_002963 O95248 MTMR5_HUMAN Homo sapiens SET binding factor 1 (SBF1), mRNA. 1383 Myotubularin phosphatase. protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 43 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) GCGCAGGAAGGAGGCTGGGCT 0.637000 15 4 0 0 0.00024832 0 0 ALPK2 115701 broad.mit.edu 37 18 56184326 56184326 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr18:56184326G>A uc002lhj.4 - 8 5968 c.5754C>T c.(5752-5754)atC>atT p.I1918I NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN Homo sapiens alpha-kinase 2 (ALPK2), mRNA. 1918 Alpha-type protein kinase. ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 CCTCCGTGGCGATCTGACCAC 0.547000 21 23 0 0 0.00278032 0 0 KRTAP17-1 83902 broad.mit.edu 37 17 39471884 39471884 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr17:39471884C>T uc002hwj.3 - 0 64 c.19G>A c.(19-21)Gac>Aac p.D7N NM_031964 NP_114170 Q9BYP8 KR171_HUMAN Homo sapiens keratin associated protein 17-1 (KRTAP17-1), mRNA. 7 intermediate filament haematopoietic_and_lymphoid_tissue(1)|large_intestine(1) 2 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) GTGAAGCAGTCCCCCGGGCAG 0.677000 5 13 0 0 0.00244969 0 0 CEP350 9857 broad.mit.edu 37 1 180062691 180062691 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:180062691C>T uc001gnt.3 + 33 7834 c.7451C>T c.(7450-7452)tCc>tTc p.S2484F CEP350_uc009wxl.2_Missense_Mutation_p.S2483F|CEP350_uc001gnv.3_Missense_Mutation_p.S619F|CEP350_uc001gnw.1_Missense_Mutation_p.S241F|CEP350_uc001gnx.1_Missense_Mutation_p.S241F NM_014810 NP_055625 Q5VT06 CE350_HUMAN Homo sapiens centrosomal protein 350kDa (CEP350), mRNA. 2484 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 GAATCCCCTTCCTTGGCTTCA 0.453000 26 13 0 0 0.00136819 0 0 ZNF71 58491 broad.mit.edu 37 19 57133224 57133224 + Missense_Mutation SNP A T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:57133224A>T uc002qnm.4 + 2 807 c.569A>T c.(568-570)gAc>gTc p.D190V ZNF71_uc021vcg.1_Missense_Mutation_p.D190V NM_021216 NP_067039 Q9NQZ8 ZNF71_HUMAN Homo sapiens zinc finger protein 71 (ZNF71), mRNA. 190 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) GCCTGCGGGGACTGCGGCAAG 0.637000 22 22 0 0 0.00152264 0 0 CCDC7 221016 broad.mit.edu 37 10 32856725 32856725 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr10:32856725C>T uc001iwj.3 + 15 1895 c.1325C>T c.(1324-1326)tCa>tTa p.S442L CCDC7_uc001iwk.3_Missense_Mutation_p.S442L|CCDC7_uc009xlv.3_Non-coding_Transcript|C10orf68_uc001iwl.1_5'UTR|C10orf68_uc001iwm.1_5'UTR|C10orf68_uc001iwn.4_5'UTR NM_145023 NP_659460 Q96M83 CCDC7_HUMAN Homo sapiens coiled-coil domain containing 7 (CCDC7), transcript variant 1, mRNA. 442 NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2) 14 Breast(68;0.000207)|Prostate(175;0.0107) GGTGAAGATTCAAAAAATATA 0.348000 15 25 0 0 0.000586117 0 0 PPL 5493 broad.mit.edu 37 16 4949107 4949107 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr16:4949107C>T uc002cyd.1 - 7 873 c.783G>A c.(781-783)cgG>cgA p.R261R NM_002705 NP_002696 O60437 PEPL_HUMAN Homo sapiens periplakin (PPL), mRNA. 261 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton p.R261Q(1) breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 CCTCCAGGTTCCGGTTGATGA 0.637000 44 23 0 0 0.00047179 0 0 SYT10 341359 broad.mit.edu 37 12 33559882 33559882 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:33559882C>T uc001rll.1 - 2 1216 c.919G>A c.(919-921)Gat>Aat p.D307N SYT10_uc009zju.1_Missense_Mutation_p.D117N NM_198992 NP_945343 Q6XYQ8 SYT10_HUMAN Homo sapiens synaptotagmin X (SYT10), mRNA. 307 C2 1. cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) CTTAGTTGATCATATGCTACA 0.343000 37 23 0 0 0.00229938 0 0 CXADRP2 646243 broad.mit.edu 37 15 22016238 22016238 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr15:22016238G>A uc010tzk.1 - 0 641 c.479C>T c.(478-480)tCa>tTa p.S160L Homo sapiens coxsackie virus and adenovirus receptor pseudogene 2 (CXADRP2), non-coding RNA. TGCTAACCATGAAGTGGGCAT 0.378000 52 6 0 0 0.00198382 0 0 C8A 731 broad.mit.edu 37 1 57349331 57349331 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:57349331G>A uc001cyo.2 + 5 964 c.832G>A c.(832-834)Gaa>Aaa p.E278K NM_000562 NP_000553 P07357 CO8A_HUMAN Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA. 278 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 43 ATTCTTGAACGAATTAAACAA 0.403000 31 17 0 0 0.000566183 0 0 ABHD13 84945 broad.mit.edu 37 13 108882144 108882144 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr13:108882144C>T uc001vqq.3 + 1 843 c.578C>T c.(577-579)tCc>tTc p.S193F ABHD13_uc021rml.1_Missense_Mutation_p.S193F NM_032859 NP_116248 Q7L211 ABHDD_HUMAN Homo sapiens abhydrolase domain containing 13 (ABHD13), mRNA. 193 integral to membrane hydrolase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 17 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) TTTGGCCGTTCCTTGGGTGGA 0.403000 55 30 0 0 0.00127121 0 0 MSLNL 401827 broad.mit.edu 37 16 824237 824237 + Missense_Mutation SNP A T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr16:824237A>T uc002cjz.1 - 8 1919 c.1919T>A c.(1918-1920)tTc>tAc p.F640Y NM_001025190 NP_001020361 Q96KJ4 MSLNL_HUMAN Homo sapiens mesothelin-like (MSLNL), mRNA. 289 cell adhesion integral to membrane breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 36 GGACTCCAGGAAGCTGGTGAC 0.677000 9 4 0 0 0.000602214 0 0 SLC11A1 6556 broad.mit.edu 37 2 219249953 219249953 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:219249953G>A uc002vhv.3 + 3 697 c.357G>A c.(355-357)aaG>aaA p.K119K SLC11A1_uc010zkb.1_Silent_p.K119K|SLC11A1_uc010fvp.1_Silent_p.K119K|SLC11A1_uc010fvq.1_Silent_p.K52K|SLC11A1_uc010zkc.1_Silent_p.K52K|SLC11A1_uc002vhu.1_5'UTR|SLC11A1_uc002vhw.3_5'UTR|SLC11A1_uc010fvr.3_5'Flank NM_000578 NP_000569 P49279 NRAM1_HUMAN Homo sapiens solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 (SLC11A1), mRNA. 119 L-arginine import|MHC class II biosynthetic process|T cell cytokine production|T cell proliferation involved in immune response|activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|mRNA stabilization|macrophage activation|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|vacuolar acidification|wound healing integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 19 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGACAGGCAAGGACTTGGGCG 0.622000 60 15 0 0 0.000308642 0 0 LRRC37B 114659 broad.mit.edu 37 17 30348852 30348852 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr17:30348852G>A uc002hgu.3 + 0 698 c.687G>A c.(685-687)atG>atA p.M229I LRRC37B_uc010wbx.2_Missense_Mutation_p.M147I|LRRC37B_uc010csu.3_Missense_Mutation_p.M229I NM_052888 NP_443120 Q96QE4 LR37B_HUMAN Homo sapiens leucine rich repeat containing 37B (LRRC37B), mRNA. 229 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 29 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244) ATTTGAGTATGGACACACTGT 0.498000 25 45 0 0 0.000680045 0 0 CNGB3 54714 broad.mit.edu 37 8 87616424 87616424 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:87616424C>T uc003ydx.3 - 14 1726 c.1678G>A c.(1678-1680)Gaa>Aaa p.E560K CNGB3_uc010maj.3_Missense_Mutation_p.E422K NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA. 560 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 ATATACATTTCCTTGCCAATT 0.338000 31 15 0 0 0.000308642 0 0 PKP3 11187 broad.mit.edu 37 11 396967 396968 + Missense_Mutation DNP CC TT TT TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:396967_396968CC>TT uc021qbk.1 + 3 540_541 c.511_512CC>TT c.(511-513)ccc>TTc p.P171F PKP3_uc001lpc.3_Missense_Mutation_p.P156F NM_007183 NP_009114 Q9Y446 PKP3_HUMAN Homo sapiens plakophilin 3 (PKP3), mRNA. 156 cell adhesion desmosome|nucleus binding breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) GCCCACCCCTCCCATGCCCACC 0.718000 11 4 0 0 6.4e-05 0 0 AFP 174 broad.mit.edu 37 4 74302028 74302028 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr4:74302028G>A uc003hgz.1 + 0 96 c.49G>A c.(49-51)Gaa>Aaa p.E17K AFP_uc003hgy.1_Intron NM_001134 NP_001125 P02771 FETA_HUMAN Homo sapiens alpha-fetoprotein (AFP), mRNA. 17 transport metal ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1) 22 Breast(15;0.00102) Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) AAATTTTACTGAATCCAGAAC 0.284000 Alpha-Fetoprotein, Hereditary Persistence of 30 21 0 0 0.000878237 0 0 OR4A47 403253 broad.mit.edu 37 11 48510399 48510399 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:48510399C>T uc010rhx.2 + 0 55 c.55C>T c.(55-57)Cca>Tca p.P19S NM_001005512 NP_001005512 Q6IF82 O4A47_HUMAN Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA. 19 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 CACACAGAATCCAAAGGAGCA 0.418000 23 10 0 0 0.000978159 0 0 NPHS1 4868 broad.mit.edu 37 19 36330412 36330412 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:36330412C>T uc002oby.3 - 20 3069 c.2913G>A c.(2911-2913)caG>caA p.Q971Q NPHS1_uc010eem.1_5'Flank NM_004646 NP_004637 O60500 NPHN_HUMAN Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA. 971 Fibronectin type-III. cell adhesion|excretion|muscle organ development integral to plasma membrane NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 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) TGCAGAACCTCTGTGGCAGGC 0.592000 40 37 0 0 0.000781405 0 0 MCF2L2 23101 broad.mit.edu 37 3 183017899 183017899 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:183017899G>A uc003fli.1 - 10 1289 c.1199C>T c.(1198-1200)cCc>cTc p.P400L MCF2L2_uc003flj.1_Missense_Mutation_p.P400L|MCF2L2_uc011bqr.1_Non-coding_Transcript|MCF2L2_uc003flp.1_3'UTR NM_015078 NP_055893 Q86YR7 MF2L2_HUMAN Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA. 400 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) CACACACCGGGGCCTGATGGC 0.512000 38 12 0 0 0.00136819 0 0 SLC24A1 9187 broad.mit.edu 37 15 65916838 65916838 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr15:65916838G>A uc010ujf.2 + 1 707 c.420G>A c.(418-420)agG>agA p.R140R SLC24A1_uc010ujd.1_Silent_p.R140R|SLC24A1_uc010uje.1_Silent_p.R140R|SLC24A1_uc010ujg.2_Silent_p.R140R|SLC24A1_uc010ujh.2_Silent_p.R140R NM_004727 NP_004718 O60721 NCKX1_HUMAN Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 (SLC24A1), transcript variant 1, mRNA. 140 response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 CAGAAAGAAGGAAGGAAGACA 0.438000 11 5 0 0 0.000602214 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140221258 140221258 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr5:140221258C>T uc003lhs.2 + 0 352 c.352C>T c.(352-354)Cat>Tat p.H118Y 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_uc003lhr.1_Missense_Mutation_p.H118Y NM_018911 NP_061734 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA. 133 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) GCAGGTTTTCCATGTGGACGT 0.557000 38 61 0 0 0.000781405 0 0 ABP1 26 broad.mit.edu 37 7 150553714 150553714 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:150553714G>A uc003why.1 + 2 4374 c.156G>A c.(154-156)aaG>aaA p.K52K ABP1_uc003whz.1_Silent_p.K52K|ABP1_uc003wia.1_Silent_p.K52K NM_001091 NP_001082 P19801 ABP1_HUMAN Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA. 52 amine metabolic process extracellular space|peroxisome copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiloride(DB00594)|Spermine(DB00127) GGTCCAAGAAGGAGCTGAGGC 0.582000 35 23 0 0 0.00047179 0 0 GPS2 2874 broad.mit.edu 37 17 7230508 7230508 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr17:7230508G>A uc002gga.1 - 2 776 c.769C>T c.(769-771)Cct>Tct p.P257S GPS2_uc002ggb.1_Missense_Mutation_p.P257S|GPS2_uc002ggc.1_5'Flank NM_032442 NP_115818 Q13227 GPS2_HUMAN Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA. 0 JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter transcriptional repressor complex GTPase inhibitor activity|protein binding|transcription corepressor activity breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4) 24 Prostate(122;0.157) AGGCTGTTAGGAAACGTCTCC 0.627000 8 9 0 0 0.000673444 0 0 ZAN 7455 broad.mit.edu 37 7 100349913 100349913 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:100349913G>A uc003uwj.3 + 13 2350 c.2185G>A c.(2185-2187)Gaa>Aaa p.E729K ZAN_uc003uwk.3_Missense_Mutation_p.E729K|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript NM_003386 NP_003377 Q9Y493 ZAN_HUMAN Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA. 729 66 X heptapeptide repeats (approximate) (mucin-like domain). binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CATCCCCACAGAAAAATCCAC 0.522000 21 12 0 0 0.00136819 0 0 SLC6A4 6532 broad.mit.edu 37 17 28538366 28538366 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr17:28538366G>A uc002hey.4 - 9 1825 c.1281C>T c.(1279-1281)ttC>ttT p.F427F SLC6A4_uc010csg.3_Non-coding_Transcript NM_001045 NP_001036 P31645 SC6A4_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4), mRNA. 427 response to toxin|serotonin uptake|thalamus development cytosol|endomembrane system|endosome membrane|membrane raft Rab GTPase binding|actin filament binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4) 25 Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832) ACATCAGAAAGAAGATGATGG 0.537000 16 25 0 0 0.00106085 0 0 ZNF208 7757 broad.mit.edu 37 19 22171613 22171613 + Silent SNP T C C TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:22171613T>C uc021urr.1 - 1 251 c.102A>G c.(100-102)ttA>ttG p.L34L ZNF208_uc002nqo.1_Silent_p.L34L|ZNF208_uc002nqq.3_Non-coding_Transcript 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) TGTAGTTCTCTAACATCACAT 0.413000 33 40 0 0 0.00222228 0 0 SORT1 6272 broad.mit.edu 37 1 109859567 109859567 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:109859567G>A uc001dxm.2 - 16 2204 c.2155C>T c.(2155-2157)Cca>Tca p.P719S SORT1_uc010ovi.2_Missense_Mutation_p.P582S NM_002959 NP_002950 Q99523 SORT_HUMAN Homo sapiens sortilin 1 (SORT1), transcript variant 1, mRNA. 719 Interactions with LRPAP1 and NGFB. Golgi to endosome transport|endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization Golgi cisterna membrane|cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1) 26 all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184) TTGTCCCCTGGAATTTTCCGG 0.413000 225 126 0 0 0.000781405 0 0 CCDC40 55036 broad.mit.edu 37 17 78055753 78055753 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr17:78055753G>A uc010dht.3 + 11 1916 c.1885G>A c.(1885-1887)Gat>Aat p.D629N CCDC40_uc021uem.1_Missense_Mutation_p.D629N|CCDC40_uc002jxm.4_Missense_Mutation_p.D412N|CCDC40_uc002jxn.4_Missense_Mutation_p.D25N NM_017950 NP_060420 Q4G0X9 CCD40_HUMAN Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA. 629 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 38 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) GAGGAAGACGGATGCTGCCAT 0.567000 25 14 0 0 0.00244969 0 0 SLIT2 9353 broad.mit.edu 37 4 20598263 20598263 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr4:20598263G>A uc003gpr.1 + 31 3750 c.3546G>A c.(3544-3546)acG>acA p.T1182T SLIT2_uc003gps.1_Silent_p.T1174T NM_004787 NP_004778 O94813 SLIT2_HUMAN Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA. 1182 Laminin G-like. Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 GGCCTCAGACGAACATAACAC 0.383000 25 19 0 0 0.00152264 0 0 ABCA2 20 broad.mit.edu 37 9 139906452 139906452 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr9:139906452G>A uc004ckm.1 - 34 5516 c.5466C>T c.(5464-5466)gtC>gtT p.V1822V ABCA2_uc022bpy.1_Silent_p.V1723V|ABCA2_uc022bpz.1_Silent_p.V1793V|ABCA2_uc011mem.1_Silent_p.V1792V|ABCA2_uc004ckl.1_Silent_p.V1723V NM_212533 NP_997698 Q9BZC7 ABCA2_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA. 1792 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) TGGCGATGACGACATCCGTGC 0.637000 6 23 0 0 0.000720815 0 0 SPATC1 375686 broad.mit.edu 37 8 145095179 145095179 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:145095179C>T uc011lkw.2 + 1 683 c.581C>T c.(580-582)tCt>tTt p.S194F SPATC1_uc011lkx.2_Missense_Mutation_p.S194F NM_198572 NP_940974 Q76KD6 SPERI_HUMAN Homo sapiens spermatogenesis and centriole associated 1 (SPATC1), transcript variant 1, mRNA. 194 NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GTGGCTGTCTCTCTGAGCAGC 0.667000 26 14 0 0 0.000566183 0 0 SUV420H1 51111 broad.mit.edu 37 11 67925386 67925386 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:67925386C>T uc001onm.1 - 10 2683 c.2427G>A c.(2425-2427)ttG>ttA p.L809L SUV420H1_uc009yse.1_Silent_p.L395L|SUV420H1_uc001onn.1_Silent_p.L637L|SUV420H1_uc009ysf.2_Silent_p.L569L NM_017635 NP_060105 Q4FZB7 SV421_HUMAN Homo sapiens suppressor of variegation 4-20 homolog 1 (Drosophila) (SUV420H1), transcript variant 1, mRNA. 809 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 TTCGAGACTCCAAGAGAGAAA 0.443000 118 66 0 0 0.000781405 0 0 ZMIZ2 83637 broad.mit.edu 37 7 44801501 44801501 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:44801501C>T uc003tlr.3 + 10 1716 c.1593C>T c.(1591-1593)tgC>tgT p.C531C ZMIZ2_uc003tlq.3_Silent_p.C473C|ZMIZ2_uc003tls.3_Silent_p.C505C|ZMIZ2_uc003tlt.3_Silent_p.C154C|ZMIZ2_uc010kyj.3_Silent_p.C53C NM_031449 NP_113637 Q8NF64 ZMIZ2_HUMAN Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA. 531 positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 CCGCCTGCTGCTGCGTGCGTG 0.706000 23 8 0 0 0.000274275 0 0 ACAN 176 broad.mit.edu 37 15 89400408 89400408 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr15:89400408G>A uc010upo.1 + 11 4966 c.4592G>A c.(4591-4593)gGa>gAa p.G1531E ACAN_uc010upp.1_Missense_Mutation_p.G1531E|ACAN_uc002bna.2_Non-coding_Transcript NM_013227 NP_037359 E7EX88 E7EX88_HUMAN Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA. 1531 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) CTCCCTTCTGGAGAAGAAGTT 0.507000 27 14 0 0 0.00185496 0 0 NAV3 89795 broad.mit.edu 37 12 78400287 78400287 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:78400287C>T uc001syp.3 + 7 1142 c.969C>T c.(967-969)atC>atT p.I323I NAV3_uc001syo.3_Silent_p.I323I NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN Homo sapiens neuron navigator 3 (NAV3), mRNA. 323 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 CCTCTGCCATCCCTTCTCCAA 0.532000 HNSCC(70;0.22) 21 33 0 0 0.0024448 0 0 OR10A4 283297 broad.mit.edu 37 11 6898405 6898405 + Missense_Mutation SNP A G G TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:6898405A>G uc010rat.2 + 0 550 c.527A>G c.(526-528)aAc>aGc p.N176S NM_207186 NP_997069 Q9H209 O10A4_HUMAN Homo sapiens olfactory receptor, family 10, subfamily A, member 4 (OR10A4), mRNA. 176 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 31 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) AACAGGGTGAACCACTTCTTC 0.522000 50 24 0 0 0.000878237 0 0 TNFRSF6B 8771 broad.mit.edu 37 20 62328225 62328225 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr20:62328225C>T uc002yfy.3 + 4 733 c.105C>T c.(103-105)acC>acT p.T35T RTEL1_uc002yfu.2_3'UTR|RTEL1_uc011abd.2_3'UTR|RTEL1_uc002yfw.3_Non-coding_Transcript|RTEL1_uc011abe.1_3'UTR|RTEL1_uc021wge.1_3'UTR|RTEL1_uc002yfx.1_3'UTR|TNFRSF6B_uc002yfz.3_Silent_p.T35T NM_003823 NP_003814 O95407 TNF6B_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 6b, decoy (TNFRSF6B), mRNA. 35 anti-apoptosis|apoptosis extracellular region|soluble fraction protein binding|receptor activity central_nervous_system(1)|lung(2)|skin(1) 4 all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08) Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504) AAACACCCACCTACCCCTGGC 0.726000 5 6 0 0 0.00198382 0 0 PEG3 5178 broad.mit.edu 37 19 57328178 57328178 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:57328178G>A uc002qnu.2 - 6 1983 c.1632C>T c.(1630-1632)ttC>ttT p.F544F PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Silent_p.F515F|PEG3_uc002qnv.2_Silent_p.F544F|PEG3_uc002qnw.2_Silent_p.F420F|PEG3_uc002qnx.2_Silent_p.F418F|PEG3_uc010etr.2_Silent_p.F544F NM_001146186 NP_001139657 Q9GZU2 PEG3_HUMAN Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA. 544 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) GGCTAGGCATGAAGGCTTCCT 0.453000 81 48 0 0 0.000781405 0 0 CDCA2 157313 broad.mit.edu 37 8 25343304 25343304 + Silent SNP T C C TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:25343304T>C uc003xep.1 + 10 1872 c.1395T>C c.(1393-1395)ttT>ttC p.F465F DOCK5_uc003xek.3_Intron|CDCA2_uc011lae.1_Silent_p.F465F|CDCA2_uc003xeq.1_Silent_p.F450F|CDCA2_uc003xer.1_Silent_p.F128F NM_152562 NP_689775 Q69YH5 CDCA2_HUMAN Homo sapiens cell division cycle associated 2 (CDCA2), mRNA. 465 cell division|mitosis cytoplasm|nucleus breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3) 35 all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443) AAGTATCATTTGCCGTTCTCA 0.313000 48 23 0 0 0.000586117 0 0 ZNF184 7738 broad.mit.edu 37 6 27424695 27424695 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr6:27424695G>A uc003njj.3 - 3 1019 c.208C>T c.(208-210)Caa>Taa p.Q70* ZNF184_uc010jqv.3_Nonsense_Mutation_p.Q70*|ZNF184_uc003nji.3_Nonsense_Mutation_p.Q70* NM_007149 NP_009080 Q99676 ZN184_HUMAN Homo sapiens zinc finger protein 184 (ZNF184), mRNA. 70 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 48 TTAGAAACTTGGAGTCCTGTT 0.418000 41 32 0 0 0.00283554 0 0 MSR1 4481 broad.mit.edu 37 8 16001079 16001079 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:16001079C>T uc010lsu.3 - 7 1139 c.1075G>A c.(1075-1077)Gga>Aga p.G359R MSR1_uc003wwz.3_Missense_Mutation_p.G341R|MSR1_uc003wxa.3_Missense_Mutation_p.G341R|MSR1_uc003wxb.3_Missense_Mutation_p.G341R|MSR1_uc011kxz.2_Missense_Mutation_p.G115R NM_138715 NP_619729 P21757 MSRE_HUMAN Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA. 341 SRCR. cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity p.H359H(3)|p.H359Y(1) haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) AATGTGTTTCCACTCCCCTTT 0.348000 37 19 0 0 0.00047179 0 0 SDCCAG8 10806 broad.mit.edu 37 1 243589849 243589849 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:243589849G>A uc001hzw.3 + 15 2143 c.1974G>A c.(1972-1974)acG>acA p.T658T SDCCAG8_uc010pyk.2_Silent_p.T513T|SDCCAG8_uc010pyl.2_Silent_p.T470T|SDCCAG8_uc001hzx.3_Silent_p.T391T NM_006642 NP_006633 Q86SQ7 SDCG8_HUMAN Homo sapiens serologically defined colon cancer antigen 8 (SDCCAG8), mRNA. 658 Gln-rich.|Mediates interaction with OFD1.|Sufficient for homodimerization (By similarity). G2/M transition of mitotic cell cycle|establishment of cell polarity|tube formation cell-cell junction|centriole|cytosol protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218) all_cancers(173;0.00395) all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392) COAD - Colon adenocarcinoma(196;0.145) TACATGAGACGATGAAGCAAA 0.393000 25 22 0 0 0.000586117 0 0 CALCRL 10203 broad.mit.edu 37 2 188216985 188216985 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:188216985G>A uc010frt.3 - 11 1367 c.984C>T c.(982-984)tcC>tcT p.S328S CALCRL_uc002upv.4_Silent_p.S328S NM_005795 NP_005786 Q16602 CALRL_HUMAN Homo sapiens calcitonin receptor-like (CALCRL), mRNA. 328 integral to plasma membrane endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227) TGTACAGATTGGATTCCGCTT 0.393000 31 14 0 0 0.000422831 0 0 NAV3 89795 broad.mit.edu 37 12 78593243 78593243 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:78593243G>A uc001syp.3 + 36 6820 c.6647G>A c.(6646-6648)tGg>tAg p.W2216* NAV3_uc001syo.3_Nonsense_Mutation_p.W2194*|NAV3_uc010sub.2_Nonsense_Mutation_p.W1673*|NAV3_uc009zsf.3_Nonsense_Mutation_p.W1025* NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN Homo sapiens neuron navigator 3 (NAV3), mRNA. 2216 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 ATTATAGATTGGATTCCGAAG 0.363000 HNSCC(70;0.22) 23 37 0 0 0.00148497 0 0 OR6C1 390321 broad.mit.edu 37 12 55715045 55715045 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:55715045G>A uc010spi.2 + 0 662 c.662G>A c.(661-663)aGa>aAa p.R221K NM_001005182 NP_001005182 Q96RD1 OR6C1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA. 221 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I220I(1) endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 25 TACATTATCAGAACAATTTTG 0.383000 15 28 0 0 0.00106085 0 0 AHNAK2 113146 broad.mit.edu 37 14 105410577 105410577 + Missense_Mutation SNP C A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr14:105410577C>A uc010axc.1 - 6 11331 c.11211G>T c.(11209-11211)aaG>aaT p.K3737N AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.K3637N NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA. 3737 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCTGGGGGCCCTTGAGGTCCA 0.627000 43 62 7.93689e-15 3.19409e-14 0.000781405 1 0 SYK 6850 broad.mit.edu 37 9 93629429 93629429 + Missense_Mutation SNP G A A rs143341039 TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr9:93629429G>A uc004aqz.3 + 6 1068 c.863G>A c.(862-864)gGa>gAa p.G288E SYK_uc004ara.3_Intron|SYK_uc004arb.3_Intron|SYK_uc004arc.3_Missense_Mutation_p.G288E|SYK_uc011ltt.2_Non-coding_Transcript|SYK_uc011ltr.2_Non-coding_Transcript|SYK_uc011lts.2_Non-coding_Transcript NM_003177 NP_003168 P43405 KSYK_HUMAN Homo sapiens spleen tyrosine kinase (SYK), transcript variant 1, mRNA. 288 Linker. cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly T cell receptor complex|cytosol ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2) 26 TCAGCGGGTGGAATAATCTCA 0.443000 T """ETV6, ITK""" """MDS, peripheral T-cell lymphoma""" 32 48 0 0 0.000781405 0 0 PLEC 5339 broad.mit.edu 37 8 144997235 144997235 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:144997235G>A uc003zaf.1 - 30 7443 c.7273C>T c.(7273-7275)Caa>Taa p.Q2425* PLEC_uc003zab.1_Nonsense_Mutation_p.Q2288*|PLEC_uc003zac.1_Nonsense_Mutation_p.Q2292*|PLEC_uc003zad.2_Nonsense_Mutation_p.Q2288*|PLEC_uc003zae.1_Nonsense_Mutation_p.Q2256*|PLEC_uc003zag.1_Nonsense_Mutation_p.Q2266*|PLEC_uc003zah.2_Nonsense_Mutation_p.Q2274*|PLEC_uc003zaj.2_Nonsense_Mutation_p.Q2315* NM_201380 NP_958782 Q15149 PLEC_HUMAN Homo sapiens plectin (PLEC), transcript variant 6, mRNA. 2425 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GCAGCCTCTTGGGCCGCCACA 0.642000 14 4 0 0 0.000602214 0 0 GPR123 84435 broad.mit.edu 37 10 134898530 134898530 + Missense_Mutation SNP G A A rs138358765 by1000genomes TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr10:134898530G>A uc001llw.3 + 7 1592 c.1592G>A c.(1591-1593)cGa>cAa p.R531Q GPR123_uc001llx.4_5'Flank Q86SQ6 GP123_HUMAN Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA. 0 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3) 14 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) GAATCCGGGCGATACGTGGTG 0.512000 18 33 0 0 0.00128727 0 0 CLCN7 1186 broad.mit.edu 37 16 1507738 1507738 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr16:1507738G>A uc002clv.2 - 7 805 c.695C>T c.(694-696)tCc>tTc p.S232F CLCN7_uc002clw.2_Missense_Mutation_p.S208F NM_001287 NP_001278 P51798 CLCN7_HUMAN Homo sapiens chloride channel 7 (CLCN7), transcript variant 1, mRNA. 232 integral to membrane|lysosomal membrane ATP binding|antiporter activity|voltage-gated chloride channel activity breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2) 24 Hepatocellular(780;0.0893) GATCACACCGGACACTTTGAT 0.607000 36 12 0 0 0.000422831 0 0 CHRNA1 1134 broad.mit.edu 37 2 175613332 175613332 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:175613332C>T uc002ujd.2 - 8 1371 c.1293G>A c.(1291-1293)atG>atA p.M431I BC046497_uc002uiw.3_Intron|CHRNA1_uc002uje.2_Missense_Mutation_p.M406I NM_001039523 NP_001034612 P02708 ACHA_HUMAN Homo sapiens cholinergic receptor, nicotinic, alpha 1 (muscle) (CHRNA1), transcript variant 1, mRNA. 431 muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4) 37 GGTCTGACTTCATGGTCTCTG 0.507000 OREG0015079 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 39 22 0 0 0.00152264 0 0 LRG1 116844 broad.mit.edu 37 19 4538062 4538062 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:4538062G>A uc002mau.3 - 1 945 c.934C>T c.(934-936)Cgt>Tgt p.R312C PLIN5_uc002mas.3_5'Flank|PLIN5_uc002mat.1_Intron NM_052972 NP_443204 P02750 A2GL_HUMAN Homo sapiens leucine-rich alpha-2-glycoprotein 1 (LRG1), mRNA. 312 LRRCT. extracellular region|membrane NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 13 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) TGAAGCCAACGATAGAGGTCG 0.592000 13 32 0 0 0.00209593 0 0 ACTR5 79913 broad.mit.edu 37 20 37400315 37400315 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr20:37400315G>A uc002xjd.2 + 8 1705 c.1680G>A c.(1678-1680)aaG>aaA p.K560K NM_024855 NP_079131 Q9H9F9 ARP5_HUMAN Homo sapiens ARP5 actin-related protein 5 homolog (yeast) (ACTR5), mRNA. 560 DNA recombination|UV-damage excision repair|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex|cytoplasm ATP binding|protein binding kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2) 12 Myeloproliferative disorder(115;0.00878) ATGAAGAAAAGGGAGGAGAGT 0.552000 35 21 0 0 0.00106085 0 0 MAGEA6 4105 broad.mit.edu 37 X 151869567 151869567 + Missense_Mutation SNP A G G TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chrX:151869567A>G uc022chf.1 + 0 257 c.257A>G c.(256-258)gAc>gGc p.D86G MAGEA6_uc004ffq.1_Missense_Mutation_p.D86G|MAGEA6_uc004ffr.1_Missense_Mutation_p.D86G NM_175868 NP_787064 P43360 MAGA6_HUMAN Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA. 86 protein binding breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) TCCTATGAGGACTCCAGCAAC 0.572000 8 29 0 0 0.000953801 0 0 ADAP2 55803 broad.mit.edu 37 17 29272027 29272027 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr17:29272027G>A uc010csk.3 + 5 910 c.631G>A c.(631-633)Gat>Aat p.D211N ADAP2_uc002hfy.3_Missense_Mutation_p.D205N|ADAP2_uc010csl.3_Non-coding_Transcript|ADAP2_uc002hfx.3_Missense_Mutation_p.D205N NM_018404 NP_060874 Q9NPF8 ADAP2_HUMAN Homo sapiens ArfGAP with dual PH domains 2 (ADAP2), mRNA. 205 PH 1. heart development|regulation of ARF GTPase activity mitochondrial envelope|plasma membrane ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding p.?(1) breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 13 CTACAGGAGAGATGGCCACAC 0.547000 11 15 0 0 0.000422831 0 0 CRTC1 23373 broad.mit.edu 37 19 18870915 18870915 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:18870915C>T uc010ebv.3 + 8 899 c.811C>T c.(811-813)Ccc>Tcc p.P271S CRTC1_uc002nkb.4_Missense_Mutation_p.P255S|CRTC1_uc010ebw.3_Missense_Mutation_p.P120S NM_001098482 NP_001091952 Q6UUV9 CRTC1_HUMAN Homo sapiens CREB regulated transcription coactivator 1 (CRTC1), transcript variant 3, mRNA. 255 interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane cAMP response element binding protein binding|protein binding CRTC1/MAML2(516) NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 19 CATCCACTTCCCCTCCCCGCT 0.672000 4 20 0 0 0.00188189 0 0 MED12L 116931 broad.mit.edu 37 3 150877779 150877779 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:150877779G>A uc003eyp.3 + 6 1127 c.998G>A c.(997-999)aGc>aAc p.S333N MED12L_uc011bnz.2_Intron|MED12L_uc003eyn.3_Missense_Mutation_p.S333N|MED12L_uc003eyo.3_Missense_Mutation_p.S333N NM_053002 NP_443728 Q86YW9 MD12L_HUMAN Homo sapiens mediator complex subunit 12-like (MED12L), mRNA. 333 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GGGGCCCCCAGCCCTGGCCCC 0.597000 68 22 0 0 0.00229938 0 0 OR2Z1 284383 broad.mit.edu 37 19 8841502 8841502 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:8841502G>A uc010xkg.2 + 0 112 c.112G>A c.(112-114)Ggc>Agc p.G38S NM_001004699 NP_001004699 Q8NG97 OR2Z1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA. 38 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GTTTGTCATAGGCCTTCTGGG 0.547000 14 24 0 0 0.000586117 0 0 NARFL 64428 broad.mit.edu 37 16 780930 780930 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr16:780930C>T uc002cjr.3 - 9 1117 c.1105G>A c.(1105-1107)Ggc>Agc p.G369S NARFL_uc002cjp.3_Missense_Mutation_p.G267S|NARFL_uc002cjq.3_Missense_Mutation_p.G267S|NARFL_uc021tab.1_Non-coding_Transcript NM_022493 NP_071938 Q9H6Q4 NARFL_HUMAN Homo sapiens nuclear prelamin A recognition factor-like (NARFL), mRNA. 369 iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia 4 iron, 4 sulfur cluster binding|metal ion binding autonomic_ganglia(1)|large_intestine(1)|lung(7) 9 Hepatocellular(780;0.0218) TTGCGGAAGCCGTACGCCATT 0.607000 45 21 0 0 0.00229938 0 0 HYDIN 54768 broad.mit.edu 37 16 70954536 70954536 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr16:70954536C>T uc002ezr.3 - 45 7891 c.7740G>A c.(7738-7740)tgG>tgA p.W2580* NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 2581 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) GGGCCTGCTTCCAGCTCAAGC 0.587000 9 8 0 0 0.000442599 0 0 VWA3B 200403 broad.mit.edu 37 2 98804458 98804458 + Silent SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:98804458C>T uc002syo.3 + 9 1596 c.1332C>T c.(1330-1332)gtC>gtT p.V444V VWA3B_uc010yvh.2_Silent_p.V294V|VWA3B_uc002syj.3_Non-coding_Transcript|VWA3B_uc002syk.1_Intron|VWA3B_uc002syl.1_Intron|VWA3B_uc002sym.3_Silent_p.V444V|VWA3B_uc002syn.1_Intron|VWA3B_uc010yvi.1_Silent_p.V101V NM_144992 NP_659429 Q502W6 VWA3B_HUMAN Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA. 444 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 AGAAGACAGTCCATGCAAAAT 0.483000 23 26 0 0 0.000586117 0 0 DNAH11 8701 broad.mit.edu 37 7 21827122 21827122 + Missense_Mutation SNP A T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:21827122A>T uc003svc.3 + 60 9897 c.9866A>T c.(9865-9867)aAt>aTt p.N3289I NM_003777 NP_003768 Q96DT5 DYH11_HUMAN Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA. 3289 Stalk (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 CCAGAGTTTAATCCAAACCTG 0.373000 Kartagener syndrome 39 29 0 0 0.000878237 0 0 FLG 2312 broad.mit.edu 37 1 152282710 152282710 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:152282710C>T uc001ezu.1 - 2 4688 c.4652G>A c.(4651-4653)gGa>gAa p.G1551E NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 1551 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGAGCCGTCTCCTGATTGTTC 0.597000 Ichthyosis 155 56 0 0 0.000781405 0 0 SLC30A8 169026 broad.mit.edu 37 8 118175718 118175718 + Missense_Mutation SNP T G G TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:118175718T>G uc003yoh.3 + 5 1008 c.778T>G c.(778-780)Ttg>Gtg p.L260V SLC30A8_uc010mcz.3_Missense_Mutation_p.L211V|SLC30A8_uc003yog.3_Missense_Mutation_p.L211V|SLC30A8_uc011lia.2_Missense_Mutation_p.L211V|SLC30A8_uc022bab.1_Missense_Mutation_p.L211V|Metazoa_SRP_uc022bac.1_5'Flank NM_173851 NP_001166286 Q8IWU4 ZNT8_HUMAN Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA. 260 insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5) 41 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) CATCCTGGTCTTGGCCAGCAC 0.403000 469 38 0 0 0.000781405 0 0 SMOC1 64093 broad.mit.edu 37 14 70461195 70461195 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr14:70461195C>T uc001xlt.2 + 6 944 c.662C>T c.(661-663)tCa>tTa p.S221L SMOC1_uc001xls.2_Missense_Mutation_p.S221L NM_001034852 NP_001030024 Q9H4F8 SMOC1_HUMAN Homo sapiens SPARC related modular calcium binding 1 (SMOC1), transcript variant 1, mRNA. 221 cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction basement membrane calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028) ATAAGAAATTCAGGTAAATAA 0.413000 67 7 0 0 0.000157383 0 0 TSNAXIP1 55815 broad.mit.edu 37 16 67854848 67854848 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr16:67854848G>A uc010vka.2 + 2 330 c.254G>A c.(253-255)cGa>cAa p.R85Q TSNAXIP1_uc010cep.2_5'UTR|TSNAXIP1_uc010vjz.1_Intron|TSNAXIP1_uc002euf.4_Intron|TSNAXIP1_uc010vkb.2_Intron|TSNAXIP1_uc002eug.4_Intron|TSNAXIP1_uc002euh.4_Intron|TSNAXIP1_uc002eui.4_Intron|TSNAXIP1_uc002euj.3_Missense_Mutation_p.R31Q|TSNAXIP1_uc002euk.3_5'Flank NM_018430 NP_060900 Q2TAA8 TXIP1_HUMAN Homo sapiens translin-associated factor X interacting protein 1 (TSNAXIP1), mRNA. 31 cell differentiation|multicellular organismal development|spermatogenesis perinuclear region of cytoplasm p.R31L(2) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1) 22 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125) TACCGGAAGCGAGTAGGGTAA 0.597000 54 26 0 0 0.00127121 0 0 ACADS 35 broad.mit.edu 37 12 121176354 121176354 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:121176354C>T uc001tza.4 + 6 932 c.814C>T c.(814-816)Cgc>Tgc p.R272C ACADS_uc010szl.1_Missense_Mutation_p.R268C NM_000017 NP_000008 P16219 ACADS_HUMAN Homo sapiens acyl-CoA dehydrogenase, C-2 to C-3 short chain (ACADS), nuclear gene encoding mitochondrial protein, mRNA. 272 Substrate binding. mitochondrial matrix butyryl-CoA dehydrogenase activity central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3) 14 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) Lung NSC(355;0.163) NADH(DB00157) GGACATGGGCCGCATCGGCAT 0.706000 35 94 0 0 0.000781405 0 0 MCPH1 79648 broad.mit.edu 37 8 6302358 6302358 + Missense_Mutation SNP A G G TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:6302358A>G uc003wqi.3 + 7 1191 c.1115A>G c.(1114-1116)aAg>aGg p.K372R MCPH1_uc003wqh.3_Missense_Mutation_p.K372R|MCPH1_uc011kwl.2_Missense_Mutation_p.K324R NM_024596 NP_078872 Q8NEM0 MCPH1_HUMAN Homo sapiens microcephalin 1 (MCPH1), transcript variant 1, mRNA. 372 microtubule organizing center AGPAT5/MCPH1(2) central_nervous_system(1)|large_intestine(4)|skin(1) 6 Hepatocellular(245;0.0663) Colorectal(4;0.0505) GAAAAATGCAAGAGAAAGAGG 0.522000 37 7 0 0 0.00198382 0 0 MUC5B 727897 broad.mit.edu 37 11 1252739 1252739 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:1252739C>T uc001lta.3 + 13 1686 c.1627C>T c.(1627-1629)Ctc>Ttc p.L543F MUC5B_uc021qbr.1_Intron|MUC5B_uc009yct.2_Missense_Mutation_p.L543F NM_002458 NP_002449 Q9HC84 MUC5B_HUMAN Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA. 543 VWFD 2. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GCTGGTGCCACTCATGCAGGT 0.667000 5 3 0 0 6.4e-05 0 0 XIRP2 129446 broad.mit.edu 37 2 167992518 167992518 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:167992518G>A uc002udx.3 + 2 597 c.508G>A c.(508-510)Gaa>Aaa p.E170K XIRP2_uc010fpn.3_Missense_Mutation_p.E170K|XIRP2_uc010fpo.3_Missense_Mutation_p.E170K|XIRP2_uc002udy.3_5'UTR NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 0 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GAAAGGCAAGGAAACATCTTT 0.438000 48 24 0 0 0.000586117 0 0 XRCC1 7515 broad.mit.edu 37 19 44047642 44047642 + Missense_Mutation SNP G A A rs137950555 TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:44047642G>A uc002owt.2 - 16 1924 c.1804C>T c.(1804-1806)Ccc>Tcc p.P602S XRCC1_uc010xwp.1_Missense_Mutation_p.P571S NM_006297 NP_006288 P18887 XRCC1_HUMAN Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 1 (XRCC1), mRNA. 602 BRCT 2. base-excision repair|single strand break repair nucleoplasm damaged DNA binding|protein binding breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Prostate(69;0.0153) GCCAGGGAGGGGTTGTCCATC 0.582000 Other BER factors 47 25 0 0 0.00106085 0 0 PRSS38 339501 broad.mit.edu 37 1 228004911 228004911 + Splice_Site SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:228004911G>A uc001hrh.3 + 3 312 c.312_splice c.e3-1 p.R104_splice NM_183062 NP_898885 A1L453 PRS38_HUMAN Homo sapiens protease, serine, 38 (PRSS38), mRNA. 104 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 CCCCCACAGGGACAAGAATAT 0.577000 32 14 0 0 0.000308642 0 0 ZBTB32 27033 broad.mit.edu 37 19 36205768 36205768 + Silent SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr19:36205768G>A uc002oay.3 + 1 450 c.240G>A c.(238-240)ggG>ggA p.G80G ZBTB32_uc002oaz.3_Non-coding_Transcript NM_014383 NP_055198 Q9Y2Y4 ZBT32_HUMAN Homo sapiens zinc finger and BTB domain containing 32 (ZBTB32), mRNA. 80 BTB. DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleoplasm DNA binding|protein binding|transcription corepressor activity|zinc ion binding large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 14 all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TTGTGTATGGGGAGAGTGTAG 0.632000 62 22 0 0 0.000720815 0 0 CCDC60 160777 broad.mit.edu 37 12 119961610 119961610 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:119961610G>A uc001txe.3 + 10 1681 c.1216G>A c.(1216-1218)Gaa>Aaa p.E406K AF086288_uc001txf.3_Intron NM_178499 NP_848594 Q8IWA6 CCD60_HUMAN Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA. 406 endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) GGACAAGATGGAAATCCTCAT 0.493000 8 26 0 0 0.000720815 0 0 FAM83C 128876 broad.mit.edu 37 20 33876313 33876313 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr20:33876313C>T uc021wck.1 - 2 875 c.757G>A c.(757-759)Gag>Aag p.E253K FAM83C_uc002xcb.1_Missense_Mutation_p.E77K NM_178468 NP_848563 Q9BQN1 FA83C_HUMAN Homo sapiens family with sequence similarity 83, member C (FAM83C), mRNA. 253 p.E253K(2) central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(18;0.00252) ACGAACTTCTCCAGGGCCTGC 0.632000 30 17 0 0 0.00121646 0 0 CSMD1 64478 broad.mit.edu 37 8 2836242 2836242 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr8:2836242C>T uc022aqr.1 - 54 8848 c.8458G>A c.(8458-8460)Gga>Aga p.G2820R CSMD1_uc011kwj.2_Missense_Mutation_p.G2150R|CSMD1_uc010lrg.3_Missense_Mutation_p.G831R NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 2821 Sushi 20. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) ATACTCATTCCATACTCAAAA 0.448000 16 5 0 0 0.000602214 0 0 SOX10 6663 broad.mit.edu 37 22 38379572 38379572 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr22:38379572C>T uc003aun.1 - 1 498 c.220G>A c.(220-222)Gag>Aag p.E74K AK098727_uc003aum.3_Intron|SOX10_uc003auo.1_Missense_Mutation_p.E74K|SOX10_uc010gxj.3_Missense_Mutation_p.E74K|AK098727_uc003aup.3_5'Flank NM_006941 NP_008872 P56693 SOX10_HUMAN Homo sapiens SRY (sex determining region Y)-box 10 (SOX10), mRNA. 74 cytoplasm|nucleus DNA binding|identical protein binding|transcription coactivator activity NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2) 20 Melanoma(58;0.045) CTGACGGCCTCGCGGATGCAC 0.697000 6 4 0 0 0.000602214 0 0 PPM1L 151742 broad.mit.edu 37 3 160474204 160474204 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:160474204G>A uc003fdr.3 + 0 209 c.108G>A c.(106-108)tgG>tgA p.W36* NM_139245 NP_640338 Q5SGD2 PPM1L_HUMAN Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1L (PPM1L), mRNA. 36 protein dephosphorylation|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) TGGCTCTATGGAGTTACTTCT 0.542000 51 10 0 0 0.000442599 0 0 USP16 10600 broad.mit.edu 37 21 30409680 30409680 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr21:30409680G>A uc002ymy.3 + 5 734 c.532G>A c.(532-534)Gaa>Aaa p.E178K USP16_uc002ymx.3_Missense_Mutation_p.E177K|USP16_uc002ymw.3_Missense_Mutation_p.E178K|USP16_uc011acm.2_Missense_Mutation_p.E163K|USP16_uc011acn.2_Intron|USP16_uc011aco.2_5'Flank NM_006447 NP_006438 Q9Y5T5 UBP16_HUMAN Homo sapiens ubiquitin specific peptidase 16 (USP16), transcript variant 1, mRNA. 178 cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding p.K177E(1) breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2) 34 AGAAAAGAAGGAAAACATGGC 0.318000 27 24 0 0 0.00047179 0 0 PRSS1 5644 broad.mit.edu 37 7 142458429 142458429 + Missense_Mutation SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr7:142458429G>A uc003wak.2 + 1 81 c.64G>A c.(64-66)Gac>Aac p.D22N TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_Intron|PRSS1_uc003wam.2_5'Flank NM_002769 NP_002760 P07477 TRY1_HUMAN Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA. 22 D -> G (in PCTT; increased rate of activation). digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) TGATGATGATGACAAGATCGT 0.532000 136 19 0 0 0.000878237 0 0 MSH5 4439 broad.mit.edu 37 6 31708975 31708975 + Missense_Mutation SNP G T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr6:31708975G>T uc003nwu.2 + 2 311 c.183G>T c.(181-183)ttG>ttT p.L61F MSH5_uc003nwx.2_Missense_Mutation_p.L61F|MSH5_uc003nwv.2_Missense_Mutation_p.L61F|MSH5_uc003nww.2_Missense_Mutation_p.L61F NM_172165 NP_751897 O43196 MSH5_HUMAN Homo sapiens mutS homolog 5 (E. coli) (MSH5), transcript variant 2, mRNA. 61 chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding p.L61F(2) breast(1)|ovary(2)|skin(2) 5 CAGGATACTTGGGCATTGCCT 0.473000 Direct reversal of damage;Mismatch excision repair (MMR) 324 10 0.000442599 0.00176099 0.000442599 1 0 HYDIN 54768 broad.mit.edu 37 16 70841964 70841964 + Splice_Site SNP G A A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr16:70841964G>A uc002ezr.3 - 86 15032 c.14881_splice c.e86-1 p.T4961_splice HYDIN_uc010cfy.3_Splice_Site NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 4962 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TGTACAGTCGGTCTGAAAGGG 0.542000 45 16 0 0 0.00121646 0 0 GSPT2 23708 broad.mit.edu 37 X 51488475 51488475 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chrX:51488475C>T uc004dpl.3 + 0 1995 c.1753C>T c.(1753-1755)Cgt>Tgt p.R585C NM_018094 NP_060564 Q8IYD1 ERF3B_HUMAN Homo sapiens G1 to S phase transition 2 (GSPT2), mRNA. 585 cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination cytoplasm GTP binding|GTPase activity|protein binding breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 20 Ovarian(276;0.236) ATGCATTGCTCGTTTAAGGAC 0.423000 9 28 0 0 0.00209593 0 0 POGLUT1 56983 broad.mit.edu 37 3 119190197 119190197 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr3:119190197C>T uc003ecm.3 + 2 302 c.218C>T c.(217-219)tCc>tTc p.S73F POGLUT1_uc011biz.1_Non-coding_Transcript|POGLUT1_uc011bja.2_5'UTR NM_152305 NP_689518 Q8NBL1 PGLT1_HUMAN Homo sapiens protein O-glucosyltransferase 1 (POGLUT1), transcript variant 1, mRNA. 73 endoplasmic reticulum lumen UDP-glucosyltransferase activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1) 16 GGAGGCATCTCCAGGAAGATG 0.502000 75 47 0 0 0.000781405 0 0 LGSN 51557 broad.mit.edu 37 6 63991013 63991013 + Missense_Mutation SNP A G G TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr6:63991013A>G uc003peh.3 - 3 477 c.443T>C c.(442-444)gTc>gCc p.V148A LGSN_uc003pei.3_Missense_Mutation_p.V148A NM_016571 NP_057655 Q5TDP6 LGSN_HUMAN Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA. 148 glutamine biosynthetic process glutamate-ammonia ligase activity NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 L-Glutamic Acid(DB00142) TGGCATTAGGACTATGTCGCT 0.418000 89 7 0 0 0.00198382 0 0 SCN1A 6323 broad.mit.edu 37 2 166895947 166895947 + Missense_Mutation SNP G A A rs121918784 TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr2:166895947G>A uc002udo.4 - 15 2802 c.2575C>T c.(2575-2577)Cgt>Tgt p.R859C SCN1A_uc010fpk.3_Missense_Mutation_p.R831C|SCN1A_uc021vsb.1_Missense_Mutation_p.R848C NM_001202435 NP_001189364 P35498 SCN1A_HUMAN Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA. 859 R -> C (in GEFS+2; causes a positive shift in the voltage dependence of channel activation, slower recovery from slow inactivation and lower levels of current compared with the wild-type channel; dbSNP:rs121918784). 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) CGAAATGAACGGAGAACAGAT 0.363000 27 12 0 0 0.00244969 0 0 RYR2 6262 broad.mit.edu 37 1 237850796 237850796 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:237850796C>T uc001hyl.1 + 62 9179 c.9059C>T c.(9058-9060)tCa>tTa p.S3020L RYR2_uc010pxz.1_Intron NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 3020 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CATAGGATTTCACTATTTGGT 0.413000 20 5 0 0 0.00116845 0 0 OLFML1 283298 broad.mit.edu 37 11 7530732 7530733 + Missense_Mutation DNP GG AA AA TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr11:7530732_7530733GG>AA uc001mfi.3 + 2 1029_1030 c.522_523GG>AA c.(520-525)aaggtg>aaAAtg p.V175M OLFML1_uc010raz.2_Missense_Mutation_p.V39M|OLFML1_uc010rba.2_Missense_Mutation_p.V175M NM_198474 NP_940876 Q6UWY5 OLFL1_HUMAN Homo sapiens olfactomedin-like 1 (OLFML1), mRNA. 175 Olfactomedin-like. extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2) 24 Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) ACTCTCCAAAGGTGTACTTATT 0.421000 56 25 0 0 6.4e-05 0 0 DRGX 644168 broad.mit.edu 37 10 50594844 50594844 + Missense_Mutation SNP C T T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr10:50594844C>T uc010qgq.2 - 3 310 c.310G>A c.(310-312)Gag>Aag p.E104K DRGX_uc021pqd.1_Missense_Mutation_p.E99K NM_001080520 NP_001073989 C9JW76 C9JW76_HUMAN Homo sapiens dorsal root ganglia homeobox (DRGX), mRNA. 104 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5) 11 GCTCCTGGCTCCTGGTCTGAG 0.562000 32 43 0 0 0.000781405 0 0 NOTCH2 4853 broad.mit.edu 37 1 120612003 120612004 + Frame_Shift_Del DEL GG - - TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr1:120612003_120612004delGG uc001eik.3 - 0 314_315 c.17_18delCC c.(16-18)cccfs p.P6fs NOTCH2_uc001eil.3_Frame_Shift_Del_p.P6fs|NOTCH2_uc001eim.4_5'UTR NM_024408 NP_077719 Q04721 NOTC2_HUMAN Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA. 6 Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity p.P6fs*27(4) breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) ACAGCAGAGCGGGGCGCAGGGC 0.762 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome --- 35 --- --- 9 --- R3HDM2 22864 broad.mit.edu 37 12 57663166 57663167 + Frame_Shift_Del DEL GA - - TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a88ce52-7543-40bc-9e8f-3341a4a1df15 b5103c25-5000-4999-a2da-99e0276b9428 g.chr12:57663166_57663167delGA uc009zpm.1 - 13 1646_1647 c.1611_1612delTC c.(1609-1614)tctcacfs p.S537fs R3HDM2_uc010srn.1_Non-coding_Transcript|R3HDM2_uc001snu.2_Frame_Shift_Del_p.S232fs|R3HDM2_uc001snr.2_Frame_Shift_Del_p.S264fs|R3HDM2_uc001sns.2_Frame_Shift_Del_p.S537fs|R3HDM2_uc001snt.2_Frame_Shift_Del_p.S551fs NM_014925 NP_055740 Q9Y2K5 R3HD2_HUMAN Homo sapiens R3H domain containing 2 (R3HDM2), mRNA. 537 Gln-rich. nucleus nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 22 GCCACCGGGTGAGAGAGAGGTC 0.525 --- 32 --- --- 26 ---