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 ANXA10 11199 broad.mit.edu 37 4 169099096 169099096 + Missense_Mutation SNP T G G TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr4:169099096T>G uc003irm.3 + 7 754 c.590T>G c.(589-591)aTg>aGg p.M197R ANXA10_uc003irn.3_Missense_Mutation_p.M69R NM_007193 NP_009124 Q9UJ72 ANX10_HUMAN Homo sapiens annexin A10 (ANXA10), mRNA. 197 calcium ion binding|calcium-dependent phospholipid binding endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2) 16 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0325) ATGCTGCAAATGATCCTGTGC 0.483000 42 15 0 0 0.004990 0 0 TTN 7273 broad.mit.edu 37 2 179576684 179576684 + Silent SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr2:179576684G>A uc021vsy.1 - 92 24366 c.24141C>T c.(24139-24141)ttC>ttT p.F8047F TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.F4708F NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 8974 Ig-like 63. 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) GAACGGTAAGGAAAGTTGATG 0.353000 62 15 0 0 0.004990 0 0 ACSL5 51703 broad.mit.edu 37 10 114169401 114169401 + Silent SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr10:114169401G>A uc001kzu.3 + 6 949 c.837G>A c.(835-837)ggG>ggA p.G279G ACSL5_uc001kzs.3_Silent_p.G223G|ACSL5_uc001kzt.3_Silent_p.G223G|ACSL5_uc009xxz.3_Silent_p.G223G|ACSL5_uc010qrj.2_5'UTR NM_016234 NP_976314 Q9ULC5 ACSL5_HUMAN Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA. 223 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1) 21 Colorectal(252;0.117)|Breast(234;0.222) Epithelial(162;0.0343)|all cancers(201;0.137) AGCAAAGAGGGGAGAAGAGTG 0.468000 75 20 0 0 0.001882 0 0 GRM3 2913 broad.mit.edu 37 7 86394322 86394322 + Splice_Site SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr7:86394322G>A uc003uid.3 + 2 960 c.-139_splice c.e2-1 GRM3_uc010lef.3_Splice_Site|GRM3_uc010leg.3_Intron|GRM3_uc010leh.3_Intron NM_000840 NP_000831 Q14832 GRM3_HUMAN Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA. synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) ATCTCTTTAGGAATTTTGTGA 0.388000 20 5 0 0 0.000602 0 0 CCDC73 493860 broad.mit.edu 37 11 32635092 32635092 + Silent SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr11:32635092C>T uc001mtv.3 - 15 2816 c.2772G>A c.(2770-2772)tcG>tcA p.S924S NM_001008391 NP_001008392 Q6ZRK6 CCD73_HUMAN Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA. 924 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 51 Breast(20;0.112) TGCAAGGGGTCGAACTGCTCG 0.383000 67 21 0 0 0.008871 0 0 ALOX12 239 broad.mit.edu 37 17 6913326 6913326 + Missense_Mutation SNP C A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr17:6913326C>A uc002gdx.4 + 12 1746 c.1693C>A c.(1693-1695)Cca>Aca p.P565T LOC100506713_uc021tou.1_Intron|LOC100506713_uc002gdy.2_Intron|ALOX12_uc002gdz.4_Missense_Mutation_p.P35T|RNASEK_uc021tow.1_5'Flank|RNASEK_uc002gea.3_5'Flank|C17orf49_uc002gec.3_5'Flank NM_000697 NP_000688 P18054 LOX12_HUMAN Homo sapiens arachidonate 12-lipoxygenase (ALOX12), mRNA. 565 Lipoxygenase. anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation cytosol|sarcolemma arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1) 19 GCGGATGCCCCCACCCACCAC 0.547000 30 14 1.49906e-05 2.54718e-05 0.002450 1 0 MYH2 4620 broad.mit.edu 37 17 10446476 10446476 + Silent SNP A T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr17:10446476A>T uc010coi.3 - 8 872 c.744T>A c.(742-744)ggT>ggA p.G248G AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.G248G|MYH2_uc010coj.3_Silent_p.G248G NM_001100112 NP_060004 Q9UKX2 MYH2_HUMAN Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA. 248 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 TGATGAATTTACCCTTGAAAT 0.274000 78 23 0 0 0.004656 0 0 LUM 4060 broad.mit.edu 37 12 91502687 91502687 + Missense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr12:91502687C>T uc001tbm.3 - 1 459 c.70G>A c.(70-72)Gat>Aat p.D24N NM_002345 NP_002336 P51884 LUM_HUMAN Homo sapiens lumican (LUM), mRNA. 24 collagen fibril organization|visual perception extracellular space|fibrillar collagen collagen binding|extracellular matrix structural constituent central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24 AGGGGAAAATCATAATCATAG 0.413000 20 8 0 0 0.004482 0 0 C5orf42 65250 broad.mit.edu 37 5 37196077 37196077 + Missense_Mutation SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr5:37196077G>A uc011cpa.1 - 20 3925 c.3694C>T c.(3694-3696)Cct>Tct p.P1232S C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.P307S|C5orf42_uc011cpb.1_Missense_Mutation_p.P113S NM_023073 NP_075561 E9PH94 E9PH94_HUMAN Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA. 1232 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) CTCAGTGAAGGAAGGGATCCT 0.358000 36 7 0 0 0.003080 0 0 GRM4 2914 broad.mit.edu 37 6 34004036 34004036 + Silent SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr6:34004036G>A uc003oir.4 - 7 2214 c.1851C>T c.(1849-1851)atC>atT p.I617I GRM4_uc011dsn.2_Silent_p.I570I|GRM4_uc010jvh.3_Silent_p.I617I|GRM4_uc010jvi.3_Silent_p.I309I|GRM4_uc003oio.3_Silent_p.I309I|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Silent_p.I477I|GRM4_uc003oiq.3_Silent_p.I484I|GRM4_uc011dsm.2_Silent_p.I448I NM_000841 NP_000832 Q14833 GRM4_HUMAN Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA. 617 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) AGGCCTTGACGATGGGCGTGT 0.632000 23 9 0 0 0.004482 0 0 ZSCAN12 9753 broad.mit.edu 37 6 28365849 28365849 + Missense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr6:28365849C>T uc011dlh.2 - 1 513 c.334G>A c.(334-336)Gag>Aag p.E112K ZSCAN12_uc010jre.3_Non-coding_Transcript NM_001163391 NP_001156863 Homo sapiens zinc finger and SCAN domain containing 12 (ZSCAN12), transcript variant 1, mRNA. breast(2)|endometrium(3)|urinary_tract(1) 6 TCCCCACTCTCTGGATGCTGC 0.542000 20 7 0 0 0.004482 0 0 SERPINB12 89777 broad.mit.edu 37 18 61228356 61228356 + Silent SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr18:61228356G>A uc010xeo.2 + 3 483 c.483G>A c.(481-483)acG>acA p.T161T SERPINB12_uc010xen.2_Silent_p.T141T NM_080474 NP_536722 Q96P63 SPB12_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA. 141 negative regulation of protein catabolic process|regulation of proteolysis cytoplasm enzyme binding|serine-type endopeptidase inhibitor activity p.T141T(1) kidney(1)|large_intestine(5)|lung(19)|skin(1) 26 ACCACACGACGATTGAAAGTG 0.383000 62 12 0 0 0.001368 0 0 FCRL5 83416 broad.mit.edu 37 1 157516930 157516930 + Missense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr1:157516930C>T uc009wsm.3 - 2 268 c.110G>A c.(109-111)gGa>gAa p.G37E FCRL5_uc001fqu.3_Missense_Mutation_p.G37E|FCRL5_uc010phv.1_Missense_Mutation_p.G37E|FCRL5_uc010phw.1_Intron|FCRL5_uc001fqv.1_Missense_Mutation_p.G37E|FCRL5_uc010phx.2_5'UTR NM_001195388 NP_001182317 Q96RD9 FCRL5_HUMAN Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA. 37 Ig-like C2-type 1. integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) CACTCTCTCTCCTTGGAAGAC 0.498000 80 26 0 0 0.006320 0 0 MSX2 4488 broad.mit.edu 37 5 174156265 174156265 + Silent SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr5:174156265C>T uc003mcy.3 + 1 571 c.483C>T c.(481-483)ttC>ttT p.F161F NM_002449 NP_002440 P35548 MSX2_HUMAN Homo sapiens msh homeobox 2 (MSX2), mRNA. 161 cranial suture morphogenesis|negative regulation of transcription, DNA-dependent|osteoblast differentiation cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding p.K160T(1) breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1) 10 Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303) 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;0.000183) AGCGCAAGTTCCGTCAGAAAC 0.562000 31 7 0 0 0.001984 0 0 NLRC4 58484 broad.mit.edu 37 2 32475148 32475148 + Missense_Mutation SNP T A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr2:32475148T>A uc002roi.3 - 3 2046 c.1785A>T c.(1783-1785)ttA>ttT p.L595F NLRC4_uc021vfq.1_Missense_Mutation_p.L595F|NLRC4_uc002roj.2_Missense_Mutation_p.L595F|NLRC4_uc010ezt.2_Intron NM_001199138 NP_001186067 Q9NPP4 NLRC4_HUMAN Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA. 595 activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) AGAAGTCAAATAAGTAATCGG 0.418000 77 21 0 0 0.008871 0 0 RPL27 6155 broad.mit.edu 37 17 41151974 41151974 + Missense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr17:41151974C>T uc002icj.3 + 2 151 c.106C>T c.(106-108)Cgc>Tgc p.R36C NM_000988 NP_000979 P61353 RL27_HUMAN Homo sapiens ribosomal protein L27 (RPL27), mRNA. 36 KOW. endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|ribosome structural constituent of ribosome cervix(1)|endometrium(1)|kidney(1) 3 Breast(137;0.000717)|Ovarian(249;0.0776) BRCA - Breast invasive adenocarcinoma(366;0.157) CACCTCAGATCGCCCCTACAG 0.478000 52 10 0 0 0.001368 0 0 TBXAS1 6916 broad.mit.edu 37 7 139661812 139661812 + Missense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr7:139661812C>T uc011kqv.2 + 9 1290 c.1055C>T c.(1054-1056)tCc>tTc p.S352F TBXAS1_uc003vvh.3_Missense_Mutation_p.S306F|TBXAS1_uc010lne.3_Missense_Mutation_p.S238F|TBXAS1_uc011kqu.2_Missense_Mutation_p.S257F|TBXAS1_uc003vvi.3_Missense_Mutation_p.S306F|TBXAS1_uc011kqw.2_Missense_Mutation_p.S286F|TBXAS1_uc003vvj.3_Missense_Mutation_p.S306F NM_001166253 NP_001159725 P24557 THAS_HUMAN Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 4, mRNA. 305 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Melanoma(164;0.0142) GACGTTTTCTCCTCTACTGGG 0.567000 41 8 0 0 0.003080 0 0 OR13C4 138804 broad.mit.edu 37 9 107288808 107288808 + Missense_Mutation SNP G A A rs139144967 TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr9:107288808G>A uc011lvn.2 - 0 683 c.683C>T c.(682-684)aCg>aTg p.T228M NM_001001919 NP_001001919 Q8NGS5 O13C4_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA. 228 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(2)|lung(14)|skin(1) 18 GGCCGAGTTCGTTCGCAAGAT 0.403000 81 24 0 0 0.005443 0 0 SLC30A10 55532 broad.mit.edu 37 1 220088945 220088945 + Missense_Mutation SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr1:220088945G>A uc001hlw.3 - 3 1515 c.1304C>T c.(1303-1305)cCc>cTc p.P435L RNU5F-1_uc021pjd.1_Intron|SLC30A10_uc001hlu.1_Intron|SLC30A10_uc001hlv.3_Missense_Mutation_p.P190L|SLC30A10_uc001hlx.3_Missense_Mutation_p.P210L NM_018713 NP_061183 Q6XR72 ZNT10_HUMAN Homo sapiens solute carrier family 30, member 10 (SLC30A10), mRNA. 435 zinc ion transport integral to membrane|plasma membrane cation transmembrane transporter activity NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1) 13 GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209) GTCTAGAGAGGGCCCACCATT 0.552000 49 16 0 0 0.004990 0 0 CTNNB1 1499 broad.mit.edu 37 3 41266124 41266124 + Missense_Mutation SNP A G G rs121913412 TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr3:41266124A>G uc010hia.1 + 3 277 c.121A>G c.(121-123)Acc>Gcc p.T41A CTNNB1_uc003ckq.2_Missense_Mutation_p.T41A|CTNNB1_uc003ckp.2_Missense_Mutation_p.T41A|CTNNB1_uc003ckr.2_Missense_Mutation_p.T41A|CTNNB1_uc011azf.1_Missense_Mutation_p.T34A|CTNNB1_uc011azg.1_Intron|AK311005_uc010hib.1_Non-coding_Transcript NM_001904 NP_001895 P35222 CTNB1_HUMAN Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA. 41 T -> A (in hepatoblastoma and hepatocellular carcinoma; also in a desmoid tumor; strongly reduces phosphorylation and degradation; abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes).|T -> I (in PTR, hepatocellular carcinoma and ovarian cancer). Schwann cell proliferation|T cell differentiation in thymus|adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of T cell proliferation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|Z disc|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|zonula adherens I-SMAD binding|R-SMAD binding|RPTP-like protein binding|alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|ion channel binding|protein C-terminus binding|protein binding|protein kinase binding|protein phosphatase binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding p.T41A(1172)|p.A5_A80del(119)|p.T41I(78)|p.A5_A80>D(14)|p.A5_Q143del(14)|p.T41P(13)|p.T40I(12)|p.Q28_H134del(10)|p.H24_S47del(9)|p.T41S(9)|p.T41N(7)|p.W25_I140del(7)|p.T3_A126del(4)|p.M5_N141>D(4)|p.D32_S47del(4)|p.A5_Y142>D(4)|p.?(4)|p.L10_N141del(4)|p.S37_G48>C(2)|p.Q28_Q61del(2)|p.A20_N141del(2)|p.D11_Y142>H(2)|p.Y30_A97del(2)|p.T40_L46del(2)|p.Q28_A43del(2)|p.E15_I140>V(2)|p.H24_M131del(2)|p.A13_R151del(2)|p.M1_A87del(2)|p.V22_T102del(2)|p.A21_A80del(2)|p.P16_K133del(2)|p.A39_T42del(2)|p.I35_K170del(2)|p.M14_S45del(2)|p.Q4_A80del(2)|p.V22_L139>V(2)|p.T41T(2)|p.V22_S71>A(2)|p.A20_A80del(2)|p.A5_T59del(2)|p.M1_V173del(2)|p.T40S(2)|p.T40T(2)|p.M8_A80del(2)|p.A5_Q143>E(2)|p.H36_E53>L(2)|p.Y30_A80del(2)|p.A5fs*7(2)|p.T41_N51del(2)|p.A5_T40del(2)|p.A5_E54del(2)|p.I35_T41del(2)|p.V22_Y64del(2)|p.A20_S111del(2)|p.D6_A43del(1)|p.E9_S47del(1)|p.A20_R151del(1)|p.D17_P128del(1)|p.L7_I140del(1)|p.G38_S45del(1)|p.M8_L132del(1)|p.K19_Y142>V(1)|p.A20_L148del(1)|p.V22_A80del(1)|p.V22_G80>NNNNN(1)|p.A20_Q143del(1)|p.S23_I140del(1)|p.Q4_D144del(1)|p.V22_A97del(1)|p.D6_I140del(1)|p.Q28_I140del(1)|p.E9_A80del(1)|p.M8_G50del(1)|p.A5_G80>(1)|p.A5_R90del(1)|p.W25_A80del(1)|p.T40A(1)|p.E9_I140del(1)|p.Y30_T40del(1)|p.M1_T42del(1)|p.A5_Q72del(1)|p.D6_K133del(1)|p.A5_T42del(1)|p.A5_D144>D(1)|p.D17_A126del(1)|p.Q4_Y142del(1)|p.5_142>(1)|p.A20_Q72del(1) CTNNB1/PLAG1(60) NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8) 3893 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) TGGTGCCACTACCACAGCTCC 0.507000 T41A(CCK81_LARGE_INTESTINE) 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 14 7 0 0 0.001984 0 0 STAB1 23166 broad.mit.edu 37 3 52550415 52550415 + Silent SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr3:52550415G>A uc003dej.3 + 38 4262 c.4188G>A c.(4186-4188)ggG>ggA p.G1396G STAB1_uc003dek.1_5'Flank NM_015136 NP_055951 Q9NY15 STAB1_HUMAN Homo sapiens stabilin 1 (STAB1), mRNA. 1396 cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) GGCTGCAAGGGGACGGAAGCT 0.632000 55 13 0 0 0.001855 0 0 TPSG1 25823 broad.mit.edu 37 16 1272234 1272234 + Missense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr16:1272234C>T uc002ckw.2 - 4 621 c.619G>A c.(619-621)Gac>Aac p.D207N NM_012467 NP_036599 Q9NRR2 TRYG1_HUMAN Homo sapiens tryptase gamma 1 (TPSG1), mRNA. 207 Peptidase S1. proteolysis integral to plasma membrane serine-type endopeptidase activity liver(1)|lung(2)|skin(1) 4 Hepatocellular(780;0.00369) CACAGCATGTCGGGCTGAAGG 0.711000 29 13 0 0 0.001368 0 0 PCDHB7 56129 broad.mit.edu 37 5 140553689 140553689 + Missense_Mutation SNP G A A rs147934905 TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr5:140553689G>A uc003lit.3 + 0 1447 c.1273G>A c.(1273-1275)Gac>Aac p.D425N NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN Homo sapiens protocadherin beta 7 (PCDHB7), mRNA. 425 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CACCGTCACCGACTTGGGGAC 0.517000 49 14 0 0 0.004990 0 0 PDE11A 50940 broad.mit.edu 37 2 178634094 178634094 + Missense_Mutation SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr2:178634094G>A uc002ulq.3 - 9 2063 c.1745C>T c.(1744-1746)tCa>tTa p.S582L PDE11A_uc002ulp.3_Missense_Mutation_p.S138L|PDE11A_uc002ulr.3_Missense_Mutation_p.S332L|PDE11A_uc002uls.1_Missense_Mutation_p.S224L|PDE11A_uc002ult.1_Missense_Mutation_p.S332L|PDE11A_uc002ulu.1_Missense_Mutation_p.S224L NM_016953 NP_001070664 Q9HCR9 PDE11_HUMAN Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA. 582 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) TGCATGGTATGATAGCACCTG 0.328000 Primary Pigmented Nodular Adrenocortical Disease, Familial 19 6 0 0 0.001168 0 0 C1orf106 55765 broad.mit.edu 37 1 200880917 200880917 + Silent SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr1:200880917C>T uc001gvo.3 + 8 1593 c.1551C>T c.(1549-1551)ttC>ttT p.F517F C1orf106_uc010ppm.2_Silent_p.F432F NM_018265 NP_001136041 Q3KP66 CA106_HUMAN Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA. 517 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 CTGGCTATTTCCCGGCGGGGC 0.731000 21 4 0 0 0.000602 0 0 APOBEC1 339 broad.mit.edu 37 12 7805350 7805350 + Silent SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr12:7805350G>A uc001qtb.3 - 2 160 c.126C>T c.(124-126)atC>atT p.I42I APOBEC1_uc001qtc.3_5'UTR NM_001644 NP_001635 P41238 ABEC1_HUMAN Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 (APOBEC1), mRNA. 42 DNA demethylation|cytidine to uridine editing|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing nucleoplasm RNA binding|cytidine deaminase activity|zinc ion binding p.E41K(1) kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1) 17 TGCCCCACTTGATTTCGTAGA 0.438000 34 7 0 0 0.003080 0 0 C18orf34 374864 broad.mit.edu 37 18 30795606 30795606 + Missense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr18:30795606C>T uc010xbr.1 - 17 2128 c.1986G>A c.(1984-1986)atG>atA p.M662I C18orf34_uc010dme.1_Missense_Mutation_p.M176I|C18orf34_uc002kxn.2_Missense_Mutation_p.M662I|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.M624I|C18orf34_uc002kxp.3_Missense_Mutation_p.M662I NM_001105528 NP_001098998 Q5BJE1 CR034_HUMAN Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA. 662 p.M624I(1)|p.M662I(1) NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2) 65 CATAAAAAATCATTGTCTTAC 0.254000 27 5 0 0 0.000602 0 0 OR5D13 390142 broad.mit.edu 37 11 55540935 55540935 + Nonsense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr11:55540935C>T uc010ril.2 + 0 22 c.22C>T c.(22-24)Caa>Taa p.Q8* NM_001001967 NP_001001967 Q8NGL4 OR5DD_HUMAN Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA. 8 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) TGAAAGAAATCAAAGCAGCAC 0.378000 60 15 0 0 0.003163 0 0 POSTN 10631 broad.mit.edu 37 13 38143519 38143519 + Splice_Site SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr13:38143519C>T uc001uwo.4 - 21 2466 c.2348_splice c.e21-1 p.E783_splice POSTN_uc010tet.2_Splice_Site_p.E284_splice|POSTN_uc001uwp.4_Splice_Site_p.E726_splice|POSTN_uc001uwr.3_Intron|POSTN_uc001uwq.3_Intron|POSTN_uc010teu.1_Splice_Site_p.E756_splice|POSTN_uc010tev.1_Splice_Site_p.E696_splice|POSTN_uc010tew.1_Intron NM_006475 NP_006466 Q15063 POSTN_HUMAN Homo sapiens periostin, osteoblast specific factor (POSTN), transcript variant 1, mRNA. 783 cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 59 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) CCTTGGTGACCTCTGAGAGGA 0.343000 29 4 0 0 0.000248 0 0 ITGB8 3696 broad.mit.edu 37 7 20445781 20445781 + Silent SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr7:20445781C>T uc003suu.3 + 11 2715 c.2010C>T c.(2008-2010)gtC>gtT p.V670V ITGB8_uc011jyh.2_Silent_p.V535V NM_002214 NP_002205 P26012 ITB8_HUMAN Homo sapiens integrin, beta 8 (ITGB8), mRNA. 670 cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1) 37 AGCATTATGTCGACCAAACTT 0.423000 27 23 0 0 0.002780 0 0 SYN3 8224 broad.mit.edu 37 22 33265034 33265034 + Silent SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr22:33265034C>T uc003amx.3 - 3 702 c.540G>A c.(538-540)ctG>ctA p.L180L SYN3_uc003amy.3_Silent_p.L180L|SYN3_uc003amz.3_Silent_p.L179L NM_003490 NP_003481 O14994 SYN3_HUMAN Homo sapiens synapsin III (SYN3), transcript variant IIIa, mRNA. 180 C; actin-binding and synaptic-vesicle binding. neurotransmitter secretion cell junction|synaptic vesicle membrane ATP binding|ligase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 GGCCGATGACCAGGCTGCGGT 0.587000 22 6 0 0 0.001984 0 0 PRUNE2 158471 broad.mit.edu 37 9 79318448 79318448 + Missense_Mutation SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr9:79318448G>A uc010mpk.3 - 8 8205 c.8081C>T c.(8080-8082)cCa>cTa p.P2694L PRUNE2_uc004akj.4_Missense_Mutation_p.P147L|PRUNE2_uc022big.1_Non-coding_Transcript|PRUNE2_uc010mpl.1_Missense_Mutation_p.P147L|PRUNE2_uc022bih.1_Missense_Mutation_p.P2516L NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA. 2694 G1 phase|apoptosis|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 TTGGCTGACTGGACCAGAGGC 0.537000 49 27 0 0 0.004656 0 0 MECOM 2122 broad.mit.edu 37 3 168834173 168834173 + Missense_Mutation SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr3:168834173G>A uc011bpj.1 - 7 1890 c.1487C>T c.(1486-1488)cCt>cTt p.P496L MECOM_uc010hwk.1_Missense_Mutation_p.P331L|MECOM_uc003ffj.3_Missense_Mutation_p.P373L|MECOM_uc003ffi.3_Missense_Mutation_p.P308L|MECOM_uc011bpi.1_Missense_Mutation_p.P309L|MECOM_uc003ffn.3_Missense_Mutation_p.P308L|MECOM_uc003ffk.2_Missense_Mutation_p.P308L|MECOM_uc003ffl.2_Missense_Mutation_p.P468L|MECOM_uc011bpk.1_Missense_Mutation_p.P308L|MECOM_uc010hwn.2_Missense_Mutation_p.P496L NM_004991 NP_004982 Q13465 MDS1_HUMAN Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA. 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 CAAGCCGGAAGGAAACAGACC 0.478000 31 10 0 0 0.008291 0 0 C8B 732 broad.mit.edu 37 1 57422471 57422471 + Missense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr1:57422471C>T uc001cyp.3 - 2 429 c.362G>A c.(361-363)cGa>cAa p.R121Q C8B_uc010oon.2_Missense_Mutation_p.R59Q|C8B_uc010ooo.2_Missense_Mutation_p.R69Q NM_000066 NP_000057 P07358 CO8B_HUMAN Homo sapiens complement component 8, beta polypeptide (C8B), mRNA. 121 LDL-receptor class A. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 52 GCCTTCACATCGCACTTGACT 0.483000 209 63 0 0 0.003610 0 0 COLEC11 78989 broad.mit.edu 37 2 3691389 3691389 + Missense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr2:3691389C>T uc002qya.3 + 6 645 c.497C>T c.(496-498)gCc>gTc p.A166V COLEC11_uc002qxz.3_Missense_Mutation_p.A163V|COLEC11_uc002qyb.3_Missense_Mutation_p.A142V|COLEC11_uc002qyc.3_Missense_Mutation_p.A142V|COLEC11_uc010ewo.3_Missense_Mutation_p.A118V|COLEC11_uc010ewp.3_Missense_Mutation_p.A140V|COLEC11_uc010ewq.3_Missense_Mutation_p.A116V|COLEC11_uc010ewr.3_Missense_Mutation_p.A116V|COLEC11_uc010ews.3_Missense_Mutation_p.A92V NM_024027 NP_076932 Q9BWP8 COL11_HUMAN Homo sapiens collectin sub-family member 11 (COLEC11), transcript variant 1, mRNA. 166 C-type lectin. collagen mannose binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1) 22 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.127) TACGCGGACGCCCAGCTGTCC 0.667000 21 10 0 0 0.006214 0 0 GRIK5 2901 broad.mit.edu 37 19 42569525 42569525 + Missense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr19:42569525C>T uc002osj.1 - 1 129 c.94G>A c.(94-96)Gat>Aat p.D32N GRIK5_uc010eib.1_5'UTR NM_002088 NP_002079 Q16478 GRIK5_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 5 (GRIK5), mRNA. 32 cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 35 Prostate(69;0.059) L-Glutamic Acid(DB00142) ACTGTCTGATCATCCAGGATT 0.622000 27 13 0 0 0.001855 0 0 KCNB1 3745 broad.mit.edu 37 20 47990865 47990865 + Missense_Mutation SNP A T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr20:47990865A>T uc002xur.1 - 1 1398 c.1232T>A c.(1231-1233)aTc>aAc p.I411N KCNB1_uc002xus.1_Missense_Mutation_p.I411N NM_004975 NP_004966 Q14721 KCNB1_HUMAN Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA. 411 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) ATTGACGATGATGGGGATGGG 0.512000 52 12 0 0 0.001855 0 0 ZNF516 9658 broad.mit.edu 37 18 74091512 74091512 + Missense_Mutation SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr18:74091512G>A uc021ulp.1 - 3 2876 c.2558C>T c.(2557-2559)cCc>cTc p.P853L ZNF516_uc002lmd.3_Non-coding_Transcript NM_014643 NP_055458 Q92618 ZN516_HUMAN Homo sapiens zinc finger protein 516 (ZNF516), mRNA. 853 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P853L(2) central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) CACTCCCAGGGGAGAAGAGCC 0.627000 86 30 0 0 0.002445 0 0 SRCAP 10847 broad.mit.edu 37 16 30735349 30735349 + Missense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr16:30735349C>T uc002dze.1 + 24 4989 c.4604C>T c.(4603-4605)cCa>cTa p.P1535L SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.P1330L NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA. 1535 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) TCACATGTTCCAGGGTTGAAC 0.572000 17 5 0 0 0.000602 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77401460 77401460 + Missense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr16:77401460C>T uc002ffc.4 - 3 1075 c.656G>A c.(655-657)gGc>gAc p.G219D ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_Non-coding_Transcript NM_199355 NP_955387 Q8TE60 ATS18_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA. 219 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.G219V(2)|p.G216_G219del(2) NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 CCGGCCAGAGCCGGGGTAGCC 0.547000 40 10 0 0 0.001368 0 0 SPATA16 83893 broad.mit.edu 37 3 172607390 172607390 + Missense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr3:172607390C>T uc003fin.4 - 10 1864 c.1680G>A c.(1678-1680)atG>atA p.M560I NM_031955 NP_114161 Q9BXB7 SPT16_HUMAN Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA. 560 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) GAAGTCGCTTCATTTTTGTTT 0.403000 139 34 0 0 0.005524 0 0 TPSG1 25823 broad.mit.edu 37 16 1271813 1271813 + Missense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr16:1271813C>T uc002ckw.2 - 5 943 c.941G>A c.(940-942)gGt>gAt p.G314D NM_012467 NP_036599 Q9NRR2 TRYG1_HUMAN Homo sapiens tryptase gamma 1 (TPSG1), mRNA. 314 proteolysis integral to plasma membrane serine-type endopeptidase activity liver(1)|lung(2)|skin(1) 4 Hepatocellular(780;0.00369) GAAGGGAGTACCATCCGCAGA 0.577000 19 9 0 0 0.000978 0 0 CCDC102B 79839 broad.mit.edu 37 18 66678264 66678264 + Nonsense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr18:66678264C>T uc002lkk.2 + 8 1580 c.1357C>T c.(1357-1359)Caa>Taa p.Q453* CCDC102B_uc002lki.2_Nonsense_Mutation_p.Q453* NM_001093729 NP_079057 Q68D86 C102B_HUMAN Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA. 453 breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1) 36 Esophageal squamous(42;0.0559)|Colorectal(73;0.0604) CCGAGTGGATCAAAATGAAGC 0.373000 22 8 0 0 0.000978 0 0 ZFR 51663 broad.mit.edu 37 5 32355973 32355973 + Missense_Mutation SNP G C C TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr5:32355973G>C uc003jhr.1 - 19 3198 c.3118C>G c.(3118-3120)Caa>Gaa p.Q1040E ZFR_uc010ium.1_Missense_Mutation_p.Q171E|ZFR_uc011cny.1_Non-coding_Transcript NM_016107 NP_057191 Q96KR1 ZFR_HUMAN Homo sapiens zinc finger RNA binding protein (ZFR), mRNA. 1040 multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2) 32 STAD - Stomach adenocarcinoma(35;0.19) TTAAAACGTTGGCTCATTTGC 0.398000 83 34 0 0 0.002836 0 0 KIAA0146 23514 broad.mit.edu 37 8 48641592 48641592 + Missense_Mutation SNP T C C TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr8:48641592T>C uc003xqd.3 + 17 2595 c.2533T>C c.(2533-2535)Tgc>Cgc p.C845R KIAA0146_uc011ldc.2_Missense_Mutation_p.C775R|KIAA0146_uc011ldd.2_Missense_Mutation_p.C785R|KIAA0146_uc003xqe.3_Missense_Mutation_p.C320R|KIAA0146_uc003xqf.3_Non-coding_Transcript|KIAA0146_uc010lxt.3_Intron|KIAA0146_uc011ldf.2_Missense_Mutation_p.C350R|KIAA0146_uc011ldg.2_Missense_Mutation_p.C335R|KIAA0146_uc003xqg.1_Intron NM_001080394 NP_001073863 Q14159 K0146_HUMAN Homo sapiens KIAA0146 (KIAA0146), mRNA. 845 central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 Lung NSC(58;0.175) AAGACCGCAGTGCAGAGTGAA 0.597000 22 6 0 0 0.001984 0 0 DSP 1832 broad.mit.edu 37 6 7575659 7575659 + Silent SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr6:7575659C>T uc003mxp.1 + 17 2847 c.2568C>T c.(2566-2568)ttC>ttT p.F856F DSP_uc003mxq.1_Silent_p.F856F|DSP_uc021yle.1_Silent_p.F856F NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 856 Globular 1. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TGGGCAAGTTCGGTGAAAAAG 0.498000 83 19 0 0 0.001882 0 0 THG1L 54974 broad.mit.edu 37 5 157158487 157158487 + Silent SNP G A A rs149523877 TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr5:157158487G>A uc003lxd.3 + 0 165 c.39G>A c.(37-39)ttG>ttA p.L13L THG1L_uc011ddu.2_5'UTR NM_017872 NP_060342 Q9NWX6 THG1_HUMAN Homo sapiens tRNA-histidine guanylyltransferase 1-like (S. cerevisiae) (THG1L), mRNA. 13 protein homotetramerization|tRNA modification mitochondrion GTP binding|metal ion binding|tRNA guanylyltransferase activity NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1) 13 Renal(175;0.00488) Medulloblastoma(196;0.0523) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ACGATTCCTTGGCCACCATTT 0.557000 63 25 0 0 0.003330 0 0 TDRD6 221400 broad.mit.edu 37 6 46657689 46657689 + Missense_Mutation SNP G T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr6:46657689G>T uc003oyj.3 + 0 2078 c.1824G>T c.(1822-1824)ttG>ttT p.L608F TDRD6_uc010jze.3_Missense_Mutation_p.L608F NM_001010870 NP_001010870 O60522 TDRD6_HUMAN Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA. 608 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) TTTGGCCTTTGGGAAAAACTT 0.428000 31 10 2.80697e-09 4.82846e-09 0.000978 1 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T rs121913377 TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 40 28 0 0 0.007291 0 0 LYST 1130 broad.mit.edu 37 1 235973240 235973240 + Missense_Mutation SNP A G G TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr1:235973240A>G uc001hxj.2 - 4 1053 c.878T>C c.(877-879)cTa>cCa p.L293P LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Missense_Mutation_p.L293P NM_000081 NP_000072 Q99698 LYST_HUMAN Homo sapiens lysosomal trafficking regulator (LYST), mRNA. 293 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) AAAGCCTGCTAGGAATTCAGT 0.438000 23 6 0 0 0.001984 0 0 EIF2C2 27161 broad.mit.edu 37 8 141542233 141542233 + Silent SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr8:141542233G>A uc003yvn.3 - 18 2531 c.2490C>T c.(2488-2490)acC>acT p.T830T EIF2C2_uc010meo.3_Silent_p.T796T|EIF2C2_uc010men.3_Silent_p.T753T NM_012154 NP_036286 Q9UKV8 AGO2_HUMAN Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA. 830 mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|mRNA cap binding complex|micro-ribonucleoprotein complex|nucleus|polysome RNA 7-methylguanosine cap binding|endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|siRNA binding|translation initiation factor activity NS(1)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 33 all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155) Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.158) TCTGCCCAGAGGTATGGCTTC 0.532000 204 31 0 0 0.003271 0 0 BMP3 651 broad.mit.edu 37 4 81967122 81967122 + Silent SNP C T T rs147415195 TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr4:81967122C>T uc003hmg.4 + 1 867 c.547C>T c.(547-549)Ctg>Ttg p.L183L NM_001201 NP_001192 P12645 BMP3_HUMAN Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA. 183 cartilage development|cell differentiation|cell-cell signaling|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity p.H182R(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 29 CCTTGGCCATCTGTCAGTGGA 0.438000 126 37 0 0 0.007835 0 0 OR4E2 26686 broad.mit.edu 37 14 22133748 22133748 + Missense_Mutation SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr14:22133748G>A uc010tmd.2 + 0 452 c.452G>A c.(451-453)gGg>gAg p.G151E NM_001001912 NP_001001912 Q8NGC2 OR4E2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA. 151 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 15 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) CTCTGGTTGGGGGGTACTGTT 0.483000 67 21 0 0 0.003330 0 0 IGFBP6 3489 broad.mit.edu 37 12 53494516 53494516 + Missense_Mutation SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr12:53494516G>A uc001sbu.1 + 1 421 c.355G>A c.(355-357)Gag>Aag p.E119K SOAT2_uc001sbv.3_5'Flank|SOAT2_uc009zms.3_5'Flank NM_002178 NP_002169 P24592 IBP6_HUMAN Homo sapiens insulin-like growth factor binding protein 6 (IGFBP6), mRNA. 119 negative regulation of cell proliferation|regulation of cell growth|signal transduction large_intestine(1)|lung(3)|ovary(1)|pancreas(1) 6 GAATCCTAAGGAGAGTAAACC 0.572000 51 14 0 0 0.002450 0 0 ROS1 6098 broad.mit.edu 37 6 117631283 117631283 + Missense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr6:117631283C>T uc003pxp.1 - 39 6594 c.6395G>A c.(6394-6396)aGt>aAt p.S2132N ROS1_uc011ebi.1_Non-coding_Transcript NM_002944 NP_002935 P08922 ROS_HUMAN Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA. 2132 Protein kinase. 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) ATCCATCAAACTTTCTGGAGC 0.418000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 68 30 0 0 0.002836 0 0 CACNG5 27091 broad.mit.edu 37 17 64880735 64880735 + Missense_Mutation SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr17:64880735G>A uc010wqi.2 + 4 764 c.527G>A c.(526-528)gGg>gAg p.G176E CACNG5_uc010wqj.2_Missense_Mutation_p.G176E|CACNG5_uc021uby.1_Non-coding_Transcript NM_145811 NP_665810 Q9UF02 CCG5_HUMAN Homo sapiens calcium channel, voltage-dependent, gamma subunit 5 (CACNG5), mRNA. 176 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|cell junction|postsynaptic density|postsynaptic membrane voltage-gated calcium channel activity NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 24 BRCA - Breast invasive adenocarcinoma(6;1.61e-08) TACAAGTATGGGTGGTCGTTT 0.552000 49 14 0 0 0.003163 0 0 OGG1 4968 broad.mit.edu 37 3 9798815 9798815 + Missense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr3:9798815C>T uc003bsi.3 + 6 1362 c.1019C>T c.(1018-1020)tCc>tTc p.S340F OGG1_uc003bsj.3_Missense_Mutation_p.P346S|OGG1_uc003bsh.3_3'UTR|OGG1_uc003bsl.3_Intron|OGG1_uc003bsk.3_Intron|OGG1_uc003bsm.3_Intron|OGG1_uc003bsn.3_Intron|OGG1_uc003bso.3_Intron|OGG1_uc003bsr.2_Missense_Mutation_p.S105F|OGG1_uc010hcm.2_Missense_Mutation_p.P133S|OGG1_uc003bsq.2_Missense_Mutation_p.P55S|OGG1_uc003bsp.2_Missense_Mutation_p.P111S NM_002542 NP_002533 O15527 OGG1_HUMAN Homo sapiens 8-oxoguanine DNA glycosylase (OGG1), nuclear gene encoding mitochondrial protein, transcript variant 1a, mRNA. 340 depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation mitochondrion|nuclear matrix|nuclear speck damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1) 8 Medulloblastoma(99;0.227) AGAAAGGGTTCCAAAGGGCCG 0.607000 Base excision repair (BER), DNA glycosylases 38 13 0 0 0.001368 0 0 ELMO1 9844 broad.mit.edu 37 7 37382254 37382254 + Nonsense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr7:37382254C>T uc022abv.1 - 1 751 c.41G>A c.(40-42)tGg>tAg p.W14* ELMO1_uc003tfk.2_Nonsense_Mutation_p.W14*|ELMO1_uc010kxg.2_Nonsense_Mutation_p.W14* NM_001206482 NP_001193411 Q92556 ELMO1_HUMAN Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA. 14 Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 GGCGCCCGGCCATTCTATGGC 0.483000 119 59 0 0 0.003610 0 0 COL15A1 1306 broad.mit.edu 37 9 101748013 101748013 + Silent SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr9:101748013G>A uc004azb.1 + 2 473 c.267G>A c.(265-267)agG>agA p.R89R NM_001855 NP_001846 P39059 COFA1_HUMAN Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA. 89 TSP N-terminal. angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) CCTTCTTCAGGGACTTCGCCA 0.617000 31 11 0 0 0.001855 0 0 OR3A1 4994 broad.mit.edu 37 17 3195158 3195158 + Missense_Mutation SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr17:3195158G>A uc002fvh.1 - 0 719 c.719C>T c.(718-720)gCc>gTc p.A240V NM_002550 NP_002541 P47881 OR3A1_HUMAN Homo sapiens olfactory receptor, family 3, subfamily A, member 1 (OR3A1), mRNA. 240 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 20 TGTGGAGAAGGCTTTCTTCCT 0.488000 39 7 0 0 0.003080 0 0 GREB1 9687 broad.mit.edu 37 2 11696826 11696826 + Missense_Mutation SNP A G G TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr2:11696826A>G uc002rbk.1 + 1 386 c.86A>G c.(85-87)aAc>aGc p.N29S GREB1_uc002rbl.3_Missense_Mutation_p.N29S|GREB1_uc002rbm.3_Intron|GREB1_uc002rbn.1_Missense_Mutation_p.N29S NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA. 29 integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) CTGCGGTCCAACAACCTGGTG 0.537000 42 9 0 0 0.004482 0 0 CAMTA1 23261 broad.mit.edu 37 1 7723467 7723467 + Missense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr1:7723467C>T uc001aoi.3 + 8 1067 c.860C>T c.(859-861)tCg>tTg p.S287L NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA. 287 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding p.S287L(2) breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) CGCATCATCTCGCCCAAGGTG 0.637000 T WWTR1 epitheliod hemangioendothelioma 84 27 0 0 0.006320 0 0 ZFP112 7771 broad.mit.edu 37 19 44834031 44834031 + Silent SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr19:44834031G>A uc010xwy.2 - 4 466 c.348C>T c.(346-348)tcC>tcT p.S116S ZFP112_uc010ejj.3_Silent_p.S99S|ZFP112_uc002ozc.4_Silent_p.S93S|ZFP112_uc010xwz.2_Silent_p.S98S NM_013380 NP_037512 Q9UJU3 ZF112_HUMAN Homo sapiens zinc finger protein 112 homolog (mouse) (ZFP112), transcript variant 2, mRNA. 99 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3) 41 GCTCTTTGGGGGAAAAGTAGC 0.418000 40 5 0 0 0.000602 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19666684 19666684 + Missense_Mutation SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr21:19666684G>A uc002ykw.3 - 20 2420 c.2389C>T c.(2389-2391)Ccc>Tcc p.P797S NM_002772 NP_002763 P98073 ENTK_HUMAN Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA. 797 Peptidase S1. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 ACAACCCAGGGCCAGGCCCCT 0.527000 80 23 0 0 0.002780 0 0 FAM86FP 653113 broad.mit.edu 37 12 8384412 8384412 + RNA SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr12:8384412G>A uc010sgk.2 - 4 c.1376C>T Homo sapiens family with sequence similarity 86, member F, pseudogene (FAM86FP), non-coding RNA. TGTCCTTCCCGCAGCTTCTTC 0.582000 21 4 0 0 0.001984 0 0 OR1J2 26740 broad.mit.edu 37 9 125273927 125273927 + Missense_Mutation SNP C G G TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr9:125273927C>G uc011lyv.2 + 0 847 c.847C>G c.(847-849)Ccc>Gcc p.P283A OR1J2_uc004bmj.2_Missense_Mutation_p.P283A NM_054107 NP_473448 Q8NGS2 OR1J2_HUMAN Homo sapiens olfactory receptor, family 1, subfamily J, member 2 (OR1J2), mRNA. 283 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1) 26 GGTGGTCACACCCATGTTGAA 0.448000 86 25 0 0 0.004656 0 0 GUCY2C 2984 broad.mit.edu 37 12 14804923 14804923 + Silent SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr12:14804923G>A uc001rcd.3 - 13 1712 c.1575C>T c.(1573-1575)ttC>ttT p.F525F NM_004963 NP_004954 P25092 GUC2C_HUMAN Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA. 525 Protein kinase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 GTTTTTCAGTGAAATTACCAT 0.363000 32 13 0 0 0.004990 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995915 140995915 + Missense_Mutation SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chrX:140995915G>A uc004fbt.3 + 3 3049 c.2725G>A c.(2725-2727)Gat>Aat p.D909N MAGEC1_uc010nsl.2_5'UTR|MAGEC1_uc022cfi.1_Missense_Mutation_p.D568N NM_005462 NP_005453 O60732 MAGC1_HUMAN Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA. 909 MAGE. protein binding p.D909N(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TTATACACTGGATGAAAAGGT 0.463000 HNSCC(15;0.026) 54 104 0 0 0.003610 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140167763 140167763 + Missense_Mutation SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr5:140167763G>A uc003lhb.2 + 0 1888 c.1888G>A c.(1888-1890)Gag>Aag p.E630K PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_Missense_Mutation_p.E630K NM_018900 NP_061723 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA. 641 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.D629N(1) 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) GTACACGGGCGAGATCAGCAC 0.667000 48 15 0 0 0.004007 0 0 RET 5979 broad.mit.edu 37 10 43606829 43606829 + Missense_Mutation SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr10:43606829G>A uc001jal.3 + 6 1628 c.1438G>A c.(1438-1440)Gaa>Aaa p.E480K RET_uc001jak.1_Missense_Mutation_p.E480K|RET_uc010qez.1_Missense_Mutation_p.E226K NM_020975 NP_066124 P07949 RET_HUMAN Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA. 480 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) CAAGTGTGCCGAACTTCACTA 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 30 10 0 0 0.000978 0 0 CD1C 911 broad.mit.edu 37 1 158261016 158261016 + Missense_Mutation SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr1:158261016G>A uc001fru.3 + 1 446 c.154G>A c.(154-156)Gag>Aag p.E52K CD1C_uc021pbl.1_5'Flank NM_001765 NP_001756 P29017 CD1C_HUMAN Homo sapiens CD1c molecule (CD1C), mRNA. 52 T cell activation involved in immune response|antigen processing and presentation endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 39 all_hematologic(112;0.0378) ATGGCTGGACGAGTTGCAGAC 0.498000 50 15 0 0 0.004990 0 0 CCBE1 147372 broad.mit.edu 37 18 57147453 57147453 + Missense_Mutation SNP C T T rs140934817 TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr18:57147453C>T uc002lib.3 - 2 300 c.230G>A c.(229-231)gGa>gAa p.G77E NM_133459 NP_597716 Q6UXH8 CCBE1_HUMAN Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA. 77 lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis collagen calcium ion binding p.G77E(2) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3) 24 Colorectal(73;0.175) AAATTTATATCCTTTGCAGCA 0.264000 22 14 0 0 0.004007 0 0 STAB2 55576 broad.mit.edu 37 12 104046378 104046378 + Silent SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr12:104046378G>A uc001tjw.3 + 11 1488 c.1302G>A c.(1300-1302)gtG>gtA p.V434V NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN Homo sapiens stabilin 2 (STAB2), mRNA. 434 FAS1 1. 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 AATACTTTGTGAAACTCCACA 0.363000 27 6 0 0 0.001984 0 0 DUOX1 53905 broad.mit.edu 37 15 45424173 45424173 + Silent SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr15:45424173C>T uc001zus.1 + 2 355 c.9C>T c.(7-9)ttC>ttT p.F3F DUOXA1_uc001zup.3_5'Flank|DUOXA1_uc010bec.3_5'Flank|DUOXA1_uc001zur.1_5'Flank|DUOXA1_uc010bed.1_5'Flank|DUOX1_uc001zut.1_Silent_p.F3F|DUOX1_uc010bee.1_5'UTR NM_017434 NP_787954 Q9NRD9 DUOX1_HUMAN Homo sapiens dual oxidase 1 (DUOX1), transcript variant 1, mRNA. 3 cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane NAD(P)H oxidase activity|NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1) 57 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) TCATGGGCTTCTGCCTGGCTC 0.507000 106 41 0 0 0.002522 0 0 LILRA1 11024 broad.mit.edu 37 19 55106622 55106622 + Missense_Mutation SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr19:55106622G>A uc002qgh.1 + 4 598 c.416G>A c.(415-417)gGg>gAg p.G139E LILRA1_uc010yfg.1_Intron|LILRA1_uc010yfh.2_Missense_Mutation_p.G139E NM_006863 NP_006854 O75019 LIRA1_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA. 139 Ig-like C2-type 2. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) ACCTCAGGAGGGAACGTGACC 0.542000 62 20 0 0 0.001523 0 0 ETV6 2120 broad.mit.edu 37 12 12022745 12022745 + Missense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr12:12022745C>T uc001qzz.3 + 4 1125 c.851C>T c.(850-852)tCc>tTc p.S284F ETV6_uc001raa.1_Missense_Mutation_p.S77F NM_001987 NP_001978 P41212 ETV6_HUMAN Homo sapiens ets variant 6 (ETV6), mRNA. 284 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) CCCCGGCACTCCGTGGATTTC 0.612000 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""" 39 8 0 0 0.004482 0 0 PRRG3 79057 broad.mit.edu 37 X 150869197 150869197 + Missense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chrX:150869197C>T uc022cgt.1 + 3 437 c.388C>T c.(388-390)Ccc>Tcc p.P130S PRRG3_uc004few.2_Missense_Mutation_p.P130S NM_024082 NP_076987 Q9BZD7 TMG3_HUMAN Homo sapiens proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) (PRRG3), transcript variant 1, mRNA. 130 extracellular region|integral to membrane calcium ion binding p.P130H(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3) 24 Acute lymphoblastic leukemia(192;6.56e-05) GCACACCCTCCCCCGGGTCAT 0.652000 22 49 0 0 0.003610 0 0 GPR112 139378 broad.mit.edu 37 X 135430935 135430935 + Silent SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chrX:135430935C>T uc004ezu.1 + 5 5361 c.5070C>T c.(5068-5070)tcC>tcT p.S1690S GPR112_uc010nsb.1_Silent_p.S1485S|GPR112_uc010nsc.1_Silent_p.S1457S NM_153834 NP_722576 Q8IZF6 GP112_HUMAN Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA. 1690 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.S1690F(1) NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CTATTTCCTCCATTCCAAAGA 0.448000 38 57 0 0 0.003610 0 0 CLSTN3 9746 broad.mit.edu 37 12 7288854 7288854 + Silent SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr12:7288854C>T uc001qss.3 + 4 1369 c.831C>T c.(829-831)ttC>ttT p.F277F CLSTN3_uc001qsr.3_Silent_p.F265F NM_014718 NP_055533 Q9BQT9 CSTN3_HUMAN Homo sapiens calsyntenin 3 (CLSTN3), mRNA. 265 homophilic cell adhesion Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1) 33 TGGCTTTGTTCCCTGGTATCC 0.557000 40 13 0 0 0.002450 0 0 TTN 7273 broad.mit.edu 37 2 179485033 179485033 + Silent SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr2:179485033G>A uc021vsy.1 - 196 38736 c.38511C>T c.(38509-38511)ttC>ttT p.F12837F MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.F6532F|TTN_uc021vta.1_Silent_p.F6465F|TTN_uc021vtb.1_Silent_p.F6340F NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 13764 Ig-like 85. 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) CAGCGTCATCGAACTCAGTGA 0.438000 80 19 0 0 0.006122 0 0 THBS2 7058 broad.mit.edu 37 6 169620354 169620354 + Silent SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr6:169620354C>T uc003qwt.3 - 21 3698 c.3450G>A c.(3448-3450)ctG>ctA p.L1150L NM_003247 NP_003238 P35442 TSP2_HUMAN Homo sapiens thrombospondin 2 (THBS2), mRNA. 1150 TSP C-terminal. cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) CAAATAGACCCAGCCGCCCGC 0.463000 64 32 0 0 0.002836 0 0 GPR98 84059 broad.mit.edu 37 5 89924433 89924433 + Silent SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr5:89924433G>A uc003kju.3 + 7 1389 c.1293G>A c.(1291-1293)gcG>gcA p.A431A GPR98_uc003kjt.3_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 431 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) ATGTCTCTGCGAATTGGGTGT 0.418000 41 25 0 0 0.006320 0 0 CMYA5 202333 broad.mit.edu 37 5 79095423 79095423 + Missense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr5:79095423C>T uc003kgc.3 + 12 12266 c.12194C>T c.(12193-12195)tCt>tTt p.S4065F NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA. 4065 B30.2/SPRY. perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) CCCCCGGATTCTGTAAGGCAC 0.468000 11 7 0 0 0.003080 0 0 OR1D2 4991 broad.mit.edu 37 17 2996152 2996152 + Silent SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr17:2996152G>A uc010vrb.2 - 0 139 c.139C>T c.(139-141)Ctg>Ttg p.L47L NM_002548 NP_002539 P34982 OR1D2_HUMAN Homo sapiens olfactory receptor, family 1, subfamily D, member 2 (OR1D2), mRNA. 47 cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity p.I46I(1) kidney(2)|large_intestine(2)|lung(10)|ovary(1) 15 CTGATGGCCAGGATGATGAGC 0.547000 103 22 0 0 0.002299 0 0 CNTN6 27255 broad.mit.edu 37 3 1269596 1269596 + Nonsense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr3:1269596C>T uc003boz.3 + 3 544 c.277C>T c.(277-279)Caa>Taa p.Q93* CNTN6_uc010hbo.2_Nonsense_Mutation_p.Q88*|CNTN6_uc011asj.2_Nonsense_Mutation_p.Q21*|CNTN6_uc003bpa.3_Nonsense_Mutation_p.Q93* NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN Homo sapiens contactin 6 (CNTN6), mRNA. 93 Ig-like C2-type 1. Notch signaling pathway|axon guidance|cell adhesion|central nervous system development anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) CCACACAGATCAAGATATTGG 0.448000 64 23 0 0 0.002780 0 0 TPTE 7179 broad.mit.edu 37 21 10996130 10996130 + RNA SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr21:10996130C>T uc002yis.1 - 11 c.2056G>A P56180 TPTE_HUMAN Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CACCATAAATCCACCAATACC 0.388000 49 6 0 0 0.003080 0 0 JAM2 58494 broad.mit.edu 37 21 27071073 27071073 + Missense_Mutation SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr21:27071073G>A uc002ylp.1 + 4 1024 c.479G>A c.(478-480)gGg>gAg p.G160E JAM2_uc011ace.1_Missense_Mutation_p.G160E|JAM2_uc002ylq.1_Non-coding_Transcript|JAM2_uc011acf.1_Missense_Mutation_p.G124E NM_021219 NP_067042 P57087 JAM2_HUMAN Homo sapiens junctional adhesion molecule 2 (JAM2), mRNA. 160 Ig-like C2-type. blood coagulation|cell-cell adhesion|leukocyte migration integral to plasma membrane|tight junction endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1) 19 GACAAAGAAGGGAATCCAGCT 0.468000 25 8 0 0 0.003080 0 0 ARHGAP44 9912 broad.mit.edu 37 17 12862115 12862115 + Missense_Mutation SNP C A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr17:12862115C>A uc002gnr.4 + 15 1751 c.1424C>A c.(1423-1425)cCa>cAa p.P475Q ARHGAP44_uc010vvk.2_Missense_Mutation_p.P475Q|ARHGAP44_uc010vvl.2_Missense_Mutation_p.P475Q|ARHGAP44_uc002gns.4_Missense_Mutation_p.P275Q|ARHGAP44_uc010vvm.2_Missense_Mutation_p.P475Q|ARHGAP44_uc010vvn.2_Non-coding_Transcript|ARHGAP44_uc002gnt.1_Missense_Mutation_p.P198Q NM_014859 NP_055674 Q17R89 RHG44_HUMAN Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA. 475 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1) 31 ATGCCCTCCCCAGACATGGAC 0.542000 12 7 1.06961e-07 1.83237e-07 0.003080 1 0 TAF7L 54457 broad.mit.edu 37 X 100547822 100547822 + Missense_Mutation SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chrX:100547822G>A uc004ehb.3 - 0 238 c.212C>T c.(211-213)gCc>gTc p.A71V TAF7L_uc004ehc.2_5'Flank NM_024885 NP_001161946 Q5H9L4 TAF7L_HUMAN Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA. 71 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter cytoplasm|transcription factor TFIID complex binding p.S70S(1) NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 AGCAGCCTGGGCGCTGCTGTC 0.572000 24 44 0 0 0.003214 0 0 PYGM 5837 broad.mit.edu 37 11 64521136 64521136 + Missense_Mutation SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr11:64521136G>A uc001oax.4 - 10 2075 c.1258C>T c.(1258-1260)Cca>Tca p.P420S PYGM_uc001oay.4_Missense_Mutation_p.P332S NM_005609 NP_005600 P11217 PYGM_HUMAN Homo sapiens phosphorylase, glycogen, muscle (PYGM), transcript variant 1, mRNA. 420 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) ACGTCCCCTGGGAATGCGGCC 0.687000 10 4 0 0 0.001168 0 0 DLK2 65989 broad.mit.edu 37 6 43418701 43418701 + Missense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr6:43418701C>T uc003ova.3 - 5 937 c.728G>A c.(727-729)gGt>gAt p.G243D DLK2_uc003ovb.3_Missense_Mutation_p.G243D NM_023932 NP_996262 Q6UY11 DLK2_HUMAN Homo sapiens delta-like 2 homolog (Drosophila) (DLK2), transcript variant 1, mRNA. 243 EGF-like 6; calcium-binding (Potential). integral to membrane calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 7 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) GGTCTTGCCACCATAGCCACT 0.637000 65 14 0 0 0.003163 0 0 COL12A1 1303 broad.mit.edu 37 6 75884849 75884849 + Missense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr6:75884849C>T uc021zbv.1 - 11 2650 c.2615G>A c.(2614-2616)gGa>gAa p.G872E COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Missense_Mutation_p.G872E|COL12A1_uc003pht.3_Intron NM_004370 NP_004361 Q99715 COCA1_HUMAN Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA. 872 Fibronectin type-III 5. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 TTCCTTCAATCCCTGCAGCAC 0.502000 88 23 0 0 0.003330 0 0 GAD1 2571 broad.mit.edu 37 2 171702018 171702018 + Missense_Mutation SNP G T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr2:171702018G>T uc002ugi.3 + 7 1176 c.754G>T c.(754-756)Ggc>Tgc p.G252C NM_000817 NP_000808 Q99259 DCE1_HUMAN Homo sapiens glutamate decarboxylase 1 (brain, 67kDa) (GAD1), transcript variant GAD67, mRNA. 252 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2) 35 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) GCTGACAGGGGGCGCCATATC 0.507000 42 15 1.99824e-07 3.40924e-07 0.004990 1 0 PCDHAC2 56134 broad.mit.edu 37 5 140264037 140264037 + Silent SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr5:140264037C>T uc003lif.2 + 0 2184 c.2184C>T c.(2182-2184)acC>acT p.T728T PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Silent_p.T728T|PCDHAC2_uc003lid.3_Silent_p.T728T NM_018904 NP_061727 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA. 736 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) CACCGCCCACCGAGGGCGCGT 0.647000 67 17 0 0 0.006122 0 0 APOB 338 broad.mit.edu 37 2 21230600 21230600 + Missense_Mutation SNP G A A rs61742323 byFrequency TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr2:21230600G>A uc002red.3 - 25 9268 c.9140C>T c.(9139-9141)aCg>aTg p.T3047M NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 3047 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TGTGGATGCCGTGATCTCAAA 0.393000 326 92 0 0 0.003610 0 0 CHAT 1103 broad.mit.edu 37 10 50835803 50835803 + Nonsense_Mutation SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr10:50835803G>A uc001jhz.2 + 6 1236 c.1083G>A c.(1081-1083)tgG>tgA p.W361* CHAT_uc001jhv.1_Nonsense_Mutation_p.W243*|CHAT_uc001jhx.1_Nonsense_Mutation_p.W243*|CHAT_uc001jhy.1_Nonsense_Mutation_p.W243*|CHAT_uc001jia.2_Nonsense_Mutation_p.W279*|CHAT_uc010qgs.1_Nonsense_Mutation_p.W243* NM_020549 NP_066266 P28329 CLAT_HUMAN Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA. 361 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) GGAGCGAGTGGGCCGAGGCCA 0.577000 27 6 0 0 0.001984 0 0 ZNF207 7756 broad.mit.edu 37 17 30692381 30692381 + Missense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr17:30692381C>T uc010csz.3 + 8 1059 c.712C>T c.(712-714)Cct>Tct p.P238S ZNF207_uc002hhj.4_Missense_Mutation_p.P235S|ZNF207_uc002hhh.4_Missense_Mutation_p.P219S|ZNF207_uc002hhi.4_Missense_Mutation_p.P235S|ZNF207_uc002hhk.1_Missense_Mutation_p.P235S|ZNF207_uc002hhl.1_Non-coding_Transcript O43670 ZN207_HUMAN Homo sapiens zinc finger protein 207 (ZNF207), transcript variant 3, mRNA. 219 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2) 10 Breast(31;0.116)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.239) TCCTGGAATTCCTCCAATGAC 0.468000 45 14 0 0 0.002450 0 0 COL9A1 1297 broad.mit.edu 37 6 70966482 70966482 + Missense_Mutation SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr6:70966482G>A uc003pfg.4 - 20 1651 c.1492C>T c.(1492-1494)Cct>Tct p.P498S COL9A1_uc003pfe.4_Missense_Mutation_p.P71S|COL9A1_uc003pff.4_Missense_Mutation_p.P255S NM_001851 NP_001842 P20849 CO9A1_HUMAN Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA. 498 Triple-helical region (COL2). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 GGTGCACCAGGAAGACCCTGA 0.403000 30 8 0 0 0.006214 0 0 CD207 50489 broad.mit.edu 37 2 71062730 71062730 + Missense_Mutation SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr2:71062730G>A uc002shg.3 - 1 129 c.82C>T c.(82-84)Ccc>Tcc p.P28S NM_015717 NP_056532 Q9UJ71 CLC4K_HUMAN Homo sapiens CD207 molecule, langerin (CD207), mRNA. 28 defense response to virus endocytic vesicle|integral to membrane mannose binding endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1) 20 CCGGACTTGGGAGGAGGCTCT 0.577000 17 4 0 0 0.000248 0 0 PARD3B 117583 broad.mit.edu 37 2 206305171 206305171 + Missense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr2:206305171C>T uc002var.2 + 19 3026 c.2819C>T c.(2818-2820)tCa>tTa p.S940L PARD3B_uc002vao.2_Intron|PARD3B_uc002vap.2_Missense_Mutation_p.S878L|PARD3B_uc002vaq.2_Missense_Mutation_p.S871L NM_205863 NP_689739 Q8TEW8 PAR3L_HUMAN Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA. 940 cell cycle|cell division endomembrane system|tight junction breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) GCAATTGGATCAGTGTATGAT 0.428000 65 19 0 0 0.007413 0 0 OR4K5 79317 broad.mit.edu 37 14 20389538 20389538 + Missense_Mutation SNP A T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr14:20389538A>T uc010tkw.2 + 0 773 c.773A>T c.(772-774)tAt>tTt p.Y258F NM_001005483 NP_001005483 Q8NGD3 OR4K5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA. 258 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATCTTCATCTATGTGTGGCCC 0.403000 173 28 0 0 0.007291 0 0 PFAS 5198 broad.mit.edu 37 17 8159863 8159863 + Silent SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr17:8159863C>T uc002gkr.3 + 7 984 c.843C>T c.(841-843)gtC>gtT p.V281V PFAS_uc010vuv.2_5'UTR NM_012393 NP_036525 O15067 PUR4_HUMAN Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA. 281 'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process cytosol ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GAAAGGAAGTCCGATTCCTAC 0.577000 26 13 0 0 0.001855 0 0 PSEN1 5663 broad.mit.edu 37 14 73637678 73637678 + Silent SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr14:73637678C>T uc001xnr.3 + 3 545 c.261C>T c.(259-261)gtC>gtT p.V87V PSEN1_uc001xnv.3_Silent_p.V83V|PSEN1_uc010ark.3_Silent_p.V83V|PSEN1_uc001xnt.1_Non-coding_Transcript|PSEN1_uc001xnu.3_Non-coding_Transcript|PSEN1_uc001xnq.4_Silent_p.V87V NM_000021 NP_000012 P49768 PSN1_HUMAN Homo sapiens presenilin 1 (PSEN1), transcript variant 1, mRNA. 87 Notch receptor processing|Notch signaling pathway|amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis Golgi membrane|Z disc|apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum PDZ domain binding|aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075) TGCTCTTTGTCCCTGTGACTC 0.498000 23 10 0 0 0.008291 0 0 SMARCB1 6598 broad.mit.edu 37 22 24143200 24143200 + Silent SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr22:24143200C>T uc002zyd.3 + 3 612 c.405C>T c.(403-405)gcC>gcT p.A135A SMARCB1_uc002zyg.2_Silent_p.A144A|SMARCB1_uc011ajb.1_Silent_p.A135A|SMARCB1_uc002zya.3_Silent_p.A144A|SMARCB1_uc002zyb.3_Silent_p.A144A|SMARCB1_uc002zyc.3_Silent_p.A135A|SMARCB1_uc002zye.1_Intron|SMARCB1_uc002zyf.1_Intron|SMARCB1_uc010gue.1_Intron NM_001007468 NP_001007469 Q12824 SNF5_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 (SMARCB1), transcript variant 2, mRNA. 144 DNA-binding (Potential). DNA integration|cell cycle|chromatin remodeling|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent SWI/SNF complex|nBAF complex|npBAF complex|nucleolus|nucleoplasm p53 binding p.?(5) bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194) 458 Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05) ACTTAGATGCCGTGCCATGCT 0.572000 """D, N, F, S""" malignant rhabdoid malignant rhabdoid 27 10 0 0 0.006214 0 0 COL3A1 1281 broad.mit.edu 37 2 189873692 189873692 + Missense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr2:189873692C>T uc002uqj.1 + 47 3685 c.3568C>T c.(3568-3570)Cct>Tct p.P1190S NM_000090 NP_000081 P02461 CO3A1_HUMAN Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA. 1190 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) TCCTGGACCTCCTGGTGCCCC 0.557000 44 10 0 0 0.000978 0 0 SCN5A 6331 broad.mit.edu 37 3 38646304 38646304 + Silent SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr3:38646304C>T uc021wvo.1 - 9 1486 c.1434G>A c.(1432-1434)agG>agA p.R478R SCN5A_uc021wvk.1_Silent_p.R478R|SCN5A_uc021wvl.1_Silent_p.R478R|SCN5A_uc021wvm.1_Silent_p.R478R|SCN5A_uc021wvn.1_Silent_p.R478R|SCN5A_uc021wvp.1_Silent_p.R478R|SCN5A_uc021wvq.1_Silent_p.R478R|SCN5A_uc021wvr.1_Silent_p.R478R|SCN5A_uc021wvs.1_Silent_p.R478R|SCN5A_uc021wvt.1_Silent_p.R478R|SCN5A_uc021wvu.1_Silent_p.R478R|SCN5A_uc021wvv.1_Silent_p.R478R|SCN5A_uc021wvj.1_Silent_p.R344R|SCN5A_uc021wvi.1_Silent_p.R344R|SCN5A_uc021wvw.1_Silent_p.R89R NM_198056 NP_932173 Q14524 SCN5A_HUMAN Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA. 478 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) TCCGTTTTCTCCTCTTGCTTC 0.557000 28 9 0 0 0.004482 0 0 CEP89 84902 broad.mit.edu 37 19 33406376 33406376 + Missense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr19:33406376C>T uc002nty.3 - 13 1521 c.1432G>A c.(1432-1434)Ggc>Agc p.G478S CEP89_uc002ntx.3_Missense_Mutation_p.G231S|CEP89_uc010edg.3_Non-coding_Transcript NM_032816 NP_116205 Q96ST8 CEP89_HUMAN Homo sapiens centrosomal protein 89kDa (CEP89), mRNA. 478 centrosome|spindle pole breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 35 TTTTCCTGGCCGTGGGTTTTT 0.453000 28 7 0 0 0.006214 0 0 FXYD4 53828 broad.mit.edu 37 10 43870072 43870072 + Missense_Mutation SNP G A A rs150156235 byFrequency TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr10:43870072G>A uc001jaq.1 + 4 414 c.82G>A c.(82-84)Gat>Aat p.D28N NM_001184963 NP_001171892 P59646 FXYD4_HUMAN Homo sapiens FXYD domain containing ion transport regulator 4 (FXYD4), transcript variant 2, mRNA. 28 integral to membrane NS(1)|large_intestine(1)|lung(3) 5 CAATAAAGACGATCCCTTCTA 0.522000 98 25 0 0 0.002096 0 0 SIN3A 25942 broad.mit.edu 37 15 75684776 75684776 + Silent SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr15:75684776G>A uc002bai.3 - 14 2917 c.2658C>T c.(2656-2658)ttC>ttT p.F886F SIN3A_uc002baj.3_Silent_p.F886F|SIN3A_uc010uml.2_Silent_p.F886F NM_015477 NP_056292 Q96ST3 SIN3A_HUMAN Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA. 886 blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent Sin3 complex|nucleolus protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 63 TGTTGACATAGAAGAGGTTGT 0.443000 46 15 0 0 0.002450 0 0 TLL1 7092 broad.mit.edu 37 4 166914025 166914025 + Missense_Mutation SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr4:166914025G>A uc003irh.2 + 2 997 c.350G>A c.(349-351)aGa>aAa p.R117K TLL1_uc021xud.1_Missense_Mutation_p.R117K|TLL1_uc011cjn.2_Missense_Mutation_p.R117K|TLL1_uc011cjo.2_5'UTR NM_012464 NP_036596 O43897 TLL1_HUMAN Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA. 117 cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) AGGATAAGAAGAATTGGCTTT 0.368000 35 8 0 0 0.006214 0 0 ATP8B4 79895 broad.mit.edu 37 15 50189680 50189680 + Missense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr15:50189680C>T uc001zxu.3 - 22 2648 c.2506G>A c.(2506-2508)Gaa>Aaa p.E836K ATP8B4_uc010ber.3_Missense_Mutation_p.E709K|ATP8B4_uc010ufd.2_Missense_Mutation_p.E646K|ATP8B4_uc010ufe.2_Non-coding_Transcript|ATP8B4_uc001zxv.1_Missense_Mutation_p.E134K NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA. 836 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) TGCAATCCTTCCTGGCCGCTG 0.448000 68 20 0 0 0.001523 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37419179 37419179 + Missense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr10:37419179C>T uc021ppc.1 + 2 314 c.215C>T c.(214-216)tCt>tTt p.S72F ANKRD30A_uc001iza.1_Missense_Mutation_p.S72F NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA. 128 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 CTGATAGATTCTGGTGCCGAT 0.368000 35 10 0 0 0.006214 0 0 ELTD1 64123 broad.mit.edu 37 1 79387394 79387394 + Silent SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr1:79387394C>T uc001diq.4 - 8 1317 c.1161G>A c.(1159-1161)gaG>gaA p.E387E NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA. 387 GPS. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) GCTCACAGCCCTCTGAAGACC 0.428000 29 13 0 0 0.006122 0 0 ASTN1 460 broad.mit.edu 37 1 176905442 176905442 + Silent SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr1:176905442C>T uc001glc.3 - 14 2654 c.2442G>A c.(2440-2442)gtG>gtA p.V814V ASTN1_uc001glb.1_Silent_p.V814V|ASTN1_uc001gld.1_Silent_p.V814V|ASTN1_uc009wwx.1_Silent_p.V814V NM_004319 NP_004310 O14525 ASTN1_HUMAN Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA. 822 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 TGTGGTACATCACAGACCGGA 0.517000 33 4 0 0 0.000248 0 0 ATP8A2 51761 broad.mit.edu 37 13 26402291 26402291 + Silent SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr13:26402291G>A uc001uqk.3 + 27 2857 c.2715G>A c.(2713-2715)caG>caA p.Q905Q ATP8A2_uc010tdi.2_Intron|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc010aaj.1_Silent_p.Q455Q NM_016529 NP_057613 Q9NTI2 AT8A2_HUMAN Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA. 865 ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1) 72 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) TTTCTGGGCAGATTTTATTTG 0.373000 111 24 0 0 0.008361 0 0 DSCAML1 57453 broad.mit.edu 37 11 117299431 117299431 + Silent SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr11:117299431G>A uc001prh.1 - 32 5957 c.5955C>T c.(5953-5955)ccC>ccT p.P1985P NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA. 1925 Pro-rich. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) AGGCCTCACGGGGTGGGACCA 0.632000 2 6 0 0 0.003080 0 0 RNF31 55072 broad.mit.edu 37 14 24624861 24624861 + Missense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr14:24624861C>T uc001wmn.1 + 13 2702 c.2453C>T c.(2452-2454)cCc>cTc p.P818L RNF31_uc001wml.1_Missense_Mutation_p.P667L|RNF31_uc010alg.1_Missense_Mutation_p.P577L|RNF31_uc001wmo.1_Missense_Mutation_p.P285L|RNF31_uc001wmp.3_Non-coding_Transcript|RNF31_uc010alh.1_Missense_Mutation_p.P11S NM_017999 NP_060469 Q96EP0 RNF31_HUMAN Homo sapiens ring finger protein 31 (RNF31), mRNA. 818 CD40 signaling pathway|T cell receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination CD40 receptor complex|LUBAC complex|internal side of plasma membrane ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1) 39 GBM - Glioblastoma multiforme(265;0.00861) GCAACTTGTCCCCAGTGTCAC 0.512000 54 18 0 0 0.001882 0 0 RAPGEF4 11069 broad.mit.edu 37 2 173853540 173853540 + Silent SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr2:173853540C>T uc002uhv.4 + 13 1534 c.1347C>T c.(1345-1347)gaC>gaT p.D449D RAPGEF4_uc002uhw.4_Silent_p.D305D|RAPGEF4_uc010zec.1_Silent_p.D296D|RAPGEF4_uc010zed.1_Silent_p.D278D|RAPGEF4_uc010zee.1_Silent_p.D296D|RAPGEF4_uc010fqo.2_Silent_p.D278D|RAPGEF4_uc010zef.1_Silent_p.D229D|RAPGEF4_uc010zeg.1_Silent_p.D276D|RAPGEF4_uc010fqp.1_Silent_p.D229D|RAPGEF4_uc010zeh.1_Silent_p.D229D NM_007023 NP_008954 Q8WZA2 RPGF4_HUMAN Homo sapiens Rap guanine nucleotide exchange factor (GEF) 4 (RAPGEF4), transcript variant 1, mRNA. 449 G-protein coupled receptor protein signaling pathway|blood coagulation|energy reserve metabolic process|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex|membrane fraction|plasma membrane Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity|cAMP binding|cAMP-dependent protein kinase regulator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 OV - Ovarian serous cystadenocarcinoma(117;0.194) TAAGAGTAGACAAGGAGGATT 0.438000 45 12 0 0 0.001368 0 0 NTNG1 22854 broad.mit.edu 37 1 107691307 107691307 + Missense_Mutation SNP A G G TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr1:107691307A>G uc001dvh.4 + 1 810 c.92A>G c.(91-93)gAt>gGt p.D31G NTNG1_uc001dvc.4_Missense_Mutation_p.D31G|NTNG1_uc010out.2_Missense_Mutation_p.D31G|NTNG1_uc001dvf.4_Missense_Mutation_p.D31G|NTNG1_uc001dvd.1_Missense_Mutation_p.D31G NM_001113226 NP_001106697 Q9Y2I2 NTNG1_HUMAN Homo sapiens netrin G1 (NTNG1), transcript variant 1, mRNA. 31 axonogenesis anchored to plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1) 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) GGACATTATGATTTGTGTAAG 0.438000 67 20 0 0 0.008871 0 0 HLA-DQB2 3120 broad.mit.edu 37 6 32726774 32726774 + Missense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr6:32726774C>T uc003obz.2 - 2 582 c.499G>A c.(499-501)Gcc>Acc p.A167T HLA-DQB2_uc003oby.4_Missense_Mutation_p.A167T NM_001198858 NP_001185787 Q5SR06 Q5SR06_HUMAN Homo sapiens major histocompatibility complex, class II, DQ beta 2 (HLA-DQB2), mRNA. 167 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response MHC class II protein complex|integral to membrane p.A167T(2) endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 ACAACACCGGCTGTCTCCTCC 0.542000 44 5 0 0 0.003080 0 0 DNAH14 127602 broad.mit.edu 37 1 225140444 225140444 + Nonsense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr1:225140444C>T uc001how.2 + 1 255 c.40C>T c.(40-42)Caa>Taa p.Q14* DNAH14_uc001hou.4_Nonsense_Mutation_p.Q14*|DNAH14_uc001hot.4_Nonsense_Mutation_p.Q14*|DNAH14_uc001hov.4_Nonsense_Mutation_p.Q14* NM_001373 NP_001364 Q0VDD8 DYH14_HUMAN Homo sapiens dynein, axonemal, heavy chain 14 (DNAH14), transcript variant 1, mRNA. 191 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|microtubule motor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1) 27 AACTGAAAATCAAGAGATGGA 0.308000 12 6 0 0 0.001984 0 0 ARHGAP28 79822 broad.mit.edu 37 18 6859866 6859866 + Silent SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr18:6859866G>A uc002knc.3 + 4 3751 c.540G>A c.(538-540)ggG>ggA p.G180G ARHGAP28_uc002kne.3_Silent_p.G73G|ARHGAP28_uc010wzi.2_Silent_p.G55G|ARHGAP28_uc002knf.3_Silent_p.G64G NM_001010000 NP_001010000 B4DXL2 B4DXL2_HUMAN Homo sapiens Rho GTPase activating protein 28 (ARHGAP28), mRNA. 55 signal transduction intracellular breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 37 Colorectal(10;0.168) ATAAAGAAGGGAGTTTTGCGG 0.433000 113 24 0 0 0.007291 0 0 CYP2A13 1553 broad.mit.edu 37 19 41597771 41597771 + Silent SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr19:41597771C>T uc002opt.3 + 4 798 c.789C>T c.(787-789)tcC>tcT p.S263S NM_000766 NP_000757 Q16696 CP2AD_HUMAN Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA. 263 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2) 42 Clomipramine(DB01242)|Nicotine(DB00184) ATCCCAATTCCCCACGGGACT 0.582000 40 10 0 0 0.001368 0 0 MYOF 26509 broad.mit.edu 37 10 95147614 95147614 + Silent SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr10:95147614C>T uc001kin.3 - 18 1761 c.1638G>A c.(1636-1638)gaG>gaA p.E546E MYOF_uc001kio.3_Silent_p.E533E NM_013451 NP_038479 Q9NZM1 MYOF_HUMAN Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA. 546 blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 GTGGTGTCTTCTCAAGAAAAG 0.433000 84 25 0 0 0.004656 0 0 OR1F1 4992 broad.mit.edu 37 16 3255038 3255038 + Silent SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr16:3255038C>T uc010uwu.2 + 0 792 c.792C>T c.(790-792)tcC>tcT p.S264S NM_012360 NP_036492 O43749 OR1F1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily F, member 1 (OR1F1), mRNA. 264 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(2)|lung(7) 11 ACCCTCTGTCCTCCCACTCAG 0.483000 97 26 0 0 0.007291 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107423285 107423285 + Missense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr2:107423285C>T uc002tdq.3 - 5 1558 c.1439G>A c.(1438-1440)gGg>gAg p.G480E ST6GAL2_uc002tdr.3_Missense_Mutation_p.G480E NM_001142351 NP_115917 Q96JF0 SIAT2_HUMAN Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA. 480 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 GTGGTACGCCCCGAGGGTGCA 0.597000 37 6 0 0 0.001168 0 0 LECT1 11061 broad.mit.edu 37 13 53298220 53298220 + Missense_Mutation SNP C T T rs881482 TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr13:53298220C>T uc001vhf.2 - 3 491 c.380G>A c.(379-381)gGa>gAa p.G127E LECT1_uc001vhg.2_Missense_Mutation_p.G127E|LECT1_uc001vhh.2_Intron NM_007015 NP_008946 O75829 LECT1_HUMAN Homo sapiens leukocyte cell derived chemotaxin 1 (LECT1), transcript variant 1, mRNA. 127 BRICHOS. cartilage development|proteoglycan metabolic process endomembrane system|extracellular region|integral to membrane NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1) 15 Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.38e-08) CTTCTCTCCTCCAGCAAAACG 0.448000 27 4 0 0 0.000602 0 0 BFSP2 8419 broad.mit.edu 37 3 133167448 133167448 + Silent SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr3:133167448C>T uc003epn.1 + 2 826 c.688C>T c.(688-690)Ctg>Ttg p.L230L BC007984_uc003epo.3_Intron NM_003571 NP_003562 Q13515 BFSP2_HUMAN Homo sapiens beaded filament structural protein 2, phakinin (BFSP2), mRNA. 230 Rod. response to stimulus|visual perception cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1) 13 AATAGAAAGTCTGAAAGAAGA 0.448000 30 6 0 0 0.001168 0 0 OR6V1 346517 broad.mit.edu 37 7 142749462 142749462 + Missense_Mutation SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr7:142749462G>A uc011ksv.2 + 0 25 c.25G>A c.(25-27)Gaa>Aaa p.E9K NM_001001667 NP_001001667 Q8N148 OR6V1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA. 9 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S8S(1) endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 20 Melanoma(164;0.059) CCAGCCCTCCGAATTTGTCCT 0.517000 138 31 0 0 0.004289 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41055889 41055889 + Nonsense_Mutation SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr5:41055889G>A uc003jmj.4 - 9 1478 c.988C>T c.(988-990)Cga>Tga p.R330* HEATR7B2_uc003jmi.4_Intron NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA. 330 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 ATTCCCACTCGAATGGCTTCA 0.413000 55 17 0 0 0.007413 0 0 FCAR 2204 broad.mit.edu 37 19 55396704 55396704 + Missense_Mutation SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr19:55396704G>A uc002qhr.1 + 2 325 c.128G>A c.(127-129)gGa>gAa p.G43E FCAR_uc021vbp.1_Non-coding_Transcript|FCAR_uc002qhq.3_Missense_Mutation_p.G43E|FCAR_uc002qhs.1_Non-coding_Transcript|FCAR_uc002qht.1_Missense_Mutation_p.G16E|FCAR_uc010esi.1_Missense_Mutation_p.G16E|FCAR_uc002qhu.1_Missense_Mutation_p.G43E|FCAR_uc002qhv.1_Missense_Mutation_p.G43E|FCAR_uc002qhw.1_Missense_Mutation_p.G31E|FCAR_uc002qhx.1_Missense_Mutation_p.G31E|FCAR_uc002qhy.1_Missense_Mutation_p.G31E|FCAR_uc002qhz.1_Missense_Mutation_p.G31E|FCAR_uc002qia.1_Intron NM_002000 NP_001991 P24071 FCAR_HUMAN Homo sapiens Fc fragment of IgA, receptor for (FCAR), transcript variant 1, mRNA. 43 Ig-like C2-type 1. immune response extracellular region|integral to plasma membrane IgA binding|receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2) 24 GBM - Glioblastoma multiforme(193;0.0443) CCCTTGGATGGATCTGTGAAA 0.502000 33 5 0 0 0.000602 0 0 COL4A5 1287 broad.mit.edu 37 X 107841970 107841970 + Silent SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chrX:107841970G>A uc022ccg.1 + 24 2020 c.1818G>A c.(1816-1818)ggG>ggA p.G606G COL4A5_uc004enz.1_Silent_p.G606G|COL4A5_uc004eob.1_Silent_p.G214G NM_033380 NP_203699 P29400 CO4A5_HUMAN Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA. 606 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 GTCCCCCTGGGAACCCAGGTT 0.483000 Alport syndrome with Diffuse Leiomyomatosis 20 50 0 0 0.003610 0 0 RELN 5649 broad.mit.edu 37 7 103162552 103162552 + Nonsense_Mutation SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr7:103162552G>A uc022ajr.1 - 47 7745 c.7585C>T c.(7585-7587)Cag>Tag p.Q2529* RELN_uc022ajq.1_Nonsense_Mutation_p.Q2529*|RELN_uc010liz.3_Nonsense_Mutation_p.Q2529* NM_005045 NP_005036 P78509 RELN_HUMAN Homo sapiens reelin (RELN), transcript variant 1, mRNA. 2529 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) AGCCAGTTCTGACTGGATGGA 0.542000 25 34 0 0 0.003271 0 0 OR10G3 26533 broad.mit.edu 37 14 22038677 22038677 + Missense_Mutation SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr14:22038677G>A uc010tmb.2 - 0 199 c.199C>T c.(199-201)Ctc>Ttc p.L67F NM_001005465 NP_001005465 Q8NGC4 O10G3_HUMAN Homo sapiens olfactory receptor, family 10, subfamily G, member 3 (OR10G3), mRNA. 67 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L67L(1) central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7) 15 all_cancers(95;0.000987) GBM - Glioblastoma multiforme(265;0.0139) ATGACTGAGAGAACACCAAGA 0.483000 27 6 0 0 0.001168 0 0 OR4K2 390431 broad.mit.edu 37 14 20345323 20345323 + Silent SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr14:20345323G>A uc001vwh.1 + 0 897 c.897G>A c.(895-897)agG>agA p.R299R NM_001005501 NP_001005501 Q8NGD2 OR4K2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA. 299 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R299S(2) NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TAGCCATGAGGAAACTGAAAA 0.343000 61 8 0 0 0.004482 0 0 PRPF38B 55119 broad.mit.edu 37 1 109242118 109242118 + Missense_Mutation SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr1:109242118G>A uc001dvv.4 + 5 1399 c.1117G>A c.(1117-1119)Gaa>Aaa p.E373K PRPF38B_uc001dvw.4_Missense_Mutation_p.E262K|PRPF38B_uc010ouz.2_Missense_Mutation_p.E176K NM_018061 NP_060531 Q5VTL8 PR38B_HUMAN Homo sapiens PRP38 pre-mRNA processing factor 38 (yeast) domain containing B (PRPF38B), transcript variant 1, mRNA. 373 Arg-rich. RNA splicing|mRNA processing spliceosomal complex NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1) 19 all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161) ctatgataaggaaagaggaaa 0.433000 2 3 0 0 0.004672 0 0 SCNN1G 6340 broad.mit.edu 37 16 23200933 23200933 + Missense_Mutation SNP A C C TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr16:23200933A>C uc002dlm.1 + 2 698 c.559A>C c.(559-561)Att>Ctt p.I187L NM_001039 NP_001030 P51170 SCNNG_HUMAN Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA. 187 excretion|sensory perception of taste apical plasma membrane|integral to plasma membrane WW domain binding|ligand-gated sodium channel activity NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 34 GBM - Glioblastoma multiforme(48;0.0366) Amiloride(DB00594)|Triamterene(DB00384) CGGTAGCATCATTCACAAGGC 0.502000 121 41 0 0 0.003610 0 0 OPRK1 4986 broad.mit.edu 37 8 54142118 54142118 + Silent SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr8:54142118G>A uc003xrh.1 - 2 1257 c.882C>T c.(880-882)atC>atT p.I294I OPRK1_uc022aup.1_Silent_p.I174I|OPRK1_uc003xri.1_Silent_p.I294I|OPRK1_uc010lyc.1_Silent_p.I205I NM_000912 NP_000903 P41145 OPRK_HUMAN Homo sapiens opioid receptor, kappa 1 (OPRK1), mRNA. 294 behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding p.L295M(1) NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 43 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) CCTCCACCAGGATGAATATGT 0.557000 19 8 0 0 0.004482 0 0 PLXNA4 91584 broad.mit.edu 37 7 132174134 132174134 + Missense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr7:132174134C>T uc003vra.4 - 2 1517 c.1288G>A c.(1288-1290)Gac>Aac p.D430N PLXNA4_uc003vrc.2_Missense_Mutation_p.D430N|PLXNA4_uc003vrb.3_Missense_Mutation_p.D430N NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA. 430 Sema. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 GTCATGCGGTCCCTGTCCTCC 0.532000 30 27 0 0 0.004656 0 0 KIAA1614 57710 broad.mit.edu 37 1 180886115 180886115 + Silent SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr1:180886115C>T uc001gok.2 + 1 943 c.876C>T c.(874-876)tcC>tcT p.S292S NM_020950 NP_066001 Q5VZ46 K1614_HUMAN Homo sapiens KIAA1614 (KIAA1614), mRNA. 292 NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 33 GTGTCTTGTCCCTGTCTGATC 0.637000 63 15 0 0 0.003163 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140782574 140782574 + Missense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr5:140782574C>T uc003lkh.2 + 0 55 c.55C>T c.(55-57)Ctc>Ttc p.L19F PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Missense_Mutation_p.L19F NM_018921 NP_061744 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA. 19 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTATGCTCGCTCCTGGGGAT 0.537000 20 9 0 0 0.006214 0 0 ACE 1636 broad.mit.edu 37 17 61558977 61558977 + Silent SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr17:61558977C>T uc002jau.2 + 6 1030 c.996C>T c.(994-996)tcC>tcT p.S332S ACE_uc010wpi.2_Silent_p.S332S|ACE_uc010ddu.2_Silent_p.S149S NM_000789 NP_000780 P12821 ACE_HUMAN Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA. 332 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) TCTTCACCTCCCTGGAGCTCT 0.677000 28 10 0 0 0.001368 0 0 PI4KA 5297 broad.mit.edu 37 22 21147483 21147483 + Missense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr22:21147483C>T uc002zsz.4 - 18 2413 c.2152G>A c.(2152-2154)Gtg>Atg p.V718M NM_058004 NP_477352 P42356 PI4KA_HUMAN Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA. 718 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) ATACTCACCACAGCTATTACA 0.373000 20 4 0 0 0.000602 0 0 OR51Q1 390061 broad.mit.edu 37 11 5444160 5444160 + Silent SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr11:5444160C>T uc010qzd.2 + 0 820 c.730C>T c.(730-732)Ctg>Ttg p.L244L HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron NM_001004757 NP_001004757 Q8NH59 O51Q1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily Q, member 1 (OR51Q1), mRNA. 244 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 37 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAATAACTGCCTGTCCCACAT 0.498000 65 20 0 0 0.001882 0 0 LPA 4018 broad.mit.edu 37 6 161022055 161022055 + Silent SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr6:161022055G>A uc003qtl.3 - 19 3141 c.3021C>T c.(3019-3021)gtC>gtT p.V1007V NM_005577 NP_005568 P08519 APOA_HUMAN Homo sapiens lipoprotein, Lp(a) (LPA), mRNA. 3515 Kringle 9. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) ACTCCCACCTGACACTGGGAT 0.483000 22 15 0 0 0.003163 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14439236 14439236 + RNA SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr21:14439236G>A uc002yja.4 + 9 c.2754G>A Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA. AAAAATTAGGGAAGAATTAGG 0.294000 21 5 0 0 0.001168 0 0 KRTAP5-4 387267 broad.mit.edu 37 11 1643049 1643049 + Missense_Mutation SNP A C C TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr11:1643049A>C uc009ycy.1 - 1 257 c.170T>G c.(169-171)gTc>gGc p.V57G MOB2_uc001ltq.2_Intron NM_001012709 NP_001012727 Q6L8H1 KRA54_HUMAN Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA. 152 9 X 4 AA repeats of C-C-X-P. keratin filament p.V92G(2) NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2) 20 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CCCACAGGAGACACAGCCCCC 0.682000 47 4 0 0 0.004482 0 0 TMC5 79838 broad.mit.edu 37 16 19451758 19451758 + Missense_Mutation SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr16:19451758G>A uc002dgc.4 + 2 1147 c.398G>A c.(397-399)cGa>cAa p.R133Q TMC5_uc010vaq.2_Missense_Mutation_p.R133Q|TMC5_uc002dgb.4_Missense_Mutation_p.R133Q|TMC5_uc010var.2_Missense_Mutation_p.R133Q NM_001105248 NP_001098718 Q6UXY8 TMC5_HUMAN Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA. 133 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 GGATCTCAACGAAATCCTGAT 0.498000 134 39 0 0 0.006999 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140736378 140736378 + Missense_Mutation SNP T G G TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr5:140736378T>G uc003ljq.2 + 0 1611 c.1611T>G c.(1609-1611)agT>agG p.S537R PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljp.1_Missense_Mutation_p.S537R NM_018917 NP_061740 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA. 539 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R537P(1)|p.R537Q(1) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCAGTGACAGTGGAGACCCTC 0.512000 86 28 0 0 0.008361 0 0 PDP2 57546 broad.mit.edu 37 16 66918600 66918600 + Missense_Mutation SNP G C C rs146518082 TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr16:66918600G>C uc021tjw.1 + 0 413 c.413G>C c.(412-414)gGc>gCc p.G138A PDP2_uc002eqk.2_Missense_Mutation_p.G138A NM_020786 NP_065837 Q9P2J9 PDP2_HUMAN Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 2 (PDP2), mRNA. 138 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|protein serine/threonine phosphatase complex [pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1) 12 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204) CTGATGTTTGGCATCTTCGAT 0.567000 37 18 0 0 0.008871 0 0 TNR 7143 broad.mit.edu 37 1 175355309 175355309 + Missense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr1:175355309C>T uc001gkp.1 - 5 1717 c.1636G>A c.(1636-1638)Ggg>Agg p.G546R TNR_uc009wwu.1_Missense_Mutation_p.G546R NM_003285 NP_003276 Q92752 TENR_HUMAN Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA. 546 Fibronectin type-III 3. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) GTGGTCCTCCCACCTTCCCCG 0.602000 15 4 0 0 0.000602 0 0 ARSF 416 broad.mit.edu 37 X 3002495 3002495 + Silent SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chrX:3002495G>A uc022brz.1 + 5 754 c.618G>A c.(616-618)ggG>ggA p.G206G ARSF_uc004cre.2_Silent_p.G206G|ARSF_uc004crf.2_Silent_p.G206G NM_001201538 NP_001188467 P54793 ARSF_HUMAN Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA. 206 extracellular region arylsulfatase activity|metal ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 38 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TAACCTTTGGGAAGCTGAGCG 0.547000 14 34 0 0 0.002096 0 0 CACNA1B 774 broad.mit.edu 37 9 141015994 141015994 + Missense_Mutation SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr9:141015994G>A uc004cog.3 + 45 6702 c.6557G>A c.(6556-6558)aGg>aAg p.R2186K CACNA1B_uc022bqn.1_Intron|CACNA1B_uc004coi.3_Missense_Mutation_p.R1400K NM_000718 NP_000709 Q00975 CAC1B_HUMAN Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA. 2188 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity p.G2185S(2) NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) GGTGGGCGGAGGCAGCTCCCC 0.637000 26 6 0 0 0.001984 0 0 LRRC37A2 474170 broad.mit.edu 37 17 45127107 45127107 + Missense_Mutation SNP C G G rs147409399 by1000genomes TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr17:45127107C>G uc010wkj.1 + 1 659 c.305C>G c.(304-306)aCc>aGc p.T102S ARL17_uc021tzb.1_Intron|DQ597730_uc010wkl.2_Non-coding_Transcript A6NM11 L37A2_HUMAN Homo sapiens cDNA FLJ42521 fis, clone BRACE3000973. 1238 integral to membrane endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2) 15 Melanoma(429;0.211) BRCA - Breast invasive adenocarcinoma(366;0.232) CCTTCGTTCACCCAAGAGCAT 0.592000 58 3 0 0 0.004672 0 0 NAP1L2 4674 broad.mit.edu 37 X 72433604 72433604 + Missense_Mutation SNP T G G TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chrX:72433604T>G uc004ebi.3 - 0 1107 c.725A>C c.(724-726)gAt>gCt p.D242A NM_021963 NP_068798 Q9ULW6 NP1L2_HUMAN Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA. 242 nucleosome assembly chromatin assembly complex NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3) 29 Renal(35;0.156) TAGCCAAAAATCAGGAATTCC 0.408000 15 15 0 0 0.004990 0 0 IFT122 55764 broad.mit.edu 37 3 129202332 129202332 + Missense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr3:129202332C>T uc003eml.3 + 15 2017 c.1811C>T c.(1810-1812)cCa>cTa p.P604L IFT122_uc003emm.3_Missense_Mutation_p.P553L|IFT122_uc003emn.3_Missense_Mutation_p.P494L|IFT122_uc003emo.3_Missense_Mutation_p.P442L|IFT122_uc003emp.3_Missense_Mutation_p.P403L|IFT122_uc010htc.3_Missense_Mutation_p.P545L|IFT122_uc011bky.2_Missense_Mutation_p.P344L|IFT122_uc011bla.2_Missense_Mutation_p.P344L|IFT122_uc003emr.3_Missense_Mutation_p.P344L|IFT122_uc011bkx.1_Missense_Mutation_p.P393L|IFT122_uc011bkz.1_Non-coding_Transcript|IFT122_uc010htd.1_Missense_Mutation_p.P32L NM_052985 NP_443711 Q9HBG6 IF122_HUMAN Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA. 553 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 CCCCAGGAACCAAACGCCAAC 0.552000 45 13 0 0 0.001855 0 0 WBP11P1 441818 broad.mit.edu 37 18 30093406 30093406 + RNA SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr18:30093406C>T uc010dmc.3 + 0 c.1781C>T Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA. CCCACCAGCTCCCTTGCTGAA 0.517000 27 13 0 0 0.001368 0 0 MYBPC3 4607 broad.mit.edu 37 11 47367775 47367775 + Missense_Mutation SNP T G G TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr11:47367775T>G uc021qis.1 - 11 1128 c.1073A>C c.(1072-1074)gAt>gCt p.D358A MYBPC3_uc021qir.1_Missense_Mutation_p.D11A NM_000256 NP_000247 Q14896 MYPC3_HUMAN Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA. 358 cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament ATPase activator activity|actin binding|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2) 42 Lung(87;0.176) CTTCTTCTCATCGCGCCTCAT 0.607000 21 5 0 0 0.000602 0 0 HNF1B 6928 broad.mit.edu 37 17 36091630 36091630 + Missense_Mutation SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr17:36091630G>A uc002hok.4 - 3 1222 c.1001C>T c.(1000-1002)tCc>tTc p.S334F HNF1B_uc021tvu.1_Missense_Mutation_p.S104F|HNF1B_uc010wdi.2_Missense_Mutation_p.S308F|HNF1B_uc021tvv.1_Missense_Mutation_p.S334F|HNF1B_uc021tvw.1_Missense_Mutation_p.S308F|HNF1B_uc010cve.1_Missense_Mutation_p.S142F NM_000458 NP_000449 P35680 HNF1B_HUMAN Homo sapiens HNF1 homeobox B (HNF1B), transcript variant 1, mRNA. 334 endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size nucleus DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2) 28 Breast(25;0.00765)|Ovarian(249;0.15) STAD - Stomach adenocarcinoma(1;0.0142) GTGGTGGGGGGAGCCGTGGGA 0.602000 313 90 0 0 0.003610 0 0 SPANXN2 494119 broad.mit.edu 37 X 142795341 142795341 + Missense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chrX:142795341C>T uc004fbz.3 - 1 1091 c.337G>A c.(337-339)Gaa>Aaa p.E113K NM_001009615 NP_001009615 Q5MJ10 SPXN2_HUMAN Homo sapiens SPANX family, member N2 (SPANXN2), mRNA. 113 p.D112G(1) 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) TCCAGGTCTTCGTCCTCCTGT 0.532000 179 30 0 0 0.003610 0 0 SERPINA11 256394 broad.mit.edu 37 14 94914815 94914815 + Silent SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr14:94914815G>A uc001ydd.1 - 1 357 c.297C>T c.(295-297)atC>atT p.I99I NM_001080451 NP_001073920 Q86U17 SPA11_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA. 99 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1) 24 COAD - Colon adenocarcinoma(157;0.211) GGCCCTCCAGGATCAGAGCTG 0.622000 60 12 0 0 0.000978 0 0 SLC30A8 169026 broad.mit.edu 37 8 118159286 118159286 + Missense_Mutation SNP T G G TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr8:118159286T>G uc003yoh.3 + 1 395 c.165T>G c.(163-165)agT>agG p.S55R SLC30A8_uc010mcz.3_Missense_Mutation_p.S6R|SLC30A8_uc003yog.3_Missense_Mutation_p.S6R|SLC30A8_uc011lia.2_Missense_Mutation_p.S6R|SLC30A8_uc022bab.1_Missense_Mutation_p.S6R NM_173851 NP_001166286 Q8IWU4 ZNT8_HUMAN Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA. 55 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) ACTGCCACAGTGGCTCCAAGC 0.502000 278 184 0 0 0.003610 0 0 GPATCH8 23131 broad.mit.edu 37 17 42512489 42512489 + Missense_Mutation SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr17:42512489G>A uc002igw.2 - 4 511 c.292C>T c.(292-294)Cgc>Tgc p.R98C GPATCH8_uc002igv.2_Missense_Mutation_p.R20C|GPATCH8_uc010wiz.2_Missense_Mutation_p.R20C NM_001002909 NP_001002909 Q9UKJ3 GPTC8_HUMAN Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA. 98 intracellular nucleic acid binding|zinc ion binding breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) AGGACACGGCGCCGTTCGGTA 0.383000 37 16 0 0 0.004990 0 0 SNTG1 54212 broad.mit.edu 37 8 51621528 51621528 + Missense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr8:51621528C>T uc010lxy.1 + 17 1645 c.1274C>T c.(1273-1275)gCt>gTt p.A425V SNTG1_uc003xqs.1_Missense_Mutation_p.A425V|SNTG1_uc010lxz.1_Missense_Mutation_p.A425V|SNTG1_uc011ldl.1_Non-coding_Transcript NM_018967 NP_061840 Q9NSN8 SNTG1_HUMAN Homo sapiens syntrophin, gamma 1 (SNTG1), mRNA. 425 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) TGCTTTGATGCTGCAACAAAG 0.378000 42 8 0 0 0.008291 0 0 LPAR4 2846 broad.mit.edu 37 X 78010772 78010772 + Missense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chrX:78010772C>T uc022bzj.1 + 0 406 c.406C>T c.(406-408)Cgt>Tgt p.R136C LPAR4_uc010nme.3_Missense_Mutation_p.R136C NM_005296 NP_005287 Q99677 LPAR4_HUMAN Homo sapiens lysophosphatidic acid receptor 4 (LPAR4), mRNA. 136 integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 38 TAGTGTGGATCGTTTCCTGGC 0.483000 30 52 0 0 0.003610 0 0 CFH 3075 broad.mit.edu 37 1 196874358 196874358 + Missense_Mutation SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr1:196874358G>A uc001gtp.3 + 2 514 c.377G>A c.(376-378)gGa>gAa p.G126E CFH_uc021pgt.1_Intron|CFH_uc009wyy.3_Missense_Mutation_p.G125E|CFH_uc001gto.3_Intron NM_001201550 NP_001188479 P08603 CFAH_HUMAN Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA. 486 Sushi 2. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 ACAGCAGAGGGAAATTCTTCA 0.313000 48 12 0 0 0.001368 0 0 LRP2 4036 broad.mit.edu 37 2 170101310 170101310 + Missense_Mutation SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr2:170101310G>A uc002ues.3 - 21 3536 c.3323C>T c.(3322-3324)tCc>tTc p.S1108F LRP2_uc010zdf.1_Missense_Mutation_p.S971F NM_004525 NP_004516 P98164 LRP2_HUMAN Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA. 1108 LDL-receptor class A 10. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome SH3 domain binding|calcium ion binding|receptor activity biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GTCAAGGCAGGAAGCAGGTGC 0.527000 74 28 0 0 0.006320 0 0 KDM5A 5927 broad.mit.edu 37 12 404935 404935 + Missense_Mutation SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr12:404935G>A uc001qif.1 - 25 4622 c.4259C>T c.(4258-4260)cCt>cTt p.P1420L KDM5A_uc021qsr.1_5'UTR NM_001042603 NP_001036068 P29375 KDM5A_HUMAN Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA. 1420 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2) 77 GCTCTTCCGAGGTTGTTTCCT 0.408000 T NUP98 AML 79 27 0 0 0.007291 0 0 MLF1 4291 broad.mit.edu 37 3 158317946 158317946 + Silent SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr3:158317946C>T uc003fcc.3 + 6 1008 c.645C>T c.(643-645)ttC>ttT p.F215F MLF1_uc003fbx.3_Silent_p.F174F|MLF1_uc003fbz.3_Silent_p.F159F|MLF1_uc003fca.3_Silent_p.F159F|MLF1_uc003fcb.3_Silent_p.F184F|MLF1_uc010hvx.3_Silent_p.F116F|MLF1_uc003fby.3_Silent_p.F110F NM_001195432 NP_001182361 P58340 MLF1_HUMAN Homo sapiens myeloid leukemia factor 1 (MLF1), transcript variant 4, mRNA. 184 cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein domain specific binding large_intestine(3) 3 Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299) Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256) ACCAGGAGTTCATCAATATGA 0.299000 T NPM1 AML 74 18 0 0 0.002780 0 0 HOXB1 3211 broad.mit.edu 37 17 46607774 46607774 + Missense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr17:46607774C>T uc002ink.1 - 0 499 c.493G>A c.(493-495)Gaa>Aaa p.E165K HOXB1_uc021tzf.1_Missense_Mutation_p.E165K NM_002144 NP_002135 P14653 HXB1_HUMAN Homo sapiens homeobox B1 (HOXB1), mRNA. 165 nucleus protein domain specific binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 CAGGGTGTTTCCTTGTCCTCG 0.597000 25 10 0 0 0.000978 0 0 KRT75 9119 broad.mit.edu 37 12 52826938 52826938 + Silent SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr12:52826938G>A uc001saj.2 - 1 619 c.597C>T c.(595-597)ctC>ctT p.L199L NM_004693 NP_004684 O95678 K2C75_HUMAN Homo sapiens keratin 75 (KRT75), mRNA. 199 Linker 1.|Rod. keratin filament structural molecule activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(357;0.192) AGGAATCAAAGAGGGGCTCTA 0.577000 58 19 0 0 0.001882 0 0 EHHADH 1962 broad.mit.edu 37 3 184953239 184953239 + Missense_Mutation SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr3:184953239G>A uc003fpf.3 - 2 266 c.190C>T c.(190-192)Cgt>Tgt p.R64C EHHADH_uc011brs.2_5'UTR NM_001966 NP_001957 Q08426 ECHP_HUMAN Homo sapiens enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase (EHHADH), transcript variant 1, mRNA. 64 Enoyl-CoA hydratase / isomerase. peroxisome 3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3) 24 all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21) NADH(DB00157) CTGAAGCCACGAATATCAGCA 0.418000 19 7 0 0 0.006214 0 0 DACH1 1602 broad.mit.edu 37 13 72053370 72053370 + Missense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr13:72053370C>T uc021rkj.1 - 7 2230 c.1807G>A c.(1807-1809)Gat>Aat p.D603N DACH1_uc021rkk.1_Missense_Mutation_p.D455N|DACH1_uc021rkl.1_Missense_Mutation_p.D401N NM_080759 NP_542937 Q9UI36 DACH1_HUMAN Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA. 653 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) CTTAAAAAATCCATCTTCAGC 0.378000 46 16 0 0 0.004007 0 0 DNAH10 196385 broad.mit.edu 37 12 124268493 124268493 + Splice_Site SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr12:124268493G>A uc001uft.4 + 8 842 c.817_splice c.e8-1 p.G273_splice NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA. 273 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) TCACCTCTCAGGGTAAAGGCC 0.443000 12 8 0 0 0.003080 0 0 OR5H15 403274 broad.mit.edu 37 3 97887673 97887673 + Missense_Mutation SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr3:97887673G>A uc011bgu.2 + 0 130 c.130G>A c.(130-132)Ggt>Agt p.G44S NM_001005515 NP_001005515 A6NDH6 O5H15_HUMAN Homo sapiens olfactory receptor, family 5, subfamily H, member 15 (OR5H15), mRNA. 44 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1) 35 GGGGAATCTTGGTCTGATTGC 0.408000 86 33 0 0 0.003610 0 0 OR2G6 391211 broad.mit.edu 37 1 248685664 248685664 + Silent SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr1:248685664G>A uc001ien.1 + 0 717 c.717G>A c.(715-717)ggG>ggA p.G239G NM_001013355 NP_001013373 Q5TZ20 OR2G6_HUMAN Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA. 239 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 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) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AGGCCTTTGGGACCTGTTCGT 0.458000 58 14 0 0 0.002450 0 0 PSMD3 5709 broad.mit.edu 37 17 38140725 38140725 + Silent SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr17:38140725C>T uc002htn.1 + 1 563 c.399C>T c.(397-399)ccC>ccT p.P133P PSMD3_uc010wen.1_Non-coding_Transcript|PSMD3_uc010weo.1_Silent_p.P34P NM_002809 NP_002800 O43242 PSMD3_HUMAN Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 3 (PSMD3), mRNA. 133 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|viral reproduction proteasome complex enzyme regulator activity|protein binding p.L132L(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(19;0.000442) TTTTGCTCCCCTTCCTGGAAG 0.507000 32 8 0 0 0.003080 0 0 CYP2C19 1557 broad.mit.edu 37 10 96541593 96541593 + Missense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr10:96541593C>T uc010qnz.2 + 4 658 c.658C>T c.(658-660)Ccc>Tcc p.P220S CYP2C19_uc009xus.1_Missense_Mutation_p.P85S|CYP2C19_uc010qny.2_Missense_Mutation_p.P198S NM_000769 NP_000760 P33261 CP2CJ_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA. 220 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) CAATAATTTTCCCACTATCAT 0.274000 22 7 0 0 0.004482 0 0 BEND4 389206 broad.mit.edu 37 4 42122103 42122103 + Missense_Mutation SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr4:42122103G>A uc003gwn.3 - 4 1935 c.1355C>T c.(1354-1356)cCt>cTt p.P452L BEND4_uc003gwm.3_Intron|BEND4_uc011byy.1_Missense_Mutation_p.P452L NM_207406 NP_997289 Q6ZU67 BEND4_HUMAN Homo sapiens BEN domain containing 4 (BEND4), transcript variant 1, mRNA. 452 BEN. NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 26 TGGATCCAGAGGGCGTCTTTC 0.507000 23 9 0 0 0.008291 0 0 CSMD3 114788 broad.mit.edu 37 8 113323359 113323359 + Missense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr8:113323359C>T uc003ynu.3 - 49 7892 c.7733G>A c.(7732-7734)gGa>gAa p.G2578E CSMD3_uc003yns.3_Missense_Mutation_p.G1780E|CSMD3_uc003ynt.3_Missense_Mutation_p.G2538E|CSMD3_uc011lhx.2_Missense_Mutation_p.G2474E|CSMD3_uc003ynw.1_Missense_Mutation_p.G289E NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 2578 Sushi 14. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GATAATATATCCATGAGGTGG 0.408000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 35 10 0 0 0.008291 0 0 LRRFIP2 9209 broad.mit.edu 37 3 37136389 37136389 + Missense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr3:37136389C>T uc003cgp.2 - 17 1352 c.929G>A c.(928-930)cGa>cAa p.R310Q LRRFIP2_uc011ayf.1_Missense_Mutation_p.R150Q|LRRFIP2_uc003cgs.3_Missense_Mutation_p.R78Q|LRRFIP2_uc003cgt.3_Missense_Mutation_p.R78Q NM_006309 NP_006300 Q9Y608 LRRF2_HUMAN Homo sapiens leucine rich repeat (in FLII) interacting protein 2 (LRRFIP2), transcript variant 1, mRNA. 310 DVL3-binding.|Ser-rich. Wnt receptor signaling pathway LRR domain binding p.0?(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 GGCAGAATTTCGAGATGAAGG 0.433000 51 13 0 0 0.004007 0 0 DNAH8 1769 broad.mit.edu 37 6 38879243 38879243 + Splice_Site SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr6:38879243G>A uc021yzh.1 + 66 9850 c.9741_splice c.e66-1 p.R3247_splice DNAH8_uc003ooe.2_Splice_Site_p.R3030_splice|LOC100131047_uc003oof.2_Intron 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 TCTGCTTTCAGATACCGCCGA 0.373000 56 26 0 0 0.007291 0 0 CLVS2 134829 broad.mit.edu 37 6 123369783 123369783 + Missense_Mutation SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr6:123369783G>A uc003pzi.1 + 3 1450 c.581G>A c.(580-582)cGa>cAa p.R194Q NM_001010852 NP_001010852 Q5SYC1 CLVS2_HUMAN Homo sapiens clavesin 2 (CLVS2), mRNA. 194 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 40 TTCCCAGCGCGATTTGGAGGA 0.388000 78 32 0 0 0.003271 0 0 IL27RA 9466 broad.mit.edu 37 19 14150436 14150436 + Missense_Mutation SNP A G G TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr19:14150436A>G uc002mxx.3 + 2 758 c.335A>G c.(334-336)cAg>cGg p.Q112R NM_004843 NP_004834 Q6UWB1 I27RA_HUMAN Homo sapiens interleukin 27 receptor, alpha (IL27RA), mRNA. 112 cell surface receptor linked signaling pathway|immune response integral to plasma membrane transmembrane receptor activity breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 26 AAGGCAGGCCAGCCTCTCTGG 0.627000 37 13 0 0 0.002450 0 0 TEP1 7011 broad.mit.edu 37 14 20851800 20851800 + Silent SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr14:20851800G>A uc001vxe.3 - 25 3754 c.3714C>T c.(3712-3714)agC>agT p.S1238S TEP1_uc010ahk.3_Silent_p.S588S|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Silent_p.S1130S|TEP1_uc010tlh.1_5'Flank NM_007110 NP_009041 Q99973 TEP1_HUMAN Homo sapiens telomerase-associated protein 1 (TEP1), mRNA. 1238 NACHT. telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) CCCACACCAGGCTTCTGTACA 0.572000 22 6 0 0 0.003080 0 0 GUCY1A2 2977 broad.mit.edu 37 11 106810345 106810345 + Silent SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr11:106810345C>T uc009yxn.1 - 3 1437 c.1047G>A c.(1045-1047)caG>caA p.Q349Q GUCY1A2_uc001pjg.1_Silent_p.Q349Q|GUCY1A2_uc010rvo.1_Silent_p.Q349Q NM_000855 NP_000846 P33402 GCYA2_HUMAN Homo sapiens guanylate cyclase 1, soluble, alpha 2 (GUCY1A2), transcript variant 2, mRNA. 349 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) CACATCGAAGCTGCTTCCTTA 0.473000 15 8 0 0 0.003080 0 0 TTN 7273 broad.mit.edu 37 2 179594171 179594171 + Missense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr2:179594171C>T uc021vsy.1 - 60 15205 c.14980G>A c.(14980-14982)Gaa>Aaa p.E4994K TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E1655K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 5921 Ig-like 30. 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) CTTCGAATTTCCCTGTTATTC 0.458000 55 29 0 0 0.001786 0 0 CEACAM18 729767 broad.mit.edu 37 19 51986515 51986515 + Silent SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr19:51986515C>T uc002pwv.1 + 4 1101 c.1101C>T c.(1099-1101)atC>atT p.I367I NM_001080405 NP_001073874 A8MTB9 CEA18_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA. 367 Ig-like C2-type. integral to membrane breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1) 17 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) CACAGCTGATCATGTACATGG 0.577000 35 16 0 0 0.003163 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94654429 94654429 + Missense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr1:94654429C>T uc001dqj.4 - 14 2014 c.1645G>A c.(1645-1647)Gaa>Aaa p.E549K ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dqk.3_Missense_Mutation_p.E115K NM_004815 NP_004806 Q52LW3 RHG29_HUMAN Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA. 549 Rho protein signal transduction cytosol Rho GTPase activator activity|metal ion binding NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) GATCTAGATTCGCTGCTCCCT 0.358000 63 24 0 0 0.008361 0 0 HELZ 9931 broad.mit.edu 37 17 65105774 65105774 + Missense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr17:65105774C>T uc010wqk.2 - 28 4137 c.3950G>A c.(3949-3951)aGa>aAa p.R1317K HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Missense_Mutation_p.R1316K|HELZ_uc010der.3_5'UTR NM_014877 NP_055692 Homo sapiens helicase with zinc finger (HELZ), mRNA. NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) TTCAGGACTTCTGTTCTGTGG 0.408000 57 24 0 0 0.008361 0 0 OR5P2 120065 broad.mit.edu 37 11 7818403 7818403 + Silent SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr11:7818403G>A uc001mfp.1 - 0 87 c.87C>T c.(85-87)atC>atT p.I29I NM_153444 NP_703145 Q8WZ92 OR5P2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA. 29 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 22 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) TCATGAAGAGGATGACTCGAA 0.433000 34 10 0 0 0.000978 0 0 DCAF4 26094 broad.mit.edu 37 14 73409707 73409707 + Missense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr14:73409707C>T uc001xng.3 + 5 657 c.437C>T c.(436-438)gCc>gTc p.A146V DCAF4_uc010ttr.2_Missense_Mutation_p.A124V|DCAF4_uc001xnj.3_Missense_Mutation_p.A146V|DCAF4_uc001xnh.3_Missense_Mutation_p.A46V|DCAF4_uc010tts.2_Intron|DCAF4_uc010ttt.2_5'UTR|DCAF4_uc001xni.3_Intron|DCAF4_uc001xnk.3_Missense_Mutation_p.A146V NM_015604 NP_851937 Q8WV16 DCAF4_HUMAN Homo sapiens DDB1 and CUL4 associated factor 4 (DCAF4), transcript variant 1, mRNA. 146 CUL4 RING ubiquitin ligase complex NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1) 22 TGCAGTTTAGCCCACGAGCTG 0.567000 23 6 0 0 0.001168 0 0 MAB21L1 4081 broad.mit.edu 37 13 36050146 36050146 + Missense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr13:36050146C>T uc001uvc.3 - 1 712 c.130G>A c.(130-132)Gaa>Aaa p.E44K NBEA_uc021ric.1_Intron|NBEA_uc021rid.1_Intron|NBEA_uc010abi.3_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.2_5'Flank|NBEA_uc010teg.1_5'Flank NM_005584 NP_005575 Q13394 MB211_HUMAN Homo sapiens mab-21-like 1 (C. elegans) (MAB21L1), mRNA. 44 anatomical structure morphogenesis nucleus breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 20 Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202) all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115) ACTTCCACTTCCTTCAGTACG 0.502000 71 18 0 0 0.008871 0 0 TCRA 0 broad.mit.edu 37 14 22538933 22538933 + Missense_Mutation SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr14:22538933G>A uc001wcy.3 + 0 28 c.17G>A c.(16-18)gGa>gAa p.G6E TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpq.1_5'Flank Homo sapiens mRNA for T cell receptor alpha variable 22, partial cds, clone: SEB 209. AAAATGCCCGGAGCAAGAAGG 0.512000 7 3 0 0 0.004672 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54911318 54911318 + Splice_Site SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr12:54911318C>T uc001sgc.4 + 12 1175 c.1096_splice c.e12-1 p.A366_splice NCKAP1L_uc010sox.2_Splice_Site|NCKAP1L_uc010soy.2_Splice_Site_p.A316_splice NM_005337 NP_005328 P55160 NCKPL_HUMAN Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA. 366 B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug SCAR complex|cytosol|integral to plasma membrane|membrane fraction Rac GTPase activator activity|protein complex binding|protein kinase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 CCTCCATAGGCTCTTTTTGCT 0.413000 36 8 0 0 0.003080 0 0 SCAND3 114821 broad.mit.edu 37 6 28554098 28554098 + Missense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr6:28554098C>T uc003nlo.3 - 0 1015 c.397G>A c.(397-399)Gag>Aag p.E133K AK056211_uc003nlp.1_5'Flank NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN Homo sapiens SCAN domain containing 3 (SCAND3), mRNA. 133 SCAN box. DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 TCATCAAGCTCCCTCTCCAAA 0.507000 170 47 0 0 0.003610 0 0 TMEM119 338773 broad.mit.edu 37 12 108985911 108985911 + Silent SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr12:108985911G>A uc001tng.3 - 1 412 c.249C>T c.(247-249)ttC>ttT p.F83F TMEM119_uc021rdl.1_Silent_p.F83F NM_181724 NP_859075 Q4V9L6 TM119_HUMAN Homo sapiens transmembrane protein 119 (TMEM119), mRNA. 83 integral to membrane p.F83F(2) large_intestine(2)|lung(3)|ovary(1)|skin(1) 7 TCCCATCCAGGAAGTTGGTGG 0.652000 15 9 0 0 0.008291 0 0 MUC16 94025 broad.mit.edu 37 19 9085550 9085550 + Missense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr19:9085550C>T uc002mkp.3 - 0 6469 c.6265G>A c.(6265-6267)Gaa>Aaa p.E2089K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 2089 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 AGTGGAAATTCAGTCGTAGTT 0.473000 135 28 0 0 0.006320 0 0 ATXN2 6311 broad.mit.edu 37 12 111951235 111951235 + Missense_Mutation SNP G A A rs145598979 TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr12:111951235G>A uc001tsj.3 - 10 2126 c.1964C>T c.(1963-1965)cCc>cTc p.P655L ATXN2_uc001tsh.3_Missense_Mutation_p.P390L|ATXN2_uc001tsi.3_Missense_Mutation_p.P366L|ATXN2_uc001tsk.3_Non-coding_Transcript|ATXN2_uc001tsm.1_Missense_Mutation_p.P390L NM_002973 NP_002964 Q99700 ATX2_HUMAN Homo sapiens ataxin 2 (ATXN2), mRNA. 655 Pro-rich. RNA metabolic process|RNA transport|cell death|cytoplasmic mRNA processing body assembly|regulation of translation|stress granule assembly nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network RNA binding|protein C-terminus binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 TGCTTCACTGGGTGGGTTGTG 0.547000 32 12 0 0 0.001855 0 0 HSD3B7 80270 broad.mit.edu 37 16 30999285 30999285 + Silent SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr16:30999285C>T uc002eaf.2 + 6 997 c.891C>T c.(889-891)ttC>ttT p.F297F HSD3B7_uc010cac.2_3'UTR|HSD3B7_uc002eag.2_3'UTR|HSD3B7_uc002eah.2_Silent_p.F297F NM_025193 NP_079469 Q9H2F3 3BHS7_HUMAN Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 (HSD3B7), transcript variant 1, mRNA. 297 bile acid biosynthetic process endoplasmic reticulum membrane|integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 TGCTGGTGTTCCTGGCTGCCC 0.657000 65 22 0 0 0.001882 0 0 LRRC39 127495 broad.mit.edu 37 1 100620727 100620727 + Missense_Mutation SNP C T T rs142389687 byFrequency TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr1:100620727C>T uc001dsw.1 - 7 891 c.692G>A c.(691-693)cGa>cAa p.R231Q LRRC39_uc001dsx.1_Missense_Mutation_p.R231Q|LRRC39_uc001dsy.1_Missense_Mutation_p.R231Q|LRRC39_uc001dsz.1_Missense_Mutation_p.R231Q NM_144620 NP_653221 Q96DD0 LRC39_HUMAN Homo sapiens leucine rich repeat containing 39 (LRRC39), transcript variant 3, mRNA. 231 endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1) 13 all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155) Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195) TATTTCATTTCGTTGCAGCCA 0.308000 28 11 0 0 0.001368 0 0 SLC5A5 6528 broad.mit.edu 37 19 17985012 17985012 + Splice_Site SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr19:17985012G>A uc002nhr.4 + 2 770 c.423_splice c.e2+1 p.T141_splice NM_000453 NP_000444 Q92911 SC5A5_HUMAN Homo sapiens solute carrier family 5 (sodium iodide symporter), member 5 (SLC5A5), mRNA. 141 cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process integral to membrane|nucleus|plasma membrane iodide transmembrane transporter activity|sodium:iodide symporter activity NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 TTGTAGCCACGGTGAGTGGCC 0.682000 16 5 0 0 0.001168 0 0 CDH6 1004 broad.mit.edu 37 5 31323026 31323026 + Missense_Mutation SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr5:31323026G>A uc003jhe.2 + 11 2344 c.1984G>A c.(1984-1986)Gaa>Aaa p.E662K NM_004932 NP_004923 P55285 CADH6_HUMAN Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA. 662 adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding p.D661N(1) NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TTACAACGACGAAGGTGGTGG 0.493000 50 12 0 0 0.002450 0 0 GPR98 84059 broad.mit.edu 37 5 90073776 90073776 + Silent SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr5:90073776C>T uc003kju.3 + 61 12678 c.12582C>T c.(12580-12582)ttC>ttT p.F4194F GPR98_uc003kjt.3_Silent_p.F1900F NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 4194 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GGAGGATATTCCCTCCTTCCG 0.433000 12 6 0 0 0.001984 0 0 STC2 8614 broad.mit.edu 37 5 172750340 172750340 + Missense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr5:172750340C>T uc003mco.1 - 2 1698 c.388G>A c.(388-390)Gaa>Aaa p.E130K STC2_uc003mcn.1_Missense_Mutation_p.E45K NM_003714 NP_003705 O76061 STC2_HUMAN Homo sapiens stanniocalcin 2 (STC2), mRNA. 130 cell surface receptor linked signaling pathway|cell-cell signaling extracellular region hormone activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3) 25 Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) GACACCATTTCCCTGATGGCC 0.567000 16 6 0 0 0.001984 0 0 TROAP 10024 broad.mit.edu 37 12 49724790 49724790 + Missense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr12:49724790C>T uc009zlh.3 + 12 2329 c.2162C>T c.(2161-2163)aCc>aTc p.T721I TROAP_uc001rtx.4_Intron NM_005480 NP_005471 Q12815 TROAP_HUMAN Homo sapiens trophinin associated protein (tastin) (TROAP), transcript variant 1, mRNA. 738 cell adhesion cytoplasm breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 32 GAGCTGCACACCTGCCCTGCC 0.617000 25 6 0 0 0.001168 0 0 APC 324 broad.mit.edu 37 5 112178816 112178816 + Missense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr5:112178816C>T uc003kpz.4 + 16 7718 c.7525C>T c.(7525-7527)Cct>Tct p.P2509S APC_uc011cvt.2_Missense_Mutation_p.P2491S|APC_uc003kpy.4_Missense_Mutation_p.P2509S|APC_uc010jbz.3_Missense_Mutation_p.P2226S|APC_uc010jca.3_Missense_Mutation_p.P1809S NM_001127510 NP_001120982 P25054 APC_HUMAN Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA. 2509 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) AAAACTCCCACCTAATCTCAG 0.458000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 45 20 0 0 0.008871 0 0 CACNA1E 777 broad.mit.edu 37 1 181687295 181687295 + Missense_Mutation SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr1:181687295G>A uc009wxt.3 + 11 1825 c.1630G>A c.(1630-1632)Gat>Aat p.D544N CACNA1E_uc001gow.3_Missense_Mutation_p.D544N|CACNA1E_uc009wxs.3_Missense_Mutation_p.D544N NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 544 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CAACTGCTTTGATTTTGGGGT 0.483000 14 8 0 0 0.003080 0 0 INSRR 3645 broad.mit.edu 37 1 156816380 156816380 + Missense_Mutation SNP T C C TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr1:156816380T>C uc010pht.2 - 7 2040 c.1741A>G c.(1741-1743)Acc>Gcc p.T581A NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron NM_014215 NP_055030 P14616 INSRR_HUMAN Homo sapiens insulin receptor-related receptor (INSRR), mRNA. 581 Fibronectin type-III 1. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity p.T581N(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TCCTCAGTGGTTAGCGTGATG 0.607000 23 8 0 0 0.004482 0 0 HYDIN 54768 broad.mit.edu 37 16 71065807 71065807 + Missense_Mutation SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr16:71065807G>A uc002ezr.3 - 18 2694 c.2543C>T c.(2542-2544)tCc>tTc p.S848F HYDIN_uc010cfz.2_Missense_Mutation_p.S593F|HYDIN_uc021tkq.1_Missense_Mutation_p.S848F|HYDIN_uc010vmc.2_Missense_Mutation_p.S865F|HYDIN_uc010vmd.2_Missense_Mutation_p.S875F NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 848 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) CGTCCAAAGGGATTTTTTGTG 0.438000 27 4 0 0 0.003080 0 0 RNF113B 140432 broad.mit.edu 37 13 98829441 98829441 + Missense_Mutation SNP A G G TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr13:98829441A>G uc001vnk.3 - 0 81 c.50T>C c.(49-51)gTa>gCa p.V17A FARP1_uc001vnh.3_Intron|FARP1_uc001vni.3_Intron|FARP1_uc001vnj.3_Intron NM_178861 NP_849192 Q8IZP6 R113B_HUMAN Homo sapiens ring finger protein 113B (RNF113B), mRNA. 17 nucleic acid binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.13) GAAGGTGCATACCTGGTCTGC 0.652000 28 5 0 0 0.001168 0 0 DMBT1 1755 broad.mit.edu 37 10 124389503 124389503 + Missense_Mutation SNP A T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr10:124389503A>T uc001lgk.1 + 43 5535 c.5429A>T c.(5428-5430)aAt>aTt p.N1810I DMBT1_uc001lgl.1_Missense_Mutation_p.N1800I|DMBT1_uc001lgm.1_Missense_Mutation_p.N1182I|DMBT1_uc021qaf.1_Missense_Mutation_p.N1810I|DMBT1_uc021qag.1_Missense_Mutation_p.N1800I|DMBT1_uc021qah.1_Missense_Mutation_p.N1182I|DMBT1_uc009xzz.1_Missense_Mutation_p.N1810I|DMBT1_uc010qtx.1_Missense_Mutation_p.N530I|DMBT1_uc009yab.1_Missense_Mutation_p.N513I|DMBT1_uc009yac.1_Missense_Mutation_p.N104I NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA. 1810 CUB 1. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GGCTTCAGTAATCTGAAGTAA 0.483000 60 24 0 0 0.003330 0 0 RGPD3 653489 broad.mit.edu 37 2 107032347 107032347 + Missense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr2:107032347C>T uc010ywi.1 - 20 5080 c.5023G>A c.(5023-5025)Gaa>Aaa p.E1675K NM_001144013 NP_001137485 A6NKT7 RGPD3_HUMAN Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA. 1675 intracellular transport binding p.R1674L(1) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 GCCTCTATTTCCCGAAGCAGG 0.438000 118 40 0 0 0.003610 0 0 MPP6 51678 broad.mit.edu 37 7 24690159 24690159 + Missense_Mutation SNP G A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr7:24690159G>A uc003swx.3 + 5 778 c.479G>A c.(478-480)gGg>gAg p.G160E MPP6_uc003swy.3_Missense_Mutation_p.G160E NM_016447 NP_057531 Q9NZW5 MPP6_HUMAN Homo sapiens membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) (MPP6), mRNA. 160 PDZ. protein complex assembly protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2) 20 ATCCTCCATGGGGGAATGATA 0.353000 37 22 0 0 0.003330 0 0 PRELID1 27166 broad.mit.edu 37 5 176731688 176731688 + Missense_Mutation SNP C T T TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr5:176731688C>T uc003mfx.3 + 1 307 c.155C>T c.(154-156)tCc>tTc p.S52F RAB24_uc003mfv.3_5'Flank|RAB24_uc003mfw.3_5'Flank|PRELID1_uc021yiq.1_Missense_Mutation_p.S52F NM_013237 NP_037369 Q9Y255 PRLD1_HUMAN Homo sapiens PRELI domain containing 1 (PRELID1), nuclear gene encoding mitochondrial protein, mRNA. 52 PRELI/MSF1. immune response|multicellular organismal development mitochondrion|nucleus endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1) 7 all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AAACTGCTGTCCCGGCGACTC 0.562000 14 6 0 0 0.001984 0 0 BOD1L1 259282 broad.mit.edu 37 4 13582680 13582681 + Splice_Site INS - A A TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr4:13582680_13582681insA uc003gmz.1 - 21 8786 c.8669_splice c.e21-1 p.K2890_splice NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA. 2890 DNA binding AGTCGTCTTCTAAAAAAAAAAA 0.337 --- 4 --- --- 2 --- TIMD4 91937 broad.mit.edu 37 5 156378745 156378747 + In_Frame_Del DEL TTG - - TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr5:156378745_156378747delTTG uc003lwh.2 - 2 512_514 c.455_457delCAA c.(454-459)acaagc>agc p.T152del TIMD4_uc010jii.2_In_Frame_Del_p.T152del NM_138379 NP_612388 Q96H15 TIMD4_HUMAN Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA. 152 Thr-rich. integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTGGTGGGGCTTGTTGTTGTTGT 0.537 --- 739 --- --- 8 --- ACTL6B 51412 broad.mit.edu 37 7 100245130 100245131 + Frame_Shift_Ins INS - G G TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr7:100245130_100245131insG uc003uvy.3 - 7 802_803 c.695_696insC c.(694-696)ccafs p.P232fs ACTL6B_uc003uvz.3_Non-coding_Transcript NM_016188 NP_057272 O94805 ACL6B_HUMAN Homo sapiens actin-like 6B (ACTL6B), mRNA. 232 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent SWI/SNF complex|nBAF complex ATP binding|protein binding|structural constituent of cytoskeleton endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1) 13 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) TCTTCCAGTTTGGGGGGGCACC 0.609 --- 118 --- --- 31 --- PMEL 6490 broad.mit.edu 37 12 56355182 56355184 + In_Frame_Del DEL AGA - - TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr12:56355182_56355184delAGA uc001sir.3 - 2 914_916 c.251_253delTCT c.(250-255)ttctct>tct p.F84del PMEL_uc001siq.3_In_Frame_Del_p.F84del|PMEL_uc010spx.2_Intron|PMEL_uc001sip.3_In_Frame_Del_p.F84del NM_006928 NP_008859 P40967 PMEL_HUMAN Homo sapiens premelanosome protein (PMEL), transcript variant 3, mRNA. 84 melanin biosynthetic process|melanosome organization Golgi apparatus|endoplasmic reticulum membrane|extracellular region|integral to membrane|melanosome|multivesicular body membrane|plasma membrane protein binding NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 AAGGCAATAGAGAAGGAGGCATT 0.483 --- 56 --- --- 15 --- YY1 7528 broad.mit.edu 37 14 100705788 100705790 + In_Frame_Del DEL CCA - - rs76675246 TCGA-ER-A19O-06A-11D-A197-08 TCGA-ER-A19O-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1a7c6c6-a7a5-44f1-84d5-59c7a6ef902f a6eb80d5-a4af-4d88-a201-9130e38ad853 g.chr14:100705788_100705790delCCA uc001ygy.1 + 0 687_689 c.207_209delCCA c.(205-210)ggccac>ggc p.H80del NM_003403 NP_003394 P25490 TYY1_HUMAN Homo sapiens YY1 transcription factor (YY1), mRNA. 80 Poly-His. cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis Ino80 complex|nuclear matrix|plasma membrane four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1) 11 Melanoma(154;0.152) gGCACGCCGGccaccaccaccac 0.724 --- 6 --- --- 3 ---